| Metadata | |
|---|---|
| ID | DOID:0070621 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070621 Copy |
| Name | ring chromosome 14 syndrome |
| Definition | A ring chromosome syndrome characterized by early-onset epilepsy, developmental delay with mental retardation and poor speech, microcephaly, and dysmorphic facial features that has_material_basis_in chromosome 14 fusion into a ring or ring-like structure. https://medlineplus.gov/genetics/condition/ring-chromosome-14-syndrome/, https://pmc.ncbi.nlm.nih.gov/articles/PMC5387247/, https://pubmed.ncbi.nlm.nih.gov/23610869/, https://pubmed.ncbi.nlm.nih.gov/24116895/ |
| Xrefs |
SNOMEDCT_US_2025_09_01:702345009 |
| SKOS |
exactMatch GARD:6072 exactMatch MESH:C535487 exactMatch MIM:616606 exactMatch ORDO:1440 exactMatch UMLS_CUI:C2930916 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
r(14) syndrome [EXACT] r14 syndrome [EXACT] ring 14 [RELATED] ring 14 syndrome [EXACT] ring chromosome 14 [RELATED] |
| Parent Relationships |