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815 Result(s)
- N syndrome
- N-acetyl-alpha-glucosaminidase deficiency
- N-acetylgalactosamine 4-sulfatase deficiency
- N-acetylgalactosamine-6-sulfate sulfatase deficiency
- N-acetylglucosamine 1-phosphotransferase deficiency
- N-acetylglucosaminyltransferase 2 deficiency
- N-acyl-aliphatic-L-amino acid amidohydrolase deficiency
- N-acyl-L-amino acid amidohydrolase deficiency
- N-methyl-D-aspartate receptor encephalitis
- Na-H exchanger 3 deficiency
- Nabais Sa-de Vries type 1 syndrome
- Nabais Sa-de Vries type 2 syndrome
- Nablus mask-like facial syndrome
- NAD(P)HX dehydratase deficiency
- NAD(P)HX epimerase deficiency
- NAE
- Naegeli syndrome
- Naegeli-Franceschetti-Jadassohn syndrome
- Naevus syringocystadenomatosus papilliferus
- NAFD
- NAGA deficiency
- NAGA deficiency type 1
- NAGA deficiency type 2
- NAGA deficiency type 3
- Nager acrofacial dysostosis
- Nager syndrome
- NAGS deficiency
- Naguib-Richieri-Costa syndrome
- Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
- Nail anomaly
- Nail-patella syndrome
- Nail-patella-like renal disease
- NAIT
- Naito-Oyanagi disease
- Najjar syndrome
- Nakagawa angioblastoma
- Nakamura-Osame syndrome
- NALD
- NAM
- Nance-Horan syndrome
- Nanophthalmia
- Nanophthalmos
- Nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
- NAO syndrome
- NAPS12
- Narcolepsy
- Narcolepsy type 1
- Narcolepsy type 2
- Narcolepsy with or without cataplexy
- Narcolepsy without cataplexy
- Narcolepsy-cataplexy
- NARP syndrome
- Nasal dermoid cyst
- Nasal dermoid sinus cyst
- Nasal dorsum fistula
- Nasal encephalocele
- Nasal ganglioglioma
- Nasal glial heterotopia
- Nasal glioma
- Nasal T/natural killer-cell lymphoma
- Nasodigitoacoustic syndrome
- Nasolacrimal duct cyst
- Nasolacrimal mucocele
- Nasopalpebral lipoma-coloboma syndrome
- Nasopharyngeal carcinoma
- Nasopharyngeal teratoma
- Nasu-Hakola disease
- Nathalie syndrome
- Native American myopathy
- Navajo brainstem syndrome
- Navajo neurohepatopathy
- Navajo neuropathy
- Naxos disease
- Naxos syndrome
- NBCCS
- NBIA
- NBIA due to C19orf12 mutation
- NBIA1
- NBIA1, atypical form
- NBIA1, classic form
- NBIA4
- NBIA5
- NBIA6
- NBS
- NBS-like disorder
- NBSLD
- NCHI
- NCKAP1L-associated hyperinflammatory disorder
- NCL
- NCL disease
- NCL, Northern epilepsy variant
- NCM
- NCMD
- NCP
- NCRNA disease
- NCS
- NDE1-related microhydranencephaly
- NDM
- Near total absence of cerebellum
- Nebulin-related early-onset distal myopathy
- Necrobiosis lipoidica
- Necrobiotic xanthogranuloma
- Necrolytic acral erythema
- Necrotizing autoimmune myositis
- Necrotizing enterocolitis
- Necrotizing soft tissue infection
- NEDMABA disorder
- NEHI
- NEK9-related lethal skeletal dysplasia
- Nelson syndrome
- NEM
- Nemaline myopathy
- Nemaline rod myopathy
- NEN of appendix
- NEN of esophagus
- Neonatal acute respiratory distress due to surfactant protein deficiency
- Neonatal acute respiratory distress syndrome
- Neonatal adrenoleukodystrophy
- Neonatal AHA
- Neonatal AIHA
- Neonatal alloimmune neutropenia
- Neonatal antiphospholipid antibody syndrome
- Neonatal antiphospholipid syndrome
- Neonatal autoimmune hemolytic anemia
- Neonatal brainstem dysfunction
- Neonatal Canavan disease
- Neonatal compartment syndrome
- Neonatal congenital pancreatic cyst
- Neonatal dermatomyositis
- Neonatal diabetes mellitus
- Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome
- Neonatal DM
- Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
- Neonatal epileptic encephalopathy due to glutaminase deficiency
- Neonatal focal intestinal perforation
- Neonatal glomerulopathy due to neprilysin alloimmunization
- Neonatal glycine encephalopathy
- Neonatal hemochromatosis
- Neonatal Hughes syndrome
- Neonatal hypoxic and ischemic brain injury
- Neonatal ichthyosis-sclerosing cholangitis syndrome
- Neonatal inflammatory skin and bowel disease
- Neonatal intrahepatic cholestasis caused by citrin deficiency
- Neonatal intrahepatic cholestasis due to citrin deficiency
- Neonatal iodine exposure
