Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,... |
ORPHA:131 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Mungan Syndrome |
|
Tricuspid regurgitation, Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Hypoper... |
OMIM:611376 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Increased circulating IgA leve... |
ORPHA:343 |
Malignant Peritoneal Mesothelioma |
|
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss |
ORPHA:168811 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Hypertension, Ischemic stroke, Dysphagia, Achalasia, Thrombocytopenia |
OMIM:615750 |
Dietary Iron Overload Disease |
|
Hepatic steatosis, Hepatomegaly, Viral hepatitis, Congestive heart failure, Peritonitis, Esophage... |
ORPHA:139507 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,... |
ORPHA:679 |
Immunodeficiency 70 |
|
Furuncle, Decreased circulating total IgG, Celiac disease, Decreased circulating antibody level, ... |
OMIM:618969 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Abnormal large intestine morpholo... |
ORPHA:2198 |
Shigellosis |
|
Anorexia, Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Hypovolemic shock, V... |
ORPHA:810 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein ... |
OMIM:273800 |
American Trypanosomiasis |
|
Hepatomegaly, Aganglionic megacolon, Skin rash, Abnormal large intestine physiology, Abdominal pa... |
ORPHA:3386 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Episcleritis, Pericarditis, Sinusitis, Increased inflammatory respon... |
ORPHA:727 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Short stature, Eczema, Autoimmune thrombocytopenia, Celiac disease, Hepatosplenomegaly, Decreased... |
OMIM:615952 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Short stature, Epistaxis, Intrahepatic cholestasis with episodic jaundice, Splenome... |
OMIM:211600 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dyspepsia, Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Keratitis, Weight loss, Abn... |
ORPHA:1018 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Myocardial infarction, Osteoarthritis, Gastrointestinal infarctions, Abdom... |
ORPHA:342 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Myocardial infarction, Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Dia... |
ORPHA:90038 |
Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Prolonged bleeding time, Impaired ... |
ORPHA:849 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Nausea and vomiting, Anorexia, Abdominal pain, Jaundice, Chronic d... |
ORPHA:65682 |
Deafness-Vitiligo-Achalasia Syndrome |
|
Achalasia, Severe short stature |
ORPHA:3239 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Enterocoliti... |
ORPHA:2686 |
Achalasia-Microcephaly Syndrome |
|
Growth delay, Achalasia |
ORPHA:929 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Feeding difficulties in infancy, Gastroesophageal reflux, Vomiting, Nausea, Eosinophilic infiltra... |
ORPHA:411696 |
Necrotizing Enterocolitis |
|
Shock, Small for gestational age, Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, V... |
ORPHA:391673 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Abdominal colic, Liver abscess, Cholangitis, Overweight, Intrahepa... |
ORPHA:69663 |
Pancreatic Colipase Deficiency |
|
Chronic diarrhea, Growth delay, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreat... |
ORPHA:309108 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abnormality of the gastrointestinal tract, Death in infancy, Nausea and vomiting, Intestinal malr... |
ORPHA:2241 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Intestinal obstruction, Pericarditis, Fasciitis, Myositis, Skin rash, Abdominal pain, Orchitis, S... |
ORPHA:32960 |
Tetrasomy 18P |
|
Achalasia, Syncope |
ORPHA:3307 |
Achalasia-Microcephaly Syndrome |
|
Achalasia |
OMIM:200450 |
Scleromyxedema |
|
Abnormality of the gastrointestinal tract, Transient ischemic attack, Hypoperistalsis, Raynaud ph... |
ORPHA:167635 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Intestinal malrotation, Hypoperistalsis, Cryptorchidism, Hypertension, Pulmonary arterial hyperte... |
OMIM:613834 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Vomiting, Infectious encephalitis, Nausea, Abdominal pain, Hepati... |
ORPHA:36234 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Lymphadenitis, Abnormality... |
ORPHA:2552 |
Mirage Syndrome |
|
Short stature, Cryptorchidism, Esophageal stricture, Chronic diarrhea, Hypoplastic spleen, Intrac... |
OMIM:617053 |
Peritoneal Cystic Mesothelioma |
|
Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation |
ORPHA:168816 |
Glanzmann Thrombasthenia 2 |
|
Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induce... |
OMIM:619267 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Achalasia |
ORPHA:2400 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Death in infancy, Villous atrophy, Malnutrition, Protracted diarrhea, Growth delay, Abnormal inte... |
OMIM:251850 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Biliary atr... |
OMIM:615710 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... |
OMIM:601346 |
Caroli Disease |
|
Liver abscess, Cholangitis, Anorexia, Vomiting, Hepatic fibrosis, Nausea, Hepatomegaly, Portal hy... |
ORPHA:53035 |
Primary Peritoneal Carcinoma |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation |
ORPHA:168829 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Achalasia, Short stature, Decreased response to growth hormone stimulation test |
ORPHA:436174 |
Triple A Syndrome |
|
Anterior hypopituitarism, Achalasia, Short stature |
ORPHA:869 |
Deafness, Congenital, With Vitiligo And Achalasia |
|
Achalasia, Short stature |
OMIM:221350 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Malabsorption, Splenome... |
ORPHA:79301 |
Hereditary Hemorrhagic Telangiectasia |
|
Intestinal polyposis, Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemi... |
ORPHA:774 |
Dystonia-Deafness Syndrome 1 |
|
Small for gestational age, Cleft palate, Pseudobulbar paralysis, Dysphagia, Achalasia |
OMIM:607371 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Portal hypertension, Retinal telangiectasia, Esophageal varix, Growt... |
OMIM:617341 |
Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Death in early adulthood, Short stature, Macroglossia, Dysphagia, Achalasia |
ORPHA:79107 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Ileal atresia, Abdominal distention, Peritonitis, Pyelonephritis, Bidirectional shunt, Elevated p... |
OMIM:619351 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix |
OMIM:617068 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Abdominal pain, Orchitis, Splenomegaly, Diarrhea, Peritonitis, Episod... |
OMIM:249100 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... |
OMIM:619130 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Abdominal distention, Hypoperistalsis |
OMIM:619365 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Ovarian Fibroma |
|
Mesenteric cyst, Ovarian fibroma, Abdominal pain, Abdominal distention, Peritonitis, Abnormality ... |
ORPHA:314473 |
Stuve-Wiedemann Syndrome 2 |
|
Eczema, Congestive heart failure, Death in adolescence, Pulmonary arterial hypertension, Stillbir... |
OMIM:619751 |
Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Hepatomegaly, Splenomegaly, Diarrhea, Jaundice, Esophageal varix, Cirrhosis,... |
ORPHA:75234 |
Meier-Gorlin Syndrome 7 |
|
Anal stenosis, Short stature, Heart block, Cryptorchidism, Cleft palate, Duodenal stenosis, Anter... |
OMIM:617063 |
Ppoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo... |
ORPHA:97278 |
Listeriosis |
|
Liver abscess, Vomiting, Conjunctivitis, Cholecystitis, Infectious encephalitis, Nausea, Abdomina... |
ORPHA:533 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Hypopituitarism, Small for gestational age, Atretic ... |
ORPHA:30391 |
Complement Factor B Deficiency |
|
Peritonitis, Pneumonia |
OMIM:615561 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Peritonitis, Erysipelas, Abdominal pain |
OMIM:134610 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Spider hemangioma, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder,... |
ORPHA:171 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Minimal change glomerulonephritis, Abdominal pain, Pulmonary embolism, Peritonitis, Growth delay |
ORPHA:567548 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Vomiting, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Death in infa... |
OMIM:278000 |
Bleeding Disorder, Platelet-Type, 12 |
|
Impaired platelet aggregation, Intestinal bleeding, Joint hemorrhage, Epistaxis |
OMIM:605735 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Nausea and vomiting, Angina pectoris, Transient... |
ORPHA:324 |
Platelet Signal Processing Defect |
|
Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregat... |
OMIM:173590 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... |
ORPHA:157798 |
Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Short stature, Abdominal distenti... |
ORPHA:1201 |
Wolman Disease |
|
Nausea and vomiting, Hepatomegaly, Cachexia, Splenomegaly, Abdominal distention, Malnutrition, Es... |
ORPHA:75233 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Osteomyelitis, Failure to thrive in infancy, Proportionate short stature, Pustule, Feeding diffic... |
ORPHA:171876 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera... |
ORPHA:64743 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... |
ORPHA:567983 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... |
OMIM:619463 |
Retinitis Pigmentosa 89 |
|
Micronodular cirrhosis, Esophageal varix, Hepatosplenomegaly, Hepatic fibrosis, Intrahepatic bile... |
OMIM:618955 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Growth delay, Absence of intrinsic factor |
OMIM:243320 |
Myotonic Dystrophy 1 |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Feeding difficulties in... |
OMIM:160900 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Orthostatic hypotension, Esophageal stenosis, Feeding difficulties, Dysphagia, Achalasia |
OMIM:615510 |
Grfoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Zollinger-Ellison syndrome, Pheochromocytoma, Hepa... |
ORPHA:97261 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Abnormal left ventricular function, Protein-losing entero... |
OMIM:619991 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Abdominal pain, Zollinger-Ellison syndrome, Stomatitis, Cholelithiasis,... |
ORPHA:438274 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, I... |
OMIM:613812 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Anorexia, Poor appetite, Abno... |
ORPHA:2494 |
Feingold Syndrome 2 |
|
Postnatal growth retardation, Short stature, Intestinal atresia |
OMIM:614326 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Thrombocytopenia, Giant platelet... |
OMIM:231200 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Gastrointestinal angiodysplasia,... |
OMIM:193400 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Abdominal pain, Abdominal distention, Peritonitis, Abnormality of the ovary |
ORPHA:314478 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short stature, Cleft palate, Feeding difficulties, Gastroesophageal reflux, Achalasia |
OMIM:600987 |
Cirrhosis, Familial |
|
Abdominal distention, Jaundice, Micronodular cirrhosis, Esophageal varix, Biliary cirrhosis, Fulm... |
OMIM:215600 |
Glycogen Storage Disease Iv |
|
Portal hypertension, Esophageal varix, Hepatosplenomegaly, Cardiomyopathy, Cirrhosis, Hepatic fai... |
OMIM:232500 |
Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Achalasia, Xerostomia, Rheumatoid arthritis |
OMIM:200400 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Prolonged bleeding time, Epistaxis, Myocardial infarction, Impaired ADP-induced platelet aggregat... |
OMIM:155100 |
Systemic Sclerosis |
|
Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morphology, Barrett esopha... |
ORPHA:90291 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Postnatal growth retardation, Decreased circulating antibody level, Colitis,... |
OMIM:615190 |
Peutz-Jeghers Syndrome |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... |
ORPHA:2869 |
Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Abdominal pain, Rectal prolapse, Bloody diarrhea, Hematochezia, Chronic constipatio... |
ORPHA:209964 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Small intestinal dysmotility, Sinus bradycardia, Feeding difficulties, Chronic constipation, Gast... |
OMIM:619482 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Congestive heart failure, Dilat... |
ORPHA:367 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Intestinal malrotation, Abnormal ... |
ORPHA:3032 |
Immunodeficiency 12 |
|
Short stature, Skin rash, Esophageal stricture, Bronchiectasis, Cheilitis, Death in adolescence, ... |
OMIM:615468 |
Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Epistaxis, Impaired epinephri... |
OMIM:615888 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
Noonan Syndrome 7 |
|
Short stature, Large for gestational age, Feeding difficulties in infancy, Nasogastric tube feedi... |
