List of rare diseases-T

NIH genetic and rare disease info

• NIH info on List of rare diseases-T

List of rare diseases-T is a rare disease.

• T cell immunodeficiency primary
• T Cell Prolymphocytic Leukemia
• T penetrans
• T3 resisitence
• TA
• Tabatznik syndrome
• Tabes dorsalis
• Tachyphemia
• TAD- not a rare disease.
• Taeniasis
• Takayasu arteritis
• Takayasu disease
• Tako tsubo syndrome
• Tako-tsubo cardiomyopathy
• Tako-tsubo syndrome
• Talipes- not a rare disease.
• Talipes equinovarus- not a rare disease.
• Talipes equinovarus - atrial septal defect - Robin sequence - Persistence of the left superior vena cava
• Talipes equinovarus, atrial septal defect, robin sequence, and persistence of left superior vena cava
• Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome
• Talonavicular coalition
• Talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals
• Tang Hsi Ryu syndrome
• Tangier disease
• TANGO2
• TANGO2 related disease
• TANGO2-Related Metabolic Encephalopathy and Arrhythmias
• Tanycytic ependymoma (histologic variant)
• TAO
• TAP 2 deficiency
• TAPVR
• TAPVR1
• TAR syndrome
• Tardive dyskinesia- not a rare disease.
• Tardive dystonia- not a rare disease.
• Tardive oral dyskinesia- not a rare disease.
• Tarlov cyst
• Tarlov cysts
• TARP syndrome
• TARPS
• Tarsal carpal coalition syndrome
• Tarsal tunnel syndrome
• Tarui disease
• TAT deficiency
• Tattoo dysplasia
• TAU syndrome
• Taurodontia, absent teeth, sparse hair syndrome
• Taurodontism
• Taurodontism, microdontia, and dens invaginatus
• Taybi syndrome
• Taybi-Linder syndrome
• Tay-Sachs disease
• TAZ defect
• TB
• TB meningitis
• TBC1D24-Related Disorders
• TBCD
• TBDN
• TBM
• TBMN- not a rare disease.
• TBS
• TCC
• TCD
• T-cell childhood leukemia
• T-cell immunodeficiency, congenital alopecia and nail dystrophy
• T-cell large granular lymphocyte leukemia
• T-cell leukemia
• T-cell lymphoma 1A
• T-cell lymphoma, AILD type
• T-cell prolymphocytic leukemia
• T-cell/histiocyte rich large B cell lymphoma
• TCL1
• TCL1A
• TCN1 deficiency
• TCO
• TCO 1
• TCOF
• TCPT
• TCS
• TCS3
• TD- not a rare disease.
• TD1
• TD2
• TDO syndrome
• TDO syndrome 1
• TE fistula
• TEC
• TECPR2
• Teebi Al-Saleh Hassoon syndrome
• Teebi hypertelorism 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
• TEF
• Tel Hashomer camptodactyly syndrome
• Telangiectasia - Erythrocytosis - Monoclonal gammopathy - Perinephric-fluid collections - Intrapulmonary shunting
• Telangiectasia hereditary hemorrhagic type 2
• Telangiectasia hereditary hemorrhagic type 3
• Telangiectasia macularis eruptive perstans
• Telangiectatic cutaneous mastocytosis
• Telangiectatic membranoproliferative glomerulonephritis
• Telecanthus with associated abnormalities
• Telecanthus, hypertelorism, strabismus, and pes cavus syndrome
• Telfer Sugar Jaeger syndrome
• Telomeric deletion 4p
• Telomeric duplication 16p
• Telomeric monosomy 3p
• TEMPI syndrome
• Temple syndrome
• Temple syndrome due to maternal uniparental disomy of chromosome 14
• Temple-Baraitser syndrome
• Temporal arteritis
• Temporal epilepsy, familial
• Temporomandibular ankylosis
• Temtamy preaxial brachydactyly syndrome
• Temtamy syndrome
• Temtamy type brachydactyly
• Tendon Sheath Adherence, Superior Oblique
• Tendons, extensor, of fingers, anomalous insertion of
• Tenosynovial giant cell tumor
