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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 16q22 deletion syndrome
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Accession:DOID:0060401 term browser browse the term
Definition:A chromosomal deletion syndrome that has_material_basis_in an interstitial 16q22 deletion that is characterized by a failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel, high forehead, diastasis of the cranial sutures, broad nasal bridge, hypertelorism, low-set abnormal ears, and short neck. (DO)
Synonyms:primary_id: MIM:614541


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Path 1
Term Annotations click to browse term
  disease 14566
    syndrome 5304
      chromosomal deletion syndrome 156
        chromosome 16q22 deletion syndrome 0
Path 2
Term Annotations click to browse term
  disease 14566
    Pathological Conditions, Signs and Symptoms 9149
      Pathologic Processes 5472
        Chromosome Aberrations 317
          Aneuploidy 233
            Monosomy 162
              Chromosome Deletion 162
                chromosomal deletion syndrome 156
                  chromosome 16q22 deletion syndrome 0
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