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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: OMIM:616002



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focal segmental glomerulosclerosis 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax2 paired box 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 7 OMIM
ClinVar
PMID:3377002 PMID:8589702 PMID:9106533 PMID:10466411 PMID:10533062 More... NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21147
    Pathological Conditions, Signs and Symptoms 13288
      Pathologic Processes 7956
        Fibrosis 1594
          renal fibrosis 235
            glomerulosclerosis 185
              focal segmental glomerulosclerosis 147
                focal segmental glomerulosclerosis 7 1
Path 2
Term Annotations click to browse term
  disease 21147
    disease of anatomical entity 18195
      Urogenital Diseases 5185
        urinary system disease 2799
          kidney disease 2555
            nephritis 484
              glomerulonephritis 423
                glomerulosclerosis 185
                  focal segmental glomerulosclerosis 147
                    focal segmental glomerulosclerosis 7 1
paths to the root