Serrated Polyposis Syndrome |
|
Ovarian neoplasm, Pancreatic adenocarcinoma, Germ cell neoplasia, Colorectal polyposis, Gastric d... |
ORPHA:157798 |
Melanoma-Pancreatic Cancer Syndrome |
|
Squamous cell carcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Sarcoma, Pancreatic ade... |
OMIM:606719 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Ovarian neoplasm, Abnormal fallopian tube morphology, Primary peritonea... |
ORPHA:145 |
Pancreatic Cancer, Susceptibility To, 5 |
|
Pancreatic adenocarcinoma, Melanoma |
OMIM:618680 |
Li-Fraumeni Syndrome |
|
Rhabdomyosarcoma, Neoplasm of the pancreas, Neoplasm of the larynx, Choriocarcinoma, Hodgkin lymp... |
ORPHA:524 |
Li-Fraumeni Syndrome |
|
Acute leukemia, Prostate neoplasm, Neoplasm of the pancreas, Soft tissue sarcoma, Choriocarcinoma... |
OMIM:151623 |
Cervical Vertebral Dysplasia |
|
Anterior atlanto-occipital dislocation, Cervical vertebral facet hypoplasia, Cervical vertebral d... |
OMIM:118005 |
Nut Midline Carcinoma |
|
Pancreatic squamous cell carcinoma, Squamous cell carcinoma, Oropharyngeal squamous cell carcinom... |
ORPHA:443167 |
Subependymoma |
|
Spinal cord tumor, Ovarian neoplasm, Ependymoma, Neoplasm of the lung, Neoplasm of the breast, Su... |
ORPHA:251639 |
Ependymoma |
|
Spinal cord tumor, Ovarian neoplasm, Ependymoma, Neoplasm of the lung, Neoplasm of the breast, Su... |
ORPHA:251636 |
Pancreatic Cancer |
|
Neoplasm of the pancreas |
OMIM:260350 |
Cutaneous Neuroendocrine Carcinoma |
|
Basal cell carcinoma, Merkel cell skin cancer, Squamous cell carcinoma of the skin, Brain neoplas... |
ORPHA:79140 |
Tumor Predisposition Syndrome 1 |
|
Malignant mesothelioma, Uveal melanoma, Renal cell carcinoma, Meningioma, Lung adenocarcinoma, Cu... |
OMIM:614327 |
Gcgr-Related Hyperglucagonemia |
|
Glucagonoma, Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology |
ORPHA:438274 |
Familial Adenomatous Polyposis 3 |
|
Basal cell carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Prostate cancer, Bladder neopl... |
OMIM:616415 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Lipoma, Odontoma, Ampulla of Vater carcinoma, Desmoid tumors, Multiple ... |
ORPHA:79665 |
Familial Melanoma |
|
Neoplasm of the breast, Neoplasm of the stomach, Neoplasm of the pancreas, Melanoma |
ORPHA:618 |
Pancreatic Cancer, Susceptibility To, 1 |
|
Pancreatic adenocarcinoma |
OMIM:606856 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Basal cell carcinoma, Pancreatic adenocarcinoma, Neoplasm of the rectum, Squamous cell carcinoma,... |
ORPHA:454840 |
Pancreatic Cancer, Susceptibility To, 2 |
|
Neoplasm of the pancreas |
OMIM:613347 |
Prostate Cancer/Brain Cancer Susceptibility |
|
Prostate cancer, Neoplasm of the central nervous system |
OMIM:603688 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Lipoma, Odontoma, Desmoid tumors, Fibroadenoma of the breast, Duodenal ... |
ORPHA:247806 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Brain neoplasm, Aden... |
ORPHA:447877 |
Lynch Syndrome 5 |
|
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the pancreas, Ovarian neoplasm, Endomet... |
OMIM:614350 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Esophageal neoplasm, Basal cell carcinoma, Squamous cell carcinoma, Stomach cancer, Renal cell ca... |
ORPHA:79501 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Parathyroid carcinoma, Renal cortical adenoma, Recurrent pancreatitis, Papillary renal cell carci... |
