List of rare diseases-X

NIH genetic and rare disease info

• NIH info on List of rare diseases-X

List of rare diseases-X is a rare disease.

• X chromosome, monosomy Xq28
• X chromosome-linked sideroblastic anemia
• X linked ichthyosis
• X linked spondyloepiphyseal dysplasia tarda
• X-ALD
• Xanthine dehydrogenase and aldehyde oxidase combined deficiency of
• Xanthine dehydrogenase deficiency
• Xanthine oxidase deficiency
• Xanthinuria type 1
• Xanthinuria type 2
• Xanthism
• Xanthogranulomatous cholecystitis
• Xanthogranulomatous sialadenitis
• Xanthoma disseminatum
• Xanthurenic aciduria
• X-chromosome-linked achromatopsia
• XDH and AOX dual deficiency
• XDH deficiency
• XDP
• Xerocytosis hereditary
• Xeroderma pigmentosa
• Xeroderma pigmentosum
• Xeroderma pigmentosum with normal DNA repair rates
• Xeroderma pigmentosum, variant type
• Xerodermic idiocy
• Xerophthalmia- not a rare disease.
• Xerotic Keratitis
• XFE progeroid syndrome
• XGPT deficiency
• XHED
• XHIM
• Xia-Gibbs syndrome
• XIAP deficiency
• XIAP-related lymphoproliferative disease, X-linked
• XJR
• XK aprosencephaly
• XK syndrome
• XK-aprosencephaly syndrome
• XLA
• XLA2
• XLAAD
• XLAG (X-linked lissencephaly with abnormal genitalia) syndrome
• XLAG syndrome
• XLAS
• XLCNM
• XLH
• X-linked achromatopsia incomplete
• X-linked adrenal hypoplasia congenita
• X-linked adrenoleukodystrophy
• X-linked agammaglobulinemia
• X-linked AHC
• X-linked alpha-thalassemia/intellectual disability syndrome
• X-linked anencephaly/spina bifida
• X-linked Angelman-like 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
• X-linked bulbospinal amyotrophy
• X-linked centronuclear myopathy
• X-linked cerebral 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 cleft palate
• X-linked complicated corpus callosum agenesis
• X-linked complicated corpus callosum dysgenesis
• X-linked complicated spastic paraplegia type 1
• X-linked congenital adrenal hypoplasia
• X-linked congenital generalized hypertrichosis
• X-linked congenital stationary night blindness
• X-linked creatine deficiency
• X-linked creatine deficiency syndrome
• X-linked creatine transporter deficiency
• X-linked CSNB
• X-linked dominant chondrodysplasia punctata 2
• X-linked dominant infantile spasm syndrome-2
• X-linked dominant scapuloperoneal myopathy
• X-linked Dyskeratosis congenita
• X-Linked Dystonia-Parkinsonism syndrome
• X-linked dystonia-parkinsonism/Lubag
• X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females
• X-linked fatal ataxia with deafness and loss of vision
• X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
• X-linked form of fetal akinesia syndrome
• X-linked hereditary motor and sensory neuropathy
• 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
• X-linked hypodontia
• X-linked hypogonadism gynecomastia intellectual disability
• X-linked hypohidrotic ectodermal dysplasia
• X-linked hypophosphatemia
• X-linked hypophosphatemic rickets
• X-linked ichthyosis
• X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
• X-linked immunoneurological disorder
• X-linked infantile spasm syndrome
• X-linked infantile spasms
• X-linked Intellectual Deficit with Cerebellar Hypoplasia
• X-linked intellectual disability - corpus callosum agenesis - spastic quadriparesis
• X-linked intellectual disability - craniofacial dysmorphism - epilepsy - ophthalmoplegia - cerebellar atrophy
• X-linked intellectual disability - Dandy-Walker malformation - basal ganglia disease - Seizures
• X-linked intellectual disability - gynecomastia - obesity
• X-linked intellectual disability - microcephaly - pontocerebellar hypoplasia
• X-linked intellectual disability - seizures - psoriasis
• X-linked intellectual disability - short stature – obesity
• X-linked intellectual disability 1
• X-linked intellectual disability 1/78
• X-linked intellectual disability 78
• X-linked intellectual disability with hypotonia
• X-linked intellectual disability with or without nystagmus
• X-linked intellectual disability, Abidi type
• X-linked intellectual disability, Cabezas type
