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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 1
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Accession:DOID:0111128 term browser browse the term
Definition:A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of ACTN4 on chromosome 19q13.2. (DO)
Synonyms:exact_synonym: FSGS1;   focal sclerosis with hyalinosis
 related_synonym: segmental glomerulosclerosis
 primary_id: MESH:C538457
 alt_id: OMIM:603278
For additional species annotation, visit the Alliance of Genome Resources.


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focal segmental glomerulosclerosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme treatment IMP RGD PMID:8505110 RGD:12880006 NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Actn4 actinin alpha 4 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 OMIM
ClinVar
PMID:10700177 PMID:16251236 PMID:22351778 PMID:25741868 PMID:26467025 More... NCBI chr 1:84,182,783...84,251,867
Ensembl chr 1:84,182,788...84,251,847
JBrowse link
G Arhgap24 Rho GTPase activating protein 24 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 ClinVar NCBI chr14:6,800,631...7,184,001
Ensembl chr14:6,800,631...7,183,823
JBrowse link
G Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 1 ClinVar NCBI chr 7:53,353,740...53,398,345
Ensembl chr 7:53,353,743...53,398,370
JBrowse link
G Slc17a5 solute carrier family 17 member 5 ISO ClinVar Annotator: match by term: Focal sclerosis with hyalinosis ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:79,394,416...79,429,387 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Pathological Conditions, Signs and Symptoms 10235
      Pathologic Processes 6699
        Fibrosis 1457
          renal fibrosis 192
            glomerulosclerosis 149
              focal segmental glomerulosclerosis 111
                focal segmental glomerulosclerosis 1 5
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      Urogenital Diseases 4356
        urinary system disease 2143
          kidney disease 1923
            nephritis 445
              glomerulonephritis 390
                glomerulosclerosis 149
                  focal segmental glomerulosclerosis 111
                    focal segmental glomerulosclerosis 1 5
paths to the root