Browse the GARD list of rare diseases and related terms to find topics of interest to you. This list includes the main name for each condition, as well as alternate names. Inclusion on this list does not serve as official recognition by the NIH that a disease is rare. Some conditions that are not considered rare are on this list and are labeled accordingly.Read more about which diseases are included on the GARD website.
T 1/1
- 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
- Tachyphemia - See Cluttering
- TAD - See Grover's disease - not a rare disease
- Taeniasis - See Cysticercosis
- Tajara pinheiro syndrome - See Pilo dento ungular dysplasia microcephaly
- 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
- Tay syndrome - See Trichothiodystrophy
- 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/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
- 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 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 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
- Testicular germ cell tumor - Another name for 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 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 celosomia
- 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 cerebellar hypoplasia short stature
- 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
- 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 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 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
- 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
- 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 Torg Winchester syndrome
- Torg Winchester syndrome
- 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
- Torticollis, familial
- 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 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 - 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 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
- 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
- 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 acrokeratoderm
- 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 limb deficiency hemangioma
- 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 nystagmus duodenal ulcer - See Neuhauser Daly Magnelli syndrome
- Tremor, hereditary essential, 1 - See Essential tremor - not a rare disease
- 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
- Trichoepithelioma multiple familial 2 - See Multiple familial trichoepithelioma
- Trichofolliculoma
- Trichohepatoenteric syndrome
- Tricho-hepato-enteric syndrome - See Trichohepatoenteric syndrome
- Trichomalacia
- 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
- 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
- Trichoscyphodysplasia
- Trichostasis spinulosa
- Trichothiodystrophy
- Trichothiodystrophy with congenital ichtyosis - See Trichothiodystrophy
- Trichotillomania - not a rare disease
- Trichuriasis
- Tricuspid atresia
- Trifunctional protein deficiency type 1 - See LCHAD deficiency
- 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 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
- 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
- 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 Azuno Kajii syndrome
- 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
- 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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