Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Lymphoma, Mucosa-Associated Lymphoid Type |
|
Gastric lymphoma |
OMIM:137245 |
Li-Fraumeni Syndrome 2 |
|
Glioma, Meningioma, Breast carcinoma, Stomach cancer, Sarcoma |
OMIM:609265 |
Gastric Cancer |
|
Stomach cancer |
OMIM:613659 |
Polyposis of gastric fundus without polyposis coli |
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Multiple gastric polyps, Abnormal gastric mucosa morphology |
OMIM:175505 |
Serrated Polyposis Syndrome |
|
Melanoma, Prostate cancer, Biliary tract neoplasm, Colorectal polyposis, Breast carcinoma, Bladde... |
ORPHA:157798 |
Colorectal Cancer |
|
Renal cell carcinoma, Neoplasm of the stomach, Uterine leiomyosarcoma, Hereditary nonpolyposis co... |
OMIM:114500 |
Pyloric Atresia |
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Congenital pyloric atresia |
OMIM:265950 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
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Absence of intrinsic factor |
OMIM:243320 |
Melanoma-Pancreatic Cancer Syndrome |
|
Melanoma, Pancreatic squamous cell carcinoma, Oropharyngeal squamous cell carcinoma, Pancreatic a... |
OMIM:606719 |
Reticulum Cell Sarcoma |
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Neoplasm, Sarcoma |
OMIM:267730 |
Gist-Plus Syndrome |
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Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Ewing Sarcoma |
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Ewing sarcoma |
OMIM:612219 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
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Gastric adenocarcinoma, Melena, Fundic gland polyposis |
OMIM:619182 |
Familial Adenomatous Polyposis 1 |
|
Carcinoma, Adrenocortical adenoma, Colon cancer, Small intestine carcinoid, Multiple gastric poly... |
OMIM:175100 |
Li-Fraumeni Syndrome |
|
Choriocarcinoma, Colon cancer, Neoplasm of the pancreas, Prostate cancer, Breast carcinoma, Osteo... |
OMIM:151623 |
Chronic Intestinal Pseudoobstruction |
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Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis |
ORPHA:2978 |
Muir-Torre Syndrome |
|
Adenoma sebaceum, Renal neoplasm, Malignant genitourinary tract tumor, Neoplasm of the liver, Col... |
ORPHA:587 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate |
OMIM:137215 |
Nut Midline Carcinoma |
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Neoplasm, Ewing sarcoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cel... |
ORPHA:443167 |
Cheilitis Glandularis |
|
Squamous cell carcinoma, Neoplasm, Abnormal salivary gland morphology |
ORPHA:1221 |
Gastrointestinal Stromal Tumor |
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Neoplasm of the rectum, Intestinal obstruction, Neoplasm of the stomach, Dysphagia, Gastrointesti... |
ORPHA:44890 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
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Bladder neoplasm, Neoplasm of the rectum, Endometrial carcinoma, Colon cancer, Seborrheic keratos... |
ORPHA:454840 |
Alveolar Soft Part Sarcoma |
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Alveolar soft part sarcoma |
OMIM:606243 |
Sarcoma, Synovial |
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Synovial sarcoma |
OMIM:300813 |
Gastrointestinal Stromal Tumor |
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Dysphagia, Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibroma |
OMIM:606764 |
Li-Fraumeni Syndrome |
|
Colorectal polyposis, Acute lymphoblastic leukemia, Astrocytoma, Neoplasm of the central nervous ... |
ORPHA:524 |
Attenuated Familial Adenomatous Polyposis |
|
Papilloma, Colorectal polyposis, Duodenal polyposis, Large intestinal polyposis, Neoplasm of the ... |
ORPHA:220460 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
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Squamous cell carcinoma, Verrucae, Basal cell carcinoma |
OMIM:618267 |
Squamous Cell Carcinoma, Head And Neck |
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Squamous cell carcinoma |
OMIM:275355 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
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Neoplasm of the rectum, Papilloma, Colon cancer, Juvenile gastrointestinal polyposis, Multiple ga... |
ORPHA:480536 |
Muir-Torre Syndrome |
|
Benign gastrointestinal tract tumors, Benign genitourinary tract neoplasm, Adenoma sebaceum, Mali... |
OMIM:158320 |
Familial Adenomatous Polyposis 3 |
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Bladder neoplasm, Colon cancer, Meningioma, Prostate cancer, Breast carcinoma, Pancreatic adenoca... |
OMIM:616415 |
Carney-Stratakis Syndrome |
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Intestinal obstruction, Dysphagia, Gastrointestinal stroma tumor, Gastrointestinal hemorrhage, Pa... |
ORPHA:97286 |
Familial Melanoma |
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Neoplasm of the pancreas, Melanoma, Neoplasm of the breast, Neoplasm of the stomach |
ORPHA:618 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
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Adrenocortical adenoma, Astrocytoma, Pilomatrixoma, Papillary thyroid carcinoma, Odontoma, Adenom... |
ORPHA:247806 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
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Pyloric stenosis |
OMIM:179010 |
Disseminated Superficial Actinic Porokeratosis |
|
Squamous cell carcinoma |
ORPHA:79152 |
Nk-Cell Enteropathy |
|
Lymphoproliferative disorder, Gastric ulcer, Intestinal polyp, Gastroesophageal reflux, Hematoche... |
ORPHA:263665 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Renal cell carcinoma, Melanoma, Adenocarcinoma of the small intestine, Brain neoplasm, Breast car... |
ORPHA:79501 |
Maffucci Syndrome |
|
Neoplasm of the parathyroid gland, Neoplasm of the adrenal cortex, Hemangiomatosis, Breast carcin... |
ORPHA:163634 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatocellular carcinoma, Gastric varix |
OMIM:613490 |
Infantile Myofibromatosis |
|
Abnormal intestine morphology, Neoplasm of the pancreas, Intestinal obstruction, Neoplasm of the ... |
ORPHA:2591 |
Syndromic Recessive X-Linked Ichthyosis |
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Abnormal stomach morphology, Testicular seminoma, Acute leukemia |
ORPHA:281090 |
Hereditary Mixed Polyposis Syndrome |
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Neoplasm of the rectum, Hyperplastic colonic polyposis, Hematochezia, Juvenile colonic polyposis,... |
ORPHA:157794 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
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Congenital pyloric atresia |
OMIM:612138 |
Polymerase Proofreading-Related Adenomatous Polyposis |
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Neoplasm of the rectum, Brain neoplasm, Colorectal polyposis, Breast carcinoma, Adenomatous colon... |
ORPHA:447877 |
Esophageal Ring, Lower |
|
Dysphagia, Hiatus hernia |
OMIM:133240 |
Familial Adenomatous Polyposis 4 |
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Gastric adenocarcinoma, Astrocytoma, Duodenal polyposis, Uterine leiomyoma, Adenomatous colonic p... |
OMIM:617100 |
Multiple Endocrine Neoplasia, Type Iv |
|
Carcinoma, Pancreatic endocrine tumor, Renal angiomyolipoma, Carcinoid tumor, Pituitary adenoma, ... |
OMIM:610755 |
Cowden Syndrome 1 |
|
High palate, Carcinoma, Meningioma, Breast carcinoma, Ovarian carcinoma, Hamartomatous polyposis,... |
OMIM:158350 |
Paragangliomas 4 |
|
Renal cell carcinoma, Glomus jugular tumor, Adrenal pheochromocytoma, Chemodectoma, Extraadrenal ... |
OMIM:115310 |
Gardner Syndrome |
|
Adrenocortical adenoma, Astrocytoma, Pilomatrixoma, Papillary thyroid carcinoma, Odontoma, Adenom... |
ORPHA:79665 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Congenital pyloric atresia, Esophageal stenosis |
OMIM:619817 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Hepatocellular carcinoma, Burkitt lymphoma, Colon cancer, T-cell lymphoma, Acute lymphoblastic le... |
ORPHA:158057 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Malabsorption, Spontaneous esophageal perforation, Int... |
ORPHA:1876 |
Juvenile Polyposis Syndrome |
|
Hematochezia, Colon cancer, Multiple gastric polyps, Neoplasm of the stomach, Intussusception, Re... |
OMIM:174900 |
Ménétrier Disease |
|
Gastroesophageal reflux, Multiple gastric polyps, Helicobacter pylori infection, Stomach cancer, ... |
ORPHA:2494 |
Hyperkeratosis Lenticularis Perstans |
|
Squamous cell carcinoma, Basal cell carcinoma |
ORPHA:409 |
Sucrosuria, Hiatus Hernia, And Impaired Intellectual Development |
|
Hiatus hernia |
OMIM:272000 |
Intrinsic Factor Deficiency |
|
Absence of intrinsic factor |
OMIM:261000 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Squamous cell carcinoma |
OMIM:613736 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Squamous cell carcinoma, Carcinoma |
OMIM:615225 |
