ONTOLOGY REPORT - ANNOTATIONS


Term:Gillessen-Kaesbach-Nishimura Dysplasia
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Accession:DOID:9001306 term browser browse the term
Synonyms:exact_synonym: GIKANIS;   Gillessen-Kaesbach-Nishimura skeletal dysplasia;   Gillessen-Kaesbach-Nishimura syndrome;   POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE, WITH MICROBRACHYCEPHALY, HYPERTELORISM, AND BRACHYMELIA;   polycystic kidney disease, Potter type I, with microbrachycephaly, hypertelorism, and brachymelia
 primary_id: MESH:C564881
 alt_id: OMIM:263210;   RDO:0013697;   RDO:9000745
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Gillessen-Kaesbach-Nishimura Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg9 ALG9, alpha-1,2-mannosyltransferase JBrowse link 8 55,202,140 55,265,478 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      musculoskeletal system disease 3997
        Musculoskeletal Abnormalities 1196
          synostosis 148
            craniosynostosis 112
              Gillessen-Kaesbach-Nishimura Dysplasia 1
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      musculoskeletal system disease 3997
        connective tissue disease 2585
          bone disease 2125
            bone development disease 895
              dysostosis 233
                synostosis 148
                  craniosynostosis 112
                    Gillessen-Kaesbach-Nishimura Dysplasia 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.