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Rare Disease Database

Search Results for: N

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Nager Syndrome

Also known as: acrofacial dysostosis, Nager Type, mandibulofacial dysostosis, Treacher Collins type, with limb anomalies, Nager acrofacial dysostosis, NAFD, preaxial acrofacial dysostosis

Nail Patella Syndrome

Also known as: Fong disease* , hereditary onychoosteodysplasia (HOOD), NPS, onychoosteodysplasia, Turner-Kieser syndrome, arthro-osteo-onychodysplasia

Nance-Horan Syndrome

Also known as: cataract-dental syndrome, cataract, X-linked, with Hutchinsonian teeth, Mesiodens-cataract syndrome, NHS


Also known as: Gelineau's syndrome, hypnolepsy, narcoleptic syndrome, paroxysmal sleep
Subdivisions: narcolepsy with cataplexy, narcolepsy without cataplexy

Necrotizing Fasciitis

Also known as: flesh-eating bacteria, flesh-eating disease, streptococcal gangrene, suppurative fasciitis

Nelson Syndrome

Also known as: ACTH-secreting pituitary adenoma, Pituitary Tumor after Adrenalectomy

Neonatal Cholestasis

Also known as: idiopathic neonatal hepatitis , neonatal giant cell hepatitis, intrahepatic cholestasis

Neonatal Hemochromatosis

Also known as: congenital hemochromatosis, neonatal iron storage disease
Subdivisions: No subdivisions found

Neonatal Lupus

Also known as: neonatal lupus erythematosus, congenital heart block , neonatal lupus syndrome

Nephrogenic Diabetes Insipidus

Also known as: acquired nephrogenic diabetes insipidus, congenital nephrogenic diabetes insipidus, hereditary nephrogenic diabetes insipidus, NDI, vasopressin-resistant diabetes insipidus


Also known as: Levine-Critchley syndrome
Subdivisions: chorea-acanthocytosis (choreoacanthocytosis), Huntingon's disease-like 2, McLeod syndrome, pantothenate kinase-associated neurodegeneration (PKAN)

Neurofibromatosis 1

Also known as: NF1, Von Recklinghausen's disease, Von Recklinghausen's neurofibromatosis
Subdivisions: segmental neurofibromatosis

Neurofibromatosis 2

Also known as: bilateral acoustic neurofibromatosis (BANF), central neurofibromatosis, NF2, neurofibromatosis type II

Neuromyelitis Optica Spectrum Disorder

Also known as: (Asian, Japanese) opticospinal MS, Devic disease, Devic syndrome, optic neuromyelitis, opticomyelitis, NMOSD
Subdivisions: NMOSD with aquaporin-4 antibodies, NMOSD without aquaporin-4 antibodies (or not tested)

Neuropathic Ocular Pain

Also known as: neuropathic dry eyes, neuropathic corneal pain, corneal neuropathy, corneal neuralgia, keratoneuralgia

Neuropathy, Congenital Hypomyelination

Also known as: Charcot-Marie-Tooth Type 4E, CHN, CMT4E, Congenital Dysmyelinating Neuropathy, Congenital Hypomyelinating Polyneuropathy, Congenital Hypomyelination, Congenital Hypomyelination Neuropathy, Congenital Hypomyelination (Onion Bulb), Polyneuropathy, Congenital Neuropathy caused by Hypomyelination, Hypomyelination Neuropathy

Nevus Sebaceus Syndrome

Also known as: Schimmelpenning syndrome, Jadassohn nevus phacomatosis, Jadassohn sebaceous nevus syndrome, linear sebaceous nevus sequence, Schimmelpenning-Feuerstein-Mims syndrome, epidermal nevus syndrome

NGLY1 Deficiency

Also known as: NGLY1-related congenital disorder of deglycosylation, NGLY1-CDDG, NGLY1-related disorder

Non-24-Hour Sleep-Wake Disorder

Also known as: circadian rhythm sleep disorder, free-running type, free-running disorder, hypernychthemeral syndrome, N24, non-24, non-24-hour disorder, non-24-hour sleep-wake cycle disorder, non-24-hour sleep-wake syndrome

Noonan Syndrome

Also known as: female pseudo-Turner syndrome, male Turner syndrome, NS, Turner phenotype with normal chromosomes (karyotype)

Norrie Disease

Also known as: atrophia bulborum hereditaria, Episkopi blindness, ND, NDP (Norrie disease pseudoglioma) , Norrie syndrome, Norrie-Warburg disease