OMIM:613706 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Splenomegaly, Abnormal platelet function, Thrombocytopenia |
ORPHA:231393 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Achalasia |
OMIM:609033 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom... |
ORPHA:251992 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Neonatal death, Congenital pyloric atresia |
OMIM:612138 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Abnormality of the spleen, P... |
ORPHA:228123 |
Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Impaired collagen-induced platelet a... |
OMIM:614201 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Bronchiectasis, Cirrhosis,... |
OMIM:613490 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Abdominal pain, Peritonitis, Minimal change glomerulonephritis |
ORPHA:656 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Annular pancreas, Tr... |
ORPHA:210122 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Aganglionic megacolon, Decreased heart rate variability, Feeding difficulties, Chronic constipati... |
OMIM:209880 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Arthritis, Gastric ulcer, Gastric hypertrophy |
OMIM:161700 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Esophageal stenosis, Recurrent skin infections, Anal fissure, Esophageal stric... |
ORPHA:89842 |
Fusariosis |
|
Myositis, Sinusitis, Fasciitis, Maculopapular exanthema, Pneumonia, Osteomyelitis, Keratitis, Abn... |
ORPHA:228119 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Impaired T cell function, Splenome... |
OMIM:614576 |
Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Achalasia, Short stature, Orthostatic hypotension |
OMIM:231550 |
Metachromatic Leukodystrophy |
|
Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladde... |
ORPHA:512 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Intrahepatic cholestasis, Diarrhea, J... |
OMIM:602347 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Iridoc... |
OMIM:240300 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... |
OMIM:600803 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Splenomegaly, Diarrhea, Esophageal va... |
ORPHA:264580 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Feeding difficulties, Esophagitis, In... |
OMIM:615356 |
Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Macrothrombocytopenia, Absence o... |
OMIM:187900 |
Nocardiosis |
|
Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Anorexia, Keratitis, Lymphadenitis, Perito... |
ORPHA:31204 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Short stature, Perianal... |
ORPHA:2968 |
Bronchogenic Cyst |
|
Abnormal peritoneum morphology, Pneumonia, Abnormal stomach morphology, Abdominal pain, Dysphagia... |
ORPHA:2357 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Neonatal death, Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho... |
ORPHA:2978 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... |
OMIM:619079 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Short stature, Eczema, Celiac disease, Postnatal growth retardation, Increased circulating IgE le... |
OMIM:618985 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Tachycardia, Abdominal colic, Nausea, Abdominal pain, Anorexia, Pa... |
ORPHA:521219 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Athrombia, Essential |
|
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion |
OMIM:209050 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Telangiectasia of the skin, Short stature, Decreased response to growth hormone stimulation test,... |
OMIM:616007 |
Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Portal hypertension, Splenomegaly, Esophageal varix, Hepatic fibrosis |
OMIM:616589 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Achalasia, Dysphagia |
OMIM:300858 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hematochezia, Cholestatic liver disease, Cho... |
ORPHA:79095 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... |
OMIM:277320 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, High-output congestive heart failure,... |
ORPHA:231222 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Vomiting, Hepatic fibrosis, Intrahepatic bile duct dil... |
OMIM:301068 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Neoplasm of ... |
ORPHA:44890 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Small for gestational age, Feeding difficulties in infancy, Bradyca... |
OMIM:618775 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Achalasia, Dysphagia |
ORPHA:289483 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Hematemesis, Pancreatic cysts, Splenomegaly, Esophageal varix,... |
OMIM:263200 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea... |
ORPHA:263665 |
Mgat2-Cdg |
|
Failure to thrive, Gastroparesis, Decreased circulating antibody level, Feeding difficulties, Gas... |
ORPHA:79329 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Intracranial hemorrhage, Inflammation of the large intestine, Conjunctivitis, Hypoplas... |
ORPHA:906 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Spontaneous esophageal perforation, Esophageal stricture, Malnutrition, Growth delay, Constipatio... |
OMIM:226600 |
Beta-Thalassemia |
|
Hepatomegaly, Splenomegaly, Hepatitis, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia |
ORPHA:848 |
Reynolds Syndrome |
|
Hepatomegaly, Telangiectasia of the skin, Skin rash, Abnormal gastric mucosa morphology, Jaundice... |
ORPHA:779 |
Sialuria |
|
Elevated hepatic transaminase, Hepatomegaly, High, narrow palate, Hepatosplenomegaly, Episodic ab... |
ORPHA:3166 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Hepatomegaly, Portal hype... |
ORPHA:480520 |
Mednik Syndrome |
|
Death in infancy, Jejunal atresia, Diarrhea, Cholestasis, Growth delay, Hepatic fibrosis, Cirrhos... |
OMIM:609313 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix,... |
OMIM:216360 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis, Failure to thrive, Projectile vomiting |
OMIM:179010 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Postnatal growth retardation, ... |
ORPHA:79303 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Death in infancy, Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal ma... |
OMIM:243150 |
Fanconi Anemia, Complementation Group Q |
|
Short stature, Esophageal atresia, Biliary atresia, Anteriorly placed anus, Growth delay, Bone ma... |
OMIM:615272 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Death in infancy, Cryptorchidism, Diarrhea, Abdominal distention, Cholestasis, Prot... |
