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Disease	Synonyms	Description
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. [-]
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. [-]
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 2		A Treacher Collins syndrome that has_material_basi..[+] A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the POLR1D gene on chromosome 13q12. [-]
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. [-]
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. [-]
Tietz syndrome	Tietz albinism-deafness syndrome; albinism-deafnes.. [+] Tietz albinism-deafness syndrome; albinism-deafness of Tietz; hypopigmentation/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 that is characterized by focal or segme..[+] A dystonia that is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 1p36.32-p36.13. [-]
torsion dystonia 2		A dystonia characterized by autosomal recessive in..[+] A dystonia characterized by autosomal recessive inheritance of dystonia initially of the distal limbs and later involving the neck, orofacial, and craniocervical regions that has_material_basis_in homozygous or compound heterozygous mutation in the 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 characterized by autosomal dominant inh..[+] A dystonia characterized by autosomal dominant inheritance of 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 heterozygous mutation in the TUBB4A gene on chromosome 19p13. [-]
torsion dystonia 17		A dystonia characterized by autosomal recessive in..[+] A dystonia characterized by autosomal recessive inheritance of progressive dystonia, dysphonia, dysarthria and neck torticollis that has_material_basis_in variation in the chromosome region 20p11.2-q13.12. [-]
torsion dystonia with onset in infancy		A dystonia characterized by autosomal dominant inh..[+] A dystonia 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	thiamine-responsive myelodysplasia; THMD1; TRMA; t.. [+] TRMA; THMD1; thiamine-responsive myelodysplasia; 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 [-]	An autosomal recessive disease characterized by me..[+] An autosomal recessive disease 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 that has_material_basis_in homozygous mutation in the 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	IDDM5; Insulin-Dependent Diabetes Mellitus 5	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. [-]
type 1 diabetes mellitus 8	IDDM8; Insulin-Dependent Diabetes Mellitus 8	A type 1 diabetes mellituss that has_material_basi..[+] A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 6q25-q27. [-]
type 1 diabetes mellitus 10	IDDM10; Insulin-Dependent Diabetes Mellitus 10	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the IL2RA gene on chromosome 10p15.1. [-]
type 1 diabetes mellitus 11	IDDM11; Insulin-Dependent Diabetes Mellitus 11	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 14q24.3-q31. [-]
type 1 diabetes mellitus 12	IDDM12; Insulin-Dependent Diabetes Mellitus 12	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the CTLA4 gene on chromosome 2q33.2. [-]
type 1 diabetes mellitus 13	IDDM13; Insulin-Dependent Diabetes Mellitus 13	A type 1 diabetes mellituss that has_material_basi..[+] A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 2q34. [-]
type 1 diabetes mellitus 15	IDDM15; Insulin-Dependent Diabetes Mellitus 15	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 6q21. [-]
type 1 diabetes mellitus 17	IDDM17; Insulin-Dependent Diabetes Mellitus 17	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 10q25. [-]
type 1 diabetes mellitus 18	IDDM18; Insulin-Dependent Diabetes Mellitus 18	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 5q31.1-q33.1. [-]
type 1 diabetes mellitus 19	IDDM19; Insulin-Dependent Diabetes Mellitus 19	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 2q24.3. [-]
type 1 diabetes mellitus 20	IDDM20; Insulin-Dependent Diabetes Mellitus 20	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the HNF1A gene on chromosome 12q24.31. [-]
type 1 diabetes mellitus 21	IDDM21; Insulin-Dependent Diabetes Mellitus 21	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 6q25. [-]
type 1 diabetes mellitus 22	IDDM22; Insulin-Dependent Diabetes Mellitus 22	A type 1 diabetes mellitus that has_material_basis..[+] A type 1 diabetes mellitus that has_material_basis_in mutation of the CCR5 gene on chromosome 3p21.31. [-]
