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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-like Nephropathy 2
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Accession:DOID:9006423 term browser browse the term
Definition:An autosomal recessive cystic kidney disease characterized by onset of progressive renal insufficiency in the first decades of life. Caused by homozygous mutation in the SLC41A1 gene on chromosome 1q32. (OMIM)
Synonyms:exact_synonym: NPHPL2
 primary_id: MIM:619468


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Nephronophthisis-like Nephropathy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc41a1 solute carrier family 41 member 1 ISO ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 2 OMIM
ClinVar		 PMID:23661805 PMID:25741868 PMID:28492532 NCBI chr13:43,270,792...43,291,162
Ensembl chr13:43,270,792...43,291,162 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      Urogenital Diseases 5375
        urinary system disease 2831
          kidney disease 2579
            cystic kidney disease 520
              nephronophthisis 117
                Nephronophthisis-like Nephropathy 2 1
Path 2
Term Annotations click to browse term
  disease 19099
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13610
        genetic disease 13271
          monogenic disease 10820
            autosomal genetic disease 10300
              autosomal recessive disease 6942
                nephronophthisis 117
                  Nephronophthisis-like Nephropathy 2 1
paths to the root