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Diseases

Genetic and Rare Diseases Information Center (GARD)

Search for Rare or Genetic Diseases


Diseases Beginning With T

The purpose of the Rare Diseases and Related Terms list is to distribute information; although the list is updated regularly, it should not be used as a reference or guarantee that a condition is rare. The prevalence of a rare disease is usually an estimate and may change over time. A rare (or orphan) disease is generally considered to have a prevalence of fewer than 200,000 affected individuals in the United States.

* This symbol indicates that a condition is not rare but is one for which a question has been answered by the GARD Information Center.

Is Rare Condition? Disease Name
* T cell immunodeficiency primary
* T penetrans - See Tungiasis
* T3 resisitence - See Allan-Herndon-Dudley syndrome
* TA - See Takayasu arteritis
* Tabatznik syndrome
* Tabes dorsalis - See Syphilitic myelopathy
* Tachycardia hypertension microphthalmia and hyperglycinuria
* Tachyphemia - See Cluttering
* TAD - See Transient acantholytic dermatosis
* Taeniasis - See Cysticercosis
* Tajara pinheiro syndrome - See Pilo dento ungular dysplasia microcephaly
* Takayasu arteritis
* Takayasu disease - See Takayasu arteritis
* Tako tsubo syndrome - See Stress cardiomyopathy
* Tako-tsubo cardiomyopathy - See Stress cardiomyopathy
* Tako-tsubo syndrome - See Stress cardiomyopathy
*   Talipes - See Talipes equinovarus
*   Talipes equinovarus
* Talipes equinovarus, atrial septal defect, robin sequence, and persistence of left superior vena cava - See TARP syndrome
* Talonavicular coalition
* Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals
* Tang Hsi Ryu syndrome
* Tangier disease
* Tanycytic ependymoma (histologic variant) - See Ependymoma
* TAO - See Buerger disease
* TAP 2 deficiency - See Antigen-peptide-transporter 2 deficiency
* TAPVR - See Pulmonary venous return anomaly
* TAPVR1 - See Pulmonary venous return anomaly
* TAR syndrome
*   Tardive dyskinesia
*   Tardive dystonia - See Tardive dyskinesia
*   Tardive oral dyskinesia - See Tardive dyskinesia
* Tardive tibial muscular dystrophy - See Distal myopathy Markesbery-Griggs type
* Tarlov cyst - See Tarlov cysts
* Tarlov cysts
* TARP syndrome
* TARPS - See TARP syndrome
* Tarsal carpal coalition syndrome
* Tarsal tunnel syndrome
* Tarui disease - See Glycogen storage disease type 7
* TAT deficiency - See Tyrosinemia type 2
* Tattoo dysplasia - See Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
* TAU syndrome
* Taurodontia absent teeth sparse hair
* Taurodontism
* Taurodontism, microdontia, and dens invaginatus
* Tay syndrome - See IBIDS syndrome
* Taybi syndrome - See Oto-palato-digital syndrome type 1
* Taybi-Linder syndrome - See Microcephalic osteodysplastic primordial dwarfism type 1
* Tay-Sachs disease
* TB - See Tuberculosis
* TB meningitis - See Tuberculous meningitis
* TBCD - See Corneal dystrophy Thiel Behnke type
* TBDN - See Transient bullous dermolysis of the newborn
* TBM - See Tracheobronchomalacia
*   TBMN - See Thin basement membrane nephropathy
* TBS - See Townes-Brocks syndrome
* TCC - See Tarsal carpal coalition syndrome
* TCD - See Choroideremia
* T-cell childhood leukemia - See Pediatric T-cell leukemia
* T-cell immunodeficiency, congenital alopecia and nail dystrophy
* T-cell large granular lymphocyte leukemia - See Large granular lymphocyte leukemia
* T-cell leukemia - See Leukemia, T-cell, chronic
* T-cell lymphoma 1A
* T-cell lymphoma, AILD type - See Angioimmunoblastic T-cell lymphoma
* TCL1 - See T-cell lymphoma 1A
* TCL1A - See T-cell lymphoma 1A
* TCN1 deficiency - See Transcobalamin 1 deficiency
* TCO - See Nonmedullary thyroid carcinoma, with or without cell oxyphilia
* TCO 1 - See Nonmedullary thyroid carcinoma, with or without cell oxyphilia
* TCOF - See Treacher Collins syndrome
* TCPT - See Paris-Trousseau thrombocytopenia
* TCS - See Treacher Collins syndrome
* TCS3 - See Treacher Collins syndrome 3
*   TD - See Tardive dyskinesia
* TD2 - See Thanatophoric dysplasia type 2
* TDO syndrome - See Tricho-dento-osseous syndrome
* TDO syndrome 1 - See Tricho-dento-osseous syndrome 1
* TEC - See Transient erythroblastopenia of childhood
* Teebi Al-Saleh Hassoon syndrome - See Macrosomia with lethal microphthalmia
* Teebi hypertelorism syndrome - See Brachycephalofrontonasal dysplasia
* Teebi Kaurah syndrome
* Teebi Naguib Al Awadi syndrome
* Teebi Shaltout syndrome
* Teeth noneruption of with maxillary hypoplasia and genu valgum
* Teeth, congenital absence of, with taurodontia and sparse hair - See Taurodontia absent teeth sparse hair
* Tel Hashomer camptodactyly syndrome
* Telangiectasia - Erythrocytosis - Monoclonal gammopathy - Perinephric-fluid collections - Intrapulmonary shunting - See TEMPI syndrome
* Telangiectasia hereditary hemorrhagic type 1 - See Hereditary hemorrhagic telangiectasia
