Smith-Magenis Syndrome

"Smith-Magenis 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

Complex neurobehavioral disorder characterized by distinctive facial features (FACIES), developmental delay and INTELLECTUAL DISABILITY. Behavioral phenotypes include sleep disturbance, maladaptive, self-injurious and attention-seeking behaviors. The sleep disturbance is linked to an abnormal circadian secretion pattern of MELATONIN. The syndrome is associated with de novo deletion or mutation and HAPLOINSUFFICIENCY of the retinoic acid-induced 1 protein on chromosome 17p11.2.

Descriptor ID	D058496
MeSH Number(s)	C10.281.900 C16.131.077.879 C16.131.260.887 C16.320.180.887
Concept/Terms	Smith-Magenis Syndrome Smith-Magenis Syndrome Smith Magenis Syndrome Syndrome, Smith-Magenis Chromosome 17p11.2 Deletion Syndrome 17p11.2 Monosomy 17p11.2 Monosomy

Below are MeSH descriptors whose meaning is more general than "Smith-Magenis Syndrome".

Diseases [C]
Nervous System Diseases [C10]
Chronobiology Disorders [C10.281]
Smith-Magenis Syndrome [C10.281.900]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Congenital Abnormalities [C16.131]
Abnormalities, Multiple [C16.131.077]
Smith-Magenis Syndrome [C16.131.077.879]
Chromosome Disorders [C16.131.260]
Smith-Magenis Syndrome [C16.131.260.887]
Genetic Diseases, Inborn [C16.320]
Chromosome Disorders [C16.320.180]
Smith-Magenis Syndrome [C16.320.180.887]

Below are MeSH descriptors whose meaning is related to "Smith-Magenis Syndrome".

Below are MeSH descriptors whose meaning is more specific than "Smith-Magenis Syndrome".

publications

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This graph shows the total number of publications written about "Smith-Magenis Syndrome" by people in this website by year, and whether "Smith-Magenis 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 2015

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

Year	Major Topic	Minor Topic	Total
2015	1	0	1

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Dubbs, Holly

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