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
NTOS
Null pituitary adenoma
Null syndrome
NUT midline carcinoma

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