loading...| Preferred Name | Smith-Magenis Syndrome | |
| Synonyms |
Chromosome 17p11.2 Deletion Syndrome Smith-Magenis Syndrome |
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| Definitions |
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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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75469 |
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| code |
C75469 |
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| Concept_In_Subset | ||
| Contributing_Source |
Cellosaurus |
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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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| FULL_SYN |
Chromosome 17p11.2 Deletion Syndrome Smith-Magenis Syndrome |
|
| label |
Smith-Magenis Syndrome |
|
| Legacy Concept Name |
Smith_Magenis_Syndrome |
|
| Preferred_Name |
Smith-Magenis Syndrome |
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| prefixIRI |
Thesaurus:C75469 |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0795864 |
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| subClassOf |