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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;   TRIM8-RELATED CONDITION
 primary_id: OMIM:619428


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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 | ClinVar Annotator: match by term: TRIM8-related condition OMIM
ClinVar		 PMID:25741868 PMID:27346735 PMID:28492532 PMID:29758562 PMID:30244534 More... NCBI chr 1:245,369,632...245,384,513
Ensembl chr 1:245,369,632...245,384,513 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Neurodevelopmental Disorders 6832
        Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      Urogenital Diseases 5216
        urinary system disease 2823
          kidney disease 2579
            nephritis 484
              glomerulonephritis 424
                glomerulosclerosis 186
                  focal segmental glomerulosclerosis 149
                    Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome 1
paths to the root