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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 CD2AP CD2 associated protein ISO OMIM NCBI chr 7:42,218,016...42,332,523
Ensembl chr 7:42,217,588...42,332,518
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13633
    Developmental Disease 10231
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8840
        genetic disease 8391
          monogenic disease 6815
            autosomal genetic disease 6032
              focal segmental glomerulosclerosis 3 1
Path 2
Term Annotations click to browse term
  disease 13633
    disease of anatomical entity 13301
      Urogenital Diseases 3841
        urinary system disease 1709
          kidney disease 1502
            nephritis 345
              glomerulonephritis 300
                glomerulosclerosis 94
                  focal segmental glomerulosclerosis 81
                    focal segmental glomerulosclerosis 3 1
paths to the root