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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 10 64,565,121 64,657,079 RGD:8554872
G Bhlha9 basic helix-loop-helix family, member a9 JBrowse link 10 63,498,267 63,500,353 RGD:8554872
G Crk CRK proto-oncogene, adaptor protein JBrowse link 10 63,829,731 63,855,999 RGD:8554872
G Trarg1 trafficking regulator of GLUT4 (SLC2A4) 1 JBrowse link 10 63,471,330 63,491,713 RGD:8554872
G Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon JBrowse link 10 63,884,338 63,921,709 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15502
    syndrome 5379
      chromosomal duplication syndrome 110
        chromosome 17p13.3 duplication syndrome 5
Path 2
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      nervous system disease 10270
        central nervous system disease 8409
          brain disease 7762
            disease of mental health 5617
              Neurodevelopmental Disorders 4162
                Developmental Disabilities 379
                  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.