Melanoma-Pancreatic Cancer Syndrome |
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Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Pancreatic Cancer, Susceptibility To, 5 |
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Melanoma, Pancreatic adenocarcinoma |
OMIM:618680 |
Li-Fraumeni Syndrome |
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Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
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Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer |
ORPHA:145 |
Nut Midline Carcinoma |
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Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Serrated Polyposis Syndrome |
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Pancreatic adenocarcinoma, Biliary tract neoplasm, Schwannoma, Bladder carcinoma, Hodgkin lymphom... |
ORPHA:157798 |
Li-Fraumeni Syndrome |
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Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Pancreatic Cancer |
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Neoplasm of the pancreas |
OMIM:260350 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
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Neural tube defect |
OMIM:615041 |
Pancreatic Cancer, Susceptibility To, 1 |
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Pancreatic adenocarcinoma |
OMIM:606856 |
Pancreatic Cancer, Susceptibility To, 2 |
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Neoplasm of the pancreas |
OMIM:613347 |
Familial Melanoma |
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Neoplasm of the pancreas, Melanoma, Neoplasm of the breast |
ORPHA:618 |
Hyperparathyroidism 2 With Jaw Tumors |
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Pancreatic adenocarcinoma, Hyperparathyroidism, Hurthle cell thyroid adenoma, Papillary renal cel... |
OMIM:145001 |
Desmoplastic Small Round Cell Tumor |
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Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Ovar... |
ORPHA:83469 |
Infantile Myofibromatosis |
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Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Gingival fibromatosis, N... |
ORPHA:2591 |
Tumor Predisposition Syndrome 4 |
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Glioma, Meningioma, Breast carcinoma, Sarcoma |
OMIM:609265 |
Reticulum Cell Sarcoma |
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Neoplasm, Sarcoma |
OMIM:267730 |
Lynch Syndrome 5 |
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Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm |
OMIM:614350 |
Myofibromatosis, Infantile, 1 |
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Fibroma, Myofibromatosis |
OMIM:228550 |
Gcgr-Related Hyperglucagonemia |
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Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology, Glucagonoma |
ORPHA:438274 |
Familial Adenomatous Polyposis 3 |
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Endometrial carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Bladder neoplasm, Basal cell ... |
OMIM:616415 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
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Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... |
ORPHA:454840 |
Neural Tube Defects, Folate-Sensitive |
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Spinal dysraphism |
OMIM:601634 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
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Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... |
ORPHA:247806 |
Insulinoma Tumor Suppressor Gene Locus |
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Insulinoma |
OMIM:606960 |
Lambert Syndrome |
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Intrauterine growth retardation, Branchial anomaly |
ORPHA:1296 |
Gardner Syndrome |
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Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... |
ORPHA:79665 |
Ewing Sarcoma |
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Ewing sarcoma |
OMIM:612219 |
Familial Colorectal Cancer Type X |
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Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla... |
ORPHA:440437 |
Punctate Palmoplantar Keratoderma Type 1 |
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Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... |
ORPHA:79501 |
Tropical Calcific Pancreatitis |
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Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis |
OMIM:608189 |
Myelopathy, Htlv-1-Associated |
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Myelopathy |
OMIM:159580 |
Spina Bifida-Hypospadias Syndrome |
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Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Lynch Syndrome |
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Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma... |
ORPHA:144 |
Peutz-Jeghers Syndrome |
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Neoplasm of the nose, Pancreatic adenocarcinoma, Esophageal neoplasm, Biliary tract neoplasm, Enl... |
ORPHA:2869 |
Von Hippel-Lindau Syndrome |
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Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... |
OMIM:193300 |
Peripheral Primitive Neuroectodermal Tumor |
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Neoplasm of the pancreas, Brain neoplasm, Jaundice, Spinal cord tumor, Ovarian neoplasm, Peripher... |
ORPHA:370348 |
Familial Adenomatous Polyposis |
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Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... |
ORPHA:733 |
Alveolar Soft Part Sarcoma |
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Alveolar soft part sarcoma |
OMIM:606243 |
Sarcoma, Synovial |
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Synovial sarcoma |
OMIM:300813 |
Familial Pancreatic Carcinoma |
