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Disease	Synonyms	Description
xeroderma pigmentosum variant type	XPV; xeroderma pigmentosum with normal DNA repair .. [+] XPV; xeroderma pigmentosum with normal DNA repair rates; photosensitivity with defective DNA synthesis [-]	A xeroderma pigmentosum characterized by normal DN..[+] A xeroderma pigmentosum characterized by normal DNA excision repair, but defective postreplication repair that has_material_basis_in mutations in the POLH gene on chromosome 6p21.1. [-]
xeroderma pigmentosum group F	XPF; XP6; XP group F; xeroderma pigmentosum VI	A xeroderma pigmentosum characterized by milder sy..[+] A xeroderma pigmentosum characterized by milder symptoms and later onset of skin cancer that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC4 gene on chromosome 16p13. [-]
xeroderma pigmentosum group G	xeroderma pigmentosum VII; XPG; XP7; XP group G	A xeroderma pigmentosum that has_material_basis_in..[+] A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC5 gene on chromosome 13q33. [-]
xeroderma pigmentosum group B	XP group B; XPBC; XPB	A xeroderma pigmentosum characterized by that has_..[+] A xeroderma pigmentosum characterized by that has_material_basis_in mutation in the ERCC3 gene on chromosome 2q14. [-]
X-linked cone-rod dystrophy 2	X-linked cone dystrophy 2; COD2; CORDX2	A cone-rod dystrophy that has_material_basis_in va..[+] A cone-rod dystrophy that has_material_basis_in variation in the chromosome region Xq27. [-]
X-linked cone-rod dystrophy 3	CORDX3	A cone-rod dystrophy that has_material_basis_in mu..[+] A cone-rod dystrophy that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11. [-]
X-linked cone-rod dystrophy 1	X-linked cone dystrophy 1; COD1; CORDX1	A cone-rod dystrophy that has_material_basis_in mu..[+] A cone-rod dystrophy that has_material_basis_in mutation in an alternative terminal exon 15 of the RPGR gene on chromosome Xp11. [-]
X-linked distal spinal muscular atrophy 3	X-linked recessive distal spinal muscular atrophy; .. [+] X-linked recessive distal spinal muscular atrophy; X-linked dHMN3; X-linked dSMA3; X-linked distal hereditary motor neuropathy type 3; ATP7A-related distal motor neuropathy; DSMAX; SMAX3 [-]	A spinal muscular atrophy characterized by slowly ..[+] A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has_material_basis_in homozygous or hemizygous mutation in ATP7A on Xq21.1. [-]
X-linked congenital myopathy with fiber-type disproportion	CFTDX	A congenital fiber-type disproportion characterize..[+] A congenital fiber-type disproportion characterized by bilateral ptosis, facial weakness, impaired suckling, generalized hypotonia, and respiratory insufficiency that has_material_basis_in mutation in the chromosome region Xq13.1-q22.1. [-]
X-linked deafness 4	X-linked progressive deafness 6; DFN6; DFNX4; nons.. [+] X-linked progressive deafness 6; DFN6; DFNX4; nonsyndromic sensorineural progressive deafness 6 [-]	An X-linked nonsyndromic deafness characterized by..[+] An X-linked nonsyndromic deafness characterized by progressive hearing loss with postlingual onset and earlier onset in males compared to females that has_material_basis_in mutation in the SMPX gene on chromosome Xp22.12. [-]
X-linked deafness 3	congenital sensorineural X-linked deafness 4; DFN4.. [+] congenital sensorineural X-linked deafness 4; DFN4; DFNX3 [-]	An X-linked nonsyndromic deafness characterized by..[+] An X-linked nonsyndromic deafness characterized by congenital, bilateral, profound and sensorineural hearing loss in males and bilateral, mild to moderate high frequency sensorineural hearing impairment with later onset in heterozygous females that has_material_basis_in mutation in a region on chromosome Xp21.2. [-]
