Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
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Megaloblastic anemia, Absence of intrinsic factor |
OMIM:243320 |
Polyposis of gastric fundus without polyposis coli |
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Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Chronic Intestinal Pseudoobstruction |
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Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho... |
ORPHA:2978 |
Pyloric Atresia |
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Congenital pyloric atresia |
OMIM:265950 |
Portal Hypertension, Noncirrhotic, 1 |
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Splenomegaly, Hepatomegaly, Esophageal varix |
OMIM:617068 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
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Neonatal death, Flexion contracture, Congenital pyloric atresia |
OMIM:612138 |
Visceral Myopathy 2 |
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Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
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Neonatal death, Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
Oculogastrointestinal Muscular Dystrophy |
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Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Skeletal muscle at... |
ORPHA:1876 |
Serrated Polyposis Syndrome |
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Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... |
ORPHA:157798 |
Tracheoesophageal Fistula With Or Without Esophageal Atresia |
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Esophageal atresia, Tracheoesophageal fistula |
OMIM:189960 |
Barrett Esophagus |
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Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux |
OMIM:614266 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
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Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino... |
ORPHA:411696 |
Intrinsic Factor Deficiency |
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Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
Alpha-1-Antitrypsin Deficiency |
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Splenomegaly, Gastric varix, Hepatocellular carcinoma |
OMIM:613490 |
Cholesteryl Ester Storage Disease |
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Splenomegaly, Hepatomegaly, Esophageal varix |
ORPHA:75234 |
Wolman Disease |
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Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Steatorrhea, Anemia |
ORPHA:75233 |
Retinitis Pigmentosa 89 |
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Esophageal varix, Hepatosplenomegaly |
OMIM:618955 |
Nk-Cell Enteropathy |
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Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... |
ORPHA:263665 |
Dyskeratosis Congenita, Autosomal Dominant 6 |
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Pancytopenia, Esophageal stenosis, Aplastic anemia, Bone marrow hypocellularity, Oral leukoplakia |
OMIM:616553 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
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Leukopenia, Esophageal stenosis, Colitis, Bone marrow hypocellularity |
OMIM:615190 |
Portal Hypertension, Noncirrhotic, 2 |
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Hepatomegaly, Splenomegaly, Esophageal varix, Hepatocellular carcinoma, Thrombocytopenia |
OMIM:619463 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
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Gastrointestinal hemorrhage, Pancytopenia, Esophageal varix, Bone marrow hypocellularity, Abnorma... |
OMIM:617341 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
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Spontaneous esophageal perforation, Esophageal stricture, Flexion contracture, Abnormal esophagus... |
OMIM:226600 |
Syndromic Recessive X-Linked Ichthyosis |
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Cryptorchidism, Testicular seminoma, Acute leukemia, Abnormal stomach morphology |
ORPHA:281090 |
Glycogen Storage Disease Iv |
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Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Esophageal varix, Hepatosplenomegaly |
OMIM:232500 |
Bronchogenic Cyst |
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Abnormal esophagus morphology, Abnormality of the diaphragm, Dysphagia, Abnormal stomach morphology |
ORPHA:2357 |
Budd-Chiari Syndrome |
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Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Malabsorption, Splenomegaly, E... |
ORPHA:131 |
Non-Syndromic Posterior Hypospadias |
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Congenital diaphragmatic hernia, Esophageal atresia, Cryptorchidism, Cleft palate, Anal atresia |
ORPHA:95706 |
Hepatoportal Sclerosis |
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Gastrointestinal hemorrhage, Hypersplenism, Splenomegaly, Thrombocytopenia, Esophageal varix, Leu... |
ORPHA:64743 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
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Hepatomegaly, Skeletal muscle atrophy, Flexion contracture, Esophageal varix, Abnormal muscle gly... |
ORPHA:367 |
Plummer-Vinson Syndrome |
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Tongue atrophy, Hypochromic microcytic anemia, Iron deficiency anemia, Esophageal web, Dysphagia,... |
ORPHA:54028 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
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Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... |
OMIM:620133 |
Adams-Oliver Syndrome 6 |
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Splenomegaly, Esophageal varix |
OMIM:616589 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
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Skeletal muscle atrophy, Esophageal stenosis, Anal fissure, Esophageal stricture, Flexion contrac... |
ORPHA:89842 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
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Iron deficiency anemia, Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
Fanconi Anemia, Complementation Group Q |
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Anteriorly placed anus, Esophageal atresia, Bone marrow hypocellularity |
OMIM:615272 |
Cholesteryl Ester Storage Disease |
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Hepatomegaly, Bone-marrow foam cells, Hypersplenism, Splenomegaly, Thrombocytopenia, Esophageal v... |
OMIM:278000 |
Microgastria-Limb Reduction Defect Syndrome |
