Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
Tumor Predisposition Syndrome 1 |
|
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... |
OMIM:614327 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Pancreatic Cancer, Susceptibility To, 5 |
|
Melanoma, Pancreatic adenocarcinoma |
OMIM:618680 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Multiple Fibroadenomas Of The Breast |
|
Fibroadenoma of the breast |
OMIM:615554 |
Tumor Predisposition Syndrome 4 |
|
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma |
OMIM:609265 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ... |
ORPHA:157798 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Lung Cancer |
|
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Primary peritoneal carcinoma, Melan... |
ORPHA:145 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Pancreatic Cancer |
|
Neoplasm of the pancreas |
OMIM:260350 |
Familial Adenomatous Polyposis 3 |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... |
OMIM:616415 |
Desmoid Disease, Hereditary |
|
Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma |
OMIM:135290 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... |
ORPHA:454840 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Familial Melanoma |
|
Neoplasm of the pancreas, Melanoma, Neoplasm of the breast, Neoplasm of the stomach |
ORPHA:618 |
Pancreatic Cancer, Susceptibility To, 1 |
|
Pancreatic adenocarcinoma |
OMIM:606856 |
Pancreatic Cancer, Susceptibility To, 2 |
|
Neoplasm of the pancreas |
OMIM:613347 |
Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma |
ORPHA:2023 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... |
ORPHA:247806 |
Enchondromatosis, Multiple, Ollier Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:166000 |
Muir-Torre Syndrome |
|
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... |
OMIM:158320 |
Lynch Syndrome 5 |
|
Neoplasm of the pancreas, Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma, Ov... |
OMIM:614350 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Hurthle cell thyroid adenoma, Papillary renal cel... |
OMIM:145001 |
Infantile Myofibromatosis |
|
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Intestinal obstruction, ... |
ORPHA:2591 |
Gardner Syndrome |
|
Duodenal polyposis, Brain neoplasm, Astrocytoma, Multiple gastric polyps, Papillary thyroid carci... |
ORPHA:79665 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... |
ORPHA:79501 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Ileu... |
ORPHA:83469 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Zollinger-Ellison syndrome, Cholelithiasis, Abnormal biliary tract morp... |
ORPHA:438274 |
Insulinoma Tumor Suppressor Gene Locus |
|
Insulinoma |
OMIM:606960 |
Multiple Enchondromatosis, Maffucci Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:614569 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla... |
OMIM:175100 |
Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the nose, Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Neop... |
ORPHA:2869 |
Familial Adenomatous Polyposis |
|
Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga... |
ORPHA:733 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis |
OMIM:608189 |
Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Verruca plana, Squamous cell carcinoma of the skin |
OMIM:618231 |
Hereditary Mixed Polyposis Syndrome |
|
Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposi... |
ORPHA:157794 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Large intestinal polyposis, Colo... |
ORPHA:247798 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... |
ORPHA:220460 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... |
ORPHA:447877 |
Familial Colorectal Cancer Type X |
|
Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla... |
ORPHA:440437 |
Milroy Disease |
|
Angiosarcoma, Neoplasm of the skin |
ORPHA:79452 |
Bazex Syndrome |
|
Neoplasm, Lung adenocarcinoma, Liposarcoma |
ORPHA:166113 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Basal cell carcinoma, Verrucae, Squamous cell carcinoma |
OMIM:618267 |
Lynch Syndrome |
|
Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma... |
ORPHA:144 |
Glioma susceptibility 9 |
|
Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia |
OMIM:616568 |
Pilomatrixoma |
|
Pilomatrixoma, Neoplasm of head and neck |
ORPHA:91414 |
Paraneoplastic Pemphigus |
|
B-cell lymphoma, Thymoma, Sarcoma |
ORPHA:63455 |
Acquired Ichthyosis |
|
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma |
ORPHA:454 |
Disseminated Superficial Actinic Porokeratosis |
|
Squamous cell carcinoma |
ORPHA:79152 |
Fanconi Renotubular Syndrome 5 |
|
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis |
OMIM:618913 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... |
OMIM:193300 |
Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma |
ORPHA:1221 |
Familial Multinodular Goiter |
|
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ... |
ORPHA:276399 |
Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Function... |
