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Disease	Synonyms	Description
X-linked ichthyosis	X-linked recessive ichthyosis; X-linked placental .. [+] 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 ..[+] 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		n_a
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 (disorder); Xan.. [+] Xanthogranulomatous pyelonephritis (disorder); Xanthogranulomatous pyelonephritis [-]	n_a
xeroderma pigmentosum		An autosomal recessive disease that is characteriz..[+] An autosomal recessive disease 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; hypophosphatemic rickets X-linked dominant; Rickets, Vitamin D-Resistant; Vitamin D-Resistant Rickets, X-Linked [-]	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. [-]
X-linked sideroblastic anemia with ataxia	X-linked sideroblastic anemia and ataxia; Anemia s.. [+] X-linked sideroblastic anemia and ataxia; Anemia sideroblastic and spinocerebellar ataxia [-]	n_a
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. [-]
X-linked disease		A monogenic disease that has_material_basis_in mua..[+] 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
xanthinuria	xanthine oxidase deficiency; xanthine dehydrogenas.. [+] xanthine oxidase deficiency; xanthine dehydrogenase deficiency [-]	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	chondrodystrophia calcificans congenita	n_a
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 syndrome characterized by aged bird-like facies,..[+] 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..[+] 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 X-..[+] A lymphoproliferative syndrome characterized by X-linked inheritance, severe immune dysregulation after viral infect that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_material_basis_in 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 with spasticity; X-lin.. [+] X-linked mental retardation with spasticity; X-linked mental retardation 79; Lindsay-Burn syndrome; mental retardation with psychosis, pyramidal signs, and macroorchidism; mental retardation, X-linked, syndromic 13; MRXS13; PPM-X [-]	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 DKC1 on chromosome Xq28. [-]
Xia-Gibbs Syndrome	autosomal dominant mental retardation 25; MRD25	An autosomal dominant non-syndromic intellectual d..[+] 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 spermatogenic failure 1	SPGFX1	A Sertoli cell-only syndrome characterized by X-li..[+] A Sertoli cell-only syndrome characterized by X-linked inheritance. [-]
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. [-]
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 mental retardation with cerebellar hypoplasia and distinctive facial appearance		A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by neonatal hypotonia with motor delay but no obvious ataxia, marked strabismus, early-onset complex partial seizures, and moderate to severe mental retardation and has_material_basis_in mutation in the oligophrenin-1 gene. [-]
X-linked spondyloepiphyseal dysplasia tarda		A spondyloepiphyseal dysplasia that is characteriz..[+] A spondyloepiphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has_material_basis_in mutation in the SEDL gene on chromosome Xp22. [-]
X-linked dystonia-parkinsonism		A focal dystonia characterized by parkinsonism tha..[+] 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	ATS; nephropathy and deafness, X-linked	An Alport syndrome that has_material -basis_in mut..[+] 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	XP group A; XP1; XPA; xeroderma pigmentosum comple.. [+] XPA; XP1; XP group A; 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; XP3; XPC; XPCC; xeroderma pigmentosum .. [+] XPCC; XPC; XP3; 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	XP group D; XP group H; XP4; XP8; XPD; XPDC; XPH; .. [+] XPH; XPDC; XPD; XP8; XP4; XP group H; XP group D; xeroderma pigmentosum VIII; xeroderma pigmentosum IV [-]	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	XPE; XP5; XP group E; xeroderma pigmentosum V	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. [-]
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	XPG; XP7; XP group G; xeroderma pigmentosum VII	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	XPBC; XPB; XP group B	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 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 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. [-]

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