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DO Term : ring chromosome 20 syndrome [DOID:0070622] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A ring chromosome syndrome characterized by recognizable epileptic phenotype with typical EEG pattern, intellectual disability manifesting after seizure onset in otherwise normally developing children, and behavioral changes that has_material_basis_in chromosome 20 fusion into a ring or ring-like structure.
  • synonyms:
  • r20 syndrome,
  • UMLS_CUI:C0265482,
  • GARD:1334,
  • MESH:C580424,
  • NCI:C169001,
  • ring chromosome 20,
  • r(20) syndrome,
  • ring 20 syndrome,
  • ring 20,
  • ORDO:1444,
  • ring chromosome 20 epilepsy syndrome
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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