X-linked recessive hereditary disease

Code	`1162976004`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20210930

2972310023-Methylglutaconic aciduria type 2 disorder

718574003Abruzzo Erickson syndrome disorder

1269423000Adrenomyeloneuropathy disorder

763797003Agenesis of corpus callosum and abnormal genitalia syndrome disorder

722282008Agenesis of corpus callosum, intellectual disability, coloboma, micrognathia syndrome disorder

725168006Aland Islands eye disease disorder

722285005Albinism with deafness syndrome disorder

702327009Allan-Herndon-Dudley syndrome disorder

715342005Alpha thalassaemia X-linked intellectual disability syndrome disorder

12313004Androgen resistance syndrome disorder

720986005Anhidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis, lymphoedema syndrome disorder

702441001Arts syndrome disorder

15228007Atrophia bulborum hereditaria disorder

718196002Beta thalassaemia X-linked thrombocytopenia syndrome disorder

789676005Blue cone monochromatism disorder

21634003Borjeson-Forssman-Lehmann syndrome disorder

778067002Brachytelephalangic chondrodysplasia punctata disorder

718210003Brunner syndrome disorder

230253001Bulbospinal neuronopathy disorder

725589005Bullous dystrophy macular type disorder

773329005CK syndrome disorder

715990006Cerebellum agenesis with hydrocephaly disorder

254082007Chondrodysplasia punctata, X-linked recessive type disorder

75241009Choroideraemia disorder

702354007Christianson syndrome disorder

719808002Chromosome Xp11.3 microdeletion syndrome disorder

718881004Chromosome Xq27.3q28 duplication syndrome disorder

1179285006Combined immunodeficiency due to moesin deficiency disorder

237764004Congenital adrenal hypoplasia, X-linked disorder

733451007Congenital disorder of glycosylation type 1s disorder

733115009Congenital disorder of glycosylation type 1y disorder

773415005Contiguous ABCD1 DXS1357E deletion syndrome disorder

59399004Cutis laxa, x-linked disorder

718714006Deafness and hypogonadism syndrome disorder

721087008Deafness and intellectual disability Martin Probst type syndrome disorder

702423009Deafness-dystonia-optic neuronopathy syndrome disorder

444645005Dent's disease disorder

773670004Distal Xq28 microduplication syndrome disorder

716107009Early onset parkinsonism and intellectual disability syndrome disorder

734017008Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome disorder

1237179007FG syndrome type 1 disorder

1186709006FLNA-related X-linked myxomatous valvular dysplasia disorder

716709002FRAXE intellectual disability syndrome disorder

774151000Ferro-cerebro-cutaneous syndrome disorder

718848000Fried syndrome disorder

819953000Glycogen storage disease due to muscle phosphorylase kinase deficiency disorder

1187462006Glycogen storage disease due to phosphoglycerate kinase 1 deficiency disorder

1336117005Haemophilia B Leyden disorder

707276009Hoyeraal-Hreidarsson syndrome disorder

721231007Hydrocephalus with obesity and hypogonadism syndrome disorder

785726009Hyperekplexia epilepsy syndrome disorder

771223000Infantile epileptic dyskinetic encephalopathy disorder

763741001Intellectual disability, alacrima, achalasia syndrome disorder

722456001Intellectual disability, developmental delay, contracture syndrome disorder

734026006Isolated congenital megalocornea disorder

721875000Juberg Marsidi syndrome disorder

86923008Juvenile retinoschisis disorder

723830005Keratosis follicularis, dwarfism, cerebral atrophy syndrome disorder

716996008L1 syndrome disorder

724178000Laryngeal abductor paralysis with intellectual disability syndrome disorder

438504004Lenz microphthalmia syndrome disorder

10406007Lesch-Nyhan syndrome disorder

719405005Leucoencephalopathy with metaphyseal chondrodysplasia syndrome disorder

79385002Lowe syndrome disorder

702816000MECP2 duplication syndrome disorder

722037004MEHMO syndrome disorder

1187642008Macrocephaly, intellectual disability, left ventricular non compaction syndrome disorder

782739000Male emopamil-binding protein disorder with neurological defect disorder

724172004McLeod neuroacanthocytosis syndrome disorder

59178007Menkes kinky-hair syndrome disorder

717222003Microphthalmia with ankyloblepharon and intellectual disability syndrome disorder