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Hepatomegaly, Congenital muscular torticollis, Intestinal malrotation, Hiatus hernia, Esophageal ... |
ORPHA:2538 |
Adams-Oliver Syndrome 5 |
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Hypersplenism, Splenomegaly, Esophageal varix, Right ventricular hypertrophy |
OMIM:616028 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
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Spontaneous esophageal perforation |
OMIM:277320 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
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Hepatomegaly, Hematemesis, Splenomegaly, Pancreatic cysts, Esophageal varix, Neonatal death, Enla... |
OMIM:263200 |
Congenital Disorder Of Glycosylation, Type Iil |
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Hepatomegaly, Pancytopenia, Splenomegaly, Esophageal varix, Inflammation of the large intestine, ... |
OMIM:614576 |
Noonan Syndrome 7 |
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Impaired oropharyngeal swallow response, Abnormal esophagus morphology, Dysphagia |
OMIM:613706 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
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Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Abnormal esophagus morphology, Gastroe... |
ORPHA:1018 |
Systemic Sclerosis |
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Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
Aspergillosis |
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Eosinophilia, Abnormal esophagus morphology, Neutropenia |
ORPHA:1163 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Hepatomegaly, Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Abnormal erythrocyte enzy... |
ORPHA:264580 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
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Hepatomegaly, Bile duct proliferation, Esophageal varix |
OMIM:619662 |
Coach Syndrome 1 |
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Splenomegaly, Hepatomegaly, Esophageal varix |
OMIM:216360 |
Benign Schwannoma |
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Intestinal polyposis, Abnormal parotid gland morphology, Facial palsy, Abnormal esophagus morphology |
ORPHA:252164 |
Dyskeratosis Congenita |
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Neoplasm of the pancreas, Hepatomegaly, Esophageal stenosis, Abnormality of neutrophils, Malabsor... |
ORPHA:1775 |
Adams-Oliver Syndrome |
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Gastrointestinal hemorrhage, Leukopenia, Esophageal varix, Thrombocytopenia |
ORPHA:974 |
Congenital Tracheal Stenosis |
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Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... |
ORPHA:141127 |
Metachromatic Leukodystrophy |
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Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladder morphology, Abnorm... |
ORPHA:512 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Hepatomegaly, Pancytopenia, Splenomegaly, Leukocytosis, Esophageal varix, Hepatosplenomegaly, Lym... |
OMIM:615688 |
Cirrhosis, Familial |
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Esophageal varix |
OMIM:215600 |
Caroli Syndrome |
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Cholangiocarcinoma, Hepatomegaly, Hematemesis, Hypersplenism, Leukocytosis, Esophageal varix, Mel... |
ORPHA:480520 |
Caroli Disease |
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Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Leukocytosis, Esophageal varix, Cholelithiasis |
ORPHA:53035 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Hepatomegaly, Splenomegaly, Esophageal varix, Polycythemia, Hypomimic face |
ORPHA:309854 |
Wilson Disease |
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Hypoparathyroidism, Hepatomegaly, Hemolytic anemia, Hepatocellular carcinoma, Splenomegaly, Throm... |
OMIM:277900 |
Hardikar Syndrome |
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Hepatomegaly, Cleft soft palate, Intestinal malrotation, Celiac disease, Hematemesis, Splenomegal... |
OMIM:301068 |
Hereditary Hemorrhagic Telangiectasia |
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Intestinal polyposis, Gastrointestinal hemorrhage, Microcytic anemia, Esophageal varix, Cholelith... |
ORPHA:774 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Absent gallbladder, Esophageal diverticulum, Hamartoma of tongue, Cleft palate, Neonatal death, A... |
OMIM:617925 |
Autosomal Recessive Polycystic Kidney Disease |
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Gastrointestinal hemorrhage, Cholangiocarcinoma, Biliary hyperplasia, Splenomegaly, Hypersplenism... |
ORPHA:731 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
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Achalasia, Esophageal stenosis, Dysphagia |
OMIM:615510 |
Chronic Graft Versus Host Disease |
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Pancytopenia, Esophageal stricture, Flexion contracture, Xerostomia, Abnormal esophagus morpholog... |
ORPHA:99921 |
Lysosomal Acid Lipase Deficiency |
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Bone-marrow foam cells, Hypersplenism, Vacuolated lymphocytes, Esophageal varix, Hepatosplenomega... |
ORPHA:275761 |
Kindler Syndrome |
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Anal stenosis, Esophageal stenosis, Oral leukoplakia, Dysphagia |
OMIM:173650 |
Classic Homocystinuria |
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Gastrointestinal hemorrhage, Hepatomegaly, Esophageal varix, High palate |
ORPHA:394 |
Senior-Boichis Syndrome |
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Esophageal varix, Anemia, Hepatosplenomegaly |
ORPHA:84081 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia, Esophageal varix, Hepato... |
ORPHA:2072 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Pancytopenia, Intestinal malrotation, Esophageal varix, Gastroesophageal reflux, High palate, Bil... |
OMIM:613658 |
Arima Syndrome |
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Hepatomegaly, Esophageal varix, Anemia |
OMIM:243910 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Hemolytic anemia, Hip contracture, Cleft soft palate, Decreased response to growth hormone stimul... |
OMIM:619503 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Hepatomegaly, Anterior pituitary hypoplasia, Splenomegaly, Esophageal varix, Gastroesophageal ref... |
OMIM:619534 |
Alström Syndrome |
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Hepatomegaly, Decreased response to growth hormone stimulation test, Testicular fibrosis, Splenom... |
ORPHA:64 |