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Disease	Synonyms	Description	Articles
Takayasu's arteritis	(Aortic arch arteritis) or (Takayasu's disease[& p.. [+] (Aortic arch arteritis) or (Takayasu's disease[& pulseless]); Aortic arch arteritis; Aortic Arch syndrome; Aortic arch syndrome; Takayasu's disease; Idiopathic aortitis (disorder); Idiopathic aortitis; Takayasu arteritis; aortic arch syndrome; [-]	A vasculitis that involves inflammation of the aor..[+] A vasculitis that involves inflammation of the aorta that carries blood from the heart to the rest of the body. [-]
Tangier disease	familial alpha-lipoprotein deficiency; familial hy.. [+] familial alpha-lipoprotein deficiency; familial hypoalphalipoproteinemia; familial high density lipoprotein deficiency; [-]	A hypolipoproteinemia that is characterized by mar..[+] A hypolipoproteinemia that is characterized by markedly reduced levels of plasma high density lipoproteins resulting in tissue accumulation of cholesterol esters and that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA1 gene on chromosome 9q31. [-]
Tatton-Brown-Rahman syndrome	DNMT3A overgrowth syndrome; DOS; Tatton-Brown-Rahm.. [+] DNMT3A overgrowth syndrome; DOS; Tatton-Brown-Rahman overgrowth syndrome; TBRS; [-]	A syndromic intellectual disability characterized ..[+] A syndromic intellectual disability characterized by tall stature, a distinctive facial appearance, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DNMT3A gene on chromosome 2p23.3. [-]
Tay-Sachs disease	disease, Tay-Sachs; hexosaminidase A deficiency; T.. [+] disease, Tay-Sachs; hexosaminidase A deficiency; Tay-Sachs disease (disorder); A GM2 gangliosidosis that is characterized the onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23.; GM2 gangliosidosis, type 1; [-]	A GM2 gangliosidosis that is characterized onset i..[+] A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23. [-]
Taylor's syndrome	pelvic congestion syndrome; Taylor syndrome; Conge.. [+] pelvic congestion syndrome; Taylor syndrome; Congestion-fibrosis syndrome; [-]	n_a
Teebi hypertelorism syndrome	Brachycephalofrontonasal dysplasia;	A syndrome characterized by hypertelorism, promine..[+] A syndrome characterized by hypertelorism, prominent forehead, thick eyebrows, and short nose with broad and depressed features. [-]
Teebi hypertelorism syndrome 1	Opitz GBBB syndrome type II; SPECC1L-related hyper.. [+] Opitz GBBB syndrome type II; SPECC1L-related hypertelorism syndrome; Teebi hypertelorism syndrome-1; [-]	A Teebi hypertelorism syndrome that has_material_b..[+] A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the SPECC1L gene on chromosome 22q11.2 or heterozygous deletion at chromosome 22q11.2. [-]
Teebi hypertelorism syndrome 2		A Teebi hypertelorism syndrome that has_material_b..[+] A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the CDH11 gene on chromosome 16q21. [-]
Temple syndrome		A syndrome characterized by low birth weight, hypo..[+] A syndrome characterized by low birth weight, hypotonia and motor delay, feeding problems early in life, early puberty, and significantly reduced final height that has_material_basis_in heterozygous mutation in an impriniting region on chromosome 14q32. [-]
Temtamy syndrome	craniofacial dysmorphism with ocular coloboma abse.. [+] craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation; dysmorphism, corpus callosum agenesis and colobomas; Temtamy-Shalash syndrome; craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome; [-]	A syndrome characterized by variable craniofacial ..[+] A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in the C12ORF57 gene on chromosome 12p13.31. [-]
Thiel-Behnke corneal dystrophy	corneal dystrophy honeycomb-shaped; Waardenburg-Jo.. [+] corneal dystrophy honeycomb-shaped; Waardenburg-Jonker corneal dystrophy; corneal dystrophy of Bowman layer type II; anterior limiting membrane dystrophy type II; TBCD; [-]	An epithelial-stromal TGFBI dystrophy that is char..[+] An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and honeycomb-shaped opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea. [-]
Thomsen disease	Congenital myotonia, autosomal dominant form; Thom.. [+] Congenital myotonia, autosomal dominant form; Thomsen's disease; [-]	A myotonia congenita that is characterized by musc..[+] A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34. [-]
Tietz syndrome	hypopigmentation/deafness of Tietz; Tietz albinism.. [+] hypopigmentation/deafness of Tietz; Tietz albinism-deafness syndrome; albinism-deafness of Tietz; [-]	A syndrome that is characterized by congenital pro..[+] A syndrome that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has_material_basis_in mutation in the MITF gene on chromosome 3p13. [-]
Tietze's syndrome	Costochondral junction syndrome; Costochondritis; .. [+] Costochondral junction syndrome; Costochondritis; Tietze's disease; Costalchondritis; Slipping rib syndrome; Tietze syndrome; [-]	n_a
Timothy grass allergy		A pollen allergy triggered by Phleum pratense poll..[+] A pollen allergy triggered by Phleum pratense pollen. [-]
