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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 2
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Accession:DOID:0111129 term browser browse the term
Definition:A focal segmental glomerulosclerosis that has_material_basis_in a mutation of TRPC6 on chromosome 11q22.1. (DO)
Synonyms:exact_synonym: FSGS2
 primary_id: MESH:C565831
 alt_id: OMIM:603965
For additional species annotation, visit the Alliance of Genome Resources.


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focal segmental glomerulosclerosis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 ISO ClinVar Annotator: match by OMIM:603965
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 2
OMIM
ClinVar
PMID:2298509 PMID:10200986 PMID:15879175 PMID:15924139 PMID:19129465 More... NCBI chr 8:5,759,387...5,864,000
Ensembl chr 8:5,758,935...5,828,092
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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 2 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 2 1
paths to the root