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Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program [T]
Browse A-Z | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program
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- 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 - See TARP 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
- T-cell leukemia - See Leukemia, T-cell, chronic
- T-cell LGL leukemia - See T-cell large granular lymphocyte leukemia
- 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 - See TEMPI 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 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, 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 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
- T-LGL - See T-cell large granular lymphocyte leukemia
- T-LGL leukemia - See T-cell large granular lymphocyte leukemia
- 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
- 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
- Toxoplasma embryofetopathy - See Congenital toxoplasmosis - not a rare disease
- Toxoplasma embryopathy - See Congenital toxoplasmosis - not a rare disease
- 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 - 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 - See Baraitser-Winter syndrome
- Trigonocephaly syndrome - See C 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 - See Radioulnar 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
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