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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:Beare-Stevenson cutis gyrata syndrome
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Accession:DOID:0050660 term browser browse the term
Definition:A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26. (DO)
Synonyms:exact_synonym: BSTVS;   Beare-Stevenson syndrome;   cutis gyrata syndrome of Beare and Stevenson;   cutis gyrata syndrome of Beare-Stevenson
 primary_id: MESH:C565129
 alt_id: OMIM:123790
 xref: GARD:332;   NCI:C123813
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 17289
    syndrome 8166
      Beare-Stevenson cutis gyrata syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      musculoskeletal system disease 6466
        connective tissue disease 4447
          bone disease 3124
            bone development disease 1425
              dysostosis 394
                synostosis 242
                  craniosynostosis 187
                    Beare-Stevenson cutis gyrata syndrome 1
paths to the root