FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term X-linked recessive disease ID (Ontology) DOID:0080012 (Human Disease)
Definition A X-linked monogenic disease that has_material_basis_in recessive inheritance.
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  monogenic disease
   |__X-linked monogenic disease
       |__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.
           |   |__Dent disease 1 2 rec.
           |   |__Dent disease 2 1 rec.
           |   |__low molecular weight proteinuria with hypercalciuric nephrocalcinosis 3 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.
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