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focal segmental glomerulosclerosis 3
Summary
- Synonym
-
- FSGS3
- Definition
- A focal segmental glomerulosclerosis that has_material_basis_in loss of function mutation in the CD2AP gene on chromosome 6p12.3.
- Super Class
- autosomal genetic disease focal segmental glomerulosclerosis
External Links
- Disease Ontology
- DOID:0112245
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
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 |
