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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


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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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      nephrotic syndrome 172
        familial nephrotic syndrome 52
          nephrotic syndrome type 14 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Urogenital Diseases 5218
        urinary system disease 2825
          kidney disease 2581
            proteinuria 586
              nephrosis 290
                nephrotic syndrome 172
                  familial nephrotic syndrome 52
                    nephrotic syndrome type 14 1
paths to the root