T | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program

• T cell immunodeficiency primary
• T Cell Prolymphocytic Leukemia - See T-cell prolymphocytic leukemia
• T penetrans - See Tungiasis
• T3 resisitence - See Allan-Herndon-Dudley syndrome
• TA - See Takayasu arteritis
• Tabatznik syndrome
• Tabes dorsalis - See Syphilitic myelopathy
• Tachyphemia - See Cluttering
• TAD - See Grover's disease - not a rare disease
• Taeniasis - See Cysticercosis
• Takayasu arteritis
• Takayasu disease - See Takayasu arteritis
• Tako tsubo syndrome - See Broken heart syndrome
• Tako-tsubo cardiomyopathy - See Broken heart syndrome
• Tako-tsubo syndrome - See Broken heart syndrome
• Talipes - See Talipes equinovarus - not a rare disease
• Talipes equinovarus - not a rare disease
• Talipes equinovarus - atrial septal defect - Robin sequence - Persistence of the left superior vena cava - See TARP syndrome
• Talipes equinovarus, atrial septal defect, robin sequence, and persistence of left superior vena cava - See TARP syndrome
• Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome - SeeTARP syndrome
• Talonavicular coalition
• Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals
• Tang Hsi Ryu syndrome
• Tangier disease
• TANGO2 - See TANGO2-Related Metabolic Encephalopathy and Arrhythmias
• TANGO2 related disease - See TANGO2-Related Metabolic Encephalopathy and Arrhythmias
• TANGO2-Related Metabolic Encephalopathy and Arrhythmias
• 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 - not a rare disease
• Tardive dystonia - See Tardive dyskinesia - not a rare disease
• Tardive oral dyskinesia - See Tardive dyskinesia - not a rare disease
• 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 syndrome
• Taurodontism
• Taurodontism, microdontia, and dens invaginatus
• Taybi syndrome - See Oto-palato-digital syndrome type 1
• Taybi-Linder syndrome - See Microcephalic osteodysplastic primordial dwarfism type 1
• Tay-Sachs disease
• TAZ defect - See Barth syndrome
• TB - See Tuberculosis
• TB meningitis - See Tuberculous meningitis
• TBC1D24-Related Disorders
• TBCD - See Corneal dystrophy Thiel Behnke type
• TBDN - See Transient bullous dermolysis of the newborn
• TBM - See Tracheobronchomalacia
• TBMN - See Thin basement membrane nephropathy - not a rare disease
• 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
• T-cell prolymphocytic leukemia
• T-cell/histiocyte rich large B 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 - not a rare disease
• TD1 - See Thanatophoric dysplasia type 1
• TD2 - See Thanatophoric dysplasia type 2
• TDO syndrome - See Tricho-dento-osseous syndrome
• TDO syndrome 1 - See Tricho-dento-osseous syndrome 1
• TE fistula - See Tracheoesophageal fistula
• TEC - See Transient erythroblastopenia of childhood
• TECPR2 - See Autosomal recessive spastic paraplegia type 49
• Teebi Al-Saleh Hassoon syndrome - See Macrosomia with lethal microphthalmia
• Teebi hypertelorism syndrome - See Brachycephalofrontonasal dysplasia
• 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 syndrome
• TEF - See Tracheoesophageal fistula
• Tel Hashomer camptodactyly syndrome
• Telangiectasia - Erythrocytosis - Monoclonal gammopathy - Perinephric-fluid collections - Intrapulmonary shunting - SeeTEMPI syndrome
• Telangiectasia hereditary hemorrhagic type 2 - See Hereditary hemorrhagic telangiectasia type 2
• Telangiectasia hereditary hemorrhagic type 3 - See Hereditary hemorrhagic telangiectasia type 3
• Telangiectasia macularis eruptive perstans
• Telangiectatic cutaneous mastocytosis - See Telangiectasia macularis eruptive perstans
• 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
• Telfer Sugar Jaeger syndrome
• Telomeric deletion 4p - See Wolf-Hirschhorn syndrome
• Telomeric duplication 16p - See Chromosome 16p13.3 duplication
• Telomeric monosomy 3p - See Chromosome 3p- syndrome
• TEMPI syndrome
• Temple syndrome
