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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:distal 10q deletion syndrome
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Accession:DOID:0060390 term browser browse the term
Definition:A chromosomal deletion syndrome that is characterized by developmental delay, intellectual disability, behavioral problems and facial facies caused by a missing copy of the long arm of chromosome 10. (DO)
Synonyms:exact_synonym: Terminal Chromosome 10q26 Deletion Syndrome;   chromosome 10q26 deletion syndrome;   distal monosomy 10q;   monosomy 10qter;   telomeric deletion 10q
 primary_id: MESH:C567182
 alt_id: MIM:609625;   RDO:0015324
 xref: ORDO:96148

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show annotations for term's descendants           Sort by:
distal 10q deletion syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam12 ADAM metallopeptidase domain 12 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:13,963,000...14,189,948
Ensembl chrNW_004936486:13,963,091...14,279,796 		JBrowse link
G Adam8 ADAM metallopeptidase domain 8 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:19,389,925...19,403,577
Ensembl chrNW_004936486:19,391,324...19,402,332 		JBrowse link
G Adgra1 adhesion G protein-coupled receptor A1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:19,235,731...19,277,865
Ensembl chrNW_004936486:19,236,884...19,277,866 		JBrowse link
G Bnip3 BCL2 interacting protein 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:18,449,371...18,460,435
Ensembl chrNW_004936486:18,448,494...18,455,927 		JBrowse link
G Caly calcyon neuron specific vesicular protein ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:19,463,989...19,471,976
Ensembl chrNW_004936486:19,464,158...19,472,176 		JBrowse link
G Cfap46 cilia and flagella associated protein 46 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:19,046,898...19,126,746
Ensembl chrNW_004936486:19,046,898...19,126,745 		JBrowse link
G Clrn3 clarin 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:15,408,712...15,421,224
Ensembl chrNW_004936486:15,408,689...15,421,224 		JBrowse link
G CUNH10orf90 chromosome unknown C10orf90 homolog ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:14,311,976...14,499,733
Ensembl chrNW_004936486:14,311,431...14,499,902 		JBrowse link
G Dhx32 DEAH-box helicase 32 (putative) ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:13,831,072...13,871,453
Ensembl chrNW_004936486:13,831,072...13,871,434 		JBrowse link
G Dock1 dedicator of cytokinesis 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:14,583,042...15,092,164
Ensembl chrNW_004936486:14,692,532...15,092,307 		JBrowse link
G Dpysl4 dihydropyrimidinase like 4 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:18,583,663...18,600,297
Ensembl chrNW_004936486:18,583,611...18,600,279 		JBrowse link
G Ebf3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:16,978,048...17,092,209
Ensembl chrNW_004936486:16,976,442...17,092,228 		JBrowse link
G Echs1 enoyl-CoA hydratase, short chain 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:19,488,619...19,496,583
Ensembl chrNW_004936486:19,488,554...19,496,575 		JBrowse link
G Fank1 fibronectin type III and ankyrin repeat domains 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:13,935,713...13,955,129
Ensembl chrNW_004936486:13,935,591...13,955,028 		JBrowse link
G Foxi2 forkhead box I2 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:15,320,044...15,321,691
Ensembl chrNW_004936486:15,320,044...15,321,691 		JBrowse link
G Glrx3 glutaredoxin 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:17,201,838...17,233,171
Ensembl chrNW_004936486:17,207,309...17,233,171 		JBrowse link
G Inpp5a inositol polyphosphate-5-phosphatase A ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:18,893,958...19,022,450
Ensembl chrNW_004936486:18,893,909...19,022,477 		JBrowse link
G Insyn2a inhibitory synaptic factor 2A ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:14,827,461...14,883,487
Ensembl chrNW_004936486:14,827,459...14,883,493 		JBrowse link
G Jakmip3 Janus kinase and microtubule interacting protein 3 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:18,481,413...18,583,030
Ensembl chrNW_004936486:18,509,166...18,567,463 		JBrowse link
