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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 9
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Accession:DOID:0111134 term browser browse the term
Definition:A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of CRB2 on chromosome 9q33.3. (DO)
Synonyms:exact_synonym: FSGS9
 primary_id: OMIM:616220
 alt_id: RDO:9001359
For additional species annotation, visit the Alliance of Genome Resources.


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focal segmental glomerulosclerosis 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crb2 crumbs cell polarity complex component 2 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 9 ClinVar
OMIM
PMID:25557779, PMID:28492532, PMID:32581362 NCBI chr 3:22,037,812...22,061,247
Ensembl chr 3:22,038,357...22,058,871
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Pathological Conditions, Signs and Symptoms 8726
      Pathologic Processes 6130
        Inflammation 2163
          nephritis 423
            glomerulonephritis 373
              focal segmental glomerulosclerosis 104
                focal segmental glomerulosclerosis 9 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Urogenital Diseases 4145
        urinary system disease 2069
          kidney disease 1857
            nephritis 423
              glomerulonephritis 373
                glomerulosclerosis 132
                  focal segmental glomerulosclerosis 104
                    focal segmental glomerulosclerosis 9 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.