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Disease	Synonyms	Description	Articles	Phenotypes
X-linked ichthyosis	X-linked placental steryl-sulphatase deficiency; X.. [+] X-linked placental steryl-sulphatase deficiency; X-linked recessive ichthyosis; X-linked ichthyosis with steryl-sulphatase deficiency [-]	An ichthyosis that is characterized by a build-up ..[+] 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 t..[+] 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; hyperimmunoglobuli.. [+] hyperimmunoglobulin M syndrome; hyperimmunoglobulin M syndrome (disorder) [-]	A hyper IgM syndrome that is characterized by neut..[+] 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. [-]
X-linked Aarskog syndrome	Aarskog-Scott syndrome; faciogenital dysplasia; Gr.. [+] Aarskog-Scott syndrome; faciogenital dysplasia; Greig's syndrome [-]	A syndromic X-linked intellectual disability affec..[+] A syndromic X-linked intellectual disability affects a person's height, muscles, skeleton, genitals, and appearance of the face. [-]
xeroderma of eyelid		n_a
xanthogranulomatous cholecystitis		A cholecystitis characterized by nodules containin..[+] A cholecystitis characterized by nodules containing lipid-laden macrophages. [-]
xerophthalmia	Conjunctival xerosis	A dry eye syndrome that is characterized by conjun..[+] A dry eye syndrome that is characterized by conjunctival and corneal xerosis, Bitot's spots, keratomalacia, nyctalopia, and retinopathy resulting from vitamin A deficiency. [-]
xanthogranulomatous pyelonephritis	Xanthogranulomatous pyelonephritis; Xanthogranulom.. [+] Xanthogranulomatous pyelonephritis; Xanthogranulomatous pyelonephritis (disorder) [-]	n_a
X-linked agammaglobulinemia	X-linked agammaglobulinemia (disorder); Bruton aga.. [+] X-linked agammaglobulinemia (disorder); Bruton agammaglobulinemia tyrosine kinase deficiency; Bruton's Sex-Linked Agammaglobulinemia; Bruton's type agammaglobulinemia; Bruton's agammaglobulinaemia; Bruton-type agammaglobulinemia; BTK deficiency; Bruton disease [-]	An agammaglobulinemia that is that has_material_ba..[+] 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 i..[+] 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 dominant hypophosphatemic rickets	X-linked hypophosphatemia; Hypophosphatemia, Vitam.. [+] X-linked hypophosphatemia; Hypophosphatemia, Vitamin D-Resistant Rickets; Rickets, Vitamin D-Resistant; Vitamin D-Resistant Rickets, X-Linked; hypophosphatemic rickets X-linked dominant [-]	A rickets has_material_basis_in X-linked mutations..[+] A rickets 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. [-]	1 articles
X-linked sideroblastic anemia with ataxia	X-linked sideroblastic anaemia with ataxia; X-link.. [+] X-linked sideroblastic anaemia with ataxia; X-linked sideroblastic anaemia and ataxia; X-linked sideroblastic anemia and ataxia; Anemia sideroblastic and spinocerebellar ataxia; Anemia, sideroblastic, spinocerebellar ataxia [-]	A sideroblastic anemia that is characterized by de..[+] 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-link..[+] A nonsyndromic deafness characterized by an X-linked inheritance mode. [-]	1 articles
X-linked monogenic disease		A monogenic disease that has_material_basis_in mut..[+] A monogenic disease that has_material_basis_in mutations in genes on the X chromosome. [-]	14 articles	18 matches
X-linked myopathy with excessive autophagy	XMEA	A myopathy that is characterized by childhood onse..[+] A myopathy that is characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles in males between 5 and 10 years old, has_material_basis_in mutation in the VMA21 gene on chromosome Xq28. [-]
X-linked hereditary ataxia		n_a	1 articles
X-linked severe combined immunodeficiency	XSCID; X-Linked Severe Combined Immunodeficiency; .. [+] X-Linked Severe Combined Immunodeficiency; XSCID; SCID-X1; thymic epithelial hypoplasia; gamma chain deficiency [-]	A severe combined immunodeficiency that is a X-lin..[+] 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 oxidas.. [+] xanthine dehydrogenase deficiency; xanthine oxidase deficiency; classic xanthinuria; hereditary xanthinuria [-]	A purine-pyrimidine metabolic disorder characteriz..[+] 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 ..[+] 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 characteri..[+] 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 progeroid syndrome that is characterized by aged..[+] A progeroid syndrome that is characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly and that has_material_basis_in homozygous mutation in the ERCC4 gene on chromosome 16p13. [-]	1 articles
X-linked cleft palate with or without ankyloglossia	X-linked cleft palate and ankyloglossia	A cleft palate that has_material_basis_in mutation..[+] 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 se..[+] 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-..[+] 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 re.. [+] XLRS; X-linked retinoschisis; X-linked juvenile retinoschisis [-]	A retinoschisis characterized by schisis (splittin..[+] 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 re.. [+] 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 chara..[+] 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.. [+] mental retardation, X-linked, syndromic 32; MRXS32 [-]	A syndromic X-linked intellectual disability chara..[+] 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_i..[+] A dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of the DKC1 gene on chromosome Xq28. [-]
Xia-Gibbs Syndrome	MRD25; autosomal dominant mental retardation 25	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AHDC1 gene on chromosome 1p36.1-p35.3. [-]
