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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 5, Trisomy 5q
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Accession:DOID:9008063 term browser browse the term
Synonyms:exact_synonym: 5Q35 MICRODUPLICATION SYNDROME;   Duplication 5q;   Trisomy 5q
 primary_id: MESH:C537650;   RDO:0003527

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Chromosome 5, Trisomy 5q term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdhr2 cadherin related family member 2 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004955408:28,832,362...28,871,345
Ensembl chrNW_004955408:28,832,325...28,875,534 		JBrowse link
G Eif4e1b eukaryotic translation initiation factor 4E family member 1B ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004955408:28,910,141...28,913,692
Ensembl chrNW_004955408:28,910,141...28,913,692 		JBrowse link
G Faf2 Fas associated factor family member 2 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004955408:28,737,597...28,797,143
Ensembl chrNW_004955408:28,737,279...28,797,564 		JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004955408:29,370,480...29,383,531
Ensembl chrNW_004955408:29,370,468...29,383,971 		JBrowse link
G Gprin1 G protein regulated inducer of neurite outgrowth 1 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004955408:28,871,379...28,884,961
Ensembl chrNW_004955408:28,872,414...28,875,416 		JBrowse link
G Hk3 hexokinase 3 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004955408:29,132,717...29,149,030
Ensembl chrNW_004955408:29,132,717...29,146,280 		JBrowse link
G Lman2 lectin, mannose binding 2 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004955408:29,581,737...29,597,240
Ensembl chrNW_004955408:29,581,737...29,597,240 		JBrowse link
G Mxd3 MAX dimerization protein 3 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004955408:29,555,028...29,560,589
Ensembl chrNW_004955408:29,555,406...29,559,451 		JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004955408:29,416,393...29,547,444
Ensembl chrNW_004955408:29,413,595...29,542,768 		JBrowse link
G Prelid1 PRELI domain containing 1 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004955408:29,551,253...29,554,778
Ensembl chrNW_004955408:29,551,424...29,554,436 		JBrowse link
G Rab24 RAB24, member RAS oncogene family ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004955408:29,548,839...29,551,184
Ensembl chrNW_004955408:29,548,839...29,551,184 		JBrowse link
G Rgs14 regulator of G protein signaling 14 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004955408:29,602,654...29,616,793
Ensembl chrNW_004955408:29,602,820...29,616,210 		JBrowse link
G Rnf44 ring finger protein 44 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004955408:28,809,383...28,826,587
Ensembl chrNW_004955408:28,809,383...28,825,865 		JBrowse link
G Sncb synuclein beta ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004955408:28,894,204...28,903,095
Ensembl chrNW_004955408:28,894,204...28,903,095 		JBrowse link
G Tspan17 tetraspanin 17 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004955408:28,914,392...28,924,352
Ensembl chrNW_004955408:28,913,871...28,922,489 		JBrowse link
G Uimc1 ubiquitin interaction motif containing 1 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004955408:29,154,373...29,274,817
Ensembl chrNW_004955408:29,154,629...29,274,856 		JBrowse link
G Unc5a unc-5 netrin receptor A ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004955408:29,071,812...29,132,744
Ensembl chrNW_004955408:29,071,792...29,132,037 		JBrowse link
G Znf346 zinc finger protein 346 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chrNW_004955408:29,312,273...29,346,983
Ensembl chrNW_004955408:29,312,274...29,349,316 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    syndrome 9329
      chromosomal duplication syndrome 987
        Trisomy 333
          Chromosome 5, Trisomy 5q 18
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        central nervous system disease 10855
          brain disease 10186
            disease of mental health 7327
              developmental disorder of mental health 4976
                specific developmental disorder 4103
                  intellectual disability 3919
                    Cri-du-Chat syndrome 19
                      Chromosome 5, Trisomy 5q 18
paths to the root