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GENE - TERM ANNOTATION REPORT

RGD ID: 1560172
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Nphp4
Name: nephrocystin 4
Acc ID: DOID:0050576
Term: Senior-Loken syndrome
Definition: A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. (DO)
Definition Source(s): https://rarediseases.info.nih.gov/diseases/322/senior-loken-syndrome "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Nphp4 ISONPHP4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Renal dysplasia and retinal aplasiaPMID:25741868 PMID:28492532
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