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Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Breast carcinoma, Hepatosplen... |
ORPHA:1333 |
Tropical Pancreatitis |
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Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... |
ORPHA:103918 |
Undifferentiated Pleomorphic Sarcoma |
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Abnormal peritoneum morphology, 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 |
Maffucci Syndrome |
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Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
Grfoma |
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Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Neopla... |
ORPHA:97261 |
Cancer-Associated Retinopathy |
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Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... |
ORPHA:71505 |
Ppoma |
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Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... |
ORPHA:97278 |
Branchiogenic-Deafness Syndrome |
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Branchial cyst, Branchial fistula, Short stature |
OMIM:609166 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
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Neoplasm of the pancreas, Neoplasm, Hepatic steatosis, Elevated hepatic transaminase |
ORPHA:2959 |
Acquired Ichthyosis |
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Neoplasm, Lymphoma, Multiple myeloma, Sarcoma |
ORPHA:454 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... |
ORPHA:99880 |
Somatostatinoma |
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Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... |
ORPHA:97283 |
Vipoma |
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Neoplasm of the pancreas, Hepatomegaly, Follicular thyroid carcinoma, Elevated circulating growth... |
ORPHA:97282 |
Multiple Endocrine Neoplasia Type 1 |
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Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... |
ORPHA:652 |
Parathyroid Carcinoma |
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Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... |
ORPHA:143 |
Von Hippel-Lindau Disease |
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Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t... |
ORPHA:892 |
Branchiootic Syndrome 3 |
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Branchial cyst |
OMIM:608389 |
Carney Complex |
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Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast,... |
ORPHA:1359 |
Verheij Syndrome |
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Branchial cyst, Short stature, Short neck, Growth delay, Intrauterine growth retardation |
OMIM:615583 |
Ollier Disease |
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Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Sarcoma |
ORPHA:296 |
Anencephaly 1 |
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Anencephaly, Spina bifida |
OMIM:206500 |
Glucagonoma |
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Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... |
ORPHA:97280 |
X-Linked Mandibulofacial Dysostosis |
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Branchial anomaly, Short stature, Webbed neck |
ORPHA:1131 |
Dyskeratosis Congenita |
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Neoplasm of the pancreas, Hepatomegaly, Splenomegaly, Lymphoma, Neoplasm, Cirrhosis, Hepatic fail... |
ORPHA:1775 |
Progressive Osseous Heteroplasia |
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Abnormality of the parathyroid gland, Sarcoma |
ORPHA:2762 |
Paraneoplastic Pemphigus |
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B-cell lymphoma, Thymoma, Sarcoma |
ORPHA:63455 |
Fryns Microphthalmia Syndrome |
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Neural tube defect |
OMIM:600776 |
Branchiootic Syndrome 1 |
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Branchial fistula |
OMIM:602588 |
Branchiogenic Deafness Syndrome |
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Branchial cyst, Branchial fistula, Short stature |
ORPHA:50815 |
Mast Cell Sarcoma |
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Splenomegaly, Hepatomegaly, Sarcoma |
ORPHA:66661 |
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
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Branchial cyst, Severe postnatal growth retardation |
ORPHA:435938 |
Large Congenital Melanocytic Nevus |
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Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma |
ORPHA:626 |
Liposarcoma |
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Sarcoma |
ORPHA:69078 |
Aprosencephaly Syndrome |
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Aprosencephaly, Anencephaly |
OMIM:207770 |
Craniorachischisis |
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Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Rhabdoid Tumor |
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Neoplasm of the central nervous system, Renal neoplasm, Neoplasm of the liver, Sarcoma |
ORPHA:69077 |
Branchiootic Syndrome |
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Branchial fistula |
ORPHA:52429 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
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Increased nuchal translucency, Intrauterine growth retardation, Branchial anomaly, Cystic hygroma |
ORPHA:453499 |
Bor Syndrome |
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Branchial cyst |
ORPHA:107 |
Gitelman Syndrome |
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Parathyroid adenoma, Neoplasm of the pancreas |
ORPHA:358 |
Branchiootorenal Syndrome 1 |
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Branchial cyst, Branchial fistula |
OMIM:113650 |
Juvenile Polyposis Syndrome |
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Neoplasm of the pancreas, Juvenile gastrointestinal polyposis, Juvenile colonic polyposis, Viscer... |
