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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;   ORDO:1231
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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  disease 14759
    syndrome 4210
      Barber-Say syndrome 1
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4231
          eye and adnexa disease 1971
            eye disease 1971
              eyelid disease 70
                Barber-Say syndrome 1
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