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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 16
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Accession:DOID:0111124 term browser browse the term
Definition:A nephronophthisis that has_material_basis_in homozygous mutation in the ANKS6 gene on chromosome 9q22. (DO)
Synonyms:exact_synonym: NPHP16
 primary_id: OMIM:615382;   RDO:9000926
For additional species annotation, visit the Alliance of Genome Resources.



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nephronophthisis 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anks6 ankyrin repeat and sterile alpha motif domain containing 6 ISO ClinVar Annotator: match by OMIM:615382
ClinVar Annotator: match by term: Nephronophthisis 16
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:23793029 PMID:24610927 PMID:25741868 More... NCBI chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      Urogenital Diseases 4437
        urinary system disease 2198
          kidney disease 1979
            cystic kidney disease 260
              nephronophthisis 57
                nephronophthisis 16 1
Path 2
Term Annotations click to browse term
  disease 17435
    Developmental Disease 11133
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9666
        genetic disease 9072
          monogenic disease 7224
            autosomal genetic disease 6350
              autosomal recessive disease 3544
                nephronophthisis 57
                  nephronophthisis 16 1
paths to the root