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Diseases

Genetic and Rare Diseases Information Center (GARD)

Search for Rare or Genetic Diseases


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.
Is Rare Condition? Disease Name
* 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 and xanthine aldehyde oxidase dual deficiency - See Xanthinuria type 2
* Xanthine dehydrogenase deficiency - See Xanthinuria type 1
* Xanthine oxidase deficiency - See Xanthinuria type 1
* Xanthine oxidoreductase deficiency - See Xanthinuria type 1
* Xanthinuria type 1
* Xanthinuria type 2
* Xanthinuria type I - See Xanthinuria type 1
* Xanthinuria type II - See Xanthinuria type 2
* Xanthism - See Rufous oculocutaneous albinism
* Xanthogranulomatous cholecystitis
* Xanthogranulomatous sialadenitis
* Xanthomatosis with sisterolemia - See Sitosterolemia
* Xanthous oculocutaneous albinism - See Oculocutaneous albinism type 3
* 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 neurologic manifestation - See De Sanctis-Cacchione syndrome
* 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
* XHIGM - See Immunodeficiency with hyper IgM type 1
* 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
* XLAG syndrome - See X-linked lissencephaly with abnormal genitalia
* XLAS - See Hydrocephalus due to congenital stenosis of aqueduct of sylvius
* XLCNM - See X-linked myotubular myopathy
* XLDPP - See Erythropoietic protoporphyria
* XLH - See Hypophosphatemic rickets
* XLI - See X-linked ichthyosis
* X-linked achromatopsia incomplete - See Blue cone monochromatism
* X-linked acqueductal stenosis - See Hydrocephalus due to congenital stenosis of aqueduct of sylvius
* 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 ALD - See Adrenoleukodystrophy X-linked
* X-linked Alport syndrome - See Alport syndrome
* X-linked anencephaly/spina bifida - See Anencephaly and spina bifida X-linked
* X-linked Angelman-like syndrome - See Christianson syndrome
* X-linked anhidrotic ectodermal dysplasia - See X-linked hypohidrotic ectodermal dysplasia
* X-linked ataxia-deafness syndrome - See Spinocerebellar ataxia X-linked type 3
* X-linked ataxia-dementia syndrome - See Spinocerebellar ataxia X-linked type 4
* X-linked autoimmunity-allergic dysregulation syndrome - See Immunodysregulation, polyendocrinopathy and enteropathy X-linked
* X-linked branchial arch syndrome - See Branchial arch syndrome X-linked
* X-linked bulbospinal amyotrophy - See Kennedy disease
* X-linked cardioskeletal myopathy and neutropenia - See Barth syndrome
* X-linked centronuclear myopathy - See X-linked myotubular myopathy
* X-linked cerebral adrenoleukodystrophy - See Childhood-onset cerebral X-linked adrenoleukodystrophy
* X-linked Charcot-Marie-Tooth disease
* X-linked Charcot-Marie-Tooth disease type 1
* X-linked Charcot-Marie-Tooth disease type 2
* X-linked Charcot-Marie-Tooth disease type 3
* X-linked Charcot-Marie-Tooth disease type 4
* X-linked Charcot-Marie-Tooth disease type 5
* X-linked Charcot-Marie-Tooth disease type 6
* X-linked chondrodysplasia punctata type 2 - See Chondrodysplasia punctata 2 X-linked dominant
* X-linked cleft palate - See Cleft palate X-linked
* X-linked complicated corpus callosum dysgenesis - See L1 syndrome
* X-linked complicated spastic paraplegia type 1 - See L1 syndrome
* X-linked congenital adrenal hypoplasia - See X-linked adrenal hypoplasia congenita
* X-linked congenital generalized hypertrichosis - See Hypertrichosis congenital generalized X-linked
* X-linked congenital stationary night blindness
* X-linked copper deficiency - See Menkes disease
* 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 cutis laxa - See Occipital horn syndrome
* X-linked deafness type 2 - See Deafness, X-linked 2
* X-linked distal arthrogryposis multiplex congenita - See Arthrogryposis multiplex congenita, distal, X-linked
* X-linked dominant chondrodysplasia punctata - See Chondrodysplasia punctata 2 X-linked dominant