• Temple syndrome due to maternal uniparental disomy of chromosome 14 - See Temple syndrome
• Temple-Baraitser 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
• Tendon Sheath Adherence, Superior Oblique - See Brown syndrome
• Tendons, extensor, of fingers, anomalous insertion of
• Tenosynovial giant cell tumor - See Pigmented villonodular synovitis
• 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 agenesis - See Anorchia
• Testicular cancer
• Testicular cancer, childhood
• Testicular feminization syndrome (formerly) - See Androgen insensitivity syndrome
• Testicular germ cell tumor - Another name for Testicular germ cell tumor
• Testicular germ cell tumor
• Testicular seminoma
• Testicular seminomatous germ cell tumor - See Testicular seminoma
• Testicular yolk sac tumor
• Testotoxicosis
• Tetanus
• Tethered cord syndrome
• Tethered spinal cord syndrome - See Tethered cord syndrome
• 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 (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency - See Hyperphenylalaninemia due to dehydratase deficiency
• Tetrahydrobiopterin deficiency
• Tetralogy of Fallot
• Tetralogy of fallot and glaucoma
• Tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities - See Odontotrichomelic syndrome
• 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 21
• 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
• TFR2-related hereditary hemochromatosis - See Hemochromatosis type 3
• TGCT - See Pigmented villonodular synovitis
• 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 pain syndrome
• Thalamic pain syndrome (former) - See Central pain syndrome
• Thalamic syndrome (former) - See Central pain syndrome
• Thalassemia
• Thalassemia, Hispanic gamma-delta-beta - See Beta-thalassemia
• Thalassemias, beta- - See Beta-thalassemia
• Thalidomide embryopathy - See Fetal thalidomide syndrome
• Thanatophoric Dwarfism - See Thanatophoric dysplasia
• Thanatophoric dwarfism - cloverleaf skull - See Thanatophoric dysplasia type 2
• Thanatophoric dwarfism 1 - See Thanatophoric dysplasia type 1
• Thanatophoric dwarfism type 1 - See Thanatophoric dysplasia type 1
• Thanatophoric dwarfism type 2 - See Thanatophoric dysplasia type 2
• Thanatophoric dwarfism-cloverleaf skull syndrome - See Thanatophoric dysplasia type 2
• Thanatophoric dysplasia
• 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
• Theodor Hertz Goodman syndrome
• Theodores superior limbic keratoconjunctivitis - See Superior limbic keratoconjunctivitis
• Theodores syndrome - See Superior limbic keratoconjunctivitis
• Therapy related acute myeloid leukemia and myelodysplastic syndrome - See Acute myeloid leukemia
• Thiamine deficiency - See Beriberi
• Thiamine metabolism dysfunction syndrome-5 - See Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
• Thiamine pyrophosphokinase deficiency - See Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
• 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 Progressive deafness with stapes fixation
• Thies-Reis syndrome - See Progressive deafness with stapes fixation
• Thin basement membrane nephropathy - not a rare disease
• Thin membrane nephropathy - See Thin basement membrane nephropathy - not a rare disease
• Thiopurine methyltransferase deficiency - See Thiopurine S methyltranferase deficiency
• Thiopurine S methyltranferase deficiency
• Thiopurines, poor metabolism of - See Thiopurine S methyltranferase deficiency
• THMD5 - See Childhood encephalopathy due to thiamine pyrophosphokinase 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 and Becker disease - See Myotonia congenita
• Thong Douglas Ferrante syndrome - See Short stature deafness neutrophil dysfunction
• Thoracic dysplasia hydrocephalus syndrome
• Thoracic outlet syndromes - not a rare disease
• Thoracic pelvic phalangeal dystrophy - See Jeune syndrome
• Thoraco abdominal enteric duplication
• Thoraco limb dysplasia Rivera type
