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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:Salcedo Syndrome
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Accession:DOID:9006677 term browser browse the term
Synonyms:exact_synonym: FSGS10;   focal segmental glomerulosclerosis 10;   glomerular basement membrane disease, nail-patella syndrome type;   nail patella like renal disease
 primary_id: MESH:C537228
 alt_id: OMIM:256020
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Salcedo Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmx1b LIM homeobox transcription factor 1 beta ISO ClinVar Annotator: match by term: Focal Segmental Glomerulosclerosis 10 OMIM
ClinVar
PMID:23687361 PMID:24042019 PMID:25741868 PMID:26560070 PMID:28059119 More... NCBI chr 3:16,862,195...16,940,899
Ensembl chr 3:16,862,195...16,940,899
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    syndrome 8148
      Alport syndrome 18
        Salcedo Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      Urogenital Diseases 4376
        urinary system disease 2148
          kidney disease 1929
            Glomerular Diseases 396
              glomerulonephritis 389
                glomerulosclerosis 149
                  focal segmental glomerulosclerosis 111
                    Salcedo Syndrome 1
paths to the root