OMIM:608104 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Increased circulating IgE level, Bronchiectasis, ... |
ORPHA:1163 |
Bleeding Disorder, Platelet-Type, 8 |
|
Impaired ADP-induced platelet aggregation, Epistaxis |
OMIM:609821 |
Ataxia-Pancytopenia Syndrome |
|
Splenomegaly, Abnormal platelet function, Decreased circulating antibody level |
ORPHA:2585 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Chronic ... |
OMIM:209920 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Feeding di... |
OMIM:300048 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Intestinal obstruction, Pulmonary embolism, Malabsorption, Abdominal pain, Diarrhea... |
OMIM:226300 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation, Epistaxis |
OMIM:614009 |
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 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Abdominal pain, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnorma... |
ORPHA:234 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain |
OMIM:619182 |
Bleeding Disorder, Platelet-Type, 21 |
|
Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Impaired ADP-induced platelet ag... |
OMIM:617443 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ... |
ORPHA:324636 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Short stature, Esophageal stricture, Chronic diarrhea, Dilated cardiomyopathy, Hepatic fibrosis, ... |
OMIM:613989 |
Syndromic Recessive X-Linked Ichthyosis |
|
Testicular seminoma, Cryptorchidism, Short stature, Abnormal stomach morphology |
ORPHA:281090 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, Short stature, Cryptorchidism, Rectal atresia, Neonatal death, Ana... |
OMIM:613390 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Short stature, Small for gestational age, Postnatal growth retardation, Pyloric stenosis, Cryptor... |
ORPHA:96184 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Autoimmune thromboc... |
ORPHA:436159 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Eczema, Cirrhosis, Decreased liver function |
ORPHA:79278 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Impaired platelet aggregation, Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
Cryptococcosis |
|
Osteomyelitis, Pneumonia, Peritonitis, Vomiting, Cirrhosis, Prostatitis |
ORPHA:1546 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Esophageal stricture, Crusting erythematous dermatitis, Telangiectasia |
ORPHA:158673 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... |
OMIM:174900 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Short stature, Cryptorchidism, Furrowed tongue, High palate, Decreased body weight, Cholelithiasi... |
OMIM:300534 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente... |
ORPHA:731 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Autoimmune thrombocytopenia, S... |
OMIM:616100 |
Hyperbiliverdinemia |
|
Cholelithiasis, Decreased liver function, Cholestasis |
OMIM:614156 |
Triosephosphate Isomerase Deficiency |
|
Death in infancy, Congestive heart failure, Jaundice, Splenomegaly, Death in adolescence, Cholecy... |
OMIM:615512 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Lysosomal Acid Lipase Deficiency |
|
Microvesicular hepatic steatosis, Vomiting, Hepatic fibrosis, Abdominal pain, Hypovolemia, Hepato... |
ORPHA:275761 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Short stature, Growth delay, Decreased body weight, Cholelithiasis... |
OMIM:614886 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Prolonged bleeding time, Absent platelet dense granules, Reduced natural killer cel... |
OMIM:608233 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Giant platelets, Decr... |
ORPHA:274 |
Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platelet aggregation, Thr... |
OMIM:187800 |
Gray Platelet Syndrome |
|
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal numb... |
OMIM:139090 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Splenomegaly, Chronic diarrhea, Feeding difficulties, Macroglossia, Gastroesophagea... |
OMIM:618268 |
Hereditary Spherocytosis |
|
Hepatomegaly, Maculopapular exanthema, Abdominal pain, Splenomegaly, Jaundice, Abdominal distenti... |
ORPHA:822 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Failure to thrive, Small for gestational age, Intestinal malrotation, Biliary atresia, Feeding di... |
ORPHA:2255 |
Cerebrotendinous Xanthomatosis |
|
Angina pectoris, Myocardial infarction, Diarrhea, Pseudobulbar paralysis, Cholelithiasis |
OMIM:213700 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero... |
OMIM:617394 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Abdominal pain, Raynaud phenomenon, Vas... |
OMIM:615688 |
22Q11.2 Deletion Syndrome |
|
Impaired T cell function, Feeding difficulties in infancy, Anorectal anomaly, Gastroesophageal re... |
ORPHA:567 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation |
OMIM:618462 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Colonic diverticula, Hypertension, Mitral regurgitation, Hepatic cysts |
OMIM:173900 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure, Eczema |
OMIM:177000 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Splenomegaly, Jaundice, Cholecysti... |
OMIM:613470 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Cachexia, Abnormality of the spleen, Splenomegaly, Esophageal v... |
ORPHA:2072 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Cholelithiasis |
OMIM:300752 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Malformation of t... |
OMIM:208540 |
Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Plummer-Vinson Syndrome |
|
Tongue atrophy, Poor appetite, Abdominal pain, Cheilitis, Esophageal web, Dysphagia, Glossitis |
ORPHA:54028 |
Alpha-Thalassemia |
|
Hypersplenism, Splenomegaly, Jaundice, Cholelithiasis |
ORPHA:846 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Death in early adulthood, Intestinal pseudo-obstruction, Gastroparesis, Cach... |
OMIM:603041 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Failure to thrive, Superficial dermal perivascular inflammatory infiltrate, Eczema,... |
ORPHA:83617 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Prolonged bleeding time, Epistaxis, Impaired platelet aggregation, Abnormal dense granule content... |
OMIM:601399 |
Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Bone marrow hypocellularity, Intrauterine growth retardation, Esophageal stenosis, Oral leukoplakia |
OMIM:616553 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... |
