N
-
Nablus mask-like facial 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-L-amino acid amidohydrolase deficiency
-
NAD(P)HX dehydratase deficiency
-
NAD(P)HX epimerase deficiency
-
NAE
-
Naegeli-Franceschetti-Jadassohn syndrome
-
Naegeli 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
-
Na-H exchange deficiency
-
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
-
Nail anomaly
-
Nail-patella-like renal disease
-
Nail-patella syndrome
-
Nails-only DDEB
-
NAIT
-
Naito-Oyanagi disease
-
Najjar syndrome
-
Nakagawa angioblastoma
-
Nakajo-Nishimura syndrome
-
Nakamura-Osame syndrome
-
NALD
-
NAM
-
Nance deafness
-
Nance-Horan syndrome
-
Nanophtalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
-
Nanophthalmia
-
Nanophthalmos
-
NAO syndrome
-
NAPS12
-
Narcolepsy-cataplexy
-
Narcolepsy type 1
-
Narcolepsy type 2
-
Narcolepsy without 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
-
NBCCS
-
NBIA
-
NBIA1
-
NBIA1, atypical form
-
NBIA1, classic form
-
NBIA4
-
NBIA5
-
NBIA6
-
NBIA due to C19orf12 mutation
-
NBS
-
NBSLD
-
NBS-like disorder
-
NCHI
-
NCL
-
NCL, Northern epilepsy variant
-
NCM
-
NCMD
-
NCRNA disease
-
NDE1-related microhydranencephaly
-
NDM
-
Near total absence of cerebellum
-
Nebulin-related early-onset distal myopathy
-
Necrobiosis lipoidica
-
Necrobiotic xanthogranuloma
-
Necrolytic acral erythema
-
Necrotizing enterocolitis
-
Necrotizing soft tissue infection
-
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 SP-B deficiency
-
Neonatal acute respiratory distress due to surfactant protein B deficiency
-
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 congenital pancreatic cyst
-
Neonatal dermatomyositis
-
Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome
-
Neonatal diabetes mellitus
-
Neonatal DM
-
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
-
Neonatal epilepsy syndrome
-
Neonatal epileptic encephalopathy due to glutaminase deficiency
-
Neonatal glomerulopathy due to Neprilysin alloimmunization
-
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-onset multisystem inflammatory disease
-
Neonatal osseous dysplasia type 1
-
Neonatal osteosclerotic dysplasia
-
Neonatal progeroid syndrome
-
Neonatal respiratory distress syndrome
-
Neonatal Schwartz-Jampel syndrome
-
Neonatal scleroderma
-
Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect
-
Neonatal severe primary hyperparathyroidism
-
Neoplastic hypereosinophilic syndrome
-
Neovascular glaucoma
-
Nephroblastoma
-
Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome
-
Nephrogenic diabetes insipidus
-
Nephrogenic diabetes insipidus-intracranial calcification syndrome
-
Nephrogenic fibrosing dermopathy
-
Nephrogenic syndrome of inappropriate antidiuresis
-
Nephrogenic systemic fibrosis
-
Nephrolithiasis type 1
-
Nephrolithiasis type 2
-
Nephronophthisis
-
Nephronophthisis-hepatic fibrosis syndrome
-
Nephronophthisis with retinal dystrophy
-
Nephropathic infantile cystinosis
-
Nephropathy-associated ciliopathy
-
Nephropathy-deafness-hyperparathyroidism syndrome
-
Nephropathy secondary to a storage or other metabolic disease
-
Nephrosis-deafness-urinary tract-digital malformations syndrome
-
Nephrosis-neuronal dysmigration syndrome
-
Nephrotic syndrome-deafness-pretibial epidermolysis bullosa syndrome
-
Nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome
-
NEPPK
-
Nestor-Guillermo progeria syndrome
-
Netherton syndrome
-
NET of anal canal
-
NET of stomach
-
NET of the colon
-
NET of the rectum
-
NET of the small intestine
-
Neuhauser anomaly
-
Neuhauser-Daly-Magnelli syndrome
-
Neuhauser-Eichner-Opitz syndrome
-
Neuhäuser syndrome
-
Neu-Laxova syndrome
-
Neumann tumor
-
Neuralgic amyotrophy
-
Neuralgic shoulder amyotrophy
-
Neural tube closure defect
-
Neural tube defect
-
Neuraminidase deficiency with beta-galactosidase deficiency
-
Neurenteric cyst
-
Neurilemmoma
-
Neurilemmomatosis
-
Neurilemoma
-
Neuroacanthocytosis
-
Neuroblastoma
-
Neurocutaneous melanocytosis
-
Neurocutaneous melanosis
-
Neurocutaneous syndrome, Bicknell type
-
Neurocutaneous syndrome with epilepsy
-
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
-
Neurodegenerative disease with chorea
-
Neurodegenerative disease with dementia
-
