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Disease Ontology Browser
ring chromosome 20 syndrome (DOID:0070622)
Alliance: disease page
Synonyms: r20 syndrome; r(20) syndrome; ring 20; ring 20 syndrome; ring chromosome 20; ring chromosome 20 epilepsy syndrome
Alt IDs: MESH:C580424, NCI:C169001, ORDO:1444, UMLS_CUI:C0265482
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory