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Term:blepharophimosis-intellectual disability syndrome, SBBYS type
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Accession:DOID:0060290 term browser browse the term
Definition:A Ohdo syndrome that is characterized by blepharophimosis, ptosis and intellectual disability. (DO)
Synonyms:exact_synonym: Blepharophimosis and Mental Retardation Syndrome, Say-Barber-Biesecker-Young-Simpson Type;   Blepharophimosis-Intellectual Deficit Syndrome, Say-Barber-Biesecker-Young-Simpson Type;   Mental retardation unusual facies hypothyroidism;   Ohdo Syndrome, SBBYS Variant;   Ohdo Syndrome, Say-Barber-Biesecker Variant;   Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant;   SBBYS Variant of Ohdo Syndrome;   SBBYSS;   Say-Barber-Biesecker-Young-Simpson Syndrome;   Say-Barber-Biesecker-Young-Simpson Variant of Ohdo Syndrome;   YSS;   Young Simpson syndrome
 primary_id: MESH:C536717
 alt_id: OMIM:603736;   RDO:0002379
 xref: ORDO:3047
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blepharophimosis-intellectual disability syndrome, SBBYS type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dupd1 dual specificity phosphatase and pro isomerase domain containing 1 JBrowse link 15 2,766,929 2,806,573 RGD:8554872
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:9588484

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Path 1
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      congenital heart disease 872
        blepharophimosis-intellectual disability syndrome, SBBYS type 2
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        central nervous system disease 8267
          brain disease 7613
            disease of mental health 5552
              developmental disorder of mental health 2729
                specific developmental disorder 1896
                  intellectual disability 1721
                    Ohdo syndrome 3
                      blepharophimosis-intellectual disability syndrome, SBBYS type 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.