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Disease Ontology Browser
ring chromosome 14 syndrome (DOID:0070621)
Alliance: disease page
Synonyms: r14 syndrome; r(14) syndrome; ring 14; ring 14 syndrome; ring chromosome 14
Alt IDs: OMIM:616606, MESH:C535487, ORDO:1440, UMLS_CUI:C2930916
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.

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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12/17/2024
MGI 6.24 		The Jackson Laboratory