| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, T lymphocytopenia |
DECIPHER:16 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:618883 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... |
OMIM:604169 |
| Cardiomyopathy, Dilated, 1R |
|
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... |
OMIM:613424 |
| Klippel-Trénaunay Syndrome |
|
Peripheral arteriovenous fistula, Venous insufficiency, Edema, Atrial septal defect, Hydrops feta... |
ORPHA:90308 |
| Myeloproliferative Syndrome, Transient |
|
Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
| Nephrosialidosis |
|
Pericardial effusion, Ascites, Bone-marrow foam cells |
OMIM:256150 |
| Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
| Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Cardiac arrest, Stroke, Reduced left ventricular ejection fraction, Hepatomegaly, Ventricular hyp... |
OMIM:115197 |
| Familial Aortic Dissection |
|
Stroke, Descending aortic dissection, Aortic root aneurysm, Mucoid extracellular matrix accumulat... |
ORPHA:229 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia |
OMIM:619398 |
| Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Aortic root aneurysm, Abnormal heart valve morphology, Ventr... |
ORPHA:3400 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Atrial septal defect, Ventricular septal defect, Hypoplastic... |
ORPHA:860 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Congestive he... |
OMIM:601493 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Ventricular septal defect, Atrioventricular canal defect, Left ventricula... |
ORPHA:3092 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Atr... |
OMIM:615779 |
| Capillary Malformation-Arteriovenous Malformation |
|
Peripheral arteriovenous fistula, Nonimmune hydrops fetalis, High-output congestive heart failure... |
ORPHA:137667 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Cardiac arrest, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncomp... |
OMIM:612158 |
| Eosinophilia, Familial |
|
Leukocytosis, Anemia, Eosinophilia, Thrombocytopenia, Recurrent bronchitis |
OMIM:131400 |
| Coronary Arterial Fistula |
|
Bacterial endocarditis, Atrial septal defect, Abnormal heart morphology, Angina pectoris, Patent ... |
ORPHA:2041 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Overriding aorta, Abnormal aortic arch morphology, Intrauterine growth retardation, Arteriovenous... |
ORPHA:1110 |
| Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Congestive heart fail... |
OMIM:613642 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Intrauterine growth retardation, Pericardial effusion, Oligohydramnios, Hypertrophic cardiomyopat... |
OMIM:614702 |
| Craniofaciofrontodigital Syndrome |
|
Stroke, Atrial septal defect, Ventricular septal defect, Persistent fetal circulation, Pulmonary ... |
ORPHA:363705 |
| Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Left ventricular noncompaction, Syncope, Congestive heart failur... |
OMIM:615396 |
| Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Reduced systolic function, Congestive heart failure, ... |
OMIM:604765 |
| Coarctation Of Aorta |
|
Coarctation of aorta, Hypoplastic left heart |
OMIM:120000 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Left ventricular systolic dysfunction, Mitral regurgitati... |
OMIM:615373 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Stroke, Descending aortic dissection, Posterior cerebral artery stenosis, Thoracic aortic aneurys... |
OMIM:132900 |
| Distal Duplication 14Q |
|
Abnormal aortic morphology, Short stature, Patent ductus arteriosus |
ORPHA:1705 |
| Cantu Syndrome |
|
Umbilical hernia, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial ef... |
OMIM:239850 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:2239 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Adams-Oliver Syndrome |
|
Encephalocele, Pulmonary artery atresia, Abnormal pulmonary valve morphology, Pulmonary arterial ... |
ORPHA:974 |
| Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Pulmonic stenosis, Hydrops fetalis, Hepatomegaly, Chylopericardi... |
ORPHA:2414 |
| Aorta Coarctation |
|
Stroke, Pulmonary arterial hypertension, Hypoplastic left heart, Coarctation of the descending ao... |
ORPHA:1457 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia, Splenomegaly |
OMIM:619658 |
| Atrial Standstill |
|
Reduced left ventricular ejection fraction, Cardiomyopathy, Abnormal heart morphology, Sick sinus... |
ORPHA:1344 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Heart block, Muscular dystrophy, Syncope, Supraventricular tachycardia, Sinoatrial block, Sudden ... |
ORPHA:300751 |
| Alpha-Heavy Chain Disease |
|
Hypocalcemia, Splenomegaly, Anemia |
ORPHA:100025 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Familial Multiple Nevi Flammei |
|
Venous insufficiency, Edema, Arteriovenous malformation, Arrhythmia, Intracranial hemorrhage, Pul... |
ORPHA:624 |
| Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Arrhythmia, Polyhydramnios, Capillary leak, Abnormal heart morphology,... |
ORPHA:1041 |
| Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Aortic regurgitation,... |
OMIM:616501 |
| Capillary Malformation-Arteriovenous Malformation 1 |
|
Arteriovenous fistula, Arteriovenous malformation |
OMIM:608354 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Abnormal cardiac septum morphology, Coarctation of aorta, Patent ductus arteriosus, Neonatal death |
OMIM:601612 |
| Congenital Tricuspid Valve Dysplasia |
|
Systolic heart murmur, Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Int... |
ORPHA:555874 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia, Splenomegaly |
ORPHA:172 |
| Parkes Weber Syndrome |
|
Subarachnoid hemorrhage, Peripheral arteriovenous fistula, High-output congestive heart failure, ... |
ORPHA:90307 |
| Arterial Dissection-Lentiginosis Syndrome |
|
Arterial dissection, Arteriovenous malformation |
ORPHA:1682 |
| Familial Atrial Myxoma |
|
Heart murmur, Bacterial endocarditis, Pulmonic valve myxoma, Tricuspid regurgitation, Dilatation ... |
ORPHA:615 |
| Wyburn-Mason Syndrome |
|
Subarachnoid hemorrhage, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology,... |
ORPHA:53719 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart |
OMIM:241550 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia, Splenomegaly |
OMIM:612526 |
| Tricuspid Atresia |
|
Pulmonary artery atresia, Hypoplasia of right ventricle, Coarctation of aorta, Ventricular septal... |
ORPHA:1209 |
| Cardiomyopathy, Dilated, 1A |
|
Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... |
OMIM:115200 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypocalcemia, Hypokalemia, Hypomagnesemia |
OMIM:620152 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
| Vein Of Galen Aneurysmal Malformation |
|
Peripheral arteriovenous fistula, Vascular dilatation, Abnormal cerebral vascular morphology |
ORPHA:1053 |
| Primary Effusion Lymphoma |
|
Pleural effusion, Pericardial effusion |
ORPHA:48686 |
| Non-Involuting Congenital Hemangioma |
|
Peripheral arteriovenous fistula, Congestive heart failure, Prominent superficial veins, Telangie... |
ORPHA:141179 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:146200 |
| Refractory Celiac Disease |
|
Hypoproteinemia, Increased proportion of HLA DR+ T cells, Hypophosphatemia, Normocytic anemia, Mi... |
ORPHA:398063 |
| Partial Atrioventricular Septal Defect |
|
Hypoplastic left heart, Bacterial endocarditis, Tetralogy of Fallot, Transient ischemic attack, A... |
ORPHA:1330 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Enlarged kidney, Anasarca, Cardiomyopathy, Hypertrophic cardiomyopathy, Br... |
OMIM:261740 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Recurrent respiratory infections, Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Pancyt... |
OMIM:614470 |
| Cardiac Diverticulum |
|
Abnormality of the diaphragm, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defec... |
ORPHA:1686 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
| Cerebral Arteriovenous Malformation |
|
Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology |
ORPHA:46724 |
| Rapidly Involuting Congenital Hemangioma |
|
Peripheral arteriovenous fistula, Congestive heart failure, Prominent superficial veins, Telangie... |
ORPHA:141184 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Stillbirth, Pericardial effusion, Pleural effusion, Ge... |
OMIM:618773 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis |
ORPHA:94090 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
| Choanal Atresia And Lymphedema |
|
Lymphedema, Pericardial effusion |
OMIM:613611 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiac arrest, Left ventricular diastolic dysfunction, Cardiomyocyte hypertrophy, Concentric hyp... |
OMIM:618052 |
| Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
| Spinal Arteriovenous Metameric Syndrome |
|
Congestive heart failure, Spinal arteriovenous malformation, Arteriovenous malformation |
ORPHA:53721 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Increased nuchal translucency, Edema, Atrial septal defect, Facial ede... |
OMIM:617300 |
| Cardiomyopathy, Dilated, 1S |
|
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Ventricular tachycardia, Coarctat... |
OMIM:613426 |
| Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Limb hypertonia, Aortic aneurysm, Atrial septal defect, Polyhydramnios, Short stature, Pericardia... |
OMIM:620070 |
| Mucopolysaccharidosis Type 7 |
|
Hydrops fetalis, Arteriovenous malformation, Umbilical hernia, Lymphedema, Splenomegaly, Ascites |
ORPHA:584 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Intrauterine growth retardation, Pericardial effusion, Persistent feta... |
OMIM:618775 |
| Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Venous insufficiency, Congestive heart failure, Arteriovenous malformation |
ORPHA:137608 |
| Dural Sinus Malformation |
|
Subarachnoid hemorrhage, Stroke, Cerebral hemorrhage, Subdural hemorrhage, Cerebellar hemorrhage,... |
ORPHA:97339 |
| Blue Rubber Bleb Nevus |
|
Intestinal bleeding, Arteriovenous malformation |
ORPHA:1059 |
| Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Anemia, Decreased proportion of CD3-positive T cells, Lymphopenia, Reduced propo... |
ORPHA:90362 |
| Pulmonary Arteriovenous Malformation |
|
Pulmonary arterial hypertension, Pulmonary hemorrhage, Bacterial endocarditis, Ischemic stroke, P... |
ORPHA:2038 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Increased circulating renin level, Hyperphosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Anemia, Recurrent pneumonia, Thrombocytopenia, Hypocalcemi... |
ORPHA:47 |
| Attrv122I Amyloidosis |
|
Stroke, Abnormal EKG, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, A... |
ORPHA:85451 |
| Truncus Arteriosus |
|
Right aortic arch, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Abnormal... |
ORPHA:3384 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Coronary artery calcification, Mitral regurgitation, Reduced left ventricular ejection fraction, ... |
OMIM:614473 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hepatosplenomegaly, Edema, Hepatomegaly, Pericardial effusion, Abnormal cardiac septum morphology... |
OMIM:608776 |
| Atrial Septal Defect 4 |
|
Coarctation of aorta, Patent foramen ovale, Atrial septal defect |
OMIM:611363 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Coronary artery calcification, Abdominal aortic calcification, Generalized arterial calcification... |
OMIM:208000 |
| Hereditary Hemorrhagic Telangiectasia |
|
Subarachnoid hemorrhage, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology,... |
ORPHA:774 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Pericardial effusion, Enlarged kidney |
OMIM:613885 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Hypophosphatemia, Hypocalcemia, Tooth abscess |
ORPHA:89937 |
| Congenital Myopathy 8 |
|
Type 1 muscle fiber predominance, Weakness of facial musculature, Muscle fiber atrophy, Congestiv... |
OMIM:618654 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Reduced left ventricular ejection fraction, Neonatal death, Hypertrophic cardiomyopathy, Congesti... |
OMIM:614096 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of left pulmonary artery from ascending aorta, Pulmonary artery atresia, Pulmona... |
ORPHA:99050 |
| Melorheostosis |
|
Peripheral arteriovenous fistula, Skeletal muscle atrophy, Lymphedema |
ORPHA:2485 |
| Absence Of The Pulmonary Artery |
|
Right aortic arch, Tetralogy of Fallot, Atrial septal defect, Reduced left ventricular ejection f... |
ORPHA:980 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Stroke, Mucoid extracellular matrix accumulation, Transient ischemic attack, Descending thoracic ... |
ORPHA:91387 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Myopathy, Aortic aneurysm, Arteriovenous malformation, Intracranial hemorrhage, Skeletal muscle a... |
ORPHA:109 |
| Immunodeficiency 69 |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Increased circulating fer... |
OMIM:618963 |
| Angiokeratoma Corporis Diffusum With Arteriovenous Fistulas |
|
Arteriovenous fistula |
OMIM:600419 |
| Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
| Cardiomyopathy, Dilated, 1D |
|
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left ventricular noncom... |
OMIM:601494 |
| Intermediate Osteopetrosis |
|
Hepatosplenomegaly, Thrombocytopenia, Hypocalcemia, Anemia |
ORPHA:210110 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arrhythmia, Cardiomyopathy, Hypertension, Abnormal aortic morphology |
ORPHA:3222 |
| Hypocomplementemic Urticarial Vasculitis |
|
Small vessel vasculitis, Angioedema, Hepatomegaly, Abnormal heart valve morphology, Pericardial e... |
ORPHA:36412 |
| Cutis Marmorata Telangiectatica Congenita |
|
Arteriovenous malformation, Intrauterine growth retardation, Patent ductus arteriosus, Telangiect... |
ORPHA:1556 |
| Scimitar Syndrome |
|
Hypoplastic left heart, Ventricular septal defect, Tetralogy of Fallot, Atrial septal defect, Lef... |
ORPHA:185 |
| Cardiac-Urogenital Syndrome |
|
Dysplastic tricuspid valve, Mesocardia, Dextrocardia, Hypoplastic left heart, Enlarged kidney, At... |
OMIM:618280 |
| Neuraminidase Deficiency |
|
Bone-marrow foam cells, Hydrops fetalis, Cardiomyopathy, Skeletal muscle atrophy, Hepatomegaly, S... |
OMIM:256550 |
| Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... |
ORPHA:1455 |
| 2P21 Microdeletion Syndrome |
|
Hypocalcemia |
ORPHA:163693 |
| Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Hypocalcemia, Anemia |
ORPHA:53 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypocalcemia, Hypokalemia, Elevated circulating creatinine concentration |
OMIM:179800 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Telangiectasia of the skin, Cerebral ischemia, Arrhythmia, Arteriovenous malformation |
ORPHA:60040 |
| Timothy Syndrome |
|
Pulmonary arterial hypertension, Ventricular tachycardia, Tetralogy of Fallot, Ventricular septal... |
OMIM:601005 |
| Sick Sinus Syndrome 2 |
|
Prolonged QTc interval, Cardiac arrest, Paroxysmal atrial fibrillation, Left ventricular hypertro... |
OMIM:163800 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Intrauterine growth retardation, Perimembranous ventricular septal defect, ... |