* 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 dysplasia gigantism syndrome - See Simpson-Golabi-Behmel syndrome
* X-linked dystonia-parkinsonism - See Dystonia 3, torsion, X-linked
* X-Linked Dystonia-Parkinsonism syndrome - See Dystonia 3, torsion, X-linked
* X-linked Ehlers-Danlos syndrome - See Ehlers-Danlos syndrome type 5
* X-linked Emery-Dreifuss muscular dystrophy - See Emery-Dreifuss muscular dystrophy, 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 HSAS - See Hydrocephalus due to congenital stenosis of aqueduct of sylvius
* X-linked hydrocephalus - See Hydrocephalus due to congenital stenosis of aqueduct of sylvius
* X-linked hydrocephalus with stenosis of aqueduct of Sylvius - See Hydrocephalus due to congenital stenosis of aqueduct of sylvius
* X-linked hyper IgM syndrome - See Immunodeficiency with hyper IgM type 1
* 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 hypophosphatemia - See Hypophosphatemic rickets
* X-linked hypophosphatemic rickets - See Hypophosphatemic rickets
* X-linked ichthyosis
* X-linked IGHD - See Isolated growth hormone deficiency type 3
* X-linked immunoneurologic disorder - See Woods Black Norbury syndrome
* X-linked immunoneurological disorder - See Woods Black Norbury syndrome
* X-linked incomplete achromatopsia - See Blue cone monochromatism
* X-linked infantile spasm syndrome - See West syndrome
* X-linked infantile spasms - See West syndrome
* X-linked infantile spinal muscular atrophy - See Arthrogryposis multiplex congenita, distal, X-linked
* X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis
* X-linked intellectual disability - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy - See Christianson syndrome
* X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures - See Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures
* X-linked intellectual disability - dystonia - dysarthria - See Partington syndrome
* X-linked intellectual disability - epileptic seizures - hypogenitalism - microcephaly - obesity - See Intellectual disability, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity
* X-linked intellectual disability - hypotonia - See Allan-Herndon-Dudley syndrome
* X-linked intellectual disability - monoamine oxidase A metabolism anomaly - See Mental retardation X-linked borderline Maoa metabolism anomaly
* X-linked intellectual disability - plagiocephaly - See Hyde Forster Mccarthy Berry syndrome
* X-linked intellectual disability - psychosis - macroorchidism - See PPM-X syndrome
* X-linked intellectual disability - short stature - obesity - See X-linked intellectual disability - short stature – obesity
* X-linked intellectual disability - short stature – obesity
* X-linked intellectual disability due to PQBP1 mutations - See Renpenning syndrome 1
* X-linked intellectual disability with marfanoid habitus - See Lujan Fryns syndrome
* X-linked intellectual disability, Ahmad type - See Mental retardation X-linked syndromic 7
* X-linked intellectual disability, Atkin type - See Atkin syndrome
* X-linked intellectual disability, Brooks type - See Brooks Wisniewski Brown syndrome
* X-linked intellectual disability, Renpenning type - See Renpenning syndrome 1
* X-linked intellectual disability, Siderius type - See Siderius X-linked mental retardation syndrome
* X-linked intellectual disability, Snyder type - See Snyder-Robinson syndrome
* X-linked intellectual disability, South African type - See Christianson syndrome
* X-linked intellectual disability, Wittwer type - See Wittwer syndrome
* X-linked isolated growth hormone deficiency - See Isolated growth hormone deficiency type 3
* X-linked juvenile retinoschisis - See Juvenile retinoschisis
* X-linked lethal multiple pterygium syndrome - See Multiple pterygium syndrome X-linked
* X-linked lissencephaly - See Lissencephaly X-linked
