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MIRAGE
nephrotic syndrome type 13
Summary
- Definition
- A familial nephrotic syndrome characterized by early onset of steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis that has_material_basis_in homozygous mutation in the NUP205 gene on chromosome 7q33.
- Super Class
- autosomal recessive disease familial nephrotic syndrome
External Links
- Disease Ontology
- DOID:0080381
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q92621 | Nuclear pore complex protein Nup205 |
- 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 |
