FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term partial trisomy distal 4q ID (Ontology) DOID:0111159 (Human Disease)
Definition A chromosomal duplication syndrome characterized by growth deficiency, abnormal muscle tone, intellectual disability, and distinctive craniofacial malformations that has_material_basis_in duplication of the distal portion of chromosome 4q.
Also Known As "Chromosome 4, Partial Trisomy 4q" ; "Distal 4q Trisomy" ; "Dup(4q) Syndrome, Partial" (for all, see Synonyms field below)
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  chromosomal disease
   |__chromosomal duplication syndrome
       |__partial trisomy distal 4q
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Is a chromosomal duplication syndrome
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Synonyms
  • "Chromosome 4, Partial Trisomy 4q" EXACT
    "Distal 4q Trisomy" EXACT
    "Dup(4q) Syndrome, Partial" EXACT
    "Duplication 4q Syndrome, Partial" EXACT
    "Partial Trisomy 4q Syndrome" EXACT
Secondary IDs
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