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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:Renal-Hepatic-Pancreatic Dysplasia 2
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Accession:DOID:9001222 term browser browse the term
Synonyms:exact_synonym: RHPD2
 primary_id: OMIM:615415
 alt_id: RDO:9000941
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Renal-Hepatic-Pancreatic Dysplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek8 NIMA-related kinase 8 ISO ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 2 OMIM
ClinVar
PMID:19550299 PMID:23418306 PMID:25741868 PMID:25741876 PMID:26697755 More... NCBI chr10:63,060,868...63,073,546
Ensembl chr10:63,061,253...63,072,416
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      gastrointestinal system disease 6078
        pancreas disease 1117
          renal-hepatic-pancreatic dysplasia 2
            Renal-Hepatic-Pancreatic Dysplasia 2 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Immune & Inflammatory Diseases 4036
        immune system disease 3398
          lymphatic system disease 1333
            splenic disease 140
              visceral heterotaxy 96
                situs inversus 53
                  renal-hepatic-pancreatic dysplasia 2
                    Renal-Hepatic-Pancreatic Dysplasia 2 1
paths to the root