Neurodegenerative syndrome due to cerebral folate transport deficiency
-
Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy 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
-
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
-
Neuroepithelioma
-
Neurofaciodigitorenal syndrome
-
Neuroferritinopathy
-
Neurofibroma
-
Neurofibromatosis 1-like syndrome
-
Neurofibromatosis-Noonan 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 type 2
-
Neurofibromatosis type 3
-
Neurofibromatosis type 6
-
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 palpebral tumor
-
Neurogenic sarcoma
-
Neurogenic scapuloperoneal amyotrophy, New England type
-
Neurogenic scapuloperoneal syndrome, Kaeser type
-
Neurogenic thoracic outlet compression syndrome
-
Neurogenic thoracic outlet syndrome
-
Neurogenic TOS
-
Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency
-
Neuroleptic malignant syndrome
-
Neurolipomatosis
-
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 conditions associated with aminoacylase 1 deficiency
-
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
-
Neurologic Waardenburg-Shah syndrome
-
Neurolymphomatosis
-
Neurometabolic disease
-
Neurometabolic disorder due to serine deficiency
-
Neuromuscular disease
-
Neuromuscular disease with dilated cardiomyopathy
-
Neuromuscular junction disease
-
Neuromyelitis optica
-
Neuronal ceroid lipofuscinosis
-
Neuronal ceroid lipofuscinosis, Northern epilepsy variant
-
Neuronal intestinal pseudoobstruction
-
Neuronal intranuclear inclusion disease
-
Neuronal tumor
-
Neuro-ophthalmological disease
-
Neuropathy associated with monoclonal IgM antibodies to myelin-associated glycoprotein
-
Neuropathy-ataxia-retinitis pigmentosa syndrome
-
Neuropathy with hearing impairment
-
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 with ichthyosis
-
Neutral lipid storage disease with myopathy without ichthyosis
-
Neutral lipid storage myopathy
-
Neutral lipid storage myopathy with severe cardiac involvement
-
Neutropenia-monocytopenia-deafness syndrome
-
Neutrophilic urticaria
-
Neutrophil immunodeficiency syndrome
-
Neutrophil-specific granule deficiency
-
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
-
NF1
-
NF1-like syndrome
-
NF1 microdeletion syndrome
-
NF2
-
NF3
-
NF6
-
NFAT5 haploinsufficiency
-
NFJ syndrome
-
NFNS
-
NFPA
-
NFU1 deficiency
-
NGCO
-
NGLY1-CDDG
-
NGLY1 deficiency
-
NGPS
-
NHD
-
NHEJ1 deficiency
-
NHL
-
NICCD
-
NICH
-
Nicolaides-Baraitser syndrome
-
Niemann-Pick disease type A
-
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
-
nIHH
-
Niikawa-Kuroki syndrome
-
Nijmegen breakage syndrome
-
Nijmegen breakage syndrome-like disorder
-
NIK deficiency
-
Nine Mile fever
-
Nipah encephalitis
-
Nipah fever
-
Nipah virus disease
-
NI-PHH
-
NISCH syndrome
-
Nivelon-Nivelon-Mabille syndrome
-
NKA
-
NK-cell enteropathy
-
NK-cell large granular lymphocyte leukemia
-
NK-cell LGL leukemia
-
NK-cell lineage granular lymphocyte proliferative disorder
-
NK/T-cell lymphoma
-
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 infantile enterocolitis-autoinflammatory syndrome
-
NLRC4-related macrophage activation syndrome
-
NLRC4-related MAS
-
NLRP12-associated hereditary periodic fever syndrome
-
NLSDI
-
NLSDM
-
NM
-
NMC
-
NMG
-
NMZL
-
NNS
-
Noble-Bass-Sherman syndrome
-
Nocardiosis
-
Nodal marginal zone B-cell lymphoma
-
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-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 pituitary hormone deficiency
-
Non-acquired premature ovarian failure
-
Nonaka myopathy
-
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 nodulation
-
Non-cirrhotic portal vein thrombosis
-
Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
-
Non-CNS-localized embryonal carcinoma
-
Non-deforming osteogenesis imperfecta
-
Non-distal deletion 10q
-
Non-distal deletion 12q
-
Non-distal deletion 20q
-
Non-distal duplication 10q
-
Non-distal duplication 13q
-
Non-distal duplication 9q
-
Non-distal monosomy 10q
-
Non-distal monosomy 12q
-
Non-distal monosomy 20q
-
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-epidermolytic palmoplantar keratoderma
-
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-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-giant cell granulomatous temporal arteritis with eosinophilia