OMIM:145001 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the central nervous system, Neoplasm of the pancreas, Ovarian neoplasm, Hepatomegaly,... |
ORPHA:83469 |
Insulinoma Tumor Suppressor Gene Locus |
|
Insulinoma |
OMIM:606960 |
Infantile Myofibromatosis |
|
Fibroma, Intestinal obstruction, Neoplasm of the pancreas, Gingival fibromatosis, Neoplasm of the... |
ORPHA:2591 |
Familial Adenomatous Polyposis |
|
Lipoma, Odontoma, Pituitary adenoma, Desmoid tumors, Neoplasm of the gastrointestinal tract, Duod... |
ORPHA:733 |
Schwannomatosis 1 |
|
Spinal cord tumor, Meningioma, Peripheral schwannoma, Vestibular schwannoma |
OMIM:162091 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Vertebral hyperostosis |
OMIM:106400 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Butterfly vertebrae, Scoliosis, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis |
OMIM:616566 |
Primary Basilar Invagination |
|
Short neck, Abnormal vertebral morphology, Abnormality of the cervical spine |
ORPHA:2285 |
Tumor Predisposition Syndrome 4 |
|
Stomach cancer, Glioma, Sarcoma, Meningioma, Breast carcinoma |
OMIM:609265 |
Glioma Susceptibility 3 |
|
Acute myeloid leukemia, Medulloblastoma, Astrocytoma, B Acute Lymphoblastic Leukemia, Glioblastom... |
OMIM:613029 |
Lung Cancer |
|
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
Turcot Syndrome With Polyposis |
|
Intestinal polyposis, Cerebellar medulloblastoma, Pituitary adenoma, Desmoid tumors, Neoplasm of ... |
ORPHA:99818 |
Peutz-Jeghers Syndrome |
|
Esophageal neoplasm, Intestinal obstruction, Rectal prolapse, Abnormality of the gallbladder, Neo... |
ORPHA:2869 |
Familial Multinodular Goiter |
|
Basal cell carcinoma, Thyroid carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Colorectal p... |
ORPHA:276399 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the thyroid gland, Basal cell carcinoma, Neoplasm of the pancreas, Neoplasm of the re... |
ORPHA:440437 |
Mismatch Repair Cancer Syndrome 1 |
|
Basal cell carcinoma, T-cell lymphoma, Rhabdomyosarcoma, Pleomorphic xanthoastrocytoma, Leukemia,... |
OMIM:276300 |
Peripheral Primitive Neuroectodermal Tumor |
|
Spinal cord tumor, Neoplasm of the pancreas, Ovarian neoplasm, Jaundice, Pancreatitis, Brain neop... |
ORPHA:370348 |
Lynch Syndrome |
|
Neoplasm of the stomach, Neoplasm of the pancreas, Intestinal polyposis, Neoplasm of the skin, Ma... |
ORPHA:144 |
Von Hippel-Lindau Syndrome |
|
Hepatic hemangioma, Pulmonary capillary hemangiomatosis, Neoplasm of the pancreas, Spinal hemangi... |
OMIM:193300 |
Osteomesopyknosis |
|
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification |
OMIM:608189 |
Vertebral Hypoplasia With Lumbar Kyphosis |
|
Vertebral hypoplasia, Lumbar kyphosis |
OMIM:192900 |
Rhabdoid Tumor Predisposition Syndrome 1 |
|
Medulloblastoma, Choroid plexus carcinoma |
OMIM:609322 |
Pleuropulmonary Blastoma |
|
Medulloblastoma, Rhabdomyosarcoma, Pleuropulmonary blastoma |
OMIM:601200 |
Colorectal Cancer, Susceptibility To, 12 |
|
Carcinoma, Colorectal polyposis |
OMIM:615083 |
Basal Cell Nevus Syndrome 2 |
|
Basal cell carcinoma, Medulloblastoma, Meningioma, Neurofibroma, Angiofibromas |
OMIM:620343 |
Familial Adenomatous Polyposis 1 |
|
Fibroma, Osteoma, Duodenal polyposis, Adrenocortical adenoma, Adenomatous colonic polyposis, Carc... |
OMIM:175100 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Hemivertebrae, Vertebral segmentation defect, Vertebral clefting, Rib fusion, Short neck |
OMIM:608681 |
Peutz-Jeghers Syndrome |
|
