| Metadata | |
|---|---|
| ID | DOID:0070620 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070620 Copy |
| Name | ring chromosome syndrome |
| Definition | A chromosomal disease that has_material_basis_in chromosome fusion into a ring or ring-like structure. Ring chromosome syndrome phenotypes are inherently variable. https://en.wikipedia.org/wiki/Ring_chromosome, https://pmc.ncbi.nlm.nih.gov/articles/PMC9519620/, https://rarechromo.org/glossary/ |
| Xrefs |
SNOMEDCT_US_2025_09_01:23345003 |
| SKOS |
exactMatch ICD10CM:Q93.2 exactMatch ORDO:363203 broadMatch MESH:D012303 broadMatch UMLS_CUI:C0035639 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
RC [RELATED] ring chromosome [RELATED] ring syndrome [EXACT] |
| Parent Relationships |
is_a chromosomal disease |