* Telangiectasia hereditary hemorrhagic type 2 - See Hereditary hemorrhagic telangiectasia type 2
* Telangiectasia hereditary hemorrhagic type 3 - See Hereditary hemorrhagic telangiectasia type 3
* Telangiectasia macularis eruptiva perstans - See Cutaneous mastocytosis
* Telangiectatic membranoproliferative glomerulonephritis - See Glomerulonephritis with sparse hair and telangiectases
* Telecanthus with associated abnormalities - See Opitz G/BBB syndrome
* Telecanthus, hypertelorism, strabismus, and pes cavus syndrome - See Krauss Herman Holmes syndrome
* Telencephalic leukoencephalopathy
* Telfer Sugar Jaeger syndrome
* TEMPI syndrome
* Temporal arteritis - See Giant cell arteritis
* Temporal epilepsy, familial
* Temporomandibular ankylosis
* Temtamy preaxial brachydactyly syndrome
* Temtamy syndrome
* Temtamy type brachydactyly - See Brachydactyly type A4
* TEN - See Toxic epidermal necrolysis
* Tendon Sheath Adherence, Superior Oblique - See Brown syndrome
* Tendons, extensor, of fingers, anomalous insertion of
* Tenosynovial giant cell tumors - See Pigmented villonodular synovitis
* Ter Haar syndrome - See Frank Ter Haar syndrome
* Teratoma with malignant transformation
* Terminal transverse defects of hand, unilateral - See Adactylia unilateral
* Terminal transverse defects of the limbs associated with congenital heart malformations - See Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
* Teschler-Nicola Killian syndrome - See Pallister-Killian mosaic syndrome
* Testicular cancer
* Testicular cancer, childhood
* Testicular feminization syndrome (formerly) - See Androgen insensitivity syndrome
* Testicular regression syndrome - See Anorchia
* Testotoxicosis
* Tetanus
* Tethered cord syndrome - See Occult spinal dysraphism
* Tethered spinal cord syndrome - See Occult spinal dysraphism
* Tetra X - See Tetrasomy X
* Tetra-amelia - See Tetra-amelia syndrome
* Tetraamelia multiple malformations X-linked
* Tetra-amelia syndrome
* Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities
* Tetraamelia with pulmonary hypoplasia
* Tetraamelia, autosomal recessive - See Tetra-amelia syndrome
* Tetra-amelia, autosomal recessive - See Tetra-amelia syndrome
* Tetra-amelia, ectodermal dysplasia, and lacrimal duct abnormality - See Madokoro Ohdo Sonoda syndrome
* Tetradactyly of both hands, hypoplasia of both fibulas and scapuloiliac hypoplasia - See Walbaum Titran Durieux Crepin syndrome
* Tetrahydrobiopterin deficiency
* Tetrahydrofolate-methyltransferase deficiency syndrome - See Arakawa's syndrome 2
* Tetralogy of Fallot
* Tetralogy of fallot and glaucoma
* Tetramelic mirror-image polydactyly - See Laurin-Sandrow syndrome
* Tetramelic monodactyly
* Tetramelic monodactyly with autosomal dominant inheritance - See Tetramelic monodactyly
* Tetraphocomelia-cleft palate syndrome - See Roberts syndrome
* Tetraploidy
* Tetraploidy syndrome - See Tetraploidy
* Tetrasomy 12p, mosaic - See Pallister-Killian mosaic syndrome
* Tetrasomy 15q - See Isodicentric chromosome 15 syndrome
* Tetrasomy 18p - See Chromosome 18p tetrasomy
* Tetrasomy 9p
* Tetrasomy chromosome 18p - See Chromosome 18p tetrasomy
* Tetrasomy of short arm of chromosome 9 - See Tetrasomy 9p
* Tetrasomy X
* TFP deficiency - See Mitochondrial trifunctional protein deficiency
* TGA - See Transient global amnesia
* TGA - See Transposition of the great arteries
* Thai hemorrhagic fever - See Dengue fever
* Thai symphalangism syndrome
* Thakker-Donnai syndrome
* Thalamic degeneration symmetrical infantile
* Thalamic degeneration, symmetric infantile
* Thalamic hyperesthetic anesthesia - See Central post-stroke pain
* Thalamic pain syndrome - See Central post-stroke pain
* Thalamic syndrome - See Central post-stroke pain
* Thalassemia
* Thalassemia intermedia - See Beta-thalassemia
* Thalassemia major - See Beta-thalassemia
* Thalassemia minor - See Beta-thalassemia
* Thalidomide embryopathy - See Fetal thalidomide syndrome
* Thanatophoric Dwarfism - See Thanatophoric dysplasia
* Thanatophoric dwarfism 1 - See Thanatophoric dysplasia type 1
* Thanatophoric dysplasia
* Thanatophoric dysplasia Glasgow variant
* Thanatophoric dysplasia torrance variant - See Platyspondylic lethal skeletal dysplasia Torrance type
* Thanatophoric dysplasia type 1
* Thanatophoric dysplasia type 2
* Thanatophoric dysplasia type I - See Thanatophoric dysplasia type 1
* Thanatophoric dysplasia type II - See Thanatophoric dysplasia type 2
* Thanatophoric dysplasia with Kleeblattschaedel - See Thanatophoric dysplasia type 2
* THC1 - See X-linked thrombocytopenia
* THC2 - See Thrombocytopenia 2
* THD - See Myotonia congenita autosomal dominant
* Theodor Hertz Goodman syndrome
* Thiamine deficiency - See Beriberi
* Thiamine responsive megaloblastic anemia syndrome
* Thiamine-responsive anemia syndrome - See Thiamine responsive megaloblastic anemia syndrome
* Thiamine-responsive myelodysplasia - See Thiamine responsive megaloblastic anemia syndrome
* Thick lips and oral mucosa - See Acromegaloid facial appearance syndrome
