Genetic diseases-T

• T cell-negative, B cell-positive, NK cell-negative SCID see JAK3-deficient severe combined immunodeficiency
• T-B+ severe combined immunodeficiency due to JAK3 deficiency see JAK3-deficient severe combined immunodeficiency
• T-cell immunodeficiency, congenital alopecia, and nail dystrophy
• T1D see Type 1 diabetes
• T2 deficiency see Beta-ketothiolase deficiency
• T2D see Type 2 diabetes
• TAA see Familial thoracic aortic aneurysm and dissection
• TAAD see Familial thoracic aortic aneurysm and dissection
• TACH see Pol III-related leukodystrophy
• TAM see Tubular aggregate myopathy
• Tangier disease
• Tangier Disease Neuropathy see Tangier disease
• Tangier Hereditary Neuropathy see Tangier disease
• tapetoretinal degeneration see Cone-rod dystrophy
• tapetoretinal degeneration see Retinitis pigmentosa
• TAR syndrome see Thrombocytopenia-absent radius syndrome
• tardive tibial muscular dystrophy see Tibial muscular dystrophy
• Tarsal-carpal coalition syndrome
• Tarui disease see Glycogen storage disease type VII
• task-specific dystonia see Task-specific focal dystonia
• Task-specific focal dystonia
• Tatton-Brown-Rahman syndrome see DNMT3A overgrowth syndrome
• Tay-Sachs disease
• Tay-Sachs Disease, AB Variant see GM2-gangliosidosis, AB variant
• Taybi syndrome see Otopalatodigital syndrome type 2
• Taybi syndrome see Otopalatodigital syndrome type 1
• TAZ defect see Barth syndrome
• TBG deficiency see Inherited thyroxine-binding globulin deficiency
• TBRS see DNMT3A overgrowth syndrome
• TC deficiency see Transcobalamin deficiency
• TC II deficiency see Transcobalamin deficiency
• TCC see Tarsal-carpal coalition syndrome
• TCD see Choroideremia
• TCN2 deficiency see Transcobalamin deficiency
• TD see Tourette syndrome
• telangiectasia, cerebello-oculocutaneous see Ataxia-telangiectasia
• Teschler-Nicola/Killian syndrome see Pallister-Killian mosaic syndrome
• testosterone 17-beta-dehydrogenase deficiency see 17-beta hydroxysteroid dehydrogenase 3 deficiency
• testotoxicosis see Familial male-limited precocious puberty
• Tetra-amelia see Tetra-amelia syndrome
• Tetra-amelia syndrome
• Tetra-amelia, autosomal recessive see Tetra-amelia syndrome
• Tetrahydrobiopterin deficiency
• tetraphocomelia-cleft palate syndrome see Roberts syndrome
• tetrasomy 12p, mosaic see Pallister-Killian mosaic syndrome
• Tetrasomy 18p
• TFP deficiency see Mitochondrial trifunctional protein deficiency
• TH deficiency see Tyrosine hydroxylase deficiency
• TH-deficient DRD see Tyrosine hydroxylase deficiency
• thalassemia, beta type see Beta thalassemia
• thanatophoric dwarfism see Thanatophoric dysplasia
• Thanatophoric dysplasia
• thanatophoric short stature see Thanatophoric dysplasia
• THAP1 dystonia see Dystonia 6
• THE syndrome see Trichohepatoenteric syndrome
• THES see Trichohepatoenteric syndrome
• thiamine metabolism dysfunction syndrome 2 see Biotin-thiamine-responsive basal ganglia disease
• thiamine transporter-2 deficiency see Biotin-thiamine-responsive basal ganglia disease
• thiamine-responsive encephalopathy see Biotin-thiamine-responsive basal ganglia disease
• Thiamine-responsive megaloblastic anemia syndrome
• Thiamine-responsive myelodysplasia see Thiamine-responsive megaloblastic anemia syndrome
• thiopurine methyltransferase deficiency see Thiopurine S-methyltransferase deficiency
• Thiopurine S-methyltransferase deficiency
• THMD2 see Biotin-thiamine-responsive basal ganglia disease
• thoracic aortic aneurysm see Familial thoracic aortic aneurysm and dissection
• thoracic asphyxiant dystrophy see Asphyxiating thoracic dystrophy
• thoracic-pelvic-phalangeal dystrophy see Asphyxiating thoracic dystrophy
• three M syndrome see 3-M syndrome
• three-M slender-boned nanism see 3-M syndrome
