Additional Disease Briefs

X-linked sideroblastic anemia with ataxia

Also known as: ASAT, Pagon Bird Detter syndrome, Pagon-Bird-Detter syndrome, X-linked sideroblastic Anaemia and ataxia, X-linked sideroblastic Anemia and ataxia, X-linked sideroblastic anaemia and ataxia, X-linked sideroblastic anaemia and spinocerebellar ataxia, X-linked sideroblastic anaemia with spinocerebellar ataxia, X-linked sideroblastic anemia and ataxia, X-linked sideroblastic anemia and spinocerebellar ataxia, X-linked sideroblastic anemia with ataxia, X-linked sideroblastic anemia with spinocerebellar ataxia, XLSA-A, Xlsa-A, anaemia sideroblastic and spinocerebellar ataxia, anemia sideroblastic and spinocerebellar ataxia, anemia, Sex-linked hypochromic Siderobla, anemia, sideroblastic, and spinocerebellar ataxia, anemia, sideroblastic, with ataxia, X-linked recessive, sideroblastic anaemia with spinocerebellar ataxia, sideroblastic anemia with spinocerebellar ataxia

X-linked spasticity-intellectual disability-epilepsy syndrome

X-linked spinocerebellar ataxia type 3

Also known as: SCAX3, Scax3, X-linked ataxia-deafness syndrome, ataxia-deafness syndrome X-linked, ataxia-deafness syndrome, X-linked, spinocerebellar ataxia X-linked type 3, spinocerebellar ataxia, X-linked 3, spinocerebellar ataxia, X-linked type 3

X-linked spinocerebellar ataxia type 4

Also known as: SCAX4, Scax4, X-linked ataxia-dementia syndrome, ataxia-dementia syndrome X-linked, ataxia-dementia syndrome, X-linked, spinocerebellar ataxia X-linked type 4, spinocerebellar ataxia, X-linked 4, spinocerebellar ataxia, X-linked type 4

X-linked spondyloepimetaphyseal dysplasia

Also known as: SEMD X-linked, SEMD, X-linked, SEMDX, spondylo-epimetaphyseal dysplasia, spondyloepimetaphyseal dysplasia X-linked, spondyloepimetaphyseal dysplasia, X-linked, spondyloepimetaphyseal dysplasia, X-linked, X-linked recessive

xanthinuria type I

Also known as: XAN1, XDH deficiency, XO deficiency, XOR deficiency, hereditary xanthinuria, type I, isolated xanthine oxidase deficiency, type 1 xanthinuria, xanthine dehydrogenase deficiency, xanthine oxidase deficiency, xanthine oxidoreductase deficiency, xanthinuria type 1, xanthinuria type I, xanthinuria, type 1, xanthinuria, type I

xanthinuria type II

Also known as: XAN2, XDH and AOX dual deficiency, type 2 xanthinuria, type II xanthinuria, xanthine dehydrogenase and aldehyde oxidase combined deficiency of, xanthine dehydrogenase and aldehyde oxidase, combined deficiency of, xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency, xanthinuria type 2, xanthinuria, type 2, xanthinuria, type II

xanthoma disseminatum

Also known as: Montgomery syndrome

xeroderma pigmentosum group A

Also known as: XP group A, XP, group A, XP-A, XP1, XPA, XPA xeroderma pigmentosum, xeroderma pigmentosum 1, xeroderma pigmentosum caused by mutation in XPA, xeroderma pigmentosum complementation group A, xeroderma pigmentosum group A, xeroderma pigmentosum group type A, xeroderma pigmentosum, complementation group A, xeroderma pigmentosum, complementation group type a, xeroderma pigmentosum, group A, xeroderma pigmentosum, type 1