- Neonatal lupus erythematosus
- Neonatal Marfan syndrome
- Neonatal membranous glomerulopathy with maternal NEP deficiency
- Neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency
- Neonatal MFS
- Neonatal multiple carboxylase deficiency
- Neonatal myasthenia gravis
- Neonatal NKH
- Neonatal non-ketotic hyperglycinemia
- Neonatal osseous dysplasia type 1
- Neonatal osteosclerotic dysplasia
- Neonatal progeroid syndrome
- Neonatal RDS
- Neonatal renal venous thrombosis
- Neonatal RVT
- Neonatal Schwartz-Jampel syndrome
- Neonatal scleroderma
- Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect
- Neonatal severe primary hyperparathyroidism
- Neonatal Volkmann ischemic contracture syndrome
- Neonatal-infantile onset epilepsy syndrome
- Neonatal-onset cytopenia-autoinflammation-rash episodes of hemophagocytic lymphohistiocytosis syndrome
- Neonatal-onset cytopenia-autoinflammation-rash episodes of HLH syndrome
- Neonatal-onset multisystem inflammatory disease
- Neoplastic hypereosinophilic syndrome
- Neovascular glaucoma
- Nephroblastoma
- Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome
- Nephrogenic diabetes insipidus
- Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome
- Nephrogenic fibrosing dermopathy
- Nephrogenic syndrome of inappropriate antidiuresis
- Nephrogenic systemic fibrosis
- Nephronophthisis
- Nephronophthisis with retinal dystrophy
- Nephronophthisis-hepatic fibrosis syndrome
- Nephropathy secondary to a storage or other metabolic disease
- Nephropathy-deafness-hyperparathyroidism syndrome
- Nephropathy-hearing loss-hyperparathyroidism syndrome
- Nephrosis-deafness-urinary tract-digital malformations syndrome
- Nephrosis-hearing loss-urinary tract-digital malformations syndrome
- Nephrosis-neuronal dysmigration syndrome
- Nephrotic syndrome without extrarenal manifestations
- Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome
- Nephrotic syndrome-hearing loss-epidermolysis bullosa syndrome
- NEPPK, Bothnia type
- NEPPK, Bothnian type
- NESCAV syndrome
- Nestor-Guillermo progeria syndrome
- NET of anal canal
- NET of stomach
- NET of the colon
- NET of the rectum
- NET of the small intestine
- Netherton syndrome
- Neu-Laxova syndrome
- Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency
- Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency
- Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency
- Neuhauser anomaly
- Neuhauser-Daly-Magnelli syndrome
- Neuhauser-Eichner-Opitz syndrome
- Neuhäuser syndrome
- Neumann tumor
- Neural tube closure defect
- Neural tube defect
- Neuralgic amyotrophy
- Neuralgic shoulder amyotrophy
- Neuraminidase deficiency with beta-galactosidase deficiency
- Neurenteric cyst
- Neurilemmoma
- Neurilemmomatosis
- Neurilemoma
- Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency
- Neuro-oculo-cardio-genito-urinary syndrome
- Neuro-ophthalmological disease
- Neuroacanthocytosis
- Neuroblastoma
- Neurocutaneous melanocytosis
- Neurocutaneous melanosis
- Neurocutaneous syndrome with epilepsy
- Neurocutaneous syndrome, Bicknell type
- Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
- Neurodegeneration with brain iron accumulation
- Neurodegeneration with brain iron accumulation due to C19orf12 mutation
- Neurodegeneration with brain iron accumulation due to COASY mutation
- Neurodegeneration with brain iron accumulation type 1
- Neurodegeneration with brain iron accumulation type 1, atypical form
- Neurodegeneration with brain iron accumulation type 1, classic form
- Neurodegeneration with brain iron accumulation type 4
- Neurodegeneration with brain iron accumulation type 5
- Neurodegeneration-spasticity-cerebellar atrophy-cortical visual impairment syndrome
- Neurodegenerative disease with chorea
- Neurodegenerative disease with dementia
- Neurodegenerative syndrome due to cerebral folate transport deficiency
- Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome
- Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome
- Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome
