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
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Acsf3
acyl-CoA synthetase family member 3
ISO
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome
ClinVar
NCBI chr19:50,835,116...50,875,557
Ensembl chr19:50,835,221...50,875,553
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Ankrd11
ankyrin repeat domain containing 11
ISO
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome
ClinVar
NCBI chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962
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Aprt
adenine phosphoribosyl transferase
ISO
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome
ClinVar
NCBI chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431
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Banp
Btg3 associated nuclear protein
ISO
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome
ClinVar
NCBI chr19:50,007,710...50,082,742
Ensembl chr19:50,007,881...50,082,738
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C19h16orf95
similar to human chromosome 16 open reading frame 95
ISO
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome
ClinVar
NCBI chr19:49,605,818...49,618,466
Ensembl chr19:49,605,818...49,618,702
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Car5a
carbonic anhydrase 5A
ISO
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome
ClinVar
NCBI chr19:49,973,092...50,002,948
Ensembl chr19:49,973,107...50,002,906
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Cbfa2t3
CBFA2/RUNX1 partner transcriptional co-repressor 3
ISO
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome
ClinVar
NCBI chr19:50,679,897...50,750,028
Ensembl chr19:50,680,729...50,749,610
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Cdh15
cadherin 15
ISO
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome
ClinVar
NCBI chr19:50,903,757...50,927,151
Ensembl chr19:50,903,638...50,927,105
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Cdt1
chromatin licensing and DNA replication factor 1
ISO
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome
ClinVar
NCBI chr19:50,620,713...50,625,659
Ensembl chr19:50,620,713...50,625,659
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Cpne7
copine 7
ISO
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome
ClinVar
NCBI chr19:51,164,316...51,182,676
Ensembl chr19:51,166,034...51,182,677
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Ctu2
cytosolic thiouridylase subunit 2
ISO
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome
ClinVar
NCBI chr19:50,539,184...50,544,629
Ensembl chr19:50,539,352...50,544,623
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Cyba
cytochrome b-245 alpha chain
ISO
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome
ClinVar
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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Fbxo31
F-box protein 31
ISO
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome
ClinVar
NCBI chr19:49,624,813...49,656,052
Ensembl chr19:49,627,686...49,656,010
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Galns
galactosamine (N-acetyl)-6-sulfatase
ISO
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome
ClinVar
NCBI chr19:50,628,639...50,662,477
Ensembl chr19:50,628,552...50,662,246
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Il17c
interleukin 17C
ISO
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome
ClinVar
NCBI chr19:50,484,890...50,486,169
Ensembl chr19:50,484,890...50,486,169
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Jph3
junctophilin 3
ISO
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome
ClinVar
NCBI chr19:49,793,967...49,855,338
Ensembl chr19:49,793,092...49,855,338
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Klhdc4
kelch domain containing 4
ISO
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome
ClinVar
NCBI chr19:49,860,975...49,894,027
Ensembl chr19:49,860,967...49,894,868
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Map1lc3b
microtubule-associated protein 1 light chain 3 beta
ISO
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome
ClinVar
NCBI chr19:49,665,795...49,673,655
Ensembl chr19:49,665,791...49,677,690
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Mvd
mevalonate diphosphate decarboxylase
ISO
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome
ClinVar
NCBI chr19:50,496,366...50,506,429
Ensembl chr19:50,496,367...50,507,971
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Pabpn1l
PABPN1 like
ISO
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome
ClinVar
NCBI chr19:50,669,965...50,673,409
Ensembl chr19:50,669,967...50,673,366
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Piezo1
piezo-type mechanosensitive ion channel component 1
ISO
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome
ClinVar
NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
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Rnf166
ring finger protein 166
ISO
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome
ClinVar
NCBI chr19:50,529,434...50,539,274
Ensembl chr19:50,529,434...50,539,274
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Rpl13
ribosomal protein L13
ISO
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome
ClinVar
NCBI chr19:51,153,990...51,156,541
Ensembl chr19:51,153,924...51,163,014
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Slc7a5
solute carrier family 7 member 5
ISO
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome
ClinVar
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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Snai3
snail family transcriptional repressor 3
ISO
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome
ClinVar
NCBI chr19:50,516,771...50,529,295
Ensembl chr19:50,516,771...50,523,486
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Trappc2l
trafficking protein particle complex subunit 2L
ISO
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome
ClinVar
NCBI chr19:50,662,507...50,666,193
Ensembl chr19:50,662,507...50,666,192
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Zc3h18
zinc finger CCCH-type containing 18
ISO
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome
ClinVar
NCBI chr19:50,434,864...50,479,855
Ensembl chr19:50,434,903...50,479,854
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Zcchc14
zinc finger CCHC-type containing 14
ISO
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome
ClinVar
NCBI chr19:49,674,185...49,718,004
Ensembl chr19:49,674,195...49,718,029
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Zfp26
zinc finger protein 26
ISO
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome
ClinVar
NCBI chr 8:18,959,656...18,985,647
Ensembl chr 8:18,965,271...18,988,325
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Zfp469
zinc finger protein 469
ISO
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome
ClinVar
NCBI chr19:50,282,337...50,324,010
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Zfpm1
zinc finger protein, multitype 1
ISO
ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome
ClinVar
NCBI chr19:50,334,352...50,391,029
Ensembl chr19:50,334,682...50,390,591
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