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| Term | ring chromosome 14 syndrome | ID (Ontology) | DOID:0070621 (Human Disease) |
| 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. | ||
| Also Known As | "r(14) syndrome" ; "r14 syndrome" ; "ring 14 syndrome" | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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chromosomal disease |__ring chromosome syndrome |__ring chromosome 14 syndrome |
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| Is a | ring chromosome syndrome | ||
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GARD:6072 MESH:C535487 MIM:616606 ORDO:1440 UMLS_CUI:C2930916 |
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