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ONTOLOGY REPORT - ANNOTATIONS


Term:focal segmental glomerulosclerosis 1
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Accession:DOID:0111128 term browser browse the term
Definition:A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of ACTN4 on chromosome 19q13.2. (DO)
Synonyms:exact_synonym: FSGS1;   focal sclerosis with hyalinosis
 related_synonym: segmental glomerulosclerosis
 primary_id: MESH:C538457
 alt_id: OMIM:603278
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focal segmental glomerulosclerosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ace angiotensin I converting enzyme JBrowse link 10 94,170,766 94,213,831 RGD:12880006
G Actn4 actinin alpha 4 JBrowse link 1 87,078,012 87,147,347 RGD:7240710
RGD:8554872
G Arhgap24 Rho GTPase activating protein 24 JBrowse link 14 8,383,211 8,600,526 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15984
    Pathological Conditions, Signs and Symptoms 8439
      Pathologic Processes 5945
        Fibrosis 1400
          renal fibrosis 170
            glomerulosclerosis 129
              focal segmental glomerulosclerosis 103
                focal segmental glomerulosclerosis 1 3
Path 2
Term Annotations click to browse term
  disease 15984
    disease of anatomical entity 15262
      Urogenital Diseases 4027
        urinary system disease 2025
          kidney disease 1810
            nephritis 422
              glomerulonephritis 372
                glomerulosclerosis 129
                  focal segmental glomerulosclerosis 103
                    focal segmental glomerulosclerosis 1 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.