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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar
OMIM
PMID:25741868 PMID:25966638 NCBI chr 8:55,202,140...55,265,478
Ensembl chr 8:55,202,725...55,265,478
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    physical disorder 2486
      congenital disorder of glycosylation 127
        Gillessen-Kaesbach-Nishimura Dysplasia 1
Path 2
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      Skin and Connective Tissue Diseases 4972
        connective tissue disease 3641
          bone disease 2998
            bone development disease 1325
              dysostosis 340
                synostosis 228
                  craniosynostosis 173
                    Gillessen-Kaesbach-Nishimura Dysplasia 1
paths to the root