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
The Genetic and Rare Diseases Information Center has posted questions from the
public for the terms in bold. Click on the term to view the list of
questions in the "Questions & Answers" section.
Browse by Condition
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Uhl anomaly
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Ulcerative proctitis
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Ulerythema ophryogenesis
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Ulna and fibula absence of with severe limb deficiency
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Ulna and fibula, hypoplasia of
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Ulna hypoplasia with mental retardation
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Ulna metaphyseal dysplasia syndrome
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Ulnar hypoplasia lobster claw deformity of feet
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Ulnar-mammary syndrome
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Umbilical cord ulceration and intestinal atresia
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Uncombable hair syndrome
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Uniparental disomy of 6
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Uniparental disomy of 13
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Uniparental disomy of chromosome 11
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Uniparental disomy of chromosome 2
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Uniparental disomy, paternal, chromosome 14
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Unna-Thost palmoplantar keratoderma
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Unverricht-Lundborg disease
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Upington disease
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Upton Young syndrome
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Urachal adenocarcinoma
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Urachal cancer
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Urachal cyst
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Urea cycle disorders
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Urethral cancer
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Urethral obstruction sequence
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Urocanase deficiency
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Urogenital adysplasia
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Urogenital adysplasia, hereditary
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Uropathy distal obstructive polydactyly
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Usher syndrome
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Usher syndrome type 2A
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Usher syndrome type 3
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Usher syndrome, type 1
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Usher syndrome, type 1B
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Usher syndrome, type 1C
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Usher syndrome, type 1D
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Usher syndrome, type 1E
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Usher syndrome, type 1F
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Usher syndrome, type 2B
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Usher syndrome, type 2C
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Usual interstitial pneumonia
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Uterine sarcoma
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UV sensitive syndrome
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Uveal diseases