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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:Congenital Nephrotic Syndrome with or without Ocular Abnormalities
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Accession:DOID:9001617 term browser browse the term
Synonyms:primary_id: MESH:C563805
 alt_id: RDO:0012970
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Congenital Nephrotic Syndrome with or without Ocular Abnormalities term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp1 matrix metallopeptidase 1 ISO protein:decreased activity:kidney (mouse) RGD PMID:11014984 RGD:7207147 NCBI chr 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
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
ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by OMIM:614199
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 16103
    syndrome 6989
      nephrotic syndrome 115
        familial nephrotic syndrome 40
          Congenital Nephrotic Syndrome with or without Ocular Abnormalities 2
            nephrotic syndrome type 5 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      Urogenital Diseases 4142
        urinary system disease 2069
          Urination Disorders 543
            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

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