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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:KBG syndrome
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Accession:DOID:14780 term browser 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.

show annotations for term's descendants           Sort by:
 
KBG syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd11 ankyrin repeat domain 11 ISO ClinVar Annotator: match by term: KBG syndrome
ClinVar Annotator: match by OMIM:148050		 OMIM
ClinVar		 PMID:15184363, PMID:15378538, PMID:15523620, PMID:17163996, PMID:17230487, PMID:17508425, PMID:17526801, PMID:18414213, PMID:19920853, PMID:21782149, PMID:23184435, PMID:23463723, PMID:23494856, PMID:23885231, PMID:24033266, PMID:24088041, PMID:25125236, PMID:25326635, PMID:25413698, PMID:25424714, PMID:25652421, PMID:25741868, PMID:26467025, PMID:26633545, PMID:27055092, PMID:27435318, PMID:27605097, PMID:27667800, PMID:28422132, PMID:28492532, PMID:28708303, PMID:32238909, PMID:32581362 NCBI chr19:55,703,831...55,862,446
Ensembl chr19:55,703,824...55,737,500 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:25741868 NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576 		JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar NCBI chr 4:145,017,549...145,095,247
Ensembl chr 4:145,017,608...145,095,245 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar NCBI chr11:86,552,022...86,561,647
Ensembl chr11:86,552,022...86,560,969 		JBrowse link
G Trappc2l trafficking protein particle complex 2-like ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:21782149, PMID:26467025, PMID:28492532 NCBI chr19:55,423,350...55,428,551
Ensembl chr19:55,423,350...55,427,036 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      KBG syndrome 5
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            disease of mental health 6047
              developmental disorder of mental health 3163
                specific developmental disorder 2343
                  intellectual disability 2166
                    KBG syndrome 5
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.