T - Health Conditions - Genetics Home Reference - NIH

T - Health Conditions - Genetics Home Reference - NIH

• 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