Budd-Chiari Syndrome |
|
Malabsorption, Hepatomegaly, Abdominal pain, Acute hepatic failure, Splenomegaly, Cirrhosis, Peri... |
ORPHA:131 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... |
OMIM:619350 |
Mungan Syndrome |
|
Tricuspid regurgitation, Abdominal pain, Barrett esophagus, Pulmonic stenosis, Hypoperistalsis, M... |
OMIM:611376 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Growth delay, Hepatomegaly, Increased circulating IgA level, Abdominal pain, Peritonitis, Diarrhe... |
ORPHA:343 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Dysphagia, Achalasia, Ischemic stroke, Hypertension |
OMIM:615750 |
Malignant Peritoneal Mesothelioma |
|
Ileus, Abdominal distention, Abdominal pain, Peritonitis, Weight loss |
ORPHA:168811 |
Malignant Atrophic Papulosis |
|
Telangiectasia of the skin, Abdominal pain, Arteritis, Peritonitis, Gastrointestinal infarctions,... |
ORPHA:679 |
Immunodeficiency 70 |
|
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, Recurrent sinusitis, D... |
OMIM:618969 |
African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... |
ORPHA:139507 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Esophageal neoplasm, Gastroesophageal reflux, Hepatomegaly, Poor suck, Weight loss, Abnormal esop... |
ORPHA:2198 |
Shigellosis |
|
Abdominal cramps, Bloody mucoid diarrhea, Hepatic failure, Vomiting, Cholestasis, Myocarditis, Uv... |
ORPHA:810 |
Colonic Varices Without Portal Hypertension |
|
Colonic varices, Intestinal bleeding |
OMIM:120440 |
Glanzmann Thrombasthenia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:273800 |
American Trypanosomiasis |
|
Hepatomegaly, Abdominal pain, Splenomegaly, Skin rash, Diarrhea, Arrhythmia, Myocarditis, Cardiom... |
ORPHA:3386 |
Microscopic Polyangiitis |
|
Sinusitis, Pancreatitis, Abdominal pain, Skin rash, Peritonitis, Diarrhea, Arrhythmia, Vasculitis... |
ORPHA:727 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Cirrhosis, Epistaxi... |
OMIM:211600 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Exocrine pancreatic insufficiency, Short stature, Hepatosplenomegaly, Eczema, Autoimmune thromboc... |
OMIM:615952 |
Carcinoma Of Esophagus |
|
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Weight loss, Dysphagia, Obesity,... |
ORPHA:70482 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute colitis, Bloody diarrhea, Pancreatitis, Intussusception, Abdominal pain, Peritonitis, Diarr... |
ORPHA:90038 |
Familial Mediterranean Fever |
|
Constipation, Pancreatitis, Diarrhea, Myocardial infarction, Pericarditis, Malabsorption, Splenom... |
ORPHA:342 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Keratitis, Esophageal neoplasm, Dyspepsia, Failure to thrive, Gastroesophageal reflux, Morphologi... |
ORPHA:1018 |
Odontoma-Dysphagia Syndrome |
|
Dysphagia, Abnormal esophagus morphology |
OMIM:164330 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Abdominal pain, Anorexia, Cirrhosis, Hep... |
ORPHA:65682 |
Deafness-Vitiligo-Achalasia Syndrome |
|
Achalasia, Severe short stature |
ORPHA:3239 |
Cyclic Neutropenia |
|
Periodontitis, Sinusitis, Enterocolitis, Abdominal pain, Otitis media, Recurrent skin infections,... |
ORPHA:2686 |
Achalasia-Microcephaly Syndrome |
|
Achalasia, Growth delay |
ORPHA:929 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... |
ORPHA:69663 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abdominal distention, Cryptorchidism, Intestinal malrotation, Abnormality of the gastrointestinal... |
ORPHA:2241 |
Necrotizing Enterocolitis |
|
Bloody diarrhea, Abdominal distention, Small for gestational age, Peritonitis, Diarrhea, Vomiting... |
ORPHA:391673 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Constipation, Orchitis, Abdominal pain, Splenomegaly, Skin rash, Peritonitis, Diarrhea, Vomiting,... |
ORPHA:32960 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Eosinophilic microabscess formation in the esophagus, Vomiting, Lactose intolerance, Feeding diff... |
ORPHA:411696 |
Tetrasomy 18P |
|
Achalasia, Syncope |
ORPHA:3307 |
+173470 integrin, beta-3 |
|
Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thrombocytopenia, Intracranial hemo... |
OMIM:173470 |
Scleromyxedema |
|
Gastroesophageal reflux, Raynaud phenomenon, Abnormality of the gastrointestinal tract, Hypoperis... |
ORPHA:167635 |
Achalasia-Microcephaly Syndrome |
|
Achalasia |
OMIM:200450 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Intestinal malrotation, Hypoperistalsis, Hypertension, Cryptorchidism, Pulmonary arterial hyperte... |
OMIM:613834 |
Bacterial Toxic-Shock Syndrome |
|
Diarrhea, Vomiting, Myocarditis, Pneumonia, Septic arthritis, Osteomyelitis, Peritonitis, Tachyca... |
ORPHA:36234 |
Microsporidiosis |
|
Keratitis, Pancreatitis, Lymphadenitis, Vomiting, Myocarditis, Biliary tract abnormality, Glossit... |
ORPHA:2552 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Malabsorption, Duodenal atresia, Intestinal malrotation, Biliary atresia, Diarr... |
OMIM:615710 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Achalasia, Orthostatic hypotension |
OMIM:252320 |
Caroli Disease |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Abdominal rigidity, Vomiting, Cholestasis, Esop... |
ORPHA:53035 |
Peritoneal Cystic Mesothelioma |
|
Abdominal distention, Constipation, Abdominal pain, Peritonitis, Weight loss |
ORPHA:168816 |
Mirage Syndrome |
|
Decreased body weight, Gastroesophageal reflux, Short stature, Aspiration pneumonia, Intracranial... |
OMIM:617053 |
Glanzmann Thrombasthenia 2 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619267 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Protracted diarrhea, Malnutrition, Death in infancy, Growth delay, Abnormal inte... |
OMIM:251850 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Achalasia |
ORPHA:2400 |
Zygomycosis |
|
Melena, Gastritis, Unusual gastrointestinal infection, Pancreatitis, Diarrhea, Vomiting, Myocardi... |
ORPHA:73263 |
Primary Peritoneal Carcinoma |
|
Abdominal distention, Constipation, Abdominal pain, Peritonitis, Nausea and vomiting |
ORPHA:168829 |
Martinez-Frias Syndrome |
|
Annular pancreas, Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula, Pancreatic... |
OMIM:601346 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Achalasia, Decreased response to growth hormone stimulation test, Short stature |
ORPHA:436174 |
Dystonia, Juvenile-Onset |
|
Pseudobulbar paralysis, Cleft palate, Small for gestational age, Dysphagia, Achalasia |
OMIM:607371 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Failure to thrive, Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormalit... |
ORPHA:79301 |
Triple A Syndrome |
|
Achalasia, Anterior hypopituitarism, Short stature |
ORPHA:869 |
Deafness, Congenital, With Vitiligo And Achalasia |
|
Achalasia, Short stature |
OMIM:221350 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Macroglossia, Short stature, Death in early adulthood, Dysphagia, Achalasia |
ORPHA:79107 |
Hereditary Hemorrhagic Telangiectasia |
|
Cholelithiasis, Telangiectasia of the skin, Mucosal telangiectasiae, Cerebral hemorrhage, Hepatic... |
ORPHA:774 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Growth delay, Retinal telangiectasia, Esophageal varix, Portal hypertension, Gastrointestinal hem... |
OMIM:617341 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Hypertension, Thrombocytopenia, Raynaud phenomenon |
