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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:SATB2-associated syndrome
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Accession:DOID:0060428 term browser browse the term
Definition:A syndrome that has_material_basis_in genetic changes that affect the SATB2 gene and that is characterized by mild to severe intellectual disability, a delayed or absent ability to speak, severe speech anomalies, abnormalities of the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2. (DO)
Synonyms:exact_synonym: 2q32-q33 microdeletion syndrome;   2q32q33 microdeletion syndrome;   Glass;   Glass Syndrome;   chromosome 2q32-q33 deletion syndrome;   monosomy 2q32;   monosomy 2q32-q33;   monosomy 2q32q33
 broad_synonym: SATB2-related disorder
 primary_id: MESH:C567350
 alt_id: OMIM:612313
 xref: ORDO:251019
For additional species annotation, visit the Alliance of Genome Resources.


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SATB2-associated syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Satb2 SATB homeobox 2 ISO ClinVar Annotator: match by OMIM:612313
ClinVar Annotator: match by term: Chromosome 2q32-q33 deletion syndrome
ClinVar Annotator: match by term: Glass syndrome
OMIM
ClinVar
PMID:2918541, PMID:10417281, PMID:12915443, PMID:16751105, PMID:16960803, PMID:17377962, PMID:19576302, PMID:19668335, PMID:23788249, PMID:23849776, PMID:23925499, PMID:24301056, PMID:24363063, PMID:24896178, PMID:25106414, PMID:25118029, PMID:25251319, PMID:25326635, PMID:25326637, PMID:25356970, PMID:25533962, PMID:25741868, PMID:25885067, PMID:26596517, PMID:27409069, PMID:27668656, PMID:28139846, PMID:28151491, PMID:28170089, PMID:28211976, PMID:28492532, PMID:28708303, PMID:29023086, PMID:32581362 NCBI chr 9:63,456,877...63,642,193
Ensembl chr 9:63,456,783...63,641,400
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      chromosomal deletion syndrome 868
        SATB2-associated syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    SATB2-associated syndrome 1
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.