• Tenosynovial giant cell tumors
• Ter Haar syndrome
• Teratoma with malignant transformation
• Terminal transverse defects of hand, unilateral
• Terminal transverse defects of the limbs associated with congenital heart malformations
• Teschler-Nicola Killian syndrome
• Testicular agenesis
• Testicular cancer
• Testicular feminization syndrome (formerly)
• Testicular germ cell tumor - Another name for Testicular germ cell tumor
• Testicular germ cell tumor
• Testicular seminoma
• Testicular seminomatous germ cell tumor
• Testicular yolk sac tumor
• Testotoxicosis
• Tetanus
• Tethered cord syndrome
• Tethered spinal cord syndrome
• Tetra X
• Tetra-amelia
• Tetraamelia multiple malformations X-linked
• Tetra-amelia syndrome
• Tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities
• Tetraamelia with pulmonary hypoplasia
• Tetraamelia, autosomal recessive
• Tetra-amelia, autosomal recessive
• Tetra-amelia, ectodermal dysplasia, and lacrimal duct abnormality
• Tetradactyly of both hands, hypoplasia of both fibulas and scapuloiliac hypoplasia
• Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency
• Tetrahydrobiopterin deficiency
• Tetralogy of Fallot
• Tetralogy of fallot and glaucoma
• Tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities
• Tetramelic mirror-image polydactyly
• Tetramelic monodactyly
• Tetramelic monodactyly with autosomal dominant inheritance
• Tetraphocomelia-cleft palate syndrome
• Tetraploidy
• Tetraploidy syndrome
• Tetrasomy 12p, mosaic
• Tetrasomy 15q
• Tetrasomy 18p
• Tetrasomy 21
• Tetrasomy 9p
• Tetrasomy chromosome 18p
• Tetrasomy of short arm of chromosome 9
• Tetrasomy X
• TFP deficiency
• TFR2-related hereditary hemochromatosis
• TGCT
• Thai hemorrhagic fever
• Thai symphalangism syndrome
• Thakker-Donnai syndrome
• Thalamic degeneration symmetrical infantile
• Thalamic degeneration, symmetric infantile
• Thalamic hyperesthetic anesthesia
• Thalamic pain syndrome (former)
• Thalamic syndrome (former)
• Thalassemia
• Thalassemia, Hispanic gamma-delta-beta
• Thalassemias, beta-
• Thalidomide embryopathy
• Thanatophoric Dwarfism
• Thanatophoric dwarfism - cloverleaf skull
• Thanatophoric dwarfism 1
• Thanatophoric dwarfism type 1
• Thanatophoric dwarfism type 2
• Thanatophoric dwarfism-cloverleaf skull syndrome
• Thanatophoric dysplasia
• Thanatophoric dysplasia torrance variant
• Thanatophoric dysplasia type 1
• Thanatophoric dysplasia type 2
• Thanatophoric dysplasia type I
• Thanatophoric dysplasia type II
• Thanatophoric dysplasia with Kleeblattschaedel
• THC1
• THC2
• Theodor Hertz Goodman syndrome
• Theodores superior limbic keratoconjunctivitis
• Theodores syndrome
• Therapy related acute myeloid leukemia and myelodysplastic syndrome
• Thiamine deficiency
• Thiamine metabolism dysfunction syndrome-5
• Thiamine pyrophosphokinase deficiency
• Thiamine responsive megaloblastic anemia syndrome
• Thiamine-responsive anemia syndrome
• Thiamine-responsive myelodysplasia
• Thick lips and oral mucosa
• Thickened earlobes with conductive deafness from incus-stapes abnormalities
• Thickened hair-bearing skin on the palms of both hands
• Thiel Behnke corneal dystrophy
• Thiemann epiphyseal disease
• Thiemann's disease
• Thies Reis syndrome
• Thies-Reis syndrome
• Thin basement membrane nephropathy- not a rare disease.
• Thin membrane nephropathy- not a rare disease.