• 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
• X-linked intellectual disability, Stocco Dos Santos type
• X-linked intellectual disability, Turner type
• X-linked intellectual disability-cerebellar hypoplasia syndrome
• X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome
• X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome
• X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
• X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
• X-linked intellectual disability-gynecomastia-obesity syndrome
• X-linked intellectual disability-hypotonic facies syndrome 1
• X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome
• X-linked intellectual disability-plagiocephaly syndrome
• X-linked intellectual disability-seizures-psoriasis syndrome
• X-linked juvenile retinoschisis
• X-linked lissencephaly
• X-linked lissencephaly - agenesis of the corpus callosum - genital anomalies
• X-linked lissencephaly with abnormal genitalia
• X-linked lissencephaly with ambiguous genitalia
• X-linked lissencephaly-agenesis of the corpus callosum-genital anomalies syndrome
• X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome
• X-linked lymphoproliferative disease
• 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
• X-linked MEHMO syndrome
• X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
• X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency
• X-linked mental handicap-retinitis pigmentosa syndrome
• X-linked mental retardation and macroorchidism
• X-linked mental retardation associated with fragile site FRAXE
• X-linked mental retardation associated with psoriasis
• X-linked mental retardation Brooks type
• X-linked mental retardation Hamel type
• X-linked mental retardation Snyder-Robinson type
• X-linked mental retardation syndromic 3
• X-linked mental retardation with spastic diplegia
• X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation
• X-linked MSMD due to IKBKG deficiency
• X-linked myopathy with excessive autophagy
• X-linked myotubular myopathy
• X-linked non-specific intellectual disability
• X-linked non-syndromic intellectual disability
• X-linked ocular albinism
• X-linked partial agenesis of corpus callosum
• X-linked partial corpus callosum agenesis
• X-linked periventricular heterotopia
• X-linked progressive combined variable immunodeficiency 5
• X-linked recessive basal ganglia disorder with mental retardation
• X-linked recessive cone dystrophy with tapetal-like sheen
• X-linked recessive hypercalciuric hypophosphatemic rickets
• X-linked recessive nephrolithiasis
• X-linked recessive ocular albinism
• X-linked retinoschisis
• X-linked SCID
• X-linked severe combined immunodeficiency
• X-linked severe congenital neutropenia
• X-linked sideroblastic anemia
• X-linked sideroblastic anemia and ataxia
• X-linked sideroblastic anemia and spinocerebellar ataxia
• X-linked sideroblastic anemia with ataxia
• X-linked spinal and bulbar muscular atrophy
• X-linked spondyloepiphyseal dysplasia
• X-linked susceptibility to autism-4
• X-linked thrombocytopenia
• X-linked thrombocytopenia with normal platelets
• X-Linked Torsion Dystonia-Parkinsonism syndrome
• X-linked VACTERL-H syndrome
• X-linked vacuolar cardiomyopathy and myopathy
• X-linked visceral heterotaxy 1
• XLIS
• XLISG
• XLMR hypotonic face syndrome
• XLMR syndrome, Lubs type
• XLMTM
• XLN
• XLOA
• XLP
• XLP1
• XLP2
• XLPD
• XLSA
• XLSA-A
• XLT
• XMEA
• XMEN
• XMVD
• XP
• Xp deletion
• Xp monosomy
• Xp22.3 microdeletion syndrome
• Xp22.3 microdeletion syndrome
• XPF-ERCC1 progeroid syndrome
• XPID
• XPV
• Xq deletion
• Xq duplication
• Xq monosomy
• Xq trisomy
• Xq28 deletion syndrome
• XSCID
• X-SCID
• XX male syndrome
• XX sex reversal
• XXX syndrome
• XXXXY syndrome
• XXXY syndrome
• XXXYY syndrome
• XXY syndrome- not a rare disease.
• XXY trisomy- not a rare disease.
• XXYY syndrome
• XY female
• Xylitol dehydrogenase deficiency
• Xylosylprotein 4-beta-galactosyltransferase deficiency
• XYY Karyotype
• XYY syndrome

NIH genetic and rare disease info

• NIH info on List of rare diseases-X

List of rare diseases-X is a rare disease.