• Thoraco-abdominal syndrome - See Pentalogy of Cantrell
• 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 congenital amegakaryocytic - See Congenital amegakaryocytic thrombocytopenia
• Thrombocytopenia cyclic - See Cyclic thrombocytopenia
• Thrombocytopenia Paris-Trousseau type - See Paris-Trousseau thrombocytopenia
• Thrombocytopenia Robin sequence
• Thrombocytopenia with elevated serum IgA and renal disease
• 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 Hereditary antithrombin deficiency
• Thrombophilia due to factor 2 defect - See Prothrombin-related thrombophilia
• Thrombophilia due to protein C deficiency, autosomal recessive - See Autosomal recessive protein C deficiency
• Thrombophlebitis of breast - See Mondor disease
• 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 Congenital thrombotic thrombocytopenic purpura
• Thrombotic storm - See Catastrophic antiphospholipid syndrome
• Thrombotic thrombocytopenic purpura, acquired
• Thrombotic thrombocytopenic purpura, congenital - See Congenital thrombotic thrombocytopenic purpura
• Thrombotic thrombocytopenic purpura, familial - See Congenital thrombotic thrombocytopenic purpura
• THS - See Tolosa Hunt syndrome
• Thumb absent or hypoplastic - See Thumb deformity
• 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 Preaxial polydactyly 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-Renal-Anal-Lung dysplasia
• Thymidine phosphorylase deficiency - See Mitochondrial neurogastrointestinal encephalopathy syndrome
• Thymoma, adult - See Thymic epithelial tumor
• Thymoma, childhood
• Thymoma-immunodeficiency syndrome - See Immunodeficiency with thymoma
• Thyrocerebral-retinal syndrome
• Thyrocerebroretinal syndrome - See Thyrocerebral-retinal syndrome
• Thyroglossal duct cysts - See Familial thyroglossal duct cyst
• Thyroglossal duct cysts familial - See Familial thyroglossal duct cyst
• Thyroid agenesis - See Thyroid dysgenesis
• Thyroid cancer, anaplastic - See Anaplastic thyroid cancer
• 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 Anaplastic thyroid cancer
• 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
• 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 dysgenesis
• Thyroid, ectopic - See Thyroid dysgenesis
• Thyroiditis, chronic - See Hashimoto's syndrome - not a rare disease
• 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
• Tibial aplasia with split-hand/split-foot deformity - See Cleft hand absent tibia
• Tibial hemimelia - See Absence of Tibia
• Tibial hemimelia- polydactyly- triphalangeal thumbs with fibular dimelia - See Hypoplasia of the tibia with polydactyly
• 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
• Tina - See Pinta
• Tinea capitis profunda - See Kerion celsi
• TINU - See Tubulointerstitial nephritis and uveitis
• TINU syndrome - See Tubulointerstitial nephritis and uveitis
• TIO - See Oncogenic osteomalacia
• 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
• TMAU - See Trimethylaminuria
• TMAuria - See Trimethylaminuria
• TMBTS - See Temple-Baraitser syndrome
• TMD - See Transient myeloproliferative syndrome
• TMEM165-CDG - See TMEM165-CDG (CDG-IIk)
• TMEM165-CDG (CDG-IIk)
• TMEM70 defect
• TMEM70-related mitochondrial encephalo-cardio-myopathy - See TMEM70 defect
• TMJ Ankylosis - See Temporomandibular ankylosis
• TNDM - See Transient neonatal diabetes mellitus
• TNDM1 - See Transient neonatal diabetes mellitus
• TNF receptor-associated periodic fever syndrome - See Tumor necrosis factor receptor-associated periodic syndrome
• TNF receptor-associated periodic syndrome - See Tumor necrosis factor receptor-associated periodic syndrome
• TNS - See Witkop syndrome
• TNX deficiency - See Classical-like Ehlers-Danlos syndrome
• 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
• 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 palsies
• 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 - See Fanconi syndrome
