Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria

Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria(来自ICD-11)

别称:

Metaphyseal Chondromatosis with D-2-Hydroxyglutaric Aciduria

Metaphyseal Enchondrodysplasia with 2-Hydroxyglutaric Aciduria

Spondyloenchondromatosis with D-2-Hydroxyglutaric Aciduria

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria, also known as metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria, is related to leukemia, acute myeloid and organic acidemia. An important gene associated with Metaphyseal Enchondromatosis with D-2-Hydroxyglutaric Aciduria is IDH1 (Isocitrate Dehydrogenase (NADP(+)) 1). Affiliated tissues include bone and globus pallidus, and related phenotypes are d-2-hydroxyglutaric aciduria and multiple enchondromatosis

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