Rare Diseases and Related Terms
Rare diseases terms are either (1) terms for which information requests have
been made to the Office of Rare Diseases Research, the Genetic and Rare Diseases
Information Center, or the National Human Genome Research Institute; or (2)
diseases that have been suggested as being rare. The purpose of the Rare
Diseases and Related Terms list is to distribute information; although the list
is updated regularly, it should not be used as a reference or guarantee that a
condition is rare. The prevalence of a rare disease is usually an estimate and
may change over time. A rare (or orphan) disease is generally considered to have
a prevalence of fewer than 200,000 affected individuals in the United States.
Certain diseases with 200,000 or more affected individuals may be included in
this list if certain subpopulations of people who have the disease are equal to
the prevalence standard for rare diseases. We welcome suggestions for additions
to or deletions from the list. Your recommendations may be sent via e-mail to
ord@od.nih.gov
Browse by Condition
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I cell disease
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IBIDS syndrome
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ICF syndrome
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Ichthyosiform erythroderma, corneal involvement, deafness
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Ichthyosiform erythroderma, nonbullous congenital
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Ichthyosis alopecia eclabion ectropion mental retardation
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Ichthyosis and male hypogonadism
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Ichthyosis bullosa of Siemens
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Ichthyosis cheek eyebrow syndrome
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Ichthyosis congenita biliary atresia
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Ichthyosis deafness mental retardation skeletal anomaly
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Ichthyosis follicularis atrichia photophobia syndrome
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Ichthyosis hepatosplenomegaly cerebellar degeneration
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Ichthyosis hystrix gravior
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Ichthyosis hystrix, Curth Macklin type
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Ichthyosis linearis circumflexa
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Ichthyosis male hypogonadism
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Ichthyosis mental retardation Devriendt type
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Ichthyosis mental retardation dwarfism renal impairment
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Ichthyosis microphthalmos
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Ichthyosis prematurity syndrome
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Ichthyosis tapered fingers midline groove up
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Ichthyosis vulgaris
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Ichthyosis with hypotrichosis, autosomal recessive
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Ichthyosis, erythrokeratolysis hemalis
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Ichthyosis, keratosis follicularis spinulosa decalvans
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Ichthyosis, mental retardation, dwarfism, and renal impairment
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Idiopathic acute eosinophilic pneumonia
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Idiopathic adolescent scoliosis
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Idiopathic adult neutropenia
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Idiopathic alveolar hypoventilation syndrome
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Idiopathic atypical mycobacterial infection
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Idiopathic basal ganglia calcification 1
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Idiopathic basal ganglia calcification, childhood onset
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Idiopathic diffuse interstitial fibrosis
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Idiopathic dilatation of the pulmonary artery
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Idiopathic dilated cardiomyopathy
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Idiopathic double athetosis
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Idiopathic eosinophilic chronic pneumopathy
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Idiopathic facial palsy
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Idiopathic hypereosinophilic syndrome
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Idiopathic minimal change nephrotic syndrome
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Idiopathic myopathy
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Idiopathic pulmonary fibrosis
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Idiopathic pulmonary hemosiderosis
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Idiopathic pulmonary hypertension
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Idiopathic sclerosing mesenteritis
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Idiopathic subglottic tracheal stenosis
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Iida Kannari syndrome
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Illum syndrome
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Ilyina Amoashy Grygory syndrome
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Imaizumi Kuroki syndrome
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Iminoglycinuria
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Immotile cilia syndrome, due to defective radial spokes
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Immotile cilia syndrome, due to excessively long cilia
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Immune defect due to absence of thymus
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Immune deficiency, familial variable
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Immune thrombocytopenia
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Immunodeficiency with short limb dwarfism
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Immunodeficiency without anhidrotic ectodermal dysplasia
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Immunodeficiency, microcephaly with normal intelligence
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Immunoglobulin A deficiency 1
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Immunoglobulin A deficiency 2
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Impairment of oral perception
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Imperforate anus
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Imperforate oropharynx costo vetebral anomalies
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Impossible syndrome
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Inborn amino acid metabolism disorder
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Inborn branched chain aminoaciduria
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Inborn renal aminoaciduria
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Inborn urea cycle disorder
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Incisors fused
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Inclusion body myopathy, 2 autosomal recessive
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Inclusion body myopathy, autosomal dominant
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Inclusion conjunctivitis
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Incontinentia pigmenti
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Indolent B cell lymphoma
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Indomethacin antenatal infection
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Infant epilepsy with migrant focal crisis
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Infantile apnea
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Infantile axonal neuropathy
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Infantile convulsions and paroxysmal choreoathetosis, familial
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Infantile digital fibromatosis
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Infantile dysphagia
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Infantile multisystem inflammatory disease
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Infantile myofibromatosis
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Infantile onset spinocerebellar ataxia
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Infantile Parkinsonism-dystonia and elevated dopamine metabolites in CSF
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Infantile polymyoclonus
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Infantile recurrent chronic multifocal osteomyolitis
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Infantile sialic acid storage disorder
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Infantile spasms
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Infantile spasms broad thumbs
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Infantile striato thalamic degeneration
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Infection with Mycobacterium marinum
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Infectious arthritis
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Infectious myocarditis
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Infective endocarditis
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Infective myositis
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Inflammatory breast cancer
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Infundibulopelvic dysgenesis
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Iniencephaly
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Insensitivity to pain, congenital, with anhidrosis
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Insulinoma
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Insulin-resistance type B
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Insulin-resistant acanthosis nigricans, type A
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Intercellular cholesterol esterification disease
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Interferon gamma, receptor 1, deficiency
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Internal carotid agenesis
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Interstitial cystitis
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Intervertebral disc disease
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Intestinal atresia multiple
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Intestinal malrotation facial anomalies familial type
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Intestinal pseudo-obstruction
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Intestinal pseudoobstruction chronic idiopathic
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Intracranial aneurysms multiple congenital anomaly
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Intracranial arachnoid cysts
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Intracranial arteriovenous malformation
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Intrahepatic cholangiocarcinoma
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Intraocular melanoma
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Intrathoracic kidney vertebral fusion
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Intrauterine growth retardation mandibular malar hypoplasia
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Intrauterine infections
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Intrinsic factor, congenital deficiency of
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Iodine antenatal infection
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IRAK4 deficiency
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Iridocyclitis
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Iridogoniodysgenesis and skeletal anomalies
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Iridogoniodysgenesis type1
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Iridogoniodysgenesis, dominant type
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Iris dysplasia hypertelorism deafness
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Iris hypoplasia and glaucoma
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Irons Bhan syndrome
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Isaacs syndrome
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Ischiadic hypoplasia renal dysfunction immunodeficiency
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Ischiopatellar dysplasia
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Isobutyryl-CoA dehydrogenase deficiency
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Isosporosiasis
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Isotretinoin embryopathy like syndrome
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Isthmian coarctation
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Ivemark syndrome
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IVIC syndrome
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