ORPHA:1333 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Biliary tract abnormality, Multiple g... |
OMIM:175200 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... |
ORPHA:103918 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenoc... |
OMIM:620189 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Brain neoplasm, Jaundice, Spinal cord tumor, Ovarian neoplasm, Peripher... |
ORPHA:370348 |
Cutaneous Neuroendocrine Carcinoma |
|
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell... |
ORPHA:79140 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Asbestos Intoxication |
|
Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ... |
ORPHA:2302 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... |
OMIM:174900 |
Progressive Osseous Heteroplasia |
|
Sarcoma |
ORPHA:2762 |
Ollier Disease |
|
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Sarcoma |
ORPHA:296 |
Meige Disease |
|
Angiosarcoma, Pleural effusion |
ORPHA:90186 |
Mast Cell Sarcoma |
|
Hepatomegaly, Sarcoma |
ORPHA:66661 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Squamous cell carcinoma of the skin, Verrucae |
OMIM:618309 |
Pilomatrixoma |
|
Pilomatrixoma |
OMIM:132600 |
Liposarcoma |
|
Sarcoma |
ORPHA:69078 |
Grfoma |
|
Neoplasm of the thymus, Zollinger-Ellison syndrome, Pheochromocytoma, Hepatomegaly, Intermittent ... |
ORPHA:97261 |
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Squamous cell carcinoma of the skin |
ORPHA:85112 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Elev... |
ORPHA:97278 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Squamous cell carcinoma |
OMIM:613736 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... |
ORPHA:71505 |
Desmoid Tumor |
|
Intestinal polyposis, Intestinal obstruction, Malabsorption, Desmoid tumors, Neoplasm of the skin... |
ORPHA:873 |
Basal Cell Nevus Syndrome 2 |
|
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma |
OMIM:620343 |
Large Congenital Melanocytic Nevus |
|
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma |
ORPHA:626 |
Hyperkeratosis Lenticularis Perstans |
|
Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:409 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Elev... |
ORPHA:97283 |
Insulinomatosis And Diabetes Mellitus |
|
Insulinoma, Multiple pancreatic beta-cell adenomas |
OMIM:147630 |
Neuroendocrine Neoplasm Of Appendix |
|
Elevated hepatic transaminase, Hepatomegaly, Functional intestinal obstruction, Mechanical ileus,... |
ORPHA:100079 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Follicular thyroid carcinoma, Elevated circulating growth... |
ORPHA:97282 |
Schöpf-Schulz-Passarge Syndrome |
|
Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:50944 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibroma |
OMIM:606764 |
Pleuropulmonary Blastoma |
|
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma |
OMIM:601200 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Fibroma, Primary h... |
ORPHA:99880 |
Ovarian Fibrothecoma |
|
Fibrosarcoma, Diffuse leiomyomatosis, Ovarian fibroma, Pleural effusion |
ORPHA:314478 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
Congenital Macroglossia |
|
Macroglossia, Neurofibroma, Abnormal hepatic glycogen storage |
ORPHA:2430 |
Huriez Syndrome |
|
Squamous cell carcinoma of the skin |
OMIM:181600 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Fibroma, Primary h... |
ORPHA:143 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Elevated hepatic transaminase, Neoplasm, Gastroesophageal reflux, Hepat... |
ORPHA:2959 |
Turcot Syndrome With Polyposis |
|
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi... |
ORPHA:99818 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Carcinoma, Squamous cell carcinoma |
OMIM:615225 |
Multiple Endocrine Neoplasia Type 1 |
|
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... |
ORPHA:652 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t... |
ORPHA:892 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal obstruction, Elev... |
ORPHA:97280 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Multiple pulmonary cysts, Cutaneous leiomyosarcoma, Spontaneous pneumothorax, Tri... |
OMIM:135150 |
Xeroderma Pigmentosum Variant |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:90342 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Elevated hepatic transaminase, B-cell lymphoma, Myelodysplasia, Hematolog... |
ORPHA:158057 |
Carney Complex |
|
Neoplasm of the stomach, Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma... |
ORPHA:1359 |
Rhabdoid Tumor |
|
Neoplasm of the central nervous system, Renal neoplasm, Neoplasm of the liver, Sarcoma |
ORPHA:69077 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Rectal prolapse, Neopl... |
ORPHA:424016 |
Cowden Syndrome 1 |
|
Colonic diverticula, Goiter, Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hamartomato... |
OMIM:158350 |
Adrenocortical Carcinoma |
|
Adrenocortical carcinoma, Lung adenocarcinoma |
ORPHA:1501 |
Opsoclonus-Myoclonus Syndrome |
|
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... |
