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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 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
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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 6:127,500,014...127,508,470
Ensembl chr 6:127,500,016...127,508,452
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      nephrotic syndrome 119
        familial nephrotic syndrome 44
          nephrotic syndrome type 5 2
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      Urogenital Diseases 4146
        urinary system disease 2074
          kidney disease 1860
            proteinuria 508
              nephrosis 239
                nephrotic syndrome 119
                  familial nephrotic syndrome 44
                    Congenital Nephrotic Syndrome with or without Ocular Abnormalities 3
                      nephrotic syndrome type 5 2
paths to the root