General Information
Term	X-linked monogenic disease	ID (Ontology)	DOID:0050735 (Human Disease)
Definition	A monogenic disease that has_material_basis_in mutations in genes on the X chromosome.
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  genetic disease
   |__monogenic disease
       |__X-linked monogenic disease  710 rec.
           |__46,XY sex reversal 2
           |__Abruzzo-Erickson syndrome 6 rec.
           |__cataract 40 1 rec.
           |__congenital bilateral absence of vas deferens 5 rec.
           |   |__autosomal recessive congenital bilateral absence of vas deferens 3 rec.
           |   |__X-linked congenital bilateral absence of vas deferens 2 rec.
           |__congenital nonspherocytic hemolytic anemia 1 2 rec.
           |__corpus callosum agenesis-abnormal genitalia syndrome 3 rec.
           |__developmental and epileptic encephalopathy 90 1 rec.
           |__fetal akinesia deformation sequence syndrome X-linked
           |__McLeod syndrome
           |__Meester-Loeys syndrome
           |__Melnick-Needles syndrome 2 rec.
           |__non-syndromic X-linked intellectual disability 65 rec.
           |   |__chromosome Xp11.22 duplication syndrome
           |   |__non-syndromic X-linked intellectual developmental disorder 111 1 rec.
           |   |__non-syndromic X-linked intellectual disability 1 1 rec.
           |   |__non-syndromic X-linked intellectual disability 2
           |   |__non-syndromic X-linked intellectual disability 9 5 rec.
           |   |__non-syndromic X-linked intellectual disability 14
           |   |__non-syndromic X-linked intellectual disability 19 1 rec.
           |   |__non-syndromic X-linked intellectual disability 20
           |   |__non-syndromic X-linked intellectual disability 21
           |   |__non-syndromic X-linked intellectual disability 23
           |   |__non-syndromic X-linked intellectual disability 30 2 rec.
           |   |__non-syndromic X-linked intellectual disability 41 1 rec.
           |   |__non-syndromic X-linked intellectual disability 42
           |   |__non-syndromic X-linked intellectual disability 45
           |   |__non-syndromic X-linked intellectual disability 46
           |   |__non-syndromic X-linked intellectual disability 50 1 rec.
           |   |__non-syndromic X-linked intellectual disability 53
           |   |__non-syndromic X-linked intellectual disability 58 3 rec.
           |   |__non-syndromic X-linked intellectual disability 63 14 rec.
           |   |__non-syndromic X-linked intellectual disability 72 1 rec.
           |   |__non-syndromic X-linked intellectual disability 73
           |   |__non-syndromic X-linked intellectual disability 77
           |   |__non-syndromic X-linked intellectual disability 81
           |   |__non-syndromic X-linked intellectual disability 82
           |   |__non-syndromic X-linked intellectual disability 84
           |   |__non-syndromic X-linked intellectual disability 88
           |   |__non-syndromic X-linked intellectual disability 89
           |   |__non-syndromic X-linked intellectual disability 90 1 rec.
           |   |__non-syndromic X-linked intellectual disability 91
           |   |__non-syndromic X-linked intellectual disability 92
           |   |__non-syndromic X-linked intellectual disability 93 1 rec.
           |   |__non-syndromic X-linked intellectual disability 96
           |   |__non-syndromic X-linked intellectual disability 97
           |   |__non-syndromic X-linked intellectual disability 98
           |   |__non-syndromic X-linked intellectual disability 99 1 rec.
           |   |__non-syndromic X-linked intellectual disability 100 1 rec.
           |   |__non-syndromic X-linked intellectual disability 101
           |   |__non-syndromic X-linked intellectual disability 103 1 rec.
           |   |__non-syndromic X-linked intellectual disability 104 1 rec.
           |   |__non-syndromic X-linked intellectual disability 105 1 rec.
           |   |__non-syndromic X-linked intellectual disability 106 17 rec.
           |   |__non-syndromic X-linked intellectual disability 107 1 rec.
           |   |__non-syndromic X-linked intellectual disability ARX-related 3 rec.
           |__Ogden syndrome 1 rec.
           |__ovarian dysgenesis 2
           |__primary ovarian insufficiency 1 1 rec.