ORPHA:1183 |
Yellow Nail Syndrome |
|
Renal neoplasm, Recurrent respiratory infections, Biliary tract neoplasm, Bronchiectasis, Neoplas... |
ORPHA:662 |
Legius Syndrome |
|
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... |
ORPHA:137605 |
Aicardi Syndrome |
|
Hiatus hernia, Recurrent pneumonia, Teratoma, Carcinoma, Cleft palate, Lipoma, Hepatoblastoma, Me... |
OMIM:304050 |
Oncogenic Osteomalacia |
|
Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t... |
ORPHA:352540 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo... |
OMIM:115310 |
Terminal Osseous Dysplasia |
|
Fibroma, Cleft palate |
OMIM:300244 |
Junctional Epidermolysis Bullosa Inversa |
|
Basal cell carcinoma, Gastrointestinal inflammation, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79405 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl... |
ORPHA:2929 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Esophageal stenosis, Malabsorption, Splenomegaly, Lymphom... |
ORPHA:1775 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom... |
OMIM:150800 |
Carney-Stratakis Syndrome |
|
Gastrointestinal stroma tumor, Intestinal obstruction, Paraganglioma |
ORPHA:97286 |
Rhabdomyosarcoma, Embryonal, 1 |
|
Embryonal rhabdomyosarcoma |
OMIM:268210 |
Rhabdomyosarcoma 2 |
|
Alveolar rhabdomyosarcoma |
OMIM:268220 |
Schopf-Schulz-Passarge Syndrome |
|
Basal cell carcinoma, Poroma, Apocrine hidrocystoma, Squamous cell carcinoma |
OMIM:224750 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Nephroblastoma, Embryonal rhabdomyosarcoma, Pleuropulmonary blastoma |
OMIM:180295 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Laryngeal carcinoma, Decreased testicular size, Carcinoma |
OMIM:610644 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Basal cell carcinoma, Gastrointestinal inflammation, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79406 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Squamous cell carcinoma of the vulva, Verrucae, Anal canal squamous carcinoma, Squamous cell carc... |
ORPHA:217390 |
Tuberous Sclerosis 2 |
|
Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Ependymoma, Gingival fibromatosis, Subep... |
OMIM:613254 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Myelodysplasia, Squamous cell carcinoma of the skin, Pulmonary fibrosis, Emp... |
OMIM:620365 |
Oral Submucous Fibrosis |
|
Oropharyngeal squamous cell carcinoma |
ORPHA:357154 |
Dermatomyositis |
|
Recurrent respiratory infections, Gastrointestinal stroma tumor, Lymphoma, Abnormal pulmonary int... |
ORPHA:221 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Fibrosarcoma, Histiocytoma, Osteosarcoma |
OMIM:112250 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Fibroma, Recurrent pneumonia, High palate, Hepatosplenomegaly |
OMIM:619750 |
Xeroderma Pigmentosum, Complementation Group E |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
OMIM:278740 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Basal cell carcinoma, Gastrointestinal inflammation, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79411 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Hepatic fibrosis, Neoplasm of the gallbladder, Adenocarcinoma of the large... |
ORPHA:171 |
Leukemia, Acute, X-Linked |
|
Acute leukemia |
OMIM:308960 |
Acromesomelic Dysplasia, Grebe Type |
|
Sarcoma |
ORPHA:2098 |
Retinoblastoma |
|
Lymphoma, Cleft palate, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
Epidermodysplasia Verruciformis |
|
Verrucae, Squamous cell carcinoma |
ORPHA:302 |
Lambert-Eaton Myasthenic Syndrome |
|
Small cell lung carcinoma, Xerostomia |
ORPHA:43393 |
Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Peptic ulcer, P... |
OMIM:131100 |
Necrobiosis Lipoidica |
|
Squamous cell carcinoma |
ORPHA:542592 |
Neurofibromatosis, Familial Spinal |
|
Symmetric spinal nerve root neurofibromas, Neurofibroma, Plexiform neurofibroma, Lisch nodules, S... |
OMIM:162210 |
Oculocutaneous Albinism Type 1B |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:79434 |
Xeroderma Pigmentosum, Complementation Group F |
|
Seborrheic keratosis, Keratoacanthoma, Squamous cell carcinoma, Basal cell carcinoma, Neoplasm of... |
OMIM:278760 |
Xeroderma Pigmentosum, Complementation Group C |
|
Actinic keratosis, Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma |
OMIM:278720 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Squamous cell carcinoma |
OMIM:602540 |
Carney Triad |
|
Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenoma, Pheochromocytoma, Paragang... |
ORPHA:139411 |
Werner Syndrome |
|
Renal neoplasm, Acral lentiginous melanoma, Pulmonary artery stenosis, Breast carcinoma, Squamous... |
ORPHA:902 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Pneumonia, Gastrointestinal stro... |
ORPHA:1572 |
Lymphedema-Distichiasis Syndrome |
|
Cleft palate, Fibrosarcoma, Abnormality of the pulmonary vasculature |
ORPHA:33001 |
Pudendal Neuralgia |
|
Neoplasm of the genitourinary tract, Anal canal adenocarcinoma, Genital neoplasm |
ORPHA:60039 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiom... |
