Hereditary Leiomyomatosis And Renal Cell Cancer |
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Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar... |
ORPHA:523 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
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Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom... |
OMIM:150800 |
Reticulum Cell Sarcoma |
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Neoplasm, Sarcoma |
OMIM:267730 |
Cowden-Like syndrome |
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Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma |
OMIM:612359 |
Tumor Predisposition Syndrome 4 |
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Glioma, Meningioma, Breast carcinoma, Sarcoma |
OMIM:609265 |
Myofibromatosis, Infantile, 1 |
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Fibroma, Myofibromatosis |
OMIM:228550 |
Ewing Sarcoma |
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Ewing sarcoma |
OMIM:612219 |
Full Schwannomatosis |
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Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Peripheral schwa... |
ORPHA:93921 |
Leiomyoma, Uterine |
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Uterine leiomyoma |
OMIM:150699 |
Melanoma-Pancreatic Cancer Syndrome |
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Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Colorectal Cancer |
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Renal cell carcinoma, Uterine leiomyosarcoma, Transitional cell carcinoma of the bladder |
OMIM:114500 |
Enchondromatosis, Multiple, Ollier Type |
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Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:166000 |
Li-Fraumeni Syndrome |
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Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Solitary Fibrous Tumor |
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Soft tissue neoplasm, Vaginal neoplasm, Genital neoplasm, Neoplasm of the lung, Neoplasm of the l... |
ORPHA:2126 |
Alveolar Soft Part Sarcoma |
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Alveolar soft part sarcoma |
OMIM:606243 |
Sarcoma, Synovial |
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Synovial sarcoma |
OMIM:300813 |
Muir-Torre Syndrome |
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Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Salivary gland neoplasm, Hematologica... |
ORPHA:587 |
Familial Adenomatous Polyposis 3 |
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Endometrial carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Bladder neoplasm, Basal cell ... |
OMIM:616415 |
Peripheral Primitive Neuroectodermal Tumor |
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Neoplasm of the pancreas, Brain neoplasm, Precocious puberty, Jaundice, Spinal cord tumor, Ovaria... |
ORPHA:370348 |
Chondrosarcoma, Extraskeletal Myxoid |
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Chondrosarcoma |
OMIM:612237 |
Chondrosarcoma |
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Chondrosarcoma |
OMIM:215300 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
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Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... |
ORPHA:454840 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
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Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal... |
ORPHA:145 |
Attenuated Familial Adenomatous Polyposis |
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Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma |
ORPHA:220460 |
Colorectal Cancer, Susceptibility To, 12 |
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Carcinoma |
OMIM:615083 |
Familial Colorectal Cancer Type X |
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Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla... |
ORPHA:440437 |
Nut Midline Carcinoma |
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Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Multiple Enchondromatosis, Maffucci Type |
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Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:614569 |
Lynch Syndrome 5 |
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Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm |
OMIM:614350 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
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Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Uterine leiomyoma, Papill... |
ORPHA:480536 |
Undifferentiated Pleomorphic Sarcoma |
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Soft tissue sarcoma |
ORPHA:2023 |
Peutz-Jeghers Syndrome |
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Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Breast carcinoma, Hamartoma... |
OMIM:175200 |
Serrated Polyposis Syndrome |
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Pancreatic adenocarcinoma, Biliary tract neoplasm, Schwannoma, Bladder carcinoma, Hodgkin lymphom... |
ORPHA:157798 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Familial Adenomatous Polyposis 4 |
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Ovarian cyst, Uterine leiomyoma, Astrocytoma, Thyroid adenoma |
