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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:nephrotic syndrome type 5
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Accession:DOID:0080380 term browser browse the term
Definition:A familial nephrotic syndrome characterized by prenatal or neonatal onset of progressive renal failure with proteinurea and edema that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p. (DO)
Synonyms:exact_synonym: Diffuse Renal Mesangial Sclerosis, with Ocular Abnormalities;   NPHS5;   nephrotic syndrome type 5, with or without ocular abnormalities
 primary_id: OMIM:614199
 alt_id: DOID:9007459;   MESH:C565405


show annotations for term's descendants           Sort by:
nephrotic syndrome type 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2206901 PMID:7885444 PMID:9536098 PMID:14136829 PMID:15367484 More... NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549 		JBrowse link
G Ppp2r5d protein phosphatase 2, regulatory subunit B', delta ISO ClinVar Annotator: match by term: Mesangial sclerosis, diffuse renal, with ocular abnormalities ClinVar PMID:25741868 PMID:30676711 PMID:32295525 NCBI chr 9:14,270,364...14,300,396
Ensembl chr 9:14,268,745...14,300,400 		JBrowse link
G Serpina10 serpin family A member 10 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities ClinVar PMID:15461625 PMID:18710385 PMID:22039093 PMID:23352160 PMID:25741868 NCBI chr 6:122,756,106...122,764,544
Ensembl chr 6:122,756,108...122,764,544 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13343
      Pathologic Processes 7990
        Sclerosis 13
          nephrotic syndrome type 5 3
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Urogenital Diseases 5233
        urinary system disease 2830
          Urination Disorders 633
            proteinuria 586
              nephrosis 290
                nephrotic syndrome 172
                  familial nephrotic syndrome 52
                    Congenital Nephrotic Syndrome with or without Ocular Abnormalities 4
                      nephrotic syndrome type 5 3
paths to the root