ORPHA:401945 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Abdominal distention, Peritonitis, Elevated pulmonary artery pressure, Pyelonephritis, Microcolon... |
OMIM:619351 |
Familial Mediterranean Fever |
|
Crohn's disease, Episodic abdominal pain, Hepatomegaly, Abdominal pain, Splenomegaly, Orchitis, P... |
OMIM:249100 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Exocrine pancreatic insufficiency, Steatorrhea, Fat malabsorption, Chronic diarrhea |
ORPHA:309108 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Esophageal varix, Portal hypertension |
OMIM:617068 |
Oculogastrointestinal Muscular Dystrophy |
|
Malabsorption, Abnormal gastric mucosa morphology, Abdominal distention, Cachexia, Abnormality of... |
ORPHA:1876 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Hypoperistalsis, Abdominal distention |
OMIM:619365 |
Thrombocytopenia 7 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619130 |
Primary Sclerosing Cholangitis |
|
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Chronic hepatic fail... |
ORPHA:171 |
Ppoma |
|
Cholelithiasis, Constipation, Hepatomegaly, Intestinal carcinoid, Neoplasm of the small intestine... |
ORPHA:97278 |
Stuve-Wiedemann Syndrome 2 |
|
Intrauterine growth retardation, Eczema, Death in adolescence, Neonatal death, Pulmonary arterial... |
OMIM:619751 |
Ovarian Fibroma |
|
Mesenteric cyst, Abdominal distention, Abdominal pain, Peritonitis, Ovarian fibroma, Abnormality ... |
ORPHA:314473 |
Listeriosis |
|
Miscarriage, Diarrhea, Vomiting, Myocarditis, Pneumonia, Pericarditis, Jaundice, Septic arthritis... |
ORPHA:533 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Diarrhea, Esophageal varix, Nausea and vo... |
ORPHA:75234 |
Complement Factor B Deficiency |
|
Peritonitis, Pneumonia |
OMIM:615561 |
Isolated Biliary Atresia |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Periportal fibrosis, Severe failure to... |
ORPHA:30391 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Peritonitis, Erysipelas, Abdominal pain |
OMIM:134610 |
Bleeding Disorder, Platelet-Type, 12 |
|
Joint hemorrhage, Intestinal bleeding, Epistaxis, Impaired platelet aggregation |
OMIM:605735 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abdominal pain, Peritonitis, Pulmonary embolism, Growth delay, Minimal change glomerulonephritis |
ORPHA:567548 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Hepatic failure, Steatorrhea, Diarrhea, Elevated circulating aspartate aminotransfe... |
OMIM:278000 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Feeding difficulties in infancy, Atrial flutter, Dysphagia, A... |
OMIM:160900 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hepatomegaly, Abdominal pain, Hepatic failure, Splenomegaly, Cirrhosis, Small for... |
ORPHA:567983 |
Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:173590 |
Grfoma |
|
Cholelithiasis, Constipation, Hepatomegaly, Intestinal carcinoid, Neoplasm of the small intestine... |
ORPHA:97261 |
Atresia Of Small Intestine |
|
Failure to thrive, Abdominal distention, Feeding difficulties, Short stature, Intestinal malrotat... |
ORPHA:1201 |
Wolman Disease |
|
Abdominal distention, Hepatomegaly, Hepatic failure, Steatorrhea, Splenomegaly, Cachexia, Esophag... |
ORPHA:75233 |
Fabry Disease |
|
Angina pectoris, Telangiectasia of the skin, Malabsorption, Transient ischemic attack, Bundle bra... |
ORPHA:324 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Osteomyelitis, Pustule, Hypovolemic shock, Atopic dermatitis, Arrhythmia, Vomitin... |
ORPHA:171876 |
Liver Disease, Severe Congenital |
|
Hydrocele testis, Chronic gastritis, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic fai... |
OMIM:619991 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Growth delay, Absence of intrinsic factor |
OMIM:243320 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... |
ORPHA:64743 |
Serrated Polyposis Syndrome |
|
Adenomatous colonic polyposis, Ovarian neoplasm, Neoplasm of the large intestine, Colorectal poly... |
ORPHA:157798 |
Retinitis Pigmentosa 89 |
|
Micronodular cirrhosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly, Hepatic fibrosis, ... |
OMIM:618955 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Sinus bradycardia, Gastroesophageal reflux, Feeding difficulties, Small intestinal dysmotility, A... |
OMIM:619482 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... |
OMIM:619463 |
Feingold Syndrome 2 |
|
Postnatal growth retardation, Intestinal atresia, Short stature |
OMIM:614326 |
Von Willebrand Disease, Type 1 |
|
Joint hemorrhage, Aortic valve stenosis, Impaired platelet aggregation, Gastrointestinal hemorrha... |
OMIM:193400 |
Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Abdominal p... |
ORPHA:2494 |
Cirrhosis, Familial |
|
Abdominal distention, Micronodular cirrhosis, Cirrhosis, Fulminant hepatitis, Esophageal varix, H... |
OMIM:215600 |
Ovarian Fibrothecoma |
|
Abdominal distention, Abdominal pain, Peritonitis, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314478 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Gastroi... |
OMIM:231200 |
Alacrima, Achalasia, And Mental Retardation Syndrome |
|
Feeding difficulties, Orthostatic hypotension, Esophageal stenosis, Dysphagia, Achalasia |
OMIM:615510 |
Systemic Sclerosis |
|
Myocarditis, Pericarditis, Abnormal large intestine morphology, Osteomyelitis, Right ventricular ... |
ORPHA:90291 |
Solitary Rectal Ulcer Syndrome |
|
Bloody mucoid diarrhea, Bloody diarrhea, Decreased body weight, Episodic abdominal pain, Abdomina... |
ORPHA:209964 |
Glycogen Storage Disease Iv |
|
Failure to thrive, Hepatic failure, Cirrhosis, Hepatosplenomegaly, Esophageal varix, Portal hyper... |
OMIM:232500 |
Achalasia, Familial Esophageal |
|
Achalasia, Rheumatoid arthritis, Xerostomia, Keratoconjunctivitis sicca |
OMIM:200400 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Myocardial infarction, Impaired ADP-induced pl... |
OMIM:155100 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Pancreatic adenocarcinoma, Ab... |
ORPHA:2869 |
Coccidioidomycosis |
|
Osteomyelitis, Pancreatitis, Folliculitis, Skin rash, Peritonitis, Abnormality of the spleen, Inc... |
ORPHA:228123 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Hepatic failure, Cirrhosis, Hepatosple... |
ORPHA:367 |
Congenital Short Bowel Syndrome |
|
Failure to thrive, Abdominal distention, Intestinal atresia, Steatorrhea, Intestinal malrotation,... |
OMIM:615237 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Abnormal platelet function, Splenomegaly |
ORPHA:231393 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Colitis, Decreased circulating antibody level, Esophageal stenosis, Bone marrow hypocellularity, ... |
OMIM:615190 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Diarrhea, Elevated hepatic transaminase, In... |
OMIM:602347 |
Leukocyte Adhesion Deficiency |
|
Otitis media, Severe periodontitis, Impaired platelet aggregation, Pneumonia, Bone marrow hypocel... |
ORPHA:2968 |
Cleft Palate, Cardiac Defects, And Mental Retardation |
|
Gastroesophageal reflux, Feeding difficulties, Cleft palate, Short stature, Achalasia |
OMIM:600987 |
Noonan Syndrome 7 |
|
Impaired oropharyngeal swallow response, Short stature, Poor suck, Pulmonic stenosis, Abnormal es... |
OMIM:613706 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Achalasia |
