Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program [X]

Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

• 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 X-linked adrenoleukodystrophy
• 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
• Xanthoma disseminatum
• 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 X-linked dystonia-parkinsonism/Lubag
• Xerocytosis hereditary - See Dehydrated hereditary stomatocytosis
• Xeroderma pigmentosa - See Xeroderma pigmentosum
• Xeroderma pigmentosum
• Xeroderma pigmentosum with normal DNA repair rates - See Xeroderma pigmentosum, variant type
• Xeroderma pigmentosum, variant type
• Xerodermic idiocy - See De Sanctis-Cacchione syndrome
• Xerophthalmia - See Keratoconjunctivitis sicca - not a rare disease
• Xerotic Keratitis - See Keratomalacia
• XFE progeroid syndrome
• XGPT deficiency - See Spondylodysplastic Ehlers-Danlos syndrome
• XHED - See X-linked hypohidrotic ectodermal dysplasia
• XHIM - See Immunodeficiency with hyper IgM type 1
• Xia-Gibbs syndrome
• 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 (X-linked lissencephaly with abnormal genitalia) syndrome - See X-linked lissencephaly with abnormal genitalia
• 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
• XLH - See X-linked hypophosphatemia
• X-linked achromatopsia incomplete - See Blue cone monochromatism
• X-linked adrenal hypoplasia congenita
• X-linked adrenoleukodystrophy
• X-linked agammaglobulinemia
• X-linked AHC - See X-linked adrenal hypoplasia congenita
• X-linked alpha-thalassemia/intellectual disability syndrome - See Alpha-thalassemia x-linked intellectual disability syndrome
• X-linked anencephaly/spina bifida - See Anencephaly and spina bifida X-linked
• X-linked Angelman-like syndrome - See Christianson syndrome
• X-linked auditory neuropathy with peripheral sensory neuropathy type 1 - Another name for X-linked hereditary sensory and autonomic neuropathy with deafness
• 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 cerebral adrenoleukodystrophy - See Childhood-onset cerebral X-linked adrenoleukodystrophy
• X-linked Charcot-Marie-Tooth disease
• X-linked Charcot-Marie-Tooth disease type 1 - See Charcot-Marie-Tooth disease
• X-linked Charcot-Marie-Tooth disease type 2 - See Charcot-Marie-Tooth disease
• X-linked Charcot-Marie-Tooth disease type 3 - See Charcot-Marie-Tooth disease
• X-linked Charcot-Marie-Tooth disease type 4 - See Charcot-Marie-Tooth disease
• X-linked Charcot-Marie-Tooth disease type 5 - See Charcot-Marie-Tooth disease
• X-linked Charcot-Marie-Tooth disease type 6 - See Charcot-Marie-Tooth disease
• X-linked cleft palate - See Cleft palate X-linked
• X-linked complicated corpus callosum agenesis - See L1 syndrome
• 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
• 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 chondrodysplasia punctata 2
• X-linked dominant infantile spasm syndrome-2 - See CDKL5 deficiency disorder
• X-linked dominant scapuloperoneal myopathy
• X-linked Dyskeratosis congenita - See Dyskeratosis congenita X-linked
• X-Linked Dystonia-Parkinsonism syndrome - See X-linked dystonia-parkinsonism/Lubag
• X-linked dystonia-parkinsonism/Lubag
• X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females - See X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
• X-linked fatal ataxia with deafness and loss of vision - See Arts syndrome
• X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
• X-linked form of fetal akinesia syndrome - See Fetal akinesia syndrome X-linked
• X-linked hereditary motor and sensory neuropathy - See X-linked Charcot-Marie-Tooth disease
• X-linked hereditary sensory and autonomic neuropathy with deafness
• X-linked HSAN with deafness - Another name for X-linked hereditary sensory and autonomic neuropathy with deafness
• X-linked hyper IgM syndrome - See Immunodeficiency with hyper IgM type 1
• X-linked hypodontia - See Hypodontia, X-linked
• X-linked hypogonadism gynecomastia intellectual disability - See Juberg Marsidi syndrome
• X-linked hypohidrotic ectodermal dysplasia
• X-linked hypophosphatemia
• X-linked hypophosphatemic rickets - See X-linked hypophosphatemia
• X-linked ichthyosis
• X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
• 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 Intellectual Deficit with Cerebellar Hypoplasia - See OPHN1 syndrome
• 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 - gynecomastia - obesity - See Wilson-Turner syndrome
• X-linked intellectual disability - microcephaly - pontocerebellar hypoplasia - See X-linked intellectual disability, Najm type
• X-linked intellectual disability - seizures - psoriasis - See Tranebjaerg Svejgaard syndrome
• X-linked intellectual disability - short stature – obesity
• X-linked intellectual disability 1 - See IQSEC2
• X-linked intellectual disability 1/78 - See IQSEC2
• X-linked intellectual disability 78 - See IQSEC2
• X-linked intellectual disability with hypotonia - See Allan-Herndon-Dudley syndrome
• X-linked intellectual disability with or without nystagmus
• X-linked intellectual disability, Abidi type
• X-linked intellectual disability, Cabezas type - See Cabezas syndrome
• X-linked intellectual disability, Najm type
