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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: NPHS5;   nephrotic syndrome type 5, with or without ocular abnormalities
 primary_id: OMIM:614199
 alt_id: RDO:9000607
For additional species annotation, visit the Alliance of Genome Resources.



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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 OMIM
ClinVar
PMID:2206901 PMID:7885444 PMID:14136829 PMID:15367484 PMID:16097004 More... NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549
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 18032
    syndrome 9456
      nephrotic syndrome 165
        familial nephrotic syndrome 48
          nephrotic syndrome type 5 2
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      Urogenital Diseases 4683
        urinary system disease 2383
          kidney disease 2156
            proteinuria 568
              nephrosis 283
                nephrotic syndrome 165
                  familial nephrotic syndrome 48
                    Congenital Nephrotic Syndrome with or without Ocular Abnormalities 3
                      nephrotic syndrome type 5 2
paths to the root