OMIM:609033 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Peritonitis, Abdominal pain, Minimal change glomerulonephritis |
ORPHA:656 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric hypertrophy, Gastric ulcer, Arthritis |
OMIM:161700 |
Ganglioneuroma |
|
Episodic abdominal pain, Multiple intestinal neurofibromatosis, Abnormal rectum morphology, Color... |
ORPHA:251992 |
Nphp3-Related Meckel-Like Syndrome |
|
Intestinal malrotation, Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal ... |
ORPHA:3032 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia, Neonatal death |
OMIM:612138 |
Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Anal atresia, Aortic valve stenosis, Intestinal malrotation, Tracheoesophageal ... |
ORPHA:210122 |
Fusariosis |
|
Keratitis, Sinusitis, Osteomyelitis, Maculopapular exanthema, Peritonitis, Abnormality of the spl... |
ORPHA:228119 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Feeding difficulties, Decreased heart rate variability, Chronic constipation, Ineffective esophag... |
OMIM:209880 |
Caroli Disease, Isolated |
|
Hepatomegaly, Vomiting, Esophageal varix, Cholangitis, Portal hypertension, Liver abscess |
OMIM:600643 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Failure to thrive, Hepatomegaly, Splenomeg... |
OMIM:614576 |
Metachromatic Leukodystrophy |
|
Abnormal gallbladder morphology, Hemobilia, Abnormal stomach morphology, Intussusception, Feeding... |
ORPHA:512 |
Alpha-1-Antitrypsin Deficiency |
|
Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Gastric varix, ... |
OMIM:613490 |
Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187950 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase concentration, Sclerosin... |
OMIM:619662 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Splenomegaly, Neonatal death, Hepatic cysts, Esophageal varix,... |
OMIM:263200 |
Gallbladder Disease 1 |
|
Cholelithiasis, Pancreatitis, Cholestasis, Cholecystitis, Elevated hepatic transaminase, Hepatic ... |
OMIM:600803 |
Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Impaired ristocetin-induced platelet aggregation, Spontaneous, recur... |
ORPHA:849 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Achalasia, Orthostatic hypotension, Short stature |
OMIM:231550 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Failure to thrive, Growth delay, Hepatomegaly, Splenomegaly, Cirrhosis, Diarrhea, Hepatocellular ... |
ORPHA:370 |
Nocardiosis |
|
Keratitis, Cutaneous abscess, Thyroiditis, Osteomyelitis, Anorexia, Peritonitis, Lymphadenitis, E... |
ORPHA:31204 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Cholelithiasis, Hypoparathyroidism, Malabsorption, Chronic active hepatitis, Iridocyclitis, Chron... |
OMIM:240300 |
Bleeding Disorder, Platelet-Type, 17 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187900 |
Platelet Aggregation, Spontaneous |
|
Abnormal platelet function, Spontaneous platelet aggregation |
OMIM:173400 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Intrauterine growth retardation, Hepatomegaly, Feeding difficulties, Short stature, Elevated hepa... |
OMIM:615356 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Decreased body weight, Gastroesophageal reflux, Constipation, Feeding difficul... |
ORPHA:89842 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Growth delay, Hepatomegaly, Splenomegaly, Short stature, Cirrhosis, Increased ... |
ORPHA:264580 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Short stature, Eczema, Delayed puberty, Postnatal growth retardation, Increased circulating IgE l... |
OMIM:618985 |
Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis, Abnormal platelet morpho... |
ORPHA:2978 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... |
OMIM:619079 |
Mirizzi Syndrome |
|
Cholelithiasis, Abdominal distention, Pancreatitis, Abdominal pain, Jaundice, Anorexia, Tachycard... |
ORPHA:521219 |
Bleeding Disorder, Platelet-Type, 18 |
|
Impaired platelet aggregation, Epistaxis, Prolonged bleeding time |
OMIM:615888 |
Athrombia, Essential |
|
Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding time |
OMIM:209050 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Bronchogenic Cyst |
|
Abnormal stomach morphology, Abdominal pain, Abnormal esophagus morphology, Abnormality of the pe... |
ORPHA:2357 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Congenital pyloric atresia, Neonatal death, Esophageal stenosis |
OMIM:619817 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Decreased circulating IgG level, Anorexia, Diarrhea, Vomiting, Shock, Abnormal intestine morpholo... |
OMIM:600351 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Telangiectasia of the skin, Growth delay, Decreased response to growth hormone stimulation test, ... |
OMIM:616007 |
Congenital Tufting Enteropathy |
|
Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo... |
ORPHA:92050 |
Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Splenomegaly, Hepatic fibrosis, Esophageal varix, Portal hypertension |
OMIM:616589 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholelithiasis, Cholestatic liver disease, Giant cell hepatitis, Hematochezia, Elevated hepatic t... |
ORPHA:79095 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Abdominal distention, Abdominal pain, Spontaneous esophageal perforation, Malnutrition, Gastropar... |
OMIM:277320 |
Mgat2-Cdg |
|
Failure to thrive, Gastroesophageal reflux, Decreased circulating IgG level, Feeding difficulties... |
ORPHA:79329 |
Hardikar Syndrome |
|
Hepatomegaly, Hepatic failure, Vomiting, Cholestasis, Esophageal varix, Prolonged neonatal jaundi... |
OMIM:301068 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Persistent fetal circulation, Small for gestational age, Thrombocytopenia, Feedin... |
OMIM:618775 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Dysphagia, Achalasia |
OMIM:300858 |
Microgastria-Limb Reduction Defects Association |
|
Failure to thrive, Gastroesophageal reflux, Intestinal malrotation, Splenogonadal fusion, Biliary... |
OMIM:156810 |
Beta-Thalassemia |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Hypertrophic cardiomyopathy |
ORPHA:848 |
Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Constipation, Abdominal pain, Intest... |
ORPHA:263665 |
Wiskott-Aldrich Syndrome |
|
Keratitis, Otitis media, Sudden cardiac death, Eczema, Hematochezia, Prolonged bleeding time, Ble... |
ORPHA:906 |
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma |
|
Cirrhosis, Death in childhood, Diarrhea, Neonatal death, Cholestasis, Hepatic fibrosis, Death in ... |
OMIM:609313 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Decreased liver function, Hypoparathyroidism, High-output congestive heart failur... |
ORPHA:231222 |
Reynolds Syndrome |
|
Telangiectasia of the skin, Abnormal gastric mucosa morphology, Gastroesophageal reflux, Hepatome... |
ORPHA:779 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Malabsorption, Budd-Chiari syndrome, Hepatomegaly, Abdominal pain, Diarrhea, Pulmonary embolism, ... |
OMIM:226300 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Failure to thrive, Abdominal distention, Hepatomegaly, Diarrhea, Vomiti... |
OMIM:608104 |
Caroli Syndrome |
|
Melena, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Hepatic failure, Abdominal rigidity, Esop... |
ORPHA:480520 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Dysphagia, Achalasia |
