Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Esophageal Cancer |
|
Esophageal carcinoma |
OMIM:133239 |
Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Esophageal varix, Portal hypertension |
OMIM:617068 |
Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Esophageal atresia, Tracheoesophageal fistula |
OMIM:189960 |
Barrett Esophagus |
|
Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux |
OMIM:614266 |
Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Retinitis Pigmentosa 89 |
|
Micronodular cirrhosis, Esophageal varix, Hepatosplenomegaly, Hepatic fibrosis, Intrahepatic bile... |
OMIM:618955 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis |
ORPHA:75234 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino... |
ORPHA:411696 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Malabsorp... |
ORPHA:131 |
Leiomyoma Of Vulva And Esophagus |
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Esophageal obstruction |
OMIM:150700 |
Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Esoph... |
OMIM:619463 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Port... |
ORPHA:64743 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Esophageal varix, Hepatic fibrosi... |
OMIM:617341 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Steatorrhea, Anemia |
ORPHA:75233 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Esophageal stenosis, Colitis, Bone marrow hypocellularity |
OMIM:615190 |
Dyskeratosis Congenita, Autosomal Dominant 6 |
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Pancytopenia, Esophageal stenosis, Aplastic anemia, Bone marrow hypocellularity, Oral leukoplakia |
OMIM:616553 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Esophageal varix, Hepatic fibrosis, Portal hypertension |
OMIM:616589 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
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Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... |
OMIM:278000 |
Glycogen Storage Disease Iv |
|
Cirrhosis, Esophageal varix, Portal hypertension, Hepatosplenomegaly |
OMIM:232500 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
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Hepatomegaly, Portal hypertension, Jaundice, Esophageal varix, Cholestasis, Sclerosing cholangiti... |
OMIM:619662 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Spontaneous esophageal perforation, Esophageal stricture, Abnormal esophagus morphology, Dysphagi... |
OMIM:226600 |
Martinez-Frias Syndrome |
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Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... |
OMIM:601346 |
Plummer-Vinson Syndrome |
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Tongue atrophy, Hypochromic microcytic anemia, Iron deficiency anemia, Esophageal web, Dysphagia,... |
ORPHA:54028 |
Fanconi Anemia, Complementation Group Q |
|
Anteriorly placed anus, Esophageal atresia, Biliary atresia, Bone marrow hypocellularity |
OMIM:615272 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... |
OMIM:620133 |
Bronchogenic Cyst |
|
Abnormal peritoneum morphology, Abnormal esophagus morphology, Dysphagia, Abnormal stomach morpho... |
ORPHA:2357 |
Cirrhosis, Familial |
|
Fulminant hepatitis, Jaundice, Esophageal varix, Biliary cirrhosis, Micronodular cirrhosis, Cirrh... |
OMIM:215600 |
Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Splenomegaly, Esophageal varix, Hypersplenism |
OMIM:616028 |
Caroli Syndrome |
|
Cholangiocarcinoma, Hepatomegaly, Liver abscess, Cholangitis, Portal hypertension, Hematemesis, C... |
ORPHA:480520 |
Caroli Disease |
|
Cholangiocarcinoma, Hepatomegaly, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Esophageal varix, Cholestasis, Inflammation of the larg... |
OMIM:614576 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
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Hepatomegaly, Portal hypertension, Hematemesis, Pancreatic cysts, Splenomegaly, Esophageal varix,... |
OMIM:263200 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Abnormal esophagus morphology, Gastroe... |
ORPHA:1018 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation |
OMIM:277320 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Anal fissure, Esophageal stricture, Anemia, Gastroesophageal reflux, Dysphag... |
ORPHA:89842 |
Noonan Syndrome 7 |
|
Impaired oropharyngeal swallow response, Abnormal esophagus morphology, Dysphagia |
OMIM:613706 |
