FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term chromosome 16p11.2 deletion syndrome, 593-kb ID (Ontology) DOID:0070515 (Human Disease)
Definition A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb).
Also Known As "Proximal 16p11.2 microdeletion syndrome"
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Human Disease Models (FBhh)  DOID       1
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Relevant FlyBase reports
 Alleles Genes Human Disease Models
 chromosome 16p11.2 deletion syndrome, 593-kb      24     22      1
 ameliorates | chromosome 16p11.2 deletion syndrome, 593-kb       6       --       --
 exacerbates | chromosome 16p11.2 deletion syndrome, 593-kb       1       --       --
 model of | chromosome 16p11.2 deletion syndrome, 593-kb      18       --       --
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  chromosomal disease
   |__chromosomal deletion syndrome
       |__chromosome 16p11.2 deletion syndrome, 593-kb  47 rec.
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Is a chromosomal deletion syndrome
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Synonyms
  • "Proximal 16p11.2 microdeletion syndrome" EXACT
Secondary IDs
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GARD:10740
MIM:611913
ORDO:261197
UMLS_CUI:C3150154
UMLS_CUI:C4273657