This list of rare diseases was originally taken from the NIH public domain resource at http://ord.aspensys.com/asp/diseases/diseases.asp .

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

  • N acetyltransferase deficiency
  • N syndrome
  • N-acetyl glutamate synthetase deficiency
  • N-acetyl-alpha-D-galactosaminidase
  • N-acetyl-glucosamine-6-sulfate sulfatase deficiency
  • NADH CoQ reductase, deficiency of
  • NADH cytochrome B5 reductase deficiency
  • Naegeli syndrome
  • Naguib syndrome
  • Nail-patella syndrome
  • Nakajo Nishimura syndrome
  • Nakajo syndrome
  • Nakamura Osame syndrome
  • NAME syndrome
  • Nance-Horan syndrome
  • Nanism due to growth hormone combined deficiency
  • Nanism due to growth hormone isolated deficiency with X linked hypogammaglobulinemia
  • Nanism due to growth hormone resistance
  • Narcolepsy
  • Narcolepsy-Cataplexy
  • Narrow oral fissure short stature cone shaped epiphyses
  • Nasodigitoacoustic syndrome
  • Nasopalpebral lipoma coloboma syndrome
  • Nasopharyngeal carcinoma
  • Nasopharyngeal teratoma Dandy Walker diaphragmatic hernia
  • Natal teeth intestinal pseudoobstruction patent ductus
  • Nathalie syndrome
  • Native american myopathy
  • Navajo poikiloderma
  • Necrophobia
  • Necrotizing encephalopathy, infantile subacute
  • Necrotizing_fasciitis
  • Negative rheumatoid factor polyarthritis
  • Neisseria meningitidis
  • Nelson syndrome
  • Nemaline myopathy 1, Autosomal Dominant
  • Nemaline Myopathy 2, Autosomal Recessive
  • Nemaline Myopathy, Amish Type
  • Neonatal hemochromatosis
  • Neonatal hepatitis
  • Neonatal herpes
  • Neonatal ovarian cyst
  • Neonatal transient jaundice
  • Neopharmaphobia
  • Neophobia
  • Nephophobia
  • Nephroblastomatosis,fetal ascites,macrosomia and Wilm's tumor
  • Nephrocalcinosis
  • Nephrogenic diabetes insipidus
  • Nephrolithiasis type 2
  • Nephronophthisis familial adult spastic quadriparesis
  • Nephropathy deafness hyperparathyroidism
  • Nephropathy familial with hyperuricemia
  • Nephropathy, familial with gout
  • Nephrosclerosis
  • Nephrosis deafness urinary tract digital malformation
  • Nephrosis neuronal dysmigration syndrome
  • Nephrotic syndrome ocular anomalies
  • Nephrotic syndrome, idiopathic, steroid-resistant
  • Nerve sheath neoplasm
  • Nesidioblastosis of pancreas
  • Netherton syndrome ichthyosis
  • Neu Laxova syndrome
  • Neuhauser Daly Magnelli syndrome
  • Neuhauser Eichner Opitz syndrome
  • Neural crest tumor
  • Neural tube defect, folate-sensitive
  • Neural tube defects X linked
  • Neuraminidase beta-galactosidase deficiency
  • Neuraminidase deficiency
  • Neurasthenia
  • Neurilemmomatosis
  • Neuritis with brachial predilection
  • Neuroacanthocytosis
  • Neuroaxonal dystrophy renal tubular acidosis
  • Neuroaxonal dystrophy, late infantile
  • Neuroblastoma
  • Neurocutaneous melanosis
  • Neuroectodermal endocrine syndrome
  • Neuroectodermal tumors primitive
  • Neuroendocrine cancer
  • Neuroendocrine carcinoma of the cervix
  • Neuroendocrine tumor
  • Neuroepithelioma
  • Neurofaciodigitorenal syndrome
  • Neurofibrillary tangles
  • Neurofibroma
  • Neurofibromatosis type 2
  • Neurofibromatosis type 3
  • Neurofibromatosis type 6
  • Neurofibromatosis, familial intestinal
  • Neurofibromatosis, Type IV, of Riccardi
  • Neurofibromatosis-Noonan syndrome
  • Neurofibrosarcoma
  • Neurogenic hypertension
  • Neuroleptic malignant syndrome
  • Neuroma biliary tract
  • Neuronal heterotopia
  • Neuronal interstitial dysplasia
  • Neuronal intestinal pseudoobstruction
  • Neuronal intranuclear hyaline inclusion disease
  • Neuronal intranuclear inclusion disease
  • Neuropathy ataxia and retinis pigmentosa
  • Neuropathy congenital sensory neurotrophic keratitis
  • Neuropathy hereditary with liability to pressure palsies
  • Neuropathy motor sensory type 2 deafness mental retardation
  • Neuropathy sensory spastic paraplegia
  • Neuropathy, hereditary motor and sensory, LOM type
  • Neuropathy, hereditary sensory, type I
  • Neuropathy, hereditary sensory, type II
  • Neurotoxicity syndromes
  • Neutral lipid storage myopathy
  • Neutropenia intermittent
  • Neutropenia monocytopenia deafness
  • Neutropenia, severe chronic
  • Nevi flammei, familial multiple
  • Nevo syndrome
  • Nevoid basal cell carcinoma syndrome
  • Nevus of ota retinitis pigmentosa
  • Nevus sebaceus of Jadassohn
  • Nezelof's syndrome
  • Nicolaides Baraitser syndrome
  • Niemann-Pick C1 disease
  • Niemann-Pick C2 disease
  • Niemann-Pick disease type C
  • Niemann-Pick disease type D
  • Niemann-Pick Disease
  • Night blindness skeletal anomalies unusual facies
  • Night blindness, congenital stationary
  • Nijmegen Breakage Syndrome
  • Nivelon Nivelon Mabille syndrome
  • Noble Bass Sherman syndrome
  • Nocardiosis
  • Noise induced deafness
  • Noma
  • Non functioning pancreatic endocrine tumor
  • Nonallergic atopic dermatitis
  • Non-Hodgkin lymphoma
  • Noninsulin-dependent diabetes mellitus with deafness
  • Nonketotic hyperglycinemia
  • Non-lissencephalic cortical dysplasia
  • Nonmedullary thyroid carcinoma, with cell oxyphilia
  • Nonne-Milroy disease
  • Non-small cell lung cancer
  • Nonsyndromic hereditary hearing impairment
  • Noonan like syndrome
  • Noonan syndrome
  • Norman Roberts lissencephaly syndrome
  • Normokalemic periodic paralysis
  • Norrie disease
  • Northern epilepsy
  • Norum disease
  • Nose polyposis, familial
  • Nosocomephobia
  • Nosophobia
  • Notalgia paresthetica
  • Nova syndrome
  • Novak syndrome
  • Nuchal bleb, familial
  • Nut Hypersensitivity
  • Nyctophobia