Coach Syndrome 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix, Hepatic fibrosis, Cirrhosis, I... |
OMIM:216360 |
Feingold Syndrome |
|
Esophageal atresia, Abnormality of the spleen, Annular pancreas, Duodenal atresia |
ORPHA:1305 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Portal hypertension, Esophageal varix, Hepatosplenomegaly, Cirrhosis |
ORPHA:367 |
Aspergillosis |
|
Eosinophilia, Hepatitis, Abnormal esophagus morphology, Neutropenia |
ORPHA:1163 |
Methimazole Embryofetopathy |
|
Esophageal atresia, Tracheoesophageal fistula |
ORPHA:1923 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Esophageal varix, Hepatocellular a... |
ORPHA:264580 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Esophageal stricture, Leukopenia, Hepatic fibrosis, Bone marrow hy... |
OMIM:613989 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnormality of the splee... |
ORPHA:2538 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Esophageal stricture, Dysphagia |
OMIM:616029 |
Non-Syndromic Posterior Hypospadias |
|
Esophageal atresia, Anal atresia, Cleft palate |
ORPHA:95706 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperp... |
ORPHA:731 |
Coffin-Siris Syndrome 11 |
|
Esophageal atresia, High palate, Bifid uvula, Cleft soft palate |
OMIM:618779 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... |
OMIM:301068 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Portal hypertension, Congenital hepatic fibrosis, Esophageal varix, ... |
ORPHA:974 |
Senior-Boichis Syndrome |
|
Malformation of the hepatic ductal plate, Portal hypertension, Congenital hepatic fibrosis, Esoph... |
ORPHA:84081 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Esophageal stricture, Hepatic fibrosis, Bone marrow hypocellularit... |
OMIM:224230 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Esophageal stenosis, Abnormality of neutrophils, Malabsor... |
ORPHA:1775 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Esophageal varix, He... |
OMIM:615688 |
Rhombencephalosynapsis |
|
Esophageal atresia, Aganglionic megacolon, Tracheoesophageal fistula, Anal atresia |
ORPHA:59315 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Anal stenosis, Macrocytic anemia, Aga... |
OMIM:250250 |
Mirage Syndrome |
|
Thrombocytopenia, Esophageal stricture, Hypoplastic spleen, Leukopenia, Gastroesophageal reflux, ... |
OMIM:617053 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Esophageal var... |
ORPHA:309854 |
Benign Schwannoma |
|
Intestinal polyposis, Abnormality of the liver, Abnormal parotid gland morphology, Abnormal esoph... |
ORPHA:252164 |
Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Esophageal atresia, Tracheoesophageal fistula, Thrombocytopenia, Duodenal atresia |
OMIM:300514 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Esophageal stricture, Anemia, Gastrointestinal inflammation |
ORPHA:79409 |
Hereditary Hemorrhagic Telangiectasia |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Portal hypertension, Microcytic anemia, Esopha... |
ORPHA:774 |
Feingold Syndrome 1 |
|
Accessory spleen, Jejunal atresia, Asplenia, Esophageal atresia, Gastrointestinal atresia, Trache... |
OMIM:164280 |
Chromosome 17Q12 Duplication Syndrome |
|
Esophageal atresia, Cleft soft palate |
OMIM:614526 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Esophageal atresia, Tracheoesophageal fistula, Anal atresia |
OMIM:314390 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Esophageal atresia, Congenital pyloric atresia |
OMIM:226730 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Duodenal atresia |
OMIM:619227 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Esophageal stricture |
ORPHA:158673 |
Immunodeficiency 12 |
|
Esophageal stricture, Abnormal lymphocyte count |
OMIM:615468 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Hypersplenism, Microvesicular hepatic steatosis, Jaundice, Vacuolated lym... |
ORPHA:275761 |
Wilson Disease |
|
Hemolytic anemia, Hepatomegaly, Hepatocellular carcinoma, Thrombocytopenia, Atypical or prolonged... |
OMIM:277900 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Esophageal atresia, Tracheoesophageal fistula |
OMIM:619859 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Esophageal atresia, Tracheoesophageal fistula |
ORPHA:77298 |
Septo-Optic Dysplasia Spectrum |
|
Esophageal atresia, Tracheoesophageal fistula, Cleft palate |
ORPHA:3157 |
Immunodeficiency 23 |
|
Hemolytic anemia, Eosinophilia, Esophageal stricture, High palate, Neutropenia, Lymphopenia |
