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Disease	Synonyms	Description
X-linked ichthyosis	X-linked recessive ichthyosis; X-linked placental steryl-sul.. [+] X-linked recessive ichthyosis; X-linked placental steryl-sulphatase deficiency; X-linked ichthyosis with steryl-sulphatase deficiency [-]	An ichthyosis that is characterized by a build-up of scales ..[+] An ichthyosis that is characterized by a build-up of scales on the skin, typically on the back of the neck and trunk resulting from skin cells that do not properly separate from the outermost surface of the skin, and has_material_basis_in X-linked recessive mutation or deletion of the STS gene on chromosome Xp22. [-]
xanthomatosis	xanthelasmatosis	A lipid storage disease that is characterized by the desposi..[+] A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts. [-]
X-linked hyper IgM syndrome	hyperimmunoglobulin M syndrome; hyperimmunoglobulin M syndro.. [+] hyperimmunoglobulin M syndrome; hyperimmunoglobulin M syndrome (disorder) [-]	A hyper IgM syndrome that is characterized by neutropenia an..[+] A hyper IgM syndrome that is characterized by neutropenia and a high rate of gastrointestinal and central nervous system infections and that has_material_basis_in a mutation in the CD40LG gene (300386) on chromosome Xq26. [-]
xeroderma of eyelid		n_a
xanthogranulomatous cholecystitis		n_a
xerophthalmia	Conjunctival xerosis	n_a
xanthogranulomatous pyelonephritis	Xanthogranulomatous pyelonephritis (disorder); Xanthogranulo.. [+] Xanthogranulomatous pyelonephritis (disorder); Xanthogranulomatous pyelonephritis [-]	n_a
X-linked agammaglobulinemia	X-linked agammaglobulinemia (disorder); Bruton agammaglobuli.. [+] X-linked agammaglobulinemia (disorder); Bruton agammaglobulinemia tyrosine kinase deficiency; Bruton's agammaglobulinaemia; Bruton's Sex-Linked Agammaglobulinemia; Bruton's type agammaglobulinemia; BTK deficiency; Bruton-type agammaglobulinemia [-]	An agammaglobulinemia that is that has_material_basis_in a m..[+] An agammaglobulinemia that is that has_material_basis_in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. [-]
xeroderma pigmentosum		A syndrome that is characterized by a deficiency in the abil..[+] A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair. [-]
X-linked hypophosphatemic rickets	X-linked hypophosphatemia; Hypophosphatemia, Vitamin D-Resis.. [+] X-linked hypophosphatemia; Hypophosphatemia, Vitamin D-Resistant Rickets; hypophosphatemic rickets X-linked dominant; Rickets, Vitamin D-Resistant; Vitamin D-Resistant Rickets, X-Linked [-]	A rickets that results has_material_basis in X-linked mutati..[+] A rickets that results has_material_basis in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization. [-]
X-linked sideroblastic anemia with ataxia	X-linked sideroblastic anaemia with ataxia; X-linked siderob.. [+] X-linked sideroblastic anaemia with ataxia; X-linked sideroblastic anaemia and ataxia; X-linked sideroblastic anemia and ataxia; Anemia sideroblastic and spinocerebellar ataxia [-]	A sideroblastic anemia that is characterized by decreased pr..[+] A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene. [-]
X-linked nonsyndromic deafness	X-linked deafness	A nonsyndromic deafness characterized by an X-linked inherit..[+] A nonsyndromic deafness characterized by an X-linked inheritance mode. [-]
X-linked disease		A monogenic disease that has_material_basis_in muations in g..[+] A monogenic disease that has_material_basis_in muations in genes on the X chromosome. [-]
X-linked myopathy with excessive autophagy	XMEA	n_a
X-linked hereditary ataxia		n_a
X-linked severe combined immunodeficiency	XSCID; X-Linked Severe Combined Immunodeficiency; SCID-X1; t.. [+] X-Linked Severe Combined Immunodeficiency; XSCID; SCID-X1; thymic epithelial hypoplasia; gamma chain deficiency [-]	A severe combined immunodeficiency that is a X-linked SCID t..[+] A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells. [-]
xanthinuria	xanthine dehydrogenase deficiency; xanthine oxidase deficien.. [+] xanthine dehydrogenase deficiency; xanthine oxidase deficiency [-]	A purine-pyrimidine metabolic disorder characterized by defi..[+] A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones. [-]
