Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Search for Rare or Genetic Diseases


Enfermedades en español

Diseases Beginning With X

The purpose of the Rare Diseases and Related Terms list is to distribute information; although the list is updated regularly, it should not be used as a reference or guarantee that a condition is rare. The prevalence of a rare disease is usually an estimate and may change over time. A rare (or orphan) disease is generally considered to have a prevalence of fewer than 200,000 affected individuals in the United States.

* This symbol indicates that a condition is not rare but is one for which a question has been answered by the GARD Information Center.

* X chromosome, monosomy Xq28 - See Chromosome Xq28 deletion syndrome
* X chromosome-linked sideroblastic anemia - See X-linked sideroblastic anemia
* X linked ichthyosis - See X-linked ichthyosis
* X linked spondyloepiphyseal dysplasia tarda - See Spondyloepiphyseal dysplasia tarda X-linked
* X-ALD - See Adrenoleukodystrophy X-linked
* Xanthine dehydrogenase and aldehyde oxidase combined deficiency of - See Xanthinuria type 2
* Xanthine dehydrogenase deficiency - See Xanthinuria type 1
* Xanthine oxidase deficiency - See Xanthinuria type 1
* Xanthinuria type 1
* Xanthinuria type 2
* Xanthism - See Rufous oculocutaneous albinism
* Xanthogranulomatous cholecystitis
* Xanthogranulomatous sialadenitis
* Xanthurenic aciduria - See Hydroxykynureninuria
* X-chromosome-linked achromatopsia - See Blue cone monochromatism
* XDH and AOX dual deficiency - See Xanthinuria type 2
* XDH deficiency - See Xanthinuria type 1
* XDP - See Dystonia 3, torsion, X-linked
* Xerocytosis hereditary - See Dehydrated hereditary stomatocytosis
* Xeroderma pigmentosa - See Xeroderma pigmentosum
* Xeroderma pigmentosum
* Xeroderma pigmentosum complementation group G - See Xeroderma pigmentosum type 7
* Xeroderma pigmentosum type 7
* Xeroderma pigmentosum VII - See Xeroderma pigmentosum type 7
* Xeroderma pigmentosum with normal DNA repair rates - See Xeroderma pigmentosum, variant type
* Xeroderma pigmentosum, complementation group 1 - See Xeroderma pigmentosum, type 9
* Xeroderma pigmentosum, type 1
* Xeroderma pigmentosum, type 2
* Xeroderma pigmentosum, type 3
* Xeroderma pigmentosum, type 5
* Xeroderma pigmentosum, type 6
* Xeroderma pigmentosum, type 9
* Xeroderma pigmentosum, variant type
* Xeroderma talipes enamel defects
* Xerodermic idiocy - See De Sanctis-Cacchione syndrome
*   Xerophthalmia - See Keratoconjunctivitis sicca
* Xerotic Keratitis - See Keratomalacia
* XFE progeroid syndrome
* XGPT deficiency - See Ehlers-Danlos syndrome progeroid type
* XHED - See X-linked hypohidrotic ectodermal dysplasia
* XHIM - See Immunodeficiency with hyper IgM type 1
* XIAP deficiency - See X-linked lymphoproliferative syndrome 2
* XIAP-related lymphoproliferative disease, X-linked - See X-linked lymphoproliferative syndrome 2
* XJR - See Juvenile retinoschisis
* XK aprosencephaly
* XK syndrome - See XK aprosencephaly
* XK-aprosencephaly syndrome - See XK aprosencephaly
* XLA - See X-linked agammaglobulinemia
* XLA2 - See Agammaglobulinemia X-linked type 2
* XLAAD - See Immunodysregulation, polyendocrinopathy and enteropathy X-linked
* XLAS - See Hydrocephalus due to congenital stenosis of aqueduct of sylvius
*   XLCNM - See X-linked myotubular myopathy
* XLH - See Hypophosphatemic rickets
* X-linked achromatopsia incomplete - See Blue cone monochromatism
* X-linked adrenal hypoplasia congenita
* X-linked adrenoleukodystrophy - See Adrenoleukodystrophy X-linked
* X-linked agammaglobulinemia
* X-linked AHC - See X-linked adrenal hypoplasia congenita
* X-linked anencephaly/spina bifida - See Anencephaly and spina bifida X-linked
