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Disease	Synonyms	Description	Articles
tubular aggregate myopathy 1		A myopathy that is characterized by the presence o..[+] A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the STIM1 gene on chromosome 11p15. [-]
T-cell childhood lymphoblastic lymphoma	Childhood T lymphoblastic lymphoma	A lymphoblastic lymphoma that has_material_basis_i..[+] A lymphoblastic lymphoma that has_material_basis_in T-cells and that occurs during childhood. [-]
tricuspid atresia		A tricuspid valve disease characterized by a missi..[+] A tricuspid valve disease characterized by a missing or abnormally developed tricuspid heart value at birth. [-]
thiopurine S-methyltransferase deficiency	TPMT deficiency; poor metabolism of thiopurines-1; .. [+] TPMT deficiency; poor metabolism of thiopurines-1 [-]	An inherited metabolic disease that is characteriz..[+] An inherited metabolic disease that is characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines. [-]
tuberous sclerosis 1		A tuberous sclerosis that is characterized by hama..[+] A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in heterozygous mutation in the TSC1 gene on chromosome 9q34. [-]
tuberous sclerosis 2		A tuberous sclerosis that is characterized by hama..[+] A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TSC2 gene, which encodes tuberin, on chromosome 16p13. [-]
trimethylaminuria	fish-odor syndrome	An inherited metabolic disorder characterized by t..[+] An inherited metabolic disorder characterized by the inabilty to break down trimethylamine and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding flavin-containing monooxygenase-3 on chromosome 1q24. [-]
trichorhinophalangeal syndrome type III	trichorhinophalangeal syndrome type 3	A syndrome that is characterized by sparse hair, b..[+] A syndrome that is characterized by sparse hair, beaked nose, long upper lip, and severe metacarpophalangeal shortening and has_material_basis_in heterozygous mutation in the TRPS1 gene on chromosome 8q23. [-]
thyroid gland anaplastic carcinoma	anaplastic thyroid carcinoma	A thyroid gland carcinoma that is composed of undi..[+] A thyroid gland carcinoma that is composed of undifferentiated cells. [-]
tongue carcinoma		A tongue cancer that derives_from epithelial cells..[+] A tongue cancer that derives_from epithelial cells that cover the surface of the tongue. [-]
tubular aggregate myopathy 2		A myopathy that is characterized by the presence o..[+] A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the ORAI1 gene on chromosome 12q24. [-]
Teebi hypertelorism syndrome 1	Teebi hypertelorism syndrome-1; Opitz GBBB syndrom.. [+] Teebi hypertelorism syndrome-1; Opitz GBBB syndrome type II; SPECC1L-related hypertelorism syndrome [-]	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. [-]
T cell and NK cell immunodeficiency		A primary immunodeficiency disease that involves m..[+] A primary immunodeficiency disease that involves multiple components of the immune system, including both T cell and NK cell immunodeficiency. [-]
transverse myelitis		A myelitis that is characterized by a band-like se..[+] A myelitis that is characterized by a band-like sensation across the trunk of the body, with sensory changes below. [-]
thalassemia minor		A beta thalassemia that has_material_basis_in one ..[+] A beta thalassemia that has_material_basis_in one HBB gene mutation without typical thalassemia symptoms, but may have some symptoms of anemia. [-]
transient infantile liver failure		A liver disease that is characterized by elevated ..[+] A liver disease that is characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, and the presence of increased serum lactate and that has_material_basis_in homozygous or compound heterozygous mutation in the TRMU gene, which is involved in mitochondrial protein translation, on chromosome 22q13. [-]
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. [-]
T2-high asthma	type 2 high endotype	A chronic asthma that is characterized by the path..[+] A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of early-onset allergic asthma, late-onset eosinophilic asthma, and aspirin-exacerbated respiratory disease. [-]
T2-low asthma	type 2 low endotype	A chronic asthma that is characterized by the path..[+] A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of non-atopic, smoking, obesity related, and elderly and that is characterized by neutrophilic (sputum neutrophils > 40–60%) or paucigranulocytic (i.e., normal sputum levels of both eosinophils and neutrophils) inflammation and a lack of response to corticosteroid therapy. [-]
thunderstorm triggered asthma	thunderstorm asthma; thunderstorm related asthma	An allergic asthma that is characterized by acute ..[+] An allergic asthma that is characterized by acute asthma attacks immediately following a thunderstorm resulting from inhalation of high concentrations of aeroallergens, most commonly grass pollen. [-]
TORCH syndrome		A syndrome that is characterized by congenital inf..[+] A syndrome that is characterized by congenital infection with toxoplasmosis, rubella, cytomegalovirus, herpes simplex, and other organisms. [-]
tuberculous encephalopathy		A tuberculosis that is characterized by cerebral e..[+] A tuberculosis that is characterized by cerebral edema sometimes with features similar to acute disseminated encephalomyelitis (ADEM) and may manifest with a variety of symptoms ranging from focal neurological deficits to convulsions and decreased conscious state. [-]
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. [-]
T-cell prolymphocytic leukemia	T Cell Prolymphocytic Leukemia; Prolymphocytic leu.. [+] T Cell Prolymphocytic Leukemia; Prolymphocytic leukemia, T-cell type [-]	A prolymphocytic leukemia that is characterized by..[+] A prolymphocytic leukemia that is characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin. [-]
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 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. [-]
tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia		An amino acid metabolic disorder that are characte..[+] An amino acid metabolic disorder that are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4. [-]