* Thickened earlobes with conductive deafness from incus-stapes abnormalities
* Thickened hair-bearing skin on the palms of both hands - See Hairy palms and soles
* Thiel Behnke corneal dystrophy - See Corneal dystrophy Thiel Behnke type
* Thiemann epiphyseal disease - See Osteoarthropathy of fingers familial
* Thiemann's disease - See Osteoarthropathy of fingers familial
* Thies Reis syndrome - See Deafness, progressive with stapes fixation
* Thies-Reis syndrome - See Deafness, progressive with stapes fixation
*   Thin basement membrane nephropathy
*   Thin membrane nephropathy - See Thin basement membrane nephropathy
* Thiolase deficiency
* Thiopurine methyltransferase deficiency - See Thiopurine S methyltranferase deficiency
* Thiopurine S methyltranferase deficiency
* Thiopurines, poor metabolism of - See Thiopurine S methyltranferase deficiency
* Thomas Jewett Raines syndrome - See Microphthalmia microtia fetal akinesia
* Thomas syndrome
* Thomas-Jewett-Raines syndrome - See Microphthalmia microtia fetal akinesia
* Thompson Baraitser syndrome
* Thomsen disease - See Myotonia congenita autosomal dominant
* Thomsen's disease - See Myotonia congenita autosomal dominant
* Thong Douglas Ferrante syndrome - See Short stature deafness neutrophil dysfunction
* Thoracic celosomia
* Thoracic dysplasia hydrocephalus syndrome
*   Thoracic outlet syndrome
* Thoracic pelvic phalangeal dystrophy - See Jeune syndrome
* Thoraco abdominal enteric duplication
* Thoraco limb dysplasia Rivera type
* Thoracolaryngopelvic dysplasia
* Thoraco-limb dysplasia - See Thoracomelic dysplasia
* Thoracomelic dysplasia
* Thoracopelvic dysostosis
* Thost-Unna disease - See Unna-Thost palmoplantar keratoderma
* Thost-Unna palmoplantar keratoderma - See Unna-Thost palmoplantar keratoderma
* THRB - See Generalized resistance to thyroid hormone
* Threadworm Infection - See Strongyloidiasis
* Three day measles - See Rubella
* Three M syndrome - See 3M syndrome
* Three-M slender-boned nanism - See 3M syndrome
* Thrombasthenia
* Thrombasthenia of Glanzmann and Naegeli - See Glanzmann thrombasthenia
* Thromboangiitis obliterans - See Buerger disease
* Thrombocytopathy asplenia miosis
* Thrombocytopenia 1 - See X-linked thrombocytopenia
* Thrombocytopenia 2
* Thrombocytopenia absent radii - See TAR syndrome
* Thrombocytopenia absent radius syndrome - See TAR syndrome
* Thrombocytopenia absent ulnar syndrome - See TAU syndrome
* Thrombocytopenia autosomal dominant 2 - See Thrombocytopenia 2
* Thrombocytopenia cerebellar hypoplasia short stature
* Thrombocytopenia congenital amegakaryocytic - See Congenital amegakaryocytic thrombocytopenia
* Thrombocytopenia cyclic - See Cyclic thrombocytopenia
* Thrombocytopenia multiple congenital anomaly - See Gardner Morrison Abbot syndrome
* Thrombocytopenia Paris-Trousseau type - See Paris-Trousseau thrombocytopenia
* Thrombocytopenia Robin sequence
* Thrombocytopenia with elevated serum IgA and renal disease
* Thrombocytopenia, acquired amegakaryocytic
* Thrombocytopenia, familial, with propensity to acute myelogenous leukemia - See Platelet disorder, familial, with associated myeloid malignancy
* Thrombocytopenia, x-linked - See X-linked thrombocytopenia
* Thrombocytopenia-hemangioma syndrome - See Hemangioma thrombocytopenia syndrome
* Thrombocytopenic purpura autoimmune - See Idiopathic thrombocytopenic purpura
* Thrombomodulin anomalies, familial
* Thrombophilia due to antithrombin III deficiency - See Congenital antithrombin deficiency type 3
* Thrombophlebitis of the subcutaneous veins of breast - See Mondor disease
* Thrombophlebitis of the subcutaneous veins of the anterior chest wall - See Mondor disease
* Thrombotic microangiopathy, familial - See Thrombotic thrombocytopenic purpura, congenital
* Thrombotic storm - See Catastrophic antiphospholipid syndrome
* Thrombotic thrombocytopenic purpura, acquired
* Thrombotic thrombocytopenic purpura, congenital
* Thrombotic thrombocytopenic purpura, familial - See Thrombotic thrombocytopenic purpura, congenital
* THS - See Tolosa Hunt syndrome
* Thumb absence, hypoplastic halluces - See Miura syndrome
* Thumb absent or hypoplastic - See Thumb deformity
* Thumb absent short stature immune deficiency
* Thumb ankylosis with mental retardation - See Piussan Lenaerts Mathieu syndrome
* Thumb congenital clasped with mental retardation - See Spastic paraplegia 1
* Thumb deformity
* Thumb deformity, alopecia, pigmentation anomaly
* Thumb hypoplastic - See Thumb deformity
* Thumb polydactyly - See Polydactyly preaxial type 1
* Thumb stiff brachydactyly mental retardation
* Thumbs and great toes short and abducted - See Brachydactyly Mononen type
* Thumbs, stiff, with brachydactyly type a1 and developmental delay - See Thumb stiff brachydactyly mental retardation
* Thunderclap headache
* Thurston syndrome - See Orofaciodigital syndrome 5
* Thymic aplasia - See Immune defect due to absence of thymus
* Thymic epithelial tumor
