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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 9
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Accession:DOID:0111134 term browser browse the term
Definition:A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of CRB2 on chromosome 9q33.3. (DO)
Synonyms:exact_synonym: FSGS9
 primary_id: OMIM:616220
For additional species annotation, visit the Alliance of Genome Resources.



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focal segmental glomerulosclerosis 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crb2 crumbs cell polarity complex component 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 9 OMIM
ClinVar
PMID:25557779 PMID:25741868 PMID:27004616 PMID:28492532 PMID:32581362 More... NCBI chr 3:21,542,138...21,564,876
Ensembl chr 3:21,542,221...21,563,294
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18246
    Pathological Conditions, Signs and Symptoms 11380
      Pathologic Processes 7837
        Fibrosis 1515
          renal fibrosis 215
            glomerulosclerosis 170
              focal segmental glomerulosclerosis 132
                focal segmental glomerulosclerosis 9 1
Path 2
Term Annotations click to browse term
  disease 18246
    disease of anatomical entity 17610
      Urogenital Diseases 4753
        urinary system disease 2414
          kidney disease 2182
            nephritis 468
              glomerulonephritis 408
                glomerulosclerosis 170
                  focal segmental glomerulosclerosis 132
                    focal segmental glomerulosclerosis 9 1
paths to the root