teratoma with somatic-type malignancy		A teratoma that is characterized by morphologic tr..[+] A teratoma that is characterized by morphologic transformation to malignancy and an aggressive clinical course. [-]
traumatic brain injury		A brain disease that is characterized by brain dys..[+] A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head. [-]
T-cell non-Hodgkin lymphoma		A non-Hodgkin lymphoma of T-cell lineage.	1 articles
Thomsen disease	Thomsen's disease; Congenital myotonia, autosomal .. [+] Thomsen's disease; Congenital myotonia, autosomal dominant form [-]	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. [-]
TANGO2-related metabolic encephalopathy and arrythmias	TANGO2 deficiency; metabolic encephalomyopathic cr.. [+] TANGO2 deficiency; metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration [-]	A syndrome that is characterized by episodic metab..[+] A syndrome that is characterized by episodic metabolic degeneration affecting skeletal muscle, cardiac muscle, and the nervous system and that has_material_basis_in homozygous or compound heterozygous mutation in the TANGO2 gene on chromosome 22q11. [-]
TFEB-rearranged renal cell carcinoma	t(6; t(6; Renal Cell Carcinoma with t(6; 11); (p21.. [+] t(6; t(6; Renal Cell Carcinoma with t(6; 11); (p21; q12); MALAT1-TFEB; Renal Cell Carcinoma with t(6; 11); (p21; q12); MALAT1::TFEB; 11) Renal Cell Carcinoma; 11); (p21; q12) Renal Cell Carcinoma [-]	A renal cell carcinoma with MiT translocations tha..[+] A renal cell carcinoma with MiT translocations that is characterized by the presence of the chromosomal translocation t(6;11) which fuses the TFEB transcription factor gene, located on chromosome 6, with the MALAT1 gene, located on chromosome 11. [-]
TFE3-rearranged renal cell carcinoma	Renal Cell Carcinoma Associated with Xp11.2 Transl.. [+] Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions; Xp11 Translocation Renal Cell Carcinoma [-]	A renal cell carcinoma with MiT translocations tha..[+] A renal cell carcinoma with MiT translocations that is characterized by the presence of different translocations involving the chromosome Xp11.2 and that result in the creation of gene fusions involving the TFE3 gene. [-]
Tietz syndrome	Tietz albinism-deafness syndrome; hypopigmentation.. [+] Tietz albinism-deafness syndrome; hypopigmentation/deafness of Tietz; 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. [-]
torsion dystonia 13		A dystonia characterized by autosomal dominant inh..[+] A dystonia characterized by autosomal dominant inheritance of focal or segmental dystonia with cranial, cervical, or upper limb involvement that has_material_basis_in variation in the chromosome region 1p36.32-p36.13. [-]
torsion dystonia 2		A dystonia that initially involves the distal limb..[+] A dystonia that initially involves the distal limbs and later involves the neck, orofacial, and craniocervical regions, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hippocalcin (HPCA) gene on chromosome 1p35. [-]
torsion dystonia 6		A generalized dystonia that is characterized by ea..[+] A generalized dystonia that is characterized by early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the THAP domain containing 1 gene (THAP1) on chromosome 8p11. [-]
torsion dystonia 7		A focal dystonia characterized by predomiantly cer..[+] A focal dystonia characterized by predomiantly cervical dystonia that has_material_basis_in variation in the chromosome region 18p. [-]
torsion dystonia 4		A dystonia that is characterized by progressive la..[+] A dystonia that is characterized by progressive laryngeal and cervical dystonia (onset in the second to third decade of life) followed by involvement of other muscles, such as the neck or limbs that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 4A class IVa (TUBB4A) gene on chromosome 19p13. [-]
torsion dystonia 17		A dystonia that is characterized by progressive dy..[+] A dystonia that is characterized by progressive dystonia, dysphonia, dysarthria and neck torticollis, and has_material_basis_in autosomal recessive inheritance of variation in the chromosome region 20p11.2-q13.12. [-]
torsion dystonia with onset in infancy		A generalized dystonia that is characterized by au..[+] A generalized dystonia that is characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy. [-]
thiamine-responsive megaloblastic anemia syndrome	THMD1; thiamine-responsive anaemia syndrome; thiam.. [+] thiamine-responsive anaemia syndrome; THMD1; thiamine metabolism dysfunction syndrome 1; thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness; thiamine-responsive megaloblastic anaemia syndrome; thiamine-responsive myelodysplasia; TRMA; thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness; thiamine-responsive anemia syndrome; thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus and deafness type); Rogers syndrome [-]	A syndrome that is characterized by megaloblastic ..[+] A syndrome that is characterized by megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness where the anemia and sometimes diabetes is repsonsive to high doses of thiamine, and that has_material_basis_in homozygous mutation in the solute carrier family 19 member 2 (SLC19A2) gene on chromosome 1q24. [-]
type 1 diabetes mellitus 2	IDDM2; Insulin-Dependent Diabetes Mellitus 2	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutation of the INS gene on chromosome 11p15.5. [-]
type 1 diabetes mellitus 3	IDDM3; Insulin-Dependent Diabetes Mellitus 3	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 15q26. [-]
type 1 diabetes mellitus 4	IDDM4; Insulin-Dependent Diabetes Mellitus 4	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 11q13. [-]
type 1 diabetes mellitus 5	Insulin-Dependent Diabetes Mellitus 5; IDDM5	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the SUMO4 gene on chromosome 6q25.1. [-]
type 1 diabetes mellitus 6	IDDM6; Insulin-Dependent Diabetes Mellitus 6	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 18q21. [-]
type 1 diabetes mellitus 7	IDDM7; Insulin-Dependent Diabetes Mellitus 7	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q31. [-]

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