• Thiopurine methyltransferase deficiency
• Thiopurine S methyltranferase deficiency
• Thiopurines, poor metabolism of
• THMD5
• Thomas Jewett Raines syndrome
• Thomas syndrome
• Thomas-Jewett-Raines syndrome
• Thompson Baraitser syndrome
• Thomsen and Becker disease
• Thong Douglas Ferrante syndrome
• Thoracic dysplasia hydrocephalus syndrome
• Thoracic outlet syndromes- not a rare disease.
• Thoracic pelvic phalangeal dystrophy
• Thoraco abdominal enteric duplication
• Thoraco limb dysplasia Rivera type
• Thoraco-abdominal syndrome
• Thoracolaryngopelvic dysplasia
• Thoraco-limb dysplasia
• Thoracomelic dysplasia
• Thoracopelvic dysostosis
• Thost-Unna disease
• Thost-Unna palmoplantar keratoderma
• THRB
• Threadworm Infection
• Three day measles
• Three M syndrome
• Three-M slender-boned nanism
• Thrombasthenia
• Thrombasthenia of Glanzmann and Naegeli
• Thromboangiitis obliterans
• Thrombocytopathy asplenia miosis
• Thrombocytopenia 1
• Thrombocytopenia 2
• Thrombocytopenia absent radii
• Thrombocytopenia absent radius syndrome
• Thrombocytopenia absent ulnar syndrome
• Thrombocytopenia autosomal dominant 2
• Thrombocytopenia congenital amegakaryocytic
• Thrombocytopenia cyclic
• Thrombocytopenia Paris-Trousseau type
• Thrombocytopenia Robin sequence
• Thrombocytopenia with elevated serum IgA and renal disease
• Thrombocytopenia, x-linked
• Thrombocytopenia-hemangioma syndrome
• Thrombocytopenic purpura autoimmune
• Thrombomodulin anomalies, familial
• Thrombophilia due to antithrombin III deficiency
• Thrombophilia due to factor 2 defect
• Thrombophilia due to protein C deficiency, autosomal recessive
• Thrombophlebitis of breast
• Thrombophlebitis of the subcutaneous veins of breast
• Thrombophlebitis of the subcutaneous veins of the anterior chest wall
• Thrombotic microangiopathy, familial
• Thrombotic storm
• Thrombotic thrombocytopenic purpura, acquired
• Thrombotic thrombocytopenic purpura, congenital
• Thrombotic thrombocytopenic purpura, familial
• THS
• Thumb absent or hypoplastic
• Thumb ankylosis with mental retardation
• Thumb congenital clasped with mental retardation
• Thumb deformity
• Thumb deformity, alopecia, pigmentation anomaly
• Thumb hypoplastic
• Thumb polydactyly
• Thumb stiff brachydactyly mental retardation
• Thumbs and great toes short and abducted
• Thumbs, stiff, with brachydactyly type a1 and developmental delay
• Thunderclap headache
• Thurston syndrome
• Thymic aplasia
• Thymic epithelial tumor
• Thymic-Renal-Anal-Lung dysplasia
• Thymidine phosphorylase deficiency
• Thymoma, adult
• Thymoma, childhood
• Thymoma-immunodeficiency syndrome
• Thyrocerebral-retinal syndrome
• Thyrocerebroretinal syndrome
• Thyroglossal duct cysts
• Thyroglossal duct cysts familial
• Thyroid agenesis
• Thyroid cancer, anaplastic
• Thyroid cancer, follicular
• Thyroid cancer, follicular, Hurthle cell type
• Thyroid cancer, Hurthle cell
• Thyroid cancer, medullary
• Thyroid carcinoma, anaplastic
• Thyroid carcinoma, follicular
• Thyroid carcinoma, Hurthle cell
• Thyroid carcinoma, medullary
• Thyroid dysgenesis
• Thyroid hormone plasma membrane transport defect
• Thyroid hormone receptor BETA
• Thyroid hormone resistance due to T4 plasma membrane transport defect
• Thyroid hypoplasia
• Thyroid, ectopic
• Thyroiditis, chronic- not a rare disease.
• Thyroid-renal-digital anomalies
• Thyroid-stimulating hormone, deficiency of
• Thyrotoxic periodic paralysis
• Thyrotropin deficiency, isolated
• TIA
• Tibia absent polydactyly arachnoid cyst
• Tibia vara
• Tibia, absence of
• Tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies
• Tibial aplasia with split-hand/split-foot deformity
• Tibial hemimelia
• Tibial hemimelia- polydactyly- triphalangeal thumbs with fibular dimelia
• Tic Douloureux
• Tick paralysis
• Tick-borne encephalitis
• Tièche-Jadassohn nevus
• Tietz albinism-deafness syndrome
• Tietz syndrome
• Tietze syndrome
• Tietze's syndrome
• Tight skin contracture syndrome, lethal
• Tiglic acidemia
• Timothy syndrome
• Tina
• Tinea capitis profunda
• TINU
• TINU syndrome
• TIO
• TKC
• TKCR syndrome
• TLPD
• T-lymphocyte deficiency
• TMAU
• TMAuria
• TMBTS
• TMD
• TMEM165-CDG
• TMEM165-CDG (CDG-IIk)
• TMEM70 defect
• TMEM70-related mitochondrial encephalo-cardio-myopathy
• TMJ Ankylosis
• TNDM
• TNDM1
• TNF receptor-associated periodic fever syndrome
• TNF receptor-associated periodic syndrome
• TNS
• TNX deficiency
• TOC
• TODV syndrome
• Toe syndactyly, telecanthus, anogenital and renal malformations
• TOF
• Togaviridae disease
• Togaviridae infection
• Togavirus infections
• Tollner Horst Manzke syndrome
• Tolosa Hunt syndrome
• Tolosa-Hunt syndrome
• Toluene embryopathy
• Tomaculous neuropathy
• Tongue cancer
• Tongue carcinoma
• Tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia on EEG
• Tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes
• Toni-Debre-Fanconi syndrome
• Tonoki ohura niikawa syndrome
• Tonoki syndrome
• Tooth and nail syndrome
• TORCH syndrome
• Torg Syndrome
• Torg-Winchester Syndrome
• Toriello Higgins Miller syndrome
• Toriello Lacassie Droste syndrome
• Toriello-Carey syndrome
• Torsion dystonia 2
• Torsion dystonia 2, autosomal recessive type
• Torsion dystonia adult onset mixed type
• Torsion dystonia-Parkinsonism, Filipino type
• Torticollis keloids cryptorchidism renal dysplasia
• Torticollis, congenital
• Torulopsis glabrata (formerly)
• TOS- not a rare disease.
• Total Amelia
• Total anomalous pulmonary venous return
• Total colorblindness with myopia
• Total hexosaminidase deficiency
• Total Hypotrichosis, Mari type
• Total leukonychia
• Total lipodystrophy and acromegaloid gigantism
• Total uveitis
• Touraine Solente Gole syndrome
• Tourette disorder- not a rare disease.
• Tourette syndrome- not a rare disease.
• Tourette's syndrome- not a rare disease.
• Townes syndrome
• Townes-Brocks syndrome
• Toxic encephalopathy
• Toxic epidermal necrolysis
• Toxocariasis- not a rare disease.
• Toxopachyosteose diaphysaire tibio-peroniere
• Toxoplasma embryofetopathy- not a rare disease.
• Toxoplasma embryopathy- not a rare disease.
• TPI deficiency
• TPMT deficiency
• TPT
• Trabecular myopathy
• Tracheal agenesis
• Tracheobronchial stenosis, congenital
• Tracheobronchomalacia
• Tracheobronchomegaly
• Tracheobronchopathia osteochondroplastica
• Tracheobronchopathia osteoplastica
• Tracheoesophageal fistula
• Tracheoesophageal fistula with or without esophageal atresia
• Tracheomalacia, congenital
• Tracheopathia osteoplastica
• Trachoma
• Trachyonychia
• Tranebjaerg Svejgaard syndrome
• Tranebjaerg-Svejgaard syndrome
• Transaldolase deficiency
• Transcobalamin 1 deficiency
• Transcortin deficiency
• Transgrediens et progrediens palmoplantar keratoderma
• Transient abnormal myelopoiesis
• Transient acantholytic dermatosis- not a rare disease.
