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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

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Term Annotations click to browse term
  disease 16465
    syndrome 9489
      Beare-Stevenson cutis gyrata syndrome 1
Path 2
Term Annotations click to browse term
  disease 16465
    Pathological Conditions, Signs and Symptoms 11287
      Signs and Symptoms 9356
        Neurologic Manifestations 9046
          sensory system disease 6279
            skin disease 3576
              pigmentation disease 242
                Hyperpigmentation 46
                  Melanosis 37
                    acanthosis nigricans 8
                      Beare-Stevenson cutis gyrata syndrome 1
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