           |__primary ovarian insufficiency 4
           |__reducing body myopathy 1B 6 rec.
           |__retinitis pigmentosa 2
           |__retinitis pigmentosa 24
           |__split hand-foot malformation 2
           |__syndromic microphthalmia 1 1 rec.
           |__syndromic microphthalmia 13 5 rec.
           |__syndromic X-linked intellectual disability 123 rec.
           |   |__Armfield syndrome 1 rec.
           |   |__Arts syndrome 1 rec.
           |   |__Basilicata-Akhtar syndrome 1 rec.
           |   |__Billuart-type X-linked syndromic intellectual developmental disorder 10 rec.
           |   |__Borjeson-Forssman-Lehmann syndrome 1 rec.
           |   |__Christianson syndrome 1 rec.
           |   |__corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 1 rec.
           |   |__deafness-intellectual disability, Martin-Probst type syndrome
           |   |__female-restricted syndromic X-linked intellectual disability 99 1 rec.
           |   |__female-restricted Wieacker-Wolff syndrome 1 rec.
           |   |__MEHMO syndrome 1 rec.
           |   |__Mullegama-Klein-Martinez syndrome 2 rec.
           |   |__Paganini-Miozzo syndrome 1 rec.
           |   |__Partington syndrome 3 rec.
           |   |__Prieto syndrome 1 rec.
           |   |__Raynaud-Claes syndrome 1 rec.
           |   |__Renpenning syndrome 10 rec.
           |   |__Stocco Dos Santos type X-linked intellectual disability
           |   |__syndromic X-linked intellectual developmental disorder bain type 1 rec.
           |   |__syndromic X-linked intellectual disability 5 1 rec.
           |   |__syndromic X-linked intellectual disability 7
           |   |__syndromic X-linked intellectual disability 12
           |   |__syndromic X-linked intellectual disability 14 1 rec.
           |   |__syndromic X-linked intellectual disability 17
           |   |__syndromic X-linked intellectual disability 34 5 rec.
           |   |__syndromic X-linked intellectual disability 94 17 rec.
           |   |__syndromic X-linked intellectual disability Abidi type
           |   |__syndromic X-linked intellectual disability Cabezas type 1 rec.
           |   |__syndromic X-linked intellectual disability Chudley-Schwartz type
           |   |__syndromic X-linked intellectual disability Claes-Jensen type 10 rec.
           |   |__syndromic X-linked intellectual disability Hedera type 2 rec.
           |   |__syndromic X-linked intellectual disability Lubs type 4 rec.
           |   |__syndromic X-linked intellectual disability Najm type 2 rec.
           |   |__syndromic X-linked intellectual disability Nascimento type 2 rec.
           |   |__syndromic X-linked intellectual disability Pilorge type 13 rec.
           |   |__syndromic X-linked intellectual disability Raymond type 1 rec.
           |   |__syndromic X-linked intellectual disability Shashi type
           |   |__syndromic X-linked intellectual disability Shrimpton type
           |   |__syndromic X-linked intellectual disability Siderius type 1 rec.
           |   |__syndromic X-linked intellectual disability Snyder type 3 rec.
           |   |__syndromic X-linked intellectual disability Turner type 2 rec.
           |   |__syndromic X-linked intellectual disability type 10 4 rec.
           |   |__syndromic X-linked intellectual disorder Lujan-Fryns-type 1 rec.
           |   |__syndromic X-linked mental retardation 35 1 rec.
           |   |__syndromic X-linked mental retardation Hough type 1 rec.
           |   |__Tonne-Kalscheuer syndrome 1 rec.
           |   |__Van Esch-O'Driscoll syndrome 1 rec.
           |   |__Wieacker-Wolff syndrome 1 rec.
           |   |__Wilson-Turner syndrome 1 rec.
           |   |__X-linked intellectual developmental disorder 108 1 rec.
           |   |__X-linked intellectual developmental disorder 109 1 rec.
           |   |__X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
           |   |__X-linked intellectual disability-hypotonic facies syndrome-1 2 rec.
           |   |__X-linked intellectual disability-psychosis-macroorchidism syndrome 2 rec.
