| Metadata | |
|---|---|
| ID | DOID:0112266 |
| Name | nephrotic syndrome type 23 |
| 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/ |
| Xrefs | |
| Synonyms |
NPHS23 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |