Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease |
OMIM:613148 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... |
OMIM:619079 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... |
OMIM:266600 |
Lactose Intolerance, Adult Type |
|
Lactose intolerance, Decreased small intestinal mucosa lactase level |
OMIM:223100 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Abnormal intestine morphology |
OMIM:251850 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain |
OMIM:191390 |
Diarrhea 9 |
|
Villous atrophy |
OMIM:618168 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Microvillar PAS-positive secretory granules |
OMIM:619445 |
Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... |
ORPHA:103907 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Protein-losing enteropathy |
OMIM:615863 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... |
OMIM:132900 |
Fibromuscular Dysplasia, Arterial |
|
Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudication, Aortic disse... |
OMIM:135580 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abnormal small intestinal villus morphology, Hypovolemia |
ORPHA:2290 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic eosin... |
OMIM:617638 |
Familial Aortic Dissection |
|
Aortic regurgitation, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending ao... |
ORPHA:229 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Diarrhea 6 |
|
Chronic diarrhea, Crohn's disease, Abdominal pain |
OMIM:614616 |
Immunodeficiency 37 |
|
Colitis, Infectious encephalitis |
OMIM:616098 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis |
ORPHA:88643 |
Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Congestive heart failure, Heart mu... |
ORPHA:3400 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Minimal change glomerulonephritis |
OMIM:617006 |
Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
Moyamoya Disease 1 |
|
Carotid artery occlusion, Inflammatory arteriopathy, Telangiectasia |
OMIM:252350 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Folliculitis, Inflammation of the l... |
OMIM:300635 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... |
OMIM:613960 |
Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Crohn's disease, Mucoid diarrhea |
OMIM:615767 |
Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Malabsorption, Hematochezia, Protein-losing enteropathy, Vascular dilata... |
OMIM:277175 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Enterocolitis, Diffuse alveolar hemorrhage |
OMIM:616050 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Patent ductus arteriosus, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:1705 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... |
ORPHA:26790 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... |
ORPHA:3092 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Tachycardia, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
Immunodeficiency 76 |
|
Chronic diarrhea, Colitis, Recurrent pneumonia |
OMIM:619164 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Lymphangiectasis, Villous atrophy, Protein-losing enteropathy, Steatorrhea |
OMIM:602579 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis |
OMIM:614328 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Malabsorption |
OMIM:600955 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Left ventricular outflow tract obstruction, Tetralogy of Fallot, Coarctati... |
OMIM:615779 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T... |
ORPHA:2041 |
Immunodeficiency 70 |
|
Celiac disease, Colitis, Recurrent sinusitis, Furuncle, Achalasia |
OMIM:618969 |
Immunodeficiency 14B, Autosomal Recessive |
|
Chronic diarrhea, Recurrent pneumonia, Inflammation of the large intestine, Colitis, Recurrent si... |
OMIM:619281 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... |
ORPHA:85451 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Ileal ulcer, Anterior uveitis, Colitis, Skin rash |
OMIM:616744 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Cardiomegaly |
OMIM:300886 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Acne, Sterile arthritis, Arthritis, Colitis, Cystic acne |
OMIM:604416 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree at... |
OMIM:115197 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Linear Iga Dermatosis |
|
Inflammation of the large intestine |
ORPHA:46488 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly |
ORPHA:85447 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... |
ORPHA:615 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Chylomicron Retention Disease |
|
Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea |
OMIM:246700 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction... |
OMIM:614096 |
Immunodeficiency 57 With Autoinflammation |
|
Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Inflammation of the large intes... |
OMIM:618108 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Immunodeficiency 60 And Autoimmunity |
|
Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis, Crohn's disease |
OMIM:618394 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ab... |
ORPHA:860 |
Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, High palate, Bifid uvula |
OMIM:601110 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Coarctation of aorta |
OMIM:241550 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Functional abnormality of the gastrointestinal ... |
ORPHA:90362 |
Refractory Celiac Disease |
|
Jejunitis, Villous atrophy, Protein-losing enteropathy, Malabsorption |
ORPHA:398063 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Colitis |
OMIM:614602 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Atrial fibrillation, Thoracic aortic aneurysm, Ascending aortic dissection, High palate, Aortic t... |
OMIM:616166 |
Esophagitis, Eosinophilic, 1 |
|
Vomiting, Esophagitis, Dysphagia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Vomiting, Esophagitis, Dysphagia |
OMIM:613412 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... |
ORPHA:411696 |
Netherton Syndrome |
|
Villous atrophy, Recurrent infection of the gastrointestinal tract, Intestinal atresia |
OMIM:256500 |
Congenital Myopathy 8 |
|
Congestive heart failure, Cardiomegaly |
OMIM:618654 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Medial calcification of large arteries, Congestive heart failure, Esophageal car... |
ORPHA:391487 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Interstitial pneumonitis, Enterocolitis, Ulcerative colitis |
OMIM:614878 |
Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Right aortic arch, Pulmonic stenosis, Pulmonary artery atresi... |
OMIM:618780 |
Bare Lymphocyte Syndrome, Type Ii |
|
Villous atrophy, Colitis, Malabsorption |
OMIM:209920 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... |
OMIM:613834 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a... |
OMIM:243150 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Steatorrhea |
OMIM:613291 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left-to-right shunt, Congestive heart failure, Patent ductus arteriosus, Left ventricular outflow... |
ORPHA:99050 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Arrhythmia, Abnormal aortic morphology, Cardiomyopathy |
ORPHA:3222 |
Immunodeficiency 40 |
|
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Interstitial pneumonitis, Chronic oral can... |
OMIM:616433 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... |
ORPHA:57777 |
Aortic Valve Disease 2 |
|
Aortic regurgitation, Calcification of the aorta, Coarctation of aorta, Mitral regurgitation, Asc... |
OMIM:614823 |
Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy |
OMIM:619510 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... |
OMIM:106300 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Colitis, Recurrent sinusitis |
OMIM:613101 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly |
OMIM:600649 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Epistaxis, Cerebral arteriovenous malformation, Pulmonary ar... |
OMIM:175050 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Abnormal aortic morphology, Intestinal atresia |
ORPHA:3405 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting |
OMIM:616809 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Villous atrophy, Pericarditis, Stroke-like episode, Cardiomyopathy, Steatorrhea |
OMIM:212065 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
High, narrow palate, Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdo... |
ORPHA:91387 |
Congenital Heart Defects, Multiple Types, 6 |
|
Hypoplastic pulmonary veins, Left ventricular outflow tract obstruction, Coarctation of aorta, Ri... |
OMIM:613854 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Colitis |
OMIM:615190 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Ileus |
OMIM:304790 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Chronic constipation, I... |
OMIM:301074 |
Syndromic Diarrhea |
|
Aortic regurgitation, Villous atrophy, Gastritis, Patent ductus arteriosus, Colitis, Hepatoblasto... |
ORPHA:84064 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Patent ductus arteriosus, Bilateral cleft lip and palate, Abnormal aortic... |
ORPHA:2001 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Lymphocytic infiltratio... |
ORPHA:436159 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... |
ORPHA:555874 |
Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Eczema, Allergic rhinitis, ... |
OMIM:618131 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Pneumonia, Erythema nodosum, Chronic diarrhea, Recurrent pne... |
OMIM:614700 |
Coarctation Of Aorta |
|
Coarctation of aorta |
OMIM:120000 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... |
OMIM:615237 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... |
ORPHA:1677 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Patent ductus arteriosus... |
OMIM:300048 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... |
OMIM:601005 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Congestive heart failure, Patent ductus arteriosus, Hypoplastic a... |
ORPHA:1457 |
Partial Atrioventricular Septal Defect |
|
Atrial flutter, Angina pectoris, Transient ischemic attack, Patent ductus arteriosus, Tetralogy o... |
ORPHA:1330 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:619064 |
Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Malabsorption |
ORPHA:100025 |
Pericardial And Diaphragmatic Defect |
|
Intestinal malrotation, Patent ductus arteriosus, Tetralogy of Fallot, Palpitations, Mitral steno... |
ORPHA:2847 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Fulminant hepat... |
ORPHA:2137 |
Double Outlet Right Ventricle |
|
