Additional Disease Briefs

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metachromatic leukodystrophy, juvenile form

Also known as: ARSA deficiency, MLD, MLD, juvenile form, Mld, arylsulfatase A deficiency, arylsulfatase A deficiency, juvenile form, cerebral sclerosis diffuse metachromatic form, cerebral sclerosis, diffuse, metachromatic form, cerebroside sulfatase deficiency, leukodystrophy metachromatic, metachromatic leukodystrophy, metachromatic leukodystrophy, adult, metachromatic leukodystrophy, juvenile, metachromatic leukodystrophy, juvenile form, metachromatic leukodystrophy, late infantile, metachromatic leukoencephalopathy, pseudoarylsulfatase A deficiency, sulfatide lipidosis




metaphyseal acroscyphodysplasia

Also known as: Bellini Chiumello Rimoldi syndrome, Bellini syndrome, cupped metaphyses and cone-Shaped epiphyses of knees with brachydactyly, intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome, metaphyseal acroscyphodysplasia, wedge-Shaped epiphyses of knees, wedge-shaped epiphyses of knees, wedge-shaped epiphyses of the knees with intellectual disability and short stature, wedge-shaped epiphyses of the knees with mental retardation and short stature


metaphyseal anadysplasia 2

Also known as: MANDP2, MMP9 metaphyseal anadysplasia, metaphyseal anadysplasia 2, metaphyseal anadysplasia caused by mutation in MMP9, metaphyseal anadysplasia type 2