Send us a Message



 Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer ACP Haplotyper Genome Scanner VCMap
Aging & Age-Related Disease Cancer Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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.

show annotations for term's descendants           Sort by:
 
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 subunit 2L 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 16909
    syndrome 7568
      16Q24.3 Microdeletion Syndrome 31
Path 2
Term Annotations click to browse term
  disease 16909
    Pathological Conditions, Signs and Symptoms 9879
      Pathologic Processes 6532
        Chromosome Aberrations 1739
          Aneuploidy 1022
            Monosomy 925
              Chromosome Deletion 925
                16Q24.3 Microdeletion Syndrome 31
paths to the root