OMIM:620135 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion |
OMIM:614684 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Secundum atrial septal defect, Pulmonary artery atresia, Coarctation of aorta, Pulmonic stenosis,... |
OMIM:613854 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Ventricular septal defect, Tetralogy of Fallot, Aortic aneurysm, Left ventricular outflow tract o... |
OMIM:614980 |
| Phakomatosis Pigmentovascularis |
|
Arteriovenous malformation |
ORPHA:2875 |
| Fanconi Anemia |
|
Atrial septal defect, Tetralogy of Fallot, Arteriovenous malformation, Umbilical hernia, Spina bi... |
ORPHA:84 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Abnormal mitochondria in muscle tissue, Left ventricular noncompaction, Short stature, Dilated ca... |
OMIM:252011 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Ventricular septal defect, Short stature, Abnormal aortic morphology, Congen... |
ORPHA:1166 |
| Lymphatic Malformation 11 |
|
Lymphedema, Pedal edema |
OMIM:619401 |
| Colchicine Poisoning |
|
Abnormal blood ion concentration, Leukocytosis, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia |
ORPHA:93324 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Tricuspid regurgitation, Patent foramen ovale, P... |
OMIM:618652 |
| Transaldolase Deficiency |
|
Hepatosplenomegaly, Coarctation of aorta, Edema, Atrial septal defect, Hydrops fetalis, Biventric... |
ORPHA:101028 |
| Aortic Arch Interruption |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Abnormal heart morphology,... |
ORPHA:2299 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal aortic morphology, Truncus arteriosus, Intrauterine growth retardation, Ventricular sept... |
ORPHA:2516 |
| Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Thoracic aortic aneurysm, Mitral valve prolapse, Ascending aortic dissection, Atrial fibrillation... |
OMIM:616166 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased variability ... |
OMIM:617228 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Nonimmune hydrops fetalis, Camptodactyly, Atrial septal defect, Ventricular septal defect, Pleura... |
OMIM:235510 |
| Pulmonary Capillary Hemangiomatosis |
|
Diffuse alveolar hemorrhage, Pedal edema, Elevated pulmonary artery pressure, Pulmonary edema, Pe... |
ORPHA:199241 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
ORPHA:36913 |
| Pelizaeus-Merzbacher Disease |
|
Short stature, Arteriovenous malformation |
ORPHA:702 |
| Hennekam Syndrome |
|
Camptodactyly of finger, Arteriovenous malformation, Hydrops fetalis, Pericardial effusion, Ascit... |
ORPHA:2136 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Pulmonary artery atresia, Right aortic arch, Pulmonic stenosis, Tetralogy of Fallot, Absence of t... |
OMIM:618780 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia, Anemia |
ORPHA:2668 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Nonimmune hydrops fetalis, Right atrial enlargement, Restrictive cardiomyopathy, Pericardial effu... |
OMIM:619313 |
| Foix-Alajouanine Syndrome |
|
Distal lower limb amyotrophy, Cervical myelopathy, Distal lower limb muscle weakness, Lower limb ... |
ORPHA:79093 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Exercise-induced rhabdomyolysis, Ventricular tachycardia, Tachycardia, Atrial septal defect, Vent... |
ORPHA:26793 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Hydrops fetalis, Ventricular septal defect, Polyhydramnios, Abnormal tricuspid valve morphology, ... |
ORPHA:3405 |
| Fibromuscular Dysplasia, Arterial |
|
Stroke, Arterial fibromuscular dysplasia, Intermittent claudication, Aortic dissection, Myocardia... |
OMIM:135580 |
| Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Hypoplastic left heart, Atrial septal defect, Ventricular septal ... |
ORPHA:392 |
| Conotruncal Heart Malformations |
|
Coarctation of aorta, Complete atrioventricular canal defect, Double outlet right ventricle, Trun... |
OMIM:217095 |
| Long Qt Syndrome 15 |
|
Prolonged QTc interval, Cardiac arrest, Left ventricular noncompaction, Syncope, Ventricular bige... |
OMIM:616249 |
| 16P13.11 Microduplication Syndrome |
|
Coarctation of aorta, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Trans... |
ORPHA:261243 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Coarctation of aorta, Atrial septal defect, Spina bifida, Atrioventricular canal defect, Tricuspi... |
ORPHA:1120 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Reduced left ventricular ejection fraction, Atrial septal dilatation, Hepatomegaly, Tricuspid reg... |
ORPHA:1677 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
| Mulibrey Nanism |
|
Hydrops fetalis, Intrauterine growth retardation, Short stature, Hepatomegaly, Congestive heart f... |
OMIM:253250 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatosplenomegaly, Edema, Left ventricular hypertrophy, Hypertension, Intrauterine growth retard... |
OMIM:619487 |
| Congenital Enterovirus Infection |
|
Myocarditis, Hypotension, Hydrops fetalis, Polyhydramnios, Cardiomyopathy, Fetal ascites, Pericar... |
ORPHA:292 |
| Juvenile Arthritis |
|