ORPHA:289483 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Postnatal growth retardation, Hepatic fail... |
ORPHA:79303 |
Scleroderma |
|
Keratitis, Myocarditis, Uveitis, Transient ischemic attack, Pericarditis, Abnormal large intestin... |
ORPHA:801 |
Sialuria |
|
Cholelithiasis, Hepatomegaly, Episodic abdominal pain, High, narrow palate, Hepatosplenomegaly, E... |
ORPHA:3166 |
Coach Syndrome 1 |
|
Growth delay, Hepatomegaly, Intrahepatic bile duct dilatation, Splenomegaly, Cirrhosis, Elevated ... |
OMIM:216360 |
Trichohepatoneurodevelopmental Syndrome |
|
High palate, Decreased liver function, Cholelithiasis, Decreased body weight, Gastroesophageal re... |
OMIM:618268 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Constipation, Abnormal esophagus morphology, Spontaneous esophageal perforation, Esophageal stric... |
OMIM:226600 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Constipation, Skin rash, Gast... |
ORPHA:44890 |
Fanconi Anemia, Complementation Group Q |
|
Short stature, Biliary atresia, Anteriorly placed anus, Bone marrow hypocellularity, Growth delay... |
OMIM:615272 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis, Failure to thrive, Projectile vomiting |
OMIM:179010 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Duodenal atresia, Bloody diarrhea, Intestinal atresia, Enterocolitis, Intestinal malrotation, Pso... |
OMIM:243150 |
Bleeding Disorder, Platelet-Type, 8 |
|
Impaired ADP-induced platelet aggregation, Epistaxis |
OMIM:609821 |
Bare Lymphocyte Syndrome, Type Ii |
|
Failure to thrive, Malabsorption, Colitis, Viral hepatitis, Biliary tract abnormality, Panhypogam... |
OMIM:209920 |
Fanconi Anemia, Complementation Group O |
|
Anal atresia, Miscarriage, Short stature, Neonatal death, Death in infancy, Cryptorchidism, Recta... |
OMIM:613390 |
Gcgr-Related Hyperglucagonemia |
|
Cholelithiasis, Abnormal biliary tract morphology, Abdominal pain, Neoplasm of the pancreas |
ORPHA:438274 |
Aspergillosis |
|
Keratitis, Sinusitis, Osteomyelitis, Intracranial hemorrhage, Abnormal esophagus morphology, Hepa... |
ORPHA:1163 |
Ataxia-Pancytopenia Syndrome |
|
Decreased circulating antibody level, Abnormal platelet function, Splenomegaly |
ORPHA:2585 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Abdominal distention, Intestinal malrotation, Vomiting, Pyloric stenosis, Feeding difficulties in... |
OMIM:300048 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation, Epistaxis |
OMIM:614009 |
Hepatocellular Carcinoma |
|
Hepatomegaly, Diarrhea, Esophageal varix, Weight loss, Poor appetite, Jaundice, Elevated hepatic ... |
ORPHA:88673 |
Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology, Hepatomegaly, Abdominal pain, Biliary tract abnormality, Jaun... |
ORPHA:234 |
Hermansky-Pudlak Syndrome 3 |
|
Spontaneous, recurrent epistaxis, Impaired platelet aggregation, Abnormal number of dense granules |
OMIM:614072 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
High palate, Postnatal growth retardation, Feeding difficulties, Cleft palate, Small for gestatio... |
ORPHA:96184 |
Disorder Of Bile Acid Synthesis |
|
Cholestasis, Biliary tract abnormality, Elevated hepatic transaminase, Fat malabsorption, Abnorma... |
ORPHA:79168 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary... |
OMIM:210500 |
Intrinsic Factor Deficiency |
|
Malabsorption, Absence of intrinsic factor |
OMIM:261000 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Decreased liver function, Eczema, Cirrhosis |
ORPHA:79278 |
Syndromic Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Testicular seminoma, Abnormal stomach morphology, Short stature |
ORPHA:281090 |
Autoerythrocyte Sensitization Syndrome |
|
Joint hemorrhage, Impaired platelet adhesion, Intracranial hemorrhage, Diarrhea, Autoimmune throm... |
ORPHA:324636 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
High palate, Cholelithiasis, Failure to thrive, Decreased body weight, Short stature, Furrowed to... |
OMIM:300534 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Impaired platelet aggregation, Gastric ulcer, Duodenal ulcer, Esophageal ulceration |
OMIM:618372 |
Hyperbiliverdinemia |
|
Cholelithiasis, Decreased liver function, Cholestasis |
OMIM:614156 |
Triosephosphate Isomerase Deficiency |
|
Cholelithiasis, Failure to thrive, Splenomegaly, Death in adolescence, Cholecystitis, Death in in... |
OMIM:615512 |
Cryptococcosis |
|
Prostatitis, Osteomyelitis, Cirrhosis, Peritonitis, Vomiting, Pneumonia |
ORPHA:1546 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Esophageal varix, Fat malabsorption, Gastrointes... |
ORPHA:731 |
Hermansky-Pudlak Syndrome 2 |
|
Enlarged platelet dense granules, Periodontitis, Gastroesophageal reflux, Hepatomegaly, Chronic o... |
OMIM:608233 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, ... |
OMIM:616100 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Failure to thrive, Short stature, Esophageal stricture, Dilated cardiomyopathy, Hepatic fibrosis,... |
OMIM:613989 |
Hereditary Spherocytosis |
|
Cholelithiasis, Abdominal distention, Hepatomegaly, Abdominal pain, Splenomegaly, Restrictive car... |
ORPHA:822 |
Lysosomal Acid Lipase Deficiency |
|
Hepatic failure, Steatorrhea, Diarrhea, Vomiting, Esophageal varix, Weight loss, Jaundice, Feedin... |
ORPHA:275761 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Elevated circulating aspartate aminotransferase c... |
ORPHA:79302 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Hematemesis, Decreased platelet glycoprotein Ib... |
ORPHA:274 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Gray Platelet Syndrome |
|
Impaired collagen-induced platelet aggregation, Splenomegaly, Abnormal number of alpha granules, ... |
OMIM:139090 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cholelithiasis, Decreased body weight, Hepatic failure, Poor suck, Short stature, Elevated hepati... |
OMIM:614886 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Eczema, Esophageal varix, Bone marrow hypocellularity, Feeding difficulties, Spleno... |
OMIM:615688 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Esophageal stricture, Telangiectasia, Crusting erythematous dermatitis |
ORPHA:158673 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Cholelithiasis, Giant cell hepatitis, Jaundice |
OMIM:214980 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Eczema, Hepatic failure |
OMIM:177000 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Angina pectoris, Pseudobulbar paralysis, Diarrhea, Myocardial infarction |
OMIM:213700 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Splenomegaly, Impaired neutrophil bactericidal activity, Cholecystitis, Pigment g... |
OMIM:613470 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Jaundice, Splenomegaly |
OMIM:224100 |
Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Protoporphyria, Erythropoietic, X-Linked |
|
Cholelithiasis, Elevated hepatic transaminase |
OMIM:300752 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation |
OMIM:618462 |
Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Thr... |
OMIM:187800 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Mitral regurgitation, Hypertension, Colonic diverticula |
OMIM:173900 |
Alpha-Thalassemia |
|
Cholelithiasis, Jaundice, Hypersplenism, Splenomegaly |
ORPHA:846 |
