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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg9 ALG9 alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Gillessen-Kaesbach-Nishimura syndrome OMIM
ClinVar		 PMID:25741868 PMID:25966638 PMID:26467025 PMID:27391121 PMID:28492532 More... NCBI chrNW_004955412:13,510,714...13,599,216
Ensembl chrNW_004955412:13,514,342...13,598,909 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14194
    physical disorder 4611
      congenital disorder of glycosylation 521
        Gillessen-Kaesbach-Nishimura Dysplasia 1
Path 2
Term Annotations click to browse term
  disease 14194
    disease of anatomical entity 13849
      Skin and Connective Tissue Diseases 6347
        connective tissue disease 4941
          bone disease 3625
            bone development disease 2153
              dysostosis 536
                synostosis 351
                  craniosynostosis 292
                    Gillessen-Kaesbach-Nishimura Dysplasia 1
paths to the root