• X-linked intellectual disability, Schimke type
• X-linked intellectual disability, Siderius type
• X-linked intellectual disability, South African type - See Christianson syndrome
• X-linked intellectual disability, Stocco Dos Santos type - See Stocco dos Santos syndrome
• X-linked intellectual disability, Turner type
• X-linked intellectual disability-cerebellar hypoplasia syndrome - See OPHN1 syndrome
• X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome - See X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis
• X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome - See Christianson syndrome
• X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome - See Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures
• X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
• X-linked intellectual disability-gynecomastia-obesity syndrome - See Wilson-Turner syndrome
• X-linked intellectual disability-hypotonic facies syndrome 1 - See Juberg Marsidi syndrome
• X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome - See X-linked intellectual disability, Najm type
• X-linked intellectual disability-plagiocephaly syndrome
• X-linked intellectual disability-seizures-psoriasis syndrome - See Tranebjaerg Svejgaard syndrome
• X-linked juvenile retinoschisis - See Juvenile retinoschisis
• 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 with abnormal genitalia
• X-linked lissencephaly with ambiguous genitalia - See X-linked lissencephaly with abnormal genitalia
• X-linked lissencephaly-agenesis of the corpus callosum-genital anomalies syndrome - See X-linked lissencephaly with abnormal genitalia
• X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome - See X-linked lissencephaly with abnormal genitalia
• 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 - See X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
• 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 mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency - See NF-kappa B Essential Modulator Deficiency
• X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency - See NF-kappa B Essential Modulator Deficiency
• X-linked mental handicap-retinitis pigmentosa syndrome - See Aldred syndrome
• X-linked mental retardation and macroorchidism - See Fragile X syndrome
• 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 Hamel type - See X-linked intellectual disability, Siderius type
• X-linked mental retardation Snyder-Robinson type - See Snyder-Robinson syndrome
• X-linked mental retardation syndromic 3 - See Renpenning syndrome 1
• 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 MSMD due to IKBKG deficiency - See NF-kappa B Essential Modulator Deficiency
• X-linked myopathy with excessive autophagy
• X-linked myotubular myopathy
• X-linked non-specific intellectual disability
• X-linked non-syndromic intellectual disability - See X-linked non-specific intellectual disability
• X-linked ocular albinism - See Ocular albinism type 1
• X-linked partial agenesis of corpus callosum - See L1 syndrome
• X-linked partial corpus callosum agenesis - See L1 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 Early-onset parkinsonism-intellectual disability syndrome
• X-linked recessive cone dystrophy with tapetal-like sheen - See Cone dystrophy X-linked with tapetal-like sheen
• X-linked recessive hypercalciuric hypophosphatemic rickets - See Dent disease
• X-linked recessive nephrolithiasis - See Dent disease
• 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 sideroblastic anemia and ataxia - See Anemia sideroblastic and spinocerebellar ataxia
• X-linked sideroblastic anemia and spinocerebellar ataxia - See Anemia sideroblastic and spinocerebellar ataxia
• X-linked sideroblastic anemia with ataxia - See Anemia sideroblastic and spinocerebellar ataxia
• X-linked spinal and bulbar muscular atrophy - See Kennedy disease
• X-linked spondyloepiphyseal dysplasia - See Spondyloepiphyseal dysplasia tarda X-linked
• X-linked susceptibility to autism-4
• X-linked thrombocytopenia
• X-linked thrombocytopenia with normal platelets - See X-linked thrombocytopenia
• X-Linked Torsion Dystonia-Parkinsonism syndrome - See X-linked dystonia-parkinsonism/Lubag
• 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 MECP2 duplication 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
• XLSA-A - See Anemia sideroblastic and spinocerebellar ataxia
• XLT - See X-linked thrombocytopenia
• XMEA - See X-linked myopathy with excessive autophagy
• XMEN - See X-linked immunodeficiency with magnesium defect, 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
• Xp22.3 microdeletion syndrome
• Xp22.3 microdeletion syndrome - See Xp22.3 microdeletion syndrome
• XPF-ERCC1 progeroid syndrome - See XFE progeroid syndrome
• 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 - not a rare disease
• XXY trisomy - See Klinefelter syndrome - not a rare disease
• XXYY syndrome - See 48,XXYY syndrome
• XY female - See 46, XY disorders of sexual development
• Xylitol dehydrogenase deficiency - See Pentosuria
• Xylosylprotein 4-beta-galactosyltransferase deficiency - See Spondylodysplastic Ehlers-Danlos syndrome
• XYY Karyotype - See 47, XYY syndrome
• XYY syndrome - See 47, XYY syndrome