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nephrotic syndrome type 18
Summary
- Definition
- A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP133 gene on chromosome 1q42.
- Super Class
- autosomal recessive disease familial nephrotic syndrome
External Links
- Disease Ontology
- DOID:0080393
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002027 | Abdominal pain |
| HP:0100539 | Periorbital edema |
| HP:0000737 | Irritability |
| HP:0003774 | Stage 5 chronic kidney disease |
| HP:0000097 | Focal segmental glomerulosclerosis |
| HP:0002586 | Peritonitis |
| HP:0012579 | Minimal change glomerulonephritis |
| HP:0001945 | Fever |
| HP:0000093 | Proteinuria |
| HP:0002315 | Headache |
