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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X chromosome, duplication Xq13 1 q21 1
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X chromosome, monosomy Xp22 pter
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X chromosome, monosomy Xq28
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X chromosome, trisomy 26-28
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X chromosome, trisomy Xp3
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X chromosome, trisomy Xpter Xq13
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X chromosome, trisomy Xq
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X chromosome, trisomy Xq25
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X fragile site folic acid type
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Xanthic urolithiasis
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Xanthine oxydase deficiency
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Xanthinuria
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Xanthogranulomatous cholecystitis
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Xanthogranulomatous sialadenitis
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Xerocytosis, hereditary
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Xeroderma pigmentosum
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Xeroderma pigmentosum type 7
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Xeroderma pigmentosum, type 1
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Xeroderma pigmentosum, type 2
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Xeroderma pigmentosum, type 3
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Xeroderma pigmentosum, type 5
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Xeroderma pigmentosum, type 6
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Xeroderma pigmentosum, type 9
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Xeroderma pigmentosum, variant type
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Xeroderma talipes enamel defects
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XK aprosencephaly
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X-linked adrenal hypoplasia congenita
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X-linked adrenoleukodystrophy
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X-linked agammaglobulinemia
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X-linked alpha thalassemia mental retardation syndrome (ATR-X)
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X-linked ichthyosis
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X-linked lymphoproliferative syndrome
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X-linked mental retardation and macro-orchidism
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X-linked mental retardation associated with marXq2
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X-linked mental retardation Brooks type
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X-linked mental retardation craniofacial abnormal microcephaly club
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X-linked mental retardation De silva type
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X-linked mental retardation Gustavson type
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X-linked mental retardation Hamel type
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X-linked mental retardation type Martinez
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X-linked mental retardation type Raynaud
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X-linked mental retardation type Schutz
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X-linked mental retardation type Wittwer
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X-linked sideroblastic anemia
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XX male syndrome
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XY Female
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