List of rare diseases-X
From WikiMD's WELLNESSPEDIA
NIH genetic and rare disease info[edit]
List of rare diseases-X is a rare disease.
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Rare diseases - List of rare diseases-X
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- 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[edit]
List of rare diseases-X is a rare disease.
| Rare and genetic diseases | ||||||
|---|---|---|---|---|---|---|
|
Rare diseases - List of rare diseases-X
|