X-linked chondrodysplasia punctata 1	chondrodystrophia calcificans congenita	A chondrodysplasia punctata that is characterized by maxilla..[+] A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, has_material_basis_in X-linked recessive inheritance, has_material_basis_in deficiency of arylsulfatase E. and is associated with associated with vitamin K-related teratogenicity. [-]
X-linked endothelial corneal dystrophy	XECD	A corneal endothelial dystrophy that is characterized by con..[+] A corneal endothelial dystrophy that is characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients. [-]
XFE progeroid syndrome	XPF-ERCC1 progeroid syndrome; XFEPS	A syndrome characterized by aged bird-like facies, lack of s..[+] A syndrome characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly. Additional features include sun-sensitivity from birth, learning disabilities, hearing loss, and visual impairment. It has material basis in homozygous mutation in the ERCC4 gene on chromosome 16p13. [-]
X-linked cleft palate with or without ankyloglossia	X-linked cleft palate and ankyloglossia	A cleft palate that has_material_basis in mutation in the TB..[+] A cleft palate that has_material_basis in mutation in the TBX22 gene on chromosome Xq21. [-]
X-linked lymphoproliferative syndrome 1	XLP1	A lymphoproliferative syndrome characterized by severe immun..[+] A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infection that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_material_basis_in X-linked mutation in the SH2D1A gene on chromosome Xq25. [-]
X-linked lymphoproliferative syndrome 2	XLP2; XIAP deficiency	A lymphoproliferative syndrome characterized by X-linked inh..[+] A lymphoproliferative syndrome characterized by X-linked inheritance, immune dysregulation after viral infect that may include lymphohystiocytosis, hypogammaglobulinemia and/or splenomegaly and that has_material_basis_in mutation in the XIAP gene on chromosome Xq25. [-]
X-linked juvenile retinoschisis 1	X-linked retinoschisis; XLRS; X-linked juvenile retinoschisi.. [+] XLRS; X-linked retinoschisis; X-linked juvenile retinoschisis [-]	A retinoschisis characterized by schisis (splitting) of the ..[+] A retinoschisis characterized by schisis (splitting) of the neural retina leading to reduced visual acuity in males due that has_material_basis_in the RS1 gene on chromosome Xp22. [-]
X-linked intellectual disability-psychosis-macroorchidism syndrome	X-linked mental retardation 79; X-linked mental retardation .. [+] X-linked mental retardation 79; X-linked mental retardation with spasticity; mental retardation with psychosis, pyramidal signs, and macroorchidism; mental retardation, X-linked, syndromic 13; MRXS13; PPM-X; Lindsay-Burn syndrome [-]	A syndromic X-linked intellectual disability characterized b..[+] A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has_material_basis_in mutation in the MECP2 gene on chromosome Xq28. [-]
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	mental retardation, X-linked, syndromic 32; MRXS32	A syndromic X-linked intellectual disability characterized b..[+] A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has_material_basis_in mutation in the CLIC2 gene on chromosome Xq28. [-]
X-linked dyskeratosis congenita	DKCX; Zinsser-Cole-Engman syndrome	A dyskeratosis congenita that has_material_basis_in an X-lin..[+] A dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of DKC1 on chromosome Xq28. [-]
Xia-Gibbs Syndrome	autosomal dominant mental retardation 25; MRD25	An autosomal dominant non-syndromic intellectual disability ..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of AHDC1 on chromosome 1p36.1-p35.3. [-]
X-linked adrenal hypoplasia congenita	congenital adrenal hypoplasia	An adrenal cortical hypofunction that is characterized by a ..[+] An adrenal cortical hypofunction that is characterized by a reduction in adrenal gland function resulting from incomplete development of the adrenal cortex and has_material_basis_in the nuclear receptor NR0B1 (DAX1) gene. [-]
X-linked chronic idiopathic intestinal pseudo-obstruction		An intestinal pseudo-obstruction that has_material_basis_in ..[+] An intestinal pseudo-obstruction that has_material_basis_in mutations in the FLNA gene on chromosome Xq28. [-]
X-linked dystonia-parkinsonism		A focal dystonia characterized by parkinsonism that is frequ..[+] A focal dystonia characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has_material_basis_in an SVA retrotransposon insertion in the intron of the TAF1 gene on chromosome Xq13.1. [-]