Tachycardia, Intestinal malrotation, Submucous cleft hard palate, Double outlet right ventricle, ... |
ORPHA:3426 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Psoriasiform derma... |
ORPHA:37042 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time |
OMIM:619377 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic diarrhea, Chron... |
ORPHA:911 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo... |
OMIM:618652 |
Shigellosis |
|
Pneumonia, Anorexia, Abdominal pain, Intestinal perforation, Myocarditis, Peritonitis, Uveitis, B... |
ORPHA:810 |
Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Congestive heart failure, Cardiomegaly |
OMIM:269920 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Villous atrophy, Pulmonic stenosis, Tetralogy of Fallot, Bifid uvula |
OMIM:222470 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... |
OMIM:619051 |
Methimazole Embryofetopathy |
|
Esophageal atresia, Abnormal aortic morphology, Tracheoesophageal fistula, Coarctation of aorta |
ORPHA:1923 |
Pyoderma Gangrenosum |
|
Pustule, Myositis, Rheumatoid arthritis, Inflammation of the large intestine |
ORPHA:48104 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture |
OMIM:620133 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
Igg4-Related Aortitis |
|
Intestinal obstruction, Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubu... |
ORPHA:449400 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Dilated cardiomyopathy, Perianal ... |
OMIM:619573 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy |
OMIM:606367 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Endoc... |
OMIM:212140 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Enterocoliti... |
ORPHA:2686 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ... |
ORPHA:793 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly |
OMIM:614702 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Arthritis, Inflammation o... |
ORPHA:324964 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Eczema, Anal fissure, Perianal abscess, Lymphadenitis, Recurrent pneumonia, U... |
OMIM:618935 |
Immunodeficiency 31C |
|
Gastrointestinal eosinophilia, Villous atrophy, Protein-losing enteropathy, Intussusception |
OMIM:614162 |
Mungan Syndrome |
|
Tricuspid regurgitation, Barrett esophagus, Intestinal pseudo-obstruction, Hypoperistalsis, Pulmo... |
OMIM:611376 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Membranous nephropathy, Atopic dermatitis, Colonic eosinophilia |
OMIM:618999 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Telangiectasia, Cardiomyopath... |
OMIM:235200 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Mitral regurgitat... |
OMIM:300280 |
Tricuspid Atresia |
|
Pulmonary artery atresia, Persistent left superior vena cava, Transposition of the great arteries... |
ORPHA:1209 |
Immunodeficiency 97 With Autoinflammation |
|
Recurrent skin infections, Eczema, Abdominal pain, Diarrhea, Enterocolitis, Colitis, Recurrent ot... |
OMIM:619802 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Feeding difficulties in infancy, Chronic diarrhea, Chronic mucocutaneous candidiasis, Inf... |
ORPHA:98813 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction |
OMIM:253250 |
Parenteral Nutrition-Associated Cholestasis |
|
Villous atrophy, Portal hypertension |
ORPHA:567983 |
Alg9-Cdg |
|
Villous atrophy, Tricuspid regurgitation, Gastroesophageal reflux, Abnormal renal artery morpholo... |
ORPHA:79328 |
Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Bloody diarrhea, ... |
ORPHA:67 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
Congenital Heart Defects, Multiple Types, 9 |
|
Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricle, Transposition... |
OMIM:620294 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormality of the pulmonary artery, Tetralogy of Fallot, Cleft palate, Abnormal aortic morphology |
ORPHA:1166 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy |
OMIM:619063 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Cardiomyopathy, Protein-losing enteropathy |
ORPHA:79327 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Steatorrhea, Hematochezia, Protein-losi... |
ORPHA:2070 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar... |
ORPHA:90291 |
Refsum Disease, Classic |
|
Cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomegaly |
OMIM:266500 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Coarctation of aorta |
OMIM:601612 |
Conotruncal Heart Malformations |
|
Truncus arteriosus, Transposition of the great arteries, Double outlet right ventricle, Coarctati... |
OMIM:217095 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e... |
OMIM:261740 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Chronic diarrhea, Colitis, Bronchiectasis, Recurrent pneumonia |
OMIM:301220 |
Hermansky-Pudlak Syndrome 1 |
|
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain |
OMIM:203300 |
Scimitar Syndrome |
|
Left-to-right shunt, Anomalous origin of left coronary artery from the pulmonary artery, Heart bl... |
ORPHA:185 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Duodenal ulcer, Gastritis, Colitis, Anoperineal fistula, Crohn's disease, Vascul... |
OMIM:619381 |
Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Malabsorption, Steatorrhea |
OMIM:557000 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Hiatus hernia, Pyloric stenosi... |
