Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Tumor Predisposition Syndrome 4 |
|
Glioma, Meningioma, Breast carcinoma, Sarcoma |
OMIM:609265 |
Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
N Syndrome |
|
Abnormality of chromosome stability, Leukemia, Neoplasm, Cryptorchidism |
OMIM:310465 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Multiple Fibroadenomas Of The Breast |
|
Fibroadenoma of the breast |
OMIM:615554 |
Enchondromatosis, Multiple, Ollier Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:166000 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability, Leukemia, Myelodysplasia |
OMIM:614082 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Multiple Enchondromatosis, Maffucci Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:614569 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma |
ORPHA:2023 |
Acquired Ichthyosis |
|
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma |
ORPHA:454 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Colorectal Cancer, Susceptibility To, 12 |
|
Carcinoma |
OMIM:615083 |
Ollier Disease |
|
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Sarcoma |
ORPHA:296 |
Paraneoplastic Pemphigus |
|
B-cell lymphoma, Thymoma, Sarcoma |
ORPHA:63455 |
Fanconi Anemia, Complementation Group D1 |
|
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Chromosomal breakage induced by cro... |
OMIM:605724 |
Tumor Predisposition Syndrome 1 |
|
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... |
OMIM:614327 |
Progressive Osseous Heteroplasia |
|
Sarcoma |
ORPHA:2762 |
Mast Cell Sarcoma |
|
Hepatomegaly, Sarcoma |
ORPHA:66661 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents |
OMIM:616435 |
Large Congenital Melanocytic Nevus |
|
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma |
ORPHA:626 |
Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
Infantile Myofibromatosis |
|
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Gingival fibromatosis, N... |
ORPHA:2591 |
Liposarcoma |
|
Sarcoma |
ORPHA:69078 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the ce... |
ORPHA:83469 |
Immunodeficiency 54 |
|
Chromosome breakage, Lymphoproliferative disorder, Hepatomegaly |
OMIM:609981 |
Rhabdoid Tumor |
|
Neoplasm of the central nervous system, Renal neoplasm, Neoplasm of the liver, Sarcoma |
ORPHA:69077 |
Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Abnormality of chromosome stability, Neoplasm, Abnormal testis mor... |
ORPHA:100 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Exostoses, Multiple, Type Ii |
|
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses |
OMIM:133700 |
Fanconi Anemia, Complementation Group N |
|
Nephroblastoma, Medulloblastoma, Neuroblastoma, Chromosomal breakage induced by crosslinking agents |
OMIM:610832 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability |
OMIM:600546 |
Lung Cancer |
|
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
Fanconi Anemia, Complementation Group S |
|
Chromosome breakage, Ovarian carcinoma, Breast carcinoma, Ovarian neoplasm |
OMIM:617883 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... |
ORPHA:247806 |
Yellow Nail Syndrome |
|
Renal neoplasm, Biliary tract neoplasm, Neoplasm of the lung, Neoplasm, Sarcoma |
ORPHA:662 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Increased susceptibility to spontaneous sister chromatid exchange |
OMIM:618097 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Lig4 Syndrome |
|
Hepatomegaly, Abnormality of chromosome stability, Cryptorchidism, Lymphoma, Acute leukemia |
ORPHA:99812 |
Werner Syndrome |
|
Renal neoplasm, Acral lentiginous melanoma, Breast carcinoma, Squamous cell carcinoma, Neoplasm o... |
ORPHA:902 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... |
ORPHA:79665 |
Familial Adenomatous Polyposis 1 |
|
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... |
OMIM:175100 |
Basal Cell Nevus Syndrome 2 |
|
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma |
OMIM:620343 |
Acromesomelic Dysplasia, Grebe Type |
|
Sarcoma |
ORPHA:2098 |
Transcobalamin Deficiency |
|
Abnormality of chromosome stability |
ORPHA:859 |
Fanconi Anemia, Complementation Group P |
|
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Squamous cell carcinoma |
OMIM:613951 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Bloom Syndrome |
|
Chromosome breakage, Abnormality of chromosome stability, Cryptorchidism, Lymphoma, Squamous cell... |
OMIM:210900 |
Fanconi Anemia, Complementation Group E |
|
Cryptorchidism, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyrimidine dim... |
OMIM:600901 |
Desmoid Tumor |
|
Fibroma, Neoplasm of the skin, Desmoid tumors |
ORPHA:873 |
Ovarian Fibrothecoma |
|
Fibrosarcoma, Diffuse leiomyomatosis, Ovarian fibroma |
ORPHA:314478 |
Fanconi Anemia, Complementation Group A |
|
Cryptorchidism, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyrimidine dim... |
OMIM:227650 |
