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

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Path 1
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  disease 14875
    syndrome 4220
      KBG syndrome 2
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            disease of mental health 4325
              developmental disorder of mental health 2595
                specific developmental disorder 1330
                  intellectual disability 1158
                    KBG syndrome 2
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