Additional Disease Briefs

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Rare Disease Database Reports Additional Rare Disease Briefs
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

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

xeroderma pigmentosum group B

Also known as: ERCC3 xeroderma pigmentosum, XP group B, XP, Group B, XP-B, XPB, XPB/CS, XPBC, xeroderma pigmentosum B/Cockayne syndrome, xeroderma pigmentosum caused by mutation in ERCC3, xeroderma pigmentosum group B, xeroderma pigmentosum group type B, xeroderma pigmentosum, complementation group B, xeroderma pigmentosum, complementation group type B, xeroderma pigmentosum, group B, xeroderma pigmentosum, type 2

xeroderma pigmentosum group C

Also known as: XP group C, XP, Group C, XP-C, XP3, XPC, XPCC, xeroderma pigmentosum 3, xeroderma pigmentosum III, xeroderma pigmentosum group C, xeroderma pigmentosum group type C, xeroderma pigmentosum, complementation group C, xeroderma pigmentosum, complementation group type C, xeroderma pigmentosum, group C, xeroderma pigmentosum, type 3

xeroderma pigmentosum group D

Also known as: ERCC2 xeroderma pigmentosum, XP group D, XP group H, XP, Group D, XP, Group H, XP, Group H, formerly, XP-D, XP4, XP4 xeroderma pigmentosum VIII, XP4 xeroderma pigmentosum VIII, formerly, XP8, XPD, XPDC, XPH, xeroderma pigmentosum 4, xeroderma pigmentosum IV, xeroderma pigmentosum VIII, xeroderma pigmentosum caused by mutation in ERCC2, xeroderma pigmentosum group D, xeroderma pigmentosum group type D, xeroderma pigmentosum, complementation group D, xeroderma pigmentosum, complementation group type D, xeroderma pigmentosum, group D

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