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