Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Chromosome Disorders
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Chromosome Disorders
Description
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429) MeSH
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Subtype Terms (20)
22q11 Deletion Syndrome
5 drugs (4 approved, 1 experimental)
Angelman Syndrome
12 drugs (5 approved, 7 experimental)
Beckwith-Wiedemann Syndrome
8 approved drugs
De Lange Syndrome
1 approved drug
Down Syndrome
60 drugs (48 approved, 12 experimental)
Jacobsen Distal 11q Deletion Syndrome
Prader-Willi Syndrome
25 drugs (12 approved, 13 experimental)
Rubinstein-Taybi Syndrome
1 approved drug
Sex Chromosome Disorders
1 approved drug
Silver-Russell Syndrome
1 approved drug
Smith-Magenis Syndrome
3 drugs (2 approved, 1 experimental)
Phase 2 Indicated Drugs (3)
Organization Involved with Phase 3 Indications (1)
Organization Involved with Phase 2 Indications (7)
Organization Involved with Other Experimental Indications (5)
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UMLS Data
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