OBO ID: DOID:0112268 |
Term Name: | nephrotic syndrome type 22 | Search Ontology: | |
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Definition: | A familial nephrotic syndrome characterized by onset of progressive kidney dysfunction in infancy, edema, hypoproteinemia, proteinuria, microscopic hematuria, effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane that has_material_basis_in homozygous or compound heterozygous mutation in the NOS1AP gene on chromosome 1q23.3. https://pubmed.ncbi.nlm.nih.gov/33523862/ | ||
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Ontology: | Human Disease ( DOID:0112268 ) |
OTHER nephrotic syndrome type 22 PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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