- Neurodevelopmental delay-hypotonia-cerebellar atrophy-cardiac conduction defects syndrome
- Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome
- Neurodevelopmental delay-intellectual disability-skeletal defects syndrome
- Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
- Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
- Neurodevelopmental disorder with hearing loss and spastic quadriplegia
- Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
- Neurodevelopmental disorder-hypotonia-stereotypic hand movements-impaired language
- Neurodevelopmental disorder-microcephaly-arthrogryposis-structural brain anomalies
- Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome
- Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome
- Neuroectodermal dysplasia, CHIME type
- Neuroectodermal melanolysosomal disease
- Neuroectodermal syndrome, Zunich type
- Neuroendocrine carcinoma of pancreas
- Neuroendocrine cell hyperplasia of infancy
- Neuroendocrine neoplasm
- Neuroendocrine neoplasm of appendix
- Neuroendocrine neoplasm of esophagus
- Neuroendocrine neoplasm of pancreas
- Neuroendocrine neoplasm of the colon
- Neuroendocrine neoplasm of the small intestine
- Neuroendocrine tumor of anal canal
- Neuroendocrine tumor of pancreas
- Neuroendocrine tumor of small bowel
- Neuroendocrine tumor of stomach
- Neuroendocrine tumor of the colon
- Neuroendocrine tumor of the rectum
- Neuroendocrine tumor of the small intestine
- Neuroendocrine tumor with other location
- Neurofaciodigitorenal syndrome
- Neuroferritinopathy
- Neurofibroma
- Neurofibromatosis 1-like syndrome
- Neurofibromatosis type 1
- Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
- Neurofibromatosis type 1 microdeletion syndrome
- Neurofibromatosis type 1-Noonan syndrome
- Neurofibromatosis-Noonan syndrome
- Neurofibromatosis/schwannomatosis
- Neurofibrosarcoma
- Neurogenic acroosteolysis
- Neurogenic arthrogryposis multiplex congenita
- Neurogenic cervical rib syndrome
- Neurogenic costoclavicular syndrome
- Neurogenic diabetes insipidus
- Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome
- Neurogenic sarcoma
- Neurogenic scapuloperoneal amyotrophy, New England type
- Neurogenic scapuloperoneal syndrome, Kaeser type
- Neurogenic thoracic outlet compression syndrome
- Neurogenic thoracic outlet syndrome
- Neurogenic TOS
- Neuroleptic malignant syndrome
- Neurologic Waardenburg-Shah syndrome
- Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect
- Neurological channelopathy of the central nervous system due to a genetic calcium channel defect
- Neurological channelopathy of the central nervous system due to a genetic chloride channel defect
- Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect
- Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect
- Neurological channelopathy of the central nervous system due to a genetic potassium channel defect
- Neurological channelopathy of the central nervous system due to a genetic sodium channel defect
- Neurological muscular channelopathy due to a genetic calcium channel defect
- Neurological muscular channelopathy due to a genetic chloride channel defect
- Neurological muscular channelopathy due to a genetic potassium channel defect
- Neurological muscular channelopathy due to a genetic ryanodine receptor defect
- Neurological muscular channelopathy due to a genetic sodium channel defect
- Neurolymphomatosis
- Neurometabolic disease
- Neurometabolic disorder due to serine deficiency
- Neuromuscular disease
- Neuromuscular disease with dilated cardiomyopathy
- Neuromuscular junction disease
- Neuromyelitis optica spectrum disorder
- Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies
- Neuromyelitis optica spectrum disorder with anti-aquaporin 4 antibodies
- Neuromyelitis optica spectrum disorder with anti-MOG antibodies
- Neuromyelitis optica spectrum disorder with anti-myelin oligodendrocyte glycoprotein antibodies
- Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies
- Neuromyelitis optica spectrum disorder without anti-Myelin oligodendrocyte glycoprotein and without anti-Aquaporin-4 antibodies