ORPHA:84081 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Portal hypertension, Congenital hepatic fibrosis, Esophageal varix, ... |
ORPHA:974 |
Isolated Congenital Alacrima |
|
Keratitis, Lacrimal gland hypoplasia, Achalasia, Conjunctivitis |
ORPHA:91416 |
Von Willebrand Disease, Type 3 |
|
Prolonged bleeding time, Epistaxis, Joint hemorrhage, Impaired platelet aggregation, Thrombocytop... |
OMIM:277480 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Hypersplenism, Splenomegaly, Esophageal varix, Pulmonic stenosis, Pulmona... |
OMIM:616028 |
Immunodeficiency 17 |
|
Death in infancy, Eczema, Chronic diarrhea, Chronic decreased cirulating IgG2, Death in childhood... |
OMIM:615607 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Esophageal stricture, Short stature, Dysphagia |
OMIM:616029 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Abdominal pain, Rectal prolapse, Biliary tract abnorma... |
OMIM:175200 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Small for gestational age, Elevated circulating alanine aminotransferase conc... |
OMIM:618500 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Short stature, Eczema, Abdominal pain, Celiac disease, Postnatal g... |
OMIM:212750 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis |
OMIM:605479 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia... |
OMIM:603585 |
Barrett Esophagus |
|
Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux |
OMIM:614266 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Skin rash, Glomerulonephritis, Synovitis, Hypertension, Arthritis, Serositis |
ORPHA:567544 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Failure to thrive, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnor... |
ORPHA:2538 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Intrauterine growth retardation, Cholelithiasis |
OMIM:266200 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... |
ORPHA:70475 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Short stature, Intestinal malrotation, Portal hypertension, Small ... |
OMIM:613658 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia, Death in infancy |
OMIM:226730 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Short stature, Bilateral cryptorchidism, Esophageal atresia, Tracheoesophageal fistula, Neonatal ... |
OMIM:619859 |
Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Gastric ulcer, Decreased circulating antibody level |
OMIM:604928 |
Hermansky-Pudlak Syndrome 9 |
|
Thrombocytopenia, Recurrent skin infections, Abnormal platelet aggregation |
OMIM:614171 |
Septo-Optic Dysplasia Spectrum |
|
Short stature, Anterior pituitary hypoplasia, Esophageal atresia, Cryptorchidism, Tracheoesophage... |
ORPHA:3157 |
Blue Rubber Bleb Nevus |
|
Rectal prolapse, Abnormality of the liver, Intestinal bleeding, Volvulus, Intussusception, Thromb... |
OMIM:112200 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Failure to thrive, Intestinal malrotation, Biliary atresia, Pulmonic stenosis... |
OMIM:600001 |
Non-Syndromic Posterior Hypospadias |
|
Small for gestational age, Esophageal atresia, Cryptorchidism, Cleft palate, Anal atresia |
ORPHA:95706 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Afibrinogenemia, Congenital |
|
Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Subdural hemorrha... |
OMIM:202400 |
Sickle Cell Disease |
|
Hepatomegaly, Abdominal pain, Splenomegaly, Jaundice, Splenic infarction, Hypertension, Cholelith... |
OMIM:603903 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Esophageal stricture, Pancolitis, Inflammation of the large intestine, Bone marrow hypocellularit... |
OMIM:620133 |
Immunodeficiency 23 |
|
Membranoproliferative glomerulonephritis, Eczema, Allergic rhinitis, Esophageal stricture, Increa... |
OMIM:615816 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Esophageal stenosis, Telangiectasia of the skin, Short st... |
ORPHA:1775 |
Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Esophageal atresia, Tracheoesophageal fistula |
OMIM:189960 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... |
ORPHA:329971 |
Intrinsic Factor Deficiency |
|
Absence of intrinsic factor |
OMIM:261000 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Elevated hepatic transaminase, Nausea and vom... |
ORPHA:36426 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
ORPHA:309854 |
Bohring-Opitz Syndrome |
|
Short stature, Feeding difficulties in infancy, Cleft palate, Vomiting, Bradycardia, Severe failu... |
ORPHA:97297 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
High, narrow palate, Recurrent pneumonia, Cleft palate, Furrowed tongue, Constipation, Pulmonary ... |
ORPHA:464738 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impaired ADP-induced p... |
OMIM:153670 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Duodenal polyposis, Pancreatic adenocarcinoma, Stomach cancer, Goiter, Pituit... |
ORPHA:733 |
Urachal Cyst |
|
Peritonitis, Abdominal pain |
ORPHA:488 |
Trisomy 8P |
|
Cryptorchidism, Malrotation of small bowel, Heart murmur, Cleft palate, Constipation, Aplasia/Hyp... |
ORPHA:264450 |
Immunodeficiency 81 |
|
Recurrent cutaneous abscess formation, Skin rash, Reduced natural killer cell activity, Reduced a... |
OMIM:619374 |
Meckel Syndrome, Type 2 |
|
Intrauterine growth retardation, Bile duct proliferation, Intestinal malrotation, Cleft palate |
OMIM:603194 |
Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Impaired platelet aggregation, Epistaxis |
OMIM:614076 |
Porphyria, Congenital Erythropoietic |
|
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Increased fecal coproporphyrin 1, Conjunctiv... |
OMIM:263700 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Anorexia, Pulmonary emb... |
ORPHA:394 |
Trisomy 10P |
|
Absent gallbladder, Small for gestational age, Growth delay, Gastroesophageal reflux, High palate... |
ORPHA:171929 |
Steinert Myotonic Dystrophy |
|
Intestinal pseudo-obstruction, Prolonged QRS complex, Decreased response to growth hormone stimul... |
ORPHA:273 |
Zttk Syndrome |
|
Aortic regurgitation, Absent gallbladder, Short stature, Feeding difficulties in infancy, Submuco... |
OMIM:617140 |
Methimazole Embryofetopathy |
|
Esophageal atresia, Tracheoesophageal fistula, Intrauterine growth retardation |
ORPHA:1923 |
Abcd Syndrome |
|
Neonatal death, Large for gestational age, Aganglionic megacolon, Total intestinal aganglionosis |
OMIM:600501 |
Cimdag Syndrome |
|
Death in early adulthood, Hepatomegaly, Microvesicular hepatic steatosis, Feeding difficulties, C... |
OMIM:619273 |
Glycogen Storage Disease Vii |
|
Cholelithiasis, Jaundice, Gout |
