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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:chromosome 5p13 duplication syndrome
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Accession:DOID:0060460 term browser browse the term
Definition:A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 5p13 region. (DO)
Synonyms:exact_synonym: 5p13 microduplication syndrome;   trisomy 5p13
 primary_id: MESH:C567717
 alt_id: OMIM:613174
 xref: ORDO:329802


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    syndrome 10839
      chromosomal duplication syndrome 1106
        chromosome 5p13 duplication syndrome 0
Path 2
Term Annotations click to browse term
  disease 21126
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18307
        genetic disease 18251
          chromosomal disease 2730
            chromosomal duplication syndrome 1106
              chromosome 5p13 duplication syndrome 0
paths to the root