22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Constipation, Cleft palate, Impaired T cell function, Acne, Anorectal anomaly, Ga... |
ORPHA:567 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cholelithiasis, Bacterial endocarditis, Feeding difficulties, Splenomegaly, Cachexia, Hepatosplen... |
ORPHA:2072 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Aortic valve stenosis, Splenomegaly, Intestinal malrotation, Cirrhosis, Pancreatic ... |
OMIM:208540 |
Gastroesophageal Reflux |
|
Esophagitis, Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus |
OMIM:109350 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Failure to thrive, Exocrine pancreatic insufficiency, Feeding difficulties, Small for gestational... |
ORPHA:2255 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Failure to thrive, Hepatomegaly, Cleft palate, Decreased circulating total IgM, E... |
ORPHA:83617 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal dense granule content, Impaired platelet aggregation, Abnormal alpha granule content, Th... |
OMIM:601399 |
Adams-Oliver Syndrome |
|
Failure to thrive, Cirrhosis, Congenital hepatic fibrosis, Thrombocytopenia, Esophageal varix, Po... |
ORPHA:974 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Abdominal cramps, Slender build, Malabsorption, Early satiety, Constipation, Abdominal pain, Cach... |
OMIM:603041 |
Von Willebrand Disease, Type 3 |
|
Joint hemorrhage, Impaired platelet aggregation, Thrombocytopenia, Epistaxis, Prolonged bleeding ... |
OMIM:277480 |
Plummer-Vinson Syndrome |
|
Cheilitis, Abdominal pain, Esophageal web, Glossitis, Tongue atrophy, Dysphagia, Poor appetite |
ORPHA:54028 |
Senior-Boichis Syndrome |
|
Cirrhosis, Hepatosplenomegaly, Reduced number of intrahepatic bile ducts, Malformation of the hep... |
ORPHA:84081 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Skin rash, Arthritis, Serositis, Glomerulonephritis, Hypertension, Synovitis |
ORPHA:567544 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Juvenile Polyposis Syndrome |
|
Failure to thrive, Multiple gastric polyps, Intussusception, Abdominal pain, Duodenal adenocarcin... |
OMIM:174900 |
Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Bone marrow hypocellularity, Intrauterine growth retardation, Oral leukoplakia, Esophageal stenosis |
OMIM:616553 |
Bleeding Disorder, Platelet-Type, 21 |
|
Eczema, Impaired platelet aggregation, Psoriasiform dermatitis, Thrombocytopenia |
OMIM:617443 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bloody diarrhea, Intestinal bleeding, Multiple gastric polyps, Intussus... |
OMIM:175200 |
Immunodeficiency 17 |
|
Recurrent gastroenteritis, Failure to thrive, Recurrent otitis media, Chronic oral candidiasis, E... |
OMIM:615607 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Intrauterine growth retardation, Hepatomegaly, Splenomegaly, Cholecystitis, Jaundice |
OMIM:266200 |
Hermansky-Pudlak Syndrome 9 |
|
Abnormal platelet aggregation, Thrombocytopenia, Recurrent skin infections |
OMIM:614171 |
Afibrinogenemia, Congenital |
|
Hematemesis, Subdural hemorrhage, Death in childhood, Epidural hemorrhage, Death in adolescence, ... |
OMIM:202400 |
Barrett Esophagus |
|
Esophageal ulceration, Gastroesophageal reflux, Esophageal carcinoma, Barrett esophagus |
OMIM:614266 |
Radiation Proctitis |
|
Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, Abnormal rectum morpholo... |
ORPHA:70475 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Pulmonary hemorrhage, Aortic regurgitation, Macrothrombocytopenia, Thrombocytopenia, Decreased pl... |
OMIM:603585 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Cholelithiasis, Hepatomegaly, Jaundice, Intrahepatic cholestasis |
OMIM:605479 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Short stature, Tracheoesophageal fistula, Neonatal death, Bilateral cryptorchidism, Esophageal at... |
OMIM:619859 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Neoplasm of the liver, Abdominal distention, Episodic abdominal pain, Hepatomegaly, Intrahepatic ... |
ORPHA:100085 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Esophageal stricture, Growth delay, Gastrointestinal inflammation |
ORPHA:79409 |
Blue Rubber Bleb Nevus |
|
Abnormality of the liver, Intestinal bleeding, Intussusception, Rectal prolapse, Thrombocytopenia... |
OMIM:112200 |
Glycogen Storage Disease Vii |
|
Cholelithiasis, Jaundice, Gout |
OMIM:232800 |
Microgastria-Limb Reduction Defect Syndrome |
|
Anal atresia, Failure to thrive, Hiatus hernia, Gastroesophageal reflux, Feeding difficulties, He... |
ORPHA:2538 |
Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level, Gastric ulcer |
OMIM:604928 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Congenital pyloric atresia, Intractable diarrhea, Esophageal atresia, Death in infancy |
OMIM:226730 |
Celiac Disease, Susceptibility To, 1 |
|
Failure to thrive, Decreased circulating IgA level, Abdominal distention, Abdominal pain, Steator... |
OMIM:212750 |
Sickle Cell Anemia |
|
Cholelithiasis, Hepatomegaly, Abdominal pain, Splenomegaly, Hypertension, Jaundice |
OMIM:603903 |
Non-Syndromic Posterior Hypospadias |
|
Anal atresia, Cleft palate, Small for gestational age, Cryptorchidism, Esophageal atresia |
ORPHA:95706 |
Benign Schwannoma |
|
Intestinal polyposis, Abnormal esophagus morphology, Abnormality of the liver, Abnormal parotid g... |
ORPHA:252164 |
Adams-Oliver Syndrome 5 |
|
Splenomegaly, Pulmonic stenosis, Esophageal varix, Pulmonary arterial hypertension, Hypersplenism |
OMIM:616028 |
Bohring-Opitz Syndrome |
|
Cholelithiasis, Annular pancreas, Cleft palate, Severe failure to thrive, Short stature, Vomiting... |
ORPHA:97297 |
Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Tracheoesophageal fistula, Esophageal atresia |
OMIM:189960 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Failure to thrive, Colon perforation, Intestinal malrotation, Biliary atresia, Pulmonic stenosis,... |
OMIM:600001 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Telangiectasia of the skin, Malabsorption, Blepharitis, Hepatomegaly, P... |
ORPHA:1775 |
Immunodeficiency 23 |
|
High palate, Failure to thrive, Vasculitis in the skin, Eczema, Membranoproliferative glomerulone... |
OMIM:615816 |
Septo-Optic Dysplasia Spectrum |
|
Constipation, Cleft palate, Short stature, Tracheoesophageal fistula, Obesity, Cryptorchidism, Es... |
ORPHA:3157 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
High palate, Decreased liver function, Slender build, Failure to thrive, Gastroesophageal reflux,... |
OMIM:613658 |
Trisomy 8P |
|
Annular pancreas, Constipation, Cleft palate, Malrotation of small bowel, Bifid uvula, Heart murm... |
ORPHA:264450 |
Abcd Syndrome |
|
Large for gestational age, Total intestinal aganglionosis, Neonatal death, Aganglionic megacolon |
OMIM:600501 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cholelithiasis, Constipation, High, narrow palate, Cleft palate, Furrowed tongue, Recurrent pneum... |
ORPHA:464738 |
Stevens-Johnson Syndrome |
|
Pancreatitis, Abdominal pain, Acute hepatic failure, Sudden cardiac death, Diarrhea, Esophageal s... |
ORPHA:36426 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Skin rash, Impaired neutrophil chemotaxis, Reduce... |
OMIM:619374 |
Trisomy 10P |
|
High palate, Gastroesophageal reflux, Small for gestational age, Poor suck, Absent gallbladder, D... |
ORPHA:171929 |