ORPHA:3342 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
High, narrow palate, Truncus arteriosus, Abnormal aortic morphology, Cleft palate |
ORPHA:2516 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... |
OMIM:613426 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Cardiac Diverticulum |
|
Ventricular tachycardia, Pulmonary artery hypoplasia, Abnormal EKG, Patent ductus arteriosus, Pul... |
ORPHA:1686 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea, Colonic stenosis... |
ORPHA:90038 |
Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomyopathy, Splenomegaly, Cardiomegaly |
OMIM:256550 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Maculopapular exanthema, Skin rash, Colitis, Decreased liver function, Erythroderma, Infectious e... |
ORPHA:540 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy |
OMIM:613502 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology |
ORPHA:1455 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat... |
ORPHA:2929 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Arrhythmia, Cardiomegaly |
OMIM:255120 |
Iga Pemphigus |
|
Pustule, Neutrophilic infiltration of the skin, Ulcerative colitis, Cutaneous abscess |
ORPHA:555905 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Cat Eye Syndrome |
|
Anal stenosis, Intestinal malrotation, Rectal fistula, Patent ductus arteriosus, Rectal atresia, ... |
OMIM:115470 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... |
OMIM:231005 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Sudden cardiac death, Cardiomegaly, Reduced left ventricular ejection fraction, Hyp... |
OMIM:201475 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension |
OMIM:208000 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing enteropathy, Gas... |
OMIM:175500 |
Aortic Arch Interruption |
|
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... |
ORPHA:2299 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepatosplenomegaly |
ORPHA:99931 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Keratoconjunctivitis sicca, Colitis, Steatorrhea,... |
ORPHA:309031 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Patent ductus arteriosus, At... |
ORPHA:392 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Left ventricular hypertrophy |
OMIM:617713 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Protein-losing enteropathy, Portal hypertension |
ORPHA:79319 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Pseudo-Torch Syndrome 3 |
|
Hypertension, Cerebral hemorrhage, Cardiomegaly |
OMIM:618886 |
Arterial Tortuosity Syndrome |
|
Aortic regurgitation, Carotid artery dissection, Hiatus hernia, Pulmonary artery stenosis, Hypert... |
OMIM:208050 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Arrhythmia, Cardiomegaly |
ORPHA:42 |
Hyperlipoproteinemia, Type Id |
|
Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Recurrent pneumonia, Bloody diarrhea, Hematochezia, Inflammation of the large intestin... |
OMIM:617718 |
Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval, He... |
ORPHA:308552 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa... |
ORPHA:980 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Chronic diarrhea, Esophageal varix |
OMIM:614576 |
Familial Bicuspid Aortic Valve |
|
Aortic regurgitation, Aortic arch aneurysm, Heart murmur, Coarctation of aorta, Hypertension, Asc... |
ORPHA:402075 |
Congenital Tracheal Stenosis |
|
Abnormal stomach morphology, Ascending aorta hypoplasia, Patent ductus arteriosus, Tracheoesophag... |
ORPHA:141127 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Esophageal atresia, Patent ductus arteriosus, Pulmonary artery stenosis, Pulmonary lymphangiectas... |
OMIM:265380 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... |
ORPHA:2908 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... |
ORPHA:363705 |
Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Arthritis, Inflammati... |
ORPHA:29207 |
8P23.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Pulmonary artery stenosis, Abnormal aortic morphology, High palate, Tra... |
ORPHA:251071 |
Mitchell-Riley Syndrome |
|
Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anus, Acholic stools, M... |
OMIM:615710 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis,... |
ORPHA:79076 |
Fryns Syndrome |
|
Aganglionic megacolon, Intestinal malrotation, Abnormal aortic arch morphology, Cleft palate, Ect... |
ORPHA:2059 |
Sepsis In Premature Infants |
|
Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Enterocolitis, Functional abnormali... |
ORPHA:90051 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Cardiomegaly, Right bundle branch block, Reduced left ventricular ejection fraction... |
ORPHA:268 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:613320 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Portal hypertension, Cardiomegaly, Splenomegaly, Congestive heart failure, Cardiomy... |
ORPHA:465508 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Abdominal pain, Intestinal perforation, Myocarditis, Diarrhea, Pancreatitis, Secretory... |
ORPHA:544482 |
Diabetic Embryopathy |
|
Tetralogy of Fallot, Cleft palate, Abnormal aortic morphology, Transposition of the great arterie... |
ORPHA:1926 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Abdominal pain, Lymphadenitis, Chronic diarrhea, Hematochezia, Inflammation of the large ... |
OMIM:615895 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Cholangitis, Eczema, Abdominal pain, Feeding difficulties i... |
ORPHA:3260 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Intestinal malrotation, Patent ductus arteriosus, Partial anomalous p... |
OMIM:270100 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Cardiomegaly |
ORPHA:158687 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Inflammati... |
ORPHA:3243 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Thymoma |
|
Myositis, Glomerulonephritis, Ulcerative colitis, Rheumatoid arthritis, Neoplasm of the gastroint... |
ORPHA:99867 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Absent uvul... |
OMIM:619708 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... |
OMIM:232300 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Congestive heart failure, Cardiomegaly |
OMIM:619259 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Pancolitis, Bloody diarrhea, Anoper... |
OMIM:618213 |
Heterotaxy, Visceral, 12, Autosomal |
|
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Hypoplastic aortic arch, Dex... |
OMIM:619702 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Sudden cardiac death, Myocardial infarction, Precocious atherosclerosis, Abnorma... |
ORPHA:391665 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
Plague |
|
Glossitis, Chapped lip, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Lymphadenitis, Hem... |
ORPHA:707 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... |
OMIM:610338 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... |
ORPHA:137675 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
Sickle Cell Disease |
|
Splenomegaly, Hepatomegaly, Hypertension, Cardiomegaly |
OMIM:603903 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Diarrhea, Hepatocellular adenoma, Enterocolitis, Gout, Ulcerative colitis, Thyroiditis, Inflammat... |
ORPHA:79259 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated... |
OMIM:614921 |
Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Orthostatic hypotension, Cardiomegaly |
OMIM:268800 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ... |
ORPHA:562639 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Protein-losing enteropathy |
OMIM:618154 |
Autoimmune Lymphoproliferative Syndrome |
|
Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, Arthritis, Colitis, Panniculitis,... |
ORPHA:3261 |
Congenital Factor Xiii Deficiency |
|
Inflammation of the large intestine, Hepatic failure |
ORPHA:331 |
Phace Association |
|
Anomalous branches of internal carotid artery, Patent ductus arteriosus, Arterial stenosis, Coarc... |
OMIM:606519 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Cholangiocarcinoma, Abnormal large intestine physiology, Abdominal pain, C... |
ORPHA:171 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly |
OMIM:105210 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:3384 |
Loeys-Dietz Syndrome |
|
Cardiac arrest, Arterial tortuosity, Patent ductus arteriosus, High palate, Aortic dissection, Ar... |
ORPHA:60030 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Aortic regurgitation, Cleft palate, Coarctation of aorta, Abnormal aortic m... |
ORPHA:1052 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
Glycogen Storage Disease Ib |
|
Gout, Inflammation of the large intestine, Protuberant abdomen, Hepatocellular carcinoma, Pancrea... |
OMIM:232220 |
Right Atrial Isomerism |
|
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Transposition of the... |
OMIM:208530 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Eczema, Keratitis, Hematemesis, Chronic diarrhea, Hematochezia, Arthritis, Inflammatio... |
ORPHA:906 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Tricuspid regurgitation, Cardiomegaly |
OMIM:620306 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia |
ORPHA:228308 |
Wiskott-Aldrich Syndrome |
|
Eczema, Hematemesis, Diarrhea, Chronic diarrhea, Recurrent pneumonia, Ulcerative colitis, Melena,... |
OMIM:301000 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Arrhythmia, Enlarged kidney, Antenatal intrac... |
OMIM:608836 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Mitral valve prolapse, Hepat... |
OMIM:602782 |
Glycogen Storage Disease Ic |
|
Stomatitis, Chronic pancreatitis, Gout, Inflammation of the large intestine, Hepatocellular carci... |
OMIM:232240 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
Meacham Syndrome |
|
Patent ductus arteriosus, Anomalous pulmonary venous return, Conotruncal defect, Coarctation of a... |
ORPHA:3097 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy |
ORPHA:79330 |
Alport Syndrome |
|
Renal glomerular foam cells, Hypertension, Abnormal aortic morphology, Dysphagia, Aortic aneurysm |
ORPHA:63 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, Hepatic failure, High palate |
OMIM:606812 |
Heterotaxy, Visceral, 8, Autosomal |
|
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Double outlet ri... |
OMIM:617205 |
2Q37 Microdeletion Syndrome |
|
Pyloric stenosis, Abnormal aortic morphology |
ORPHA:1001 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, High palate, Abdominal aortic aneurysm, Bifid uvula, Eosinophilic inf... |
OMIM:613795 |
Fanconi Anemia |
|
Aganglionic megacolon, Aplasia/Hypoplasia of the uvula, Patent ductus arteriosus, Tracheoesophage... |
ORPHA:84 |
Aneurysm-Osteoarthritis Syndrome |
|
