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
Accession: DOID:0060432
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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
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Abr
ABR activator of RhoGEF and GTPase
ISO
ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome
ClinVar
PMID:21681106
NCBI chr10:61,262,516...61,461,331
Ensembl chr10:61,262,516...61,461,505
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Bhlha9
basic helix-loop-helix family, member a9
ISO
ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome
ClinVar
PMID:21681106
NCBI chr10:61,513,609...61,514,730
Ensembl chr10:61,513,609...61,514,301
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Crk
CRK proto-oncogene, adaptor protein
ISO
ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome
ClinVar
PMID:21681106
NCBI chr10:60,530,469...60,556,703
Ensembl chr10:60,530,464...60,553,406
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Trarg1
trafficking regulator of GLUT4 (SLC2A4) 1
ISO
ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome
ClinVar
PMID:21681106
NCBI chr10:61,521,107...61,541,494
Ensembl chr10:61,521,107...61,541,494
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Ywhae
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ISO
ClinVar Annotator: match by term: Chromosome 17p13.3 duplication syndrome
ClinVar
PMID:21681106
NCBI chr10:60,584,665...60,622,352
Ensembl chr10:60,584,652...60,671,589
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