Enchondromatosis, Multiple, Ollier Type |
|
Hemangioma, Multiple enchondromatosis, Chondrosarcoma |
OMIM:166000 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Chondrosarcoma, Extraskeletal Myxoid |
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Chondrosarcoma |
OMIM:612237 |
Chondrosarcoma |
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Chondrosarcoma |
OMIM:215300 |
Li-Fraumeni Syndrome 2 |
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Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma |
OMIM:609265 |
Ewing Sarcoma |
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Ewing sarcoma |
OMIM:612219 |
Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
Cerebral Sarcoma |
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Neoplasm, Fibrosarcoma |
OMIM:117600 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... |
OMIM:151623 |
Multiple Enchondromatosis, Maffucci Type |
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Hemangioma, Multiple enchondromatosis, Chondrosarcoma |
OMIM:614569 |
Multiple Fibroadenomas Of The Breast |
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Fibroadenoma of the breast |
OMIM:615554 |
Alveolar Soft Part Sarcoma |
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Alveolar soft part sarcoma |
OMIM:606243 |
Sarcoma, Synovial |
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Synovial sarcoma |
OMIM:300813 |
Melanoma-Pancreatic Cancer Syndrome |
|
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... |
OMIM:606719 |
Li-Fraumeni Syndrome |
|
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... |
ORPHA:524 |
Oslam Syndrome |
|
Osteosarcoma, Neoplasm |
OMIM:165660 |
Osteogenic Sarcoma |
|
Osteosarcoma, Retinoblastoma |
OMIM:259500 |
Rhabdoid Tumor Predisposition Syndrome 2 |
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Neoplasm of the central nervous system, Carcinoma |
OMIM:613325 |
Desmoid Disease, Hereditary |
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Desmoid tumors, Colon cancer, Colorectal polyposis, Breast carcinoma |
OMIM:135290 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Nut Midline Carcinoma |
|
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... |
ORPHA:443167 |
Oslam Syndrome |
|
Osteosarcoma |
ORPHA:2760 |
Paget Disease Of Bone 3 |
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Osteosarcoma |
OMIM:167250 |
Premature Aging Syndrome, Okamoto Type |
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Osteosarcoma, Neoplasm |
OMIM:601811 |
Exostoses, Multiple, Type Ii |
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Chondrosarcoma, Scapular exostoses, Multiple exostoses, Rib exostoses, Pelvic bone exostoses |
OMIM:133701 |
Exostoses, Multiple, Type I |
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Chondrosarcoma, Scapular exostoses, Multiple exostoses, Rib exostoses, Pelvic bone exostoses |
OMIM:133700 |
Undifferentiated Pleomorphic Sarcoma |
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Soft tissue sarcoma |
ORPHA:2023 |
Lichen Sclerosus Et Atrophicus |
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Squamous cell carcinoma, Carcinoma |
OMIM:151590 |
Maffucci Syndrome |
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Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost... |
ORPHA:163634 |
Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Ollier Disease |
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Chondrosarcoma, Neoplasm, Lymphangioma, Hemangioma, Multiple enchondromatosis, Sarcoma, Visceral ... |
ORPHA:296 |
Acquired Ichthyosis |
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Neoplasm, Multiple myeloma, Sarcoma, Lymphoma |
ORPHA:454 |
Retinoblastoma |