           |   |__X-linked intellectual disability-short stature-overweight syndrome 1 rec.
           |   |__X-linked mental retardation Gustavson type
           |__TARP syndrome 2 rec.
           |__X-linked cardiac valvular dysplasia 2 rec.
           |__X-linked central diabetes insipidus
           |__X-linked cleft palate with or without ankyloglossia 6 rec.
           |__X-linked dilated cardiomyopathy 2 rec.
           |__X-linked dominant disease 193 rec.
           |   |__46,XX sex reversal 1 3 rec.
           |   |__46,XX sex reversal 3
           |   |__alpha thalassemia-X-linked intellectual disability syndrome 2 rec.
           |   |__amelogenesis imperfecta type 1E
           |   |__Charcot-Marie-Tooth disease X-linked dominant 1
           |   |__Charcot-Marie-Tooth disease X-linked dominant 6 1 rec.
           |   |__CHILD syndrome 1 rec.
           |   |__Christianson syndrome 1 rec.
           |   |__chromosome Xp11.23-p11.22 duplication syndrome
           |   |__Coffin-Lowry syndrome 3 rec.
           |   |__congenital disorder of glycosylation type IIm 1 rec.
           |   |__congenital nystagmus 5
           |   |__Cornelia de Lange syndrome 2 4 rec.
           |   |__Cornelia de Lange syndrome 5 1 rec.
           |   |__craniofrontonasal syndrome 1 rec.
           |   |__Danon disease 1 rec.
           |   |__deafness, dystonia, and cerebral hypomyelination 1 rec.
           |   |__developmental and epileptic encephalopathy 2 2 rec.
           |   |__developmental and epileptic encephalopathy 9
           |   |__developmental and epileptic encephalopathy 36 3 rec.
           |   |__developmental and epileptic encephalopathy 85 1 rec.
           |   |__female-restricted syndromic X-linked intellectual disability 99 1 rec.
           |   |__female-restricted Wieacker-Wolff syndrome 1 rec.
           |   |__focal dermal hypoplasia 1 rec.
           |   |__fragile X syndrome 116 rec.
           |   |__Holoprosencephaly 13, X-linked 2 rec.
           |   |__linear skin defects with multiple congenital anomalies 1 1 rec.
           |   |__linear skin defects with multiple congenital anomalies 2
           |   |__linear skin defects with multiple congenital anomalies 3 1 rec.
           |   |__Lisch epithelial corneal dystrophy 2 rec.
           |   |__Nance-Horan syndrome 1 rec.
           |   |__neurodegeneration with brain iron accumulation 5 1 rec.
           |   |__non-syndromic X-linked intellectual disability 1 1 rec.
           |   |__non-syndromic X-linked intellectual disability 2
           |   |__non-syndromic X-linked intellectual disability 19 1 rec.
           |   |__non-syndromic X-linked intellectual disability 41 1 rec.
           |   |__non-syndromic X-linked intellectual disability 63 14 rec.
           |   |__non-syndromic X-linked intellectual disability 89
           |   |__non-syndromic X-linked intellectual disability 91
           |   |__non-syndromic X-linked intellectual disability 98
           |   |__non-syndromic X-linked intellectual disability 107 1 rec.
           |   |__nonphotosensitive trichothiodystrophy 5 1 rec.
           |   |__orofaciodigital syndrome I
           |   |__otopalatodigital syndrome type 1 2 rec.
           |   |__otopalatodigital syndrome type 2 2 rec.
           |   |__primary ovarian insufficiency 2A 1 rec.
           |   |__Raynaud-Claes syndrome 1 rec.
           |   |__reducing body myopathy 1A 7 rec.
           |   |__syndromic microphthalmia 2 1 rec.
           |   |__X-linked Alport syndrome 1 rec.
           |   |__X-linked chondrodysplasia punctata 2(+) 1 rec.
           |   |__X-linked endothelial corneal dystrophy
           |   |__X-linked hypophosphatemic rickets 9 rec.
           |__X-linked epilepsy with variable learning disabilities and behavior disorders 1 rec.
           |__X-linked exudative vitreoretinopathy 2
           |__X-linked hereditary ataxia 130 rec.
           |   |__fragile X-associated tremor/ataxia syndrome 129 rec.
