Preferred Name | Smith-Magenis Syndrome | |
Synonyms |
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ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Smith_Magenis_Syndrome |
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DEFINITION |
A genetic syndrome caused by an interstitial deletion in chromosome 17p11.2. It is characterized by mild to moderate mental retardation, distinctive facial features (flat head, square face, and deep set-eyes), sleep disturbances, attention deficit disorders, and temper tantrums. |
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isDefinedBy |
A genetic syndrome caused by an interstitial deletion in chromosome 17p11.2. It is characterized by mild to moderate mental retardation, distinctive facial features (flat head, square face, and deep set-eyes), sleep disturbances, attention deficit disorders, and temper tantrums. |
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label |
Smith-Magenis Syndrome |
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prefixIRI |
Thesaurus:Smith_Magenis_Syndrome |
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prefLabel |
Smith-Magenis Syndrome |
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subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder |