FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term chromosome 17p13.3 duplication syndrome ID (Ontology) DOID:0060432 (Human Disease)
Definition A chromosomal duplication syndrome that has_material_basis_in the PAFAH1B1 and/or the YWHAE gene on chromosome 17p13.3.
Also Known As "17p13.3 duplication syndrome" ; "17p13.3 microduplication syndrome" ; "chromosome 17p13.3 centromeric duplication syndrome" (for all, see Synonyms field below)
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  chromosomal disease
   |__chromosomal duplication syndrome
       |__chromosome 17p13.3 duplication syndrome
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Is a chromosomal duplication syndrome
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Synonyms
  • "17p13.3 duplication syndrome" EXACT
    "17p13.3 microduplication syndrome" EXACT
    "chromosome 17p13.3 centromeric duplication syndrome" EXACT
    "trisomy 17p13.3" EXACT
Secondary IDs
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ICD10CM:Q92.3
MESH:C567705
MIM:613215
ORDO:217385