Timothy syndrome	long QT syndrome with syndactyly;	A syndrome characterized by cardiac, hand/foot, fa..[+] A syndrome characterized by cardiac, hand/foot, facial, and neurodevelopmental features that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of the CACNA1C gene. [-]	3 articles
Tonne-Kalscheuer syndrome	intellectual developmental disorder with or withou.. [+] intellectual developmental disorder with or without hand and foot anomalies, genital anomalies, or congenital diaphragmatic hernia; MRX61; TOKAS; X-linked mental retardation 61; [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities in most patients and variable congenital anomalies in some patients that has_material_basis_in mutation in the RLIM gene on chromosome Xq13.2. [-]
Torrance type platyspondylic dysplasia	lethal short-limbed platyspondylic dwarfism, Torra.. [+] lethal short-limbed platyspondylic dwarfism, Torrance type; platyspondylic dysplasia, Torrance-Luton type; platyspondylic lethal skeletal dysplasia, Torrance type; PLSD-T; PLSDT; thanatophoric dysplasia, Torrance variant; [-]	An osteochondrodysplasia characterized by decrease..[+] An osteochondrodysplasia characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. [-]
Townes-Brocks syndrome		A syndrome that is characterized by imperforate an..[+] A syndrome that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. [-]	2 articles
Treacher Collins syndrome	(Mandibulofacial dysostosis) or (Franceschetti syn.. [+] (Mandibulofacial dysostosis) or (Franceschetti syndrome); mandibulofacial dysostosis; Franceschetti syndrome; Mandibulofacial dysostosis; [-]	A syndrome that is characterized by bilateral and ..[+] A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities. [-]	7 articles
Treacher Collins syndrome 1		A Treacher Collins syndrome that has_material_basi..[+] A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the 'treacle' gene (TCOF1) on chromosome 5q32. [-]
Treacher Collins syndrome 3		A Treacher Collins syndrome that has_material_basi..[+] A Treacher Collins syndrome that has_material_basis_in compound heterozygous mutation in the POLR1C gene on chromosome 6p21. [-]
Trichomonas tenax trichomoniasis		A trichomoniasis that is caused by a singled-celle..[+] A trichomoniasis that is caused by a singled-celled protozoan parasite Trichomonas tenax, which is transmitted through oral droplets, by kissing, or on fomites such as eating utensils. Trichomonas tenax causes periodonitis and bronchopulmonary trichomoniasis by aspiration from the oropharynx. [-]
Trichomonas vaginalis trichomoniasis	urogenital trichomonas;	A trichomoniasis that involves infection of the ur..[+] A trichomoniasis that involves infection of the urogenital tract, has_material_basis_in Trichomonas vaginalis, which is transmitted through sexual contact. Symptoms include inflammation of the cervix, urethra and vagina which produce an itching or burning sensation, and yellow-green, itchy, frothy foul-smelling vaginal discharge. [-]
Troyer syndrome	autosomal recessive spastic paraplegia 20; autosom.. [+] autosomal recessive spastic paraplegia 20; autosomal recessive spastic paraplegia Troyer type; autosomal recessive spastic paraplegia type 20; childhood-onset spastic paraparesis with distal muscle wasting; hereditary spastic paraplegia 20; spastic paraplegia 20 (Troyer syndrome); spastic paraplegia type 20; SPG20; spastic paraplegia 20; [-]	A hereditary spastic paraplegia that is characteri..[+] A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene. [-]
Tukel syndrome	congenital fibrosis of the extraocular muscles 4;	A congenital fibrosis of the extraocular muscles t..[+] A congenital fibrosis of the extraocular muscles that is characterized by nonprogressive restrictive ophthalmoplegia with blepharoptosis of the right eye and postaxial oligodactyly/oligosyndactyly of the hands, with the right more severely affected than the left. [-]
Turner syndrome	Gonadal dysgenesis - Turner; Karyotype 45, X; Mono.. [+] Gonadal dysgenesis - Turner; Karyotype 45, X; Monosomy X; XO syndrome; monosomy X syndrome; Bonnevie-Ullrich syndrome; [-]	A gonadal dysgenesis that is characterized by shor..[+] A gonadal dysgenesis that is characterized by short stature and early loss of ovarian function resulting from ovarian hypofunction or premature ovarian failure and has_material_basis_in one missing or structurally altered X chromosome. [-]	1 articles
UV-sensitive syndrome		A skin disease characterized by photosensitivity a..[+] A skin disease characterized by photosensitivity and liver spots (solar lentigines). [-]
Ullrich congenital muscular dystrophy	ULLRICH DISEASE; Ullrich scleroatonic muscular dys.. [+] ULLRICH DISEASE; Ullrich scleroatonic muscular dystrophy; [-]	A congenital muscular dystrophy that is characteri..[+] A congenital muscular dystrophy that is characterized by muscle weakness and respiratory depression and has_material_basis_in mutation in the COL6A1, COL6A2 and COL6A3 that produce components of type VI collagen. [-]