OMIM:617100 |
Lynch Syndrome 4 |
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Endometrial carcinoma, Ovarian neoplasm |
OMIM:614337 |
Ollier Disease |
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Chondrosarcoma, Precocious puberty, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, H... |
ORPHA:296 |
Li-Fraumeni Syndrome |
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Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Ovarian Cancer |
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Dysgerminoma, Ovarian papillary adenocarcinoma, Breast carcinoma |
OMIM:167000 |
Maffucci Syndrome |
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Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
Primary Myelofibrosis |
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Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Hematological neop... |
ORPHA:824 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 3 |
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Ovarian carcinoma, Breast carcinoma |
OMIM:613399 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 2 |
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Breast carcinoma, Ovarian neoplasm |
OMIM:612555 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 1 |
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Breast carcinoma, Ovarian neoplasm |
OMIM:604370 |
Acquired Ichthyosis |
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Neoplasm, Lymphoma, Multiple myeloma, Sarcoma |
ORPHA:454 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
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Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiomyomatosis, Vaginal neoplasm, Esoph... |
ORPHA:1018 |
Mast Cell Sarcoma |
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Mastocytosis, Splenomegaly, Hepatomegaly, Sarcoma |
ORPHA:66661 |
Thyroid Cancer, Nonmedullary, 4 |
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Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter |
OMIM:616534 |
Dermatofibrosarcoma Protuberans |
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Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Tumor Predisposition Syndrome 2 |
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Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... |
OMIM:619975 |
Colorectal Cancer, Susceptibility To, 10 |
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Endometrial carcinoma |
OMIM:612591 |
Polymerase Proofreading-Related Adenomatous Polyposis |
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Endometrial carcinoma, Brain neoplasm, Breast carcinoma, Adenocarcinoma of the colon |
ORPHA:447877 |
Schöpf-Schulz-Passarge Syndrome |
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Alopecia, Ovarian neoplasm, Squamous cell carcinoma, Basal cell carcinoma, Sparse hair, Aplasia/H... |
ORPHA:50944 |
Ring Chromosome 12 Syndrome |
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Cryptorchidism, Glandular hypospadias, Uterine leiomyoma, Dystrophic toenail, Hemangioma, Breast ... |
ORPHA:1439 |
Cancer-Associated Retinopathy |
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Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... |
ORPHA:71505 |
Paraneoplastic Pemphigus |
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B-cell lymphoma, Thymoma, Sarcoma |
ORPHA:63455 |
Lynch Syndrome 8 |
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Endometrial carcinoma |
OMIM:613244 |
Desmoplastic Small Round Cell Tumor |
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Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the ce... |
ORPHA:83469 |
Progressive Osseous Heteroplasia |
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Abnormality of the parathyroid gland, Sarcoma |
ORPHA:2762 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... |
ORPHA:99880 |
Endometrial Cancer |
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Endometrial carcinoma |
OMIM:608089 |
Bannayan-Riley-Ruvalcaba Syndrome |
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Neoplasm of the adrenal cortex, Visceral angiomatosis, Lymphoma, Hamartomatous polyposis, Neoplas... |
ORPHA:109 |
Hereditary Mixed Polyposis Syndrome |
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Refractory anemia, Endometrial carcinoma, Juvenile colonic polyposis, Desmoid tumors, Thyroid car... |
ORPHA:157794 |
Parathyroid Carcinoma |
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Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... |
ORPHA:143 |
Rhabdoid Tumor |
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Renal neoplasm, Neoplasm of the central nervous system, Anemia, Neoplasm of the liver, Thrombocyt... |
ORPHA:69077 |
Rhabdomyosarcoma, Embryonal, 2 |
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Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... |
OMIM:180295 |
Oslam Syndrome |
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Neoplasm, Anemia, Osteosarcoma |
OMIM:165660 |
Subependymoma |
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Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup... |
ORPHA:251639 |
Ependymoma |