OMIM:232800 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Esophageal diverticulum, Hamartoma of tongue, Cleft palate, Neonatal death, A... |
OMIM:617925 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Psoriasiform dermatitis, Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Ga... |
ORPHA:436252 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Esophageal atresia, Tracheoesophageal fistula, Growth delay, Intrauterine growt... |
OMIM:300514 |
Quebec Platelet Disorder |
|
Joint hemorrhage, Epistaxis, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Sickle Cell Anemia |
|
Pigment gallstones, Osteomyelitis, Abnormality of the spleen, Cholestasis, Thrombocytosis |
ORPHA:232 |
Platelet Disorder, Undefined |
|
Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Obesity, Cleft palate, Hepatosplenomegaly, Chronic constipation, Cholecystitis, Rec... |
OMIM:301066 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... |
ORPHA:562639 |
Noonan Syndrome |
|
Hepatomegaly, Short stature, Feeding difficulties in infancy, Abnormality of the spleen, Cryptorc... |
ORPHA:648 |
Feingold Syndrome |
|
Short stature, Esophageal atresia, Abnormality of the spleen, Annular pancreas, Duodenal atresia |
ORPHA:1305 |
Progeroid Short Stature With Pigmented Nevi |
|
Short stature, Allergic rhinitis, Impaired T cell function, Small for gestational age, Allergic c... |
OMIM:176690 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Portal hypertension, Increased circulating IgA level, Celiac disease, Ab... |
ORPHA:186 |
Fg Syndrome Type 1 |
|
Short stature, Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Crypt... |
ORPHA:93932 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Growth delay, Esophageal stricture, Gastrointestinal inflammation |
ORPHA:79409 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Jaundice, Cholelithiasis, Cholecystitis |
OMIM:235700 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Cleft palate, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis... |
OMIM:612284 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Sinusitis, Liver abscess, Eczema, Malabsorption, Pyloric stenosis, Splenomegaly, Tr... |
ORPHA:379 |
Hermansky-Pudlak Syndrome 5 |
|
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... |
OMIM:614074 |
Hereditary Elliptocytosis |
|
Abdominal pain, Postnatal growth retardation, Splenomegaly, Jaundice, Prolonged neonatal jaundice... |
ORPHA:288 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Esophageal atresia, Tracheoesophageal fistula, Anal atresia |
OMIM:314390 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Abdominal symptom, Short stature, Decreased response to growth hormone sti... |
ORPHA:79443 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Pancreatitis... |
OMIM:155310 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Small for gestational age, High palate, Intrauterine growth retardation, Panc... |
ORPHA:556955 |
Leiomyoma Of Vulva And Esophagus |
|
Esophageal obstruction |
OMIM:150700 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... |
ORPHA:209902 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Short stature, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferas... |
OMIM:611881 |
Dehydrated Hereditary Stomatocytosis |
|
Abdominal pain, Portal vein thrombosis, Splenomegaly, Intermittent jaundice, Pulmonary venous hyp... |
ORPHA:3202 |
Williams Syndrome |
|
Myocardial infarction, Rectal prolapse, Gastroesophageal reflux, Chronic otitis media, Short stat... |
ORPHA:904 |
Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Feeding difficulties in infancy, Esophageal atresia, High palate, Bifid uvula |
OMIM:618779 |
Triploidy |
|
Hepatomegaly, Intestinal malrotation, Abnormality of the pancreas, Cryptorchidism, Abnormality of... |
ORPHA:3376 |
Chédiak-Higashi Syndrome |
|
Elevated hepatic transaminase, Recurrent bacterial skin infections, Skin rash, Epistaxis, Splenom... |
ORPHA:167 |
Distal Duplication 5Q |
|
Cryptorchidism, Eczema, Short stature, Aplasia/Hypoplasia of the gallbladder |
ORPHA:96097 |
Hermansky-Pudlak Syndrome 6 |
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Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Abnormal platelet granules, E... |
OMIM:614075 |
Kindler Syndrome |
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Anal stenosis, Esophageal stenosis, Telangiectasia of the skin, Periodontitis, Dysphagia, Oral le... |
OMIM:173650 |
Wilson Disease |
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Acute hepatic failure, Hepatomegaly, Hypoparathyroidism, Elevated circulating aspartate aminotran... |
OMIM:277900 |
Bannayan-Riley-Ruvalcaba Syndrome |
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Intestinal polyposis, Angina pectoris, Short stature, Abnormal large intestine morphology, Cachex... |
ORPHA:109 |
Digeorge Syndrome |
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Impaired T cell function, High, narrow palate, Parathyroid hypoplasia, High palate, Gastroesophag... |
OMIM:188400 |
Chronic Graft Versus Host Disease |
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Elevated hepatic transaminase, Fasciitis, Anorexia, Abdominal pain, Urinary bladder inflammation,... |
ORPHA:99921 |
8P Inverted Duplication/Deletion Syndrome |
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High, narrow palate, Aplasia/Hypoplasia of the gallbladder, Cryptorchidism |
ORPHA:96092 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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Absent gallbladder, Short stature, Cryptorchidism, Heart murmur, Cleft palate, Intracranial hemor... |
ORPHA:163979 |
Juvenile Polyposis Syndrome |
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Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... |
ORPHA:2929 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
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Growth delay, Esophageal atresia, Tracheoesophageal fistula, Cryptorchidism |
ORPHA:77298 |
Cartilage-Hair Hypoplasia |
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Anal stenosis, Aganglionic megacolon, Absent pubertal growth spurt, Malabsorption, Esophageal atr... |
OMIM:250250 |
Benign Schwannoma |
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Intestinal polyposis, Abnormality of the liver, Abnormal parotid gland morphology, Abnormal esoph... |
ORPHA:252164 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
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Hepatomegaly, Short stature, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Neoplasm o... |
ORPHA:77293 |
Spherocytosis, Type 1 |
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Splenomegaly, Jaundice, Cholelithiasis |
OMIM:182900 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis |
OMIM:194380 |
Metachromatic Leukodystrophy, Adult Form |
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Bowel incontinence, Abdominal distention, Cholecystitis, Neoplasm of the gallbladder, Orthostatic... |
ORPHA:309271 |
Hermansky-Pudlak Syndrome 11 |
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Reduced platelet dense granules, Epistaxis, Impaired collagen-induced platelet aggregation |
OMIM:619172 |
Arima Syndrome |
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Hepatomegaly, Esophageal varix, Growth delay, Hypertension, Hepatic fibrosis, Cirrhosis, Hepatic ... |
OMIM:243910 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
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Short stature, Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Duoden... |
OMIM:619227 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
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Esophageal stricture, Hepatic fibrosis, Bone marrow hypocellularity, Oral leukoplakia, Thrombocyt... |
OMIM:224230 |
Gallbladder Neuroendocrine Tumor |
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Anorexia, Biliary tract neoplasm, Abdominal distention, Extrahepatic cholestasis, Intermittent ja... |
ORPHA:100086 |
Rhombencephalosynapsis |
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Esophageal atresia, Aganglionic megacolon, Tracheoesophageal fistula, Anal atresia |
ORPHA:59315 |
Bartter Syndrome, Type 2, Antenatal |
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Short stature, Small for gestational age, Diarrhea, Low-to-normal blood pressure, Constipation, V... |
OMIM:241200 |
Chromosome 17Q12 Duplication Syndrome |
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Esophageal atresia, Cleft soft palate |
OMIM:614526 |
Apert Syndrome |
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Feeding difficulties in infancy, Esophageal atresia, Cleft palate, Narrow palate, Ovarian neoplas... |
ORPHA:87 |
Sitosterolemia 1 |
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Abdominal pain, Splenomegaly, Giant platelets, Arthritis, Impaired platelet aggregation, Thromboc... |
OMIM:210250 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Absent gallbladder, Transient ischemic attack, Gastroparesis, Proportionate short stature, Failur... |
ORPHA:500150 |
Lathosterolosis |
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Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Intrahepatic... |
OMIM:607330 |
Feingold Syndrome Type 1 |
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Jejunal atresia, Tricuspid stenosis, Short stature, Esophageal atresia, Gastrointestinal atresia,... |
ORPHA:391641 |
Glycogen Storage Disease Ixc |
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Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Splenomegaly, Growth d... |
OMIM:613027 |
Meckel Syndrome, Type 3 |
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Hepatomegaly, Malformation of the hepatic ductal plate, Cleft palate, Bile duct proliferation, He... |
OMIM:607361 |
Attenuated Familial Adenomatous Polyposis |
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Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... |
ORPHA:220460 |
Tetrasomy 9P |
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Absent gallbladder, Pericarditis, Myositis, Raynaud phenomenon, Cryptorchidism, Jaundice, Biliary... |
ORPHA:3310 |
Hermansky-Pudlak Syndrome 8 |
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Impaired platelet aggregation, Epistaxis |
OMIM:614077 |
Craniofacioskeletal Syndrome |
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Absent gallbladder, Short stature, Cryptorchidism, Cleft palate, Intrauterine growth retardation |
OMIM:300712 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
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Feeding difficulties in infancy, Esophageal atresia, Short stature, Cleft palate |
OMIM:610536 |
Pentalogy Of Cantrell |
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Absent gallbladder, Polysplenia, Cleft palate |
ORPHA:1335 |
Drug-Induced Lupus Erythematosus |
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Pericarditis, Prolonged QTc interval, Malar rash, Serositis, Thrombocytopenia |
ORPHA:231111 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Anterior pituitary hypoplasia, Gastroesophageal reflux, Hepatic fibrosis, Neonatal death, Intrahe... |
OMIM:619534 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
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Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Distal Deletion 12Q |
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Late onset atopic dermatitis, Short stature, Failure to thrive in infancy, Unilateral cryptorchid... |
ORPHA:96149 |
Feingold Syndrome 1 |
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Accessory spleen, Jejunal atresia, Tricuspid stenosis, Asplenia, Esophageal atresia, Gastrointest... |
OMIM:164280 |
Combined Oxidative Phosphorylation Deficiency 37 |
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Elevated hepatic transaminase, Feeding difficulties, Prolonged prothrombin time, Bile duct prolif... |
OMIM:618329 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Pulmonary insufficiency, Intestinal malrotation, Asplenia, Esophageal atresia, Tracheoesophageal ... |
OMIM:265380 |
Fryns Syndrome |
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Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Large for gestational a... |
OMIM:229850 |
Fanconi Anemia, Complementation Group D2 |
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Short stature, Small for gestational age, Esophageal atresia, Cryptorchidism, Tracheoesophageal f... |
OMIM:227646 |
Fanconi Anemia, Complementation Group L |
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Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Feeding difficulties, Growth delay, ... |
OMIM:614083 |
Congenital Tracheomalacia |
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Pneumonia, Esophageal atresia, Bronchiectasis, Tracheoesophageal fistula, Feeding difficulties, G... |
ORPHA:95430 |
Nephronophthisis 19 |
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Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Impaired platelet aggregation, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:300835 |
Peters-Plus Syndrome |
