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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 and Neurodevelopmental Syndrome
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Accession:DOID:9001434 term browser browse the term
Definition:Characterized by global developmental delay and renal dysfunction manifest as proteinuria and nephrotic syndrome apparent from infancy or early childhood. Caused by heterozygous mutation in the TRIM8 gene on chromosome 10q24. (OMIM)
Synonyms:exact_synonym: FSGSNEDS
 primary_id: OMIM:619428
For additional species annotation, visit the Alliance of Genome Resources.



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Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trim8 tripartite motif-containing 8 ISO ClinVar Annotator: match by term: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME OMIM
ClinVar
PMID:25741868 PMID:30244534 PMID:32193649 PMID:32531461 PMID:33508234 NCBI chr 1:245,369,632...245,384,513
Ensembl chr 1:245,369,632...245,384,513
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Neurodevelopmental Disorders 5718
        Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Urogenital Diseases 4386
        urinary system disease 2155
          kidney disease 1936
            nephritis 447
              glomerulonephritis 391
                glomerulosclerosis 151
                  focal segmental glomerulosclerosis 113
                    Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome 1
paths to the root