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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 the CRB2 gene on chromosome 9q33.3. (DO)
Synonyms:exact_synonym: FSGS9
 broad_synonym: CRB2-RELATED CONDITION
 primary_id: OMIM:616220
 xref: MONDO:0014539


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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:27942854 PMID:28492532 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 18976
    Pathological Conditions, Signs and Symptoms 13376
      Pathologic Processes 7988
        Fibrosis 1605
          renal fibrosis 237
            glomerulosclerosis 187
              focal segmental glomerulosclerosis 150
                focal segmental glomerulosclerosis 9 1
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      Urogenital Diseases 5234
        urinary system disease 2831
          kidney disease 2586
            nephritis 487
              glomerulonephritis 427
                glomerulosclerosis 187
                  focal segmental glomerulosclerosis 150
                    focal segmental glomerulosclerosis 9 1
paths to the root