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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease alport syndrome
Symptom C0022658|renal disease
Sentences 3
PubMedID- 22306733 The mice deficient in alpha 3 chain of type iv collagen chain (col4a3ko mice) mimic renal disease associated with alport syndrome.
PubMedID- 23165304 To this day, alport syndrome still inevitably leads to end-stage renal disease and the need for renal replacement therapy, starting in young adulthood.
PubMedID- 22166847 alport syndrome inevitably leads to end-stage renal disease and there are no therapies known to improve outcome.

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