- Neuronal ceroid lipofuscinosis
- Neuronal ceroid lipofuscinosis type 1
- Neuronal ceroid lipofuscinosis type 10
- Neuronal ceroid lipofuscinosis type 11
- Neuronal ceroid lipofuscinosis type 12
- Neuronal ceroid lipofuscinosis type 13
- Neuronal ceroid lipofuscinosis type 2
- Neuronal ceroid lipofuscinosis type 3
- Neuronal ceroid lipofuscinosis type 4
- Neuronal ceroid lipofuscinosis type 5
- Neuronal ceroid lipofuscinosis type 6
- Neuronal ceroid lipofuscinosis type 7
- Neuronal ceroid lipofuscinosis type 8
- Neuronal ceroid lipofuscinosis, Northern epilepsy variant
- Neuronal intestinal pseudoobstruction
- Neuronal intranuclear inclusion disease
- Neuronal tumor
- Neurooculocardiogenitourinary syndrome
- Neuropathy associated with monoclonal IgM antibodies to myelin-associated glycoprotein
- Neuropathy with hearing impairment
- Neuropathy-ataxia-retinitis pigmentosa syndrome
- Neurosensory deafness with dilated cardiomyopathy
- Neurosensory hearing loss with dilated cardiomyopathy
- Neurotrophic keratitis
- Neurotrophic keratopathy
- Neurovascular malformation
- Neutral lipid storage disease
- Neutral lipid storage disease type M
- Neutral lipid storage disease with ichthyosis
- Neutral lipid storage disease with myopathy
- Neutral lipid storage disease with myopathy without ichthyosis
- Neutral lipid storage disease with severe cardiovascular involvement
- Neutropenia-monocytopenia-deafness syndrome
- Neutropenia-monocytopenia-hearing loss syndrome
- Neutrophil-specific granule deficiency
- Neutrophilic urticaria
- NEVADA syndrome
- Nevoid basal cell carcinoma syndrome
- Nevus comedonicus syndrome
- Nevus elasticus
- Nevus epidermicus verrucosus with angiodysplasia and aneurysms
- Nevus fuscocaeruleus acromiodeltoideus
- Nevus fusculoceruleus ophthalmomaxillaris
- Nevus of Ito
- Nevus of Ota
- Nevus sebaceus of Jadassohn
- Nevus sebaceus syndrome
- New-onset refractory status epilepticus
- Nezelof syndrome
- NF/SWN
- NF1 microdeletion syndrome
- NF1-like syndrome
- NFAT5 haploinsufficiency
- NFJ syndrome
- NFKB1-related immune dysregulation
- NFNS
- NFPA
- NFU1 deficiency
- NGCO
- NGLY1 deficiency
- NGLY1-CDDG
- NGPS
- NHD
- NHE3 deficiency
- NHEJ1 deficiency
- NHL
- NICCD
- NICH
- Nicolaides-Baraitser syndrome
- Nicolau syndrome
- Niemann-Pick disease type A
- Niemann-Pick disease type A/B
- Niemann-Pick disease type B
- Niemann-Pick disease type C
- Niemann-Pick disease type C, adult neurologic onset
- Niemann-Pick disease type C, classic form
- Niemann-Pick disease type C, juvenile neurologic onset
- Niemann-Pick disease type C, late infantile neurologic onset
- Niemann-Pick disease type C, severe early infantile neurologic onset
- Niemann-Pick disease type C, severe perinatal form
- Nievergelt syndrome
- Night blindness-skeletal anomalies-dysmorphism syndrome
- Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia
- NIHF
- nIHH
- Niikawa-Kuroki syndrome
- Nijmegen breakage syndrome
- Nijmegen breakage syndrome-like disorder
- NIK deficiency
- Nine Mile fever
- Nipah encephalitis
- Nipah fever
- Nipah virus disease
- NIPHS
- NISCH syndrome
- Nivelon-Nivelon-Mabille syndrome
- NK-cell enteropathy
- NK-cell large granular lymphocyte leukemia
- NK-cell LGL leukemia
- NK-cell lineage granular lymphocyte proliferative disorder
- NK/T-cell lymphoma
- NKA
- NKTCL
- NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
- NLPHL
- NLRC4-related autoinflammatory syndrome with macrophage activation syndrome
- NLRC4-related autoinflammatory syndrome with MAS
- NLRC4-related familial cold autoinflammatory syndrome
- NLRC4-related familial cold urticaria
- NLRC4-related infantile enterocolitis-autoinflammatory syndrome
- NLRC4-related macrophage activation syndrome
- NLRC4-related MAS
- NLRP12-associated hereditary periodic fever syndrome
- NLRP3-associated AID
- NLRP3-associated autoinflammatory disease
- NLRP3-associated autoinflammatory syndrome
- NLSDI
- NLSDM
- NM
- NMC
- NMDA receptor encephalitis
- NMDARE
- NMG
- NMOSD