* Thymic hyperplasia
* Thymic-Renal-Anal-Lung dysplasia
* Thymidine phosphorylase deficiency - See Mitochondrial neurogastrointestinal encephalopathy syndrome
* Thymoma, adult - See Thymic epithelial tumor
* Thymoma, childhood
* Thyrocerebral-retinal syndrome
* Thyrocerebroretinal syndrome - See Thyrocerebral-retinal syndrome
* Thyroglossal duct cysts - See Thyroglossal tract cyst
* Thyroglossal duct cysts familial - See Thyroglossal tract cyst
* Thyroglossal tract cyst
* Thyroid agenesis
* Thyroid cancer, anaplastic
* Thyroid cancer, childhood
* Thyroid cancer, follicular
* Thyroid cancer, follicular, Hurthle cell type - See Hurthle cell thyroid cancer
* Thyroid cancer, Hurthle cell - See Hurthle cell thyroid cancer
* Thyroid cancer, medullary
* Thyroid cancer, pediatric - See Thyroid cancer, childhood
* Thyroid carcinoma, anaplastic - See Thyroid cancer, anaplastic
* Thyroid carcinoma, follicular - See Thyroid cancer, follicular
* Thyroid carcinoma, Hurthle cell - See Hurthle cell thyroid cancer
* Thyroid carcinoma, medullary - See Thyroid cancer, medullary
* Thyroid dysgenesis - See Thyroid agenesis
* Thyroid hormone plasma membrane transport defect
* Thyroid hormone receptor BETA - See Generalized resistance to thyroid hormone
* Thyroid hormone resistance due to T4 plasma membrane transport defect - See Thyroid hormone plasma membrane transport defect
* Thyroid hypoplasia - See Thyroid agenesis
* Thyroid, ectopic - See Thyroid agenesis
*   Thyroiditis, chronic - See Hashimoto's syndrome
* Thyroid-renal-digital anomalies - See Daneman Davy Mancer syndrome
* Thyroid-stimulating hormone, deficiency of - See Thyrotropin deficiency, isolated
* Thyrotoxic periodic paralysis
* Thyrotropin deficiency, isolated
* TIA - See Aganglionosis, total intestinal
* Tibia absent polydactyly arachnoid cyst
* Tibia vara - See Blount disease
* Tibia, absence of - See Absence of Tibia
* Tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies - See Tibia absent polydactyly arachnoid cyst
* Tibiae bowed radial anomalies osteopenia fracture
* Tibial aplasia ectrodactyly hydrocephalus
* Tibial aplasia with split-hand/split-foot deformity - See Cleft hand absent tibia
* Tibial hemimelia - See Absence of Tibia
* Tibial hemimelia cleft lip palate
* Tibial hemimelia- polydactyly- triphalangeal thumbs with fibular dimelia - See Hypoplasia of the tibia with polydactyly
* Tibial hemimelia-split hand/foot syndrome - See Richieri Costa Da Silva syndrome
* Tic Douloureux - See Trigeminal neuralgia
* Tick paralysis
* Tick-borne encephalitis
* Tièche-Jadassohn nevus
* Tietz albinism-deafness syndrome - See Tietz syndrome
* Tietz syndrome
* Tietze syndrome
* Tietze's syndrome - See Tietze syndrome
* Tight skin contracture syndrome, lethal
* Tiglic acidemia
* Timothy syndrome - See Long QT syndrome 8
* Tina - See Pinta
* Tinea capitis profunda - See Kerion celsi
* TINU - See Tubulointerstitial nephritis and uveitis
* TINU syndrome - See Tubulointerstitial nephritis and uveitis
* TKC - See Torticollis keloids cryptorchidism renal dysplasia
* TKCR syndrome - See Torticollis keloids cryptorchidism renal dysplasia
* TLPD - See Thoracolaryngopelvic dysplasia
* T-lymphocyte deficiency - See Immune defect due to absence of thymus
* T-Lymphocytopenia
* T-Lymphocytopenia idiopathic CD4-Positive - See Absent T lymphocytes
* TMAU - See Trimethylaminuria
* TMAuria - See Trimethylaminuria
* TMD - See Distal myopathy Markesbery-Griggs type
* TMJ Ankylosis - See Temporomandibular ankylosis
* TNDM - See Transient neonatal diabetes mellitus
* TNDM1 - See Transient neonatal diabetes mellitus
* TNF receptor-associated periodic syndrome - See Periodic fever, familial, autosomal dominant
* TNS - See Witkop syndrome
* TNX deficiency - See Ehlers-Danlos-like syndrome due to tenascin-X deficiency
* TOC - See Tylosis with esophageal cancer
* TODV syndrome - See Arthrogryposis and ectodermal dysplasia
* Toe syndactyly, telecanthus, anogenital and renal malformations - See STAR syndrome
* TOF - See Tetralogy of Fallot
* Togaviridae disease
* Togaviridae infection - See Togaviridae disease
* Togavirus infections - See Togaviridae disease
* Toledo type brachyolmia - See Spondyloepiphyseal dysplasia tarda Toledo type
* Tollner Horst Manzke syndrome
* Tolosa Hunt syndrome
* Tolosa-Hunt syndrome - See Tolosa Hunt syndrome
* Toluene embryopathy - See Hersh Podruch Weisskopk syndrome
* Tomaculous neuropathy - See Hereditary neuropathy with liability to pressure palsy
* Tome Brunet Fardeau syndrome
* Tomé-Brunet-Fardeau syndrome - See Tome Brunet Fardeau syndrome
* Tongue cancer
* Tongue carcinoma - See Tongue cancer
* Tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia on EEG - See West syndrome
* Tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes - See Adie syndrome
* Toni-Debre-Fanconi syndrome
* Toni-Fanconi syndrome
* Tonoki ohura niikawa syndrome - See Cryptomicrotia brachydactyly syndrome
* Tonoki syndrome
* Tooth and nail syndrome - See Witkop syndrome
