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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Ohdo syndrome, SBBYS variant
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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 and that has_material_basis_in heterozygous mutation in the KAT6B gene on chromosome 10q22. (DO)
Synonyms:exact_synonym: BLEPHAROPHIMOSIS - INTELLECTUAL DISABILITY SYNDROME;   Mental retardation unusual facies hypothyroidism;   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;   blepharophimosis and mental retardation syndrome, Say-Barber-Biesecker-Young-Simpson type;   blepharophimosis-intellectual deficit syndrome, Say-Barber-Biesecker-Young-Simpson type;   blepharophimosis-intellectual disability syndrome, SBBYS type
 broad_synonym: AUTOSOMAL DOMINANT KAT6B-RELATED DISORDERS;   KAT6B-RELATED SPECTRUM DISORDER;   KAT6B-RELATED SPECTRUM DISORDERS
 primary_id: MESH:C536717
 alt_id: OMIM:603736
 xref: ORDO:3047

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Ohdo syndrome, SBBYS variant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type | ClinVar Annotator: match by term: Say-Barber-Biesecker-Young-Simpson variant of Ohdo Syndrome OMIM
ClinVar		 PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:22265014 More... NCBI chrNW_004936521:4,309,699...4,497,755
Ensembl chrNW_004936521:4,309,694...4,496,904 		JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:32694869 NCBI chrNW_004936503:2,835,512...3,001,365
Ensembl chrNW_004936503:2,835,496...3,001,381 		JBrowse link
G Ube3b ubiquitin protein ligase E3B ISO ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome ClinVar PMID:25741868 NCBI chrNW_004936769:1,197,596...1,248,173
Ensembl chrNW_004936769:1,197,588...1,248,200 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9491
      Ohdo syndrome 4
        Ohdo syndrome, SBBYS variant 3
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        central nervous system disease 11056
          brain disease 10378
            disease of mental health 7458
              developmental disorder of mental health 5072
                specific developmental disorder 4193
                  intellectual disability 4008
                    Ohdo syndrome 4
                      Ohdo syndrome, SBBYS variant 3
paths to the root