• Transient antero-apical dyskinesia
• Transient Anton's syndrome
• Transient bullous dermolysis of the newborn
• Transient erythroblastopenia of childhood
• Transient familial hyperbilirubinemia
• Transient familial neonatal hyperbilirubinemia
• Transient global amnesia
• Transient infantile liver failure
• Transient monocular blindness
• Transient myeloproliferative disease
• Transient myeloproliferative syndrome
• Transient neonatal diabetes mellitus
• Transient reactive papulotranslucent acrokeratoderma
• Transitional cell cancer of the renal pelvis and ureter
• Transitional cell carcinoma
• Transplant megalocytic interstitial nephritis (type)
• Transposition of the great arteries
• Transposition of the great arteries, congenitally corrected
• Transposition of the great vessels, congenitally corrected
• Transthyretin amyloid neuropathy
• Transthyretin amyloid polyneuropathy
• Transthyretin amyloidosis
• Transverse myelitis
• Trapezoidocephaly synostosis syndrome
• TRAPS
• Treacher Collins syndrome
• Treacher Collins syndrome 3
• Treacher Collins-Franceschetti syndrome
• Treft-Sanborn-Carey syndrome
• Trehalase deficiency
• Trehalose intolerance
• Trembling chin
• Tremor familial essential, 1
• Tremor hereditary essential, 1
• Tremor hereditary essential, 2
• Tremor, hereditary essential, 1- not a rare disease.
• Treponema infection
• Treponema pertenue infection
• Treponemal infections
• Trevor disease
• TREX1-related Aicardi-Goutieres syndrome
• Triangular tibia and fibular aplasia
• Triatrial heart
• Trichinellosis
• Trichiniasis
• Trichinosis
• Trichocephaliasis
• Trichodental dysplasia
• Tricho-dental dysplasia
• Trichodental dysplasia with hyperopia
• Trichodental syndrome
• Tricho-dental syndrome
• Tricho-dento-osseous syndrome
• Tricho-dento-osseous syndrome 1
• Trichodermal syndrome and mental retardation
• Trichodermodysplasia with dental alterations
• Trichodysplasia xeroderma
• Trichoepithelioma multiple familial
• Trichoepithelioma multiple familial 1
• Trichoepithelioma multiple familial 2
• Trichofolliculoma
• Trichohepatoenteric syndrome
• Tricho-hepato-enteric syndrome
• Trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina
• Trichooculodermovertebral syndrome
• Tricho-oculo-dermo-vertebral syndrome
• Trichoodontoonychial dysplasia
• Tricho-odonto-onychodysplasia with syndactyly
• Trichophytia profunda barbae
• Trichophytia profunda capitis
• Trichophyton infection
• Trichorhinophalangeal syndrome type 1
• Trichorhinophalangeal syndrome type 2
• Trichorhinophalangeal syndrome type 3
• Trichorhinophalangeal syndrome type II
• Trichoscyphodysplasia
• Trichostasis spinulosa
• Trichothiodystrophy
• Trichotillomania- not a rare disease.
• Trichuriasis
• Tricuspid atresia
• Trigeminal anesthesia, familial
• Trigeminal neuralgia
• Trigeminal trophic syndrome
• Trigger thumb
• Triglyceride storage disease with impaired long-chain fatty acid oxidation
• Trigonitis- not a rare disease.
