Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program X/1 ENGLISH

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







X/1



Browse the GARD list of rare diseases and related terms to find topics of interest to you. This list includes the main name for each condition, as well as alternate names. Inclusion on this list does not serve as official recognition by the NIH that a disease is rare. Some conditions that are not considered rare are on this list and are labeled accordingly.Read more about which diseases are included on the GARD website.

• 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
• Xeroderma talipes enamel defects
• 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 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 - SeeChristianson 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 - SeeChristianson 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 craniofacial abnormal microcephaly club
• 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 47, XXY - 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