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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
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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

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  disease 14314
    syndrome 4612
      Barber-Say syndrome 1
Path 2
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  disease 14314
    disease of anatomical entity 13524
      musculoskeletal system disease 3738
        connective tissue disease 2416
          bone disease 1963
            bone development disease 748
              dysostosis 255
                synostosis 175
                  craniosynostosis 140
                    Crouzon syndrome 56
                      Hypertelorism 35
                        Barber-Say syndrome 1
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