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Ewing sarcoma, Retinoblastoma, Lymphoma, Osteosarcoma, Leukemia, Pinealoma |
OMIM:180200 |
Paraneoplastic Pemphigus |
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Thymoma, B-cell lymphoma, Sarcoma |
ORPHA:63455 |
Oncogenic Osteomalacia |
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Giant cell tumor of bone, Neurofibromas, Osteosarcoma, Neoplasm of head and neck, Neoplasm of the... |
ORPHA:352540 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
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Histiocytoma, Osteosarcoma, Fibrosarcoma |
OMIM:112250 |
Retinoblastoma |
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Ewing sarcoma, Retinoblastoma, Glioma, Melanoma, Rhabdomyosarcoma, Lymphoma, Osteosarcoma, Leiomy... |
ORPHA:790 |
Progressive Osseous Heteroplasia |
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Sarcoma |
ORPHA:2762 |
Large Congenital Melanocytic Nevus |
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Neoplasm, Cutaneous melanoma, Rhabdomyosarcoma, Sarcoma, Neoplasm of the skin |
ORPHA:626 |
Mast Cell Sarcoma |
|
Sarcoma |
ORPHA:66661 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
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Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... |
ORPHA:247806 |
Liposarcoma |
|
Sarcoma |
ORPHA:69078 |
Dysplasia Epiphysealis Hemimelica With Chondromas And Osteochondromas |
|
Osteochondroma |
OMIM:127820 |
Infantile Myofibromatosis |
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Neoplasm of the pancreas, Neoplasm of the lung, Gingival fibromatosis, Fibroma, Benign neoplasm o... |
ORPHA:2591 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Unilateral vestibular schwannoma, Carcinoma |
OMIM:603641 |
Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma, Colorectal polyposis, Carcinoma |
OMIM:612591 |
Werner Syndrome |
|
Osteosarcoma, Meningioma |
OMIM:277700 |
Rhabdoid Tumor |
|
Neoplasm of the central nervous system, Neoplasm of the liver, Sarcoma, Renal neoplasm |
ORPHA:69077 |
Gardner Syndrome |
|
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... |
ORPHA:79665 |
Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Adenoca... |
ORPHA:220460 |
Familial Adenomatous Polyposis 1 |
|
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... |
OMIM:175100 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Ovarian neoplasm, Neoplasm of the central nervous system, Neoplasm of t... |
ORPHA:83469 |
Rothmund-Thomson Syndrome Type 1 |
|
Melanoma, Squamous cell carcinoma, Myelodysplasia, Basal cell carcinoma, Osteosarcoma, Leukemia, ... |
ORPHA:221008 |
Rothmund-Thomson Syndrome Type 2 |
|
Melanoma, Lymphoma, Squamous cell carcinoma, Myelodysplasia, Basal cell carcinoma, Osteosarcoma, ... |
ORPHA:221016 |
Baller-Gerold Syndrome |
|
Osteosarcoma, Lymphoma |
ORPHA:1225 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Fibrous Dysplasia Of Bone |
|
Thyroid carcinoma, Testicular neoplasm, Neoplasm of the breast, Osteosarcoma, Cutaneous myxoma |
ORPHA:249 |
Pleuropulmonary Blastoma |
|
Pleuropulmonary blastoma, Rhabdomyosarcoma, Medulloblastoma |
OMIM:601200 |
Rothmund-Thomson Syndrome, Type 2 |
|
Squamous cell carcinoma, Osteosarcoma, Basal cell carcinoma |
OMIM:268400 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor... |
ORPHA:44890 |
Yellow Nail Syndrome |
|
Neoplasm, Renal neoplasm, Neoplasm of the lung, Biliary tract neoplasm, Sarcoma |
ORPHA:662 |
Werner Syndrome |
|
Neoplasm, Acral lentiginous melanoma, Ovarian neoplasm, Thyroid carcinoma, Renal neoplasm, Cutane... |
ORPHA:902 |
Acromesomelic Dysplasia, Grebe Type |
|
Sarcoma |
ORPHA:2098 |
Desmoid Tumor |
|
Desmoid tumors, Intestinal polyposis, Neoplasm of the skin, Fibroma |