type 1 diabetes mellitus 23	IDDM23; Insulin-Dependent Diabetes Mellitus 23	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 4q27. [-]
type 1 diabetes mellitus 24	IDDM24; Insulin-Dependent Diabetes Mellitus 24	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 10q23.31. [-]
tibial muscular dystrophy	Tardive tibial muscular dystrophy; TMD; distal tit.. [+] TMD; Tardive tibial muscular dystrophy; distal titinopathy; Finnish tibial muscular dystrophy; Udd myopathy; Udd type distal myopathy [-]	A distal muscular dystrophy characterized by autos..[+] A distal muscular dystrophy characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior comparment of the legs that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31. [-]
transient bullous dermolysis of the newborn	DEB, bullous dermolysis of the newborn; DEB-BDN	An epidermolysis bullosa dystrophica characterized..[+] An epidermolysis bullosa dystrophica characterized by generalized blistering at birth that usually regresses by 6 to 24 months of age that has_material_basis_in heterozygous, compound heterozygous or homozygous mutation in COL7A1 on chromosome 3p21.31. [-]
trichohepatoenteric syndrome 1	THES1	A trichohepatoenteric syndrome that has_material_b..[+] A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TTC37 gene on chromosome 5q15. [-]
Torrance type platyspondylic dysplasia	thanatophoric dysplasia, Torrance variant; lethal .. [+] thanatophoric dysplasia, Torrance variant; lethal short-limbed platyspondylic dwarfism, Torrance type; platyspondylic dysplasia, Torrance-Luton type; platyspondylic lethal skeletal dysplasia, Torrance type; PLSD-T; PLSDT [-]	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. [-]
trichodontoosseous syndrome	tricho-dento-osseous syndrome; TDO syndrome	A syndrome characterized by curly kinky hair at bi..[+] A syndrome characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology that has_material_basis_in heterozygous mutation in the DLX3 gene on chromosome 17q21.33. [-]
TARP syndrome	TARPS; talipes equinovarus-atrial septal defect-Ro.. [+] TARPS; talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome [-]	A syndrome characterized by talipes equinovarus, a..[+] A syndrome characterized by talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, cleft palate, and glossoptosis), and persistent left superior vena cava typically resulting in late prenatal or early postnatal mortality that has_material_basis_in hemizygous mutation in the RBM10 gene on chromosome Xp11.3. [-]
thrombophilia due to activated protein C resistance	thrombophilia V; thrombophilia due to deficiency o.. [+] thrombophilia V; thrombophilia due to deficiency of activated protein C cofactor; THPH2; activated protein C resistance; APC resistance; PCCF deficiency; PROC cofactor deficiency [-]	A thrombophilia characterized by resistance of F5 ..[+] A thrombophilia characterized by resistance of F5 to cleavage and inactivation and increased tendency for thrombosis that has_material_basis_in heterozygous mutation in F5 on chromosome 1q24.2. [-]
thrombophilia due to decreased release of PLAT	THPH9	A thrombophilia characterized by impaired capacity..[+] A thrombophilia characterized by impaired capacity for release of fibrinolytic activity from the blood vessel walls. [-]
thyroid dyshormonogenesis 4	TDH4; deiodinase deficiency; genetic defect in thy.. [+] TDH4; deiodinase deficiency; genetic defect in thyroid hormonogenesis 4; iodotyrosine dehalogenase deficiency [-]	A familial thyroid dyshormonogenesis that has_mate..[+] A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in IYD on chromosome 6q25.1. [-]
pleural tuberculosis	Tuberculous pleuritis; tuberculous pleurisy in pri.. [+] Tuberculous pleuritis; tuberculous pleurisy in primary progressive tuberculosis; Tuberculous pleurisy; Tuberculosis of pleura; Pearly disease [-]	An extrapulmonary tuberculosis that results_in lym..[+] An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac. [-]
heart cancer	Tumour of heart; Cardiac tumor; malignant Cardiac .. [+] Tumour of heart; Cardiac tumor; malignant Cardiac tumor; malignant neoplasm of heart [-]	A cardiovascular cancer located_in the heart.
giant cell tumor	tumor of the Giant cell; Giant cell neoplasm; Gian.. [+] tumor of the Giant cell; Giant cell neoplasm; Giant cell tumor (morphologic abnormality); Giant cell tumor (qualifier value); Giant cell tumor NOS (morphologic abnormality); Giant cell tumors; Giant cell tumors (morphologic abnormality) [-]	n_a

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