• thrombocytopathy, asplenia, and miosis see Stormorken syndrome
• thrombocytopenia 1 see X-linked thrombocytopenia
• thrombocytopenia absent radii see Thrombocytopenia-absent radius syndrome
• Thrombocytopenia-absent radius syndrome
• Thrombotic microangiopathy, familial see Thrombotic thrombocytopenic purpura
• Thrombotic thrombocytopenic purpura
• Thymidine phosphorylase deficiency see Mitochondrial neurogastrointestinal encephalopathy disease
• Tibial muscular dystrophy
• Tietz albinism-deafness syndrome see Tietz syndrome
• Tietz syndrome
• Tietz's syndrome see Tietz syndrome
• Timothy syndrome
• titinopathy & early-onset myopathy with fatal cardiomyopathy see Early-onset myopathy with fatal cardiomyopathy
• TK2-related mitochondrial DNA depletion myopathy see TK2-related mitochondrial DNA depletion syndrome, myopathic form
• TK2-related mitochondrial DNA depletion syndrome, myopathic form
• TMAU see Trimethylaminuria
• TMAuria see Trimethylaminuria
• TMCO1 defect syndrome see Cerebro-facio-thoracic dysplasia
• TMD see Tibial muscular dystrophy
• TNDM type 1 see 6q24-related transient neonatal diabetes mellitus
• TNF receptor-associated periodic fever syndrome see Tumor necrosis factor receptor-associated periodic syndrome
• tomaculous neuropathy see Hereditary neuropathy with liability to pressure palsies
• Torg syndrome see Multicentric osteolysis, nodulosis, and arthropathy
• Torg-Winchester syndrome see Multicentric osteolysis, nodulosis, and arthropathy
• torsion dystonia 6 see Dystonia 6
• Torsion dystonia-parkinsonism, Filipino type see X-linked dystonia-parkinsonism
• total color blindness see Achromatopsia
• Total hexosaminidase deficiency see Sandhoff disease
• total HPRT deficiency see Lesch-Nyhan syndrome
• total hypotrichosis, Mari type see Autosomal recessive hypotrichosis
• total hypoxanthine-guanine phosphoribosyl transferase deficiency see Lesch-Nyhan syndrome
• total lipodystrophy see Congenital generalized lipodystrophy
• Tourette Disorder see Tourette syndrome
• Tourette syndrome
• Tourette's Disease see Tourette syndrome
• Townes syndrome see Townes-Brocks Syndrome
• Townes-Brocks Syndrome
• toxemia of pregnancy see Preeclampsia
• toxic diffuse goiter see Graves disease
• toxic epidermal necrolysis see Stevens-Johnson syndrome/toxic epidermal necrolysis
• TPA deficiency see Mitochondrial trifunctional protein deficiency
• TPI deficiency see Triosephosphate isomerase deficiency
• TPID see Triosephosphate isomerase deficiency
• TPMT deficiency see Thiopurine S-methyltransferase deficiency
• Transcobalamin deficiency
• transcobalamin II deficiency see Transcobalamin deficiency
• transcortin deficiency see Corticosteroid-binding globulin deficiency
• transgrediens palmoplantar keratoderma of Siemens see Mal de Meleda
• transient neonatal diabetes mellitus 1 see 6q24-related transient neonatal diabetes mellitus
• transmissible dementias see Prion disease
• transmissible spongiform encephalopathies see Prion disease
• Transthyretin amyloidosis
• TRAPS see Tumor necrosis factor receptor-associated periodic syndrome
• Treacher Collins syndrome
• Treacher Collins-Franceschetti syndrome see Treacher Collins syndrome
• tremor-ataxia with central hypomyelination see Pol III-related leukodystrophy
• tricho-hepato-enteric syndrome see Trichohepatoenteric syndrome
• tricho-rhino-phalangeal syndrome type II see Trichorhinophalangeal syndrome type II
• Trichohepatoenteric syndrome
• trichorhinophalangeal dysplasia type I see Trichorhinophalangeal syndrome type I
• Trichorhinophalangeal syndrome type I
• Trichorhinophalangeal syndrome type II
• trichorhinophalangeal syndrome with exostosis see Trichorhinophalangeal syndrome type II
• Trichothiodystrophy
• trifunctional protein deficiency, type 1 see Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
