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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 12
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Accession:DOID:0080387 term browser browse the term
Definition:A familial nephrotic syndrome characterized by early childhood onset of steroid-resistant progressive renal failure with focal segmental glomerulosclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the NUP93 gene on chromosome 16q13. (DO)
Synonyms:exact_synonym: NPHS12;   NUP93-RELATED CONDITION
 primary_id: MIM:616892


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nephrotic syndrome type 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Nephrotic syndrome, type 12 ClinVar PMID:25741868 NCBI chr 3:161,639,915...161,716,938
Ensembl chr 3:161,516,462...161,716,788 		JBrowse link
G Nup93 nucleoporin 93 ISO ClinVar Annotator: match by term: NUP93-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 12 OMIM
ClinVar		 PMID:25741868 PMID:26878725 PMID:28492532 PMID:29127259 PMID:33532864 NCBI chr19:10,684,214...10,788,009
Ensembl chr19:10,682,075...10,788,026 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11270
      nephrotic syndrome 173
        familial nephrotic syndrome 53
          nephrotic syndrome type 12 2
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      Urogenital Diseases 5375
        urinary system disease 2831
          kidney disease 2579
            proteinuria 587
              nephrosis 291
                nephrotic syndrome 173
                  familial nephrotic syndrome 53
                    nephrotic syndrome type 12 2
paths to the root