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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;   RDO:0004417
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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 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        genetic disease 6457
          focal segmental glomerulosclerosis 1 3
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      Urogenital Diseases 3916
        urinary system disease 2007
          kidney disease 1799
            nephritis 412
              glomerulonephritis 360
                glomerulosclerosis 119
                  focal segmental glomerulosclerosis 105
                    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.