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nephrotic syndrome type 9
Summary
- Definition
- A familial nephrotic syndrome characterized by steroid-resistant proteinuria, hypoalbuminemia and edema with onset in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the COQ8B gene on chromosome 19q13.
- Super Class
- autosomal recessive disease familial nephrotic syndrome
External Links
- Disease Ontology
- DOID:0080391
- Mondo Disease Ontology
- OMIM
- 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 |
