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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 16p12.1 deletion syndrome
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Accession:DOID:0060399 term browser browse the term
Definition:A chromosomal deletion syndrome that has_material_basis_in a 520 kb deletion on the short (p) arm of the chromosome at a location designated 16p12.1 and is characterized by developmental delay, craniofacial dysmorphology, and congenital heart defects. (DO)
Synonyms:exact_synonym: chromosome 16p12.1 deletion syndrome, 520kb
 primary_id: OMIM:136570
 xref: NCI:C129875
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 17445
    syndrome 8267
      chromosomal deletion syndrome 1016
        chromosome 16p12.1 deletion syndrome 0
Path 2
Term Annotations click to browse term
  disease 17445
    Pathological Conditions, Signs and Symptoms 10388
      Pathologic Processes 6861
        Chromosome Aberrations 2053
          Aneuploidy 1332
            Monosomy 1060
              Chromosome Deletion 1060
                chromosomal deletion syndrome 1016
                  chromosome 16p12.1 deletion syndrome 0
paths to the root