* X-linked autoimmunity-allergic dysregulation syndrome - See Immunodysregulation, polyendocrinopathy and enteropathy X-linked
* X-linked bulbospinal amyotrophy - See Kennedy disease
*   X-linked centronuclear myopathy - See X-linked myotubular myopathy
* X-linked Charcot-Marie-Tooth disease type 5
* X-linked cleft palate - See Cleft palate X-linked
* X-linked congenital adrenal hypoplasia - See X-linked adrenal hypoplasia congenita
* X-linked congenital stationary night blindness
* X-linked creatine deficiency
* X-linked creatine deficiency syndrome - See X-linked creatine deficiency
* X-linked creatine transporter deficiency - See X-linked creatine deficiency
* X-linked CSNB - See X-linked congenital stationary night blindness
* X-linked dominant scapuloperoneal myopathy
* X-linked Dyskeratosis congenita - See Dyskeratosis congenita X-linked
* X-linked dysmorphic syndrome with mental retardation - See Prieto X-linked mental retardation syndrome
* X-Linked Dystonia-Parkinsonism syndrome - See Dystonia 3, torsion, X-linked
* X-linked fatal ataxia with deafness and loss of vision - See Arts syndrome
* X-linked form of fetal akinesia syndrome - See Fetal akinesia syndrome X-linked
* X-linked hyper IgM syndrome - See Immunodeficiency with hyper IgM type 1
* X-linked hypodontia - See Hypodontia, X-linked
* X-linked hypogonadism gynecomastia mental retardation - See Juberg Marsidi syndrome
* X-linked hypohidrotic ectodermal dysplasia
* X-linked ichthyosis
* X-linked immunoneurological disorder - See Woods Black Norbury syndrome
* X-linked infantile spasm syndrome - See West syndrome
* X-linked infantile spasms - See West syndrome
* X-linked juvenile retinoschisis - See Juvenile retinoschisis
* X-linked lissencephaly - See Lissencephaly X-linked
* X-linked lymphoproliferative disease - See X-linked lymphoproliferative syndrome
* X-linked lymphoproliferative syndrome
* X-linked lymphoproliferative syndrome 1
* X-linked lymphoproliferative syndrome 2
* X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia
* X-linked McLeod syndrome - See McLeod neuroacanthocytosis syndrome
* X-linked MEHMO syndrome - See Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
* X-linked mental handicap-retinitis pigmentosa syndrome - See Aldred syndrome
* X-linked mental retardation and macroorchidism - See Fragile X syndrome
* X-linked mental retardation and macro-orchidism
* X-linked mental retardation associated with fragile site FRAXE - See Fragile XE syndrome
* X-linked mental retardation associated with psoriasis - See Tranebjaerg Svejgaard syndrome
* X-linked mental retardation Brooks type - See Brooks Wisniewski Brown syndrome
* X-linked mental retardation craniofacial abnormal microcephaly club
* X-linked mental retardation De silva type
* X-linked mental retardation Gustavson type
* X-linked mental retardation Hamel type - See Siderius X-linked mental retardation syndrome
* X-linked mental retardation Snyder-Robinson type - See Snyder-Robinson syndrome
* X-linked mental retardation syndrome, Atkin type - See Atkin syndrome
* X-linked mental retardation syndrome, Wittwer tpe - See X-linked mental retardation type Wittwer
* X-linked mental retardation syndromic 3 - See Renpenning syndrome 1
* X-linked mental retardation type Martinez
* X-linked mental retardation type Raynaud
* X-linked mental retardation type Schutz
* X-linked mental retardation type Wittwer
* X-linked mental retardation with hypotonia - See Allan-Herndon-Dudley syndrome
* X-linked mental retardation with spastic diplegia - See Renpenning syndrome 1
* X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation - See Microcephaly microcornea syndrome Seemanova type
* X-linked myopathy with excessive autophagy
*   X-linked myotubular myopathy
