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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;   RDO:0009989
 xref: ORDO:261183
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chromosome 15q11.2 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Auts2 activator of transcription and developmental regulator AUTS2 JBrowse link 12 27,155,362 28,252,752 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14924
    syndrome 4713
      chromosomal deletion syndrome 380
        chromosome 15q11.2 deletion syndrome 1
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      nervous system disease 9141
        central nervous system disease 6931
          brain disease 6435
            disease of mental health 4324
              developmental disorder of mental health 2591
                specific developmental disorder 1759
                  intellectual disability 1589
                    chromosome 15q11.2 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.