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
Accession: DOID:9003864
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 .
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all