• trifunctional protein deficiency, type 2 see Mitochondrial trifunctional protein deficiency
• Triglyceride storage disease with ichthyosis see Chanarin-Dorfman syndrome
• triglyceride storage disease with impaired long-chain fatty acid oxidation see Chanarin-Dorfman syndrome
• Trimethylaminuria
• triose phosphate isomerase deficiency see Triosephosphate isomerase deficiency
• Triosephosphate isomerase deficiency
• Triple A syndrome
• triple H syndrome see Ornithine translocase deficiency
• triple symptom complex see Behçet disease
• Triple X syndrome
• triplo X syndrome see Triple X syndrome
• Trisomy 13
• trisomy 13 syndrome see Trisomy 13
• Trisomy 18
• trisomy 18 syndrome see Trisomy 18
• trisomy 21 see Down syndrome
• trisomy 3q29 see 3q29 microduplication syndrome
• trisomy 7q11.23 see 7q11.23 duplication syndrome
• trisomy E syndrome see Trisomy 18
• trisomy G see Down syndrome
• trisomy X see Triple X syndrome
• trisomy Xq28 see MECP2 duplication syndrome
• TRMA see Thiamine-responsive megaloblastic anemia syndrome
• TRNT1 deficiency
• TRNT1 enzyme deficiency see TRNT1 deficiency
• TRNT1-related immunodeficiency see TRNT1 deficiency
• TRNT1-related immunodeficiency+ see TRNT1 deficiency
• Troisier-Hanot-Chauffard syndrome see Hereditary hemochromatosis
• Troyer syndrome
• TRP syndrome see Trichorhinophalangeal syndrome type I
• TRPS I see Trichorhinophalangeal syndrome type I
• TRPS II see Trichorhinophalangeal syndrome type II
• TRPS1 see Trichorhinophalangeal syndrome type I
• TRPS2 see Trichorhinophalangeal syndrome type II
• true microcephaly see Autosomal recessive primary microcephaly
• TS see Tourette syndrome
• TS see Timothy syndrome
• TS see Turner syndrome
• TSD see Tay-Sachs disease
• TSEs see Prion disease
• TTD see Trichothiodystrophy
• TTP see Thrombotic thrombocytopenic purpura
• TUBB4A-associated hypomyelinating leukoencephalopathies see TUBB4A-related leukodystrophy
• TUBB4A-related hypomyelinating leukodystrophy see TUBB4A-related leukodystrophy
• TUBB4A-related leukodystrophy
• tuberose sclerosis see Tuberous sclerosis complex
• Tuberous sclerosis complex
• Tubular aggregate myopathy
• tubular hypomagnesemia-hypokalemia with hypocalcuria see Gitelman syndrome
• Tumor necrosis factor receptor-associated periodic syndrome
• tumor of the Ewing family see Ewing sarcoma
• tumor, Wilms see Wilms tumor
• turban tumor syndrome see Familial cylindromatosis
• Turner phenotype with normal karyotype see Noonan syndrome
• Turner syndrome
• Turner syndrome in female with X chromosome see Noonan syndrome
• Turner's syndrome see Turner syndrome
• Turner-Kieser syndrome see Nail-patella syndrome
• Turner-like syndrome see Noonan syndrome
• Type 1 diabetes
• type 1 diabetes mellitus see Type 1 diabetes
• type 1 lissencephaly see Isolated lissencephaly sequence
• type 1 spinocerebellar ataxia see Spinocerebellar ataxia type 1
• Type 2 diabetes
• type 2 diabetes mellitus see Type 2 diabetes
• type 6 spinocerebellar ataxia see Spinocerebellar ataxia type 6
• type A insulin resistance see Type A insulin resistance syndrome
• Type A insulin resistance syndrome
• type I acrocephalosyndactyly see Apert syndrome
• type I familial amyloid polyneuropathy see Transthyretin amyloidosis
• type II 3β-hydroxysteroid dehydrogenase deficiency see 3-beta-hydroxysteroid dehydrogenase deficiency
• type II acrocephalosyndactyly see Carpenter syndrome
• type II ataxia with lactic acidosis see Pyruvate carboxylase deficiency
• type II familial amyloid polyneuropathy see Transthyretin amyloidosis
• type IV glycogenosis see Glycogen storage disease type IV
• typus degenerativus amstelodamensis see Cornelia de Lange syndrome
• tyrosinaemia see Tyrosinemia
• Tyrosine hydroxylase deficiency
• Tyrosinemia