loading...| Preferred Name |
Angelman Syndrome [Disease/Finding] |
|
| Synonyms |
Happy Puppet Syndrome |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000003551 |
|
| altLabel |
Happy Puppet Syndrome Angelman Syndrome Puppet Children |
|
| cui |
C0162635 |
|
| 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) |
|
| MESH DUI |
D017204 |
|
| MeSH name |
Angelman Syndrome |
|
| MESH UI |
M0026107 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000003551 |
|
| NUI |
N0000003551 |
|
| prefLabel |
Angelman Syndrome [Disease/Finding] |
|
| SNOMED CID |
76880004 |
|
| tui |
T047 |
|
| subClassOf |