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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



show annotations for term's descendants           Sort by:
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 chr17:9,881,979...9,917,698
Ensembl chr17:9,876,860...9,912,575
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 chr17:9,835,883...9,868,781
Ensembl chr17:9,832,230...9,835,137
JBrowse link
G Faf2 Fas associated factor family member 2 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,952,329...9,994,596
Ensembl chr17:9,947,220...9,989,485
JBrowse link
G Fgfr4 fibroblast growth factor receptor 4 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,466,686...9,481,423
Ensembl chr17:9,461,547...9,476,242
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 chr17:9,869,009...9,881,958
Ensembl chr17:9,863,571...9,876,915
JBrowse link
G Hk3 hexokinase 3 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,602,119...9,620,038
Ensembl chr17:9,599,865...9,614,863
JBrowse link
G Lman2 lectin, mannose-binding 2 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,274,362...9,294,950
Ensembl chr17:9,269,022...9,287,265
JBrowse link
G Mxd3 Max dimerization protein 3 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,306,552...9,310,278
Ensembl chr17:9,301,399...9,305,157
JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,317,085...9,431,528
Ensembl chr17:9,315,237...9,425,358
JBrowse link
G Prelid1 PRELI domain containing 1 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,310,471...9,313,511
Ensembl chr17:9,305,361...9,308,407
JBrowse link
G Rab24 RAB24, member RAS oncogene family ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,313,593...9,315,675
Ensembl chr17:9,308,525...9,310,553
JBrowse link
G Rgs14 regulator of G-protein signaling 14 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,254,112...9,268,233
Ensembl chr17:9,249,019...9,263,104
JBrowse link
G Rnf44 ring finger protein 44 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,925,100...9,939,496
Ensembl chr17:9,919,993...9,932,193
JBrowse link
G Sncb synuclein, beta ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,851,825...9,860,143
Ensembl chr17:9,846,802...9,855,012
JBrowse link
G Tspan17 tetraspanin 17 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,824,353...9,831,985
Ensembl chr17:9,819,202...9,826,834
JBrowse link
G Uimc1 ubiquitin interaction motif containing 1 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,528,923...9,597,967
Ensembl chr17:9,527,794...9,592,799
JBrowse link
G Unc5a unc-5 netrin receptor A ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,620,005...9,675,794
Ensembl chr17:9,614,838...9,670,526
JBrowse link
G Zfp346 zinc finger protein 346 ISO ClinVar Annotator: match by term: 5q35 microduplication syndrome ClinVar PMID:31690835 NCBI chr17:9,498,933...9,528,824
Ensembl chr17:9,493,803...9,523,635
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19142
    syndrome 11377
      chromosomal duplication syndrome 1292
        Trisomy 370
          Chromosome 5, Trisomy 5q 18
Path 2
Term Annotations click to browse term
  disease 19142
    disease of anatomical entity 18455
      nervous system disease 14362
        central nervous system disease 12636
          brain disease 11856
            disease of mental health 8455
              developmental disorder of mental health 5649
                specific developmental disorder 4612
                  intellectual disability 4385
                    Cri-du-Chat syndrome 19
                      Chromosome 5, Trisomy 5q 18
paths to the root