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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: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
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
ClinVar Annotator: match by term: Nephrotic syndrome type 14
ClinVar
OMIM
PMID:23232022 PMID:24777844 PMID:25741868 PMID:28165339 PMID:28165343 PMID:28181337 PMID:32860008 NCBI chr20:30,699,936...30,769,178
Ensembl chr20:30,699,872...30,749,940
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      nephrotic syndrome 119
        familial nephrotic syndrome 44
          nephrotic syndrome type 14 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      Urogenital Diseases 4146
        urinary system disease 2074
          kidney disease 1860
            proteinuria 508
              nephrosis 239
                nephrotic syndrome 119
                  familial nephrotic syndrome 44
                    nephrotic syndrome type 14 1
paths to the root