List of diseases (X)

Last updated September 25, 2025

This is a list of diseases starting with the letter "X".

X

X, disease
X chromosome, duplication Xq13 1 q21 1
X chromosome, monosomy Xp22 pter
X chromosome, monosomy Xq28
X chromosome, trisomy Xp3
X chromosome, trisomy Xpter Xq13
X chromosome, trisomy Xq
X chromosome, trisomy Xq25
X fragile site folic acid type

Xa–Xk

Xanthic urolithiasis
Xanthine oxydase deficiency
Xanthinuria
Xanthomatosis cerebrotendinous
Xerocytosis, hereditary
Xeroderma
Xeroderma pigmentosum
Xeroderma talipes enamel defects
Xerophthalmia
Xerostomia
Xk aprosencephaly

Xl

X-linked adrenal hypoplasia congenita
X-linked adrenoleukodystrophy
X-linked agammaglobulinemia
X-linked alpha thalassemia mental retardation syndrome (ATR-X)
X-linked dominance
X-linked ichthyosis
X-linked juvenile retinoschisis
X-linked lymphoproliferative syndrome
X-linked mental retardation

X-linked mental retardation and macroorchidism
X-linked mental retardation associated with marXq2
X-linked mental retardation Brooks type
X-linked mental retardation craniofacial abnormal microcephaly club
X-linked mental retardation De silva type
X-linked mental retardation Hamel type
X-linked mental retardation type Gustavson
X-linked mental retardation type Martinez
X-linked mental retardation type Raynaud
X-linked mental retardation type Schutz
X-linked mental retardation type Snyder
X-linked mental retardation type Wittner

Xx–Xy

XX male syndrome
XY Female
XY gonadal agenesis syndrome
XYY syndrome
XXXX syndrome
XXXXX syndrome

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List of diseases (X)

Contents

X

Xa–Xk

Xl

Xx–Xy