Leukocytosis, Thrombocytosis |
OMIM:618795 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypocalcemia, Hypomagnesemia, Hypokalemia, Anemia |
OMIM:175500 |
| Cirrhotic Cardiomyopathy |
|
Left ventricular diastolic dysfunction, Third heart sound, Global systolic dysfunction, Left atri... |
ORPHA:57777 |
| Combined Oxidative Phosphorylation Deficiency 20 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy |
OMIM:615917 |
| Danon Disease |
|
Lower limb amyotrophy, Ventricular tachycardia, Wolff-Parkinson-White syndrome, Syncope, Severely... |
OMIM:300257 |
| Kenny-Caffey Syndrome, Type 1 |
|
Hypomagnesemia, Hypocalcemia, Anemia |
OMIM:244460 |
| Methimazole Embryofetopathy |
|
Coarctation of aorta, Ventricular septal defect, Polyhydramnios, Intrauterine growth retardation,... |
ORPHA:1923 |
| Naxos Disease |
|
Prolonged QRS complex, Abnormal morphology of right ventricular trabeculae, Right ventricular car... |
OMIM:601214 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Reduced left ventricular ejection fraction, Aortic aneurysm, Right atrial enlargemen... |
OMIM:612422 |
| Gaucher Disease Type 1 |
|
Delayed puberty, Pulmonary arterial hypertension, Hepatomegaly, Abnormal myocardium morphology, P... |
ORPHA:77259 |
| Aortic Valve Disease 2 |
|
Coarctation of aorta, Mitral regurgitation, Pulmonic stenosis, Aortic aneurysm, Calcification of ... |
OMIM:614823 |
| Isolated Right Ventricular Hypoplasia |
|
Systolic heart murmur, Atrial septal defect, Right ventricular failure, Abnormal atrioventricular... |
ORPHA:439 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Hypoalbuminemia, Aplastic anemia, Hemophagocytosis, Thrombocyto... |
OMIM:308240 |
| Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:2123 |
| Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
| Drug-Induced Lupus Erythematosus |
|
Prolonged QTc interval, Pericarditis, Pericardial effusion |
ORPHA:231111 |
| Hypoplastic Left Heart Syndrome |
|
Hypoplastic left heart, Atrial septal defect, Mitral atresia, Hypoplastic aortic arch, Patent duc... |
ORPHA:2248 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Reduced left ventricular ejection fraction, Pulmonary venous hypertension,... |
ORPHA:75565 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Coarctation of aorta, Short stature, Patent ductus arteriosus, Atrial septal defect |
OMIM:615502 |
| Hypophosphatasia |
|
Emphysema, Hypercalcemia, Anemia |
ORPHA:436 |
| Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Cardiomyopathy, Skeletal muscle atrophy, Pericardial effusion |
OMIM:620089 |
| 8P23.1 Microdeletion Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect, Pulmonary artery sten... |
ORPHA:251071 |
| Q Fever |
|
Myocarditis, Hepatosplenomegaly, Vasculitis, Endocarditis, Abnormal heart valve morphology, Hepat... |
ORPHA:781 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Ne... |
ORPHA:169154 |
| Neuroleptic Malignant Syndrome |
|
Aspiration pneumonia, Leukocytosis, Hyperuricemia, Hyperphosphatemia, Elevated circulating creati... |
ORPHA:94093 |
| Currarino Syndrome |
|
Arteriovenous malformation |
ORPHA:1552 |
| Attrv30M Amyloidosis |
|
Arrhythmia, Cardiomyopathy, Cardiomegaly, Atrioventricular block |
ORPHA:85447 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Abnormal aortic morphology, Hypoplastic left heart, Patent ductus arteriosus |
ORPHA:2001 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Coarctation of aorta, Ventricular septal defect, Hepatomegaly, Short stature, Postnatal growth re... |
OMIM:620210 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Thrombocytopenia, Hypocalcemia, Pancytopenia, Splenomegaly |
OMIM:259700 |
| Oculoskeletodental Syndrome |
|
Hypocalcemia, Hypercalcemia |
ORPHA:557003 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Abnormal blood ion concentration, Recurrent... |
ORPHA:37042 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Situs inversus totalis, Hypoplastic left heart, Right aortic arch, Ventricular septal defect, Atr... |
OMIM:619702 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pleural effusion, Pericardial effusion |
ORPHA:411703 |
| Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Hepatomegaly, Complete atrioventricular canal defect, Abnormal EKG... |
ORPHA:1329 |
| Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia |
OMIM:612462 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Leukocytosis, Recurrent pneumonia, B lymphocytopenia, Thrombocytosis, Neutrophilia, Monocytosis, ... |
OMIM:619281 |
| Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
| Chronic Myeloid Leukemia |
|
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... |
ORPHA:521 |
| Bacterial Toxic-Shock Syndrome |
|
Increased circulating myelocyte count, Abscess, Elevated circulating creatine kinase concentratio... |
ORPHA:36234 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Subarachnoid hemorrhage, Pulmonary arteriovenous malformation, Lip telangiectasia, Dilatation of ... |
OMIM:610655 |
| Congenital Toxoplasmosis |
|
Cardiomegaly, Intrauterine growth retardation, Hepatomegaly, Ascites |
ORPHA:858 |
| Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Epidural hemorrhage, Enlarged kidney, Abnormal lymphatic vessel morphology, S... |
ORPHA:464329 |
| Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
| Double Outlet Right Ventricle |
|
Pulmonary artery atresia, Coarctation of aorta, Hypoplastic left heart, Pulmonic stenosis, Tetral... |
ORPHA:3426 |
| Infantile Sialic Acid Storage Disease |
|
Hydrops fetalis, Hepatomegaly, Congestive heart failure, Cardiomegaly, Splenomegaly, Ascites |
OMIM:269920 |
| Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia |
OMIM:606407 |
| Aortic Aneurysm, Familial Thoracic 7 |
|
Aortic rupture, Ascending aortic dissection, Descending aortic dissection, Aortic aneurysm |
OMIM:613780 |
| Myofibrillar Myopathy 11 |
|
Coarctation of aorta, Shoulder girdle muscle atrophy, Type 1 muscle fiber predominance, EMG: myop... |
OMIM:619178 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect |
OMIM:212090 |
| Generalized Arterial Calcification Of Infancy |
|
Stroke, Ventricular hypertrophy, Transient ischemic attack, Pulmonary arterial hypertension, Coro... |
ORPHA:51608 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Pulmonary arterial hypertension, Intrauterine growth retardation, Tricuspid regurgitation, Ventri... |
OMIM:619051 |
| Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
| Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
| Classic Homocystinuria |
|
Arteriovenous malformation, Intracranial hemorrhage, Hepatomegaly, Hypertension, Pulmonary emboli... |
ORPHA:394 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Pulmonary artery atresia, Congenitally corrected transposition of the great arteries with ventric... |
OMIM:617205 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Aortic root aneurysm, Prominent veins on trunk, Umbilical hernia, Carotid artery stenosis, Varico... |
ORPHA:536532 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Leukocytosis, Splenomegaly, Intraalveolar phospholipid accumula... |
OMIM:618042 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hyperbilirubinemia, Throm... |
OMIM:259720 |
| Carnitine Deficiency, Systemic Primary |
|
Dehydration, Mitral regurgitation, Myopathy, Cardiomyopathy, Hepatomegaly, Congestive heart failu... |
OMIM:212140 |
| Aortic Valve Disease 3 |
|
Aortic root aneurysm, Atrial septal defect, Bicuspid aortic valve, Aortic valve stenosis, Ascendi... |
OMIM:618496 |
| Meacham Syndrome |
|
Hypoplastic left heart, Right aortic arch, Atrial septal defect, Tetralogy of Fallot, Ventricular... |
OMIM:608978 |
| Gaucher Disease Type 3 |
|
Delayed puberty, Pulmonary arterial hypertension, Hydrops fetalis, Abnormal heart valve morpholog... |
ORPHA:77261 |
| Gracile Bone Dysplasia |
|
Hypoplastic spleen, Hypocalcemia, Asplenia |
OMIM:602361 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Coarctation of aorta, Pulmonic stenosis, Ventricular septal defect, Abnormal heart morphology, Ve... |
ORPHA:284169 |
| Transaldolase Deficiency |
|
Hepatosplenomegaly, Coarctation of aorta, Atrial septal defect, Ventricular septal defect, Intrau... |
OMIM:606003 |
| Lymphoproliferative Syndrome 1 |
|
Pleural effusion, Hepatomegaly, Pericardial effusion, Splenomegaly |
OMIM:613011 |
| Diabetic Embryopathy |
|
Spinal dysraphism, Aplasia/Hypoplasia of the abdominal wall musculature, Tetralogy of Fallot, Ven... |
ORPHA:1926 |
| Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure |
OMIM:300886 |
| Acute Interstitial Pneumonia |
|
Pleural effusion, Peripheral edema, Hypertension, Pericardial effusion |
ORPHA:79126 |
| Juvenile Idiopathic Arthritis |
|
Joint swelling, Hepatomegaly, Pericardial effusion, Splenomegaly |
ORPHA:92 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Descending aortic dissection, Aortic aneurysm, Thoracic aortic aneurysm, Premature coronary arter... |
OMIM:611788 |
| Congenital Aortic Valve Stenosis |
|
Abnormal T-wave, Endocarditis, Left ventricular hypertrophy, Dysplastic aortic valve, Thoracic ao... |
ORPHA:3093 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypertriglyceridemia, Hypomagnesemia, Hypocalcemia, Recurrent upper respiratory tract infections,... |
OMIM:618183 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Neutr... |
ORPHA:75564 |
| Pediatric Systemic Lupus Erythematosus |
|
Raynaud phenomenon, Edema, Pericardial effusion, Pleural effusion, Myositis, Ascites |
ORPHA:93552 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Camptodactyly of toe, Camptodactyly, Mitral regurgitation, Left atrial enlargement, Left ventricu... |
OMIM:300280 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Situs inversus totalis, Atrial situs ambiguous, Wolff-Parkinson-White syndrome, Atrial septal def... |
ORPHA:216694 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Mitral regurgitation, Left ventricular systolic dysfunction, Left ventricular hypertrophy, Left v... |
OMIM:619167 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Nonimmune hydrops fetalis, Edema, Cardiomyopathy, Hepatomegaly, Pericardial effusion, Flexion con... |
OMIM:212065 |
| Myhre Syndrome |
|