- NMOSD with anti-AQP4 antibodies
- NMOSD with anti-MOG antibodies
- NMOSD without anti-MOG antibodies and without anti-AQP4 antibodies
- NMZL
- Noble-Bass-Sherman syndrome
- Nocardiosis
- NOCARH syndrome
- NOCGUS
- Nodal marginal zone B-cell lymphoma
- Nodal T-cell lymphoma with TFH phenotype
- Nodal T-follicular helper cell lymphoma, follicular type
- Nodal TFH lymphoma, follicular type
- Nodular cutaneous amyloidosis
- Nodular fasciitis
- Nodular lichen myxedematosus
- Nodular lymphocyte predominant Hodgkin lymphoma
- Nodular neuronal heterotopia
- Nodular non-suppurative panniculitis
- Nodular regenerative hyperplasia of the liver
- Nodular urticaria pigmentosa
- Nodulosis-arthropathy-osteolysis syndrome
- Noma
- NOMID syndrome
- Non histamine-induced angioedema
- Non progressive epilepsy and/or ataxia with myoclonus as a major feature
- Non-24-hour sleep-wake syndrome
- Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations
- Non-acquired combined pituitary hormone deficiency
- Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome
- Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
- Non-acquired isolated growth hormone deficiency
- Non-acquired panhypopituitarism
- Non-acquired pituitary hormone deficiency
- Non-amyloid fibrillary glomerulonephritis
- Non-amyloid fibrillary glomerulopathy
- Non-amyloid MIDD
- Non-amyloid monoclonal immunoglobulin deposition disease
- Non-bullous congenital ichthyosiform erythroderma
- Non-central nervous system-localized embryonal carcinoma
- Non-cerebral juvenile Gaucher disease
- Non-cirrhotic and non-tumoral portal vein thrombosis
- Non-cirrhotic nodulation
- Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
- Non-CNS-localized embryonal carcinoma
- Non-deforming osteogenesis imperfecta
- Non-distal deletion 10q syndrome
- Non-distal deletion 12q syndrome
- Non-distal duplication 10q syndrome
- Non-distal duplication 13q syndrome
- Non-distal duplication 9q syndrome
- Non-distal monosomy 10q
- Non-distal monosomy 12q
- Non-distal tetrasomy 15q
- Non-distal trisomy 10q
- Non-distal trisomy 13q
- Non-distal trisomy 9q
- Non-DS-AMKL
- Non-dysgerminomatous germ cell cancer of ovary
- Non-dysgerminomatous germ cell tumor of testis
- Non-dystrophic myopathy
- Non-epithelial cancer of ovary
- Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome
- Non-familial dilated cardiomyopathy
- Non-familial hypertrophic cardiomyopathy
- Non-familial rare disease with dilated cardiomyopathy
- Non-familial restrictive cardiomyopathy
- Non-fibrotic hypersensitivity pneumonitis
- Non-fluent variant PPA
- Non-functioning neuroendocrine tumor of pancreas
- Non-functioning pancreatic NET
- Non-functioning pancreatic neuroendocrine tumor
- Non-functioning paraganglioma
- Non-functioning pituitary adenoma
- Non-functioning PNET
- Non-functioning well-differentiated NEN of pancreas
- Non-functioning well-differentiated neuroendocrine neoplasm of pancreas
- Non-functioning well-differentiated pancreatic NEN
- Non-functioning well-differentiated pancreatic neuroendocrine neoplasm
- Non-genetic cardiac rhythm disease
- Non-genetic central precocious puberty in boy
- Non-genetic central precocious puberty in male
- Non-genetic CPP in boy
- Non-genetic CPP in male
- Non-genetic systemic disease with glomerulopathy as a major feature
- Non-giant cell granulomatous temporal arteritis with eosinophilia
- Non-hereditary degenerative ataxia
- Non-hereditary retinoblastoma
- Non-HFE-related hemochromatosis
- Non-histaminic angioedema
- Non-Hodgkin lymphoma
- Non-hypoproteinemic hypertrophic gastropathy
- Non-Ig-mediated membranoproliferative glomerulonephritis
- Non-Ig-mediated MPGN
- Non-immune fetal edema
- Non-immune fetal hydrops
- Non-immune HF
- Non-immune hydrops fetalis
- Non-immunoglobulin-mediated membranoproliferative glomerulonephritis
- Non-immunoglobulin-mediated MPGN
- Non-infectious anterior uveitis
- Non-infectious choroiditis
- Non-infectious iridocyclitis
- Non-infectious posterior uveitis
- Non-inflammatory generalized peeling skin syndrome type A.