• Tonoki ohura niikawa syndrome - See Cryptomicrotia brachydactyly syndrome
• Tonoki syndrome
• Tooth and nail syndrome - See Witkop syndrome
• TORCH syndrome
• Torg Syndrome - See Multicentric osteolysis, nodulosis and arthropathy
• Torg-Winchester Syndrome - See Multicentric osteolysis, nodulosis and arthropathy
• Toriello Higgins Miller syndrome - See Chondrodysplasia punctata syndrome
• Toriello Lacassie Droste syndrome - See Oculoectodermal syndrome
• Toriello-Carey syndrome
• 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 DYT-THAP1
• Torsion dystonia-Parkinsonism, Filipino type - See X-linked dystonia-parkinsonism/Lubag
• Torticollis keloids cryptorchidism renal dysplasia
• Torticollis, congenital - See Congenital torticollis
• Torulopsis glabrata (formerly) - See Candida glabrata
• TOS - See Thoracic outlet syndromes - not a rare disease
• Total Amelia - See Tetra-amelia syndrome
• Total anomalous pulmonary venous return - See Pulmonary venous return anomaly
• 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
• Total uveitis - See Panuveitis
• Touraine Solente Gole syndrome - See Pachydermoperiostosis
• Tourette disorder - See Tourette syndrome - not a rare disease
• Tourette syndrome - not a rare disease
• Tourette's syndrome - See Tourette syndrome - not a rare disease
• Townes syndrome - See Townes-Brocks syndrome
• Townes-Brocks syndrome
• Toxic encephalopathy - See Neurotoxicity syndromes
• Toxic epidermal necrolysis - See Stevens-Johnson syndrome/toxic epidermal necrolysis
• Toxocariasis - not a rare disease
• Toxopachyosteose diaphysaire tibio-peroniere - See Bowing of legs, anterior with dwarfism
• TPI deficiency - See Triosephosphate isomerase deficiency
• TPMT deficiency - See Thiopurine S methyltranferase deficiency
• TPT - See Triphalangeal thumb non opposable
• Trabecular myopathy
• Tracheal agenesis
• Tracheobronchial stenosis, congenital - See Congenital tracheal stenosis
• Tracheobronchomalacia
• Tracheobronchomegaly
• Tracheobronchopathia osteochondroplastica - See Tracheobronchopathia osteoplastica
• Tracheobronchopathia osteoplastica
• Tracheoesophageal fistula
• Tracheoesophageal fistula with or without esophageal atresia - See Tracheoesophageal fistula
• Tracheomalacia, congenital - See Congenital tracheomalacia
• Tracheopathia osteoplastica - See Tracheobronchopathia osteoplastica
• Trachoma
• Trachyonychia - See Twenty-nail dystrophy
• Tranebjaerg Svejgaard syndrome
• Tranebjaerg-Svejgaard syndrome - See Tranebjaerg Svejgaard syndrome
• Transaldolase deficiency
• Transcobalamin 1 deficiency
• Transcortin deficiency - See Corticosteroid-binding globulin deficiency
• Transgrediens et progrediens palmoplantar keratoderma - See Keratoderma palmoplantaris transgrediens
• Transient abnormal myelopoiesis - See Transient myeloproliferative syndrome
• Transient acantholytic dermatosis - See Grover's disease - not a rare disease
• Transient antero-apical dyskinesia - See Broken heart syndrome
• 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 infantile liver failure
• Transient monocular blindness - See Amaurosis fugax
• Transient myeloproliferative disease - See Transient myeloproliferative syndrome
• Transient myeloproliferative syndrome
• Transient neonatal diabetes mellitus
• Transient reactive papulotranslucent acrokeratoderma - See Aquagenic syringeal acrokeratoderma
• Transitional cell cancer of the renal pelvis and ureter
• Transitional cell carcinoma
• 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 myelitis
• Trapezoidocephaly synostosis syndrome - See Antley Bixler syndrome
• TRAPS - See Tumor necrosis factor receptor-associated periodic syndrome
• Treacher Collins syndrome
• Treacher Collins syndrome 3
• Treacher Collins-Franceschetti syndrome - See Treacher Collins syndrome
• Treft-Sanborn-Carey syndrome - See Autosomal dominant optic atrophy plus syndrome
• Trehalase deficiency
• Trehalose intolerance - See Trehalase deficiency
