Rare Disease Database

Rare Disease Database

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Rare Disease Database GARD Rare Diseases Database
NORD Rare Disease Report
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

* También disponible en español

NORD Rare Disease Report
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)

* También disponible en español

NORD Rare Disease Report
Tetralogy of Fallot

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

NORD Rare Disease Report
Thrombocytopenia Absent Radius Syndrome

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

NORD Rare Disease Report
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

NORD Rare Disease Report
Thyroid Eye Disease

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

* También disponible en español

NORD Rare Disease Report
Tietze Syndrome

Also known as: Chondropathia Tuberosa Costochondral Junction Syndrome

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