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



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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 ClinVar Annotator: match by term: Nephronophthisis 7 OMIM
ClinVar
PMID:17618285 PMID:23559409 PMID:25741868 PMID:26374130 PMID:28492532 NCBI chr10:10,951,157...10,978,524
Ensembl chr10:10,951,371...10,971,578
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      Urogenital Diseases 4700
        urinary system disease 2386
          kidney disease 2158
            cystic kidney disease 285
              nephronophthisis 100
                nephronophthisis 7 1
Path 2
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11579
        genetic disease 11109
          monogenic disease 8599
            autosomal genetic disease 7602
              autosomal recessive disease 4638
                nephronophthisis 100
                  nephronophthisis 7 1
paths to the root