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: KBG syndrome
Accession: DOID:14780
browse the term
Definition: A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton. (DO)
Synonyms: exact_synonym: KBGS; Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies
primary_id: MESH:C537015
alt_id: OMIM:148050
xref: GARD:82 ; ORDO:2332
For additional species annotation, visit the
Alliance of Genome Resources .
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Acsf3
acyl-CoA synthetase family member 3
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31602316 PMID:31690835
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
DNA:mutations:CDS:multiple (human) DNA:deletions, SNPs:CDS:multiple (human) ClinVar Annotator: match by term: KBG syndrome | ClinVar Annotator: match by term: Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies
OMIM ClinVar RGD
PMID:9536098 PMID:15378538 PMID:15523620 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19344873 PMID:19920853 PMID:21782149 PMID:23463723 PMID:23494856 PMID:24033266 PMID:24088041 PMID:25125236 PMID:25326635 PMID:25356970 PMID:25413698 PMID:25424714 PMID:25464108 PMID:25533962 PMID:25652421 PMID:25741868 PMID:26467025 PMID:26633542 PMID:26633545 PMID:27055092 PMID:27605097 PMID:27651234 PMID:27667800 PMID:27900361 PMID:28449295 PMID:28492532 PMID:28529015 PMID:28708303 PMID:28976722 PMID:29258554 PMID:29517769 PMID:29565525 PMID:30182498 PMID:30202406 PMID:30919572 PMID:30945278 PMID:31191201 PMID:31337854 PMID:31602316 PMID:31607427 PMID:31690835 PMID:32124548 PMID:32222090 PMID:32238909 PMID:32581362 PMID:33955014 PMID:35330407 PMID:35682590 PMID:35710456 PMID:35833929 PMID:35970914 PMID:25424714 PMID:21782149 More...
RGD:11086621 , RGD:11068938
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: KBG syndrome
ClinVar
PMID:28492532 PMID:31690835
NCBI chr19:50,626,436...50,628,404
Ensembl chr19:50,626,202...50,628,431
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Cbfa2t3
CBFA2/RUNX1 partner transcriptional co-repressor 3
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31690835
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: KBG syndrome
ClinVar
PMID:28492532 PMID:31602316 PMID:31690835
NCBI chr19:50,903,757...50,927,151
Ensembl chr19:50,903,638...50,927,105
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Cdk10
cyclin-dependent kinase 10
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31602316
NCBI chr19:51,260,012...51,273,009
Ensembl chr19:51,261,356...51,269,078
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Cdt1
chromatin licensing and DNA replication factor 1
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31690835
NCBI chr19:50,620,713...50,625,659
Ensembl chr19:50,620,713...50,625,659
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Chmp1a
charged multivesicular body protein 1A
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31602316
NCBI chr19:51,238,153...51,246,433
Ensembl chr19:51,238,160...51,246,436
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Cpne7
copine 7
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31602316
NCBI chr19:51,164,316...51,182,677
Ensembl chr19:51,166,034...51,182,677
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Ctu2
cytosolic thiouridylase subunit 2
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
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: KBG syndrome
ClinVar
PMID:31690835
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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Dpep1
dipeptidase 1
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31602316
NCBI chr19:51,209,831...51,237,004
Ensembl chr19:51,219,660...51,235,257
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Fanca
FA complementation group A
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31602316
NCBI chr19:51,304,021...51,362,586
Ensembl chr19:51,304,021...51,362,527
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Galns
galactosamine (N-acetyl)-6-sulfatase
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31690835
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: KBG syndrome
ClinVar
PMID:31690835
NCBI chr19:50,484,890...50,486,169
Ensembl chr19:50,484,890...50,486,169
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Kat6b
lysine acetyltransferase 6B
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:25741868
NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316
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Mvd
mevalonate diphosphate decarboxylase
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr19:50,496,366...50,506,389
Ensembl chr19:50,496,367...50,507,971
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Pabpn1l
PABPN1 like
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31690835
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: KBG syndrome
ClinVar
PMID:31690835
NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
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Raf1
Raf-1 proto-oncogene, serine/threonine kinase
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317
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Rnf166
ring finger protein 166
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
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: KBG syndrome
ClinVar
PMID:28492532 PMID:31602316
NCBI chr19:51,153,990...51,156,541
Ensembl chr19:51,153,924...51,163,014
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Setd5
SET domain containing 5
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
NCBI chr 4:146,217,172...146,294,896
Ensembl chr 4:146,217,180...146,294,894
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Snai3
snail family transcriptional repressor 3
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr19:50,516,771...50,529,295
Ensembl chr19:50,516,771...50,523,486
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Spata2L
spermatogenesis associated 2-like
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31602316
NCBI chr19:51,269,078...51,273,605
Ensembl chr19:51,269,078...51,273,510
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Spata33
spermatogenesis associated 33
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31602316
NCBI chr19:51,246,514...51,258,894
Ensembl chr19:51,246,514...51,258,894
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Tbx1
T-box transcription factor 1
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380
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Trappc2l
trafficking protein particle complex subunit 2L
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:21782149 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31690835
NCBI chr19:50,662,507...50,666,193
Ensembl chr19:50,662,507...50,666,192
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Vps9d1
VPS9 domain containing 1
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31602316
NCBI chr19:51,276,998...51,290,642
Ensembl chr19:51,277,000...51,290,634
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Zc3h18
zinc finger CCCH-type containing 18
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr19:50,434,864...50,479,855
Ensembl chr19:50,434,903...50,479,854
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Zfp26
zinc finger protein 26
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31602316 PMID:31690835
NCBI chr 8:18,959,656...18,985,647
Ensembl chr 8:18,965,271...18,988,325
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Zfp276
zinc finger protein (C2H2 type) 276
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:28492532 PMID:31602316
NCBI chr19:51,291,005...51,304,240
Ensembl chr19:51,290,777...51,304,049
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Zfp469
zinc finger protein 469
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr19:50,282,434...50,324,010
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Zfpm1
zinc finger protein, multitype 1
ISO
ClinVar Annotator: match by term: KBG syndrome
ClinVar
PMID:31690835
NCBI chr19:50,334,352...50,391,029
Ensembl chr19:50,334,682...50,390,591
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