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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;   autosomal recessive polycystic kidney disease, 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 16022
    disease of anatomical entity 15275
      musculoskeletal system disease 5539
        Musculoskeletal Abnormalities 1504
          synostosis 211
            craniosynostosis 171
              Gillessen-Kaesbach-Nishimura Dysplasia 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      musculoskeletal system disease 5539
        connective tissue disease 4007
          bone disease 3471
            bone development disease 1263
              dysostosis 319
                synostosis 211
                  craniosynostosis 171
                    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.