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ONTOLOGY REPORT - ANNOTATIONS


Term:chromosome 15q11.2 deletion syndrome
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Accession:DOID:0060393 term browser browse the term
Definition:A chromosomal deletion syndrome that is characterized by intellectual disbaility, dysmorphic facies, psychiatric illness and autism spectrum disorder, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15. (DO)
Synonyms:exact_synonym: 15q11.2 microdeletion;   15q11.2 microdeletion syndrome;   chromosome 15q11-q13 duplication syndrome;   duplication 15q11-q13 syndrome
 primary_id: MESH:C557830
 alt_id: OMIM:615656
 xref: ORDO:261183
For additional species annotation, visit the Alliance of Genome Resources.


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chromosome 15q11.2 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atp10a ATPase phospholipid transporting 10A (putative) JBrowse link 1 115,973,343 116,141,892 RGD:8554872
G Auts2 activator of transcription and developmental regulator AUTS2 JBrowse link 12 27,155,362 28,252,752 RGD:8554872
G Gabra5 gamma-aminobutyric acid type A receptor subunit alpha 5 JBrowse link 1 112,833,941 112,947,482 RGD:8554872
G Gabrb3 gamma-aminobutyric acid type A receptor subunit beta 3 JBrowse link 1 113,034,251 113,265,364 RGD:8554872
G Gabrg3 gamma-aminobutyric acid type A receptor subunit gamma 3 JBrowse link 1 112,158,525 112,812,267 RGD:8554872
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 JBrowse link 1 114,453,033 114,653,787 RGD:8554872
G Magel2 MAGE family member L2 JBrowse link 1 123,015,404 123,019,945 RGD:8554872
G Mkrn3 makorin, ring finger protein, 3 JBrowse link 1 123,062,049 123,064,763 RGD:8554872
G Ndn necdin, MAGE family member JBrowse link 1 122,981,755 122,983,354 RGD:8554872
G Oca2 OCA2 melanosomal transmembrane protein JBrowse link 1 114,661,970 114,987,433 RGD:8554872
G Snrpn small nuclear ribonucleoprotein polypeptide N JBrowse link 1 195,074,328 195,096,460 RGD:8554872
G Snurf SNRPN upstream reading frame JBrowse link 1 195,074,328 195,096,694 RGD:8554872
G Ube3a ubiquitin protein ligase E3A JBrowse link 1 116,586,901 116,678,161 RGD:8554872

Term paths to the root
Path 1
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  disease 16022
    syndrome 6143
      chromosomal deletion syndrome 752
        chromosome 15q11.2 deletion syndrome 13
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
                    chromosome 15q11.2 deletion syndrome 13
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.