G Kndc1 kinase non-catalytic C-lobe domain containing 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:19,287,468...19,341,127
Ensembl chrNW_004936486:19,287,462...19,341,145 		JBrowse link
G LOC101973029 cytochrome P450 2E1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:19,691,822...19,702,684
Ensembl chrNW_004936486:19,691,822...19,702,102 		JBrowse link
G Lrrc27 leucine rich repeat containing 27 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:18,693,268...18,727,295
Ensembl chrNW_004936486:18,693,266...18,727,323 		JBrowse link
G Mgmt O-6-methylguanine-DNA methyltransferase ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:16,744,607...16,923,209
Ensembl chrNW_004936486:16,744,570...16,923,543 		JBrowse link
G Mki67 marker of proliferation Ki-67 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:15,561,327...15,587,109 JBrowse link
G Mtg1 mitochondrial ribosome associated GTPase 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:19,512,043...19,524,132
Ensembl chrNW_004936486:19,513,990...19,523,829 		JBrowse link
G Nkx6-2 NK6 homeobox 2 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:19,024,106...19,025,387
Ensembl chrNW_004936486:19,024,263...19,025,390 		JBrowse link
G Nps neuropeptide S ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:15,172,068...15,175,568
Ensembl chrNW_004936486:15,172,256...15,175,339 		JBrowse link
G Paox polyamine oxidase ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:19,503,631...19,511,918
Ensembl chrNW_004936486:19,503,631...19,511,920 		JBrowse link
G Ppp2r2d protein phosphatase 2 regulatory subunit Bdelta ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:18,424,336...18,443,485
Ensembl chrNW_004936486:18,420,764...18,443,485 		JBrowse link
G Prap1 proline rich acidic protein 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:19,477,278...19,480,387
Ensembl chrNW_004936486:19,477,453...19,480,297 		JBrowse link
G Ptpre protein tyrosine phosphatase receptor type E ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:15,484,304...15,559,842
Ensembl chrNW_004936486:15,484,300...15,559,849 		JBrowse link
G Pwwp2b PWWP domain containing 2B ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:18,744,434...18,757,227
Ensembl chrNW_004936486:18,745,150...18,746,814 		JBrowse link
G Sprn shadow of prion protein ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:19,524,139...19,528,959
Ensembl chrNW_004936486:19,526,395...19,529,292 		JBrowse link
G Stk32c serine/threonine kinase 32C ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:18,601,854...18,674,686
Ensembl chrNW_004936486:18,599,273...18,674,692 		JBrowse link
G Syce1 synaptonemal complex central element protein 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:19,723,354...19,731,175
Ensembl chrNW_004936486:19,723,627...19,727,770 		JBrowse link
G Tcerg1l transcription elongation regulator 1 like ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:17,817,739...17,876,408
Ensembl chrNW_004936486:17,817,726...17,985,466 		JBrowse link
G Tubgcp2 tubulin gamma complex component 2 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:19,404,651...19,423,601
Ensembl chrNW_004936486:19,402,526...19,421,976 		JBrowse link
G Utf1 undifferentiated embryonic cell transcription factor 1 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:19,345,059...19,346,163 JBrowse link
G Ventx VENT homeobox ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:19,434,362...19,436,025 JBrowse link
G Znf511 zinc finger protein 511 ISO ClinVar Annotator: match by term: Distal 10q deletion syndrome ClinVar PMID:31690835 NCBI chrNW_004936486:19,422,804...19,426,637
Ensembl chrNW_004936486:19,423,879...19,426,339 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14615
    syndrome 9901
      chromosomal deletion syndrome 1439
        distal 10q deletion syndrome 40
Path 2
Term Annotations click to browse term
  disease 14615
    disease of anatomical entity 14320
      nervous system disease 12594
        central nervous system disease 11248
          brain disease 10565
            disease of mental health 7572
              developmental disorder of mental health 5169
                specific developmental disorder 4283
                  communication disorder 378
                    learning disability 182
                      distal 10q deletion syndrome 40
paths to the root