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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
For additional species annotation, visit the Alliance of Genome Resources.


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chromosome 17p13.3 duplication syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bhlha9 basic helix-loop-helix family member a9 JBrowse link NW_004936538 6,558,044 6,559,193 RGD:9068941
G Crk CRK proto-oncogene, adaptor protein JBrowse link NW_004936538 7,581,453 7,609,543 RGD:9068941
G LOC101976167 active breakpoint cluster region-related protein JBrowse link NW_004936538 6,674,595 6,819,511 RGD:9068941
G Trarg1 trafficking regulator of GLUT4 (SLC2A4) 1 JBrowse link NW_004936538 6,534,704 6,551,335 RGD:9068941
G Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon JBrowse link NW_004936538 7,518,283 7,558,458 RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11547
    syndrome 5028
      chromosomal duplication syndrome 98
        chromosome 17p13.3 duplication syndrome 5
Path 2
Term Annotations click to browse term
  disease 11547
    disease of anatomical entity 11222
      nervous system disease 9080
        central nervous system disease 7576
          brain disease 6994
            disease of mental health 5031
              Neurodevelopmental Disorders 3904
                Developmental Disabilities 391
                  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.