X-linked deafness 2	X-linked stapes gusher syndrome; X-linked mixed co.. [+] X-linked stapes gusher syndrome; X-linked mixed conductive and sensorineural hearing loss; X-linked mixed conductive and sensorineural deafness; X-linked mixed conductive and neurosensory hearing loss; X-linked mixed conductive and neurosensory deafness; X-linked deafness type 2; conductive deafness 3 with stapes fixation; conductive deafness with stapes fixation; DFN3; DFNX2; Nance deafness; mixed deafness with perilymphatic gusher [-]	An X-linked nonsyndromic deafness characterized by..[+] An X-linked nonsyndromic deafness characterized by progressive conductive and sensorineural hearing loss and pathognomonic inner ear anomalies that has_material_basis_in hemizygous or homozygous mutation in POU3F4 or upstream regulatory elements of this gene on chromosome Xq21.1. [-]
X-linked deafness 7	X-linked external auditory canal atresia-dilated i.. [+] X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome; DFNX7 [-]	An X-linked nonsyndromic deafness characterized by..[+] An X-linked nonsyndromic deafness characterized by congenital, bilateral, mixed or conductive hearing loss and other ear anomalies that has_material_basis_in homozygous or hemizygous mutation in the GPRASP2 gene on chromosome Xq22.1. [-]
X-linked deafness 1	X-linked sensorineural congenital deafness 2; DFN2.. [+] X-linked sensorineural congenital deafness 2; DFN2; DFNX1 [-]	An X-linked nonsyndromic deafness characterized by..[+] An X-linked nonsyndromic deafness characterized by congenital profound sensorineural hearing loss in males and mild to moderate high-frequency hearing loss in heterozygous females that has_material_basis_in mutation in the PRPS1 gene on chromosome Xq22.3. [-]
X-linked deafness 6	DFNX6	An X-linked nonsyndromic deafness characterized by..[+] An X-linked nonsyndromic deafness characterized by severe bilateral sensorineural hearing loss with cochlear malformation in males and mild to moderate hearing loss in females with later onset that has_material_basis_in mutation in the COL4A6 gene on chromosome Xq22.3. [-]
X-linked deafness 5	X-linked auditory neuropathy with peripheral senso.. [+] X-linked auditory neuropathy with peripheral sensory neuropathy type 1; X-linked HSAN with deafness; X-linked auditory neuropathy 1 with peripheral sensory neuropathy; DFNX5; AUNX1 [-]	A neuropathy characterized by childhood onset of a..[+] A neuropathy characterized by childhood onset of auditory neuropathy and later onset of distal sensory impairment due to diffuse peripheral neuropathy that has_material_basis_in hemizygous or homozygous mutation in the AIFM1 gene on chromosome Xq26.1. [-]
X-linked cardiac valvular dysplasia	XMVD; CVD1; Dystrophie valvulaire associee a FLNA; .. [+] XMVD; CVD1; Dystrophie valvulaire associee a FLNA; EDS 5; Ehlers-Danlos syndrome, type 5; Filamin A-related X-linked myxomatous valvular dysplasia; FLNA-related valvular dystrophy; FLNA-related X-linked myxomatous valvular dysplasia [-]	A heart valve disease characterized by multivalvul..[+] A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in the FLNA gene on chromosome Xq28. [-]
X-linked VACTERL association	VACTERL association, X-linked with or without hydr.. [+] VACTERL association, X-linked with or without hydrocephalus; VACTERLX [-]	A VACTERL association that has_material_basis_in m..[+] A VACTERL association that has_material_basis_in mutation in the ZIC3 gene on chromosome Xq26.3 or the FANCB gene on chromosome Xp22.2. [-]
X-linked thrombocytopenia with beta-thalassemia	XLTT; beta-thalassemia-X-linked thrombocytopenia s.. [+] XLTT; beta-thalassemia-X-linked thrombocytopenia syndrome; GATA1-related X-linked cytopenia; thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis [-]	A hematopoietic system disease characterized by va..[+] A hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that has_material_basis_in homozygous or hemizygous missense mutation in the DNA binding domain of the GATA1 gene on chromosome Xp11.23. [-]
