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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:16Q24.3 Microdeletion Syndrome
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Accession:DOID:9003864 term browser browse the term
Definition:A syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. (Orphanet)
Synonyms:primary_id: RDO:9001300
 alt_id: ORPHA:261250
For additional species annotation, visit the Alliance of Genome Resources.


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16Q24.3 Microdeletion Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsf3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,594,801...55,635,312
Ensembl chr19:55,594,831...55,635,122
JBrowse link
G Ankrd11 ankyrin repeat domain 11 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,703,831...55,862,446
Ensembl chr19:55,703,824...55,737,500
JBrowse link
G Aprt adenine phosphoribosyl transferase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,387,288...55,389,256
Ensembl chr19:55,387,288...55,389,256
JBrowse link
G Banp Btg3 associated nuclear protein ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:54,766,441...54,843,795
Ensembl chr19:54,766,589...54,840,569
JBrowse link
G Ca5a carbonic anhydrase 5A ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:54,731,829...54,761,697
Ensembl chr19:54,731,859...54,761,670
JBrowse link
G Cbfa2t3 CBFA2/RUNX1 partner transcriptional co-repressor 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,438,409...55,510,652
Ensembl chr19:55,441,572...55,510,460
JBrowse link
G Cdh15 cadherin 15 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,669,661...55,689,986
Ensembl chr19:55,669,626...55,689,992
JBrowse link
G Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,381,565...55,386,511
Ensembl chr19:55,381,565...55,386,511
JBrowse link
G Cpne7 copine 7 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,929,555...55,946,251
Ensembl chr19:55,929,609...55,946,250
JBrowse link
G Ctu2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,300,531...55,305,543
Ensembl chr19:55,300,395...55,305,702
JBrowse link
G Cyba cytochrome b-245 alpha chain ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,249,634...55,257,824
Ensembl chr19:55,249,616...55,257,876
JBrowse link
G Fbxo31 F-box protein 31 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:53,487,610...53,625,673
Ensembl chr19:53,487,613...53,625,673
JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,391,004...55,423,328
Ensembl chr19:55,389,462...55,423,150
JBrowse link
G Il17c interleukin 17C ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,246,926...55,248,688
Ensembl chr19:55,246,926...55,248,205
JBrowse link
G Jph3 junctophilin 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:54,553,419...54,613,477
Ensembl chr19:54,553,419...54,613,477
JBrowse link
G Klhdc4 kelch domain containing 4 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:54,651,911...54,652,381
Ensembl chr19:54,651,911...54,652,381
JBrowse link
G LOC687560 hypothetical protein LOC687560 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:53,467,806...53,481,093
Ensembl chr19:53,468,054...53,477,420
JBrowse link
G Map1lc3b microtubule-associated protein 1 light chain 3 beta ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:53,635,449...53,643,970
Ensembl chr19:53,629,779...53,646,058
JBrowse link
G Mvd mevalonate diphosphate decarboxylase ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,258,910...55,268,933
Ensembl chr19:55,258,905...55,268,951
JBrowse link
G Pabpn1l poly(A)binding protein nuclear 1-like ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,430,808...55,434,252
Ensembl chr19:55,430,810...55,434,252
JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,305,494...55,367,680
Ensembl chr19:55,305,496...55,367,353
JBrowse link
G Rnf166 ring finger protein 166 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,290,563...55,300,403
Ensembl chr19:55,290,563...55,300,403
JBrowse link
G Rpl13 ribosomal protein L13 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,917,489...55,920,040
Ensembl chr19:55,917,736...55,919,996
JBrowse link
G Slc7a5 solute carrier family 7 member 5 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:54,693,959...54,722,563
Ensembl chr19:54,693,959...54,722,563
JBrowse link
G Snai3 snail family transcriptional repressor 3 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,276,211...55,290,031
Ensembl chr19:55,277,549...55,284,663
JBrowse link
G Trappc2l trafficking protein particle complex 2-like ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,423,350...55,428,551
Ensembl chr19:55,423,350...55,427,036
JBrowse link
G Zc3h18 zinc finger CCCH-type containing 18 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,197,348...55,241,800
Ensembl chr19:55,197,704...55,241,851
JBrowse link
G Zcchc14 zinc finger CCHC-type containing 14 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:53,644,500...53,688,624
Ensembl chr19:53,647,815...53,688,597
JBrowse link
G Zfp26 zinc finger protein 26 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr 8:21,444,833...21,466,474
Ensembl chr 8:21,448,618...21,458,379
JBrowse link
G Zfp469 zinc finger protein 469 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:54,843,864...55,083,935 JBrowse link
G Zfpm1 zinc finger protein, multitype 1 ISO ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome ClinVar NCBI chr19:55,094,585...55,150,994
Ensembl chr19:55,094,585...55,150,686
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      16Q24.3 Microdeletion Syndrome 31
Path 2
Term Annotations click to browse term
  disease 16108
    Pathological Conditions, Signs and Symptoms 8726
      Pathologic Processes 6130
        Chromosome Aberrations 1720
          Aneuploidy 1004
            Monosomy 909
              Chromosome Deletion 909
                16Q24.3 Microdeletion Syndrome 31
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.