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Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the liver, Sup... |
ORPHA:251636 |
Ovarian Fibromata |
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Ovarian fibroma |
OMIM:166970 |
Large Congenital Melanocytic Nevus |
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Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Generalized hirsutism, Sarcoma |
ORPHA:626 |
Beta-Thalassemia Intermedia |
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Hypoparathyroidism, Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia... |
ORPHA:231222 |
Liposarcoma |
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Sarcoma |
ORPHA:69078 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
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Brain abscess, Uterine leiomyoma, Exostoses |
OMIM:616482 |
Muir-Torre Syndrome |
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Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, Ovarian neoplasm, Ben... |
OMIM:158320 |
Familial Multinodular Goiter |
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Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ... |
ORPHA:276399 |
Infantile Myofibromatosis |
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Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Abnormal hair morphology... |
ORPHA:2591 |
Leukocyte Adhesion Deficiency, Type Iii |
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Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia |
OMIM:612840 |
Cowden Syndrome |
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Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, Papilloma, Abnormality... |
ORPHA:201 |
Cowden Syndrome 7 |
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Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, Hemangioma, Ductal carci... |
OMIM:616858 |
Gonadoblastoma |
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Hirsutism, Gonadal calcification, Dysgerminoma, Gonadal dysgenesis with female appearance, male, ... |
ORPHA:206484 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
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Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, De... |
OMIM:617021 |
Diethylstilbestrol Syndrome |
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Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
Ovarian Fibrothecoma |
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Diffuse leiomyomatosis, Ovarian fibroma, Abnormal endometrium morphology, Gonadal calcification, ... |
ORPHA:314478 |
Immunodeficiency 21 |
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Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropen... |
OMIM:614172 |
Hereditary Spherocytosis |
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Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Acquired Hypertrichosis Lanuginosa |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Ovarian neoplasm, Fine hair, Neoplasm, Neo... |
ORPHA:2221 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
Oslam Syndrome |
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Increased mean corpuscular volume, Abnormality of neutrophils, Osteosarcoma |
ORPHA:2760 |
Dominant Beta-Thalassemia |
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Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... |
ORPHA:231226 |
Beta-Thalassemia Major |
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Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl... |
ORPHA:231214 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
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Endometrial carcinoma, Adrenal hyperplasia, Jaundice, Male pseudohermaphroditism, Breast carcinom... |
ORPHA:90790 |
Osteopetrosis, Autosomal Recessive 2 |
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Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:259710 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
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Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... |
ORPHA:247806 |
46,Xy Sex Reversal 6 |
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Hypospadias, Sparse axillary hair, Hirsutism, Sex reversal, Dysgerminoma, Gonadal dysgenesis, Cho... |
OMIM:613762 |
Pleuropulmonary Blastoma |
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Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma |
OMIM:601200 |
Yellow Nail Syndrome |
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Renal neoplasm, Yellow nails, Biliary tract neoplasm, Neoplasm of the lung, Neoplasm, Sarcoma |
ORPHA:662 |
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
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Endometrial carcinoma, Melanoma, Thick eyebrow, Breast carcinoma |
ORPHA:457212 |
Gardner Syndrome |
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Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... |
ORPHA:79665 |
Premature Ovarian Failure 8 |
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Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei... |
OMIM:615723 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
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Visceral angiomatosis, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Neoplasm of the thyro... |