Rectal prolapse, Neoplasm of the pancreas, Gastrointestinal carcinoma, Precocious puberty with Se... |
OMIM:175200 |
Familial Pancreatic Carcinoma |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatic adenocarcinoma, Int... |
ORPHA:1333 |
Acrodysplasia Scoliosis |
|
Scoliosis, Vertebral segmentation defect, Spina bifida occulta |
ORPHA:2956 |
Ovarian Cancer |
|
Dysgerminoma, Ovarian papillary adenocarcinoma, Breast carcinoma |
OMIM:167000 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 2 |
|
Ovarian neoplasm, Breast carcinoma |
OMIM:612555 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 1 |
|
Ovarian neoplasm, Breast carcinoma |
OMIM:604370 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 3 |
|
Ovarian carcinoma, Breast carcinoma |
OMIM:613399 |
Medulloblastoma |
|
Medulloblastoma |
OMIM:155255 |
Spondylosis, Cervical |
|
Spondylolysis, Cervical spondylosis, Spondylolisthesis, Spina bifida occulta |
OMIM:184300 |
Tropical Pancreatitis |
|
Jaundice, Abnormal pancreatic duct morphology, Pancreatic calcification, Pancreatic adenocarcinom... |
ORPHA:103918 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Small cell lung carcinoma, Testicular neoplasm, Female reproductive sys... |
ORPHA:71505 |
Thyroid Cancer, Nonmedullary, 4 |
|
Basal cell carcinoma, Ovarian neoplasm, Papillary thyroid carcinoma, Prostate cancer, Goiter |
OMIM:616534 |
Grfoma |
|
Intestinal obstruction, Neoplasm of the pancreas, Pheochromocytoma, Pituitary adenoma, Parathyroi... |
ORPHA:97261 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... |
OMIM:609813 |
Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Squamous cell carcinoma of the skin, Verruca plana |
OMIM:618231 |
Pilomatrixoma |
|
Pilomatrixoma, Neoplasm of head and neck |
ORPHA:91414 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Ppoma |
|
Intestinal obstruction, Neoplasm of the pancreas, Intrahepatic cholestasis, Hepatomegaly, Choleli... |
ORPHA:97278 |
Muir-Torre Syndrome |
|
Basal cell carcinoma, Adenoma sebaceum, Ovarian neoplasm, Malignant genitourinary tract tumor, Be... |
OMIM:158320 |
Insulinomatosis And Diabetes Mellitus |
|
Insulinoma, Multiple pancreatic beta-cell adenomas |
OMIM:147630 |
Maffucci Syndrome |
|
Neoplasm of the parathyroid gland, Hemangiomatosis, Ovarian neoplasm, Neoplasm of the adrenal cor... |
ORPHA:163634 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Retinal capillary... |
ORPHA:892 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Elevated circulating hepatic transaminase concentration, Hypospadias, H... |
ORPHA:2959 |
Vipoma |
|
Neoplasm of the pancreas, Intrahepatic cholestasis, Hepatomegaly, Increased circulating gonadotro... |
ORPHA:97282 |
Carney Complex |
|
Neoplasm of the stomach, Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hor... |
ORPHA:1359 |
Somatostatinoma |
|
Intestinal obstruction, Steatorrhea, Neoplasm of the pancreas, Intrahepatic cholestasis, Gallblad... |
ORPHA:97283 |
Multiple Endocrine Neoplasia Type 1 |
|
Duodenal ulcer, Neoplasm of the pancreas, Pheochromocytoma, Pituitary growth hormone cell adenoma... |
ORPHA:652 |
Blue Rubber Bleb Nevus |
|
Rectal prolapse, Cerebellar medulloblastoma, Hemangioma, Volvulus, Intestinal bleeding, Abnormali... |
OMIM:112200 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Chemodectoma, Adrenal pheochromocytoma, Renal cell carcinoma, Gastrointestinal stroma tumor, Para... |
OMIM:115310 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Fibroma, Peptic ulcer, Thyroid carcinoma, Pancreatitis, Lipoma, Testicular neoplasm, Renal hamart... |
