Smith-Magenis Syndrome
Disease ID: disease_node_12534
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| Dbxref | GARD:8197, ICD10CM:Q93.5, MESH:D058496, MIM:182290, ORDO:819 |
|---|---|
| Subclassof | DOID_0060388 |
| Data Source | DOID, MESH |
| Synonyms | 17p11.2 microdeletion syndrome, chromosome 17p11.2 deletion syndrome |
| Mesh Id | D058496 |
| Mesh Label | Smith-Magenis Syndrome |
| Mesh Subclassof | D000015, D025063, D021081 |
| Doid Label | Smith-Magenis syndrome |
| Doid Description | A chromosomal deletion syndrome that is characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material_basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region. |
| Disease Node Id | disease_node_12534 |
| Doid Id | DOID_0060768 |
| Label | Smith-Magenis Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Chromosomal Deletion Syndrome(ID:disease_node_15239) (Disease)