- Non-inflammatory peeling skin syndrome type A
- Non-inflammatory vasculopathy
- Non-insulinoma pancreatogenous hypoglycemia syndrome
- Non-involuting congenital hemangioma
- Non-ketotic hyperglycinemia
- Non-Langerhans cell histiocytosis
- Non-Leber type optic atrophy with early-onset
- Non-malignant and non-cirrhotic portal vein thrombosis
- Non-malignant non-cirrhotic PVT
- Non-nephropathic cystinosis
- Non-neurogenic neurogenic bladder
- Non-papillary transitional cell carcinoma of the bladder
- Non-papillary urothelial carcinoma
- Non-paraneoplastic sensory ganglionopathy
- Non-paraneoplastic sensory neuronopathy
- Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia
- Non-PKU HPA
- Non-pneumonic Legionnaires' disease
- Non-progressive cerebellar ataxia with intellectual disability
- Non-progressive cerebellar ataxia-intellectual disability syndrome
- Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
- Non-recovering OBPI
- Non-recovering OBPL
- Non-recovering obstetric brachial plexus lesion
- Non-rhizomelic chondrodysplasia punctata
- Non-saccular LDM
- Non-saccular limited dorsal myeloschisis
- Non-SCID
- Non-secreting paraganglioma
- Non-seminomatous germ cell tumor of testis
- Non-severe combined immunodeficiency
- Non-specific autoimmune brainstem encephalitis with characteristic antibodies
- Non-specific autoimmune brainstem encephalitis without characteristic antibodies
- Non-specific autoimmune CA with characteristic antibodies
- Non-specific autoimmune CA without characteristic antibodies
- Non-specific autoimmune cerebellar ataxia with characteristic antibodies
- Non-specific autoimmune cerebellar ataxia without characteristic antibodies
- Non-specific autoimmune rhombencephalitis with characteristic antibodies
- Non-specific autoimmune rhombencephalitis without characteristic antibodies
- Non-specific autoimmune rhomboencephalitis with characteristic antibodies
- Non-specific autoimmune rhomboencephalitis without characteristic antibodies
- Non-specific autoimmune supratentorial encephalitis with characteristic antibodies
- Non-specific autoimmune supratentorial encephalitis without characteristic antibodies
- Non-specific early-onset epileptic encephalopathy
- Non-specific EOEE
- Non-specific idiopathic interstitial pneumonia
- Non-specific interstitial pneumonia
- Non-specific myositis
- Non-specific supratentorial AE with characteristic antibodies
- Non-specific supratentorial AE without characteristic antibodies
- Non-specific syndromic intellectual disability
- Non-spherocytic hemolytic anemia due to hexokinase deficiency
- Non-syndromic accessory kidneys
- Non-syndromic accessory kydney
- Non-syndromic agammaglobulinemia
- Non-syndromic agammaglobulinemia, non-Bruton type
- Non-syndromic amelia
- Non-syndromic anorectal malformation
- Non-syndromic anorectal malformation with anal stenosis
- Non-syndromic anorectal malformation with bladder neck fistula
- Non-syndromic anorectal malformation with cutaneous fistula
- Non-syndromic anorectal malformation with H-type fistula
- Non-syndromic anorectal malformation with no fistula
- Non-syndromic anorectal malformation with perineal fistula
- Non-syndromic anorectal malformation with pouch colon
- Non-syndromic anorectal malformation with rectal atresia
- Non-syndromic anorectal malformation with rectal stenosis
- Non-syndromic anorectal malformation with rectobulbar fistula
- Non-syndromic anorectal malformation with rectoprostatic fistula
- Non-syndromic anorectal malformation with rectourethral fistula
- Non-syndromic anorectal malformation with rectourethral fistula, bulbar type
- Non-syndromic anorectal malformation with rectourethral fistula, prostatic type
