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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11-beta-hydroxylase deficiency
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15q13.3 microdeletion syndrome
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16p11.2 deletion syndrome
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16q24.3 microdeletion syndrome
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17-alpha-hydroxylase deficiency
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17-beta hydroxysteroid dehydrogenase 3 deficiency
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17q21.31 microdeletion syndrome
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17q23.1q23.2 microdeletion syndrome
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18 Hydroxylase deficiency
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19p13.12 microdeletion syndrome
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1q21.1 microdeletion syndrome
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1q44 microdeletion syndrome
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2,4-Dienoyl-CoA reductase deficiency
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21-hydroxylase deficiency
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22q11.2 deletion syndrome
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22q11.2 duplication syndrome
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22q13.3 deletion syndrome
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2-hydroxyethyl methacrylate sensitization
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2-Hydroxyglutaric aciduria
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2-methyl-3-hydroxybutyric aciduria
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2-Methylacetoacetyl CoA thiolase deficiency
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2-methylbutyryl-CoA dehydrogenase deficiency
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2q37 deletion syndrome
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3 alpha methylcrotonyl-CoA carboxylase 2 deficiency
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3 Methylcrotonyl-CoA carboxylase 1 deficiency
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3 methylglutaconic aciduria type I
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3 methylglutaconic aciduria type IV
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3 methylglutaconic aciduria type V
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3-alpha hydroxyacyl-CoA dehydrogenase deficiency
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3-beta-hydroxysteroid dehydrogenase deficiency
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3-Hydroxyisobutyric aciduria
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3M syndrome
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3-methylcrotonyl-CoA carboxylase deficiency
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3-methylglutaconic aciduria type III
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3p deletion syndrome
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46, XY disorders of sexual development
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46,XX Gonadal dysgenesis epibulbar dermoid
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46,XX testicular disorder of sex development
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47 XXX syndrome
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47, XYY syndrome
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48,XXXY syndrome
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48,XXYY syndrome
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49,XXXXX syndrome
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49,XXXXY syndrome
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49,XXXYY syndrome
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4-hydroxyphenylacetic aciduria