Steinert Myotonic Dystrophy |
|
Cholelithiasis, Testicular atrophy, Constipation, Diarrhea, Intestinal pseudo-obstruction, Ovaria... |
ORPHA:273 |
Zttk Syndrome |
|
High palate, Failure to thrive, Intestinal atresia, Feeding difficulties, Short stature, Bifid uv... |
OMIM:617140 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Elevated hepatic transaminase, Esophageal var... |
ORPHA:309854 |
Classic Homocystinuria |
|
High palate, Hepatomegaly, Anorexia, Intracranial hemorrhage, Pulmonary embolism, Cerebral ischem... |
ORPHA:394 |
Quebec Platelet Disorder |
|
Joint hemorrhage, Thrombocytopenia, Epistaxis, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Meckel Syndrome, Type 2 |
|
Intestinal malrotation, Bile duct proliferation, Intrauterine growth retardation, Cleft palate |
OMIM:603194 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Anal atresia, Cleft palate, Esophageal diverticulum, Neonatal death, Hamartoma of tongue, Absent ... |
OMIM:617925 |
Methimazole Embryofetopathy |
|
Tracheoesophageal fistula, Esophageal atresia, Intrauterine growth retardation |
ORPHA:1923 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Intrauterine growth retardation, Bloody diarrhea, Abdominal distention, Intestinal atresia, Intes... |
ORPHA:436252 |
Erythrocytosis, Familial, 8 |
|
Cholelithiasis, Cholecystitis, Jaundice, Splenomegaly |
OMIM:222800 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... |
OMIM:617394 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Cholelithiasis, Hepatomegaly, Cleft palate, Hepatosplenomegaly, Cholecystitis, Recurrent otitis m... |
OMIM:301066 |
Noonan Syndrome |
|
High palate, Hepatomegaly, Short stature, Abnormality of the spleen, Arrhythmia, Abnormal platele... |
ORPHA:648 |
Fanconi Anemia, Complementation Group B |
|
Intrauterine growth retardation, Duodenal atresia, Tracheoesophageal fistula, Death in infancy, G... |
OMIM:300514 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Macrovesicular hepatic steatosis, Cholestasis, Acute hepatic steatosis, Hepatitis, Cholesterol ga... |
ORPHA:209902 |
Primary Biliary Cholangitis |
|
Abdominal distention, Increased circulating IgA level, Hepatic failure, Cirrhosis, Orthostatic hy... |
ORPHA:186 |
Hermansky-Pudlak Syndrome 7 |
|
Impaired platelet aggregation, Epistaxis |
OMIM:614076 |
Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Prolonged bleeding time, Thrombocytopenia |
OMIM:173420 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Cholelithiasis, Cholecystitis, Jaundice, Splenomegaly |
OMIM:235700 |
Sickle Cell Anemia |
|
Osteomyelitis, Abnormality of the spleen, Cholestasis, Thrombocytosis, Pigment gallstones |
ORPHA:232 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Cirrhosis, Sclerosing cholangitis, Increased circulating IgG level, Ch... |
ORPHA:562639 |
Cimdag Syndrome |
|
Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly, Feeding difficulties, Death in ea... |
OMIM:619273 |
Chronic Granulomatous Disease |
|
Malabsorption, Sinusitis, Hepatomegaly, Splenomegaly, Otitis media, Tracheoesophageal fistula, Ec... |
ORPHA:379 |
Progeroid Short Stature With Pigmented Nevi |
|
Aortic valve stenosis, Allergic conjunctivitis, Small for gestational age, Short stature, Impaire... |
OMIM:176690 |
Feingold Syndrome |
|
Annular pancreas, Duodenal atresia, Short stature, Abnormality of the spleen, Esophageal atresia |
ORPHA:1305 |
Hermansky-Pudlak Syndrome 5 |
|
Impaired ADP-induced platelet aggregation, Absent platelet dense granules, Thrombocytopenia, Epis... |
OMIM:614074 |
Hereditary Elliptocytosis |
|
Cholelithiasis, Abdominal pain, Splenomegaly, Prolonged neonatal jaundice, Postnatal growth retar... |
ORPHA:288 |
Urachal Cyst |
|
Peritonitis, Abdominal pain |
ORPHA:488 |
Meckel Syndrome, Type 6 |
|
Cleft palate, Hepatic cysts, Absent gallbladder, Hepatic fibrosis, Bile duct proliferation, Cysti... |
OMIM:612284 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Feeding difficulties, Postnatal growth retardation, Gastroesophageal reflux, Esophagitis |
ORPHA:79350 |
Fg Syndrome Type 1 |
|
High palate, Anal atresia, Malrotation of colon, Slender build, Gastroesophageal reflux, Constipa... |
ORPHA:93932 |
Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Thyroiditis, Cholangiocarcinoma, Pituitary adenoma, Pancreatitis, ... |
ORPHA:733 |
Pseudohypoparathyroidism Type 1A |
|
Abdominal symptom, Conjunctivitis, Decreased response to growth hormone stimulation test, Reduced... |
ORPHA:79443 |
Coffin-Siris Syndrome 11 |
|
High palate, Bifid uvula, Feeding difficulties in infancy, Esophageal atresia, Cleft soft palate |
OMIM:618779 |
Visceral Myopathy 1 |
|
Constipation, Abdominal distention, Abdominal pain, Pancreatitis, Diarrhea, Vomiting, Dysphagia, ... |
OMIM:155310 |
Williams Syndrome |
|
Cholelithiasis, Constipation, Tracheoesophageal fistula, Sudden cardiac death, Death in early adu... |
ORPHA:904 |
Glycogen Storage Disease Xii |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Short stature, Cholecystitis, Elevated circulating al... |
OMIM:611881 |
Hermansky-Pudlak Syndrome 6 |
|
Impaired ADP-induced platelet aggregation, Epistaxis, Prolonged bleeding time, Abnormal platelet ... |
OMIM:614075 |
Leiomyoma Of Vulva And Esophagus |
|
Esophageal obstruction |
OMIM:150700 |
Distal Trisomy 5Q |
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Aplasia/Hypoplasia of the gallbladder, Cryptorchidism, Eczema, Short stature |
ORPHA:96097 |
Chédiak-Higashi Syndrome |
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Decreased liver function, Periodontitis, Recurrent bacterial skin infections, Skin rash, Splenome... |
ORPHA:167 |
Kindler Syndrome |
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Telangiectasia of the skin, Periodontitis, Anal stenosis, Esophageal stenosis, Dysphagia, Oral le... |
OMIM:173650 |
Bannayan-Riley-Ruvalcaba Syndrome |
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Angina pectoris, Abnormal large intestine morphology, Narrow palate, Short stature, Cachexia, Int... |
ORPHA:109 |
Triploidy |
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Hepatomegaly, Macroglossia, Cleft palate, Intestinal malrotation, Abnormality of the pancreas, Ab... |
ORPHA:3376 |
Dehydrated Hereditary Stomatocytosis |
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Cholelithiasis, Pulmonary venous hypertension, Abdominal pain, Splenomegaly, Intermittent jaundice |
ORPHA:3202 |
Wilson Disease |
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Hypoparathyroidism, Abdominal distention, Hepatomegaly, Hepatic failure, Acute hepatic failure, S... |
OMIM:277900 |
Lathosterolosis |
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High palate, Hepatosplenomegaly, Increased mean platelet volume, Elevated hepatic transaminase, I... |
OMIM:607330 |
Digeorge Syndrome |
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High palate, Hydrocele testis, Cholelithiasis, Cleft palate, Ovarian cyst, Impaired T cell functi... |
OMIM:188400 |
8P Inverted Duplication/Deletion Syndrome |
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Aplasia/Hypoplasia of the gallbladder, Cryptorchidism, High, narrow palate |
ORPHA:96092 |
Early-Onset Familial Hypoaldosteronism |
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Failure to thrive, Feeding difficulties, Orthostatic hypotension, Vomiting, Hypotension, Postnata... |
