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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:chromosome 17p13.3 duplication syndrome
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Accession:DOID:0060432 term browser browse the term
Definition:A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17p13.3 region. (DO)
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
 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abr ABR activator of RhoGEF and GTPase ISO ClinVar Annotator: match by term: Chromosome 17p13.3, centromeric, duplication syndrome ClinVar PMID:21681106 NCBI chr10:64,565,121...64,657,079
Ensembl chr10:64,567,268...64,657,089
JBrowse link
G Bhlha9 basic helix-loop-helix family, member a9 ISO ClinVar Annotator: match by term: Chromosome 17p13.3, centromeric, duplication syndrome ClinVar PMID:21681106 NCBI chr10:63,498,267...63,500,353
Ensembl chr10:63,498,698...63,499,390
JBrowse link
G Crk CRK proto-oncogene, adaptor protein ISO ClinVar Annotator: match by term: Chromosome 17p13.3, centromeric, duplication syndrome ClinVar PMID:21681106 NCBI chr10:63,829,731...63,855,999
Ensembl chr10:63,829,807...63,852,780
JBrowse link
G Trarg1 trafficking regulator of GLUT4 (SLC2A4) 1 ISO ClinVar Annotator: match by term: Chromosome 17p13.3, centromeric, duplication syndrome ClinVar PMID:21681106 NCBI chr10:63,471,330...63,491,713
Ensembl chr10:63,471,331...63,491,713
JBrowse link
G Ywhae tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon ISO ClinVar Annotator: match by term: Chromosome 17p13.3, centromeric, duplication syndrome ClinVar PMID:21681106 NCBI chr10:63,884,338...63,921,709
Ensembl chr10:63,884,338...63,921,709
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    syndrome 7568
      chromosomal duplication syndrome 745
        chromosome 17p13.3 duplication syndrome 5
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            disease of mental health 6921
              Neurodevelopmental Disorders 5563
                Developmental Disabilities 519
                  chromosome 17p13.3 duplication syndrome 5
paths to the root