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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 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
 broad_synonym: KAT6B-RELATED SPECTRUM DISORDER;   KAT6B-RELATED SPECTRUM DISORDERS
 primary_id: MESH:C536717
 alt_id: OMIM:603736;   RDO:0002379
 xref: ORDO:3047
For additional species annotation, visit the Alliance of Genome Resources.


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blepharophimosis-intellectual disability syndrome, SBBYS type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dusp29 dual specificity phosphatase 29 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 16022
    Developmental Diseases 9336
      congenital heart disease 1040
        blepharophimosis-intellectual disability syndrome, SBBYS type 2
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        central nervous system disease 8860
          brain disease 8147
            disease of mental health 5775
              developmental disorder of mental health 2917
                specific developmental disorder 2099
                  intellectual disability 1940
                    Ohdo syndrome 3
                      blepharophimosis-intellectual disability syndrome, SBBYS type 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.