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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:nephronophthisis 7
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Accession:DOID:0111116 term browser browse the term
Definition:A nephronophthisis that has_material_basis_in homozygous mutation in the GLIS2 gene on chromosome 16p13. (DO)
Synonyms:exact_synonym: NPHP7
 primary_id: MESH:C566930
 alt_id: OMIM:611498


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nephronophthisis 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glis2 GLIS family zinc finger 2 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:611498
ClinVar Annotator: match by term: Nephronophthisis 7		 OMIM
CTD
MouseDO
ClinVar		 PMID:17618285 PMID:23559409 PMID:25741868 PMID:26374130 PMID:28492532 More... NCBI chr10:10,951,157...10,978,524
Ensembl chr10:10,951,371...10,971,578 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Urogenital Diseases 5218
        urinary system disease 2825
          kidney disease 2581
            cystic kidney disease 517
              nephronophthisis 117
                nephronophthisis 7 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal recessive disease 6583
                nephronophthisis 117
                  nephronophthisis 7 1
paths to the root