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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 10q23 deletion syndrome
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Accession:DOID:0060389 term browser browse the term
Definition:A chromosomal deletion syndrome that is characterized by dysmorphic facies, developmental delay and multiple congenital abnormalities and huvenile polyposis, has_material_basis_in recurrent deletions of chromosome 10q22.3-q23.2. (DO)
Synonyms:primary_id: MESH:C567385
 alt_id: OMIM:612242



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Path 1
Term Annotations click to browse term
  disease 40760
    syndrome 17742
      chromosomal deletion syndrome 4477
        chromosome 10q23 deletion syndrome 0
Path 2
Term Annotations click to browse term
  disease 40760
    Pathological Conditions, Signs and Symptoms 20966
      Pathologic Processes 12891
        Chromosome Aberrations 6135
          Aneuploidy 4956
            Monosomy 4646
              Chromosome Deletion 4646
                chromosomal deletion syndrome 4477
                  chromosome 10q23 deletion syndrome 0
paths to the root