           |   |__X-linked cerebellar ataxia(+) 1 rec.
           |__X-linked hypoparathyroidism
           |__X-linked lissencephaly 1 1 rec.
           |__X-linked lissencephaly 2 3 rec.
           |__X-linked nonsyndromic deafness 5 rec.
           |   |__X-linked deafness 1 1 rec.
           |   |__X-linked deafness 2 1 rec.
           |   |__X-linked deafness 3
           |   |__X-linked deafness 4
           |   |__X-linked deafness 6 2 rec.
           |   |__X-linked deafness 7 1 rec.
           |__X-linked panhypopituitarism 8 rec.
           |__X-linked recessive disease 280 rec.
           |   |__adrenoleukodystrophy 11 rec.
           |   |__Aland Island eye disease 1 rec.
           |   |__Allan-Herndon-Dudley syndrome 2 rec.
           |   |__Barth syndrome 14 rec.
           |   |__blue cone monochromacy
           |   |__Borjeson-Forssman-Lehmann syndrome 1 rec.
           |   |__Brunner Syndrome 1 rec.
           |   |__CD40 ligand deficiency
           |   |__Charcot-Marie-Tooth disease X-linked recessive 2
           |   |__Charcot-Marie-Tooth disease X-linked recessive 3
           |   |__Charcot-Marie-Tooth disease X-linked recessive 4 1 rec.
           |   |__Charcot-Marie-Tooth disease X-linked recessive 5 1 rec.
           |   |__CK syndrome 1 rec.
           |   |__combined oxidative phosphorylation deficiency 6 1 rec.
           |   |__congenital disorder of glycosylation Icc 1 rec.
           |   |__congenital disorder of glycosylation Iy 1 rec.
           |   |__congenital disorder of glycosylation type IIr 2 rec.
           |   |__congenital nongoitrous hypothyroidism 9 1 rec.
           |   |__congenital nonspherocytic hemolytic anemia 9 2 rec.
           |   |__congenital nystagmus 1 1 rec.
           |   |__congenital stationary night blindness 1A 2 rec.
           |   |__congenital stationary night blindness 2A 1 rec.
           |   |__Dent disease(+) 4 rec.
           |   |__developmental and epileptic encephalopathy 1 3 rec.
           |   |__developmental and epileptic encephalopathy 8 1 rec.
           |   |__Diamond-Blackfan anemia 14 with mandibulofacial dysostosis 1 rec.
           |   |__Duchenne muscular dystrophy 16 rec.
           |   |__ectodermal dysplasia 1 1 rec.
           |   |__ectodermal dysplasia and immunodeficiency 1
           |   |__factor VIII deficiency
           |   |__Fanconi anemia complementation group B
           |   |__FG syndrome 5 rec.
           |   |__frontometaphyseal dysplasia 1 2 rec.
           |   |__Galloway-Mowat syndrome 2 1 rec.
           |   |__glycogen storage disease IXa 1 rec.
           |   |__glycogen storage disease IXd 1 rec.
           |   |__glycogen storage disease VIII
           |   |__hemophilia B 1 rec.
           |   |__hereditary congenital ptosis 2
           |   |__hereditary sensory neuropathy X-linked
           |   |__hereditary spastic paraplegia 2 1 rec.
           |   |__hereditary spastic paraplegia 16
           |   |__hereditary spastic paraplegia 34
           |   |__Holoprosencephaly 13, X-linked 2 rec.
           |   |__HRPT-related hyperuricemia
           |   |__hypogonadotropic hypogonadism 1 with or without anosmia 1 rec.
           |   |__ichthyosis follicularis-alopecia-photophobia syndrome 1 1 rec.
           |   |__IGSF1 deficiency syndrome
           |   |__immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 1 rec.
           |   |__immunodeficiency 33
           |   |__immunodeficiency 34 1 rec.
           |   |__immunodeficiency 47 3 rec.
           |   |__immunodeficiency 50 1 rec.
           |   |__immunodeficiency 98 8 rec.
           |   |__immunodeficiency 102 1 rec.
           |   |__immunodeficiency 118 1 rec.
           |   |__isolated growth hormone deficiency type III 1 rec.