* TORCH syndrome
* Torg syndrome - See Torg Winchester syndrome
* Torg Winchester syndrome
* Toriello Carey syndrome
* Toriello Higgins Miller syndrome - See Chondrodysplasia punctata syndrome
* Toriello Lacassie Droste syndrome - See Oculoectodermal syndrome
* Torsion dystonia
* Torsion dystonia 2 - See Dystonia 2, torsion, autosomal recessive
* Torsion dystonia 2, autosomal recessive type - See Dystonia 2, torsion, autosomal recessive
* Torsion dystonia adult onset mixed type - See Dystonia 6, torsion
* Torsion dystonia with onset in infancy
* Torsion dystonia, focal adult-onset - See Dystonia 7, torsion
* Torsion dystonia-Parkinsonism, Filipino type - See Dystonia 3, torsion, X-linked
* Torticollis keloids cryptorchidism renal dysplasia
* Torticollis, congenital - See Congenital torticollis
* Torticollis, familial
* Torulopsis glabrata (formerly) - See Candida glabrata
*   TOS - See Thoracic outlet syndrome
* Total anomalous pulmonary venous return - See Pulmonary venous return anomaly
* Total anonychia congenita and microcephaly - See Anonychia total with microcephaly
* Total anonychia congenita and microcephaly with normal intelligence - See Teebi Kaurah syndrome
* Total anonychia with microcephaly - See Anonychia total with microcephaly
* Total colorblindness with myopia - See Achromatopsia 3
* Total hexosaminidase deficiency - See Sandhoff disease
* Total Hypotrichosis, Mari type
* Total leukonychia - See Leukonychia totalis
* Total lipodystrophy and acromegaloid gigantism - See Congenital generalized lipodystrophy type 2
* Total uveitis - See Panuveitis
* Touraine Solente Gole syndrome - See Pachydermoperiostosis
*   Tourette disorder - See Tourette syndrome
*   Tourette syndrome
*   Tourette's syndrome - See Tourette syndrome
* Townes-Brocks syndrome
* Toxic encephalopathy - See Neurotoxicity syndromes
* Toxic epidermal necrolysis
* Toxocariasis
* Toxopachyosteose diaphysaire tibio-peroniere - See Bowing of legs, anterior with dwarfism
* TPMT deficiency - See Thiopurine S methyltranferase deficiency
* TPT - See Triphalangeal thumb non opposable
* TPT and PSD syndrome - See Triphalangeal thumb polysyndactyly syndrome
* Trabecular fiber myopathy
* Tracheal agenesis
* Tracheal agenesis without tracheoesophageal fistula
* Tracheobronchial stenosis, congenital - See Congenital tracheal stenosis
* Tracheobronchomalacia
* Tracheobronchomegaly
* Tracheobronchopathia osteochondroplastica - See Tracheobronchopathia osteoplastica
* Tracheobronchopathia osteoplastica
* Tracheoesophageal fistula
* Tracheoesophageal fistula protruding pinnae proximal interphalangeal symphalangism of fifth finger - See Blaichman syndrome
* Tracheoesophageal fistula symphalangism
* Tracheoesophageal fistula with or without esophageal atresia - See Tracheoesophageal fistula
* Tracheomalacia, congenital - See Congenital tracheomalacia
* Tracheopathia osteoplastica - See Tracheobronchopathia osteoplastica
* Tracheophageal fistula hypospadias
* Trachoma
* Tranebjaerg Svejgaard syndrome
* Transaldolase deficiency
* Transcobalamin 1 deficiency
* Transient acantholytic dermatosis
* Transient antero-apical dyskinesia - See Stress cardiomyopathy
* Transient Anton's syndrome - See Anton's syndrome
* Transient bullous dermolysis of the newborn
* Transient erythroblastopenia of childhood
* Transient familial hyperbilirubinemia - See Lucey-Driscoll syndrome
* Transient familial neonatal hyperbilirubinemia - See Lucey-Driscoll syndrome
* Transient global amnesia
* Transient monocular blindness - See Amaurosis fugax
* Transient neonatal arthrogryposis
* Transient neonatal diabetes mellitus
* Transitional cell cancer of the renal pelvis and ureter
* Transitional cell carcinoma
* Transketolase defect - See Wernicke-Korsakoff syndrome
* Transplant megalocytic interstitial nephritis (type) - See Megalocytic interstitial nephritis
* Transposition of the great arteries
* Transposition of the great arteries, congenitally corrected - See Congenitally corrected transposition of the great arteries
* Transposition of the great vessels, congenitally corrected - See Congenitally corrected transposition of the great arteries
* Transthyretin amyloid neuropathy - See Familial transthyretin amyloidosis
* Transthyretin amyloid polyneuropathy - See Familial transthyretin amyloidosis
* Transthyretin amyloidosis - See Familial transthyretin amyloidosis
* Transverse limb deficiency hemangioma
* Transverse myelitis
* Trapezoidocephaly synostosis syndrome - See Antley Bixler syndrome
* TRAPS - See Periodic fever, familial, autosomal dominant
* Treacher Collins syndrome
* Treacher Collins syndrome 3
* Treacher Collins-Franceschetti syndrome - See Treacher Collins syndrome
* Treft Sanborn Carey syndrome
* Trehalase deficiency
* Trehalose intolerance - See Trehalase deficiency
* Trembling chin - See Geniospasm
* Tremor familial essential, 1 - See Tremor hereditary essential, 1
* Tremor hereditary essential, 1
* Tremor hereditary essential, 2
