| Descriptor English: | Angelman Syndrome | ||||||
| Descriptor Spanish: |
Síndrome de Angelman
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| Descriptor Portuguese: | Síndrome de Angelman | ||||||
| Descriptor French: | Syndrome d'Angelman | ||||||
| Entry term(s): |
Children, Puppet Happy Puppet Syndrome Puppet Children Syndrome, Angelman Syndrome, Happy Puppet |
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| Tree number(s): |
C10.228.662.075 C16.131.077.095 C16.131.260.040 C16.320.180.040 C16.320.447.250 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D017204 | ||||||
| Scope note: | 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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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Previous Indexing: |
Ataxia (1972-1992) Mental Disorders (1967-1992) Movement Disorders (1967-1992) |
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| Public MeSH Note: | 93 |
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| History Note: | 93 |
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| Related: |
Intellectual Disability
MeSH | ||||||
| DeCS ID: | 30854 | ||||||
| Unique ID: | D017204 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1993/01/01 | ||||||
| Date of Entry: | 1992/05/07 | ||||||
| Revision Date: | 2013/07/08 |
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Angelman Syndrome
- Preferred
| Concept UI |
M0026107 |
| Scope note | 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) |
| Preferred term | Angelman Syndrome |
| Entry term(s) |
Children, Puppet Happy Puppet Syndrome Puppet Children Syndrome, Angelman Syndrome, Happy Puppet |
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