X-linked Alport syndrome	nephropathy and deafness, X-linked; ATS	An Alport syndrome that has_material -basis_in mutation in t..[+] An Alport syndrome that has_material -basis_in mutation in the gene encoding the alpha-5 chain of basement membrane collagen type IV (COL4A5). [-]
X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2	X-linked enamel hypoplasia; AIH3; amelogenesis imperfecta t.. [+] X-linked enamel hypoplasia; AIH3; amelogenesis imperfecta type IE X-linked 2; amelogenesis imperfecta 3 hypoplastic type [-]	An amelogenesis imperfecta associated with mutation in a gen..[+] An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region. [-]
xeroderma pigmentosum group A	XP1; XPA; XP group A; xeroderma pigmentosum complementation .. [+] XP group A; XPA; XP1; xeroderma pigmentosum complementation group A; xeroderma pigmentosum 1 [-]	A xeroderma pigmentosum characterized by involvement of the ..[+] A xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has_material_basis_in caused by homozygous or compound heterozygous mutation in the XPA gene on chromosome 9q22. [-]
xeroderma pigmentosum group C	XP3; XPCC; XPC; XP group C; xeroderma pigmentosum III	A xeroderma pigmentosum characterized by increased propensit..[+] A xeroderma pigmentosum characterized by increased propensity to develop malignant melanoma that has_material_basis_in mutation in the XPC gene on chromosome 3p25. [-]
xeroderma pigmentosum group D	XP4; XP8; XPD; XPDC; XPH; xeroderma pigmentosum IV; XP group.. [+] xeroderma pigmentosum IV; XPH; XPDC; XPD; XP8; XP4; XP group H; XP group D; xeroderma pigmentosum VIII [-]	A xeroderma pigmentosum that has_material_basis_in homozygou..[+] A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13. [-]
xeroderma pigmentosum group E	xeroderma pigmentosum V; XPE; XP5; XP group E	A xeroderma pigmentosum characterized by a mild phenotype th..[+] A xeroderma pigmentosum characterized by a mild phenotype that has_material_basis_in homozygous mutation in the DDB2 gene on chromosome 11p11. [-]
xeroderma pigmentosum variant type	xeroderma pigmentosum with normal DNA repair rates; XPV; pho.. [+] XPV; xeroderma pigmentosum with normal DNA repair rates; photosensitivity with defective DNA synthesis [-]	A xeroderma pigmentosum characterized by normal DNA excision..[+] 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 symptoms and..[+] 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 homozygou..[+] 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_material_b..[+] 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 variation in..[+] 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 mutation in ..[+] 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 mutation in ..[+] 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 .. [+] X-linked recessive distal spinal muscular atrophy; X-linked dSMA3; X-linked distal hereditary motor neuropathy type 3; X-linked dHMN3; ATP7A-related distal motor neuropathy; DSMAX; SMAX3 [-]	A spinal muscular atrophy characterized by slowly progressiv..[+] 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 deafness 4	X-linked progressive deafness 6; DFN6; DFNX4; nonsyndromic s.. [+] X-linked progressive deafness 6; DFN6; DFNX4; nonsyndromic sensorineural progressive deafness 6 [-]	An X-linked nonsyndromic deafness characterized by progressi..[+] 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 SMPX on chromosome Xp22.12. [-]
X-linked deafness 3	congenital sensorineural X-linked deafness 4; DFN4; DFNX3	An X-linked nonsyndromic deafness characterized by congenita..[+] 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 conductive a.. [+] 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; mixed deafness with perilymphatic gusher; Nance deafness [-]	An X-linked nonsyndromic deafness characterized by progressi..[+] 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 internal au.. [+] X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome; DFNX7 [-]	An X-linked nonsyndromic deafness characterized by congenita..[+] 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 GPRASP2 on chromosome Xq22.1. [-]
X-linked deafness 1	X-linked sensorineural congenital deafness 2; DFN2; DFNX1	An X-linked nonsyndromic deafness characterized by congenita..[+] 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 PRPS1 on chromosome Xq22.3. [-]

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