716169009Morse Rawnsley Sargent syndrome disorder

724097003Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome disorder

70737009Mucopolysaccharidosis, MPS-II disorder

773643006Multiple congenital anomalies, hypotonia, seizures syndrome type 2 disorder

723410002N syndrome disorder

723440000Nephrogenic syndrome of inappropriate antidiuresis disorder

722054007Ocular albinism with late-onset sensorineural deafness disorder

78642008Ocular albinism, type I disorder

722106001Oro-facial digital syndrome type 8 disorder

719020006Pallister W syndrome disorder

702412005Partington syndrome disorder

1003881009Pelizaeus-Merzbacher disease in female carrier disorder

1003447007Pelizaeus-Merzbacher disease null syndrome disorder

87607002Pelizaeus-Merzbacher disease, classic form disorder

59636002Pelizaeus-Merzbacher disease, connatal variant disorder

719139003Pettigrew syndrome disorder

723454008Phosphoribosylpyrophosphate synthetase superactivity disorder

723461007Pierre Robin sequence faciodigital anomaly syndrome disorder

719140001Prieto Badia Mulas syndrome disorder

719282008Primary ciliary dyskinesia and retinitis pigmentosa syndrome disorder

699669001Renpenning syndrome disorder

734173003SCARF syndrome disorder

722002002Scholte syndrome disorder

722213009Severe X-linked intellectual disability Gustavson type disorder

722212004Severe X-linked mitochondrial encephalomyopathy disorder

46804001Severe X-linked myotubular myopathy disorder

774149004Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome disorder

771303004Severe neonatal onset encephalopathy with microcephaly disorder

439143004Simpson-Golabi-Behmel syndrome disorder

722478008Skeletal dysplasia with intellectual disability syndrome disorder

702416008Snyder-Robinson syndrome disorder

722209002Spastic paraplegia, intellectual disability, palmoplantar hyperkeratosis syndrome disorder

773304004Spondylometaphyseal dysplasia Golden type disorder

719161008Syndromic X-linked intellectual disability due to JARID1C mutation disorder

718900002Syndromic X-linked intellectual disability type 11 disorder

719160009Syndromic X-linked intellectual disability type 7 disorder

765145001T cell negative B cell positive severe combined immunodeficiency due to gamma chain deficiency disorder

725911008TARP syndrome disorder

719911000Trichodysplasia with amelogenesis imperfecta syndrome disorder

230368002Type III transitional Pelizaeus-Merzbacher disease disorder

48983004X chromosome-linked sideroblastic anaemia disorder

763457000X-linked Charcot-Marie-Tooth disease type 2 disorder

763458005X-linked Charcot-Marie-Tooth disease type 3 disorder

763400005X-linked Charcot-Marie-Tooth disease type 4 disorder

763460007X-linked Charcot-Marie-Tooth disease type 5 disorder

67202007X-linked Ehlers-Danlos syndrome disorder

1156836006X-linked Emery-Dreifuss muscular dystrophy disorder

234533006X-linked agammaglobulinaemia with growth hormone deficiency disorder

782786001X-linked calvarial hyperostosis disorder

771510006X-linked central congenital hypothyroidism with late-onset testicular enlargement disorder

770604006X-linked cerebral, cerebellar, coloboma syndrome disorder

771148008X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome disorder

1351651000X-linked combined immunodeficiency due to SASH3 deficiency disorder

1351642008X-linked common variable immunodeficiency due to SH3KBP1 deficiency disorder

718718009X-linked cone dysfunction syndrome with myopia disorder

722475006X-linked congenital dyserythropoietic anaemia with thrombocytopenia disorder

715426004X-linked corneal dermoid disorder

719836007X-linked distal arthrogryposis multiplex congenita disorder

782759001X-linked dyserythropoietic anaemia with abnormal platelets and neutropenia disorder

698279003X-linked dystonia parkinsonism disorder

718579008X-linked endothelial corneal dystrophy disorder

717223008X-linked epilepsy with learning disability and behaviour disorder syndrome disorder

1167372000X-linked external auditory canal atresia, dilated internal auditory canal, facial dysmorphism syndrome disorder

