FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Potocki-Lupski syndrome ID (Ontology) DOID:0060853 (Human Disease)
Definition A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in contiguous gene syndrome caused by duplication of chromosome 17p11.2.
Also Known As "17p11.2 microduplication syndrome" ; "chromosome 17p11.2 duplication syndrome" ; "trisomy 17p11.2"
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  chromosomal disease
   |__chromosomal duplication syndrome
       |__Potocki-Lupski syndrome
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Is a chromosomal duplication syndrome
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Synonyms
  • "17p11.2 microduplication syndrome" EXACT
    "chromosome 17p11.2 duplication syndrome" EXACT
    "trisomy 17p11.2" EXACT
Secondary IDs
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GARD:10145
MESH:C538355
MIM:610883
NCI:C124846
ORDO:1713
SNOMEDCT_US_2023_03_01:734016004
UMLS_CUI:C2931246