           |   |__Joubert syndrome 10
           |   |__Keipert syndrome 1 rec.
           |   |__Kennedy's disease 56 rec.
           |   |__Lesch-Nyhan syndrome 5 rec.
           |   |__MASA syndrome 6 rec.
           |   |__megalocornea
           |   |__MEHMO syndrome 1 rec.
           |   |__MEND syndrome
           |   |__methylmalonic acidemia and homocysteinemia cblX type 1 rec.
           |   |__midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 1 rec.
           |   |__multiple congenital anomalies-hypotonia-seizures syndrome 2 8 rec.
           |   |__nephrogenic syndrome of inappropriate antidiuresis
           |   |__non-syndromic X-linked intellectual disability 9 5 rec.
           |   |__non-syndromic X-linked intellectual disability 21
           |   |__non-syndromic X-linked intellectual disability 30 2 rec.
           |   |__non-syndromic X-linked intellectual disability 46
           |   |__non-syndromic X-linked intellectual disability 53
           |   |__non-syndromic X-linked intellectual disability 58 3 rec.
           |   |__non-syndromic X-linked intellectual disability 72 1 rec.
           |   |__non-syndromic X-linked intellectual disability 73
           |   |__non-syndromic X-linked intellectual disability 77
           |   |__non-syndromic X-linked intellectual disability 81
           |   |__non-syndromic X-linked intellectual disability 82
           |   |__non-syndromic X-linked intellectual disability 84
           |   |__non-syndromic X-linked intellectual disability 90 1 rec.
           |   |__non-syndromic X-linked intellectual disability 92
           |   |__non-syndromic X-linked intellectual disability 93 1 rec.
           |   |__non-syndromic X-linked intellectual disability 96
           |   |__non-syndromic X-linked intellectual disability 99 1 rec.
           |   |__non-syndromic X-linked intellectual disability 100 1 rec.
           |   |__non-syndromic X-linked intellectual disability 101
           |   |__non-syndromic X-linked intellectual disability 103 1 rec.
           |   |__non-syndromic X-linked intellectual disability 104 1 rec.
           |   |__non-syndromic X-linked intellectual disability 105 1 rec.
           |   |__non-syndromic X-linked intellectual disability ARX-related 3 rec.
           |   |__Norrie disease
           |   |__nuclear type mitochondrial complex I deficiency 12 1 rec.
           |   |__nuclear type mitochondrial complex I deficiency 30 1 rec.
           |   |__occipital horn syndrome 2 rec.
           |   |__oculocerebrorenal syndrome 2 rec.
           |   |__Opitz GBBB syndrome
           |   |__orofaciodigital syndrome VIII
           |   |__osteogenesis imperfecta type 19 1 rec.
           |   |__Paganini-Miozzo syndrome 1 rec.
           |   |__partial androgen insensitivity syndrome 1 rec.
           |   |__Partington syndrome 3 rec.
           |   |__Pelizaeus-Merzbacher disease 1 rec.
           |   |__phosphoglycerate kinase 1 deficiency 2 rec.
           |   |__phosphoribosylpyrophosphate synthetase superactivity 1 rec.
           |   |__Prieto syndrome 1 rec.
           |   |__primary ovarian insufficiency 2B
           |   |__Renpenning syndrome 10 rec.
           |   |__retinitis pigmentosa 23
           |   |__Ritscher-Schinzel syndrome 2 1 rec.
           |   |__severe congenital encephalopathy due to MECP2 mutation 2 rec.
           |   |__Shukla-Vernon syndrome 1 rec.
           |   |__sideroblastic anemia 1 1 rec.
           |   |__Simpson-Golabi-Behmel syndrome type 1 1 rec.
           |   |__Simpson-Golabi-Behmel syndrome type 2
           |   |__spastic paraplegia with deafness
           |   |__syndactyly type 8 1 rec.
           |   |__syndromic X-linked intellectual disability 5 1 rec.
           |   |__syndromic X-linked intellectual disability 17
           |   |__syndromic X-linked intellectual disability Claes-Jensen type 10 rec.
           |   |__syndromic X-linked intellectual disability Siderius type 1 rec.
