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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Kabuki syndrome
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Kaler Garrity Stern syndrome
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Kallikrein hypertension
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Kallmann syndrome 2
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Kallmann syndrome, type 1, X-linked
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Kallmann syndrome, type 3, recessive
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Kantaputra Gorlin syndrome
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Kanzaki disease
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Kaolin pneumoconiosis
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Kaplan Plauchu Fitch syndrome
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Kaplowitz Bodurtha syndrome
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Kaposiform Hemangioendothelioma
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Kapur Toriello syndrome
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Karandikar Maria Kamble syndrome
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Kartagener syndrome
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Kashani Strom Utley syndrome
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Kasznica Carlson Coppedge syndrome
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Katsantoni Papadakou Lagoyanni syndrome
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Kaufman oculocerebrofacial syndrome
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Kawasaki syndrome
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KBG syndrome
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Kearns Sayre syndrome
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Kennedy disease
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Kennerknecht Sorgo Oberhoffer syndrome
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Kennerknecht Vogel syndrome
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Kenny Caffey syndrome
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Kenny-Caffey syndrome, Type 1
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Keratitis, hereditary
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Keratoacanthoma
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Keratoacanthoma familial
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Keratoconjunctivitis sicca
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Keratoconus
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Keratoconus posticus circumscriptus
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Keratoderma palmoplantar deafness
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Keratoderma palmoplantar spastic paralysis
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Keratoderma palmoplantaris transgrediens
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Keratolytic winter erythema
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Keratomalacia
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Keratosis focal palmoplantar gingival
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Keratosis follicularis dwarfism cerebral atrophy
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Keratosis follicularis spinulosa decalvans
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Keratosis palmoplantar periodontopathy
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Keratosis palmoplantaris adenocarcinoma of the colon
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Keratosis palmoplantaris papulosa
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Keratosis palmoplantaris striata 1
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Keratosis palmoplantaris striata 3
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Keratosis palmoplantaris with esophageal cancer
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Keratosis, seborrheic
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Kerion celsi
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Kernicterus
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Keshan disease
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Keutel syndrome
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KID syndrome
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Kidney cancer
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Kidney cancer, childhood
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Kienbock's disease
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Kifafa seizure disorder
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Kikuchi disease
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Kimura disease
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King Denborough syndrome
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Klatskin tumor
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Klebsiella
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Kleeblattschaedel syndrome
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Kleine Levin Syndrome
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Kleiner Holmes syndrome
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Klinefelter syndrome
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Klinefelter syndrome, variants
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Klippel Feil syndrome dominant type
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Klippel Feil syndrome recessive type
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Klippel Trenaunay syndrome
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Klumpke paralysis
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Kluver Bucy syndrome
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Kniest dysplasia
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Kniest like dysplasia lethal
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Knobloch syndrome
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Knuckle pads, leuconychia and sensorineural deafness
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Kocher-Debre-Semelaigne syndrome
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Kohler disease
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Kohlschutter Tonz syndrome
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Konigsmark Knox Hussels syndrome
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Koone Rizzo Elias syndrome
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Kosztolanyi syndrome
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Kotzot-Richter syndrome
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Kousseff Nichols syndrome
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Kowarski syndrome
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Kozlowski Brown Hardwick syndrome
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Kozlowski Celermajer Tink syndrome
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Kozlowski Ouvrier syndrome
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Kozlowski Rafinski Klicharska syndrome
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Kozlowski Tsuruta Taki syndrome
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Kozlowski Warren Fisher syndrome
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Kozlowski-Krajewska syndrome
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Krabbe disease, atypical, due to Saposin A deficiency
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Krabbe leukodystrophy
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Krasnow Qazi syndrome
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Krauss Herman Holmes syndrome
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Krieble Bixler syndrome
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Krukenberg carcinoma
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Kurczynski Casperson syndrome
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Kuru
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Kuskokwim disease
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Kuster Majewski Hammerstein syndrome
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Kuster syndrome
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Kyasanur Forest disease
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Kyphomelic dysplasia
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Kyphosis brachyphalangy optic atrophy
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Kyrle disease
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