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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:ring chromosome 20 syndrome
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Accession:DOID:0070622 term browser browse the term
Definition: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. (DO)
Synonyms:exact_synonym: R(20) Syndrome;   Ring 20 Syndrome;   Ring Chromosome 20;   Ring Chromosome 20 Epilepsy Syndrome;   r20 syndrome
 related_synonym: ring 20
 alt_id: DOID:9002466
 xref: GARD:1334;   MESH:C535369;   MESH:C580424;   MONDO:0015436;   NCI:C169001;   ORDO:1444


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    syndrome 11372
      ring chromosome 20 syndrome 0
Path 2
Term Annotations click to browse term
  disease 19137
    Developmental Disease 14663
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13711
        genetic disease 13376
          chromosomal disease 3182
            ring chromosome syndrome 0
              ring chromosome 20 syndrome 0
paths to the root