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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 12 46,709,840 46,895,819 RGD:9068941
G BHLHA9 basic helix-loop-helix family member a9 JBrowse link 12 46,641,389 46,643,923 RGD:9068941
G CRK CRK proto-oncogene, adaptor protein JBrowse link 12 47,656,805 47,685,641 RGD:9068941
G TRARG1 trafficking regulator of GLUT4 (SLC2A4) 1 JBrowse link 12 46,623,712 46,634,115 RGD:9068941
G YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon JBrowse link 12 47,601,133 47,645,327 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12161
    syndrome 5247
      chromosomal duplication syndrome 107
        chromosome 17p13.3 duplication syndrome 5
Path 2
Term Annotations click to browse term
  disease 12161
    disease of anatomical entity 11823
      nervous system disease 9532
        central nervous system disease 7963
          brain disease 7357
            disease of mental health 5335
              Neurodevelopmental Disorders 4118
                Developmental Disabilities 404
                  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.