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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:7q11.23 duplication syndrome
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Accession:DOID:0080926 term browser browse the term
Definition:A chromosomal duplication syndrome that is characterized by motor, speech and language delay, behavior problems, intellectual disability, low muscle tone (hypotonia), an increased head circumference (macrocephaly), facial dysmorphism, seizures, brain abnormalities, and heart defects such as enlargement of the blood vessel that carries blood from the heart to the rest of the body (aortic dilatation) and that has_material_basis_in an extra copy of a region of the long arm of chromosome 7. (DO)
Synonyms:exact_synonym: 7q11.23 microduplication syndrome;   WBS duplication syndrome;   William-Beuren region duplication syndrome;   Williams-Beuren Region Duplication Syndrome;   chromosome 7q11.23 duplication syndrome
 narrow_synonym: Somerville-Van der Aa syndrome;   WBS triplication syndrome;   chromosome 7q11.23 triplication syndrome
 primary_id: MESH:C565723
 alt_id: DOID:9002292;   OMIM:609757
 xref: GARD:12076;   NCI:C165597;   ORDO:96121


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Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10888
      chromosomal duplication syndrome 1106
        7q11.23 duplication syndrome 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      cardiovascular system disease 5413
        vascular disease 4013
          artery disease 2825
            aortic disease 792
              aortic valve disease 379
                aortic valve stenosis 357
                  supravalvular aortic stenosis 33
                    Williams-Beuren syndrome 32
                      7q11.23 duplication syndrome 0
paths to the root