Additional Disease Briefs

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hereditary myopathy with lactic acidosis due to ISCU deficiency

Also known as: HML, ISCU myopathy, aconitase deficiency, iron-sulfur cluster deficiency myopathy, myoglobinuria due to abnormal glycolysis, myopathy with deficiency of succinate dehydrogenase and aconitase, myopathy with exercise intolerance, Swedish type, myopathy with lactic acidosis, hereditary


hereditary neuroendocrine tumor of small intestine

Also known as: hereditary neuroendocrine tumor of small bowel, hereditary neuroendocrine tumor of the small intestine, hereditary neuroendocrine tumour of small bowel, hereditary neuroendocrine tumour of the small intestine, hereditary small intestine neuroendocrine neoplasm


hereditary neuropathy with liability to pressure palsies

Also known as: HNPP, Tomaculous neuropathy, current pressure-sensitive neuropathy, familial recurrent polyneuropathy, hereditary liability to pressure palsies, hereditary neuropathy with liability to pressure palsies, hereditary neuropathy with liability to pressure palsy, heterozygous microdeletion 17p11.2p12, neuropathy, hereditary, with liability to pressure palsies, neuropathy, recurrent, with pressure palsies, polyneuropathy, familial recurrent, potato-grubbing palsy, tomaculous neuropathy, tulip-bulb digger's palsy