ONTOLOGY REPORT - ANNOTATIONS


Term:chromosome 2q32-q33 deletion syndrome
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Accession:DOID:0060428 term browser browse the term
Synonyms:exact_synonym: 2q32-q33 microdeletion syndrome;   2q32q33 microdeletion syndrome;   Glass;   Glass Syndrome;   SATB2-RELATED DISORDER;   monosomy 2q32;   monosomy 2q32-q33;   monosomy 2q32q33
 primary_id: MESH:C567350;   RDO:0015443
 alt_id: OMIM:612313
 xref: ORDO:251019
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chromosome 2q32-q33 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Satb2 SATB homeobox 2 JBrowse link 9 63,456,877 63,642,193 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    syndrome 4218
      chromosomal deletion syndrome 325
        chromosome 2q32-q33 deletion syndrome 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          brain disease 6412
            disease of mental health 4323
              developmental disorder of mental health 2594
                specific developmental disorder 1329
                  intellectual disability 1157
                    chromosome 2q32-q33 deletion syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.