ORPHA:99880 |
Bazex Syndrome |
|
Liposarcoma, Lung adenocarcinoma, Neoplasm |
ORPHA:166113 |
Parathyroid Carcinoma |
|
Fibroma, Parathyroid carcinoma, Thyroid carcinoma, Peptic ulcer, Pancreatitis, Lipoma, Testicular... |
ORPHA:143 |
Tumor Predisposition Syndrome 2 |
|
Ductal carcinoma in situ, Acute myeloid leukemia, Uveal melanoma, Juvenile type ovarian granulosa... |
OMIM:619975 |
Schöpf-Schulz-Passarge Syndrome |
|
Basal cell carcinoma, Ovarian neoplasm, Squamous cell carcinoma |
ORPHA:50944 |
Opsoclonus-Myoclonus Syndrome |
|
Small cell lung carcinoma, Neoplasm of the lung, Ovarian teratoma, Melanoma, Neuroblastoma, Breas... |
ORPHA:1183 |
Gastrointestinal Stromal Tumor |
|
Esophageal neoplasm, Neoplasm of the stomach, Intestinal obstruction, Neoplasm of the rectum, Neo... |
ORPHA:44890 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Lipoma, Pilomatrixoma, Adenocarcinoma of the colon, Embryonal rhabdomyosarcoma, Multinodular goit... |
OMIM:620189 |
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Squamous cell carcinoma of the skin, Sex reversal |
ORPHA:85112 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Verrucae, Squamous cell carcinoma of the skin |
OMIM:618309 |
Glucagonoma |
|
Intestinal obstruction, Steatorrhea, Neoplasm of the pancreas, Intrahepatic cholestasis, Hepatome... |
ORPHA:97280 |
17Q11 Microdeletion Syndrome |
|
Rhabdomyosarcoma, Cerebellar glioma, Multiple mucosal neuromas, Pheochromocytoma, Glomus jugular ... |
ORPHA:97685 |
Medulloblastoma |
|
Spinal cord tumor, Elevated circulating hepatic transaminase concentration, Cerebellar medullobla... |
ORPHA:616 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Pleuropulmonary blastoma, Ovarian thecoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Goite... |
OMIM:180295 |
Dyskeratosis Congenita |
|
Cirrhosis, Neoplasm of the pancreas, Hepatomegaly, Esophageal stenosis, Lymphoma, Tracheoesophage... |
ORPHA:1775 |
Gastrointestinal Stromal Tumor |
|
Neurofibroma, Intestinal obstruction, Gastrointestinal stroma tumor |
OMIM:606764 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the pancreas, Hepatic arteriovenous malformation, Protein-losing enteropathy, Stomach... |
ORPHA:2929 |
Pilomatrixoma |
|
Pilomatrixoma |
OMIM:132600 |
Neuroblastoma, Susceptibility To, 2 |
|
Neuroblastoma, Ganglioneuroblastoma, Aganglionic megacolon, Ganglioneuroma |
OMIM:613013 |
Retinoblastoma |
|
Retinoblastoma, Lymphoma, Ewing sarcoma, Cleft palate, Osteosarcoma, Pinealoma, Leukemia |
OMIM:180200 |
Gist-Plus Syndrome |
|
Intussusception, Intestinal polyposis, Gastrointestinal stroma tumor |
OMIM:175510 |
Lynch Syndrome 4 |
|
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm |
OMIM:614337 |
Legius Syndrome |
|
Ovarian neoplasm, Acute monocytic leukemia, Non-small cell lung carcinoma, Desmoid tumors, Nephro... |
ORPHA:137605 |
Congenital Central Hypoventilation Syndrome |
|
Neoplasm of the central nervous system, Aganglionic megacolon, Neuroblastoma, Ganglioneuroma, Gan... |
ORPHA:661 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Abnormality of the ovary, Ovarian g... |
ORPHA:206484 |
Fanconi Renotubular Syndrome 5 |
|
Lung adenocarcinoma |
OMIM:618913 |
Familial Multiple Lipomatosis |
|
Medulloblastoma, Odontogenic keratocysts of the jaw |
ORPHA:199276 |
Huriez Syndrome |
|
Squamous cell carcinoma of the skin |
OMIM:181600 |
Steinert Myotonic Dystrophy |
|
Decreased response to growth hormone stimulation test, Male hypogonadism, Elevated circulating he... |