ORPHA:556030 |
Chronic Graft Versus Host Disease |
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Bronchiectasis, Gastroesophageal reflux, Abdominal pain, Anorexia, Xerostomia, Abnormal esophagus... |
ORPHA:99921 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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Cleft palate, Short stature, Intracranial hemorrhage, Heart murmur, Absent gallbladder, Cryptorch... |
ORPHA:163979 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
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High palate, Small for gestational age, Pancreatic aplasia, Absent gallbladder, Intrauterine grow... |
ORPHA:556955 |
Late-Onset Familial Hypoaldosteronism |
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Failure to thrive, Orthostatic hypotension, Vomiting, Hypotension, Postnatal growth retardation |
ORPHA:556037 |
Spherocytosis, Type 1 |
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Cholelithiasis, Jaundice, Splenomegaly |
OMIM:182900 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
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Tracheoesophageal fistula, Cryptorchidism, Esophageal atresia, Growth delay |
ORPHA:77298 |
Cartilage-Hair Hypoplasia |
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Malabsorption, Neonatal short-limb short stature, Constipation, Anal stenosis, Esophageal atresia... |
OMIM:250250 |
Hermansky-Pudlak Syndrome 8 |
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Impaired platelet aggregation, Epistaxis |
OMIM:614077 |
Hermansky-Pudlak Syndrome 11 |
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Impaired collagen-induced platelet aggregation, Epistaxis, Reduced platelet dense granules |
OMIM:619172 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Cholelithiasis, Hepatomegaly, Splenomegaly, Hepatitis, Jaundice |
OMIM:194380 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
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Cholelithiasis, Decreased liver function, Neoplasm of the liver, Hepatomegaly, Hepatic failure, S... |
ORPHA:77293 |
Gallbladder Neuroendocrine Tumor |
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Abdominal distention, Episodic abdominal pain, Extrahepatic cholestasis, Anorexia, Cholecystitis,... |
ORPHA:100086 |
Chromosome 17Q12 Duplication Syndrome |
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Esophageal atresia, Cleft soft palate |
OMIM:614526 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
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Esophageal stricture, Hepatic fibrosis, Bone marrow hypocellularity, Thrombocytopenia, Oral leuko... |
OMIM:224230 |
Bartter Syndrome, Type 2, Antenatal |
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Failure to thrive, Constipation, Small for gestational age, Short stature, Diarrhea, Vomiting, Im... |
OMIM:241200 |
Rhombencephalosynapsis |
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Tracheoesophageal fistula, Anal atresia, Esophageal atresia, Aganglionic megacolon |
ORPHA:59315 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
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Duodenal atresia, Short stature, Tracheoesophageal fistula, Esophageal atresia, Submucous cleft h... |
OMIM:619227 |
Sitosterolemia 1 |
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Abdominal pain, Splenomegaly, Arthritis, Impaired platelet aggregation, Giant platelets, Thromboc... |
OMIM:210250 |
Apert Syndrome |
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Ectopic anus, Narrow palate, Ovarian neoplasm, Cleft palate, Bifid uvula, Feeding difficulties in... |
ORPHA:87 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Gastroesophageal reflux, Decreased circulating IgG level, Cleft palate, Submucous cleft soft pala... |
ORPHA:500150 |
Glycogen Storage Disease Ixc |
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Growth delay, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated... |
OMIM:613027 |
Feingold Syndrome Type 1 |
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Anal atresia, Duodenal atresia, Nephritis, Short stature, Tricuspid stenosis, Gastrointestinal at... |
ORPHA:391641 |
Metachromatic Leukodystrophy, Adult Form |
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Abdominal distention, Orthostatic hypotension due to autonomic dysfunction, Cholecystitis, Bowel ... |
ORPHA:309271 |
Peters-Plus Syndrome |
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Disproportionate short-limb short stature, Decreased body weight, Cleft palate, Pulmonic stenosis... |
OMIM:261540 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Esophag... |
OMIM:619534 |
Craniofacioskeletal Syndrome |
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Cleft palate, Short stature, Absent gallbladder, Cryptorchidism, Intrauterine growth retardation |
OMIM:300712 |
Meckel Syndrome, Type 3 |
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Hepatomegaly, Cleft palate, Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct... |
OMIM:607361 |
Drug-Induced Lupus Erythematosus |
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Prolonged QTc interval, Serositis, Malar rash, Pericarditis, Thrombocytopenia |
ORPHA:231111 |
Pentalogy Of Cantrell |
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Absent gallbladder, Polysplenia, Cleft palate |
ORPHA:1335 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
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Feeding difficulties in infancy, Esophageal atresia, Cleft palate, Short stature |
OMIM:610536 |
Distal Monosomy 12Q |
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Annular pancreas, Growth delay, Duodenal atresia, Pituitary adenoma, High, narrow palate, Short s... |
ORPHA:96149 |
Tetrasomy 9P |
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High palate, Intrauterine growth retardation, Feeding difficulties, Cleft palate, Biliary atresia... |
ORPHA:3310 |
Feingold Syndrome 1 |
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High palate, Annular pancreas, Duodenal atresia, Tracheoesophageal fistula, Accessory spleen, Pol... |
OMIM:164280 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Annular pancreas, Anal atresia, Duodenal atresia, Cleft palate, Intestinal malrotation, Tracheoes... |
OMIM:265380 |
Porphyria, Congenital Erythropoietic |
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Cholelithiasis, Short stature, Splenomegaly, Thrombocytopenia, Conjunctivitis |
OMIM:263700 |
Ring Chromosome 13 Syndrome |
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High palate, Anal atresia, Hypoplasia of the gallbladder, Growth delay |
ORPHA:96176 |
Combined Oxidative Phosphorylation Deficiency 37 |
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Decreased liver function, Failure to thrive, Feeding difficulties, Macrovesicular hepatic steatos... |
OMIM:618329 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Impaired platelet aggregation, Abnormal platelet morphology, Thrombocytopenia |
OMIM:300835 |
Fanconi Anemia, Complementation Group D2 |
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Annular pancreas, Small for gestational age, Short stature, Tracheoesophageal fistula, Bone marro... |
OMIM:227646 |
Congenital Tracheomalacia |
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Failure to thrive, Gastroesophageal reflux, Feeding difficulties, Tracheoesophageal fistula, Pneu... |
