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nephrotic syndrome type 23
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease familial nephrotic syndrome
External Links
- Disease Ontology
- DOID:0112266
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0011947 | Respiratory tract infection |
| HP:0000969 | Edema |
| HP:0012622 | Chronic kidney disease |
| HP:0001967 | Diffuse mesangial sclerosis |
| HP:0000707 | Abnormality of the nervous system |
| HP:0003073 | Hypoalbuminemia |
