Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


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 OMIM:614199
ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by term: Nephrotic syndrome, type 5, with or without ocular abnormalities
OMIM
ClinVar
PMID:7885444, PMID:14136829, PMID:16097004, PMID:16912710, PMID:18594871, PMID:19251977, PMID:20556798, PMID:21236492, PMID:21763483, PMID:23349334, PMID:23595123, PMID:25741868, PMID:26239645, PMID:26248470, PMID:26467025, PMID:26467726, PMID:27858192, PMID:28492532 NCBI chr 8:117,268,335...117,280,517
Ensembl chr 8:117,268,337...117,280,517
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      nephrotic syndrome 115
        familial nephrotic syndrome 40
          nephrotic syndrome type 5 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      Urogenital Diseases 4145
        urinary system disease 2069
          kidney disease 1857
            proteinuria 504
              nephrosis 234
                nephrotic syndrome 115
                  familial nephrotic syndrome 40
                    Congenital Nephrotic Syndrome with or without Ocular Abnormalities 2
                      nephrotic syndrome type 5 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.