ORPHA:2929 |
Holoprosencephaly |
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Encephalocele, Short neck, Hydrocephalus, Spinal dysraphism, Branchial anomaly, Holoprosencephaly |
ORPHA:2162 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell a... |
ORPHA:99889 |
Isolated Posterior Meningocele |
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Limitation of neck motion, Meningocele, Lipomyelomeningocele, Hydrocephalus, Neural tube defect, ... |
ORPHA:268810 |
Blepharocheilodontic Syndrome 1 |
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Neural tube defect |
OMIM:119580 |
Yellow Nail Syndrome |
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Renal neoplasm, Biliary tract neoplasm, Neoplasm of the lung, Neoplasm, Sarcoma |
ORPHA:662 |
Multiple Endocrine Neoplasia, Type I |
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Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... |
OMIM:131100 |
Werner Syndrome |
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Renal neoplasm, Acral lentiginous melanoma, Breast carcinoma, Squamous cell carcinoma, Neoplasm o... |
ORPHA:902 |
Fanconi Anemia, Complementation Group E |
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Cryptorchidism, Leukemia, Prolonged G2 phase of cell cycle |
OMIM:600901 |
Distal 22Q11.2 Microdeletion Syndrome |
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Growth delay, Branchial fistula, Short stature, Intrauterine growth retardation |
ORPHA:261330 |
Multiple Endocrine Neoplasia Type 4 |
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Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary prolactin cel... |
ORPHA:276152 |
Fanconi Anemia, Complementation Group A |
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Cryptorchidism, Leukemia, Prolonged G2 phase of cell cycle |
OMIM:227650 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
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Branchial anomaly |
ORPHA:466950 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Increased nuchal translucency, Branchial anomaly, Cystic hygroma, Growth delay |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Increased nuchal translucency, Branchial anomaly, Cystic hygroma, Growth delay |
ORPHA:352665 |
Oligomeganephronia |
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Branchial cyst |
ORPHA:2260 |
Acromesomelic Dysplasia, Grebe Type |
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Sarcoma |
ORPHA:2098 |
Alg3-Cdg |
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Neural tube defect |
ORPHA:79321 |
Retinoblastoma |
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Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
Distal 22Q11.2 Microduplication Syndrome |
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Branchial fistula, Hydrocephalus, Low posterior hairline, Webbed neck |
ORPHA:261337 |
Fanconi Anemia, Complementation Group C |
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Cryptorchidism, Leukemia, Prolonged G2 phase of cell cycle |
OMIM:227645 |
Treacher-Collins Syndrome |
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Encephalocele, Branchial fistula |
ORPHA:861 |
Iniencephaly |
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Encephalocele, Rhizomelia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dys... |
ORPHA:63259 |
Fanconi Anemia, Complementation Group D2 |
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Cryptorchidism, Leukemia, Prolonged G2 phase of cell cycle, Annular pancreas |
OMIM:227646 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Branchial cyst, Natal tooth, Short stature, Intrauterine growth retardation |
OMIM:620186 |
Gastrointestinal Stromal Tumor |
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Gastrointestinal stroma tumor, Abnormality of the liver, Esophageal neoplasm, Sarcoma |
ORPHA:44890 |
Retinoblastoma |
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Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... |
ORPHA:790 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Infancy onset short-trunk short stature, Short stature, Short neck, Intrauterine ... |
ORPHA:508488 |
Sacral Defect With Anterior Meningocele |
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Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract |
OMIM:600145 |
Neurofibromatosis Type 1 |
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Astrocytoma, Cryptorchidism, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromo... |
ORPHA:636 |
Branchiooculofacial Syndrome |
|
Short neck, Postnatal growth retardation, Low posterior hairline, Branchial anomaly, Intrauterine... |
OMIM:113620 |
Monosomy 22 |
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Aplasia of the thymus, Schwannoma, Hepatosplenomegaly, Gonadal neoplasm, Meningioma, Sarcoma |
ORPHA:96123 |
Witteveen-Kolk Syndrome |
|
Growth delay, Branchial fistula, Short stature, Intrauterine growth retardation |
OMIM:613406 |
Craniofacial Microsomia 1 |
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Occipital encephalocele, Branchial anomaly, Hydrocephalus |
OMIM:164210 |
Semilobar Holoprosencephaly |
|
Growth delay, Neural tube defect, Hydrocephalus, Short stature |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Growth delay, Neural tube defect, Hydrocephalus, Short stature |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Growth delay, Neural tube defect, Hydrocephalus, Short stature |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Growth delay, Neural tube defect, Hydrocephalus, Short stature |
ORPHA:93924 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Aprosencephaly |
OMIM:601374 |
Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Umbilical hernia, Neural tube defect, Short neck |
ORPHA:798 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Elevated circu... |
OMIM:617253 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Severe short-limb dwarfism |
ORPHA:436182 |