Unverricht-Lundborg syndrome	Unverricht - Lundborg disease; Unverricht-Lundborg.. [+] Unverricht - Lundborg disease; Unverricht-Lundborg disease; Unverricht's disease; [-]	A progressive myoclonus epilepsy characterized by ..[+] A progressive myoclonus epilepsy characterized by onset between 6 and 13 years of age of action- and stimulus-sensitive myoclonus, tonic-clonic seizures with ataxia, and a mild cognitive decline. [-]	1 articles
Uruguay faciocardiomusculoskeletal syndrome	FCMSU;	A syndrome characterized by distinctive facial app..[+] A syndrome characterized by distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy that has_material_basis_in hemizygous mutation in the FHL1 gene on chromosome Xq26.3. [-]
Usher syndrome		A syndrome characterized by a combination of heari..[+] A syndrome characterized by a combination of hearing loss and visual impairment. [-]	1 articles
Usher syndrome type 1	US1; USH1;	An Usher syndrome characterized by profound congen..[+] An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa. [-]	1 articles
Usher syndrome type 1C	Usher syndrome type I Acadian variety; Usher syndr.. [+] Usher syndrome type I Acadian variety; Usher syndrome type IC; USH1C; [-]	An Usher syndrome type 1 that has_material_basis_i..[+] An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the USH1C gene on chromosome 11p15. [-]
Usher syndrome type 1D	Usher syndrome type ID; USH1D;	An Usher syndrome type 1 that has_material_basis_i..[+] An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the CDH23 gene on chromosome 10q22. [-]	1 articles
Usher syndrome type 1E	USH1E; Usher syndrome type IE;	An Usher syndrome type 1 that has_material_basis_i..[+] An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 21q21. [-]
Usher syndrome type 1F	USH1F; Usher syndrome type IF;	An Usher syndrome type 1 that has_material_basis_i..[+] An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the PCDH15 gene on chromosome 10q. [-]
Usher syndrome type 1G	USH1G; Usher syndrome type IG;	An Usher syndrome type 1 that has_material_basis_i..[+] An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the USH1G gene on chromosome 17q25. [-]
Usher syndrome type 1H	Usher syndrome type IH; USH1H;	An Usher syndrome type 1 that has_material_basis_i..[+] An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 15q22-q23. [-]
Usher syndrome type 1J	USH1J; Usher syndrome type IJ;	An Usher syndrome type 1 that has_material_basis_i..[+] An Usher syndrome type 1 that has_material_basis_in caused by homozygous mutation in the CIB2 gene on chromosome 15q24. [-]
Usher syndrome type 1K	USH1K; Usher syndrome type IK;	An Usher syndrome type 1 that has_material_basis_i..[+] An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 10p11.21-q21.1. [-]
Usher syndrome type 2	USH2;	An Usher syndrome characterized by mild to severe ..[+] An Usher syndrome characterized by mild to severe congenital hearing impairment, normal vestibular function and later development of retinitis pigmentosa. [-]
Usher syndrome type 2A	USH2A; Usher syndrome type IIA;	An Usher syndrome type 2 characterized by moderate..[+] An Usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41. [-]
Usher syndrome type 2C	Usher syndrome type IIC; USH2C; Usher syndrome IIC.. [+] Usher syndrome type IIC; USH2C; Usher syndrome IIC; [-]	An Usher syndrome type 2 that has_material_basis_i..[+] An Usher syndrome type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14. [-]
Usher syndrome type 2D	USH2D; Usher syndrome type IID;	An Usher syndrome type 2 that has_material_basis_i..[+] An Usher syndrome type 2 that has_material_basis_in by homozygous or compound heterozygous mutation in the WHRN gene on chromosome 9q32. [-]
Usher syndrome type 3	USH3;	An Usher syndrome characterized by progressive hea..[+] An Usher syndrome characterized by progressive hearing loss typically beginning in late childhood, variable vestibular dysfunction and onset of retinitis pigmentosa by the second decade of life. [-]
Usher syndrome type 3A	USH3A; Usher syndrome type IIIA;	An Usher syndrome type 3 that has_material_basis_i..[+] An Usher syndrome type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the CLRN1 gene on chromosome 3q25. [-]
Usher syndrome type 3B	USH3B; Usher syndrome type IIIB;	An Usher syndrome type 3 that has_material_basis_i..[+] An Usher syndrome type 3 that has_material_basis_in homozygous mutation in the HARS gene on chromosome 5q31. [-]
VACTERL association	VATER syndrome;	A syndrome that is characterized by the presence o..[+] A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. [-]
VEXAS syndrome	vacuoles, E1 enzyme, X-linked, autoinflammatory an.. [+] vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome; [-]	A syndrome that is characterized by blood clots in..[+] A syndrome that is characterized by blood clots in veins, recurrent fevers, pulmonary abnormalities and vacuoles in myeloid cells and that has_material_basis_in mutation in the UBA1 gene on chromosome Xp11. [-]

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