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DO Term : ring chromosome 14 syndrome [DOID:0070621] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • ring 14,
  • ring 14 syndrome,
  • OMIM:616606,
  • ORDO:1440,
  • MESH:C535487,
  • r(14) syndrome,
  • ring chromosome 14,
  • r14 syndrome,
  • UMLS_CUI:C2930916,
  • 616606,
  • GARD:6072
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents