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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 PAX2 on chromosome 10q24.31. (DO)
Synonyms:exact_synonym: FSGS7
 primary_id: OMIM:616002
 alt_id: RDO:9001357
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar
OMIM
PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 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 17205
    Pathological Conditions, Signs and Symptoms 10235
      Pathologic Processes 6699
        Fibrosis 1457
          renal fibrosis 192
            glomerulosclerosis 149
              focal segmental glomerulosclerosis 111
                focal segmental glomerulosclerosis 7 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      Urogenital Diseases 4356
        urinary system disease 2143
          kidney disease 1923
            nephritis 445
              glomerulonephritis 390
                glomerulosclerosis 149
                  focal segmental glomerulosclerosis 111
                    focal segmental glomerulosclerosis 7 1
paths to the root