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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

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

Thymidine Kinase 2 Deficiency

Also known as: TK2D, mitochondrial DNA depletion syndrome 2, mitochondrial DNA depletion syndrome 2 (myopathic type), MTDPS2, mitochondrial DNA depletion myopathy - TK2-related, TK2-related mitochondrial DNA maintenance defect, myopathic form
Subdivisions: infantile-onset (early onset), childhood-onset, late-onset

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