Alport syndrome (Q54857)
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Alport syndrome is an inherited disease characterised by glomerular nephropathy with haematuria, progressing to end-stage renal disease, associated with sensorineural deafness and eye affection such as lenticonus or retinopathia. It involves a structural defect of type IV collagen, which is a normal component of the glomeral basal membrane.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1170919425 |
||
| English | Alport syndrome |
Alport syndrome is an inherited disease characterised by glomerular nephropathy with haematuria, progressing to end-stage renal disease, associated with sensorineural deafness and eye affection such as lenticonus or retinopathia. It involves a structural defect of type IV collagen, which is a normal component of the glomeral basal membrane. |
Statements
CID11:ID_1170919425
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