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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 3
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Accession:DOID:0112245 term browser browse the term
Definition:A focal segmental glomerulosclerosis that has_material_basis_in loss of function mutation in CD2AP on chromosome 6p12.3. (DO)
Synonyms:exact_synonym: FSGS3
 related_synonym: focal segmental glomerulosclerosis 3, susceptibility to
 primary_id: OMIM:607832
 alt_id: DOID:9000237
For additional species annotation, visit the Alliance of Genome Resources.


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focal segmental glomerulosclerosis 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101969432 CD2 associated protein ISO OMIM NCBI chrNW_004936476:12,890,595...12,989,046 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13024
    Developmental Disease 9865
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8591
        genetic disease 8150
          monogenic disease 6651
            autosomal genetic disease 5911
              focal segmental glomerulosclerosis 3 1
Path 2
Term Annotations click to browse term
  disease 13024
    disease of anatomical entity 12705
      Urogenital Diseases 3714
        urinary system disease 1633
          kidney disease 1439
            nephritis 330
              glomerulonephritis 287
                glomerulosclerosis 94
                  focal segmental glomerulosclerosis 80
                    focal segmental glomerulosclerosis 3 1
paths to the root