World Of Taxonomy
C75469Level 6

Smith-Magenis Syndrome

**Semantic type:** Disease or Syndrome

**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.

**Synonyms:** - Chromosome 17p11.2 Deletion Syndrome

GET/api/v1/systems/nci_thesaurus/nodes/C75469
Official DownloadCC BY 4.0Source

Hierarchy Explorer

Loading...

Cross-system equivalences0

No cross-system equivalences mapped for this node.