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ONTOLOGY REPORT - ANNOTATIONS


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
 broad_synonym: KAT6B-RELATED SPECTRUM DISORDER;   KAT6B-RELATED SPECTRUM DISORDERS
 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
RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7782
      congenital heart disease 732
        blepharophimosis-intellectual disability syndrome, SBBYS type 2
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14096
      nervous system disease 9148
        central nervous system disease 6948
          brain disease 6452
            disease of mental health 4334
              developmental disorder of mental health 2608
                specific developmental disorder 1771
                  intellectual disability 1599
                    Ohdo syndrome 3
                      blepharophimosis-intellectual disability syndrome, SBBYS type 2
paths to the root

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