About   Help   FAQ
Disease Ontology Browser
Smith-Magenis syndrome (DOID:0060768)
Alliance: disease page
Synonyms: 17p11.2 microdeletion syndrome; chromosome 17p11.2 deletion syndrome
Alt IDs: OMIM:182290, ICD10CM:Q93.5, MESH:D058496, ORDO:819
Definition: 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 References using Mouse Models (7)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
10/29/2024
MGI 6.24 		The Jackson Laboratory