• Trigonobrachycephaly, bulbous bifid nose, macrostomia, micrognathia, acral anomalies, and hypotonia
• Trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet
• Trigonocephaly - bifid nose - acral anomalies
• Trigonocephaly bifid nose acral anomalies
• Trigonocephaly C syndrome
• Trigonocephaly ptosis coloboma
• Trigonocephaly ptosis mental retardation
• Trigonocephaly syndrome
• Trigonocephaly, short stature and developmental delay
• Trigonocephaly, short stature, and retarded psychomotor development
• Trigonocephaly-short stature-developmental delay syndrome
• Trihydroxycoprostanic acid in bile
• Trihydroxycoprostanic acid to cholic acid
• Triiodothyronine resistence
• Trimethylaminuria
• Triopia
• Triose phosphate-isomerase deficiency
• Triosephosphate isomerase deficiency
• TRIP12 mutation
• TRIP12 mutations
• Triphalangeal thumb and brachyectrodactyly syndrome
• Triphalangeal thumb and brachy-ectrodactyly syndrome
• Triphalangeal thumb non opposable
• Triphalangeal thumb-polysyndactyly syndrome
• Triphalangeal thumbs and dislocation of patella
• Triphalangeal thumbs brachyectrodactyly
• Triphalangeal thumbs thrombocytopathy deafness
• Triphalyngeal thumbs and brachyectrodactyly
• Triple A syndrome
• Triple X syndrome
• Triple-X chromosome syndrome
• Triple-X female
• Triplo X syndrome
• Triploid syndrome
• Triploidy
• Triploidy syndrome
• Trismus-pseudocamptodactyly syndrome
• Trisomy 10p
• Trisomy 10q
• Trisomy 11 mosaicism
• Trisomy 11p
• Trisomy 11q
• Trisomy 12 mosaicism
• Trisomy 12p
• Trisomy 12q
• Trisomy 13
• Trisomy 13 mosaicism
• Trisomy 13q
• Trisomy 14 mosaicism
• Trisomy 14q
• Trisomy 15 mosaicism
• Trisomy 15q
• Trisomy 16
• Trisomy 16-18 (formerly)
• Trisomy 16p
• Trisomy 16p13.11
• Trisomy 16pter
• Trisomy 16q
• Trisomy 17
• Trisomy 17 mosaicism
• Trisomy 17p
• Trisomy 17q
• Trisomy 17q12
• Trisomy 18
• Trisomy 18p
• Trisomy 18q
• Trisomy 19p
• Trisomy 19q
• Trisomy 1p
• Trisomy 2 mosaicism
• Trisomy 20
• Trisomy 20 mosaicism
• Trisomy 20p
• Trisomy 20q
• Trisomy 21- not a rare disease.
• Trisomy 21q
• Trisomy 22
• Trisomy 22 mosaicism
• Trisomy 2p
• Trisomy 2q
• Trisomy 3 mosaicism
• Trisomy 3p
• Trisomy 3q
• Trisomy 3q29
• Trisomy 4p
• Trisomy 4q
• Trisomy 5p
• Trisomy 5q
• Trisomy 6 mosaicism
• Trisomy 6p
• Trisomy 6q
• Trisomy 7 mosaicism
• Trisomy 7p
• Trisomy 7q
• Trisomy 7q11.23
• Trisomy 8 mosaicism
• Trisomy 8p
• Trisomy 8q
• Trisomy 8q12
• Trisomy 9 mosaicism
• Trisomy 9p
• Trisomy 9q
• Trisomy chromosome 16
• Trisomy chromosome 20
• Trisomy E (formerly)
• Trisomy X
• Trisomy Xp11.22p11.23
• Trisomy Xp11.22-p11.23
• Trisomy Xq
• Trisomy Xq28
• TRMA
• Trochlea of the humerus aplasia of
• Trochlear dysplasia
• Trochlear nerve palsy, familial congenital
• Trochleitis
• Tropheryma whippelii infection
• Trophoblastic tumor placental site
• Tropical enteropathy
• Tropical spastic paraparesis (formerly)
• Tropical sprue
• Troyer syndrome
• TRPS 2
• TRPS 3
• TRPS1
• True microcephaly
• True thymic hyperplasia
• Trueb Burg Bottani syndrome
• Trypanosomiasis, Human East-African
• Trypanosomiasis, Human West-African
• Tryptophanuria with dwarfism
• Tsao Ellingson syndrome
• TSD
• TSGCT
• TSH deficiency
• Tsukahara Kajii syndrome
• Tsukahara syndrome
• Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation
• TTP
