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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, beta 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mesangial sclerosis, diffuse renal, with ocular abnormalities | ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities
OMIM
CTD
ClinVar
PMID:2206901 PMID:7885444 PMID:9536098 PMID:14136829 PMID:15367484 More... NCBI chr 9:108,357,080...108,367,729
Ensembl chr 9:108,356,935...108,367,729
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 chr17:46,993,917...47,015,952
Ensembl chr17:46,993,917...47,016,037
JBrowse link
G Serpina10 serine (or cysteine) peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), 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 chr12:103,582,934...103,597,681
Ensembl chr12:103,581,045...103,597,703
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18296
    Pathological Conditions, Signs and Symptoms 12329
      Pathologic Processes 7687
        Sclerosis 14
          nephrotic syndrome type 5 3
Path 2
Term Annotations click to browse term
  disease 18296
    disease of anatomical entity 15613
      Urogenital Diseases 4868
        urinary system disease 2476
          Urination Disorders 428
            proteinuria 391
              nephrosis 292
                nephrotic syndrome 174
                  familial nephrotic syndrome 52
                    Congenital Nephrotic Syndrome with or without Ocular Abnormalities 4
                      nephrotic syndrome type 5 3
paths to the root