* Tremor nystagmus duodenal ulcer - See Neuhauser Daly Magnelli syndrome
*   Tremor, hereditary essential, 1 - See Essential tremor
* Tremors, nystagmus and duodenal ulcers
* Treponema infection
* Treponema pertenue infection - See Yaws
* Treponemal infections - See Treponema infection
* Trevor disease - See Dysplasia epiphysealis hemimelica
* TREX1-related Aicardi-Goutieres syndrome - See Aicardi-Goutieres syndrome type 1
* Triangular tibia and fibular aplasia - See Mesomelic dysplasia Savarirayan type
* Triatrial heart - See Cor triatriatum
* Trichinellosis - See Trichinosis
* Trichiniasis - See Trichinosis
* Trichinosis
* Tricho odonto onycho dermal syndrome
* Tricho odonto onychodysplasia syndactyly dominant type
* Tricho onychic dysplasia
* Tricho onycho hypohidrotic dysplasia
* Tricho retino dento digital syndrome
* Trichocephaliasis - See Trichuriasis
* Trichodental dysplasia - See Trichodental syndrome
* Tricho-dental dysplasia - See Trichodental syndrome
* Trichodental dysplasia with hyperopia - See Pilodental dysplasia with refractive errors
* Trichodental syndrome
* Tricho-dental syndrome - See Trichodental syndrome
* Tricho-dento-osseous syndrome
* Tricho-dento-osseous syndrome 1
* Trichodermal syndrome and mental retardation - See Katsantoni Papadakou Lagoyanni syndrome
* Trichodermodysplasia with dental alterations - See Pinheiro Freire-Maia Miranda syndrome
* Trichodysplasia xeroderma
* Trichoepithelioma multiple familial - See Multiple familial trichoepithelioma
* Trichoepithelioma multiple familial 1 - See Multiple familial trichoepithelioma 1
* Trichoepithelioma multiple familial 2 - See Multiple familial trichoepithelioma 2
* Trichofolliculoma
* Tricho-hepato-enteric syndrome
* Trichomalacia
* Trichomegaly - See Trichomegaly, cataract, and hereditary spherocytosis
* Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina
* Trichomegaly, cataract, and hereditary spherocytosis
* Trichooculodermovertebral syndrome - See Arthrogryposis and ectodermal dysplasia
* Tricho-oculo-dermo-vertebral syndrome - See Arthrogryposis and ectodermal dysplasia
* Trichoodontoonychial dysplasia
* Tricho-odonto-onychodysplasia with syndactyly - See Trueb Burg Bottani syndrome
* Tricho-onycho-hypohidrotic ectodermal dysplasia - See Viljoen Winship syndrome
* Trichophytia profunda barbae - See Kerion celsi
* Trichophytia profunda capitis - See Kerion celsi
* Trichophyton infection - See Kerion celsi
* Trichorhinophalangeal syndrome type 1
* Trichorhinophalangeal syndrome type 2
* Trichorhinophalangeal syndrome type 3
* Trichorhinophalangeal syndrome type II - See Trichorhinophalangeal syndrome type 2
* Trichorrhexis nodosa syndrome
* Trichoscyphodysplasia
* Trichostasis spinulosa
* Trichothiodystrophy nonphotosensitive
* Trichothiodystrophy photosensitive
* Trichothiodystrophy with congenital ichtyosis - See IBIDS syndrome
* Trichothiodystrophy-neurocutaneous syndrome - See Trichorrhexis nodosa syndrome
* Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt - See Trichorrhexis nodosa syndrome
* Trichotillomania
* Trichuriasis
* Tricuspid atresia
* Tridione syndrome - See German syndrome
* Trifunctional protein deficiency type 1 - See LCHAD deficiency
* Trigeminal anesthesia, familial - See Corneal hypesthesia, familial
* Trigeminal neuralgia
* Trigger thumb
* Triglyceride storage disease with impaired long-chain fatty acid oxidation - See Chanarin-Dorfman syndrome
*   Trigonitis - See Interstitial cystitis
* Trigonobrachycephaly, bulbous bifid nose, macrostomia, micrognathia, acral anomalies, and hypotonia - See Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet
* Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet
* Trigonocephaly - bifid nose - acral anomalies - See Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet
* Trigonocephaly bifid nose acral anomalies
* Trigonocephaly C syndrome - See C syndrome
* Trigonocephaly ptosis coloboma - See Baraitser-Winter syndrome
* Trigonocephaly ptosis mental retardation
* Trigonocephaly ptosis mental retardation - See Baraitser-Winter syndrome
* Trigonocephaly syndrome - See C syndrome
* Trigonocephaly with short stature and developmental delay - See Hunter Rudd Hoffmann syndrome
* Trigonocephaly, short stature and developmental delay - See Say Meyer syndrome
* Trigonocephaly, short stature, and retarded psychomotor development - See Say Meyer syndrome
* Trigonomacrocephaly tibial defect polydactyly
* Trihydroxycholestanoylcoa oxidase isolated deficiency
* Trihydroxycoprostanic acid in bile - See Bile acid synthesis defect, congenital, 4
* Trihydroxycoprostanic acid to cholic acid - See Bile acid synthesis defect, congenital, 4
* Triiodothyronine resistence - See Allan-Herndon-Dudley syndrome
* Trimethadione embryopathy - See German syndrome
* Trimethadione syndrome - See German syndrome
* Trimethylaminuria
* Triopia
* Triose phosphate-isomerase deficiency
* Triphalangeal thumb and brachyectrodactyly syndrome - See Triphalangeal thumbs brachyectrodactyly
