| Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
| Esophageal Cancer |
|
Esophageal carcinoma |
OMIM:133239 |
| High-Grade Dysplasia In Patients With Barrett Esophagus |
|
Barrett esophagus, Gastroesophageal reflux, Dysphagia, Esophageal obstruction |
ORPHA:231080 |
| Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix |
OMIM:617068 |
| Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Tracheoesophageal fistula, Esophageal atresia |
OMIM:189960 |
| Barrett Esophagus |
|
Barrett esophagus, Gastroesophageal reflux, Esophageal carcinoma, Esophageal ulceration |
OMIM:614266 |
| Adenocarcinoma Of The Esophagus |
|
Barrett esophagus, Gastroesophageal reflux, Lymphadenopathy, Esophageal carcinoma |
ORPHA:99976 |
| Gastroesophageal Reflux |
|
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm |
OMIM:109350 |
| Visceral Myopathy 2 |
|
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... |
OMIM:619350 |
| Retinitis Pigmentosa 89 |
|
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, ... |
OMIM:618955 |
| Cholesteryl Ester Storage Disease |
|
Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice, Esophageal varix |
ORPHA:75234 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Gastroesophageal reflux, Eosinophilic microabscess formation in the esophagus, Esophagitis, Abnor... |
ORPHA:411696 |
| Leiomyoma Of Vulva And Esophagus |
|
Esophageal obstruction |
OMIM:150700 |
| Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Portal hypertension, Splenomegaly, Thrombocytopenia, H... |
OMIM:619463 |
| Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul... |
ORPHA:64743 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Gastrointestinal infarctions, Portal hypertension, Splenomegaly, Cho... |
ORPHA:131 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Abnormally low T cell receptor excision circle level, Hepatic fibrosis, Bone marrow hypocellulari... |
OMIM:617341 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension... |
OMIM:620367 |
| Wolman Disease |
|
Splenomegaly, Anemia, Hepatomegaly, Bone-marrow foam cells, Esophageal varix, Steatorrhea |
ORPHA:75233 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Leukopenia, Colitis, Esophageal stenosis |
OMIM:615190 |
| Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Bone marrow hypocellularity, Aplastic anemia, Oral leukoplakia, Pancytopenia, Esophageal stenosis |
OMIM:616553 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Congenital pyloric atresia, Esophageal stenosis |
OMIM:619817 |
| Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Portal hypertension, Splenomegaly, Esophageal varix |
OMIM:616589 |
| Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... |
OMIM:278000 |
| Oculogastrointestinal Muscular Dystrophy |
|
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... |
ORPHA:1876 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Esophageal stricture, Abnormal esophagus morphology, Anemia, Dysphagia, Spontaneous esophageal pe... |
OMIM:226600 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Portal hypertension, Sclerosing cholang... |
OMIM:619662 |
| Fanconi Anemia, Complementation Group Q |
|
Bone marrow hypocellularity, Esophageal atresia, Anteriorly placed anus, Biliary atresia |
OMIM:615272 |
| Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Esophageal web, Dysphagia, Hypochromic microcytic anemia, Glossitis, Tong... |
ORPHA:54028 |
| Bronchogenic Cyst |
|
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia, Abnormal peritoneum morpho... |
ORPHA:2357 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti... |
OMIM:620133 |
| Glycogen Storage Disease Iv |
|
Hepatosplenomegaly, Cirrhosis, Portal hypertension, Esophageal varix |
OMIM:232500 |
| Cirrhosis, Familial |
|
Biliary cirrhosis, Micronodular cirrhosis, Cirrhosis, Jaundice, Fulminant hepatitis, Esophageal v... |
OMIM:215600 |
| Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Hypersplenism, Splenomegaly, Esophageal varix |
OMIM:616028 |
| Caroli Disease |
|
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Leuko... |
ORPHA:53035 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Duodenal ulcer, Iron deficiency anemia, Gastric ulcer, Esophageal ulceration |
OMIM:618372 |
| Caroli Syndrome |
|
Intrahepatic cholestasis, Melena, Hypersplenism, Leukopenia, Leukocytosis, Portal hypertension, C... |
ORPHA:480520 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Neoplasm of the colon, Abnormality of the liver, Intestinal obstruct... |
ORPHA:44890 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Cholestasis, Pancytopenia, Splenomegaly, Cirrhosis, Thromboc... |
OMIM:614576 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Esophageal neoplasm, Abnorma... |
ORPHA:1018 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Hemateme... |
OMIM:263200 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Gastroesophageal reflux, Anal fissure, Esophageal stricture, Ankyloglossia, Abnormal esophagus mo... |
ORPHA:89842 |
| Aspergillosis |
|
Abnormal esophagus morphology, Eosinophilia, Hepatitis, Neutropenia |
ORPHA:1163 |
| Benign Schwannoma |
|
Abnormal esophagus morphology, Abnormality of the liver, Intestinal polyposis, Abnormal parotid g... |
ORPHA:252164 |
| Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation |
OMIM:277320 |
| Coach Syndrome 1 |
|
Hepatic fibrosis, Intrahepatic bile duct dilatation, Portal hypertension, Splenomegaly, Cirrhosis... |
OMIM:216360 |
| Noonan Syndrome 7 |
|
Abnormal esophagus morphology, Dysphagia, Impaired oropharyngeal swallow response |
OMIM:613706 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Colonic diverticula, Gastroesophageal reflux, Increased hepatic echogenicity, Gastric ulcer, Esop... |
OMIM:147060 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatosplenomegaly, Portal hypertension, Cirrhosis, Hepatomegaly, Esophageal varix |
ORPHA:367 |
| Feingold Syndrome |
|
Esophageal atresia, Abnormality of the spleen, Annular pancreas, Duodenal atresia |
ORPHA:1305 |
| Methimazole Embryofetopathy |
|
Tracheoesophageal fistula, Esophageal atresia |
ORPHA:1923 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Cholestasis, Hepatic steatosis, Splenomegaly, Anemia, Cirrhosi... |
ORPHA:264580 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Dysphagia, Esophageal stricture |
OMIM:616029 |
| Systemic Sclerosis |
|
Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... |
ORPHA:90291 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Anemia, Gastrointestinal inflammation, Esophageal stricture |
ORPHA:79409 |
| Primary Biliary Cholangitis |
|
Hepatic fibrosis, Biliary cirrhosis, Hepatitis, Celiac disease, Steatorrhea, Portal hypertension,... |
ORPHA:186 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Microgastria, Gastroesophageal reflux, Intestinal malrotation, Abnormality of the spleen, Esophag... |
ORPHA:2538 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Oral leukoplakia, Pancytopenia, L... |
OMIM:613989 |
| Coffin-Siris Syndrome 11 |
|
Bifid uvula, High palate, Cleft soft palate, Esophageal atresia |
OMIM:618779 |
| Non-Syndromic Posterior Hypospadias |
|
Anal atresia, Esophageal atresia, Cleft palate |
ORPHA:95706 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hepatic fibrosis, Periportal fibrosis, Gastrointestinal hemorrhage, Protein-losing enteropathy, C... |
ORPHA:731 |
| Hardikar Syndrome |
|
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Bilateral... |
OMIM:301068 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Leukopenia, Portal hypertension, Congenital hepatic fibrosis, Cirrho... |
ORPHA:974 |
| Senior-Boichis Syndrome |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatosplenomegaly, Port... |
