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Rare Disease Database

Search Results for: T

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Takotsubo Cardiomyopathy

Also known as: takotsubo syndrome, broken heart syndrome, stress cardiomyopathy, ampulla cardiomyopathy, apical ballooning syndrome

Tangier Disease

Also known as: Familial alpha-lipoprotein deficiency, high density lipoproteindeficiency, type 1 (HDLDT1), high density lipoproteindeficiency, Tangier type, analphalipoproteinemia

Tardive Dyskinesia

Also known as: linguofacial dyskinesia, oral-facial dyskinesia, tardive dystonia, tardive oral dyskinesia, TD, tardive stereotypy

Tarlov Cysts

Also known as: perineural cysts, sacral, lumbar, thoracic or cervical nerve root cysts
Subdivisions: No subdivisions found

Tay Sachs Disease

Also known as: HEXA deficiency, hexosaminidase A deficiency, TSD, GM2 gangliosidosis, type 1, hexoaminidase alpha-subunit deficiency (variant B), B variant GM2 gangliosidosis, sphingolipidosis, Tay-Sachs
Subdivisions: infantile Tay-Sachs disease , juvenile (subacute) Tay-Sachs disease, late-onset Tay-Sachs disease

Tenosynovial Giant Cell Tumor

Also known as: giant cell tumor of the tendon sheath (GCTTS), nodular tenosynovitis, diffuse-type giant cell , pigmented vilonodular synovitis (PVNS)
Subdivisions: diffuse TGCT, localized TGCT

Tetrahydrobiopterin Deficiency

Also known as: BH4-deficient hyperphenylalaninemia
Subdivisions: 6-pyruvoyl tetrahydropterin synthase (PTPS) deficiency, dihydropteridine reductase (DHPR) deficiency, autosomal recessive guanosine triphosphate cyclohydrolase I (GTPCH) deficiency, pterin-4alpha-carbinolamine dehydratase (PCD) deficiency

Tetralogy of Fallot

Also known as: Fallot's Tetralogy, pulmonic stenosis-ventricular septal defect

Thoracic Outlet Syndrome

Also known as: TOS
Subdivisions: arterial thoracic outlet syndrome (ATOS), neurogenic thoracic outlet syndrome (NTOS), neurogenic pectoralis minor Syndrome (NPMS), venous pectoralis minor syndrome (VPMS), arterial pectoralis minor syndrome (APMS), venous thoracic outlet syndrome (VTOS)

Thrombocytopenia Absent Radius Syndrome

Also known as: radial aplasia-amegakaryocytic thrombocytopenia, radial aplasia-thrombocytopenia syndrome, TAR syndrome, thrombocytopenia-absent radii syndrome
Subdivisions: tetraphocomelia-thrombocytopenia syndrome

Thyroid Cancer

Subdivisions: differentiated thyroid carcinoma , medullary thyroid carcinoma , thyroid lymphoma, anaplastic thyroid carcinoma

Thyroid Eye Disease

Also known as: Graves’ eye disease, Graves’ ophthalmopathy, Graves’ orbitopathy, TED

Tietze Syndrome

Also known as: Chondropathia Tuberosa, Costochondral Junction Syndrome


Subdivisions: muscular tinnitus, pulsatile tinnitus

Tolosa Hunt Syndrome

Also known as: ophthalmoplegia, painful, ophthalmoplegia, recurrent, ophthalmoplegia syndrome

Tongue Cancer

Also known as: Cancer of the Tongue, Carcinoma of the Tongue, Tongue, Carcinoma

Tongue, Hairy

Also known as: Black Hairy Tongue, Black Tongue, Lingua Nigra, Lingua Villosa Nigra

Tooth and Nail Syndrome

Also known as: Witkop syndrome, ectodermal dysplasia 3, Wiktop type, ectodermal dysplasia 3, tooth/nail type, dysplasia of nails With hypodontia, nail dysgenesis and hypodontia

TORCH Syndrome

Also known as: Cytomegalovirus, Herpes Simplex, Rubella, Torch Infection, Torch Infection, Toxoplasmosis, Toxoplasmosis, Other Agents, Rubella, Cytomegalovirus, Herpes Simplex

Townes-Brocks Syndrome

Also known as: deafness, sensorineural, with imperforate anus and hypoplastic thumbs, imperforate anus with hand, foot and ear anomalies, Townes syndrome, TBS

Treacher Collins Syndrome

Also known as: Franceschetti-Zwalen-Klein syndrome, mandibulofacial dysostosis, TCS, Treacher Collins-Franceschetti syndrome

Trigeminal Neuralgia

Also known as: Fothergill Disease, Tic Douloureux, TN, Trifacial Neuralgia
Subdivisions: Trigeminal neuralgia type 1 (TN1), Trigeminal neuralgia type 2 (TN2)


Also known as: chromosome triploidy syndrome, Triploid syndrome, triploidy syndrome

Trisomy 13 Syndrome

Also known as: Chromosome 13, Trisomy 13 Complete, Complete Trisomy 13 Syndrome, D Trisomy Syndrome, Patau Syndrome

Trisomy 18

Also known as: Edwards syndrome, trisomy E (formerly)

Trisomy 9p (Multiple Variants)

Also known as: complete trisomy 9P, partial trisomy 9P, included, trisomy 9pter-q11-13, included, trisomy 9pter-q22-32, included, Dup(9p) syndrome, Duplication 9p syndrome, Rethore syndrome (obsolete), trisomy 9P syndrome (partial), included

Trisomy X

Also known as: 47, XXX, 47, XXX karyotype, 47, XXX syndrome, triple X syndrome, triplo X, XXX syndrome

Tuberous Sclerosis

Also known as: Bourneville Pringle Syndrome, phakomatosis TS, tuberose sclerosis, tuberous sclerosis complex


Also known as: deerfly fever, rabbit fever

Turcot Syndrome

Also known as: Brain tumor-polyposis syndrome, Glioma-polyposis syndrome

Turner Syndrome

Also known as: 45,X syndrome, Bonnevie-Ullrich syndrome, monosomy X, Ullrich-Turner syndrome


Also known as: Enteric Fever, Salmonella Typhi Infection, Typhoid Fever

Tyrosine Hydroxylase Deficiency

Also known as: autosomal recessive dopa-responsive dystonia, autosomal recessive infantile Parkinsonism, autosomal recessive Segawa syndrome, TH deficiency, tyrosine hydroxylase-deficient dopa-responsive dystonia (TH-DRD)

Tyrosinemia Type 1

Also known as: FAH deficiency, fumarylacetoacetase deficiency, fumarylacetoacetate hydrolase deficiency, hepatorenal tyrosinemia, hereditary tyrosinemia type 1