| Metadata | |
|---|---|
| ID | DOID:0070622 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070622 Copy |
| Name | ring chromosome 20 syndrome |
| 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. https://medlineplus.gov/genetics/condition/ring-chromosome-20-syndrome/, https://pubmed.ncbi.nlm.nih.gov/33363513/ |
| Xrefs |
SNOMEDCT_US_2025_09_01:23686004 |
| SKOS |
exactMatch GARD:1334 exactMatch MESH:C580424 exactMatch NCI:C169001 exactMatch ORDO:1444 exactMatch UMLS_CUI:C0265482 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
r(20) syndrome [EXACT] r20 syndrome [EXACT] ring 20 [RELATED] ring 20 syndrome [EXACT] ring chromosome 20 epilepsy syndrome [EXACT] ring chromosome 20 [RELATED] |
| Parent Relationships |