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

  • I cell disease
  • IBIDS syndrome
  • ICF syndrome
  • Ichthyophobia
  • Ichthyosiform erythroderma corneal involvement deafness
  • Ichthyosis alopecia eclabion ectropion mental retardation
  • Ichthyosis and male hypogonadism
  • Ichthyosis bullosa of Siemens
  • Ichthyosis cheek eyebrow syndrome
  • Ichthyosis congenita biliary atresia
  • Ichthyosis deafness mental retardation skeletal anomaly
  • Ichthyosis follicularis atrichia photophobia syndrome
  • Ichthyosis hepatosplenomegaly cerebellar degeneration
  • Ichthyosis hystrix, Curth Macklin type
  • Ichthyosis linearis circumflexa
  • Ichthyosis male hypogonadism
  • Ichthyosis mental retardation Devriendt type
  • Ichthyosis mental retardation dwarfism renal impairment
  • Ichthyosis microphthalmos
  • Ichthyosis tapered fingers midline groove up
  • Ichthyosis vulgaris
  • Ichthyosis, erythrokeratolysis hemalis
  • Ichthyosis, keratosis follicularis spinulosa Decalvans
  • Ichthyosis, lamellar recessive
  • Ichthyosis, Netherton syndrome
  • Idaho syndrome
  • Idiopathic acute eosinophilic pneumonia
  • Idiopathic adolescent scoliosis
  • Idiopathic adult neutropenia
  • Idiopathic alveolar hypoventilation syndrome
  • Idiopathic congenital nystagmus, dominant, X- linked
  • Idiopathic diffuse interstitial fibrosis
  • Idiopathic dilatation of the pulmonary artery
  • Idiopathic dilation cardiomyopathy
  • Idiopathic double athetosis
  • Idiopathic edema
  • Idiopathic eosinophilic chronic pneumopathy
  • Idiopathic facial palsy
  • Idiopathic hypereosinophilic syndrome
  • Idiopathic infection caused by BCG or atypical mycobacteria
  • Idiopathic juvenile osteoporosis
  • Idiopathic pulmonary fibrosis
  • Idiopathic pulmonary hemosiderosis
  • Idiopathic sclerosing mesenteritis
  • Idiopathic thrombocytopenic purpura
  • Iduronate 2-sulfatase deficiency
  • IFAP syndrome
  • IgA deficiency
  • IGDA syndrome
  • Illum syndrome
  • Illyngophobia
  • Ilyina Amoashy Grygory syndrome
  • Imaizumi Kuroki syndrome
  • Iminoglycinuria
  • Immotile cilia syndrome, due to defective radial spokes
  • Immotile cilia syndrome, due to excessively long cilia
  • Immotile cilia syndrome, Kartagener type
  • Immune deficiency, familial variable
  • Immune thrombocytopenia
  • Immunodeficiency with short limb dwarfism
  • Immunodeficiency, microcephaly with normal intelligence
  • Imperforate anus
  • Imperforate oropharynx costo vetebral anomalies
  • Impossible syndrome
  • Inborn amino acid metabolism disorder
  • Inborn branched chain aminoaciduria
  • Inborn error of metabolism
  • Inborn metabolic disorder
  • Inborn renal aminoaciduria
  • Inborn urea cycle disorder
  • Incisors fused
  • Inclusion conjunctivitis
  • Incontinentia pigmenti type 1
  • Incontinentia pigmenti type 2
  • Incontinentia pigmenti
  • Indomethacin antenatal infection
  • Infant epilepsy with migrant focal crisis
  • Infantile apnea
  • Infantile axonal neuropathy
  • Infantile convulsions and paroxysmal choreoathetosis, familial
  • Infantile digital fibromatosis
  • Infantile dysphagia
  • Infantile multisystem inflammatory disease
  • Infantile myofibromatosis
  • Infantile onset spinocerebellar ataxia
  • Infantile recurrent chronic multifocal osteomyolitis
  • Infantile sialic acid storage disorder
  • Infantile spasms broad thumbs
  • Infantile spasms
  • Infantile spinal muscular atrophy
  • Infantile striato thalamic degeneration
  • Infectious arthritis
  • Infectious myocarditis
  • Infective endocarditis
  • Inflammatory breast cancer
  • Infundibulopelvic stenosis multicystic kidney
  • Insectophobia
  • Insensitivity to pain with anhidrosis
  • Instability mitotic non disjunction syndrome
  • Insulinoma
  • Insulin-resistance type B
  • Insulin-resistant acanthosis nigricans, type A
  • Intercellular cholesterol esterification disease
  • Interferon gamma, receptor 1, deficiency
  • Internal carotid agenesis
  • Interstitial cystitis
  • Interstitial pneumonia
  • Intestinal atresia multiple
  • Intestinal lipodystrophy
  • Intestinal malrotation facial anomalies familial type
  • Intestinal pseudoobstruction chronic idiopathic
  • Intestinal pseudo-obstruction
  • Intoeing
  • Intracranial aneurysms multiple congenital anomaly
  • Intracranial arterioveinous malformation
  • Intractable singultus
  • Intrathoracic kidney vertebral fusion
  • Intrauterine growth retardation mandibular malar hypoplasia
  • Intrauterine infections
  • Intrinsic factor, congenital deficiency of
  • Iodine antenatal infection
  • Iophobia
  • Iridocyclitis
  • Iridogoniodysgenesis, dominant type
  • Iris dysplasia hypertelorism deafness
  • Iritis
  • Irons Bhan syndrome
  • Isaacs Mertens syndrome
  • Isaacs syndrome
  • Ischiadic hypoplasia renal dysfunction immunodeficiency
  • Ischiopatellar dysplasia
  • Isosporosiasis
  • Isotretinoin embryopathy
  • Isthmian coarctation
  • Ivemark syndrome
  • Ivic Syndrome