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ONTOLOGY REPORT - ANNOTATIONS


Term:chromosome 17p13.3 duplication syndrome
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Accession:DOID:0060432 term browser browse the term
Synonyms:exact_synonym: 17p13.3 duplication syndrome;   17p13.3 microduplication syndrome;   chromosome 17p13.3 centromeric duplication syndrome;   trisomy 17p13.3
 primary_id: MESH:C567705
 alt_id: OMIM:613215;   RDO:0015701
 xref: ORDO:217385
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chromosome 17p13.3 duplication syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abr ABR activator of RhoGEF and GTPase JBrowse link NW_004955481 2,503,309 2,710,667 RGD:9068941
G Bhlha9 basic helix-loop-helix family member a9 JBrowse link NW_004955481 2,769,023 2,770,269 RGD:9068941
G Crk CRK proto-oncogene, adaptor protein JBrowse link NW_004955481 1,705,595 1,748,363 RGD:9068941
G Trarg1 trafficking regulator of GLUT4 (SLC2A4) 1 JBrowse link NW_004955481 2,775,426 2,789,929 RGD:9068941
G Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon JBrowse link NW_004955481 1,752,778 1,805,700 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11418
    syndrome 4987
      chromosomal duplication syndrome 96
        chromosome 17p13.3 duplication syndrome 5
Path 2
Term Annotations click to browse term
  disease 11418
    disease of anatomical entity 11091
      nervous system disease 8959
        central nervous system disease 7488
          brain disease 6905
            disease of mental health 4974
              Neurodevelopmental Disorders 3860
                Developmental Disabilities 395
                  chromosome 17p13.3 duplication syndrome 5
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.