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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
 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:11093271 PMID:11241473 More... NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    Pathological Conditions, Signs and Symptoms 13262
      Pathologic Processes 7934
        Fibrosis 1581
          renal fibrosis 234
            glomerulosclerosis 184
              focal segmental glomerulosclerosis 146
                focal segmental glomerulosclerosis 7 1
Path 2
Term Annotations click to browse term
  disease 21122
    disease of anatomical entity 18162
      Urogenital Diseases 5137
        urinary system disease 2766
          kidney disease 2540
            nephritis 484
              glomerulonephritis 422
                glomerulosclerosis 184
                  focal segmental glomerulosclerosis 146
                    focal segmental glomerulosclerosis 7 1
paths to the root