X-linked properdin deficiency	CFPD; complement factor properdin deficiency	A complement deficiency characterized by decreased..[+] A complement deficiency characterized by decreased plasma levels of complement factor properdin and increased susceptibility to Neisseria species infections that has_material_basis_in homozygous or hemizygous mutation in PFC on chromosome Xp11.23. [-]
X-linked panhypopituitarism	PHPX; pituitary dwarfism IV	A panhypopituitarism that has_material_basis_in du..[+] A panhypopituitarism that has_material_basis_in duplications in the SOX3 gene on chromosome Xq27.1. [-]
X-linked nephrolithiasis type I	X-linked recessive urolithiasis type 1; XRN; X-lin.. [+] XRN; X-linked recessive urolithiasis type 1; X-linked nephrolithiasis with renal failure; nephrolithiasis 1; NPHL1; nephrolithiasis X-linked recessive type 1 [-]	A renal tubular transport disease characterized by..[+] A renal tubular transport disease characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency with absence of rickets that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.23. [-]
X-linked spinal muscular atrophy 2	X-linked spinal muscular atrophy type 2; X-linked .. [+] X-linked spinal muscular atrophy type 2; X-linked distal arthrogryposis multiplex congenita; infantile-onset X-linked spinal muscular atrophy; SMAX2; spinal muscular atrophy with arthrogryposis [-]	A spinal muscular atrophy characterized by neonata..[+] A spinal muscular atrophy characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures associated with loss of anterior horn cells and infantile death that has_material_basis_in hemizygous mutation in the UBA1 gene on chromosome Xp11.3. [-]
X-linked cerebellar ataxia		A hereditary ataxia characterized by X-linked inhe..[+] A hereditary ataxia characterized by X-linked inheritance. [-]
X-linked spinocerebellar ataxia 1	X-linked progressive cerebellar ataxia; SCAX1	An X-linked cerebellar ataxia characterized by hyp..[+] An X-linked cerebellar ataxia characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements that has_material_basis_in hemizygous mutation in the ATP2B3 gene on chromosome Xq28. [-]
X-linked spinocerebellar ataxia 2	cerebellar ataxia with extrapyramidal involvement .. [+] cerebellar ataxia with extrapyramidal involvement early-onset; SCAX2 [-]	An X-linked cerebellar ataxia characterized by inf..[+] An X-linked cerebellar ataxia characterized by infantile onset of ataxia, severe atrophy of the cerebellum, diffuse small cysts, pale inferior olives, and gliosis with X-linked inheritance. [-]
X-linked spinocerebellar ataxia 3	X-linked spinocerebellar ataxia type 3; X-linked a.. [+] X-linked spinocerebellar ataxia type 3; X-linked ataxia-deafness syndrome; SCAX3 [-]	An X-linked cerebellar ataxia characterized by ons..[+] An X-linked cerebellar ataxia characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy with X-linked inheritance. [-]
X-linked spinocerebellar ataxia 4	X-linked spinocerebellar ataxia type 4; X-linked a.. [+] X-linked spinocerebellar ataxia type 4; X-linked ataxia-dementia syndrome; SCAX4 [-]	An X-linked cerebellar ataxia characterized by ata..[+] An X-linked cerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia with X-linked inheritance. [-]
X-linked spinocerebellar ataxia 5	X-linked non progressive cerebellar ataxia; SCAX5; .. [+] X-linked non progressive cerebellar ataxia; SCAX5; Spinocerebellar Ataxia, X-Linked 5 [-]	An X-linked cerebellar ataxia characterized by neo..[+] An X-linked cerebellar ataxia characterized by neonatal hypotonia, delayed motor development, nonprogressive ataxia, nystagmus, and dysarthria that has_material_basis_in hemizygous mutation in region of chromosome Xq25-q27.1. [-]
X-linked reticulate pigmentary disorder	X-linked reticulate pigmentary disorder with syste.. [+] X-linked reticulate pigmentary disorder with systemic manifestations; Partington disease; PDR [-]	A pigmentation disease characterized by early onse..[+] A pigmentation disease characterized by early onset of recurrent respiratory infections, failure to thrive resulting from inflammatory gastroenteritis or colitis, and reticular pigmentation abnormalities of the skin in hemizygous males and only pigmentary abnormalities along the lines of Blaschko in heterozygous females that has_material_basis_in mutation in the POLA1 gene on chromosome Xp22.1-p21.3. [-]