• TTP, congenital
• TTR amyloid neuropathy
• TTTS
• Tubercular meningitis
• Tuberculosis
• Tuberculous meningitis
• Tuberculous uveitis
• Tuberous sclerosis
• Tuberous sclerosis 1
• Tuberous sclerosis complex
• Tuberous sclerosis polycystic kidney disease contiguous gene syndrome
• Tuberous sclerosis, type 1
• Tuberous sclerosis, type 2
• Tubular aggregate myopathy
• Tubular solid adenoma
• Tubulointerstitial nephritis and uveitis
• Tucker syndrome
• Tufted angioma
• Tufted hair folliculitis
• Tufting enteropathy
• Tukel syndrome
• Tularemia
• Tumefactive multiple sclerosis
• Tumid lupus erythematosus
• Tumor necrosis factor receptor-associated periodic syndrome
• Tumor of cranial and spinal nerves
• Tumor of spleen
• Tumor predisposition syndrome
• Tumor susceptibility linked to germline BAP1 mutations
• Tumoral calcinosis, hyperphosphatemic, familial
• Tumor-induced osteomalacia
• Tunga penetrans
• Tungiasis
• Tunglang Savage Bellman syndrome
• Turban tumor syndrome
• Turban tumors
• Turcot syndrome
• Turner syndrome
• Turner Varny Syndrome
• Turner-Kieser syndrome
• TUSC3-CDG
• Twenty nail dystrophy
• Twenty-nail dystrophy
• Twin to twin transfusion syndrome
• Twin-to-twin transfusion syndrome
• Twisted hair
• Twisted hair with nail dysplasias
• Tylosis
• Tylosis - oesophageal carcinoma
• Tylosis with esophageal cancer
• Tylosis-oesophageal carcinoma syndrome
• Type - Epigastric - defect in the cephalic fold
• Type - Hypogastric - defect in the caudal fold
• Type 1 diabetes- not a rare disease.
• Type 1 maturity-onset diabetes of the young
• Type 1 neurofibromatosis
• Type 1 plasminogen deficiency
• Type 1 syndactyly-microcephaly-intellectual disability syndrome
• Type 1 tracheomalacia
• Type 1 Xanthinuria
• Type 14 glycogenosis
• type 2 (Andre syndrome)
• Type 2 hyperprolinemia
• Type 2 MacTel- not a rare disease.
• Type 2 maturity-onset diabetes of the young
• Type 2 punctate PPK
• Type 2 rhizomelic chondrodysplasia punctata
• Type 2 Xanthinuria
• Type 3 Berardinelli-Seip congenital lipodystrophy
• Type 3 maturity-onset diabetes of the young
• Type 4 maturity-onset diabetes of the young
• Type 6 maturity-onset diabetes of the young
• Type 7 maturity-onset diabetes of the young
• Type 8 maturity-onset diabetes of the young
• Type 9 maturity-onset diabetes of the young
• Type A insulin resistance syndrome
• Type E brachydactyly
• Type I congenital dyserythropoietic anemia
• Type I hyperlipoproteinemia
• Type I Polyglandular Autoimmune Syndrome
• Type I punctate palmoplantar keratoderma
• Type II 3-beta-hydroxysteroid dehydrogenase deficiency
• Type II Xanthinuria
• Type of genodermatosis
• Type V hyperlipoproteinemia
• Type V OI
• Typhoid
• Typhoid fever
• Typhus
• Typical congenital nemaline myopathy
• Typical nemaline myopathy
• Typus degenerativus amstelodamensis
• Tyrosinase-positive oculocutaneous albinism
• Tyrosine aminotransferase deficiency
• Tyrosine hydroxylase deficiency
• Tyrosine transaminase deficiency
• Tyrosinemia type 1
• Tyrosinemia type 2
• Tyrosinemia type 3
• Tyrosinemia type I
• Tyrosinemia type II
• Tyrosinemia type III
• Tyrosine-oxidase temporary deficiency
• Tyrosinosis oculocutaneous type

NIH genetic and rare disease info

• NIH info on List of rare diseases-T

List of rare diseases-T is a rare disease.