Retinoblastoma |
|
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism |
OMIM:300624 |
Fanconi Anemia, Complementation Group O |
|
Chromosome breakage, Cryptorchidism |
OMIM:613390 |
Milroy Disease |
|
Angiosarcoma, Hydrocele testis, Neoplasm of the skin |
ORPHA:79452 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Abnormality of the liver, Esophageal neoplasm, Sarcoma |
ORPHA:44890 |
Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
Fanconi Anemia, Complementation Group C |
|
Cryptorchidism, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyrimidine dim... |
OMIM:227645 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
Fragile X Syndrome |
|
Macroorchidism, Folate-dependent fragile site at Xq28 |
ORPHA:908 |
Tuberous Sclerosis 2 |
|
Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Ependymoma, Gingival fibromatosis, Subep... |
OMIM:613254 |
Attenuated Familial Adenomatous Polyposis |
|
Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma |
ORPHA:220460 |
Terminal Osseous Dysplasia |
|
Fibroma |
OMIM:300244 |
Familial Adenomatous Polyposis |
|
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... |
ORPHA:733 |
Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... |
ORPHA:790 |
Nijmegen Breakage Syndrome |
|
Abnormality of chromosome stability, Glioma, B-cell lymphoma, Rhabdomyosarcoma, Lymphoma, T-cell ... |
ORPHA:647 |
Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage, Biliary atresia |
OMIM:615272 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Chromosome breakage, Cryptorchidism |
OMIM:617052 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Fibrosarcoma, Histiocytoma, Osteosarcoma |
OMIM:112250 |
Neurofibromatosis Type 1 |
|
Astrocytoma, Cryptorchidism, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromo... |
ORPHA:636 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Folate-dependent fragile site at Xq28 |
ORPHA:85327 |
Monosomy 22 |
|
Schwannoma, Hepatosplenomegaly, Gonadal neoplasm, Meningioma, Sarcoma |
ORPHA:96123 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Fibroma, Hepatosplenomegaly |
OMIM:619750 |
Fanconi Anemia, Complementation Group D2 |
|
Cryptorchidism, Prolonged G2 phase of cell cycle, Deficient excision of UV-induced pyrimidine dim... |
OMIM:227646 |
Fanconi Anemia, Complementation Group V |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:617243 |
Multiple Endocrine Neoplasia, Type Iv |
|
Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo... |
OMIM:610755 |
Cowden Syndrome |
|
Endometrial carcinoma, Follicular thyroid carcinoma, Cavernous hemangioma, Breast carcinoma, Hama... |
ORPHA:201 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Testicular neoplasm, Angiofib... |
ORPHA:276152 |
Fanconi Anemia, Complementation Group I |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609053 |
Icf Syndrome |
|
Abnormality of chromosome stability |
ORPHA:2268 |
Meige Disease |
|
Angiosarcoma |
ORPHA:90186 |
Fanconi Anemia, Complementation Group U |
|
Chromosome breakage |
OMIM:617247 |
Fanconi Anemia, Complementation Group B |
|
Abnormality of chromosome stability |
OMIM:300514 |
Lymphedema-Distichiasis Syndrome |
|
Fibrosarcoma |
ORPHA:33001 |
Fanconi Anemia, Complementation Group R |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:617244 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiomyomatosis, Vaginal neoplasm, Esoph... |
ORPHA:1018 |
Meningioma |
|
Neoplasm of the anterior pituitary, Neurofibroma, Chromosomal breakage induced by ionizing radiat... |
ORPHA:2495 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:620133 |
Fanconi Anemia |
|
Abnormality of chromosome stability, Myelodysplasia, Cryptorchidism, Azoospermia, Abnormality of ... |
ORPHA:84 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Parathyroid adenoma, Ut... |
ORPHA:99880 |
Fanconi Anemia, Complementation Group L |
|
Chromosome breakage, Chromosomal breakage induced by crosslinking agents |
OMIM:614083 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Uterine leiomyoma, Thyr... |
ORPHA:143 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Abnormality of chromosome stability |
ORPHA:175 |
Fanconi Anemia, Complementation Group F |
|
Cryptorchidism, Chromosomal breakage induced by crosslinking agents |
OMIM:603467 |
Tuberous Sclerosis Complex |
|
Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui... |
ORPHA:805 |
Revesz Syndrome |
|
Abnormality of chromosome stability |
OMIM:268130 |
Aicardi Syndrome |
|
Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic angiosarcoma, Hemangioma |
OMIM:304050 |
Multiple Endocrine Neoplasia Type 1 |
|
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... |
ORPHA:652 |
Riddle Syndrome |
|
Chromosomal breakage induced by ionizing radiation |
ORPHA:420741 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Schwannoma, Ossifying fibroma, Lisch nodules, Neurofibrosarcoma, Hemangioma, Subcutaneous neurofi... |
ORPHA:363700 |