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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 16p11.2 deletion syndrome
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Accession:DOID:0060398 term browser browse the term
Definition:A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has_material_basis_in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb region on chromosome 16p11.2 encompassing approximately 9 genes, including the SH2B1 gene. (DO)
Synonyms:exact_synonym: chromosome 16p11.2 deletion syndrome, 220kb;   distal 16p11.2 microdeletion syndrome
 primary_id: OMIM:613444
 xref: NCI:C120408;   ORDO:261222
For additional species annotation, visit the Alliance of Genome Resources.



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    syndrome 8262
      chromosomal deletion syndrome 1016
        chromosome 16p11.2 deletion syndrome 0
Path 2
Term Annotations click to browse term
  disease 17435
    Pathological Conditions, Signs and Symptoms 10360
      Pathologic Processes 6851
        Chromosome Aberrations 2051
          Aneuploidy 1329
            Monosomy 1058
              Chromosome Deletion 1058
                chromosomal deletion syndrome 1016
                  chromosome 16p11.2 deletion syndrome 0
paths to the root