Tumor Predisposition Syndrome 1 |
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Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... |
OMIM:614327 |
Lung Cancer |
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Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
Li-Fraumeni Syndrome |
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Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Myofibromatosis, Infantile, 1 |
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Fibroma, Myofibromatosis |
OMIM:228550 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
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Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom... |
OMIM:150800 |
Birt-Hogg-Dube Syndrome 1 |
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Renal neoplasm, Multiple pulmonary cysts, Cutaneous leiomyosarcoma, Spontaneous pneumothorax, Tri... |
OMIM:135150 |
Pleuropulmonary Blastoma |
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Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma |
OMIM:601200 |
Reticulum Cell Sarcoma |
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Neoplasm, Sarcoma |
OMIM:267730 |
Multiple Fibroadenomas Of The Breast |
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Fibroadenoma of the breast |
OMIM:615554 |
Li-Fraumeni Syndrome |
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Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Colorectal Cancer |
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Renal cell carcinoma, Uterine leiomyosarcoma, Transitional cell carcinoma of the bladder |
OMIM:114500 |
Alveolar Soft Part Sarcoma |
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Alveolar soft part sarcoma |
OMIM:606243 |
Sarcoma, Synovial |
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Synovial sarcoma |
OMIM:300813 |
Tumor Predisposition Syndrome 4 |
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Glioma, Meningioma, Breast carcinoma, Sarcoma |
OMIM:609265 |
Rhabdomyosarcoma, Embryonal, 1 |
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Embryonal rhabdomyosarcoma |
OMIM:268210 |
Enchondromatosis, Multiple, Ollier Type |
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Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:166000 |
Rhabdomyosarcoma 2 |
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Alveolar rhabdomyosarcoma |
OMIM:268220 |
Rhabdomyosarcoma, Embryonal, 2 |
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Ovarian thecoma, Nephroblastoma, Embryonal rhabdomyosarcoma, Pleuropulmonary blastoma |
OMIM:180295 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
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Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar... |
ORPHA:523 |
Ewing Sarcoma |
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Ewing sarcoma |
OMIM:612219 |
Large Congenital Melanocytic Nevus |
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Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma |
ORPHA:626 |
Bazex Syndrome |
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Neoplasm, Lung adenocarcinoma, Liposarcoma |
ORPHA:166113 |
Chondrosarcoma, Extraskeletal Myxoid |
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Chondrosarcoma |
OMIM:612237 |
Chondrosarcoma |
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Chondrosarcoma |
OMIM:215300 |
Mismatch Repair Cancer Syndrome 1 |
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Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
Multiple Enchondromatosis, Maffucci Type |
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Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:614569 |
Melanoma-Pancreatic Cancer Syndrome |
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Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Familial Multinodular Goiter |
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Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Ovarian neoplasm, Basal cell ... |
ORPHA:276399 |
Retinoblastoma |
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Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... |
ORPHA:790 |
Carney Triad |
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Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenoma, Pheochromocytoma, Paragang... |
ORPHA:139411 |
Fanconi Renotubular Syndrome 5 |
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Emphysema, Lung adenocarcinoma, Pulmonary fibrosis |
OMIM:618913 |
Glioma susceptibility 9 |
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Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia |
OMIM:616568 |
Asbestos Intoxication |
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Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ... |
ORPHA:2302 |
Dermatofibrosarcoma Protuberans |
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Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Undifferentiated Pleomorphic Sarcoma |
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Soft tissue sarcoma |
ORPHA:2023 |
Nut Midline Carcinoma |
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Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
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Pilomatrixoma, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenocarcinoma of the colon... |
OMIM:620189 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Nephroblastoma, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Diastasis recti,... |
