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Human Disease

nephrotic syndrome type 23

Term ID
DOID:0112266
Synonyms
  • NPHS23
Definition
A familial nephrotic syndrome characterized by onset of proteinuria in the first or second decade of life, mesangial hypercellularity, focal segmental glomerulosclerosis, and effacement of podocyte foot processes that has_material_basis_in homozygous or compound heterozygous mutation in the KIRREL1 gene on chromosome 1q23.1. https://pubmed.ncbi.nlm.nih.gov/31472902/
References
Ontology
Human Disease   ( DOID:0112266 )
Relationships
is a type of
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Genes Involved
Zebrafish Models