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ONTOLOGY REPORT - ANNOTATIONS


Term:nephronophthisis 2
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Accession:DOID:0111113 term browser browse the term
Definition:A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the INVS gene on chromosome 9q31. (DO)
Synonyms:exact_synonym: NPH2;   NPHP2;   Nephronophthisis, Infantile;   infantile nephronophthisis 2
 primary_id: MESH:C566582;   RDO:0014897
 alt_id: OMIM:602088
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nephronophthisis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Erp44 endoplasmic reticulum protein 44 JBrowse link 5 63,937,866 64,030,827 RGD:8554872
G Invs inversin JBrowse link 5 64,031,131 64,180,830 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
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  disease 15625
    disease of anatomical entity 14954
      Urogenital Diseases 3964
        urinary system disease 2039
          kidney disease 1826
            cystic kidney disease 182
              nephronophthisis 37
                nephronophthisis 2 2
Path 2
Term Annotations click to browse term
  disease 15625
    Developmental Diseases 8759
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7543
        genetic disease 7038
          monogenic disease 4656
            autosomal genetic disease 3617
              autosomal recessive disease 2056
                nephronophthisis 37
                  nephronophthisis 2 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.