ORPHA:873 |
Blackfan-Diamond Anemia |
|
Malignant genitourinary tract tumor, Adenocarcinoma of the colon, Myelodysplasia, Osteosarcoma, A... |
ORPHA:124 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma, Lipoma, Multi... |
ORPHA:733 |
Diamond-Blackfan Anemia 1 |
|
Myelodysplasia, Osteosarcoma, Colon cancer |
OMIM:105650 |
Atypical Werner Syndrome |
|
Ovarian neoplasm, Renal neoplasm, Neoplasm of the small intestine, Neoplasm of the lung, Neoplasm... |
ORPHA:79474 |
Rhabdomyosarcoma, Embryonal, 1 |
|
Embryonal rhabdomyosarcoma |
OMIM:268210 |
Rhabdomyosarcoma 2 |
|
Alveolar rhabdomyosarcoma |
OMIM:268220 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Diffuse leiomyomatosis, Fibrosarcoma |
ORPHA:314478 |
Tuberous Sclerosis 2 |
|
Optic nerve glioma, Subependymal nodules, Subungual fibromas, Cortical tubers, Renal angiomyolipo... |
OMIM:613254 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Testicular neoplasm, Sarcoma, Neoplasm of the breast, Neoplasm of the thyroid gland |
ORPHA:457059 |
Terminal Osseous Dysplasia |
|
Fibroma |
OMIM:300244 |
Mastocytosis |
|
Acute leukemia, Sarcoma, Chronic leukemia |
ORPHA:98292 |
Milroy Disease |
|
Angiosarcoma, Neoplasm of the skin |
ORPHA:79452 |
Camptodactyly, Tall Stature, And Hearing Loss Syndrome |
|
Osteochondroma |
OMIM:610474 |
Multiple Endocrine Neoplasia, Type Iv |
|
Pituitary adenoma, Parathyroid adenoma, Carcinoid tumor, Renal angiomyolipoma, Pancreatic endocri... |
OMIM:610755 |
Neurofibromatosis Type 1 |
|
Neoplasm, Chronic myelogenous leukemia, Plexiform neurofibroma, Pheochromocytoma, Multiple lipoma... |
ORPHA:636 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Fibroma |
OMIM:619750 |
Monosomy 22 |
|
Schwannoma, Sarcoma, Meningioma, Gonadal neoplasm |
ORPHA:96123 |
Cowden Syndrome |
|
Papilloma, Neoplasm, Lipoma, Breast carcinoma, Neoplasm of the central nervous system, Melanoma, ... |
ORPHA:201 |
Czech Dysplasia |
|
Osteochondroma |
OMIM:609162 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Thymoma, Pituitary null cell adenoma, Pituitary adenoma, P... |
ORPHA:276152 |
Meige Disease |
|
Angiosarcoma |
ORPHA:90186 |
Lymphedema-Distichiasis Syndrome |
|
Fibrosarcoma |
ORPHA:33001 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Diffuse leiomyomatosis, Esophageal neoplasm, Uterine neoplasm, Fibroma, Tracheobronchial leiomyom... |
ORPHA:1018 |
Multiple Osteochondromas |
|
Osteochondroma, Scapular exostoses, Rib exostoses, Chondrosarcoma |
ORPHA:321 |
Tolchin-Le Caignec Syndrome |
|
Osteochondroma, Cardiac rhabdomyoma |
OMIM:618971 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Lipoma, Thyroid carcinoma, Parathyroid adenoma, Nephroblastoma, Testicular neoplasm, Fibroma, Ren... |
ORPHA:99880 |
Parathyroid Carcinoma |
|
Lipoma, Thyroid carcinoma, Parathyroid carcinoma, Nephroblastoma, Testicular neoplasm, Fibroma, R... |
ORPHA:143 |
Tuberous Sclerosis Complex |
|
Subependymal nodules, Pituitary adenoma, Cortical tubers, Parathyroid adenoma, Carcinoid tumor, P... |
ORPHA:805 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary growth hormone cell adenoma, Thymoma, Intestinal carcinoid, Pituitary prolactin cell ad... |
ORPHA:652 |
Aicardi Syndrome |
|
Lipoma, Hepatoblastoma, Teratoma, Hemangioma, Metastatic angiosarcoma, Carcinoma |
OMIM:304050 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Osteochondroma, Scapular exostoses, Multiple long-bone exostoses, Osteoma, Rib exostoses |
OMIM:150230 |
Pallister-Hall Syndrome |
|
Osteochondroma, Midline facial capillary hemangioma, Hypothalamic hamartoma |
ORPHA:672 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Optic nerve glioma, Hemangioma, Subcutaneous neurofibromas, Ossifying fibroma, Lisch nodules, Neu... |
ORPHA:363700 |