* Triphalangeal thumb and brachy-ectrodactyly syndrome - See Triphalangeal thumbs brachyectrodactyly
* Triphalangeal thumb non opposable
* Triphalangeal thumb polysyndactyly syndrome
* Triphalangeal thumbs and dislocation of patella - See Say-Field-Coldwell syndrome
* Triphalangeal thumbs brachyectrodactyly
* Triphalangeal thumbs thrombocytopathy deafness - See Schlegelberger Grote syndrome
* Triphalyngeal thumbs and brachyectrodactyly - See Carnevale Hernandez Castillo syndrome
* Triple A syndrome
* Triple X syndrome - See 47 XXX syndrome
* Triple-X chromosome syndrome - See 47 XXX syndrome
* Triple-X female - See 47 XXX syndrome
* Triplo X syndrome - See 47 XXX syndrome
* Triploid syndrome - See Triploidy
* Triploidy
* Triploidy syndrome - See Triploidy
* Trismus-pseudocamptodactyly syndrome
* Trisomy 10p - See Chromosome 10p duplication
* Trisomy 10q - See Chromosome 10q duplication
* Trisomy 11 mosaicism
* Trisomy 11p - See Chromosome 11p duplication
* Trisomy 11q - See Chromosome 11q duplication
* Trisomy 12 mosaicism
* Trisomy 12p - See Chromosome 12p duplication
* Trisomy 12q - See Chromosome 12q duplication
* Trisomy 13
* Trisomy 13 mosaicism - See Mosaic trisomy 13
* Trisomy 13q - See Chromosome 13q duplication
* Trisomy 14 mosaicism - See Mosaic trisomy 14
* Trisomy 14q - See Chromosome 14q duplication
* Trisomy 15 mosaicism - See Chromosome 15, trisomy mosaicism
* Trisomy 15q - See Chromosome 15q duplication
* Trisomy 16 - See Chromosome 16 trisomy
* Trisomy 16-18 (formerly) - See Trisomy 18
* Trisomy 16p - See Chromosome 16p duplication
* Trisomy 16q - See Chromosome 16q duplication
* Trisomy 17 - See Trisomy 17 mosaicism
* Trisomy 17 mosaicism
* Trisomy 17p - See Chromosome 17p duplication
* Trisomy 17q - See Chromosome 17q duplication
* Trisomy 18
* Trisomy 18p - See Chromosome 18p duplication
* Trisomy 18q - See Chromosome 18q duplication
* Trisomy 19p - See Chromosome 19p duplication
* Trisomy 19q - See Chromosome 19q duplication
* Trisomy 1p - See Chromosome 1p duplication
* Trisomy 1q - See Chromosome 1q duplication
* Trisomy 2 mosaicism
* Trisomy 20 - See Chromosome 20 trisomy
* Trisomy 20 mosaicism - See Chromosome 20 trisomy
* Trisomy 20p - See Chromosome 20p duplication
* Trisomy 20q - See Chromosome 20q duplication
*   Trisomy 21 - See Down syndrome
* Trisomy 21q - See Chromosome 21q duplication
* Trisomy 22
* Trisomy 22 mosaicism - See Mosaic trisomy 22
* Trisomy 2p - See Chromosome 2p duplication
* Trisomy 2q - See Chromosome 2q duplication
* Trisomy 3 mosaicism
* Trisomy 3p - See Chromosome 3p duplication
* Trisomy 3q - See Chromosome 3, trisomy 3q
* Trisomy 3q29 - See Chromosome 3q29 microduplication syndrome
* Trisomy 4p - See Chromosome 4p duplication
* Trisomy 4q - See Chromosome 4q duplication
* Trisomy 5p - See Chromosome 5p duplication
* Trisomy 5q - See Chromosome 5q duplication
* Trisomy 6 mosaicism - See Mosaic trisomy 6
* Trisomy 6p - See Chromosome 6p duplication
* Trisomy 6q - See Chromosome 6q duplication
* Trisomy 7 mosaicism - See Mosaic trisomy 7
* Trisomy 7p - See Chromosome 7p duplication
* Trisomy 7q - See Chromosome 7q duplication
* Trisomy 7q11.23 - See 7q11.23 duplication syndrome
* Trisomy 8 mosaicism - See Mosaic trisomy 8
* Trisomy 8p - See Chromosome 8p duplication
* Trisomy 8q - See Chromosome 8q duplication
* Trisomy 9 mosaicism - See Mosaic trisomy 9
* Trisomy 9p - See Chromosome 9p duplication
* Trisomy 9q - See Chromosome 9q duplication
* Trisomy chromosome 16 - See Chromosome 16 trisomy
* Trisomy chromosome 20 - See Chromosome 20 trisomy
* Trisomy E (formerly) - See Trisomy 18
* Trisomy X - See 47 XXX syndrome
* Trisomy Xq - See Chromosome Xq duplication
* TRMA - See Thiamine responsive megaloblastic anemia syndrome
* Trochlea of the humerus aplasia of
* Trochlear dysplasia
* Trochlear nerve palsy, familial congenital - See Familial congenital fourth cranial nerve palsy
* Trochleitis
* Tropheryma whippelii infection - See Whipple disease
* Trophoblastic tumor placental site
* Tropical enteropathy - See Tropical sprue
* Tropical spastic paraparesis (formerly) - See HTLV-1 associated myelopathy/tropical spastic paraparesis
* Tropical sprue
* Troyer syndrome - See Spastic paraplegia 20
* TRPS 2 - See Trichorhinophalangeal syndrome type 2
* TRPS 3 - See Trichorhinophalangeal syndrome type 3
* TRPS1 - See Trichorhinophalangeal syndrome type 1
* TRS - See Anorchia
* Trueb Burg Bottani syndrome
* Trypanosomiasis, Human East-African
* Trypanosomiasis, Human West-African
* Tryptophanuria with dwarfism
* Tsao Ellingson syndrome - See Infantile spasms broad thumbs
* TSD - See Tay-Sachs disease
* TSH deficiency - See Thyrotropin deficiency, isolated
* Tsukahara Azuno Kajii syndrome
* Tsukahara Kajii syndrome - See Hypertrichosis, anterior cervical
* Tsukahara syndrome - See Radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation
* Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation - See Radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation
