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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 14
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Accession:DOID:0080265 term browser browse the term
Definition:A familial nephrotic syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the sphingosine-1-phosphate lyase 1 (SGPL1) gene on chromosome 10q21. (DO)
Synonyms:exact_synonym: NPHS14;   SPLIS;   nephrotic syndrome 14;   sphingosine phosphate lyase insufficiency syndrome
 primary_id: OMIM:617575
For additional species annotation, visit the Alliance of Genome Resources.



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nephrotic syndrome type 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sgpl1 sphingosine-1-phosphate lyase 1 ISO ClinVar Annotator: match by term: Nephrotic syndrome 14 OMIM
ClinVar
PMID:23232022 PMID:24777844 PMID:25741868 PMID:28165339 PMID:28165343 More... NCBI chr20:29,047,793...29,094,209
Ensembl chr20:29,047,796...29,094,084
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    syndrome 9705
      nephrotic syndrome 165
        familial nephrotic syndrome 48
          nephrotic syndrome type 14 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      Urogenital Diseases 4703
        urinary system disease 2393
          kidney disease 2163
            proteinuria 567
              nephrosis 283
                nephrotic syndrome 165
                  familial nephrotic syndrome 48
                    nephrotic syndrome type 14 1
paths to the root