- Non-syndromic anorectal malformation with rectovaginal fistula
- Non-syndromic anorectal malformation with rectovesical fistula
- Non-syndromic anorectal malformation with vestibular fistula
- Non-syndromic anorectal malformation without fistula
- Non-syndromic anterior synostotic plagiocephaly
- Non-syndromic ARM
- Non-syndromic ARM with anal stenosis
- Non-syndromic ARM with bladder neck fistula
- Non-syndromic ARM with cutaneous fistula
- Non-syndromic ARM with H-type fistula
- Non-syndromic ARM with perineal fistula
- Non-syndromic ARM with pouch colon
- Non-syndromic ARM with rectal atresia
- Non-syndromic ARM with rectal stenosis
- Non-syndromic ARM with rectobulbar fistula
- Non-syndromic ARM with rectoprostatic fistula
- Non-syndromic ARM with rectourethral fistula
- Non-syndromic ARM with rectourethral fistula, bulbar type
- Non-syndromic ARM with rectourethral fistula, prostatic type
- Non-syndromic ARM with rectovaginal fistula
- Non-syndromic ARM with rectovesical fistula
- Non-syndromic ARM with vestibular fistula
- Non-syndromic ARM without fistula
- Non-syndromic bicoronal and metopic craniosynostosis
- Non-syndromic bicoronal and sagittal craniosynostosis
- Non-syndromic bicoronal craniosynostosis
- Non-syndromic bilambdoid and sagittal craniosynostosis
- Non-syndromic bilambdoid craniosynostosis
- Non-syndromic bilateral coronal and metopic suture synostosis
- Non-syndromic bilateral coronal suture synostosis
- Non-syndromic bilateral lambdoid synostosis
- Non-syndromic biliary atresia
- Non-syndromic brain malformation
- Non-syndromic bridging bronchus
- Non-syndromic CBA
- Non-syndromic central nervous system malformation
- Non-syndromic cerebral malformation
- Non-syndromic cerebral malformation due to abnormal neuronal migration
- Non-syndromic cloacal malformation
- Non-syndromic complete hemimelia
- Non-syndromic complex polydactyly
- Non-syndromic congenital bronchial atresia
- Non-syndromic congenital functional defect of phagocytes
- Non-syndromic congenital phagocyte functional defect
- Non-syndromic congenital retinal non-attachment
- Non-syndromic congenital sodium diarrhea
- Non-syndromic congenital tufting enteropathy
- Non-syndromic constitutional functional phagocyte defect
- Non-syndromic constitutional thrombocytopenia
- Non-syndromic craniosynostosis
- Non-syndromic dentinogenesis imperfecta
- Non-syndromic DGI
- Non-syndromic diaphragmatic or abdominal wall malformation
- Non-syndromic diaphragmatic or thoracic malformation
- Non-syndromic esophageal malformation
- Non-syndromic familial congenital lower lip pits
- Non-syndromic frontoparietal craniosynostosis
- Non-syndromic gastroduodenal malformation
- Non-syndromic genetic deafness
- Non-syndromic genetic hearing loss
- Non-syndromic hemicoronal craniosynostosis
- Non-syndromic hemimelia
- Non-syndromic hypogammaglobulinemia
- Non-syndromic hypogammaglobulinemia
- Non-syndromic intercalary limb defects
- Non-syndromic intercalary meromelia
- Non-syndromic intestinal malformation
- Non-syndromic joint formation defects
- Non-syndromic limb hypoplasia
- Non-syndromic limb malformation
- Non-syndromic limb overgrowth
- Non-syndromic limb reduction defect
- Non-syndromic longitudinal limb defect
- Non-syndromic longitudinal meromelia
- Non-syndromic male infertility due asthenozoospermia
- Non-syndromic male infertility due to sperm motility disorder
- Non-syndromic metopic and sagittal craniosynostosis
- Non-syndromic metopic and sagittal suture synostosis
- Non-syndromic metopic craniosynostosis
- Non-syndromic metopic suture synostosis
- Non-syndromic multiple suture synostosis
- Non-syndromic multisutural craniosynostosis
