| D007223 |
Infant |
A child between 1 and 23 months of age. |
Infants |
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| D008297 |
Male |
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Males |
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| D006338 |
Heart Neoplasms |
Tumors in any part of the heart. They include primary cardiac tumors and metastatic tumors to the heart. Their interference with normal cardiac functions can cause a wide variety of symptoms including HEART FAILURE; CARDIAC ARRHYTHMIAS; or EMBOLISM. |
Cardiac Cancer,Cardiac Carcinoma,Cardiac Neoplasms,Cardiac Tumor,Cardiac Tumors,Heart Cancer,Heart Tumor,Intracavitary Tumors of the Heart,Myocardial Tumors (Rhabdomyomas and Fibromas),Neoplasms, Cardiac,Neoplasms, Heart,Primary Cardiac Tumors, Childhood,Cancer, Cardiac,Cancer, Heart,Cancers, Cardiac,Cancers, Heart,Carcinoma, Cardiac,Carcinomas, Cardiac,Cardiac Cancers,Cardiac Carcinomas,Cardiac Neoplasm,Heart Cancers,Heart Neoplasm,Heart Tumors,Myocardial Tumor (Rhabdomyomas and Fibromas),Neoplasm, Cardiac,Neoplasm, Heart,Tumor, Cardiac,Tumor, Heart,Tumor, Myocardial (Rhabdomyomas and Fibromas),Tumors, Cardiac,Tumors, Heart,Tumors, Myocardial (Rhabdomyomas and Fibromas) |
|
| D006352 |
Heart Ventricles |
The lower right and left chambers of the heart. The right ventricle pumps venous BLOOD into the LUNGS and the left ventricle pumps oxygenated blood into the systemic arterial circulation. |
Cardiac Ventricle,Cardiac Ventricles,Heart Ventricle,Left Ventricle,Right Ventricle,Left Ventricles,Right Ventricles,Ventricle, Cardiac,Ventricle, Heart,Ventricle, Left,Ventricle, Right,Ventricles, Cardiac,Ventricles, Heart,Ventricles, Left,Ventricles, Right |
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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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| D000077004 |
Tuberous Sclerosis Complex 1 Protein |
An intracellular signaling and tumor suppressor protein that forms a complex with TUBEROUS SCLEROSIS COMPLEX 2 PROTEIN (TSC2) and other signaling factors to negatively regulate MTORC1 signaling and affect cell growth and proliferation. Structurally, it interacts with TSC2 through its N-terminal, which also contains GSK-3BETA phosphorylation sites and a RHO-KINASE activation domain. It also contains a C-terminal coiled-coil domain and ezrin-radixin-moesin (ERM) domain. Mutations in the TSC1 gene are associated with TUBEROUS SCLEROSIS. |
Hamartin |
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| D000077005 |
Tuberous Sclerosis Complex 2 Protein |
An intracellular signaling and tumor suppressor protein that forms a complex with TUBEROUS SCLEROSIS COMPLEX 1 PROTEIN (TSC1) and other signaling factors to negatively regulate MTORC1 and affect cell growth and proliferation. It can also function as GTPASE-ACTIVATING PROTEIN (GAP) for RHEB GTPASE to activate mTORC1 independent of its role in the complex. Structurally, it interacts with TSC1 through its N-terminus, which also contains a leucine zipper and coiled-coil region. It also has multiple phosphorylation sites for different cell signaling kinases, a central coiled-coil region, a C-terminal GAP domain and CALMODULIN binding domain. Mutations in the TSC2 gene are associated with TUBEROUS SCLEROSIS. |
Tuberin,Tuberous Sclerosis 2 Protein |
|
| D001344 |
Autopsy |
Postmortem examination of the body. |
Autopsies,Post-Mortem Examination,Postmortem Examination,Examination, Post-Mortem,Examination, Postmortem,Examinations, Post-Mortem,Examinations, Postmortem,Post Mortem Examination,Post-Mortem Examinations,Postmortem Examinations |
|
| D012207 |
Rhabdomyoma |
A benign tumor derived from striated muscle. It is extremely rare, generally occurring in the tongue, neck muscles, larynx, uvula, nasal cavity, axilla, vulva, and heart. These tumors are treated by simple excision. (Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1354) |
Rhabdomyomas |
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| D014402 |
Tuberous Sclerosis |
Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease. |
Bourneville Disease,Epiloia,Phakomatosis, Bourneville,Adenoma Sebaceum,Bourneville Phakomatosis,Bourneville Syndrome,Bourneville's Disease,Bourneville's Syndrome,Bourneville-Pringle Disease,Bourneville-Pringle's Disease,Cerebral Sclerosis,Phacomatosis, Bourneville,Sclerosis Tuberosa,Tuberose Sclerosis,Tuberous Sclerosis Complex,Bourneville Phacomatosis,Bourneville Pringle Disease,Bourneville Pringle's Disease,Bourneville-Pringles Disease,Cerebral Scleroses,Disease, Bourneville-Pringle,Disease, Bourneville-Pringle's,Sclerosis, Cerebral,Sclerosis, Tuberose,Sclerosis, Tuberous,Syndrome, Bourneville,Syndrome, Bourneville's |
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