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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: MIM:615382


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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 term: Nephronophthisis 16 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23793029 PMID:24610927 PMID:25599650 More... NCBI chr 5:61,309,183...61,350,596
Ensembl chr 5:61,309,183...61,350,596 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19106
    disease of anatomical entity 18445
      Urogenital Diseases 5375
        urinary system disease 2832
          kidney disease 2580
            cystic kidney disease 520
              nephronophthisis 117
                nephronophthisis 16 1
Path 2
Term Annotations click to browse term
  disease 19106
    Developmental Disease 14617
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13628
        genetic disease 13290
          monogenic disease 10876
            autosomal genetic disease 10360
              autosomal recessive disease 6959
                nephronophthisis 117
                  nephronophthisis 16 1
paths to the root