ORPHA:273 |
Fanconi Anemia, Complementation Group N |
|
Acute myeloid leukemia, Anal atresia, Medulloblastoma, Neuroblastoma, Nephroblastoma |
OMIM:610832 |
Gorlin Syndrome |
|
Basal cell carcinoma, Odontogenic keratocysts of the jaw, Ovarian fibroma, Medulloblastoma, Cardi... |
ORPHA:377 |
Carney-Stratakis Syndrome |
|
Intestinal obstruction, Paraganglioma, Gastrointestinal stroma tumor |
ORPHA:97286 |
Basal Cell Nevus Syndrome 1 |
|
Basal cell carcinoma, Cardiac rhabdomyoma, Odontogenic keratocysts of the jaw, Hamartomatous stom... |
OMIM:109400 |
Acquired Hypertrichosis Lanuginosa |
|
Ovarian neoplasm, Glossitis, Neoplasm of the breast, Neoplasm of the respiratory system, Neoplasm... |
ORPHA:2221 |
Multiple Endocrine Neoplasia, Type I |
|
Peptic ulcer, Glucagonoma, Adenoma sebaceum, Adrenocortical adenoma, Pancreatic islet cell adenom... |
OMIM:131100 |
Monosomy 9Q22.3 |
|
Basal cell carcinoma, Rhabdomyosarcoma, Odontogenic keratocysts of the jaw, Ovarian fibroma, Card... |
ORPHA:77301 |
Asbestos Intoxication |
|
Lung adenocarcinoma, Malignant mesothelioma |
ORPHA:2302 |
Disabling Pansclerotic Morphea Of Childhood |
|
Squamous cell carcinoma of the skin |
OMIM:620443 |
Attenuated Familial Adenomatous Polyposis |
|
Fibroma, Neoplasm of the stomach, Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the c... |
ORPHA:220460 |
Premature Ovarian Failure 8 |
|
Streak ovary, Ovarian neoplasm, Elevated circulating luteinizing hormone level, Elevated circulat... |
OMIM:615723 |
Platelet Disorder, Undefined |
|
Neuroblastoma, Hematological neoplasm |
OMIM:173420 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Neoplasm of the thyroid gland, Ovarian neoplasm, Neoplasm of the breast, Visceral angiomatosis, H... |
ORPHA:137608 |
Multiple Endocrine Neoplasia, Type Iv |
|
Pancreatic endocrine tumor, Carcinoma, Primary hyperparathyroidism, Carcinoid tumor, Pituitary ad... |
OMIM:610755 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Neoplasm of the stomach, Neuroendocrine neoplasm, Small cell lung carcinoma, Pancreatic endocrine... |
ORPHA:99889 |
46,Xy Sex Reversal 10 |
|
Gonadal dysgenesis, Ovotestis, Hypospadias, Perineal hypospadias, Bifid scrotum, Decreased testic... |
OMIM:616425 |
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
Hamartoma of tongue, Benign neoplasm of the central nervous system, Cryptorchidism |
ORPHA:1338 |
Carney Triad |
|
Leiomyosarcoma, Adrenocortical adenoma, Pheochromocytoma, Gastrointestinal stroma tumor, Paragang... |
ORPHA:139411 |
Thymic Neuroendocrine Tumor |
|
Neoplasm of the endocrine system, Pancreatic islet cell adenoma, Neoplasm of the thymus, Primary ... |
ORPHA:97289 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Cryptorchidism, Squamous cell carcinoma of the skin, Myelodysplasia |
OMIM:620365 |
Retinoblastoma |
|
Rhabdomyosarcoma, Leiomyosarcoma, Retinoblastoma, Lymphoma, Ewing sarcoma, Melanoma, Glioma, Clef... |
ORPHA:790 |
Xeroderma Pigmentosum, Complementation Group E |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma |
OMIM:278740 |
46,Xy Sex Reversal 6 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Chordee, Sex reversal, Dysgerminoma, Gonad... |
OMIM:613762 |
Nijmegen Breakage Syndrome |
|
Rhabdomyosarcoma, Anal stenosis, Lymphoma, Anal atresia, Glioma, Medulloblastoma, Cleft palate |
OMIM:251260 |
Lambert-Eaton Myasthenic Syndrome |
|
Small cell lung carcinoma, Xerostomia |
ORPHA:43393 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Pituitary corticotropic cell adenoma, Pulmonary carcinoid ... |
