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skos:definition |
JABL: An inborn error of methylcobalamin metabolism with a deficiency of the enzyme tetrahydrofolate-methyltransferase (E.C.2.1.1.13) causing megaloblastic anemia, moderate to severe developmental delay, lethargy, anorexia, and homocystinuria.,NCI: A rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly.
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umls:relation |
http://linkedlifedata.com/resource/umls/relation/R01045882,
http://linkedlifedata.com/resource/umls/relation/R01048444,
http://linkedlifedata.com/resource/umls/relation/R01048445,
http://linkedlifedata.com/resource/umls/relation/R128718392,
http://linkedlifedata.com/resource/umls/relation/R128718393,
http://linkedlifedata.com/resource/umls/relation/R129094926,
http://linkedlifedata.com/resource/umls/relation/R132823002,
http://linkedlifedata.com/resource/umls/relation/R132823003
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