Genetic diseases-T
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- 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
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