ORPHA:1018 |
Xeroderma Pigmentosum, Complementation Group B |
|
Basal cell carcinoma, Neoplasm, Squamous cell carcinoma of the skin, Cutaneous melanoma |
OMIM:610651 |
Dyskeratosis Congenita, Digenic |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Gastroesophageal reflux, Ora... |
OMIM:620040 |
Cowden Syndrome |
|
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma... |
ORPHA:201 |
Oculocutaneous Albinism Type 1A |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:79431 |
Xeroderma Pigmentosum, Variant Type |
|
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma |
OMIM:278750 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Pancreatic adenocarcinoma, Adrenal hyperplasia, Neoplasm... |
ORPHA:99889 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Actinic keratosis, Oropharyngeal squamous cell carcinoma, Breast carcinoma |
OMIM:614564 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Multinodular goiter, Squamous cell carcinoma |
OMIM:618373 |
Lynch Syndrome 4 |
|
Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm |
OMIM:614337 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Esophageal stricture, Gastrointestinal inflammation, Squamous cell carcinoma, Basal cell carcinom... |
ORPHA:79409 |
Multiple Endocrine Neoplasia Type 4 |
|
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary prolactin cell adenoma, Carcinoid ... |
ORPHA:276152 |
Tuberous Sclerosis 1 |
|
Chordoma, Astrocytoma, Ependymoma, Gingival fibromatosis, Cardiac rhabdomyoma, Renal cell carcino... |
OMIM:191100 |
Gitelman Syndrome |
|
Parathyroid adenoma, Neoplasm of the pancreas |
ORPHA:358 |
Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, Pituitary ade... |
ORPHA:97289 |
Xeroderma Pigmentosum, Complementation Group A |
|
Melanoma, Squamous cell carcinoma of the skin |
OMIM:278700 |
Lhermitte-Duclos Disease |
|
Fibroadenoma of the breast, Ovarian neoplasm, Macroglossia, Trichilemmoma, Neoplasm of the thyroi... |
ORPHA:65285 |
Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Cleft palate, Melanoma, Retino... |
ORPHA:790 |
Recurrent Respiratory Papillomatosis |
|
Dysphagia, Squamous cell carcinoma |
ORPHA:60032 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
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Basal cell carcinoma, Gastrointestinal inflammation, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79410 |
Dyskeratosis Congenita, X-Linked |
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Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Myelodysplasia, Cryptorchidism, Es... |
OMIM:305000 |
Diamond-Blackfan Anemia |
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Acute myeloid leukemia, Cleft soft palate, Myelodysplasia, High palate, Adenocarcinoma of the col... |
ORPHA:124 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
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Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:220295 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
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Spontaneous esophageal perforation, Esophageal stricture, Squamous cell carcinoma, Dysphagia, Abn... |
OMIM:226600 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
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Eosinophilic infiltration of the esophagus, Squamous cell carcinoma |
OMIM:243700 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
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Diffuse pancreatic islet hyperplasia, Multiple pancreatic beta-cell adenomas, Focal pancreatic is... |
ORPHA:79644 |
Fanconi Anemia, Complementation Group P |
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Cryptorchidism, Squamous cell carcinoma |
OMIM:613951 |
Tuberous Sclerosis Complex |
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Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui... |
ORPHA:805 |
Osteogenic Sarcoma |
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Retinoblastoma, Osteosarcoma |
OMIM:259500 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
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Myelodysplasia, Hepatic necrosis, Squamous cell carcinoma of the skin, Cirrhosis, Oral leukoplakia |
OMIM:127550 |
Oculocutaneous Albinism Type 2 |
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Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma |
ORPHA:79432 |
Monosomy 22 |
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Schwannoma, Hepatosplenomegaly, Gonadal neoplasm, High palate, Meningioma, Sarcoma |
ORPHA:96123 |
Cowden Syndrome 6 |
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Colonic diverticula, Fibroadenoma of the breast, Breast carcinoma, Furrowed tongue, Hamartomatous... |
OMIM:615109 |
Papillon-Lefèvre Syndrome |
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Melanoma, Liver abscess, Neoplasm of the skin, Squamous cell carcinoma |
ORPHA:678 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Pulmonary carcinoid tumor, Papillary renal cell carcinoma, Abnormal intrahepatic bile duct morpho... |
ORPHA:363618 |