ORPHA:116 |
Opsoclonus-Myoclonus Syndrome |
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Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... |
ORPHA:1183 |
Phakomatosis Pigmentokeratotica |
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Rhabdomyosarcoma, Renal transitional cell carcinoma, Basal cell carcinoma, Pheochromocytoma, Hema... |
ORPHA:2874 |
Epidermal Nevus Syndrome |
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Lipoma, Weakness of long finger extensor muscles, Spinal cord tumor, Rhabdomyosarcoma |
ORPHA:35125 |
Adrenocortical Carcinoma |
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Adrenocortical carcinoma, Lung adenocarcinoma |
ORPHA:1501 |
Neurofibromatosis, Type I |
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Astrocytoma, Rhabdomyosarcoma, Neurofibroma, Optic nerve glioma, Pheochromocytoma, Meningioma, Pl... |
OMIM:162200 |
Legius Syndrome |
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Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... |
ORPHA:137605 |
Paraneoplastic Pemphigus |
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B-cell lymphoma, Thymoma, Sarcoma |
ORPHA:63455 |
Dermatomyositis |
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Recurrent respiratory infections, Gastrointestinal stroma tumor, Lymphoma, Abnormal pulmonary int... |
ORPHA:221 |
Monosomy 9Q22.3 |
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Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Medulloblastoma, Cardiac f... |
ORPHA:77301 |
Nijmegen Breakage Syndrome |
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Recurrent sinopulmonary infections, Recurrent respiratory infections, Skeletal muscle atrophy, Gl... |
ORPHA:647 |
Cancer-Associated Retinopathy |
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Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... |
ORPHA:71505 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
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Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... |
ORPHA:247806 |
Mosaic Variegated Aneuploidy Syndrome |
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Vaginal neoplasm, Rhabdomyosarcoma, Myelodysplasia, Abnormal lung lobation, Acute lymphoblastic l... |
ORPHA:1052 |
Nijmegen Breakage Syndrome |
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Glioma, Rhabdomyosarcoma, Lymphoma, Medulloblastoma, Bronchiectasis, Recurrent pneumonia, Recurre... |
OMIM:251260 |
Lambert-Eaton Myasthenic Syndrome |
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Small cell lung carcinoma |
ORPHA:43393 |
Familial Adenomatous Polyposis 1 |
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Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... |
OMIM:175100 |
17Q11 Microdeletion Syndrome |
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Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp... |
ORPHA:97685 |
Gardner Syndrome |
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Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... |
ORPHA:79665 |
Ovarian Fibrothecoma |
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Fibrosarcoma, Diffuse leiomyomatosis, Ovarian fibroma, Pleural effusion |
ORPHA:314478 |
Mosaic Variegated Aneuploidy Syndrome 1 |
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Nephroblastoma, Embryonal rhabdomyosarcoma, Leukemia |
OMIM:257300 |
Attenuated Familial Adenomatous Polyposis |
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Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma |
ORPHA:220460 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
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Skeletal muscle atrophy, Limb-girdle muscle weakness, Histiocytoma, Limb muscle weakness, Myopath... |
OMIM:112250 |
Costello Syndrome |
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Rhabdomyosarcoma, Achilles tendon contracture, Pneumothorax, Bladder carcinoma, Macroglossia, Ves... |
OMIM:218040 |
Familial Adenomatous Polyposis |
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Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... |
ORPHA:733 |
Milroy Disease |
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Angiosarcoma, Neoplasm of the skin |
ORPHA:79452 |
Osteogenic Sarcoma |
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Retinoblastoma, Osteosarcoma |
OMIM:259500 |
Retinoblastoma |
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Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Pancreatic adenocarcinoma, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of t... |
ORPHA:99889 |
Sotos Syndrome |
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Sacrococcygeal teratoma, Hip contracture, Astrocytoma, Ankle flexion contracture, Small cell lung... |
ORPHA:821 |
Fanconi Anemia, Complementation Group E |
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Cryptorchidism, Prolonged G2 phase of cell cycle |
OMIM:600901 |
Fanconi Anemia, Complementation Group A |
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Cryptorchidism, Prolonged G2 phase of cell cycle |
OMIM:227650 |
Fanconi Anemia, Complementation Group C |
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Cryptorchidism, Prolonged G2 phase of cell cycle |
OMIM:227645 |
Fanconi Anemia, Complementation Group D2 |
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Cryptorchidism, Prolonged G2 phase of cell cycle |
OMIM:227646 |