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Disease	Synonyms	Description	Articles	Phenotypes
White-Sutton syndrome	autosomal dominant mental retardation 37; MRD37; W.. [+] autosomal dominant mental retardation 37; MRD37; WHSUS; [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the POGZ gene on chromosome 1q21.3. [-]
Whitewater Arroyo hemorrhagic fever		A viral infectious disease that is a hemorrhagic f..[+] A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Mammarenavirus whitewaterense, which is transmitted_by white-throated woodrats (Neotoma albigula). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, and has_symptom hemorrhagic manifestations. [-]
Wiedemann-Rautenstrauch syndrome	Neonatal progeroid syndrome; PROGEROID SYNDROME, N.. [+] Neonatal progeroid syndrome; PROGEROID SYNDROME, NEONATAL; [-]	A progeroid syndrome that is characterized by intr..[+] A progeroid syndrome that is characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment and that has_material_basis_in compound heterozygous mutation in the POLR3A gene on chromosome 10q22. [-]
Williams-Beuren syndrome	Fanconi Schlesinger syndrome; WBS;	A syndrome that is characterized by mild to modera..[+] A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23. [-]	1 articles
Wilson disease	hepatolenticular degeneration; Westphal pseudoscle.. [+] hepatolenticular degeneration; Westphal pseudosclerosis; Westphal-Strumpell syndrome; Cerebral pseudosclerosis; Wilson's disease; [-]	A metal metabolism disease that is characterized b..[+] A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes. [-]
Wilson-Turner syndrome	mental retardation, X-linked, syndromic 6; mental .. [+] mental retardation, X-linked, syndromic 6; mental retardation, X-linked, with gynecomastia and obesity; WTS; X-linked intellectual disability-gynecomastia-obesity syndrome; MRXS6; [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature that has_material_basis_in hemizygous mutation in the LAS1L gene on chromosome Xq12. [-]
Winchester syndrome		A syndrome that is characterized by a loss of bone..[+] A syndrome that is characterized by a loss of bone tissue particularly in the hands and feet. [-]
Wiskott-Aldrich syndrome	Wiskott syndrome;	A syndrome that is characterized by abnormal immun..[+] A syndrome that is characterized by abnormal immune system function and a reduced ability to form blood clots resulting from a decrease in the number and size of blood cell fragments involved in clotting (microthrombocytopenia). [-]
Wissler-Fanconi syndrome	Wissler syndrome; Wissler-Fanconi syndrome (findin.. [+] Wissler syndrome; Wissler-Fanconi syndrome (finding); Wissler's subsepsis allergica; Wissler's syndrome; [-]	A syndrome that is characterized by true sepsis, a..[+] A syndrome that is characterized by true sepsis, acute rheumatic fever, rheumatoid arthritis, and adult onset Still’s disease. [-]
Wolcott-Rallison syndrome		A syndrome that is characterized by permanent neon..[+] A syndrome that is characterized by permanent neonatal diabetes mellitus with multiple epiphyseal dysplasia, osteoporosis, growth retardation and frequently hepatic and renal dysfunction that has_material_basis_in homozygous mutation in the eukaryotic translation initiation factor 2 alpha kinase 3 (EIF2AK3) gene on chromosome 2p11.2. [-]
Wolf-Hirschhorn syndrome	PITT SYNDROME; Pitt-Rogers-Danks Syndrome; 4p dele.. [+] PITT SYNDROME; Pitt-Rogers-Danks Syndrome; 4p deletion syndrome; chromosome 4p16.3 deletion syndrome; [-]	A chromosomal deletion syndrome that is characteri..[+] A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a hemizygous deletion of chromosome 4p16.3. [-]	5 articles	19 matches
Wolff-Parkinson-White syndrome	Anomalous A-V excitation; anomalous atrioventricul.. [+] Anomalous A-V excitation; anomalous atrioventricular excitation; Wolff-Parkinson-White pattern (finding); Wolff-Parkinson-White pattern; [-]	n_a
Wolffian adnexal neoplasm		n_a
Wolffian duct adenocarcinoma		n_a
Wolffian duct adenoma	Mesonephric adenoma; Mesonephroma, benign (morphol.. [+] Mesonephric adenoma; Mesonephroma, benign (morphologic abnormality); Wolffian duct adenoma; benign mesonephroma; Mesonephroma, benign; [-]	A reproductive organ benign neoplasm that derives_..[+] A reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the region of the Wolffian duct. [-]
Wolfram syndrome	Diabetes mellitus AND insipidus with optic atrophy.. [+] Diabetes mellitus AND insipidus with optic atrophy AND deafness (disorder); DIDMOAD; WFS; WS; [-]	A syndrome that is characterized by diabetes melli..[+] A syndrome that is characterized by diabetes mellitus, optic atrophy, and deafness. [-]
Wolfram syndrome 1	WFS1;	An autosomal recessive disease that is characteriz..[+] An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the WFS1 gene on chromosome 4p16.1. [-]
Wolfram syndrome 2	WFS2;	An autosomal recessive neurodegenerative disorder ..[+] An autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CISD2 gene on chromosome 4q24. [-]
Wolfram syndrome, mitochondrial form	diabetes mellitus AND insipidus with optic atrophy.. [+] diabetes mellitus AND insipidus with optic atrophy AND deafness mitochondrial form; DIDMOAD, mitochondrial form; [-]	A Wolfram syndrome that has_material_basis_in muta..[+] A Wolfram syndrome that has_material_basis_in mutation in mtDNA. [-]
