1. Syndrome: is a constelation of sings and symptoms that share similar patophysiology and can be caused by different etiologies
2. Disease: A disease is any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person. Sometimes the term is used broadly to include injuries, disabilities, syndromes, symptoms, deviant behaviors, and atypical variations of structure and function, while in other contexts these may be considered distinguishable categories

That syndrome is Alports syndome: X-linked mutations in the gene encoding what is called the basement membrane specific type IV collagen

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Dr. Mier
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