FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term ring chromosome 20 syndrome ID (Ontology) DOID:0070622 (Human Disease)
Definition A ring chromosome syndrome characterized by recognizable epileptic phenotype with typical EEG pattern, intellectual disability manifesting after seizure onset in otherwise normally developing children, and behavioral changes that has_material_basis_in chromosome 20 fusion into a ring or ring-like structure.
Also Known As "r(20) syndrome" ; "r20 syndrome" ; "ring 20 syndrome" (for all, see Synonyms field below)
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Spanning Tree (Parents/Children)
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  chromosomal disease
   |__ring chromosome syndrome
       |__ring chromosome 20 syndrome
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Synonyms
  • "r(20) syndrome" EXACT
    "r20 syndrome" EXACT
    "ring 20" RELATED
    "ring 20 syndrome" EXACT
    "ring chromosome 20" RELATED
    "ring chromosome 20 epilepsy syndrome" EXACT
Secondary IDs
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GARD:1334
MESH:C580424
NCI:C169001
ORDO:1444
UMLS_CUI:C0265482