Health Conditions - Genetics Home Reference: T-20 [RARE DISEASES LIBRARY]

Health Conditions - Genetics Home Reference

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
• 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