T

OBSOLETE: Tachycardia-hypertension-microphthalmos-hyperglycinuria syndromeOphthalmologicalRetired termView → OBSOLETE: TACI-related selective deficiency of IgARetired termView → OBSOLETE: TauopathyRetired termView → OBSOLETE: Tauopathy with a major tau at 60 kDaRetired termView → OBSOLETE: Tauopathy with a major tau doublet at 60 and 64 kDaRetired termView → OBSOLETE: Tauopathy with a major tau doublet at 64 and 69 kDaRetired termView → OBSOLETE: Tauopathy with a major tau triplet at 60, 64 and 69 kDaRetired termView → OBSOLETE: Tauopathy with non-Alzheimer non-Pick frontal lobe degenerationRetired termView → OBSOLETE: Taussig-Bing syndromeRetired termView → OBSOLETE: Tay-Sachs disease, B1 variantRetired termView → OBSOLETE: Terminal limb defectsRetired termView → OBSOLETE: Terminal transverse defects of armRetired termView → OBSOLETE: Thoracolumbosacral spina bifida apertaRetired termView → OBSOLETE: Thoracolumbosacral spina bifida cysticaRetired termView → OBSOLETE: Thyroid pyramidal lobeEndocrineRetired termView → OBSOLETE: Tibial hemimelia, bilateralRetired termView → OBSOLETE: Tibial hemimelia, unilateralRetired termView → OBSOLETE: Torres-Aybar syndromeRetired termView → OBSOLETE: Total spina bifida apertaRetired termView → OBSOLETE: Total spina bifida cysticaRetired termView → OBSOLETE: Toxic or/and iatrogenic neuropathyRetired termView → OBSOLETE: Tracheo-esophageal fistula-hypospadias syndromeRetired termView → OBSOLETE: Transient neonatal arthrogryposisRetired termView → OBSOLETE: Tricho-oculo-dermo-vertebral syndromeRetired termView → OBSOLETE: Trichodermal syndrome-intellectual disability syndromeRetired termView → OBSOLETE: Trichomegaly-cataract-hereditary spherocytosis syndromeRetired termView → OBSOLETE: Tricuspid valve prolapseRetired termView → OBSOLETE: Trochlear nerve palsyRetired termView → OBSOLETE: True vascular thoracic outlet syndromeRetired termView → OBSOLETE: Truncal dystoniaRetired termView → OBSOLETE: Tuberculous meningitisRetired termView → OBSOLETE: Type 1 interferonopathy with immunodeficiencyImmuneRetired termView → T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zetaImmuneView → T-B+ severe combined immunodeficiency due to CD45 deficiencyImmuneView → T-B+ severe combined immunodeficiency due to gamma chain deficiencyImmuneView → T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiencyImmuneView → T-B+ severe combined immunodeficiency due to JAK3 deficiencyImmuneView → T-cell immunodeficiency with epidermodysplasia verruciformisImmuneView → T-cell immunodeficiency with thymic aplasiaImmuneView → T-cell large granular lymphocyte leukemia14 recruitingBloodView → T-cell non-Hodgkin lymphomaBloodGroupView → T-cell prolymphocytic leukemia15 recruitingBloodView → T-cell/histiocyte rich large B cell lymphoma6 recruitingBloodView → TAFRO syndromeView → Takayasu Arteritis19 recruitingImmuneView → Takenouchi-Kosaki syndromeView → Tako-Tsubo cardiomyopathy20 recruitingNeuromuscularView → TalaromycosisView → Tall stature-intellectual disability-renal anomalies syndromeRenalView → Tall stature-long halluces-multiple extra-epiphyses syndromeView → Talo-patello-scaphoid osteolysisView → Tangier diseaseView → TARDBP-related predominantly upper-limb distal myopathyNeuromuscularView → TARP syndromeView → Tarsal kink syndromeView → Tarsal-carpal coalition syndromeView → Tatton-Brown-Rahman syndromeView → Taurodontia-absent teeth-sparse hair syndromeView → Tay-Sachs Disease9 recruitingMetabolicView → Tay-Sachs disease, adult formView → Tay-Sachs disease, infantile formView → Tay-Sachs disease, juvenile formView → TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndromeNeurologicalView → TCR-alpha-beta-positive T-cell deficiencyView → Teebi-Shaltout syndromeView → Tel Hashomer camptodactyly syndromeView → Telangiectasia macularis eruptiva perstansOphthalmologicalView → Telecanthus-hypertelorism-strabismus-pes cavus syndromeView → Telethonin-related limb-girdle muscular dystrophy R7NeuromuscularView → TELO2-related intellectual disability-neurodevelopmental disorderView → Temperature-sensitive oculocutaneous albinism type 1View → TEMPI syndromeView → Temple syndrome1 recruitingView → Temple syndrome due to maternal uniparental disomy of chromosome 14View → Temple syndrome due to paternal 14q32.2 hypomethylationView → Temple syndrome due to paternal 14q32.2 microdeletionView → Temple-Baraitser syndromeView → Temporomandibular joint anomalyGroupView → Temtamy preaxial brachydactyly syndromeView → Temtamy syndromeView → Tenosynovial giant cell tumor7 recruitingView → Teratogenic Pierre Robin syndromeGroupView → Teratoma of the central nervous system1 recruitingView → Terminal extramedullary conus spinal cord lipomaView → Terminal myelocystoceleView → Terminal osseous dysplasia-pigmentary defects syndromeView → Terrien marginal degeneration2 recruitingView → Tessier number 4 facial cleftView → Tessier number 5 facial cleftView → Tessier number 6 facial cleftView → Tessier number 7 facial cleftView → Testicular agenesis2 recruitingView → Testicular regression syndromeView → Testicular seminomatous germ cell tumor5 recruitingView → Testicular teratoma1 recruitingView → Tetanus17 recruitingView → Tetraamelia-multiple malformations syndromeView → Tetragametic chimerism syndromeView → Tetrahydrobiopterin-responsive phenylketonuriaMetabolicView → Tetrahydrobiopterin-unresponsive phenylketonuriaMetabolicView → Tetralogy of Fallot18 recruitingView → Tetramelic monodactylyView → Tetraploidy syndromeView → Tetrasomy 18p syndromeView → Tetrasomy 21 syndromeView → Tetrasomy 5p syndromeView → Tetrasomy 9p syndromeView → Tetrasomy X syndrome3 recruitingView → TFR2-related hemochromatosisView → Thakker-Donnai syndromeView → Thalidomide embryopathyView → Thanatophoric dysplasiaView → Thanatophoric dysplasia type 1View → Thanatophoric dysplasia type 2View → Thanatophoric dysplasia, Glasgow variantView → Theca steroid-producing cell malignant tumor of ovary, not further specifiedView → Therapy related acute myeloid leukemia and myelodysplastic syndromeBloodGroupView → Thiamine-responsive encephalopathyNeurologicalView → Thiamine-responsive maple syrup urine diseaseMetabolicView → Thiamine-responsive megaloblastic anemia syndromeBloodView → Thickened earlobes-conductive deafness syndromeView → Thiel-Behnke corneal dystrophyOphthalmologicalView → Thiemann disease, familial formView → Thin Basement Membrane Nephropathy3 recruitingRenalView → Thin ribs-tubular bones-dysmorphism syndromeRenalView → Thinking epilepsyNeurologicalView → Third branchial cleft anomalyView → THOC6-related developmental delay-microcephaly-facial dysmorphism syndromeView → Thomas syndrome2 recruitingView → Thoracic dysplasia-hydrocephalus syndromeView → Thoracic malformationGroupView → Thoracic outlet syndrome2 recruitingView → Thoraco-abdominal enteric duplicationView → Thoracolaryngopelvic dysplasiaView → Thoracomelic dysplasiaView → Thost-Unna palmoplantar keratodermaDermatologicalView → Thrombocythemia with distal limb defectsView → Thrombocytopenia with congenital dyserythropoietic anemiaBloodView → Thrombocytopenia-absent radius syndromeBloodView → Thrombomodulin-related bleeding disorderView → Thrombotic Thrombocytopenic Purpura97 recruitingBloodView → Thumb deformity-alopecia-pigmentation anomaly syndromeView → Thumb stiffness-brachydactyly-intellectual disability syndromeView → Thygeson superficial punctate keratitisView → Thymic carcinoma24 recruitingOncologyView → Thymic epithelial neoplasmGroupView → Thymic neuroendocrine carcinoma5 recruitingEndocrineView → Thymic