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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease hartnup disease
Comorbidity C0029124|optic atrophy
Sentences 1
PubMedID- 25258575 Charcot-marie-tooth disease (cmt) 2a with optic atrophy is referred to as hereditary motor and sensory neuropathy type vi (hmsn vi) and is caused by mitofusin 2 gene (mfn2) mutation.

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