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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
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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
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    syndrome 5218
      KBG syndrome 2
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        central nervous system disease 8118
          brain disease 7587
            disease of mental health 5531
              developmental disorder of mental health 2718
                specific developmental disorder 1890
                  intellectual disability 1712
                    KBG syndrome 2
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