Genetic diseases-X
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- X chromosome-linked sideroblastic anemia see X-linked sideroblastic anemia
- X linked Recessive Hereditary Spastic Paraplegia see Spastic paraplegia type 2
- X-ALD see X-linked adrenoleukodystrophy
- X-LAG see X-linked acrogigantism
- X-linked acrogigantism
- X-linked acrogigantism syndrome see X-linked acrogigantism
- X-linked adrenal hypoplasia congenita
- X-linked adrenoleukodystrophy
- X-linked agammaglobulinemia
- X-linked AHC see X-linked adrenal hypoplasia congenita
- X-linked alpha-thalassemia/mental retardation syndrome see Alpha thalassemia X-linked intellectual disability syndrome
- X-linked arthrogryposis multiplex congenita see X-linked infantile spinal muscular atrophy
- X-linked arthrogryposis type I see X-linked infantile spinal muscular atrophy
- X-linked autoimmunity-allergic dysregulation syndrome see Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
- X-linked cardiac valvular dysplasia
- X-linked centronuclear myopathy see X-linked myotubular myopathy
- X-linked chondrodysplasia punctata 1
- X-linked chondrodysplasia punctata 2
- X-linked chronic granulomatous disease see Chronic granulomatous disease
- X-linked congenital nystagmus see X-linked infantile nystagmus
- X-linked congenital stationary night blindness
- X-linked copper deficiency see Menkes syndrome
- X-linked creatine deficiency
- X-linked creatine deficiency syndrome see X-linked creatine deficiency
- X-linked CSNB see X-linked congenital stationary night blindness
- X-linked dilated cardiomyopathy
- X-linked dominant chondrodysplasia punctata see X-linked chondrodysplasia punctata 2
- X-linked dystonia-parkinsonism
- X-linked dystonia-parkinsonism syndrome see X-linked dystonia-parkinsonism
- X-linked hydrocephalus syndrome see L1 syndrome
- X-linked hyper IgM syndrome
- X-linked hypergonadotropic ovarian failure see Fragile X-associated primary ovarian insufficiency
- X-linked hyperuricemia see Lesch-Nyhan syndrome
- X-linked idiopathic infantile nystagmus see X-linked infantile nystagmus
- X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia
- X-linked infantile nystagmus
- X-linked infantile spasm syndrome see Early infantile epileptic encephalopathy 1
- X-linked infantile spasm syndrome 1 see Early infantile epileptic encephalopathy 1
- X-linked infantile spinal muscular atrophy
- X-linked intellectual deficit due to PQBP1 mutations see Renpenning syndrome
- X-linked intellectual deficit with marfanoid habitus see Lujan syndrome
- X-linked intellectual deficit, Najm type see CASK-related intellectual disability
- X-linked intellectual deficit, Renpenning type see Renpenning syndrome
- X-linked intellectual deficit-dystonia-dysarthria see Partington syndrome
- X-linked intellectual disability, Siderius type
- X-linked juvenile retinoschisis
- X-linked lethal infantile SMA see X-linked infantile spinal muscular atrophy
- X-linked lissencephaly 2 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 lymphoproliferative disease
- X-linked lymphoproliferative syndrome see X-linked lymphoproliferative disease
- X-linked macrothrombocytopenia see Dyserythropoietic anemia and thrombocytopenia
- X-linked mental retardation and macroorchidism see Fragile X syndrome
- X-linked mental retardation Hamel type see X-linked intellectual disability, Siderius type
- X-linked mental retardation Siderius type see X-linked intellectual disability, Siderius type
- X-linked mental retardation with dystonic movements, ataxia, and seizures see Partington syndrome
- X-linked mental retardation with marfanoid habitus see Lujan syndrome
- X-linked mental retardation, syndromic 13 see PPM-X syndrome
- X-linked monoamine oxidase deficiency see Monoamine oxidase A deficiency
- X-linked myotubular myopathy
- X-linked myxomatous valvular dystrophy see X-linked cardiac valvular dysplasia
- X-linked Ohdo syndrome see Ohdo syndrome, Maat-Kievit-Brunner type
- X-linked Ohtahara syndrome see Early infantile epileptic encephalopathy 1
- X-linked primary hyperuricemia see Lesch-Nyhan syndrome
- X-linked pyridoxine-responsive sideroblastic anemia see X-linked sideroblastic anemia
- X-linked recessive chondrodysplasia punctata 1 see X-linked chondrodysplasia punctata 1
- X-linked retinoschisis see X-linked juvenile retinoschisis
- X-linked SCID see X-linked severe combined immunodeficiency
- X-linked SED see X-linked spondyloepiphyseal dysplasia tarda
- X-linked SEDT see X-linked spondyloepiphyseal dysplasia tarda
- X-linked severe combined immunodeficiency
- X-linked sideroblastic anemia
- X-linked sideroblastic anemia and ataxia
- X-linked spinal and bulbar muscular atrophy see Spinal and bulbar muscular atrophy
- X-linked spondyloepiphyseal dysplasia tarda
- X-linked thrombocytopenia
- X-linked torsion dystonia-parkinsonism syndrome see X-linked dystonia-parkinsonism
- X-linked uric aciduria enzyme defect see Lesch-Nyhan syndrome
- X-linked West syndrome see Early infantile epileptic encephalopathy 1
- X-SCID see X-linked severe combined immunodeficiency
- xanthine dehydrogenase deficiency see Hereditary xanthinuria
- xanthine oxidase deficiency see Hereditary xanthinuria
- xanthinuria see Hereditary xanthinuria
- XDH deficiency see Hereditary xanthinuria
- XDP see X-linked dystonia-parkinsonism
- Xeroderma pigmentosum
- XGS see Xia-Gibbs syndrome
- Xia-Gibbs syndrome
- XJR see X-linked juvenile retinoschisis
- XL-SMA see X-linked infantile spinal muscular atrophy
- XLA see X-linked agammaglobulinemia
- XLAAD see Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
- XLAG see X-linked lissencephaly with abnormal genitalia
- XLAG see X-linked acrogigantism
- XLCM see X-linked dilated cardiomyopathy
- XLCSNB see X-linked congenital stationary night blindness
- XLDC see X-linked dilated cardiomyopathy
- XLISG see X-linked lissencephaly with abnormal genitalia
- XLMR with marfanoid features see Lujan syndrome
- XLMR-hypotonic face syndrome see Alpha thalassemia X-linked intellectual disability syndrome
- XLMTM see X-linked myotubular myopathy
- XLOA see Ocular albinism
- XLP see X-linked lymphoproliferative disease
- XLSA see X-linked sideroblastic anemia
- XLSA/A see X-linked sideroblastic anemia and ataxia
- XLSMA see X-linked infantile spinal muscular atrophy
- XLT see X-linked thrombocytopenia
- XMEN see X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia
- XMTM see X-linked myotubular myopathy
- XMVD see X-linked cardiac valvular dysplasia
- XP see Xeroderma pigmentosum
- XSCID 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 Triple X syndrome
- XXXXY aneuploidy see 49,XXXXY syndrome
- XXXXY syndrome see 49,XXXXY syndrome
- XXXY males see 48,XXXY syndrome
- XXXY syndrome see 48,XXXY syndrome
- XXY syndrome see Klinefelter syndrome
- XXY trisomy see Klinefelter syndrome
- XXYY syndrome see 48,XXYY syndrome
- XY pure gonadal dysgenesis see Swyer syndrome
- xylitol dehydrogenase deficiency see Essential pentosuria
- XYY karyotype see 47,XYY syndrome
- XYY syndrome see 47,XYY syndrome
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