* X-linked ocular albinism - See Ocular albinism type 1
* X-linked periventricular heterotopia
* X-linked progressive combined variable immunodeficiency 5 - See X-linked lymphoproliferative syndrome
* X-linked recessive basal ganglia disorder with mental retardation - See Parkinsonism, early onset with mental retardation
* X-linked recessive cone dystrophy with tapetal-like sheen - See Cone dystrophy X-linked with tapetal-like sheen
* X-linked recessive ocular albinism - See Ocular albinism type 1
* X-linked retinoschisis - See Juvenile retinoschisis
* X-linked SCID - See X-linked severe combined immunodeficiency
* X-linked severe combined immunodeficiency
* X-linked severe congenital neutropenia - See Severe congenital neutropenia X-linked
* X-linked sideroblastic anemia
* X-linked spinal and bulbar muscular atrophy - See Kennedy disease
* X-linked spondyloepiphyseal dysplasia - See Spondyloepiphyseal dysplasia tarda X-linked
* X-linked thrombocytopenia
* X-linked thrombocytopenia with normal platelets - See X-linked thrombocytopenia
* X-Linked Torsion Dystonia-Parkinsonism syndrome - See Dystonia 3, torsion, X-linked
* X-linked VACTERL-H syndrome - See VACTERL association with hydrocephaly, X-linked
* X-linked vacuolar cardiomyopathy and myopathy - See Danon disease
* X-linked visceral heterotaxy 1
* XLIS - See Lissencephaly X-linked
* XLMR hypotonic face syndrome - See Alpha-thalassemia x-linked intellectual disability syndrome
* XLMR syndrome, Lubs type - See Lubs X-linked mental retardation syndrome
*   XLMTM - See X-linked myotubular myopathy
* XLN - See Severe congenital neutropenia X-linked
* XLOA - See Ocular albinism type 1
* XLP - See X-linked lymphoproliferative syndrome
* XLP1 - See X-linked lymphoproliferative syndrome 1
* XLP2 - See X-linked lymphoproliferative syndrome 2
* XLPD - See X-linked lymphoproliferative syndrome
* XLSA - See X-linked sideroblastic anemia
* XLT - See X-linked thrombocytopenia
* XMEA - See X-linked myopathy with excessive autophagy
* XMEN - See X-linked magnesium deficiency with Epstein-Barr virus infection and neoplasia
* XMVD - See Cardiac valvular dysplasia, X-linked
* XP - See Xeroderma pigmentosum
* Xp deletion - See Chromosome Xp deletion
* Xp monosomy - See Chromosome Xp deletion
* Xp, group 1 - See Xeroderma pigmentosum, type 9
* XP1 - See Xeroderma pigmentosum, type 9
* XP7 - See Xeroderma pigmentosum type 7
* XP9 - See Xeroderma pigmentosum, type 9
* XPF-ERCC1 progeroid syndrome - See XFE progeroid syndrome
* XPG - See Xeroderma pigmentosum type 7
* XPID - See Immunodysregulation, polyendocrinopathy and enteropathy X-linked
* XPV - See Xeroderma pigmentosum, variant type
* Xq deletion - See Chromosome Xq deletion
* Xq duplication - See Chromosome Xq duplication
* Xq monosomy - See Chromosome Xq deletion
* Xq trisomy - See Chromosome Xq duplication
* Xq28 deletion syndrome - See Chromosome Xq28 deletion syndrome
* XSCID - See X-linked severe combined immunodeficiency
* X-SCID - See X-linked severe combined immunodeficiency
* XX male syndrome - See 46,XX testicular disorder of sex development
* XX sex reversal - See 46,XX testicular disorder of sex development
* XXX syndrome - See 47 XXX syndrome
* XXXXY syndrome - See 49,XXXXY syndrome
* XXXY syndrome - See 48,XXXY syndrome
* XXXYY syndrome - See 49,XXXYY syndrome
* XXY syndrome - See Klinefelter syndrome
*   XXY trisomy - See 47, XXY
* XXYY syndrome - See 48,XXYY syndrome
* XY female - See 46, XY disorders of sexual development
* XY gonadal dysgenesis syndrome - See Anorchia
* Xylitol dehydrogenase deficiency - See Pentosuria
* Xylosylprotein 4-beta-galactosyltransferase deficiency - See Ehlers-Danlos syndrome progeroid type
* XYY Karyotype - See 47, XYY syndrome
* XYY syndrome - See 47, XYY syndrome