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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 [-]	n_a
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) [-]	n_a
xeroderma of eyelid		n_a
xanthogranulomatous cholecystitis		n_a
xerophthalmia	Conjunctival xerosis	n_a
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 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 that results has_material_basis in X-lin..[+] 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 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
X-linked sideroblastic anemia	XLSA	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	n_a
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 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 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. [-]
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. [-]
spinal accessory nerve neoplasm	XIth Cranial nerve tumors; neoplasm of accessory n.. [+] XIth Cranial nerve tumors; neoplasm of accessory nerve (disorder) [-]	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 that involves m..[+] A primary immunodeficiency disease that involves multiple components of the immune system, including both humoral immunity and cell-mediated immunity. [-]
Lesch-Nyhan syndrome	X-linked hyperuricemia (disorder) [Ambiguous]; Com.. [+] X-linked hyperuricemia (disorder) [Ambiguous]; Complete hypoxanthine-guanine phosphoribosyltransferase deficiency; deficiency of IMP pyrophosphorylase; HG-PRT deficiency; hypoxanthine guanine phosphoribosyltransferase deficiency; Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder); Hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) [Ambiguous]; Hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome]); Lesch - Nyhan syndrome; Lesch-Nyhan syndrome (disorder) [-]	n_a
Klinefelter's syndrome	XXY syndrome; XXY trisomy; Hypogonadotropic Hypogo.. [+] XXY trisomy; XXY syndrome; Hypogonadotropic Hypogonadism; Klinefelter syndrome [-]	n_a
Turner syndrome	XO syndrome; Bonnevie-Ullrich syndrome; Gonadal dy.. [+] XO syndrome; Bonnevie-Ullrich syndrome; Gonadal dysgenesis - Turner; Karyotype 45, X; Monosomy X; monosomy X syndrome [-]	n_a
juvenile xanthogranuloma	Xanthoma neviforme; Multiple eruptive juvenile xan.. [+] Xanthoma neviforme; Multiple eruptive juvenile xanthogranuloma; Naevoxanthoendothelioma [-]	n_a
inflammatory MFH	Xanthosarcoma	n_a
adrenoleukodystrophy	X-linked adrenoleukodystrophy; ALD; Bronze Schilde.. [+] X-linked adrenoleukodystrophy; ALD; Bronze Schilder disease; diffuse cerebral sclerosis of Schilder; diffuse sclerosis; Encephalitis periaxialis concentrica; Encephalitis periaxialis, Schilder's; Schilder disease; Schilder's disease; Siemerling-Creutzfeldt Disease; SUDANOPHILIC CEREBRAL SCLEROSIS [-]	A leukodystrophy that disrupts the breakdown of ve..[+] A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death. [-]

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