Health Conditions
Explore the signs and symptoms, frequency, genetic cause, and inheritance pattern of various conditions, diseases, and syndromes.
- T-cell immunodeficiency, congenital alopecia, and nail dystrophy
- T1D, see type 1 diabetes
- T2 deficiency, see beta-ketothiolase deficiency
- 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
- 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
- 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
- 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 Langer-Giedion syndrome
- trichohepatoenteric syndrome
- trichorhinophalangeal syndrome type II, see Langer-Giedion syndrome
- 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 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
- Troisier-Hanot-Chauffard syndrome, see hereditary hemochromatosis
- Troyer syndrome
- TRPS II, see Langer-Giedion syndrome
- true microcephaly, see autosomal recessive primary microcephaly
- TS, see Turner syndrome
- TS, see Tourette syndrome
- TS, see Timothy syndrome
- TSD, see Tay-Sachs disease
- TSEs, see prion disease
- TTD, see trichothiodystrophy
- TTP, see thrombotic thrombocytopenic purpura
- 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
- 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 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 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 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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