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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 9
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Accession:DOID:0080391 term browser browse the term
Definition:A familial nephrotic syndrome characterized by steroid-resistant proteinuria, hypoalbuminemia and edema with onset in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the COQ8B gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: NPHS9
 primary_id: OMIM:615573
For additional species annotation, visit the Alliance of Genome Resources.


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nephrotic syndrome type 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by OMIM:615573 OMIM
ClinVar
PMID:24270420 NCBI chr 1:84,043,487...84,067,066
Ensembl chr 1:84,044,551...84,067,066
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      nephrotic syndrome 115
        familial nephrotic syndrome 40
          nephrotic syndrome type 9 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      Urogenital Diseases 4142
        urinary system disease 2069
          kidney disease 1857
            proteinuria 504
              nephrosis 234
                nephrotic syndrome 115
                  familial nephrotic syndrome 40
                    nephrotic syndrome type 9 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.