719838008X-linked hereditary sensory and autonomic neuropathy with deafness disorder

71779008X-linked hydrocephalus syndrome disorder

403835002X-linked hyper-IgM syndrome disorder

72523005X-linked ichthyosis with steryl-sulphatase deficiency disorder

724276006X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome disorder

711481001X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia disorder

719018008X-linked intellectual disability Abidi type disorder

719017003X-linked intellectual disability Armfield type disorder

719811001X-linked intellectual disability Cabezas type disorder

719016007X-linked intellectual disability Cantagrel type disorder

719013004X-linked intellectual disability Cilliers type disorder

726727003X-linked intellectual disability Hedera type disorder

719012009X-linked intellectual disability Miles Carpenter type disorder

726732002X-linked intellectual disability Nascimento type disorder

719011002X-linked intellectual disability Pai type disorder

719010001X-linked intellectual disability Schimke type disorder

718897009X-linked intellectual disability Seemanova type disorder

718905007X-linked intellectual disability Shrimpton type disorder

718908009X-linked intellectual disability Siderius type disorder

718909001X-linked intellectual disability Stevenson type disorder

718910006X-linked intellectual disability Stocco Dos Santos type disorder

718911005X-linked intellectual disability Stoll type disorder

718914002X-linked intellectual disability Van Esch type disorder

719155005X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome disorder

719157002X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behaviour syndrome disorder

783702009X-linked intellectual disability due to GRIA3 mutations disorder

1156584007X-linked intellectual disability hypotonic face syndrome disorder

719826004X-linked intellectual disability with acromegaly and hyperactivity syndrome disorder

718845002X-linked intellectual disability with ataxia and apraxia syndrome disorder

719138006X-linked intellectual disability with cubitus valgus and dysmorphism syndrome disorder

719156006X-linked intellectual disability with hypogammaglobulinaemia and progressive neurological deterioration syndrome disorder

422437002X-linked intellectual disability with marfanoid habitus disorder

719812008X-linked intellectual disability with plagiocephaly syndrome disorder

719810000X-linked intellectual disability with seizure and psoriasis syndrome disorder

773587008X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome disorder

1217228004X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome disorder

1237420004X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome disorder

765471005X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome disorder

732246009X-linked intellectual disability, limb spasticity, retinal dystrophy, arginine vasopressin deficiency disorder

719825000X-linked intellectual disability, macrocephaly, macroorchidism syndrome disorder

1255335006X-linked intellectual disability, short stature, overweight syndrome disorder

717632002X-linked lissencephaly with abnormal genitalia syndrome disorder

77121009X-linked lymphoproliferative syndrome disorder

719813003X-linked mandibulofacial dysostosis disorder

719814009X-linked mendelian susceptibility to mycobacterial disease disorder

1197588008X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome disorder

719815005X-linked myopathy with excessive autophagy disorder

773729007X-linked myopathy with postural muscle atrophy disorder

718849008X-linked neurodegenerative syndrome Bertini type disorder

718847005X-linked neurodegenerative syndrome Hamel type disorder

766818009X-linked non progressive cerebellar ataxia disorder

782785002X-linked osteoporosis with fractures disorder

770757004X-linked parkinsonism with spasticity syndrome disorder

827172005X-linked progressive cerebellar ataxia disorder

718896000X-linked recessive intellectual disability and macrocephaly with ciliary dysfunction syndrome disorder

230556005X-linked recessive sensory neuropathy disorder

715240000X-linked retinal dysplasia disorder

718882006X-linked severe congenital neutropenia disorder

783697000X-linked spastic paraplegia type 16 disorder

723622007X-linked spastic paraplegia type 2 disorder

763370008X-linked spastic paraplegia type 34 disorder

725163002X-linked spasticity, intellectual disability, epilepsy syndrome disorder

719817002X-linked spinocerebellar ataxia type 3 disorder

719818007X-linked spinocerebellar ataxia type 4 disorder

770603000X-linked spondyloepimetaphyseal dysplasia disorder

1156838007X-linked thrombocytopaenia with normal platelets disorder

782877002Xp22.13p22.2 duplication syndrome disorder

764711007Xq12-q13.3 duplication syndrome disorder

X-linked recessive hereditary disease

Parents (1)

Children (202)