Autism, Susceptibility To, 20 |
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Impaired social interactions |
OMIM:618830 |
Hereditary Geniospasm |
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Abnormal social behavior |
ORPHA:53372 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
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Abnormal social behavior |
ORPHA:436151 |
Low Phospholipid-Associated Cholelithiasis |
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Elevated hepatic transaminase, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, ... |
ORPHA:69663 |
Gallbladder Disease 1 |
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Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... |
OMIM:600803 |
Chronic Atrial And Intestinal Dysrhythmia |
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Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
Budd-Chiari Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ... |
ORPHA:131 |
Atrial Standstill |
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Ventricular escape rhythm, Cardiac conduction abnormality, Dyspnea, Atrial standstill, Congestive... |
ORPHA:1344 |
Atrial Fibrillation, Familial, 18 |
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Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
Brugada Syndrome |
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Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Metachromatic Leukodystrophy |
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Gallbladder dysfunction, Cholecystitis |
OMIM:250100 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
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Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Long Qt Syndrome 15 |
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Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Somatostatinoma |
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Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Intrahepatic cholestasis, Ex... |
ORPHA:97283 |
Hereditary Hemorrhagic Telangiectasia |
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Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... |
ORPHA:774 |
Triosephosphate Isomerase Deficiency |
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Respiratory distress, Respiratory insufficiency due to muscle weakness, Splenomegaly, Jaundice, C... |
OMIM:615512 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:613470 |
Familial Short Qt Syndrome |
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Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Gallbladder Neuroendocrine Tumor |
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Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Cholecystit... |
ORPHA:100086 |
Q Fever |
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Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Pericarditis, Pneumonia, Splen... |
ORPHA:781 |
11Q22.2Q22.3 Microdeletion Syndrome |
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Abnormal social behavior |
ORPHA:444002 |
Intrahepatic Cholestasis Of Pregnancy |
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Elevated hepatic transaminase, Neonatal respiratory distress, Small for gestational age, Abnormal... |
ORPHA:69665 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
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Splenomegaly, Jaundice, Cholelithiasis, Cholecystitis |
OMIM:235700 |
Hsd10 Disease |
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Abnormal social behavior |
ORPHA:391417 |
Pyruvate Kinase Deficiency Of Red Cells |
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Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:266200 |
Tako-Tsubo Cardiomyopathy |
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Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ... |
ORPHA:66529 |
Progressive Familial Heart Block, Type Ib |
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Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Short Qt Syndrome 2 |
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Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Fucosidosis |
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Hepatomegaly, Failure to thrive, Abnormality of the gallbladder |
ORPHA:349 |
Peutz-Jeghers Syndrome |
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Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the gallbladder, Gastrointestin... |
ORPHA:2869 |
Female Restricted Epilepsy With Intellectual Disability |
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Abnormal social behavior |
ORPHA:101039 |
Triploidy |
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Hepatomegaly, Abnormality of the gallbladder, Abnormality of the pancreas |
ORPHA:3376 |
Gaisböck Syndrome |
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Angina pectoris, Myocardial infarction, Overweight, Splenomegaly, Dyspnea, Hypovolemia, Obesity, ... |
ORPHA:90041 |
Rett Syndrome |
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Failure to thrive, Abnormal pattern of respiration, Cholecystitis |
ORPHA:778 |
Crimean-Congo Hemorrhagic Fever |
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Bundle branch block, Abnormal left ventricular function, Cholecystitis, Internal hemorrhage, Hepa... |
ORPHA:99827 |
Glycogen Storage Disease Xii |
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Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferase concentration... |
OMIM:611881 |
Neutral Lipid Storage Myopathy |
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Elevated hepatic transaminase, Hepatomegaly, Chronic pancreatitis, Congestive heart failure, Obes... |
ORPHA:98908 |
Genitopalatocardiac Syndrome |
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Abnormal mesentery morphology, Abnormality of the gallbladder |
ORPHA:2075 |
Listeriosis |
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Respiratory distress, Pericarditis, Liver abscess, Pneumonia, Congestive heart failure, Jaundice,... |
ORPHA:533 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
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Viral hepatitis, Liver abscess, Pneumonia, Allergic rhinitis, Cholangitis, Asthma, Recurrent pneu... |
ORPHA:183675 |
Kawasaki Disease |
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Pericarditis, Congestive heart failure, Jaundice, Vasculitis, Myocarditis, Hepatitis, Cholecystit... |
ORPHA:2331 |
Vacterl/Vater Association |
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Abnormality of the pancreas, Abnormality of the gallbladder |
ORPHA:887 |
Lamb-Shaffer Syndrome |
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Abnormal social behavior |
ORPHA:530983 |
Metachromatic Leukodystrophy, Adult Form |
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Cholecystitis, Orthostatic hypotension due to autonomic dysfunction, Neoplasm of the gallbladder |
ORPHA:309271 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Hepatomegaly, Obesity, Hepatosplenomegaly, Cholecystitis, Cholelithiasis |
OMIM:301066 |
Anterior Cutaneous Nerve Entrapment Syndrome |
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Allodynia, Decreased body weight |
ORPHA:51890 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Cholecystitis |
ORPHA:309256 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Cholecystitis |
ORPHA:309263 |
Igg4-Related Kidney Disease |
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Pericarditis, Retroperitoneal fibrosis, Abnormal mesentery morphology, Weight loss, Sclerosing ch... |
ORPHA:449395 |
Childhood Absence Epilepsy |
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Abnormal social behavior |
ORPHA:64280 |
Wolf-Hirschhorn Syndrome |
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Failure to thrive, Abnormality of the gallbladder, Abdominal situs inversus |
ORPHA:280 |
Early-Onset Autosomal Dominant Alzheimer Disease |
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Abnormal social behavior |
ORPHA:1020 |
48,Xxxy Syndrome |
|
Abnormal social behavior |
ORPHA:96263 |
Smith-Lemli-Opitz Syndrome |
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Abnormality of the gallbladder |
ORPHA:818 |
Fg Syndrome Type 1 |
|
Abnormal social behavior |
ORPHA:93932 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
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Slender build, Allodynia, Cachexia, Weight loss |
OMIM:603041 |
Complex Regional Pain Syndrome |
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Allodynia |
ORPHA:83452 |
Prader-Willi Syndrome Due To Translocation |
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Abnormal social behavior, Impaired social interactions |
ORPHA:177907 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Abnormal social behavior, Inappropriate laughter, Overfriendliness |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Abnormal social behavior, Inappropriate laughter, Overfriendliness |
ORPHA:363958 |
Benign Schwannoma |
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Abnormality of the liver, Allodynia |
ORPHA:252164 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Abnormal social behavior |
ORPHA:1675 |
Mend Syndrome |
|
Abnormal social behavior |
ORPHA:401973 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:314647 |
Tuberous Sclerosis Complex |
|
Abnormal social behavior |
ORPHA:805 |
Niemann-Pick Disease Type C |
|
Abnormal social behavior |
ORPHA:646 |
Williams Syndrome |
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Abnormal social behavior, Overfriendliness |
ORPHA:904 |