ORPHA:137608 |
Mismatch Repair Cancer Syndrome 1 |
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Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
Familial Adenomatous Polyposis 1 |
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Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... |
OMIM:175100 |
Fanconi Anemia, Complementation Group S |
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Low anterior hairline, Breast carcinoma, Ovarian neoplasm, Long eyelashes, Ovarian carcinoma, Spa... |
OMIM:617883 |
Werner Syndrome |
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Abnormal hair whorl, Squamous cell carcinoma, Premature graying of hair, Neoplasm, Thyroid carcin... |
ORPHA:902 |
Gastrointestinal Stromal Tumor |
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Gastrointestinal stroma tumor, Esophageal neoplasm, Abnormality of the liver, Anemia, Sarcoma |
ORPHA:44890 |
Retinoblastoma |
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Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
Multiple Endocrine Neoplasia, Type Iv |
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Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
46,Xy Sex Reversal 10 |
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Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Osteopetrosis, Autosomal Recessive 5 |
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Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic... |
OMIM:259720 |
Acromesomelic Dysplasia, Grebe Type |
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Sarcoma |
ORPHA:2098 |
Carney Complex |
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Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast,... |
ORPHA:1359 |
Cowden Syndrome 1 |
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Goiter, Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hamartomatous polyposis, Ovarian... |
OMIM:158350 |
Lhermitte-Duclos Disease |
|
Trichilemmoma, Fibroadenoma of the breast, Neoplasm of the thyroid gland, Ovarian neoplasm |
ORPHA:65285 |
Fgfr2-Related Bent Bone Dysplasia |
|
Clitoral hypertrophy, Extramedullary hematopoiesis, Hirsutism, Hepatosplenomegaly |
ORPHA:313855 |
Frasier Syndrome |
|
Gonadal dysgenesis, Ovarian gonadoblastoma, Male pseudohermaphroditism |
OMIM:136680 |
Lynch Syndrome |
|
Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma... |
ORPHA:144 |
Milroy Disease |
|
Angiosarcoma, Hydrocele testis, Neoplasm of the skin |
ORPHA:79452 |
Rhabdomyosarcoma 2 |
|
Alveolar rhabdomyosarcoma |
OMIM:268220 |
Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Breast carcinoma, Hepatosplen... |
ORPHA:1333 |
Turcot Syndrome With Polyposis |
|
Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma... |
ORPHA:99818 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
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Laryngeal carcinoma, Hypospadias, External genital hypoplasia, Ovotestis, Carcinoma, Nail dystrop... |
OMIM:610644 |
Familial Adenomatous Polyposis |
|
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... |
ORPHA:733 |
Monosomy 22 |
|
Aplasia of the thymus, Schwannoma, Synophrys, Hypochromic microcytic anemia, Hepatosplenomegaly, ... |
ORPHA:96123 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly |
OMIM:259730 |
Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... |
ORPHA:790 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Premature graying of hair, Fibrosarcoma, Histiocytoma, Osteosarcoma |
OMIM:112250 |
Legius Syndrome |
|
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... |
ORPHA:137605 |
Ectopic Aldosterone-Producing Tumor |
|
Renal cortical adenoma, Adrenocortical adenoma, Ovarian neoplasm |
ORPHA:231632 |
Tarp Syndrome |
|
Cryptorchidism, Thick eyebrow, Extramedullary hematopoiesis, Abnormal hair pattern |
ORPHA:2886 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Endometrial carcinoma, Alopecia, Brain neoplasm, Hypergonadotropic... |
ORPHA:273 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Osteogenic Sarcoma |
|
Retinoblastoma, Osteosarcoma |
OMIM:259500 |
Mosaic Variegated Aneuploidy Syndrome |
|
Vaginal neoplasm, Rhabdomyosarcoma, Myelodysplasia, Acute lymphoblastic leukemia, Neoplasm, Ambig... |
ORPHA:1052 |
Neurofibromatosis Type 1 |
|
Abnormal hair quantity, Astrocytoma, Precocious puberty, Cryptorchidism, Chronic myelogenous leuk... |
ORPHA:636 |
Neuroendocrine Neoplasm Of Appendix |
|
Elevated hepatic transaminase, Hepatomegaly, Ovarian neoplasm, Adrenocorticotropic hormone excess... |
ORPHA:100079 |
Denys-Drash Syndrome |
|
True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue inappropriate for external g... |
OMIM:194080 |
Basal Cell Nevus Syndrome 1 |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Medulloblastoma, Hamartomatous ... |
OMIM:109400 |
Teratoma, Ovarian |
|
Ovarian teratoma |
OMIM:166950 |
Atypical Werner Syndrome |
|
Abnormal hair whorl, Premature graying of hair, Neoplasm of the breast, Hepatic steatosis, Renal ... |
ORPHA:79474 |
Apert Syndrome |
|
Ovarian neoplasm |
ORPHA:87 |
Proteus Syndrome |
|
Thymus hyperplasia, Macroorchidism, Testicular neoplasm, Retinal hamartoma, Neoplasm of the thymu... |
ORPHA:744 |