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National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
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| Preferred Name | Angelman Syndrome [Disease/Finding] | |
| Synonyms |
Happy Puppet Syndrome Angelman Syndrome Puppet Children |
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| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000003551 |
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| altLabel |
Happy Puppet Syndrome Angelman Syndrome Puppet Children
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|
| cui |
C0162635
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| MESH DEFINITION |
A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)
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| MESH DUI |
D017204
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|
| MeSH name |
Angelman Syndrome
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|
| MESH UI |
M0026107
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|
| NDFRT kind |
DISEASE_KIND
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|
| notation |
N0000003551
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|
| NUI |
N0000003551
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|
| prefLabel |
Angelman Syndrome [Disease/Finding]
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|
| SNOMED CID |
76880004
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|
| tui |
T047
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| subClassOf |
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