- Non-syndromic non-specific multiple suture synostosis
- Non-syndromic non-specific multisutural craniosynostosis
- Non-syndromic pansynostosis
- Non-syndromic polydactyly
- Non-syndromic polydactyly, syndactyly and/or hyperphalangy
- Non-syndromic pontocerebellar hypoplasia
- Non-syndromic postaxial polydactyly
- Non-syndromic posterior hypospadias
- Non-syndromic posterior synostotic plagiocephaly
- Non-syndromic preaxial polydactyly
- Non-syndromic renal or urinary tract malformation
- Non-syndromic respiratory or mediastinal malformation
- Non-syndromic reticular dysgenesis
- Non-syndromic sagittal and bilateral coronal synostosis
- Non-syndromic sagittal and bilateral lambdoid synostosis
- Non-syndromic sagittal craniosynostosis
- Non-syndromic sagittal suture synostosis
- Non-syndromic single suture synostosis
- Non-syndromic supernumerary kidney
- Non-syndromic supernumerary kidneys
- Non-syndromic syndactyly
- Non-syndromic synostosis of all cranial vault sutures
- Non-syndromic terminal transverse limb defect
- Non-syndromic unicoronal and sagittal craniosynostosis
- Non-syndromic unicoronal craniosynostosis
- Non-syndromic unifrontosphenoidal craniosynostosis
- Non-syndromic unilambdoid craniosynostosis
- Non-syndromic unilateral coronal and sagittal suture synostosis
- Non-syndromic unilateral coronal synostosis
- Non-syndromic unilateral frontosphenoidal suture synostosis
- Non-syndromic unilateral lambdoid synostosis
- Non-syndromic unilateral squamosal suture synostosis
- Non-syndromic unisquamosal craniosynostosis
- Non-syndromic unisutural craniosynostosis
- Non-syndromic urogenital tract malformation
- Non-syndromic urogenital tract malformation of female
- Non-syndromic urogenital tract malformation of male
- Non-syndromic urogenital tract malformation of male and female
- Non-syndromic uterovaginal malformation
- Non-syndromic visceral malformation
- Non-telomeric monosomy 10q
- Non-telomeric monosomy 12q
- Non-telomeric tetrasomy 15q
- Non-telomeric trisomy 10q
- Non-telomeric trisomy 13q
- Non-telomeric trisomy 9q
- Non-terminal myelocystocele
- Non-transplant-related bronchiolitis obliterans
- Non-tuberculous mycobacterial lung disease
- Non-Wilsonian hepatic copper toxicosis of infancy and childhood
- Nonaka myopathy
- Nonmosaic Legius syndrome
- Nonmosaic LGSS
- Nonmosaic neurofibromatosis type 1
- Nonmosaic neurofibromatosis type 2
- Nonmosaic NF1
- Nonmosaic NF2-related schwannomatosis
- Nonmosaic schwannomatosis
- Nonne-Milroy lymphedema
- Noonan syndrome
- Noonan syndrome and Noonan-related syndrome
- Noonan syndrome with multiple lentigines
- Noonan syndrome-like disorder with JMML
- Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
- Noonan syndrome-like disorder with loose anagen hair
- Norman disease
- Norman-Landing disease
- Normomorphic sialidosis
- Normosmic congenital hypogonadotropic hypogonadism
- Normosmic idiopathic hypogonadotropic hypogonadism
- Norrie disease
- Norrie-Warburg disease
- NORSE
- North Carolina macular dystrophy
- North Carolina macular dystrophy, retinal 1
- North Sea progressive myoclonus epilepsy
- Northern epilepsy
- Norum disease
- Nose and cavum anomaly
- Notochordal sarcoma
- Nova syndrome
- NPD-A
- NPD-A/B
- NPD-B
- NPHP3-related Meckel-like syndrome
- NR1H4 deficiency
- NR4A2-related neurodevelopmental syndrome
- NRVT
- NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance
- NS
- NS-ARID
- NS/LAH
- NSD2-related syndrome
- NSHPT
- NSIAD
- NSIP
- NSTI
- nTFHL-F
- NTHL1-related AFAP
- NTHL1-related attenuated familial adenomatous polyposis
- NTHL1-related attenuated FAP
- NTOS
- Nude/SCID
- Nude/severe combined immunodeficiency
- Null pituitary adenoma
- Null syndrome
- NUT midline carcinoma