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nephrotic syndrome type 14 - Ontology Report - Rat Genome Database

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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;   SGPL1-RELATED CONDITION;   SPLIS;   nephrotic syndrome 14;   sphingosine phosphate lyase insufficiency syndrome
 primary_id: MIM: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 | ClinVar Annotator: match by term: SGPL1-related condition OMIM
ClinVar		 PMID:23232022 PMID:24777844 PMID:25741868 PMID:28165339 PMID:28165343 More... NCBI chrNW_004936521:7,850,370...7,899,998
Ensembl chrNW_004936521:7,848,972...7,900,041 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14638
    syndrome 10016
      nephrotic syndrome 169
        familial nephrotic syndrome 49
          nephrotic syndrome type 14 1
Path 2
Term Annotations click to browse term
  disease 14638
    disease of anatomical entity 14327
      Urogenital Diseases 4671
        urinary system disease 2282
          kidney disease 2058
            proteinuria 363
              nephrosis 278
                nephrotic syndrome 169
                  familial nephrotic syndrome 49
                    nephrotic syndrome type 14 1
paths to the root