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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:Diffuse Mesangial Sclerosis
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Accession:DOID:9008897 term browser browse the term
Synonyms:exact_synonym: Diffuse isolated mesangial sclerosis;   Familial mesangial sclerosis;   Nephrotic syndrome, early onset with diffuse mesangial sclerosis
 primary_id: MESH:C537346


show annotations for term's descendants           Sort by:
Diffuse Mesangial Sclerosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Diffuse mesangial sclerosis ClinVar PMID:25514610 PMID:25741868 PMID:28492532 PMID:28632965 NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876 		JBrowse link
G Lamb2 laminin subunit beta 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diffuse mesangial sclerosis		 CTD
ClinVar		 PMID:15367484 PMID:25741868 PMID:28492532 NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549 		JBrowse link
G Plce1 phospholipase C, epsilon 1 ISO DNA:mutations: : RGD PMID:18065803 RGD:7257520 NCBI chr 1:236,243,445...236,552,571
Ensembl chr 1:236,244,683...236,551,438 		JBrowse link
G Wt1 WT1 transcription factor ISO ClinVar Annotator: match by term: Nephrotic syndrome, early onset with diffuse mesangial sclerosis ClinVar PMID:1302008 PMID:1327525 PMID:1338906 PMID:1655284 PMID:1658787 More... NCBI chr 3:91,566,540...91,613,653
Ensembl chr 3:91,567,001...91,613,643 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11271
      nephrotic syndrome 173
        Diffuse Mesangial Sclerosis 4
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      Urogenital Diseases 5375
        urinary system disease 2831
          Urination Disorders 635
            proteinuria 587
              nephrosis 291
                nephrotic syndrome 173
                  Diffuse Mesangial Sclerosis 4
paths to the root