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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 6
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Accession:DOID:0111131 term browser browse the term
Definition:A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of MYO1E on chromosome 15q22.2. (DO)
Synonyms:exact_synonym: FSGS6
 primary_id: OMIM:614131
 alt_id: RDO:9000310
For additional species annotation, visit the Alliance of Genome Resources.


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focal segmental glomerulosclerosis 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo1e myosin IE ISO ClinVar Annotator: match by OMIM:614131
ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6
OMIM
ClinVar
PMID:21756023 NCBI chr 8:76,644,715...76,840,240
Ensembl chr 8:76,754,492...76,839,593
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Pathological Conditions, Signs and Symptoms 8739
      Pathologic Processes 6124
        Inflammation 2164
          nephritis 421
            glomerulonephritis 371
              focal segmental glomerulosclerosis 102
                focal segmental glomerulosclerosis 6 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Urogenital Diseases 4146
        urinary system disease 2069
          kidney disease 1857
            nephritis 421
              glomerulonephritis 371
                glomerulosclerosis 131
                  focal segmental glomerulosclerosis 102
                    focal segmental glomerulosclerosis 6 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.