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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 17q12 deletion syndrome
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Accession:DOID:0060404 term browser browse the term
Definition:A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q12 deletion and that is characterized by renal cystic disease, maturity onset diabetes of the young type 5, cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. (DO)
Synonyms:exact_synonym: 17q12 microdeletion syndrome
 primary_id: OMIM:614527
 xref: GARD:13297;   ORDO:261265
For additional species annotation, visit the Alliance of Genome Resources.



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chromosome 17q12 deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aatf apoptosis antagonizing transcription factor ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:69,299,029...69,392,207
Ensembl chr10:69,299,037...69,392,201
JBrowse link
G Acaca acetyl-CoA carboxylase alpha ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:69,014,261...69,276,453
Ensembl chr10:69,014,170...69,276,457
JBrowse link
G Ccl3 C-C motif chemokine ligand 3 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:24088041 PMID:26633545 NCBI chr10:68,451,388...68,452,938
Ensembl chr10:68,451,388...68,452,938
JBrowse link
G Ccl4 C-C motif chemokine ligand 4 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:24088041 PMID:26633545 NCBI chr10:68,466,469...68,467,941
Ensembl chr10:68,452,052...68,468,231
JBrowse link
G Ddx52 DExD-box helicase 52 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:68,824,594...68,847,400
Ensembl chr10:68,824,645...68,848,266
JBrowse link
G Dhrs11 dehydrogenase/reductase 11 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:69,698,214...69,708,294
Ensembl chr10:69,698,214...69,708,295
JBrowse link
G Dusp14 dual specificity phosphatase 14 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:68,936,483...68,966,347
Ensembl chr10:68,935,330...68,965,329
JBrowse link
G Ggnbp2 gametogenetin binding protein 2 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:69,711,527...69,743,134
Ensembl chr10:69,711,532...69,743,365
JBrowse link
G Hnf1b HNF1 homeobox B ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888
JBrowse link
G Lhx1 LIM homeobox 1 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:69,396,829...69,403,617
Ensembl chr10:69,396,829...69,403,617
JBrowse link
G LOC102552988 uncharacterized LOC102552988 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:69,034,887...69,054,100
Ensembl chr10:69,037,708...69,054,113
JBrowse link
G Mrm1 mitochondrial rRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:69,690,406...69,697,326
Ensembl chr10:69,690,421...69,696,709
JBrowse link
G Mrpl45 mitochondrial ribosomal protein L45 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:24088041 PMID:26633545 NCBI chr10:82,308,650...82,320,474
Ensembl chr10:82,308,427...82,320,474
JBrowse link
G Myo19 myosin XIX ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:69,753,082...69,782,450
Ensembl chr10:69,753,068...69,782,450
JBrowse link
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:69,746,996...69,782,656
Ensembl chr10:69,748,789...69,790,475
JBrowse link
G Synrg synergin, gamma ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:68,848,828...68,931,252 JBrowse link
G Tada2a transcriptional adaptor 2A ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:68,966,502...69,014,149
Ensembl chr10:68,966,502...69,014,105
JBrowse link
G Znhit3 zinc finger, HIT-type containing 3 ISO ClinVar Annotator: match by term: Chromosome 17q12 deletion syndrome ClinVar PMID:17924346 PMID:21055719 PMID:24088041 PMID:26633545 NCBI chr10:69,775,885...69,790,471
Ensembl chr10:69,780,210...69,790,446
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      chromosomal deletion syndrome 1005
        chromosome 17q12 deletion syndrome 18
Path 2
Term Annotations click to browse term
  disease 17289
    Pathological Conditions, Signs and Symptoms 10289
      Pathologic Processes 6728
        Chromosome Aberrations 1868
          Aneuploidy 1148
            Monosomy 1047
              Chromosome Deletion 1047
                chromosomal deletion syndrome 1005
                  chromosome 17q12 deletion syndrome 18
paths to the root