Amyotrophic lateral sclerosis motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.
Xeroderma pigmentosum autosomal recessive disease that is characterized by a deficiency in the ability to repair ultraviolet damage that has material basis in autosomal recessive inheritance of DNA repair
Porphyria An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of porphyrins.
Hypertrophic cardiomyopathy disease in which a portion of the myocardium (heart muscle) is hypertrophic (enlarged) without any obvious cause, creating functional impairment of the heart.
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