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Rhizomelia, Bilobate gallbladder, Postnatal growth retardation, Cryptorchidism, Feeding difficult... |
OMIM:261540 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
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Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:187300 |
Trisomy 18 |
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Short stature, Cachexia, Esophageal atresia, Cryptorchidism, Narrow palate, Cleft palate, Growth ... |
ORPHA:3380 |
Congenital Tracheal Stenosis |
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Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... |
ORPHA:141127 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Recurrent skin infections, Pneumonia, Esophageal stricture, Dilated cardiomyopathy, Malnutrition,... |
ORPHA:79404 |
Ring Chromosome 13 Syndrome |
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Growth delay, Hypoplasia of the gallbladder, High palate, Anal atresia |
ORPHA:96176 |
Apert Syndrome |
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Acne, Pyloric stenosis, Esophageal atresia, Cryptorchidism, Narrow palate, Cleft palate, Rhizomel... |
OMIM:101200 |
Steinfeld Syndrome |
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Absent gallbladder, Bifid uvula, Median cleft lip and palate |
OMIM:184705 |
Vacterl With Hydrocephalus |
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Cryptorchidism, Esophageal atresia, Tracheoesophageal fistula, Intrauterine growth retardation, A... |
ORPHA:3412 |
Kindler Epidermolysis Bullosa |
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Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... |
ORPHA:2908 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
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Neonatal death, Abdominal distention, Microcolon |
OMIM:619362 |
Cerebrotendinous Xanthomatosis |
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Cholelithiasis, Chronic diarrhea, Prolonged neonatal jaundice |
ORPHA:909 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
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Recurrent skin infections, Anal fissure, Glomerulonephritis, Dilated cardiomyopathy, Malnutrition... |
ORPHA:79408 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
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Nausea and vomiting, Recurrent skin infections, Urinary bladder inflammation, Abdominal distentio... |
ORPHA:79403 |
Hyper-Igd Syndrome |
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Skin rash, Increased circulating IgA level, Abdominal pain, Lymphadenitis, Diarrhea, Chronic diar... |
OMIM:260920 |
Van Esch-O'Driscoll Syndrome |
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Short stature, Esophageal atresia, Tracheoesophageal fistula, Feeding difficulties, Growth delay,... |
OMIM:301030 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... |
OMIM:619525 |
Meckel Syndrome, Type 4 |
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Intrauterine growth retardation, Bile duct proliferation, Cleft palate |
OMIM:611134 |
Meckel Syndrome, Type 5 |
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Bile duct proliferation, Cleft palate |
OMIM:611561 |
Microphthalmia, Syndromic 3 |
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Short stature, Anterior pituitary hypoplasia, Postnatal growth retardation, Esophageal atresia, C... |
OMIM:206900 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Death in infancy, Polycystic liver disease, Short stature, Pancreatic fibrosis, Pancreatic cysts,... |
OMIM:208500 |
Dyskeratosis Congenita, X-Linked |
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Decreased testicular size, Short stature, Thrombocytopenia, Esophageal stricture, Cryptorchidism,... |
OMIM:305000 |
Maternal Phenylketonuria |
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Esophageal atresia, High palate, Intrauterine growth retardation |
ORPHA:2209 |
Cranioectodermal Dysplasia 2 |
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Elevated hepatic transaminase, Hepatomegaly, Rhizomelia, Short stature, Cholangitis, Splenomegaly... |
OMIM:613610 |
D-Bifunctional Protein Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Feeding difficulties in infancy, Splenomegaly, Chole... |
OMIM:261515 |
Meckel Syndrome, Type 7 |
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Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d... |
OMIM:267010 |
Gabriele-De Vries Syndrome |
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Small for gestational age, Decreased response to growth hormone stimulation test, Oral-pharyngeal... |
ORPHA:506358 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Decreased response to growth hormone stimulation test, High palate, Chronic otitis media, Hepatic... |
OMIM:619503 |
Viss Syndrome |
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Chronic gastritis, Epidural hemorrhage, High, narrow palate, Increased circulating IgG level, Hig... |
OMIM:619472 |
Vater/Vacterl Association |
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Postnatal growth retardation, Esophageal atresia, Tracheoesophageal fistula, Intrauterine growth ... |
OMIM:192350 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
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Abdominal distention, Vomiting, Congenital pyloric atresia |
ORPHA:158684 |
Systemic Lupus Erythematosus |
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Lupus nephritis, Raynaud phenomenon, Discoid lupus rash, Cheilitis, Hypertension, Arthritis, Mala... |
ORPHA:536 |
Meckel Syndrome, Type 1 |
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Accessory spleen, Intestinal malrotation, Malformation of the hepatic ductal plate, Asplenia, Spl... |
OMIM:249000 |
Alström Syndrome |
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Decreased response to growth hormone stimulation test, Hypoplasia of the Leydig cells, Gastroesop... |
ORPHA:64 |
Charge Syndrome |
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Hypoparathyroidism, Anal stenosis, Decreased response to growth hormone stimulation test, Postnat... |
OMIM:214800 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... |
OMIM:203700 |
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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Esophageal atresia, Congenital hepatic fibrosis, Cryptorchidism, Abdominal distention, Ectopic an... |
ORPHA:93271 |
Joubert Syndrome 6 |
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Bile duct proliferation, Hepatic fibrosis |
OMIM:610688 |