           |   |__syndromic X-linked intellectual disability Snyder type 3 rec.
           |   |__syndromic X-linked intellectual disorder Lujan-Fryns-type 1 rec.
           |   |__syndromic X-linked mental retardation 35 1 rec.
           |   |__Van Esch-O'Driscoll syndrome 1 rec.
           |   |__visceral heterotaxy 1 1 rec.
           |   |__Waisman syndrome 2 rec.
           |   |__Wieacker-Wolff syndrome 1 rec.
           |   |__Wilson-Turner syndrome 1 rec.
           |   |__Wiskott-Aldrich syndrome 1 rec.
           |   |__X-linked Aarskog syndrome 1 rec.
           |   |__X-linked adrenal hypoplasia congenita
           |   |__X-linked agammaglobulinemia 1 rec.
           |   |__X-linked atrophic macular degeneration 3 rec.
           |   |__X-linked chondrodysplasia punctata 1 2 rec.
           |   |__X-linked chronic granulomatous disease 1 rec.
           |   |__X-linked chronic idiopathic intestinal pseudo-obstruction 2 rec.
           |   |__X-linked cone-rod dystrophy 3 1 rec.
           |   |__X-linked congenital hemolytic anemia 2 rec.
           |   |__X-linked deafness 5 1 rec.
           |   |__X-linked distal spinal muscular atrophy 3 2 rec.
           |   |__X-linked dyserythropoietic anemia 2 rec.
           |   |__X-linked dyskeratosis congenita 7 rec.
           |   |__X-linked dystonia-parkinsonism 1 rec.
           |   |__X-linked Emery-Dreifuss muscular dystrophy 1
           |   |__X-linked Emery-Dreifuss muscular dystrophy 6 4 rec.
           |   |__X-linked hyper IgM syndrome
           |   |__X-linked ichthyosis 5 rec.
           |   |__X-Linked immunodeficiency 74 8 rec.
           |   |__X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia 1 rec.
           |   |__X-linked intellectual developmental disorder 108 1 rec.
           |   |__X-linked intellectual developmental disorder 109 1 rec.
           |   |__X-linked intellectual disability-short stature-overweight syndrome 1 rec.
           |   |__X-linked juvenile retinoschisis 1
           |   |__X-linked keratosis follicularis spinulosa decalvans 1 rec.
           |   |__X-linked lymphoproliferative syndrome 1
           |   |__X-linked lymphoproliferative syndrome 2 1 rec.
           |   |__X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques 1 rec.
           |   |__X-linked myopathy with excessive autophagy 1 rec.
           |   |__X-linked nephrogenic diabetes insipidus
           |   |__X-linked nephrolithiasis type I 1 rec.
           |   |__X-linked parkinsonism-spasticity syndrome 1 rec.
           |   |__X-linked properdin deficiency
           |   |__X-linked recessive hypophosphatemic rickets 1 rec.
           |   |__X-linked severe combined immunodeficiency
           |   |__X-linked severe congenital neutropenia 1 rec.
           |   |__X-linked sideroblastic anemia with ataxia 1 rec.
           |   |__X-linked spermatogenic failure 2
           |   |__X-linked spermatogenic failure 3
           |   |__X-linked spermatogenic failure 7 1 rec.
           |   |__X-linked spermatogenic failure 9 2 rec.
           |   |__X-linked spinal muscular atrophy 2 1 rec.
           |   |__X-linked spinocerebellar ataxia 1 1 rec.
           |   |__X-linked spinocerebellar ataxia 5
           |   |__X-linked spondyloepimetaphyseal dysplasia
           |   |__X-linked spondyloepiphyseal dysplasia tarda 1 rec.
           |   |__X-linked thrombocytopenia with beta-thalassemia 2 rec.
           |   |__X-linked VACTERL association 1 rec.
           |__X-linked reticulate pigmentary disorder 1 rec.
           |__X-linked retinitis pigmentosa and sinorespiratory infections 3 rec.
           |__X-linked spermatogenic failure 4 3 rec.
           |__X-linked spermatogenic failure 5
           |__X-linked spermatogenic failure 6
           |__X-linked spermatogenic failure 8
           |__X-linked thrombophilia due to factor IX defect 1 rec.
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