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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: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 - INTELLECTUAL DISABILITY SYNDROME;   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;   blepharophimosis and mental retardation syndrome, Say-Barber-Biesecker-Young-Simpson type
 broad_synonym: KAT6B-RELATED SPECTRUM DISORDER;   KAT6B-RELATED SPECTRUM DISORDERS
 primary_id: MESH:C536717
 alt_id: OMIM:603736
 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dusp29 dual specificity phosphatase 29 ISO ClinVar Annotator: match by term: Young Simpson syndrome ClinVar PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:23436491 PMID:25326637 PMID:25741868 PMID:27696664 NCBI chr15:2,766,929...2,806,573
Ensembl chr15:2,766,710...2,806,536
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO DNA:mutations:cds:multiple (human)
ClinVar Annotator: match by term: Young Simpson syndrome
ClinVar Annotator: match by OMIM:603736
ClinVar Annotator: match by term: Blepharophimosis - intellectual disability syndrome, SBBYS type
ClinVar
OMIM
PMID:8055130 PMID:18798845 PMID:21344633 PMID:22077973 PMID:23436491 PMID:25326637 PMID:25424711 PMID:25741868 PMID:26334766 PMID:26938784 PMID:27696664 PMID:28758091 PMID:30353918, PMID:22077973 RGD:9588484 NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576
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 chr 1:244,615,811...244,783,736
Ensembl chr 1:244,615,821...244,782,706
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    physical disorder 2960
      congenital hypothyroidism 47
        blepharophimosis-intellectual disability syndrome, SBBYS type 3
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      nervous system disease 11877
        central nervous system disease 10208
          brain disease 9580
            disease of mental health 6937
              developmental disorder of mental health 4277
                specific developmental disorder 3535
                  intellectual disability 3388
                    Ohdo syndrome 4
                      blepharophimosis-intellectual disability syndrome, SBBYS type 3
paths to the root