Term:blepharophimosis-intellectual disability syndrome, SBBYS type
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Accession:DOID:0060290 term browser browse the term
Definition:A group of syndromes including Ohdo syndrome and Say Barber Biesecker Youn-Simpson 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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  disease 14920
    Developmental Diseases 7769
      congenital heart disease 731
        blepharophimosis-intellectual disability syndrome, SBBYS type 2
Path 2
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  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        central nervous system disease 6948
          brain disease 6454
            disease of mental health 4346
              developmental disorder of mental health 2600
                specific developmental disorder 1765
                  intellectual disability 1594
                    Ohdo syndrome 3
                      blepharophimosis-intellectual disability syndrome, SBBYS type 2
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