* TTDN1 - See Trichothiodystrophy nonphotosensitive
* TTDP - See Trichothiodystrophy photosensitive
* TTP - See Thrombotic thrombocytopenic purpura, acquired
* TTP, congenital - See Thrombotic thrombocytopenic purpura, congenital
* TTR amyloid neuropathy - See Familial transthyretin amyloidosis
* TTTS - See Twin twin transfusion syndrome
* Tubercular meningitis - See Tuberculous meningitis
* Tuberculosis
* Tuberculous meningitis
* Tuberculous uveitis
* Tuberous sclerosis
* Tuberous sclerosis 1 - See Tuberous sclerosis
* Tuberous sclerosis complex - See Tuberous sclerosis
* Tuberous sclerosis polycystic kidney disease contiguous gene syndrome - See Polycystic kidneys, severe infantile with tuberous sclerosis
* Tuberous sclerosis, type 1
* Tuberous sclerosis, type 2
* Tubular aggregate myopathy
* Tubular solid adenoma - See Epithelial-myoepithelial carcinoma
* Tubulointerstitial nephritis and uveitis
* Tucker syndrome
* Tuffli Laxova syndrome - See Ectodermal dysplasia adrenal cyst
* Tufted angioma
* Tufted hair folliculitis
* Tufting enteropathy
* Tukel syndrome
* Tularemia
* Tumor necrosis factor receptor-associated periodic syndrome - See Periodic fever, familial, autosomal dominant
* Tumoral calcinosis, hyperphosphatemic, familial - See Hyperphosphatemic familial tumoral calcinosis
* Tunga penetrans - See Tungiasis
* Tungiasis
* Tunglang Savage Bellman syndrome
* Turban tumor syndrome - See Familial cylindromatosis
* Turban tumors - See Familial cylindromatosis
* Turcot syndrome
* Turner syndrome
* Turner Varny Syndrome - See Turner syndrome
* Turner-Kieser syndrome - See Nail patella syndrome
* Twenty-nail dystrophy
* Twin twin transfusion syndrome
* Twin-to-twin transfusion syndrome - See Twin twin transfusion syndrome
* Twisted hair - See Pili torti
* Twisted hair with nail dysplasias - See Pili torti onychodysplasia
* Tylosis
* Tylosis with esophageal cancer
* Type - Epigastric - defect in the cephalic fold - See Paraomphalocele
* Type - Hypogastric - defect in the caudal fold - See Paraomphalocele
*   Type 1 diabetes - See Diabetes mellitus type 1
* Type 1 maturity-onset diabetes of the young - See Maturity-onset diabetes of the young, type 1
* Type 1 neurofibromatosis - See Neurofibromatosis type 1
* Type 1 plasminogen deficiency
* Type 1 tracheomalacia - See Congenital tracheomalacia
* Type 1 Xanthinuria - See Xanthinuria type 1
* Type 14 glycogenosis - See Glycogen storage disease type 14
* Type 1A (minor laryngeal cleft) - See Laryngeal cleft
* type 2 (Andre syndrome) - See Oto-Palatal-digital syndrome
* Type 2 hyperprolinemia - See Hyperprolinemia type 2
* Type 2 maturity-onset diabetes of the young - See Maturity-onset diabetes of the young, type 2
* Type 2 punctate PPK - See Porokeratosis plantaris palmaris et disseminata
* Type 2 rhizomelic chondrodysplasia punctata - See Rhizomelic chondrodysplasia punctata type 2
* Type 2 tracheal agenesis - See Tracheal agenesis without tracheoesophageal fistula
* Type 2 Xanthinuria - See Xanthinuria type 2
* Type 3 burning mouth syndrome - See Burning mouth syndrome type 3
* Type 3 maturity-onset diabetes of the young - See Maturity-onset diabetes of the young, type 3
* Type 4 maturity-onset diabetes of the young - See Maturity-onset diabetes of the young, type 4
* Type 6 maturity-onset diabetes of the young - See Maturity-onset diabetes of the young, type 6
* Type 7 maturity-onset diabetes of the young - See Maturity-onset diabetes of the young, type 7
* Type 8 maturity-onset diabetes of the young - See Maturity-onset diabetes of the young, type 8
* Type 9 maturity-onset diabetes of the young - See Maturity-onset diabetes of the young, type 9
* Type E brachydactyly - See Brachydactyly type E
* Type I congenital dyserythropoietic anemia - See Congenital dyserythropoietic anemia type 1
* Type I punctate palmoplantar keratoderma - See Keratosis palmoplantaris papulosa
* Type II 3-beta-hydroxysteroid dehydrogenase deficiency - See 3-beta-hydroxysteroid dehydrogenase deficiency
* Type II Xanthinuria - See Xanthinuria type 2
* Type of genodermatosis - See Ulerythema ophryogenesis
* Type V hyperlipoproteinemia - See Hyperlipoproteinemia type 5
* Type V OI - See Osteogenesis imperfecta type 5
* Typhoid - See Typhoid fever
* Typhoid fever
* Typhus
* Typus degenerativus amstelodamensis - See Cornelia de Lange syndrome
* Tyrosinase-positive oculocutaneous albinism - See Oculocutaneous albinism type 2
* Tyrosine aminotransferase deficiency - See Tyrosinemia type 2
* Tyrosine hydroxylase deficiency - See Segawa syndrome, autosomal recessive
* Tyrosine transaminase deficiency - See Tyrosinemia type 2
* Tyrosinemia type 1
* Tyrosinemia type 2
* Tyrosinemia type 3
* Tyrosinemia type I - See Tyrosinemia type 1
* Tyrosinemia type II - See Tyrosinemia type 2
* Tyrosinemia type III - See Tyrosinemia type 3
* Tyrosine-oxidase temporary deficiency
* Tyrosinosis oculocutaneous type - See Tyrosinemia type 2