FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Smith-Magenis syndrome ID (Ontology) DOID:0060768 (Human Disease)
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.
Also Known As "17p11.2 microdeletion syndrome" ; "chromosome 17p11.2 deletion syndrome"
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 Genes
 Smith-Magenis syndrome       1
 for disease ribbon | Smith-Magenis syndrome       1
 model of | Smith-Magenis syndrome       1
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  chromosomal disease
   |__chromosomal deletion syndrome
       |__Smith-Magenis syndrome  1 rec.
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Is a chromosomal deletion syndrome
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Synonyms
  • "17p11.2 microdeletion syndrome" EXACT
    "chromosome 17p11.2 deletion syndrome" EXACT
Secondary IDs
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GARD:8197
ICD10CM:Q93.5
MESH:D058496
MIM:182290
ORDO:819