Aortic regurgitation, Atrial fibrillation, Arterial tortuosity, Patent ductus arteriosus, Cleft p... |
ORPHA:284984 |
Frontometaphyseal Dysplasia 2 |
|
Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha... |
OMIM:617137 |
Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly |
OMIM:608013 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Absent pulmonary artery, Patent ductus arteriosus, Cleft palate, Coarctation of aorta, Tetralogy ... |
OMIM:600460 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Mucosal telangiectasiae, Cardiomegaly |
ORPHA:2463 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Transient ischemic attack, Cardiomegaly, Vasculitis, Shortened PR interval, Left ve... |
ORPHA:365 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Heart m... |
OMIM:252500 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Atrioventricular block, Reduced left ventricular ejecti... |
ORPHA:581 |
Holoprosencephaly |
|
Intestinal atresia, Abnormal aortic morphology, Gastroesophageal reflux, Arrhythmia, Tetralogy of... |
ORPHA:2162 |
Sarcoidosis, Susceptibility To, 1 |
|
Anorexia, Iridocyclitis, Bronchiectasis, Uveitis, Arthritis, Inflammation of the large intestine,... |
OMIM:181000 |
Fucosidosis |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:230000 |
Encephalocraniocutaneous Lipomatosis |
|
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Pulmonary arterial hyp... |
ORPHA:2396 |
Pagod Syndrome |
|
Sudden cardiac death, Pulmonary artery hypoplasia, Abnormal aortic morphology, Arrhythmia, Abnorm... |
ORPHA:991 |
Ogden Syndrome |
|
Premature atrial contractions, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal... |
OMIM:300855 |
Whim Syndrome |
|
Abnormal small intestine morphology, Tetralogy of Fallot, Parotitis |
ORPHA:51636 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... |
OMIM:300967 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
OMIM:618278 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... |
ORPHA:99413 |
Turner Syndrome |
|
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... |
ORPHA:881 |
Mosaic Monosomy X |
|
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... |
ORPHA:99228 |
Monosomy X |
|
Celiac disease, High, narrow palate, Thyroiditis, Gastrointestinal angiodysplasia, Gastrointestin... |
ORPHA:99226 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney |
OMIM:130650 |
Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Bradycardia, Cardiomegaly |
ORPHA:97297 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
Abetalipoproteinemia |
|
Hepatomegaly, Congestive heart failure, Cardiomegaly |
ORPHA:14 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Peripheral arterial stenosis, Heart murmur, Macroglossia, Hypertension, Cardiomyopathy, Abnormal ... |
ORPHA:217085 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Peripheral arterial stenosis, Heart murmur, Macroglossia, Hypertension, Cardiomyopathy, Abnormal ... |
ORPHA:217093 |
Autosomal Recessive Polycystic Kidney Disease |
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Gastrointestinal hemorrhage, Cholangiocarcinoma, Portal hypertension, Esophageal varix, Hypertens... |
ORPHA:731 |
Chronic Thromboembolic Pulmonary Hypertension |
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Inflammation of the large intestine, Osteomyelitis |
ORPHA:70591 |
Autosomal Recessive Robinow Syndrome |
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Tetralogy of Fallot, Ectopic anus, Abnormal aortic morphology, Bifid tongue, Ankyloglossia |
ORPHA:1507 |
Mucopolysaccharidosis Type 2 |
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Peripheral arterial stenosis, Macroglossia, Hypertension, Cardiomyopathy, Abnormal aortic morphol... |
ORPHA:580 |
Aicardi-Goutières Syndrome |
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Raynaud phenomenon, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:51 |
Mowat-Wilson Syndrome |
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Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Gastrointestinal ... |
ORPHA:2152 |
Yunis-Varon Syndrome |
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Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Cardiomyopathy, Hypertension,... |
ORPHA:3472 |
Liver Disease, Severe Congenital |
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Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... |
OMIM:619991 |
Williams Syndrome |
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Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe... |
ORPHA:904 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Arrhythmia |
OMIM:256040 |
Generalized Arterial Calcification Of Infancy |
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Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Retinal h... |
ORPHA:51608 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Visceromegaly, Enlarged ki... |
ORPHA:116 |
Igg4-Related Kidney Disease |
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Sialadenitis, Abnormal aortic morphology, Arteritis, Pericarditis |
ORPHA:449395 |
Fraser Syndrome 1 |
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Abnormal small intestine morphology, Cleft palate, Abnormality of the anus |
OMIM:219000 |
Singleton-Merten Syndrome 1 |
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Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, S... |
OMIM:182250 |