* X-linked lissencephaly - agenesis of the corpus callosum - genital anomalies - See X-linked lissencephaly with abnormal genitalia
* X-linked lissencephaly type 1 - See Subcortical band heterotopia
* X-linked lissencephaly with abnormal genitalia
* X-linked lissencephaly with abnormal genitalia
* X-linked lissencephaly with ambiguous genitalia - See X-linked lissencephaly with abnormal genitalia
* X-linked lymphoproliferative disease - See X-linked lymphoproliferative syndrome 1
* 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 mandibulofacial dysostosis - See Branchial arch syndrome X-linked
* X-linked mandibulofacial dysostosis with limb anomalies - See Branchial arch syndrome X-linked
* X-linked McLeod syndrome - See McLeod neuroacanthocytosis syndrome
* X-linked MEHMO syndrome - See Intellectual disability, 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 marfanoid habitus - See Lujan Fryns 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 mixed conductive and neurosensory deafness - See Deafness, X-linked 2
* X-linked mixed conductive and neurosensory hearing loss - See Deafness, X-linked 2
* X-linked mixed conductive and sensorineural deafness - See Deafness, X-linked 2
* X-linked mixed conductive and sensorineural hearing loss - See Deafness, X-linked 2
* X-linked mixed deafness with perilymphatic gusher - See Deafness, X-linked 2
* X-linked myopathy with excessive autophagy
* X-linked myotubular myopathy
* X-linked ocular albinism - See Ocular albinism type 1
* X-linked Opitz BBB/G syndrome - See 22q11.2 deletion syndrome
* X-linked Opitz G/BBB syndrome - See 22q11.2 deletion syndrome
* X-linked Opitz syndrome - See 22q11.2 deletion syndrome
* 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 intellectual disability - macrocephaly - ciliary dysfunction - See Hypochromic microcytic anemia with iron overload
* 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 spastic paraplegia type 16 - See Spastic paraplegia 16
* X-linked spastic paraplegia type 2 - See Spastic paraplegia 2
* X-linked spinal and bulbar muscular atrophy - See Kennedy disease
* X-linked spinal muscular atrophy type 2 - See Arthrogryposis multiplex congenita, distal, X-linked
* X-linked spinocerebellar ataxia type 3 - See Spinocerebellar ataxia X-linked type 3
* X-linked spinocerebellar ataxia type 4 - See Spinocerebellar ataxia X-linked type 4
* X-linked spondyloepimetaphyseal dysplasia - See Spondyloepimetaphyseal dysplasia X-linked
* X-linked spondyloepiphyseal dysplasia - See Spondyloepiphyseal dysplasia tarda X-linked
* X-linked spondylometaphyseal dysplasia - See Spondylometaphyseal dysplasia X-linked
* X-linked stapes gusher syndrome - See Deafness, X-linked 2
* 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
* XLISG - See X-linked lissencephaly with abnormal genitalia
* XLMR hypotonic face syndrome - See Alpha-thalassemia x-linked intellectual disability syndrome
* XLMR syndrome, Lubs type - See Lubs X-linked mental retardation syndrome
* XLMR with marfanoid habitus - See Lujan Fryns syndrome
* XLMTM - See X-linked myotubular myopathy
* XLN - See Severe congenital neutropenia X-linked
* XLOA - See Ocular albinism type 1
* XLOS - See 22q11.2 deletion syndrome
* XLP - See X-linked lymphoproliferative syndrome
* XLP - See X-linked lymphoproliferative syndrome 1
* XLP1 - See X-linked lymphoproliferative syndrome 1
* XLP2 - See X-linked lymphoproliferative syndrome 2
* XLPD - See X-linked lymphoproliferative syndrome
* XLRS - See Juvenile retinoschisis
* 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
* XO deficiency - See Xanthinuria type 1
* XOR deficiency - See Xanthinuria type 1
* 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 gonodal dysgenesis - deafness - See Gonadal dysgenesis, XX type
* XX male syndrome - See 46,XX testicular disorder of sex development
* XX sex reversal - See 46,XX testicular disorder of sex development
* XX, male syndrome - 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