Angelman Syndrome

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"Angelman Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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)

Descriptor ID	D017204
MeSH Number(s)	C10.228.662.075 C16.131.077.095 C16.131.260.040 C16.320.180.040
Concept/Terms	Angelman Syndrome Angelman Syndrome Syndrome, Angelman Puppet Children Children, Puppet Happy Puppet Syndrome Syndrome, Happy Puppet

Below are MeSH descriptors whose meaning is more general than "Angelman Syndrome".

Diseases [C]
Nervous System Diseases [C10]
Central Nervous System Diseases [C10.228]
Movement Disorders [C10.228.662]
Angelman Syndrome [C10.228.662.075]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Congenital Abnormalities [C16.131]
Abnormalities, Multiple [C16.131.077]
Angelman Syndrome [C16.131.077.095]
Chromosome Disorders [C16.131.260]
Angelman Syndrome [C16.131.260.040]
Genetic Diseases, Inborn [C16.320]
Chromosome Disorders [C16.320.180]
Angelman Syndrome [C16.320.180.040]

Below are MeSH descriptors whose meaning is related to "Angelman Syndrome".

Below are MeSH descriptors whose meaning is more specific than "Angelman Syndrome".

publications

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This graph shows the total number of publications written about "Angelman Syndrome" by people in UAMS Profiles by year, and whether "Angelman Syndrome" was a major or minor topic of these publications.

Bar chart showing 1 publications over 1 distinct years, with a maximum of 1 publications in 2020

To see the data from this visualization as text, click here.

People

Samanta, Debopam

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