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RGD uses the Human Disease Ontology (DO, 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:Potocki-Shaffer syndrome
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Accession:DOID:0111687 term browser browse the term
Definition:A syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that has_material_basis_in heterozygosity for a contiguous gene deletion on chromosome 11p11.2. (DO)
Synonyms:exact_synonym: 11p11.2 deletion;   P11PDS;   PSS;   chromosome 11p11.2 deletion syndrome;   defect11 syndrome;   deletion of chromosome 11p11.2;   proximal 11P deletion syndrome
 primary_id: MESH:C538356
 alt_id: OMIM:601224
 xref: GARD:9762;   NCI:C75456;   ORDO:52022
For additional species annotation, visit the Alliance of Genome Resources.

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Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      chromosomal deletion syndrome 867
        Potocki-Shaffer syndrome 0
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      musculoskeletal system disease 5715
        connective tissue disease 4073
          bone disease 3528
            bone development disease 1329
              osteochondrodysplasia 435
                Osteochondroma 9
                  Osteochondromatosis 9
                    hereditary multiple exostoses 9
                      Potocki-Shaffer syndrome 0
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.