ORPHA:84081 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Bone marrow hypocellularity, Hepatic fibrosis, Aplastic anemia, Oral leukoplakia, Pancytopenia, T... |
OMIM:224230 |
| Mirage Syndrome |
|
Gastroesophageal reflux, Lymphopenia, Leukopenia, Achalasia, Thrombocytopenia, Anemia, Hypoplasti... |
OMIM:617053 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Bone marrow hypocellularity, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocyto... |
OMIM:615688 |
| Rhombencephalosynapsis |
|
Aganglionic megacolon, Anal atresia, Tracheoesophageal fistula, Esophageal atresia |
ORPHA:59315 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Polycythemia, Micronodular cirrhosis, Abnormality of the liver, Portal hypertension, Splenomegaly... |
ORPHA:309854 |
| Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Tracheoesophageal fistula, Esophageal atresia, Thrombocytopenia, Duodenal atresia |
OMIM:300514 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Congenital pyloric atresia, Esophageal atresia |
OMIM:226730 |
| Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Esophageal atresia |
OMIM:614526 |
| Dyskeratosis Congenita |
|
Bone marrow hypocellularity, Oral leukoplakia, Anorectal anomaly, Splenomegaly, Anemia, Cirrhosis... |
ORPHA:1775 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Bone marrow hypocellularity, Gastrointestinal hemorrhage, Aplastic anemia, Oral leukoplakia, Panc... |
OMIM:613990 |
| Feingold Syndrome 1 |
|
Accessory spleen, Annular pancreas, Polysplenia, Jejunal atresia, Tracheoesophageal fistula, Esop... |
OMIM:164280 |
| Cartilage-Hair Hypoplasia |
|
Anal stenosis, Lymphopenia, Macrocytic anemia, Aganglionic megacolon, Esophageal atresia, Impaire... |
OMIM:250250 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Anal atresia, Tracheoesophageal fistula, Esophageal atresia |
OMIM:314390 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Esophageal stricture |
ORPHA:158673 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Tracheoesophageal fistula, Esophageal atresia, Duodenal atresia, Submucous cleft hard palate |
OMIM:619227 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatic fibrosis, Hepatosplenomegaly, Hypersplenism, Microvesicular hepatic steatosis, Vacuolated... |
ORPHA:275761 |
| Immunodeficiency 12 |
|
Abnormal lymphocyte count, Esophageal stricture |
OMIM:615468 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Tracheoesophageal fistula, Esophageal atresia |
OMIM:619859 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Tracheoesophageal fistula, Esophageal atresia |
ORPHA:77298 |
| Immunodeficiency 23 |
|
Lymphopenia, Eosinophilia, Neutropenia, High palate, Hemolytic anemia, Esophageal stricture |
OMIM:615816 |
| Septo-Optic Dysplasia Spectrum |
|
Tracheoesophageal fistula, Esophageal atresia, Cleft palate |
ORPHA:3157 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Achalasia, Dysphagia, Esophageal stenosis |
OMIM:615510 |
| Wilson Disease |
|
Portal fibrosis, Hepatic steatosis, Splenomegaly, Anemia, Cirrhosis, Atypical or prolonged hepati... |
OMIM:277900 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hepatic fibrosis, Cholelithiasis, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Sp... |
ORPHA:2072 |
| Chronic Graft Versus Host Disease |
|
Gastroesophageal reflux, Xerostomia, Pancytopenia, Abnormal esophagus physiology, Abnormal esopha... |
ORPHA:99921 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Gastroesophageal reflux, Cholestasis, Intestinal malrotation, Pancytopenia, Portal hypertension, ... |
OMIM:613658 |
| Fanconi Anemia, Complementation Group L |
|
Bone marrow hypocellularity, Tracheoesophageal fistula, Esophageal atresia, Anemia, Anal atresia,... |
OMIM:614083 |
| Fanconi Anemia, Complementation Group D2 |
|
Bone marrow hypocellularity, Annular pancreas, Pancytopenia, Anemia, Reticulocytopenia, Tracheoes... |
OMIM:227646 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Pancreatitis, Thrombocytopenia, Anemia, Abnormality of neutrophils, ... |
