lysosomal disorder, from deficiency of ability to phosphorylate mannose, causing an incorrect targeting of potential lysosomal enzymes to extracellular sites instead of lysosomes, characterized by skeletal abnromalities, restricted joint movement, coarse facial features, severe pscyhomotor impairment, death by 8 y.o.
juvenile megaloblastic anemia, an autosomal recessive condition where there's a mutation in cubulin, the receptor that binds IF-B12 complex; also associated with proteinuria
left axillary adenopathy associated with metastatic disease, e.g. gastric CA
neuromyotonia; continuous muscle stiffness, rippling muscle movements (myokymia), delayed relaxation following muscle contraction believed to be due to autoantibodies to presynaptic potassium channels
pseudoisochromatic plates (plates with color dots for numbers) for testing color vision
vitamin A fat-storage cells, of mesenchymal origin found in the space of Disse; during development of cirrhosis, they become activated, transform into fibroblast-like cells
Note: Eponyms Database Author: Andrew J. Yee, M.D. (website: eponyms.net)
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