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ONTOLOGY REPORT - ANNOTATIONS


Term:Barber-Say syndrome
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Accession:DOID:0060549 term browser browse the term
Definition:A syndrome characterized by d by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It is that has material basis in heterozygous mutation in the TWIST2 gene on chromosome 2q37. (DO)
Synonyms:exact_synonym: BBRSAY;   BSS;   Hypertrichosis, atrophic skin, ectropion, and macrostomia
 primary_id: MESH:C537908
 alt_id: OMIM:209885;   RDO:0003823
 xref: GARD:819
For additional species annotation, visit the Alliance of Genome Resources.


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Barber-Say syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Twist2 twist family bHLH transcription factor 2 JBrowse link 9 98,924,134 98,968,510 RGD:8554872
RGD:7240710

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Term Annotations click to browse term
  disease 14383
    syndrome 4654
      Barber-Say syndrome 1
Path 2
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  disease 14383
    disease of anatomical entity 13567
      musculoskeletal system disease 3842
        connective tissue disease 2448
          bone disease 1993
            bone development disease 768
              dysostosis 259
                synostosis 177
                  craniosynostosis 141
                    Crouzon syndrome 57
                      Hypertelorism 36
                        Barber-Say syndrome 1
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