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nephronophthisis 16 - Ontology Report - Rat Genome Database

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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: ANKS6-RELATED CONDITION;   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 5:66,104,770...66,146,186
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 19140
    disease of anatomical entity 18453
      Urogenital Diseases 5402
        urinary system disease 2834
          kidney disease 2580
            cystic kidney disease 523
              nephronophthisis 118
                nephronophthisis 16 1
Path 2
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10964
            autosomal genetic disease 10452
              autosomal recessive disease 7136
                nephronophthisis 118
                  nephronophthisis 16 1
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