• Trembling chin - See Hereditary geniospasm
• Tremor familial essential, 1 - See Tremor hereditary essential, 1
• Tremor hereditary essential, 1
• Tremor hereditary essential, 2
• Tremor, hereditary essential, 1 - See Essential tremor - not a rare disease
• 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
• 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
• Trichoepithelioma multiple familial 2 - See Multiple familial trichoepithelioma
• Trichofolliculoma
• Trichohepatoenteric syndrome
• Tricho-hepato-enteric syndrome - See Trichohepatoenteric syndrome
• Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina
• 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
• 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
• Trichoscyphodysplasia
• Trichostasis spinulosa
• Trichothiodystrophy
• Trichotillomania - not a rare disease
• Trichuriasis
• Tricuspid atresia
• Trigeminal anesthesia, familial - See Corneal hypesthesia, familial
• Trigeminal neuralgia
• Trigeminal trophic syndrome
• Trigger thumb
• Triglyceride storage disease with impaired long-chain fatty acid oxidation - See Chanarin-Dorfman syndrome
• Trigonitis - See Interstitial cystitis - not a rare disease
• Trigonobrachycephaly, bulbous bifid nose, macrostomia, micrognathia, acral anomalies, and hypotonia - SeeTrigonobrachycephaly, 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 - See Baraitser-Winter syndrome
• Trigonocephaly syndrome - See C syndrome
• Trigonocephaly, short stature and developmental delay - See Say Meyer syndrome
• Trigonocephaly, short stature, and retarded psychomotor development - See Say Meyer syndrome
• Trigonocephaly-short stature-developmental delay syndrome - See Say Meyer syndrome
• 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
• Trimethylaminuria
• Triopia
• Triose phosphate-isomerase deficiency - See Triosephosphate isomerase deficiency
• Triosephosphate isomerase deficiency
• TRIP12 mutation - See Autosomal dominant intellectual disability 49
• TRIP12 mutations - See Autosomal dominant intellectual disability 49
• 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 - See Preaxial polydactyly type 2
• 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 16p13.11 - See 16p13.11 microduplication syndrome
• Trisomy 16pter - See Chromosome 16p13.3 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 17q12 - See 17q12 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 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 - not a rare disease
• 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 3q duplication
• 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 8q12 - See 8q12 microduplication syndrome
• 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 Xp11.22p11.23 - See Microduplication Xp11.22-p11.23 syndrome
• Trisomy Xp11.22-p11.23 - See Microduplication Xp11.22-p11.23 syndrome
• Trisomy Xq - See Chromosome Xq duplication
• Trisomy Xq28 - See MECP2 duplication syndrome
• TRMA - See Thiamine responsive megaloblastic anemia syndrome
• Trochlea of the humerus aplasia of
• Trochlear dysplasia
• Trochlear nerve palsy, familial congenital - See Familial congenital palsy of trochlear nerve
• 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
• TRPS 2 - See Trichorhinophalangeal syndrome type 2
• TRPS 3 - See Trichorhinophalangeal syndrome type 3
• TRPS1 - See Trichorhinophalangeal syndrome type 1
• True microcephaly - See Autosomal recessive primary microcephaly
• True thymic hyperplasia
• 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
• TSGCT - See Pigmented villonodular synovitis
• TSH deficiency - See Thyrotropin deficiency, isolated
• Tsukahara Kajii syndrome - See Isolated anterior cervical hypertrichosis
• Tsukahara syndrome - See Radioulnar synostosis-microcephaly-scoliosis syndrome
• Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation - SeeRadioulnar synostosis-microcephaly-scoliosis syndrome
