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ONTOLOGY REPORT - ANNOTATIONS


Term:nephrotic syndrome type 14
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Accession:DOID:0080265 term browser browse the term
Definition:An autosomal recessive syndromic form of steroid-resistant nephrotic syndrome with multisystemic manifestations. Most affected individuals present in infancy or or early childhood with progressive renal dysfunction associated with focal segmental glomerulosclerosis (FSGS) and resulting in end-stage renal disease within a few years. Some patients present in utero with fetal hydrops and fetal demise. Additional features of the disorder can include ichthyosis, acanthosis, adrenal insufficiency, immunodeficiency, and neurologic defects. (OMIM)
Synonyms:exact_synonym: NPHS14;   nephrotic syndrome 14
 primary_id: OMIM:617575
 alt_id: RDO:9005181
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nephrotic syndrome type 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sgpl1 sphingosine-1-phosphate lyase 1 JBrowse link 20 30,699,936 30,769,178 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      nephrotic syndrome 109
        familial nephrotic syndrome 36
          nephrotic syndrome type 14 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      Urogenital Diseases 3965
        urinary system disease 2036
          kidney disease 1824
            proteinuria 519
              nephrosis 233
                nephrotic syndrome 109
                  familial nephrotic syndrome 36
                    nephrotic syndrome type 14 1
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