OMIM:615816 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Achalasia, Esophageal stenosis, Dysphagia |
OMIM:615510 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Esophageal varix, Hepato... |
ORPHA:2072 |
Fanconi Anemia, Complementation Group L |
|
Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Bone marrow hypocellularity, Anal at... |
OMIM:614083 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Intestinal malrotation, Portal hypertension, Esophageal varix, Cholestasis, Gastroe... |
OMIM:613658 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Esophageal atresia, Thrombocytopenia, Tracheoesophageal fistula, Reticulocytopenia,... |
OMIM:227646 |
Chronic Graft Versus Host Disease |
|
Pancytopenia, Esophageal stricture, Xerostomia, Abnormal esophagus morphology, Gastroesophageal r... |
ORPHA:99921 |
Apert Syndrome |
|
Esophageal atresia, Cleft palate, Narrow palate, Ectopic anus, Bifid uvula |
ORPHA:87 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Hepatomegaly, Esophageal varix, High palate |
ORPHA:394 |
Kindler Syndrome |
|
Anal stenosis, Esophageal stenosis, Oral leukoplakia, Dysphagia |
OMIM:173650 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Esophageal atresia, Cleft palate |
OMIM:610536 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Abnormality of neutrophils, Thrombocytopenia, Esophageal stricture, ... |
ORPHA:36426 |
Arima Syndrome |
|
Hepatomegaly, Esophageal varix, Hepatic fibrosis, Cirrhosis, Hepatic steatosis, Anemia |
OMIM:243910 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Esophageal diverticulum, Hamartoma of tongue, Cleft palate, Anal atresia |
OMIM:617925 |
Fryns Syndrome |
|
Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Esophageal atresia, Cle... |
OMIM:229850 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Intestinal malrotation, Asplenia, Esophageal atresia, Pulmonary lymphangiectasia, Tracheoesophage... |
OMIM:265380 |
Feingold Syndrome Type 1 |
|
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia |
ORPHA:391641 |
Kindler Epidermolysis Bullosa |
|
Esophageal stricture, Inflammation of the large intestine, Colitis, Esophagitis, Dysphagia, Anemi... |
ORPHA:2908 |
Apert Syndrome |
|
Pyloric stenosis, Esophageal atresia, Narrow palate, Cleft palate, Ectopic anus, Bifid uvula |
OMIM:101200 |
Vacterl With Hydrocephalus |
|
Esophageal atresia, Tracheoesophageal fistula, Anal atresia |
ORPHA:3412 |
Trisomy 18 |
|
Esophageal atresia, Narrow palate, Anal atresia, Cleft palate |
ORPHA:3380 |
Distal Deletion 12Q |
|
High, narrow palate, Esophageal atresia, Pyloric stenosis, Biliary atresia, Annular pancreas, Mic... |
ORPHA:96149 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Esophageal stricture, Anal mucosal leukop... |
OMIM:305000 |
Van Esch-O'Driscoll Syndrome |
|
Esophageal atresia, Tracheoesophageal fistula, Bifid uvula |
OMIM:301030 |
Maternal Phenylketonuria |
|
Esophageal atresia, High palate |
ORPHA:2209 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hemolytic anemia, Cleft soft palate, Portal hypertension, Esophageal varix, Cholestasis, Hepatosp... |
OMIM:619503 |
Congenital Tracheomalacia |
|
Esophageal atresia, Gastroesophageal reflux, Tracheoesophageal fistula |
ORPHA:95430 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatomegaly, Portal hypertension, Congenital hepatic fibrosis, Jaundice, Splenomegaly, Esophagea... |
OMIM:619534 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Anal fissure, Gastrointestinal inflammation, Iron deficiency anemia, Gastroesophageal reflux, Dys... |
ORPHA:79408 |
Microphthalmia, Syndromic 3 |
|
Esophageal atresia |
OMIM:206900 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Esophageal stricture, Anemia, Gastrointestinal inflammation |
ORPHA:79404 |
Charge Syndrome |
|
Anal stenosis, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Dysphagia, Lymphopeni... |
OMIM:214800 |
Progeroid Short Stature With Pigmented Nevi |
|
Esophageal ulceration |
OMIM:176690 |
Gabriele-De Vries Syndrome |
|
Esophageal atresia, High palate, Oral-pharyngeal dysphagia |
ORPHA:506358 |
Vater/Vacterl Association |
|
Esophageal atresia, Tracheoesophageal fistula, Anal atresia |
OMIM:192350 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Esophageal atresia, Congenital hepatic fibrosis, Ectopic anus, Bifid tongue, Anal atresia |
ORPHA:93271 |
Alström Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix, Hepatitis, Hepatosplenomegaly,... |
ORPHA:64 |