X-linked intellectual developmental disorder 108	MRX108	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by global developmental delay, delayed walking, and poor speech acquisition that has_material_basis_in hemizygous mutation in the SLC9A7 gene on chromosome Xp11.3. [-]
X-linked congenital hemolytic anemia		A congenital hemolytic anemia characterized by mil..[+] A congenital hemolytic anemia characterized by mild congenital hemolytic anemia without morphologic red cell abnormalities that has_material_basis_in hemizygous mutation in the ATP11C gene on chromosome Xq27.1. [-]
X-linked congenital bilateral absence of vas deferens	CBAVDX	A congenital bilateral absence of vas deferens tha..[+] A congenital bilateral absence of vas deferens that has_material_basis_in mutation in the ADGRG2 gene on chromosome Xp22.13. [-]
X-linked thrombophilia due to factor IX defect	THPH8	A thrombophilia characterized by normal levels of ..[+] A thrombophilia characterized by normal levels of F9 antigen, but very high levels of F9 activity that has_material_basis_in hemizygous gain of function mutation in F9 on chromosome Xq27.1. [-]
X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques	X-linked Olmsted syndrome; OLMSX	A mutilating palmoplantar keratoderma with periori..[+] A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in hemizygous mutation in the MBTPS2 gene on chromosome Xp22.12. [-]
X-linked intellectual disability-short stature-overweight syndrome	X-linked mental retardation 35; X-linked mental re.. [+] X-linked mental retardation 35; X-linked mental retardation 12; MRX12; MRX35 [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability often associated with speech delay, short stature, elevated body mass index, and a truncal obesity pattern in older males that has_material_basis_in hemizygous mutation in the THOC2 gene on chromosome Xq25. [-]
X-Linked immunodeficiency 74	X-linked immunodeficiency 74,COVID-19-related; IMD.. [+] X-linked immunodeficiency 74,COVID-19-related; IMD74; respiratory insufficiency due to SARS-CoV-2 viral infection; TLR7 deficiency [-]	A T cell deficiency characterized by severe respir..[+] A T cell deficiency characterized by severe respiratory insufficiency in response to infection with the COVID19 coronavirus and impaired signaling through the TLR7 pathway that has_material_basis_in hemizygous mutation in the TLR7 gene on chromosome Xp22.2. [-]
X-linked parkinsonism-spasticity syndrome	XPDS; X-linked Parkinsonism with spasticity	A movement disease characterized by slowly progres..[+] A movement disease characterized by slowly progressive development of parkinsonian features and variably penetrant spasticity that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11.4. [-]
X-linked epilepsy with variable learning disabilities and behavior disorders	X-linked epilepsy-learning disabilities-behavior d.. [+] X-linked epilepsy-learning disabilities-behavior disorders syndrome [-]	An epilepsy characterized by epilepsy with variabl..[+] An epilepsy characterized by epilepsy with variable learning disabilities and behavioral disorders in some patients that has_material_basis_in heterozygous or hemizygous mutation in the SYN1 gene on chromosome Xp11.3-p11.2. [-]
X-linked retinitis pigmentosa and sinorespiratory infections	primary ciliary dyskinesia-retinitis pigmentosa sy.. [+] primary ciliary dyskinesia-retinitis pigmentosa syndrome [-]	A syndrome characterized by retinitis pigmentosa a..[+] A syndrome characterized by retinitis pigmentosa and recurrent respiratory infections with nasal ciliary abnormalities and hearing loss in some patients that has_material_basis_in mutation in the RPGR gene on chromosome Xp11.4. [-]
