Chromosome Disorders D025063

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

Subtype Terms (20)

22q11 Deletion Syndrome
5 approved drugs

Angelman Syndrome
12 drugs (5 approved, 7 experimental)

Beckwith-Wiedemann Syndrome
8 drugs (7 approved, 1 experimental)

Branchio-Oto-Renal Syndrome
 

Cri-du-Chat Syndrome
 

De Lange Syndrome
1 approved drug

Down Syndrome
60 drugs (48 approved, 12 experimental)

Holoprosencephaly
 

Jacobsen Distal 11q Deletion Syndrome
 

Prader-Willi Syndrome
26 drugs (14 approved, 12 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)



Organization Involved with Phase 3 Indications (1)

Hierarchy Tree View

UMLS Data


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