See Rare Diseases by First Letter (N)
- N-acetylglutamate Synthetase Deficiency
- Nail Patella Syndrome
- Narcolepsy
- Nasopharyngeal Carcinoma
- Necrotizing Enterocolitis
- Necrotizing Fasciitis
- Neisseria Meningitidis Infection
- Nelson Syndrome
- Neonatal Herpes
- Neonatal Hypothyroidism
- Neonatal Meningitis
- Neonatal Ovarian Cyst
- Neonatal Stroke
- Neonatal Systemic Lupus Erythematosus
- Nephrocalcinosis
- Nephrogenic Diabetes Insipidus
- Nephrogenic Systemic Fibrosis
- Nephropathic Cystinosis
- Nephrosclerosis
- Nerve Sheath Neoplasm
- Netherton Syndrome
- Neuroacanthocytosis
- Neuroblastoma
- Neuroepithelioma
- Neurofibroma
- Neurofibromatosis
- Neurofibromatosis Type 1
- Neurofibromatosis Type 2
- Neurofibrosarcoma
- Neurogenic Diabetes Insipidus
- Neuroleptic Malignant Syndrome
- Neuromyelitis Optica Spectrum Disorder
- Neuronal Ceroid Lipofuscinoses
- Neuropathy Hereditary Sensory and Autonomic Type 1
- Neurosyphilis
- Neurotoxicity Syndromes
- Neutral Lipid Storage Disease With Myopathy
- Nevoid Basal Cell Carcinoma Syndrome
- New Daily-persistent Headache
- Niemann-Pick Disease
- Niemann-Pick Disease Type B
- Niemann-Pick Disease Type C1
- Nodular Melanoma
- Nodular Regenerative Hyperplasia
- Non 24 Hour Sleep Wake Disorder
- Non-Hodgkin Lymphoma, Childhood
- Nonalcoholic Steatohepatitis
- Nonbullous Congenital Ichthyosiform Erythroderma
- Nondystrophic Myotonia
- Nonseminomatous Germ Cell Tumor
- Noonan Syndrome
- Noonan Syndrome 1
- Norrie Disease
- Notalgia Paresthetica