Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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



show annotations for term's descendants           Sort by:
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 PMID:25966638 PMID:26467025 PMID:27391121 PMID:28492532 More... NCBI chr 8:51,117,057...51,188,790
Ensembl chr 8:51,119,365...51,182,261
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    physical disorder 4950
      congenital disorder of glycosylation 539
        Gillessen-Kaesbach-Nishimura Dysplasia 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      Skin and Connective Tissue Diseases 7431
        connective tissue disease 5757
          bone disease 4270
            bone development disease 2303
              dysostosis 576
                synostosis 375
                  craniosynostosis 315
                    Gillessen-Kaesbach-Nishimura Dysplasia 1
paths to the root