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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 8
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Accession:DOID:0111133 term browser browse the term
Definition:A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of ANLN on chromosome 7p14.2. (DO)
Synonyms:exact_synonym: FSGS8
 primary_id: OMIM:616032
 alt_id: RDO:9001358
 xref: ICD10CM:N04.1
For additional species annotation, visit the Alliance of Genome Resources.



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focal segmental glomerulosclerosis 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anln anillin, actin binding protein ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 8 ClinVar
OMIM
PMID:24676636 PMID:25741868 PMID:28166811 PMID:28492532 NCBI chr 8:20,858,227...20,921,602
Ensembl chr 8:20,858,228...20,921,538
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17240
    Pathological Conditions, Signs and Symptoms 10254
      Pathologic Processes 6710
        Fibrosis 1458
          renal fibrosis 192
            glomerulosclerosis 149
              focal segmental glomerulosclerosis 111
                focal segmental glomerulosclerosis 8 1
Path 2
Term Annotations click to browse term
  disease 17240
    disease of anatomical entity 16581
      Urogenital Diseases 4360
        urinary system disease 2144
          kidney disease 1924
            nephritis 445
              glomerulonephritis 389
                glomerulosclerosis 149
                  focal segmental glomerulosclerosis 111
                    focal segmental glomerulosclerosis 8 1
paths to the root