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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 11
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Accession:DOID:0080385 term browser browse the term
Definition:Autosomal recessive disorder of the kidney with onset in the first decade of life. The disorder is progressive and usually results in end-stage renal disease necessitating renal transplantation, although some patients may have a slightly milder phenotype. NPHS11 is caused by homozygous or compound heterozygous mutation in the NUP107 gene on chromosome 12q15. (OMIM)
Synonyms:exact_synonym: NPHS11
 primary_id: OMIM:616730
 alt_id: RDO:9000770
For additional species annotation, visit the Alliance of Genome Resources.


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nephrotic syndrome type 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nup107 nucleoporin 107 ISO ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 11
ClinVar Annotator: match by term: Nephrotic syndrome, type 11
ClinVar
OMIM
PMID:25741868, PMID:26411495, PMID:30179222 NCBI chr 7:60,781,724...60,825,225
Ensembl chr 7:60,781,729...60,825,242
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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 11 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
                    nephrotic syndrome type 11 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.