X-linked severe congenital neutropenia	XLN; SCNX	A severe congenital neutropenia that has_material_..[+] A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23. [-]
X-linked spondyloepimetaphyseal dysplasia	SEMD X-linked; SEMDX	A spondyloepimetaphyseal dysplasia that has_materi..[+] A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28. [-]
X-linked dyserythropoietic anemia	X-linked dyserythropoietic anemia with abnormal pl.. [+] X-linked dyserythropoietic anemia with abnormal platelets and neutropenia; X-linked anemia with/without neutropenia and/or platelet abnormalities [-]	An anemia characterized by early-onset anemia and ..[+] An anemia characterized by early-onset anemia and bone marrow erythroid hypoplasia with variable neutropenia that has_material_basis_in hemizygous splice-site mutation in the GATA1 gene on chromosome Xp11.23. This mutaion impairs expression of the long isoform of GATA1 but expression of a short form is seen. [-]
X-linked lissencephaly 2	XLIS2; XLAG (X-linked lissencephaly with abnormal .. [+] XLIS2; XLAG (X-linked lissencephaly with abnormal genitalia) syndrome; XLAG; X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome; X-linked lissencephaly with ambiguous genitalia; X-linked lissencephaly with abnormal genitalia [-]	A lissencephaly characterized by structural brain ..[+] A lissencephaly characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia that has_material_basis_in mutation in ARX on chromosome Xp21.3. [-]
X-linked lissencephaly 1	XLIS1; lissencephaly type 1 due to doublecortin ge.. [+] XLIS1; lissencephaly type 1 due to doublecortin gene mutation [-]	A lissencephaly characterized by classic lissencep..[+] A lissencephaly characterized by classic lissencephaly and intellectual disability in males that has_material_basis_in mutation in DCX on chromosome Xq23. [-]
X-linked spermatogenic failure 3	SPGFX3	A spermatogenic failure characterized by asthenote..[+] A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the flagella that has_material_basis_in hemizygous mutation in the CFAP47 gene on chromosome Xp21.1. [-]
spinal accessory nerve neoplasm	XIth Cranial nerve tumors; neoplasm of accessory n.. [+] XIth Cranial nerve tumors; neoplasm of accessory nerve (disorder); neoplasm of accessory nerve [-]	n_a
combined T cell and B cell immunodeficiency	X-linked combined immunodeficiency; combined immun.. [+] X-linked combined immunodeficiency; combined immunodeficiency; Congenital Combined Immunodeficiency [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by impaired T cell-mediated immunity and impaired B cell mediated humoral immunity. [-]
Lesch-Nyhan syndrome	X-linked hyperuricemia; X-linked hyperuricemia (di.. [+] X-linked hyperuricemia; X-linked hyperuricemia (disorder) [Ambiguous]; deficiency of IMP pyrophosphorylase; HG-PRT deficiency; Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder); Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) [Ambiguous]; Hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome]); Lesch-Nyhan syndrome (disorder); Complete hypoxanthine-guanine phosphoribosyltransferase deficiency; hypoxanthine guanine phosphoribosyltransferase deficiency; Hypoxanthine-guanine-phosphoribosyltransferase deficiency; Hypoxanthine-guanine phosphoribosyltransferase deficiency; Lesch - Nyhan syndrome [-]	A purine-pyrimidine metabolic disorder characteriz..[+] A purine-pyrimidine metabolic disorder characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips that has_material_basis_in mutation in the hypoxanthine guanine phosphoribosyltransferase (HPRT) gene on chromosome Xq26. [-]
Klinefelter syndrome	XXY syndrome; XXY trisomy; Klinefelter syndrome; H.. [+] XXY trisomy; XXY syndrome; Klinefelter syndrome; Hypogonadotropic Hypogonadism; 47, XXY; Klinefelter's syndrome [-]	A chromosomal duplication syndrome that is charact..[+] A chromosomal duplication syndrome that is characterized by infertility and that has_material_basis_in an extra X chromosome in cells in men. [-]

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