• TTP - See Thrombotic thrombocytopenic purpura, acquired
• TTP, congenital - See Congenital thrombotic thrombocytopenic purpura
• TTR amyloid neuropathy - See Familial transthyretin amyloidosis
• TTTS - See Twin to 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
• Tufted angioma
• Tufted hair folliculitis
• Tufting enteropathy
• Tukel syndrome
• Tularemia
• Tumefactive multiple sclerosis
• Tumid lupus erythematosus - See Lupus erythematosus tumidus
• Tumor necrosis factor receptor-associated periodic syndrome
• Tumor of cranial and spinal nerves
• Tumor of spleen - See Splenic neoplasm
• Tumor predisposition syndrome - See BAP1 tumor predisposition syndrome
• Tumor susceptibility linked to germline BAP1 mutations - See BAP1 tumor predisposition syndrome
• Tumoral calcinosis, hyperphosphatemic, familial - See Hyperphosphatemic familial tumoral calcinosis
• Tumor-induced osteomalacia - See Oncogenic osteomalacia
• 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
• TUSC3-CDG
• Twenty nail dystrophy - See Twenty-nail dystrophy
• Twenty-nail dystrophy
• Twin to twin transfusion syndrome
• Twin-to-twin transfusion syndrome - See Twin to twin transfusion syndrome
• Twisted hair - See Pili torti
• Twisted hair with nail dysplasias - See Pili torti onychodysplasia
• Tylosis - See Epidermolytic palmoplantar keratoderma
• Tylosis - oesophageal carcinoma - See Tylosis with esophageal cancer
• Tylosis with esophageal cancer
• Tylosis-oesophageal carcinoma syndrome - See 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 - not a rare disease
• Type 1 maturity-onset diabetes of the young - See Maturity-onset diabetes of the young
• Type 1 neurofibromatosis - See Neurofibromatosis type 1
• Type 1 plasminogen deficiency
• Type 1 syndactyly-microcephaly-intellectual disability syndrome - See Filippi syndrome
• Type 1 tracheomalacia - See Congenital tracheomalacia
• Type 1 Xanthinuria - See Xanthinuria type 1
• Type 14 glycogenosis - See PGM1-CDG
• type 2 (Andre syndrome) - See Oto-Palatal-digital syndrome
• Type 2 hyperprolinemia - See Hyperprolinemia type 2
• Type 2 MacTel - See Macular telangiectasia type 2 - not a rare disease
• Type 2 maturity-onset diabetes of the young - See Maturity-onset diabetes of the young
• Type 2 punctate PPK - See Punctate palmoplantar keratoderma type 2
• Type 2 rhizomelic chondrodysplasia punctata - See Rhizomelic chondrodysplasia punctata
• Type 2 Xanthinuria - See Xanthinuria type 2
• Type 3 Berardinelli-Seip congenital lipodystrophy - See Congenital generalized lipodystrophy type 3
• Type 3 maturity-onset diabetes of the young - See Maturity-onset diabetes of the young
• Type 4 maturity-onset diabetes of the young - See Maturity-onset diabetes of the young
• Type 6 maturity-onset diabetes of the young - See Maturity-onset diabetes of the young
• Type 7 maturity-onset diabetes of the young - See Maturity-onset diabetes of the young
• Type 8 maturity-onset diabetes of the young - See Maturity-onset diabetes of the young
• Type 9 maturity-onset diabetes of the young - See Maturity-onset diabetes of the young
• Type A insulin resistance syndrome - See Insulin-resistant acanthosis nigricans, type A
• Type E brachydactyly - See Brachydactyly type E
• Type I congenital dyserythropoietic anemia - See Congenital dyserythropoietic anemia type 1
• Type I hyperlipoproteinemia - See Familial lipoprotein lipase deficiency
• Type I Polyglandular Autoimmune Syndrome - See Autoimmune polyglandular syndrome type 1
• Type I punctate palmoplantar keratoderma - See Punctate palmoplantar keratoderma type I
• 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 V
• Typhoid - See Typhoid fever
• Typhoid fever
• Typhus
• Typical congenital nemaline myopathy
• Typical nemaline myopathy - See Typical congenital nemaline myopathy
• 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
• 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