ORPHA:276152 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Parathyroid adenoma |
ORPHA:358 |
Werner Syndrome |
|
Neoplasm of the oral cavity, Thyroid carcinoma, Renal neoplasm, Ovarian neoplasm, Aplasia/Hypopla... |
ORPHA:902 |
Cowden Syndrome 1 |
|
Carcinoma, Fibroadenoma of the breast, High palate, Furrowed tongue, Hamartomatous polyposis, Var... |
OMIM:158350 |
Oculocutaneous Albinism Type 1B |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma |
ORPHA:79434 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Ganglioneuroblastoma, Neoplasm of the nervous system, Aganglionic megacolon |
ORPHA:2151 |
Xeroderma Pigmentosum, Complementation Group C |
|
Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Actinic keratosis |
OMIM:278720 |
Neurofibromatosis Type 1 |
|
Rhabdomyosarcoma, Spinal neurofibroma, Pheochromocytoma, Neoplasm of the skin, Gastrointestinal s... |
ORPHA:636 |
Adrenocortical Carcinoma |
|
Adrenocorticotropic hormone deficiency, Lung adenocarcinoma, Adrenocortical carcinoma |
ORPHA:1501 |
Xeroderma Pigmentosum, Complementation Group B |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Hypogonadism, Neoplasm, Cutaneous mela... |
OMIM:610651 |
Pineoblastoma |
|
Pinealoma, Retinoblastoma |
ORPHA:251909 |
Lhermitte-Duclos Disease |
|
Neoplasm of the thyroid gland, Trichilemmoma, Ovarian neoplasm, Fibroadenoma of the breast, Macro... |
ORPHA:65285 |
Bohring-Opitz Syndrome |
|
Annular pancreas, Cholelithiasis, Medulloblastoma, Cleft palate, Nephroblastoma |
ORPHA:97297 |
Common Variable Immunodeficiency |
|
Elevated circulating hepatic transaminase concentration, Lymphoma, Anal atresia, Gastrointestinal... |
ORPHA:1572 |
Fanconi Anemia, Complementation Group S |
|
Narrow palate, Ovarian carcinoma, Ovarian neoplasm, Breast carcinoma |
OMIM:617883 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Focal pancreatic islet hyperplasia, Diffuse pancreatic islet hyperplasia, Elevated circulating gr... |
ORPHA:79644 |
Oculocutaneous Albinism Type 1A |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:79431 |
Dyskeratosis Congenita, Digenic |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma, Decreased testicular size, O... |
OMIM:620040 |
Xeroderma Pigmentosum, Complementation Group A |
|
Squamous cell carcinoma of the skin, Melanoma |
OMIM:278700 |
Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis |
OMIM:607341 |
46,Xy Sex Reversal 7 |
|
Gonadal dysgenesis, male, Streak ovary, Abnormal epididymis morphology, Hypoplasia of the fallopi... |
OMIM:233420 |
Neuroendocrine Neoplasm Of Appendix |
|
Hepatomegaly, Ovarian neoplasm, Elevated circulating hepatic transaminase concentration, Adrenoco... |
ORPHA:100079 |
Sporadic Creutzfeldt-Jakob Disease |
|
Astrocytosis, Recurrent aspiration pneumonia, Gliosis |
ORPHA:204 |
Ectopic Aldosterone-Producing Tumor |
|
Renal cortical adenoma, Ovarian neoplasm |
ORPHA:231632 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma |
ORPHA:220295 |
Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Pancreatitis, Abnormal circulating interleukin... |
ORPHA:70578 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Increased circulating interferon-gamma concentration, Knee osteoarthritis, Arthritis, Rheumatoid ... |
ORPHA:85410 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Cirrhosis, Squamous cell carcinoma of the skin, Hepatic necrosis, Oral leukoplakia, Myelodysplasia |
OMIM:127550 |
Pyomyositis |
|
Testicular teratoma |
