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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 17 1,003,519 1,229,722 RGD:8554872
G BHLHA9 basic helix-loop-helix family member a9 JBrowse link 17 1,270,444 1,271,815 RGD:8554872
G CRK CRK proto-oncogene, adaptor protein JBrowse link 17 1,420,693 1,456,232 RGD:8554872
G TRARG1 trafficking regulator of GLUT4 (SLC2A4) 1 JBrowse link 17 1,279,662 1,300,978 RGD:8554872
G YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon JBrowse link 17 1,344,275 1,400,262 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16650
    syndrome 6303
      chromosomal duplication syndrome 118
        chromosome 17p13.3 duplication syndrome 5
Path 2
Term Annotations click to browse term
  disease 16650
    disease of anatomical entity 15631
      nervous system disease 11913
        central nervous system disease 10071
          brain disease 9356
            disease of mental health 7049
              Neurodevelopmental Disorders 5401
                Developmental Disabilities 517
                  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.