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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:focal segmental glomerulosclerosis 7
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Accession:DOID:0111132 term browser browse the term
Definition:A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the PAX2 gene on chromosome 10q24.31. (DO)
Synonyms:exact_synonym: FSGS7
 broad_synonym: PAX2-RELATED CONDITION
 primary_id: MIM:616002
 xref: NCI:C202604


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    Pathological Conditions, Signs and Symptoms 13625
      Pathologic Processes 8329
        Fibrosis 1598
          renal fibrosis 242
            glomerulosclerosis 192
              focal segmental glomerulosclerosis 155
                focal segmental glomerulosclerosis 7 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      Urogenital Diseases 5402
        urinary system disease 2836
          kidney disease 2582
            nephritis 496
              glomerulonephritis 433
                glomerulosclerosis 192
                  focal segmental glomerulosclerosis 155
                    focal segmental glomerulosclerosis 7 1
paths to the root