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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.



show annotations for term's descendants           Sort by:
 
focal segmental glomerulosclerosis 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD2AP CD2 associated protein IAGP ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 3, susceptibility to OMIM
ClinVar
PMID:10514378 PMID:17713465 PMID:22971997 PMID:24033266 PMID:25741868 More... NCBI chr 6:47,477,746...47,627,263
Ensembl chr 6:47,477,789...47,627,263
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20297
    Developmental Disease 13818
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11329
        genetic disease 10789
          monogenic disease 8689
            autosomal genetic disease 7601
              focal segmental glomerulosclerosis 3 1
Path 2
Term Annotations click to browse term
  disease 20297
    disease of anatomical entity 18901
      Urogenital Diseases 4873
        urinary system disease 1959
          kidney disease 1737
            nephritis 380
              glomerulonephritis 331
                glomerulosclerosis 103
                  focal segmental glomerulosclerosis 89
                    focal segmental glomerulosclerosis 3 1
paths to the root