Junctional Epidermolysis Bullosa Inversa |
|
Gastrointestinal inflammation, Squamous cell carcinoma, Cutaneous melanoma, Basal cell carcinoma |
ORPHA:79405 |
Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis |
ORPHA:664 |
Oncogenic Osteomalacia |
|
Giant cell tumor of bone, Carcinoma, Neoplasm of head and neck, Osteosarcoma, Neurofibroma, Neopl... |
ORPHA:352540 |
Paraneoplastic Pemphigus |
|
Thymoma, B-cell lymphoma, Sarcoma |
ORPHA:63455 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Squamous cell carcinoma, Verrucae, Anal canal squamous carcinoma, Squamous cell carcinoma of the ... |
ORPHA:217390 |
Familial Adenomatous Polyposis |
|
Adenocarcinoma of the small intestine, Colorectal polyposis, Astrocytoma, Papillary thyroid carci... |
ORPHA:733 |
Xeroderma Pigmentosum Variant |
|
Squamous cell carcinoma, Melanoma, Basal cell carcinoma |
ORPHA:90342 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Gastrointestinal inflammation, Squamous cell carcinoma, Cutaneous melanoma, Basal cell carcinoma |
ORPHA:79406 |
Desmoplastic Small Round Cell Tumor |
|
Ileus, Neoplasm of the pancreas, Neoplasm of the lung, Ovarian neoplasm, Neoplasm of the central ... |
ORPHA:83469 |
Schöpf-Schulz-Passarge Syndrome |
|
Ovarian neoplasm, Squamous cell carcinoma, Basal cell carcinoma |
ORPHA:50944 |
Carney Triad |
|
Adrenocortical adenoma, Pheochromocytoma, Gastrointestinal stroma tumor, Gastrointestinal hemorrh... |
ORPHA:139411 |
Bronchogenic Cyst |
|
Dysphagia, Abnormal esophagus morphology, Abnormal stomach morphology |
ORPHA:2357 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Gastrointestinal inflammation, Cutaneous melanoma, Esophageal stricture, Basal cell carcinoma, Sq... |
ORPHA:79409 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Squamous cell carcinoma, Esophageal stricture, Dysphagia, Abnormal esophagus morphology, Spontane... |
OMIM:226600 |
Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology |
ORPHA:234 |
Aicardi Syndrome |
|
Hemangioma, Carcinoma, Metastatic angiosarcoma, Hiatus hernia, Hepatoblastoma, Cleft palate, Lipo... |
OMIM:304050 |
Dyskeratosis Congenita, X-Linked |
|
Oral leukoplakia, Carcinoma, Anal mucosal leukoplakia, Esophageal stricture, Myelodysplasia, Orop... |
OMIM:305000 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Carcinoma, Laryngeal carcinoma |
OMIM:610644 |
Hepatoportal Sclerosis |
|
Gastric varix, Gastrointestinal hemorrhage, Esophageal varix, Hepatocellular carcinoma |
ORPHA:64743 |
Scleroderma |
|
Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Abnormal small intestine morp... |
ORPHA:801 |
Retinoblastoma |
|
Lymphoma, Pinealoma, Ewing sarcoma, Leukemia, Cleft palate, Osteosarcoma, Retinoblastoma |
OMIM:180200 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Abnormal small intestine morp... |
ORPHA:90291 |
Common Variable Immunodeficiency |
|
Gastrointestinal stroma tumor, Anal atresia, Lymphoma |
ORPHA:1572 |
Epidermodysplasia Verruciformis |
|
Squamous cell carcinoma, Verrucae |
ORPHA:302 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Congenital pyloric atresia, Esophageal atresia |
OMIM:226730 |
Microgastria-Limb Reduction Defect Syndrome |
|
Esophageal atresia, Anal atresia, Gastroesophageal reflux, Intestinal malrotation, Rectal atresia... |
ORPHA:2538 |
Congenital Tracheal Stenosis |
|
Anal atresia, Duodenal atresia, Abnormal stomach morphology, Morphological abnormality of the gas... |
ORPHA:141127 |
Metachromatic Leukodystrophy |
|
Neoplasm of the gallbladder, Intussusception, Abnormal stomach morphology, Abnormal duodenum morp... |
ORPHA:512 |
Xeroderma Pigmentosum, Variant Type |
|
Squamous cell carcinoma, Cutaneous melanoma, Basal cell carcinoma |
OMIM:278750 |
17Q11 Microdeletion Syndrome |
|
Optic nerve glioma, Cerebellar glioma, Glioma, Brain neoplasm, Glomus jugular tumor, Multiple muc... |
ORPHA:97685 |
Dermatomyositis |
|
Neoplasm, Breast carcinoma, Gastrointestinal stroma tumor, Lymphoma, Lung adenocarcinoma |
ORPHA:221 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric ulcer, Gastric hypertrophy |
OMIM:161700 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Congenital pyloric atresia, Intestinal atresia |
ORPHA:79403 |
Hardikar Syndrome |
|
Bilateral cleft lip and palate, Unilateral cleft palate, Celiac disease, Esophageal varix, Hemate... |
OMIM:301068 |
Viss Syndrome |
|
Macroglossia, High palate, Gastroesophageal reflux, Broad uvula, Bifid uvula, Duodenitis, High, n... |
OMIM:619472 |