ORPHA:95430 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
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Melena, Telangiectasia of the skin, Miscarriage, Hemothorax, Pulmonary hemorrhage, Subarachnoid h... |
OMIM:187300 |
Trisomy 18 |
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Anal atresia, Intrauterine growth retardation, Narrow palate, Cleft palate, Short stature, Cachex... |
ORPHA:3380 |
Fryns Syndrome |
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Anal atresia, Duodenal atresia, Stillbirth, Cleft palate, Intestinal malrotation, Ectopic pancrea... |
OMIM:229850 |
Fanconi Anemia, Complementation Group L |
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Anal atresia, Intrauterine growth retardation, Feeding difficulties, Cleft palate, Tracheoesophag... |
OMIM:614083 |
Congenital Tracheal Stenosis |
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Anal atresia, Duodenal atresia, Abnormal stomach morphology, Morphological abnormality of the gas... |
ORPHA:141127 |
Kindler Epidermolysis Bullosa |
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Cheilitis, Colitis, Periodontitis, Recurrent skin infections, Inflammation of the large intestine... |
ORPHA:2908 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
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Microcolon, Abdominal distention, Neonatal death |
OMIM:619362 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Failure to thrive, Constipation, Pyoderma, Recurrent skin infections, Vomiting, Esophageal strict... |
ORPHA:79404 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
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Gastroesophageal reflux, Recurrent skin infections, Glomerulonephritis, Dilated cardiomyopathy, M... |
ORPHA:79408 |
Steinfeld Syndrome |
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Absent gallbladder, Median cleft lip and palate, Bifid uvula |
OMIM:184705 |
Apert Syndrome |
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Ectopic anus, Narrow palate, Cleft palate, Bifid uvula, Chronic otitis media, Rhizomelic arm shor... |
OMIM:101200 |
Cerebrotendinous Xanthomatosis |
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Cholelithiasis, Chronic diarrhea, Prolonged neonatal jaundice |
ORPHA:909 |
Vacterl With Hydrocephalus |
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Anal atresia, Intrauterine growth retardation, Tracheoesophageal fistula, Cryptorchidism, Esophag... |
ORPHA:3412 |
Neurofibroma |
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Abnormal biliary tract morphology, Intestinal bleeding, Multiple intestinal neurofibromatosis, En... |
ORPHA:252183 |
Hyper-Igd Syndrome |
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Increased circulating IgA level, Chronic oral candidiasis, Abdominal pain, Splenomegaly, Skin ras... |
OMIM:260920 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Failure to thrive, Recurrent otitis media, Hepatomegaly, Gastroesophageal reflux, Splenomegaly, P... |
OMIM:619525 |
Nephronophthisis 19 |
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Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation |
OMIM:616217 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
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Abdominal distention, Intestinal atresia, Recurrent skin infections, Congenital pyloric atresia, ... |
ORPHA:79403 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepati... |
OMIM:203700 |
Dyskeratosis Congenita, X-Linked |
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Blepharitis, Intrauterine growth retardation, Conjunctivitis, Short stature, Cirrhosis, Anal muco... |
OMIM:305000 |
Meckel Syndrome, Type 4 |
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Bile duct proliferation, Intrauterine growth retardation, Cleft palate |
OMIM:611134 |
Van Esch-O'Driscoll Syndrome |
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Feeding difficulties, Short stature, Tracheoesophageal fistula, Esophageal atresia, Bifid uvula, ... |
OMIM:301030 |
Microphthalmia, Syndromic 3 |
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Short stature, Postnatal growth retardation, Cryptorchidism, Esophageal atresia, Anterior pituita... |
OMIM:206900 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Nephritis, Short stature, Polycystic liver disease, Pancreatic fibrosis, Pulmonary insufficiency,... |
OMIM:208500 |
Cranioectodermal Dysplasia 2 |
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High palate, Hepatomegaly, Cleft palate, Splenomegaly, Short stature, Cholestasis, Elevated hepat... |
OMIM:613610 |
Meckel Syndrome, Type 5 |
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Bile duct proliferation, Cleft palate |
OMIM:611561 |
Maternal Phenylketonuria |
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High palate, Intrauterine growth retardation, Esophageal atresia |
ORPHA:2209 |
Meckel Syndrome, Type 7 |
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Aortic valve stenosis, Hepatosplenomegaly, Cholestasis, Portal hypertension, Bile duct proliferat... |
OMIM:267010 |
D-Bifunctional Protein Deficiency |
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High palate, Failure to thrive, Hepatomegaly, Splenomegaly, Cholestasis, Feeding difficulties in ... |
OMIM:261515 |
Gabriele-De Vries Syndrome |
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High palate, Intrauterine growth retardation, Decreased response to growth hormone stimulation te... |
ORPHA:506358 |
Viss Syndrome |
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High palate, Chronic gastritis, Eczema, Broad uvula, Decreased circulating IgA level, High, narro... |
OMIM:619472 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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High palate, Cholestasis, Esophageal varix, Thyroid hypoplasia, Feeding difficulties, Small pitui... |
OMIM:619503 |
Alström Syndrome |
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Pancreatitis, Hepatomegaly, Abnormal liver physiology, Hepatic failure, Otitis media, Hyoplasia o... |
ORPHA:64 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
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Congenital pyloric atresia, Abdominal distention, Vomiting |
ORPHA:158684 |
Meckel Syndrome, Type 1 |
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Anal atresia, Cleft palate, Splenomegaly, Intestinal malrotation, Accessory spleen, Malformation ... |
OMIM:249000 |
Vater/Vacterl Association |
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Failure to thrive, Anal atresia, Intrauterine growth retardation, Tracheoesophageal fistula, Post... |
OMIM:192350 |
Charge Syndrome |
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Hypoparathyroidism, Anal atresia, Duodenal atresia, Decreased response to growth hormone stimulat... |
OMIM:214800 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
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Absent gallbladder |
ORPHA:3186 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Ectopic anus, Anal atresia, Disproportionate short-limb short stature, Abdominal distention, Bifi... |
ORPHA:93271 |
Joubert Syndrome 6 |
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Bile duct proliferation, Hepatic fibrosis |
OMIM:610688 |