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Genetics →
Genetic Conditions: T
URL of this page: https://medlineplus.gov/genetics/condition-t/

Genetic Conditions: T

Explore the signs and symptoms, genetic cause, and inheritance pattern of various health conditions.

Other genetic conditions A-Z
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  • Z
  • 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 Retinitis pigmentosa
  • Tapetoretinal degeneration, see Cone-rod dystrophy
  • 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 activator deficiency
  • Taybi syndrome, see Otopalatodigital syndrome type 1
  • Taybi syndrome, see Otopalatodigital syndrome type 2
  • TBG deficiency, see Inherited thyroxine-binding globulin deficiency
  • TBGQTL, 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
  • Telomeric deletion 10, see 10q26 deletion syndrome
  • Telomeric deletion 17p, see Miller-Dieker syndrome
  • Terminal chromosome 10q26 deletion syndrome, see 10q26 deletion syndrome
  • Terminal osseous dysplasia
  • Terminal osseous dysplasia and pigmentary defect syndrome, see Terminal osseous dysplasia
  • Terminal osseous dysplasia and pigmentary defects, see Terminal osseous dysplasia
  • Terminal osseous dysplasia with pigmentary defects , see Terminal osseous dysplasia
  • Terminal osseous dysplasia-pigmentary defects syndrome, see Terminal osseous dysplasia
  • 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
  • TETAMS, see Tetra-amelia syndrome
  • 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 megaloblastic anemia with diabetes mellitus and sensorineural hearing loss, 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
  • Thrombophilia 1 due to thrombin defect, see Prothrombin thrombophilia
  • Thrombophilia due to protein S deficiency, autosomal dominant, see Protein S deficiency
  • Thrombophilia due to protein S deficiency, autosomal recessive, see Protein S deficiency
  • Thrombotic thrombocytopenic purpura
  • Thymidine phosphorylase deficiency, see Mitochondrial neurogastrointestinal encephalopathy disease
  • Thyroxine-binding globulin quantitative trait locus, see Inherited thyroxine-binding globulin deficiency
  • 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
  • TODPD, see Terminal osseous dysplasia
  • 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 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, see Trisomy X
  • Triplo X syndrome, see Trisomy X
  • 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
  • Trisomy X, see Trisomy X
  • 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 of the urinary bladder, see Bladder cancer
  • Tumor, Wilms, see Wilms tumor
  • 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
  • Tyrosine hydroxylase-deficient dopa-responsive dystonia, see Tyrosine hydroxylase deficiency
  • Tyrosinemia
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