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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease hyperthermia
Comorbidity C1417508|mevalonic aciduria
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PubMedID- 24470648 Mevalonate kinase deficiency (mkd) is a rare autosomal recessive disorder causing 1 of 2 phenotypes, hyperimmunoglobulin d syndrome and mevalonic aciduria, presenting with recurrent fever episodes, often starting in infancy, and sometimes evoked by stress or vaccinations.

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