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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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20988
    Pathological Conditions, Signs and Symptoms 13308
      Pathologic Processes 8243
        Fibrosis 1545
          renal fibrosis 230
            glomerulosclerosis 185
              focal segmental glomerulosclerosis 147
                focal segmental glomerulosclerosis 9 1
Path 2
Term Annotations click to browse term
  disease 20988
    disease of anatomical entity 18178
      Urogenital Diseases 4893
        urinary system disease 2539
          kidney disease 2305
            nephritis 480
              glomerulonephritis 423
                glomerulosclerosis 185
                  focal segmental glomerulosclerosis 147
                    focal segmental glomerulosclerosis 9 1
paths to the root