X-linked spermatogenic failure 2	SPGFX2	A spermatogenic failure that is characterized by m..[+] A spermatogenic failure that is characterized by meiotic arrest of spermatocytes and mixed testicular atrophy that has_material_basis_in X-linked inheritance of mutation in the TEX11 gene on chromosome Xq13. [-]
X-linked chronic granulomatous disease	X-linked chronic cytochrome b-negative granulomato.. [+] X-linked chronic cytochrome b-negative granulomatous disease; CDGX [-]	A chronic granulomatous disease characterized by X..[+] A chronic granulomatous disease characterized by X-linked inheritance that has_material_basis_in mutation in the CYBB gene on chromosome Xp21.1-p11.4. [-]
X-linked Emery-Dreifuss muscular dystrophy 6	XMPMA; EDMD6; Emery-Dreifuss muscular dystrophy 6,.. [+] XMPMA; EDMD6; Emery-Dreifuss muscular dystrophy 6, X-linked; myopathy, X-linked, with postural muscle atrophy [-]	An Emery-Dreifuss muscular dystrophy that has_mate..[+] An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of the FHL1 gene on chromosome Xq26.3. [-]
xanthinuria type I	XAN1	A xanthinuria characterized by isolated deficiency..[+] A xanthinuria characterized by isolated deficiency of xanthine dehydrogenase that has_material_basis_in homozygous or compound heterozygous mutation in the XDH gene on chromosome 2p23. [-]
xanthinuria type II	XAN2	A xanthinuria characterized by deficiency of xanth..[+] A xanthinuria characterized by deficiency of xanthine dehydrogenase and aldehyde oxidase that has_material_basis_in homozygous or compound heterozygous mutation in the MOCOS gene on chromosome 18q12. [-]
X-linked adrenal hypoplasia congenita	congenital adrenal hypoplasia	An adrenal cortical hypofunction that is character..[+] 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..[+] An intestinal pseudo-obstruction that has_material_basis_in mutations in the FLNA gene on chromosome Xq28. [-]
X-linked keratosis follicularis spinulosa decalvans		A keratosis follicularis spinulosa decalvans that ..[+] A keratosis follicularis spinulosa decalvans that has_material_basis_in mutation in the MBTPS2 gene. [-]
X-linked warfarin sensitivity		An inherited metabolic disorder that is characteri..[+] An inherited metabolic disorder that is characterized by bleeding complications when given warfarin for anticoagulation and that has_material_basis_in variation in the F9 gene on chromosome Xq27. [-]
X-linked intellectual developmental disorder 109	fragile site on chromosome Xq28; Fragile XE syndro.. [+] fragile site on chromosome Xq28; Fragile XE syndrome [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior and that has_material_basis_in disruption of the FMR2 gene (AFF2), either by expansion of a CCG repeat in the 5-prime untranslated region or by deletion. [-]
X-linked central diabetes insipidus	X-linked neurohypophyseal diabetes insipidus	A central diabetes insipidus that has_material_bas..[+] A central diabetes insipidus that has_material_basis_in X-linked inheritance. [-]
X-linked nephrogenic diabetes insipidus	nephrogenic diabetes insipidus type 1	A nephrogenic diabetes insipidus that is character..[+] A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in a mutation in the gene encoding the vasopressin V2 receptor (AVPR2) on chromosome Xq28. [-]
X-linked mental retardation Gustavson type	mental retardation with optic atrophy, deafness an.. [+] mental retardation with optic atrophy, deafness and seizures [-]	A syndromic X-linked intellectual disability that ..[+] A syndromic X-linked intellectual disability that is characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness, severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death. [-]
X-linked dystonia-parkinsonism		A focal dystonia that is characterized by parkinso..[+] A focal dystonia that is characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has_material_basis_in X-linked recessive inheritance of SVA retrotransposon insertion in the intron of the TATA-box binding protein associated factor 1 gene (TAF1) on chromosome Xq13.1. [-]
X-linked Alport syndrome	nephropathy and deafness, X-linked; ATS	An Alport syndrome that has_material_basis_in muta..[+] 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 imp.. [+] X-linked enamel hypoplasia; AIH3; amelogenesis imperfecta type IE X-linked 2; amelogenesis imperfecta 3 hypoplastic type [-]	An amelogenesis imperfecta associated with mutatio..[+] An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region. [-]
X-linked dilated cardiomyopathy	CMD3B; DMD-related dilated cardiomyopathy	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the gene encoding dystrophin (DMD) on chromosome Xp21, without skeletal muscle weakness or wasting. [-]
xeroderma pigmentosum group A	XP1; XPA; XP group A; xeroderma pigmentosum comple.. [+] XP group A; XPA; XP1; xeroderma pigmentosum complementation group A; xeroderma pigmentosum 1 [-]	A xeroderma pigmentosum characterized by involveme..[+] 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	XP group C; XPC; XPCC; XP3; xeroderma pigmentosum .. [+] XP3; XPCC; XPC; XP group C; xeroderma pigmentosum III [-]	A xeroderma pigmentosum characterized by increased..[+] 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	XP8; XPD; XPDC; XPH; xeroderma pigmentosum IV; XP4.. [+] 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..[+] 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 ph..[+] A xeroderma pigmentosum characterized by a mild phenotype that has_material_basis_in homozygous mutation in the DDB2 gene on chromosome 11p11. [-]

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