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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease cone rod dystrophy
Comorbidity C0018784|sensorineural hearing loss
Sentences 2
PubMedID- 24049434 Patients develop progressive cone rod dystrophy leading to blindness, sensorineural hearing loss (snhl), early onset truncal obesity, hyperinsulinemia and insulin resistance, type 2 diabetes mellitus, hypertriglyceridemia, short stature in adulthood, dilated cardiomyopathy, recurrent pulmonary infections, hypogonadism, and hepatic and renal dysfunction.
PubMedID- 21804060 Background: usher syndrome (ush) is a group of autosomal recessive diseases characterized by the association of retinitis pigmentosa with sensorineural hearing loss.

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