Benign Schwannoma |
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Intestinal polyposis, Schwannoma, Peripheral schwannoma, Scleral schwannoma, Vestibular schwannom... |
ORPHA:252164 |
Neurofibromatosis Type 1 |
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Astrocytoma, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromocytoma, Meningio... |
ORPHA:636 |
Chromomycosis |
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Multiple cutaneous malignancies, Squamous cell carcinoma |
ORPHA:182 |
Neurofibromatosis, Type I |
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Astrocytoma, Rhabdomyosarcoma, Neurofibroma, Optic nerve glioma, Pheochromocytoma, Meningioma, Pl... |
OMIM:162200 |
17Q11 Microdeletion Syndrome |
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Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp... |
ORPHA:97685 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
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Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Osteoma, Intestinal bleeding, ... |
ORPHA:261584 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
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Furrowed tongue, Oral leukoplakia, Squamous cell carcinoma |
OMIM:148210 |
Hermansky-Pudlak Syndrome |
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Gastrointestinal hemorrhage, Basal cell carcinoma, Squamous cell carcinoma of the skin, Malabsorp... |
ORPHA:79430 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
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Esophageal stenosis, Anal fissure, Esophageal stricture, Squamous cell carcinoma, Gastroesophagea... |
ORPHA:89842 |
Bloom Syndrome |
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Cryptorchidism, Lymphoma, Squamous cell carcinoma, Leukemia, Hepatic steatosis |
OMIM:210900 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Intestinal malrotation, Cryptorchidism, Pilomatrixoma, Spinal cord tumor, Narrow palate, Neoplasm... |
ORPHA:353281 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
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Squamous cell carcinoma of the skin, Smooth tongue |
ORPHA:79396 |
Tetrasomy 9P |
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Absent gallbladder, Pilomatrixoma, Jaundice, Cryptorchidism, Biliary atresia, Cleft palate, High ... |
ORPHA:3310 |
Rothmund-Thomson Syndrome Type 2 |
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Myelodysplasia, Cryptorchidism, Lymphoma, Cleft palate, Squamous cell carcinoma, Functional abnor... |
ORPHA:221016 |
Rothmund-Thomson Syndrome Type 1 |
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Myelodysplasia, Cryptorchidism, Functional abnormality of the gastrointestinal tract, Squamous ce... |
ORPHA:221008 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Schwannoma, Ossifying fibroma, High palate, Lisch nodules, Neurofibrosarcoma, Hemangioma, Subcuta... |
ORPHA:363700 |
Rothmund-Thomson Syndrome, Type 2 |
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Cryptorchidism, Squamous cell carcinoma, Anteriorly placed anus, Basal cell carcinoma, High palat... |
OMIM:268400 |
Sotos Syndrome |
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Sacrococcygeal teratoma, Astrocytoma, Aganglionic megacolon, Small cell lung carcinoma, Acute lym... |
ORPHA:821 |
Glycogen Storage Disease Ic |
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Hepatomegaly, Chronic pancreatitis, Inflammation of the large intestine, Hepatocellular carcinoma... |
OMIM:232240 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Adrenocortical carcinoma, Cryptorchidism, Pancreatic hyperplasia, Macroglossia, Gon... |
OMIM:130650 |
Rothmund-Thomson Syndrome |
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Myelodysplasia, Squamous cell carcinoma, Melanoma, Basal cell carcinoma, Neoplasm of the skin, Le... |
ORPHA:2909 |
Autoimmune Lymphoproliferative Syndrome |
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Hepatomegaly, Gastritis, B-cell lymphoma, Hepatocellular carcinoma, Fibroadenoma of the breast, T... |
ORPHA:3261 |
Hereditary Acrokeratotic Poikiloderma |
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Abnormality of the gastrointestinal tract, Xerostomia, Squamous cell carcinoma, Ankyloglossia, Or... |
ORPHA:2907 |
Kindler Epidermolysis Bullosa |
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Esophageal stricture, Neoplasm of the urethra, Squamous cell carcinoma, Inflammation of the large... |
ORPHA:2908 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Intestinal malrotation, Cryptorchidism, Pilomatrixoma, Narrow palate, Hydrocele testis, High pala... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Intestinal malrotation, Cryptorchidism, Pilomatrixoma, Narrow palate, Hydrocele testis, High pala... |
ORPHA:353277 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
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Anal fissure, Gastrointestinal inflammation, Squamous cell carcinoma, Basal cell carcinoma, Gastr... |
ORPHA:79408 |