-
Non-hereditary degenerative ataxia
-
Non-hereditary retinoblastoma
-
Non-herpetic acute limbic encephalitis
-
Non histamine-induced angioedema
-
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-involuting congenital hemangioma
-
Non-ketotic hyperglycinemia
-
Non-Langerhans cell histiocytosis
-
Non-Leber type optic atrophy with early-onset
-
Nonne-Milroy lymphedema
-
Non-nephropathic cystinosis
-
Non-neurogenic neurogenic bladder
-
Non-papillary transitional cell carcinoma of the bladder
-
Non-papillary urothelial carcinoma
-
Non-paraneoplastic limbic encephalitis
-
Non-paraneoplastic sensory ganglionopathy
-
Non-paraneoplastic sensory neuronopathy
-
Non-phenylketonuric hyperphenylalaninemia
-
Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia
-
Non-PKU HPA
-
Non-progressive cerebellar ataxia-intellectual disability syndrome
-
Non-progressive cerebellar ataxia with intellectual disability
-
Non progressive epilepsy and/or ataxia with myoclonus as a major feature
-
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-SCID
-
Non-secreting chemodectoma
-
Non-secreting paraganglioma
-
Non-seminomatous germ cell tumor of testis
-
Non-severe combined immunodeficiency
-
Non-specific idiopathic interstitial pneumonia
-
Non-specific interstitial pneumonia
-
Non-specific myositis
-
Non-specific syndromic intellectual disability
-
Non-spherocytic hemolytic anemia due to hexokinase deficiency
-
Non-syndromic bicoronal synostosis
-
Non-syndromic biliary atresia
-
Non-syndromic central nervous system malformation
-
Non-syndromic cerebral malformation due to abnormal neuronal migration
-
Non-syndromic complex polydactyly
-
Non-syndromic congenital retinal non-attachment
-
Non-syndromic congenital sodium diarrhea
-
Non-syndromic congenital tufting enteropathy
-
Non-syndromic constitutional thrombocytopenia
-
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 gastroduodenal malformation
-
Non-syndromic genetic deafness
-
Non-syndromic intestinal malformation
-
Non-syndromic limb hypoplasia
-
Non-syndromic limb malformation
-
Non syndromic limb overgrowth
-
Non-syndromic limb reduction defect
-
Non-syndromic male infertility due asthenozoospermia
-
Non-syndromic male infertility due to sperm motility disorder
-
Non-syndromic metopic craniosynostosis
-
Non-syndromic polydactyly
-
Non-syndromic polydactyly, syndactyly and/or hyperphalangy
-
Non-syndromic pontocerebellar hypoplasia
-
Non-syndromic postaxial polydactyly
-
Non-syndromic preaxial polydactyly
-
Non-syndromic renal or urinary tract malformation
-
Non-syndromic respiratory or mediastinal malformation
-
Non-syndromic sagittal synostosis
-
Non-syndromic syndactyly
-
Non-syndromic unicoronal synostosis
-
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 monosomy 20q
-
Non-telomeric tetrasomy 15q
-
Non-telomeric trisomy 10q
-
Non-telomeric trisomy 13q
-
Non-telomeric trisomy 9q
-
Non-tuberculous mycobacterial lung disease
-
Non-Wilsonian hepatic copper toxicosis of infancy and childhood
-
Non-X-linked CDG with intellectual disability as a major feature
-
Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature
-
Noonan syndrome
-
Noonan syndrome and Noonan-related syndrome
-
Noonan syndrome-like disorder with JMML
-
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
-
Noonan syndrome-like disorder with loose anagen hair
-
Noonan syndrome with multiple lentigines
-
Noradrenaline deficiency
-
Norepinephrine deficiency
-
Normal pressure hydrocephalus
-
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
-
Northern epilepsy
-
North Sea progressive myoclonus epilepsy
-
Norum disease
-
Nose and cavum anomaly
-
Notochordal sarcoma
-
Nova syndrome
-
NPH
-
NPHP3-related Meckel-like syndrome
-
NR1H4 deficiency
-
NS
-
NS-ARID
-
NSHPT
-
NSIAD
-
NSIP
-
NS/LAH
-
NSTI
-
N syndrome
-
NTHL1-related AFAP
-
NTHL1-related attenuated familial adenomatous polyposis
-
NTHL1-related attenuated FAP
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NTOS
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Null pituitary adenoma
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Null syndrome
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NUT midline carcinoma