neuroendocrine tumor6 recruitingEndocrineView → Thymic tumorGroupView → Thymic-renal-anal-lung dysplasiaRenalView → Thymoma and Thymic Carcinoma19 recruitingOncologyView → Thymoma type A10 recruitingOncologyView → Thymoma type ABOncologyView → Thymoma type BOncologyView → Thymoma-hypogammaglobulinemia syndromeOncologyView → Thyrocerebrorenal syndromeRenalView → Thyroid ectopiaEndocrineView → Thyroid hemiagenesisEndocrineView → Thyroid hypoplasiaEndocrineView → Thyroid lymphoma5 recruitingBloodView → Thyrotoxic periodic paralysisView → Tibial aplasia-ectrodactyly syndromeView → Tibial hemimelia-polysyndactyly-triphalangeal thumb syndromeView → Tibial muscular dystrophyNeuromuscularView → Tick-borne encephalitis7 recruitingView → Tietz syndrome1 recruitingView → Timothy syndromeView → Timothy syndrome type 1View → Timothy syndrome type 2View → Titin-related limb-girdle muscular dystrophy R102 recruitingNeuromuscularView → TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndromeBloodView → TMEM165-CDGView → TMEM199-CDGView → TMEM70-related mitochondrial encephalo-cardio-myopathyNeuromuscularView → TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndromeView → TNP03-related limb-girdle muscular dystrophy D21 recruitingNeuromuscularView → Tolosa-Hunt syndromeView → Toluene embryopathyView → TomÚ-Brunet-Fardeau syndromeView → TOR1AIP1-related limb-girdle muscular dystrophy1 recruitingNeuromuscularView → Torg-Winchester syndromeView → Toriello-Carey syndromeView → Torpedo MaculopathyView → Torsade-de-pointes syndrome with short coupling intervalView → Torticollis-keloids-cryptorchidism-renal dysplasia syndromeRenalView → Total autosomal monosomy syndromeGroupView → Total autosomal trisomy syndromeGroupView → Total early-onset cataractView → Townes-Brocks syndromeView → Toxic dermatosisGroupView → Toxic epidermal necrolysis3 recruitingView → Toxic maculopathy due to antimalarial drugsView → Toxic oil syndromeView → Toxic or drug-related embryofetopathyGroupView → Toxin-mediated infectious botulismView → ToxocariasisView → Tracheal agenesis1 recruitingView → Tracheal anomalyGroupView → Tracheobronchopathia osteochondroplasticaRespiratoryView → TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndromeView → Transaldolase deficiencyView → Transcobalamin deficiencyView → Transcobalamin I deficiencyView → Transgrediens et progrediens palmoplantar keratodermaDermatologicalView → Transient congenital hypothyroidism due to maternal factorEndocrineGroupView → Transient congenital hypothyroidism due to neonatal factorEndocrineGroupView → Transient erythroblastopenia of childhoodView → Transient familial neonatal hyperbilirubinemiaView → Transient hypogammaglobulinemia of infancyView → Transient infantile hypertriglyceridemia and hepatosteatosisView → Transient myeloproliferative syndromeView → Transient neonatal diabetes mellitus2 recruitingView → Transient neonatal multiple acyl-CoA dehydrogenase deficiencyView → Transient neonatal myasthenia gravis1 recruitingNeuromuscularView → Transient predisposition to invasive pyogenic bacterial infectionView → Transient pseudohypoaldosteronismView → Transient tyrosinemia of the newbornMetabolicView → Transitional cell carcinoma of the corpus uteri1 recruitingOncologyView → Transitional extramedullary conus spinal cord lipomaView → Transketolase deficiencyView → Transplant-related bronchiolitis obliterans4 recruitingRespiratoryView → Transposition of the great arteriesGroupView → Transposition of the great arteries and conotruncal cardiac anomalyGroupView → Transthyretin Amyloidosis87 recruitingCardiovascularView → Transverse limb deficiency-hemangioma syndromeView → Transverse vaginal septumView → TRAPPC11-related limb-girdle muscular dystrophy R182 recruitingNeuromuscularView → Traumatic