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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease hypertriglyceridemia
Comorbidity C0878544|cardiomyopathy
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PubMedID- 24690487 Among these, alström syndrome (alms; omim #203800) is an autosomal recessive multi-systemic disorder characterized by cone rod-dystrophy resulting in blindness in early childhood, progressive hearing impairment, infantile or adolescent onset dilated cardiomyopathy, metabolic defects leading to hyperinsulinemia, hypertriglyceridaemia, type-2-diabetes mellitus, and obesity[3], and progressive pulmonary, hepatic and renal dysfunction[4].

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