Wolman disease	Acid lipase deficiency; Wolman xanthomatosis; Xant.. [+] Acid lipase deficiency; Wolman xanthomatosis; Xanthomatosis, familial; Wolman's disease; Wolman's or triglyceride storage type III disease; Acid esterase deficiency; acute infantile lysosomal acid lipase deficiency; complete cholesterol ester hydrolase deficiency; complete LAL deficiency; complete LIPA deficiency; complete lysosomal acid lipase deficiency; [-]	A lysosomal acid lipase deficiency characterized b..[+] A lysosomal acid lipase deficiency characterized by infantile onset of rapidly progressive accumulation of cholesteryl esters and triglycerides throughout the body, resulting in hepatosplenomegaly, severe malnutrition, jaundice, vomiting, diarrhea, steatorrhea. Death usually occurs within the first year of life. [-]
Woodhouse-Sakati syndrome	diabetes-hypogonadism-deafness-intellectual disabi.. [+] diabetes-hypogonadism-deafness-intellectual disability syndrome; diabetes-hypogonadism-hearing loss-intellectual disability syndrome; hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome; progressive extrapyramidal disorder with primary hypogonadism, mental retardation, alopecia; [-]	A syndrome characterized by hypogonadism, alopecia..[+] A syndrome characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the DCAF17 gene on chromosome 2q31.1. [-]
Worth syndrome	autosomal dominant endosteal hyperostosis; autosom.. [+] autosomal dominant endosteal hyperostosis; autosomal dominant osteosclerosis; benign form of Worth hyperostosis corticalis generalisata with torus platinus; Worth syndrome; Worth's syndrome; [-]	A hyperostosis that has_material_basis_in a mutati..[+] A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate. [-]
X-Linked immunodeficiency 74	IMD74; respiratory insufficiency due to SARS-CoV-2.. [+] IMD74; respiratory insufficiency due to SARS-CoV-2 viral infection; TLR7 deficiency; X-linked immunodeficiency 74,COVID-19-related; [-]	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 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. [-]
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 Emery-Dreifuss muscular dystrophy 6	EDMD6; Emery-Dreifuss muscular dystrophy 6, X-link.. [+] EDMD6; Emery-Dreifuss muscular dystrophy 6, X-linked; myopathy, X-linked, with postural muscle atrophy; XMPMA; [-]	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. [-]
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 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 agammaglobulinemia	Bruton agammaglobulinemia tyrosine kinase deficien.. [+] Bruton agammaglobulinemia tyrosine kinase deficiency; Bruton's Sex-Linked Agammaglobulinemia; Bruton's type agammaglobulinemia; X-linked agammaglobulinemia (disorder); 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. [-]
X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2	AIH3; amelogenesis imperfecta type IE X-linked 2 .. [+] AIH3; amelogenesis imperfecta type IE X-linked 2 ; X-linked enamel hypoplasia; 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 cardiac valvular dysplasia	CVD1; Dystrophie valvulaire associee a FLNA; EDS 5.. [+] 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; XMVD; [-]	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 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 cerebellar ataxia		A hereditary ataxia characterized by X-linked inhe..[+] A hereditary ataxia characterized by X-linked inheritance. [-]
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 chronic granulomatous disease	CDGX; X-linked chronic cytochrome b-negative granu.. [+] CDGX; X-linked chronic cytochrome b-negative granulomatous disease; [-]	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 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 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 cone-rod dystrophy 1	COD1; CORDX1; X-linked cone dystrophy 1;	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 cone-rod dystrophy 2	COD2; CORDX2; X-linked cone dystrophy 2;	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 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 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 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 1	DFN2; DFNX1; X-linked sensorineural congenital dea.. [+] DFN2; DFNX1; X-linked sensorineural congenital deafness 2; [-]	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 2	conductive deafness 3 with stapes fixation; conduc.. [+] conductive deafness 3 with stapes fixation; conductive deafness with stapes fixation; DFN3; DFNX2; Nance deafness; X-linked deafness type 2; X-linked mixed conductive and neurosensory deafness; X-linked mixed conductive and neurosensory hearing loss; X-linked mixed conductive and sensorineural deafness; X-linked mixed conductive and sensorineural hearing loss; X-linked stapes gusher syndrome; 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 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 4	DFN6; DFNX4; nonsyndromic sensorineural progressiv.. [+] DFN6; DFNX4; nonsyndromic sensorineural progressive deafness 6; X-linked 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 5	DFNX5; X-linked auditory neuropathy 1 with periphe.. [+] DFNX5; X-linked auditory neuropathy 1 with peripheral sensory neuropathy; X-linked HSAN with deafness; AUNX1; X-linked auditory neuropathy with peripheral sensory neuropathy type 1; [-]	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 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 7	DFNX7; X-linked external auditory canal atresia-di.. [+] DFNX7; X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome; [-]	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. [-]

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