avascular necrosis10 recruitingView → Treacher-Collins syndrome3 recruitingView → Treft-Sanborn-Carey syndromeView → Trehalase deficiencyView → Tremor-ataxia-central hypomyelination syndromeNeurologicalView → Tremor-nystagmus-duodenal ulcer syndromeView → Trench feverView → Tricarboxylic acid cycle disorderGroupView → TrichinellosisView → Tricho-dento-osseous syndromeView → Tricho-retino-dento-digital syndromeView → Trichodental syndromeView → Trichodermodysplasia-dental alterations syndromeView → Trichodysplasia-amelogenesis imperfecta syndromeView → Trichodysplasia-xeroderma syndromeView → TrichofolliculomaView → Trichohepatoenteric syndromeView → Trichomegaly-retina pigmentary degeneration-dwarfism syndromeView → Trichoodontoonychial dysplasiaView → Trichorhinophalangeal syndrome type 1View → Trichorhinophalangeal syndrome type 2View → Trichothiodystrophy1 recruitingView → Tricuspid atresia2 recruitingView → Tricuspid valve agenesisView → Trigeminal neuralgia24 recruitingView → Trigeminal trophic syndromeView → Triglyceride deposit cardiomyovasculopathy1 recruitingView → Trigonocephaly-bifid nose-acral anomalies syndromeView → Trigonocephaly-broad thumbs syndromeView → Trigonocephaly-short stature-developmental delay syndromeView → TRIM22-related inflammatory bowel diseaseView → TRIM32-related limb-girdle muscular dystrophy R8NeuromuscularView → Triose phosphate-isomerase deficiencyView → Triphalangeal thumb-polysyndactyly syndromeView → Triphalangeal thumbs-brachyectrodactyly syndromeView → Triple A syndrome13 recruitingView → Triploidy syndrome1 recruitingView → Trismus-pseudocamptodactyly syndromeView → Trisomy 10p syndromeView → Trisomy 12p syndromeView → Trisomy 13 syndrome2 recruitingView → Trisomy 17p syndromeView → Trisomy 18 syndrome1 recruitingView → Trisomy 18p syndromeView → Trisomy 1q syndromeView → Trisomy 20p syndromeView → Trisomy 4p syndromeView → Trisomy 5p syndrome1 recruitingView → Trisomy 8p syndromeView → Trisomy 8q syndromeView → Trisomy 9p syndromeView → Trisomy X syndrome6 recruitingView → TritanopiaView → Tropical endomyocardial fibrosisView → Tropical pancreatitisView → Tropical spastic paraparesis3 recruitingView → TRPV4-related bone disorderGroupView → True congenital shoulder dislocationView → True myelomeningoceleView → True myeloschisisView → True unicornuate uterusView → TSH-secreting pituitary adenomaEndocrineView → Tuberous Sclerosis Complex23 recruitingNeurologicalView → Tubular aggregate myopathyNeuromuscularView → Tubulinopathy-associated dysgyriaView → Tubulocystic renal cell carcinomaRenalView → Tubulointerstitial nephritis and uveitis syndromeView → Tufted angioma1 recruitingView → TularemiaView → Tumor necrosis factor receptor 1 associated periodic syndromeView → Tumor of cranial and spinal nervesGroupView → Tumor of endocrine glandsGroupView → Tumor of hematopoietic and lymphoid tissuesGroupView → Tumor of meningesGroupView → Tumor of testis and paratestisGroupView → TungiasisView → Tunnel subaortic stenosisView → Turcot syndrome with polyposisView → Turner syndrome28 recruitingView → Turner syndrome due to structural X chromosome anomaliesView → Turnpenny-Fry syndromeView → Twin anemia-polycythemia sequence1 recruitingBloodView → Twin to twin transfusion syndrome5 recruitingView → Twin-reversed arterial perfusion sequenceView → Type 1 interferonopathyGroupView → Type 1 interferonopathy of childhoodGroupView → Type 11 collagen-related bone disorderGroupView → Type 2 collagen-related bone disorderGroupView → Typhoid5 recruitingView → Typhus-group rickettsiosisGroupView → Typical nemaline myopathyNeuromuscularView → Typical urticaria pigmentosaView → Tyrosinemia Type 11 recruitingMetabolicView → Tyrosinemia type 21 recruitingMetabolicView → Tyrosinemia type 31 recruitingMetabolicView →