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ONTOLOGY REPORT - ANNOTATIONS


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;   RDO:0002762
 alt_id: OMIM:148050
 xref: GARD:82;   ORDO:2332
For additional species annotation, visit the Alliance of Genome Resources.


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KBG syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankrd11 ankyrin repeat domain 11 JBrowse link 19 55,703,831 55,862,446 RGD:7240710
RGD:8554872

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Path 1
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  disease 14759
    syndrome 4210
      KBG syndrome 1
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    KBG syndrome 1
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