ORPHA:36426 |
| Apert Syndrome |
|
Bifid uvula, Ectopic anus, Esophageal atresia, Narrow palate, Cleft palate |
ORPHA:87 |
| Kindler Syndrome |
|
Anal stenosis, Dysphagia, Oral leukoplakia, Esophageal stenosis |
OMIM:173650 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hepatomegaly, High palate, Gastrointestinal hemorrhage, Esophageal varix |
ORPHA:394 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Esophageal atresia, Cleft palate |
OMIM:610536 |
| Arima Syndrome |
|
Hepatic fibrosis, Hepatic steatosis, Anemia, Cirrhosis, Hepatomegaly, Esophageal varix |
OMIM:243910 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Hamartoma of tongue, Absent gallbladder, Anal atresia, Esophageal diverticulum, Cleft palate |
OMIM:617925 |
| Fryns Syndrome |
|
Meckel diverticulum, Polysplenia, Intestinal malrotation, Aganglionic megacolon, Esophageal atres... |
OMIM:229850 |
| Feingold Syndrome Type 1 |
|
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia |
ORPHA:391641 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Congenital shortened small intestine, Annular pancreas, Meckel diverticulum, Intestinal malrotati... |
OMIM:265380 |
| Kindler Epidermolysis Bullosa |
|
Inflammation of the large intestine, Esophagitis, Abnormality of the anus, Anemia, Colitis, Dysph... |
ORPHA:2908 |
| Apert Syndrome |
|
Bifid uvula, Ectopic anus, Esophageal atresia, Narrow palate, Cleft palate, Pyloric stenosis |
OMIM:101200 |
| Vacterl With Hydrocephalus |
|
Anal atresia, Tracheoesophageal fistula, Esophageal atresia |
ORPHA:3412 |
| Hereditary Hemorrhagic Telangiectasia |
|
Cholelithiasis, Gastrointestinal hemorrhage, Tongue telangiectasia, Portal hypertension, Cholecys... |
ORPHA:774 |
| Trisomy 18 |
|
Narrow palate, Anal atresia, Esophageal atresia, Cleft palate |
ORPHA:3380 |
| Distal Deletion 12Q |
|
High, narrow palate, Microglossia, Annular pancreas, Biliary atresia, Esophageal atresia, Duodena... |
ORPHA:96149 |
| Dyskeratosis Congenita, X-Linked |
|
Bone marrow hypocellularity, Oral leukoplakia, Pancytopenia, Leukopenia, Acute myeloid leukemia, ... |
OMIM:305000 |
| Van Esch-O'Driscoll Syndrome |
|
Bifid uvula, Tracheoesophageal fistula, Esophageal atresia |
OMIM:301030 |
| Maternal Phenylketonuria |
|
High palate, Esophageal atresia |
ORPHA:2209 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Gastroesophageal reflux, Anal fissure, Ankyloglossia, Iron deficiency anemia, Gastrointestinal in... |
ORPHA:79408 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Cholestasis, Hepatosplenomegaly, Cleft soft palate, Portal hypertension, Hepatic steatosis, Dysph... |
OMIM:619503 |
| Congenital Tracheomalacia |
|
Tracheoesophageal fistula, Gastroesophageal reflux, Esophageal atresia |
ORPHA:95430 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatic fibrosis, Biliary cirrhosis, Gastroesophageal reflux, Cholestasis, Intrahepatic bile duct... |
OMIM:619534 |
| Microphthalmia, Syndromic 3 |
|
Esophageal atresia |
OMIM:206900 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Anemia, Gastrointestinal inflammation, Esophageal stricture |
ORPHA:79404 |
| Progeroid Short Stature With Pigmented Nevi |
|
Esophageal ulceration |
OMIM:176690 |
| Charge Syndrome |
|
Anal stenosis, Aplasia/Hypoplasia of the thymus, Lymphopenia, Tracheoesophageal fistula, Esophage... |
OMIM:214800 |
| Gabriele-De Vries Syndrome |
|
High palate, Esophageal atresia, Oral-pharyngeal dysphagia |
ORPHA:506358 |
| Vater/Vacterl Association |
|
Anal atresia, Tracheoesophageal fistula, Esophageal atresia |
OMIM:192350 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Congenital hepatic fibrosis, Ectopic anus, Esophageal atresia, Bifid tongue, Anal atresia |
ORPHA:93271 |
| Alström Syndrome |
|
Hepatic fibrosis, Gastroesophageal reflux, Hepatitis, Hepatosplenomegaly, Portal hypertension, He... |
ORPHA:64 |