ORPHA:764 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Arthritis, Symmetric polyarthritis, Abnormal circulating interleukin concentration, Synovitis |
ORPHA:85435 |
Oculocutaneous Albinism Type 2 |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma |
ORPHA:79432 |
Macrophage Activation Syndrome |
|
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... |
ORPHA:158061 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, I... |
ORPHA:542323 |
Dermatomyositis |
|
Elevated circulating hepatic transaminase concentration, Lymphoma, Gastrointestinal stroma tumor,... |
ORPHA:221 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Pulmonary carcinoid tumor, Papillary r... |
ORPHA:363618 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Pneumonia, Salmonella osteomyelitis, Abnormal circulating interleukin concentration, Lymphadenitis |
ORPHA:319552 |
Progressive Non-Fluent Aphasia |
|
Astrocytosis |
ORPHA:100070 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Spinal cord tumor, Narrow palate, Hypospadias, Pilomatrixoma, Intestinal malrotation, Meningioma,... |
ORPHA:353281 |
Sweet Syndrome |
|
Panniculitis, Increased circulating interleukin 6 concentration, Myositis, Predominantly dermal n... |
ORPHA:3243 |
Sotos Syndrome |
|
Aganglionic megacolon, Small cell lung carcinoma, Hypospadias, Phimosis, Cryptorchidism, Neurobla... |
ORPHA:821 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Astrocytosis |
OMIM:600795 |
Familial Infantile Bilateral Striatal Necrosis |
|
Basal ganglia gliosis, Astrocytosis |
ORPHA:225154 |
Tetrasomy 9P |
|
Jaundice, Biliary atresia, Pilomatrixoma, High palate, Oligozoospermia, Median cleft palate, Bifi... |
ORPHA:3310 |
Behavioral Variant Of Frontotemporal Dementia |
|
Astrocytosis |
ORPHA:275864 |
Nmda Receptor Encephalitis |
|
Testicular teratoma, Neoplasm of the lung, Ovarian teratoma, Neoplasm of the thymus, Neuroblastom... |
ORPHA:217253 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Astrocytosis |
OMIM:611087 |
Hermansky-Pudlak Syndrome |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin |
ORPHA:79430 |
Autoimmune Lymphoproliferative Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Panniculitis, Gastritis, Recurrent aphthou... |
ORPHA:3261 |
Teratoma, Ovarian |
|
Ovarian teratoma |
OMIM:166950 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Smooth tongue, Squamous cell carcinoma of the skin |
ORPHA:79396 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Narrow palate, Hypospadias, Pilomatrixoma, High palate, Intestinal malrotation, Meningioma, Crypt... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Narrow palate, Hypospadias, Pilomatrixoma, High palate, Intestinal malrotation, Meningioma, Crypt... |
ORPHA:353277 |
Inherited Creutzfeldt-Jakob Disease |
|
Astrocytosis |
ORPHA:282166 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal circulating interferon-gamma concentration, Panhypogammaglobulinemia, Chronic mucocutane... |
ORPHA:79124 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Lissencephaly, Astrocytosis, Pachygyria |
ORPHA:258 |
Intrahepatic Cholestasis Of Pregnancy |
|
Abnormal circulating interleukin concentration, Cholecystitis |
ORPHA:69665 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Astrocytosis, Gliosis |
OMIM:203700 |
Cockayne Syndrome Type 3 |
|
Astrocytosis, Keratoconjunctivitis sicca |
ORPHA:90324 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Astrocytosis |
ORPHA:309854 |
Supranuclear Palsy, Progressive, 1 |
|
Astrocytosis, Gliosis |
OMIM:601104 |