Camptodactyly, Coarctation of aorta, Atrial septal defect, Ventricular septal defect, Hypertensio... |
OMIM:139210 |
| Superficial Siderosis |
|
Subarachnoid hemorrhage, Arteriovenous malformation, Lower limb muscle weakness, Abnormal vertebr... |
ORPHA:247245 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Ventricular septal defect, Hydrops fetalis, Overriding aorta, Atrial flutte... |
OMIM:601927 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypophosphatemia, Hypocalcemia |
OMIM:600081 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Lip telangiectasia, Venous varicosities of celiac and mesenteric vessels, Transient ischemic atta... |
OMIM:187300 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia |
OMIM:264700 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:241410 |
| Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase |
ORPHA:99845 |
| Alkuraya-Kucinskas Syndrome |
|
Camptodactyly, Arthrogryposis multiplex congenita, Edema, Pericardial effusion, Pleural effusion |
OMIM:617822 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Pleuritis, Leukocytosis, Hemolytic anemia, Hyponatremia, Respiratory tract infection, Hyperkalemi... |
ORPHA:544482 |
| Rhabdoid Tumor |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:69077 |
| Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Coarctation of aorta, Ventricular septal defect, Patent foramen ovale, Patent ductus arteriosus, ... |
OMIM:610338 |
| Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Hypoplastic left heart, Enlarged kidney, Atrial septal defect, Ventricular septal defect, Atriove... |
OMIM:306955 |
| Juvenile Polyposis Syndrome |
|
Pulmonary arteriovenous malformation, Pulmonary arterial hypertension, Hematochezia, Hepatic arte... |
ORPHA:2929 |
| Oculoskeletodental Syndrome |
|
Hypocalcemia, Splenomegaly, Hypercalcemia |
OMIM:618440 |
| Classical Ehlers-Danlos Syndrome |
|
Mitral regurgitation, Joint swelling, Aortic root aneurysm, Umbilical hernia, Tricuspid valve pro... |
ORPHA:287 |
| Right Atrial Isomerism |
|
Situs inversus totalis, Pulmonary artery atresia, Dextrocardia, Pulmonic stenosis, Ventricular se... |
OMIM:208530 |
| Hemochromatosis, Type 1 |
|
Arrhythmia, Cardiomyopathy, Hepatomegaly, Telangiectasia, Congestive heart failure, Pleural effus... |
OMIM:235200 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Pulmonary edema, Edema |
OMIM:178400 |
| Familial Bicuspid Aortic Valve |
|
Heart murmur, Coarctation of aorta, Hypoplastic left heart, Aortic arch aneurysm, Hypertension, A... |
ORPHA:402075 |
| Familial Cerebral Saccular Aneurysm |
|
Subarachnoid hemorrhage, Abnormal circle of Willis morphology, Aortic root aneurysm, Intracranial... |
ORPHA:231160 |
| Polycythemia Vera |
|
Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... |
OMIM:263300 |
| Aicardi-Goutieres Syndrome 7 |
|
Vasculitis, Hematochezia, Edema, Limb hypertonia, Hypertension, Intrauterine growth retardation, ... |
OMIM:615846 |
| Phaver Syndrome |
|
Pulmonary artery atresia, Camptodactyly of finger, Coarctation of aorta, Myelomeningocele, Hypopl... |
ORPHA:2876 |
| Cholera |
|
Abnormal blood ion concentration, Aspiration pneumonia, Hypokalemia, Hypocalcemia, Hyponatremia |
ORPHA:173 |
| Microphthalmia, Syndromic 9 |
|
Pulmonary artery atresia, Coarctation of aorta, Severe short stature, Pulmonic stenosis, Atrial s... |
OMIM:601186 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Increased nuchal translucency, Coarctation of aorta, Mitral regurg... |
OMIM:620066 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Aortic Aneurysm, Familial Thoracic 8 |
|
Descending aortic dissection, Coronary artery dissection, Ascending aortic dissection, Abdominal ... |
OMIM:615436 |
| Poems Syndrome |
|
Pulmonary arterial hypertension, Edema, Pericardial effusion, Pleural effusion, Visceromegaly, As... |
ORPHA:2905 |
| Alg9-Cdg |
|
Torticollis, Enlarged kidney, Ventricular septal defect, Atrial septal defect, Hydrops fetalis, A... |
ORPHA:79328 |
| Aymé-Gripp Syndrome |
|
Camptodactyly, Short stature, Pericardial effusion, Patent ductus arteriosus, Congenital diaphrag... |
ORPHA:1272 |
| 15Q11.2 Microdeletion Syndrome |
|
Coarctation of aorta, Atrial septal defect, Total anomalous pulmonary venous return, Tetralogy of... |
ORPHA:261183 |
| Homozygous Familial Hypercholesterolemia |
|
Aortic atherosclerotic lesion, Abnormal internal carotid artery morphology, Premature coronary ar... |
ORPHA:391665 |
| Immunodeficiency 92 |
|
Decreased proportion of class-switched memory B cells, Leukocytosis, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Pulmonary artery atresia, Coarctation of aorta, Hypoplastic left heart, Supravalvar pulmonary ste... |
OMIM:618164 |
| Isotretinoin-Like Syndrome |
|
Abnormality of the pulmonary veins, Hypocalcemia, Lymphopenia |
ORPHA:2306 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Pulmonary lymphangiectasia, Hypocalcemia, Splenomegaly |
OMIM:235255 |
| Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Pneumonia, Thrombocytosis, Splenomegaly,... |
OMIM:209950 |
| Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis |
ORPHA:94089 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Pulmonary arterial hypertension, Coarctation of aorta, Atrial septal defect, Patent ductus arteri... |
OMIM:614857 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Recurrent lower respiratory tract infections, Hypokalemia, Splenomegaly, Hypocalcemia, Hyponatrem... |
OMIM:617913 |
| Sanjad-Sakati Syndrome |
|
Recurrent respiratory infections, Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Pulmonary artery atresia, Dextrocardia, Right aortic arch, Ventricular septal defect, Total anoma... |
OMIM:613751 |
| Congenital Disorder Of Glycosylation, Type It |
|
Rhabdomyolysis, Delayed puberty, Pulmonary arterial hypertension, Coarctation of aorta, Ventricul... |
OMIM:614921 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Dehydration, Hypertension, Coarctation of aorta |
OMIM:616069 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Recurrent pneumonia, Hypocalcemia, Recurrent upper respiratory tract infections |
OMIM:607143 |
| Angioosteohypertrophic Syndrome |
|
Peripheral arteriovenous fistula, Venous insufficiency, Tricuspid valve prolapse, Pulmonary embol... |
ORPHA:2346 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiac arrest, Myopathy, Left ventricular hypertrophy, Cardiomyopathy, Intrauterine growth retar... |
OMIM:617713 |
| Noonan Syndrome 9 |
|
Coarctation of aorta, Short stature, Pulmonic stenosis, Ventricular septal defect |
OMIM:616559 |
| Vascular Ehlers-Danlos Syndrome |
|
Transient ischemic attack, Mitral valve prolapse, Aplasia/Hypoplasia of the abdominal wall muscul... |
ORPHA:286 |
| Laubry-Pezzi Syndrome |
|
Dilatation of the sinus of Valsalva, Right ventricular outlet tract obstruction, Abnormal coronar... |
ORPHA:99094 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Hepatomegaly, Ventricular tachycardia, Dilated cardiomyopathy |
OMIM:600649 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia |
OMIM:619170 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
| Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia |
OMIM:127000 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Pulmonary artery dilatation, Pulmonary arterial hypertension, Atrial septal defect, Thoracic aort... |
OMIM:613834 |
| Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Hepatomegaly, Bundle branch block, Bradycardia, Epistaxis, Pulmonary arterial hypert... |
ORPHA:99827 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Cardiomegaly, Hepatomegaly, Pulmonary arterial hypertension |
OMIM:619064 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Situs inversus totalis, Pulmonary artery atresia, Dextrocardia, Hypoplasia of right ventricle, Ri... |
OMIM:616749 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatosplenomegaly, Hypoproteinemia, Hypocalcemia, Pulmonary lymphangiectasia, Splenomegaly |
ORPHA:1655 |
| Lethal Congenital Contracture Syndrome 10 |
|
Macroglossia, Torticollis, Ventricular septal defect, Hydrops fetalis, Intrauterine growth retard... |
OMIM:617022 |
| Cantú Syndrome |
|
Umbilical hernia, Abnormal heart valve morphology, Patent ductus arteriosus, Hypertrophic cardiom... |
ORPHA:1517 |
| Celiac Disease, Susceptibility To, 1 |
|
Iron deficiency anemia, Hypocalcemia, Macrocytic anemia, Thrombocytosis |
OMIM:212750 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
| Noonan Syndrome 10 |
|
Increased nuchal translucency, Coarctation of aorta, Mitral regurgitation, Pulmonic stenosis, Atr... |
OMIM:616564 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Sickle Cell Anemia |
|
Reticulocytosis, Leukocytosis, Hemolytic anemia, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Pulmonary arterial hypertension, Postnatal growth retardation, Hypertension, Short stature, Vascu... |
OMIM:613320 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatosplenomegaly, Camptodactyly of finger, Camptodactyly, Pulmonary arterial hypertension, Pulm... |
OMIM:602782 |
| Phace Association |
|
Coarctation of aorta, Ventricular septal defect, Aortic aneurysm, Anomalous branches of internal ... |
OMIM:606519 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemic tetany, Pulmonary edema, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
| Noonan Syndrome 2 |
|
Increased nuchal translucency, Coarctation of aorta, Pulmonic stenosis, Atrial septal defect, Ven... |
OMIM:605275 |
| Neuronopathy, Distal Hereditary Motor, Type X |
|
Small thenar eminence, Descending aortic dissection, Fiber type grouping, Distal lower limb muscl... |
OMIM:620080 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia |
ORPHA:289157 |
| Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Macroglossia, Dehydration, Ventricular septal defect, Umbilical hernia, Intrauterine growth retar... |
ORPHA:96191 |
| Refsum Disease, Classic |
|
Arrhythmia, Cardiomyopathy, Congestive heart failure, Cardiomegaly, Limb muscle weakness |
OMIM:266500 |
| Glycogen Storage Disease Ii |
|
Subarachnoid hemorrhage, Macroglossia, Wolff-Parkinson-White syndrome, Right axis deviation, Sinu... |
OMIM:232300 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Mitral regurgitation, Tricuspid regurgitation, Aortic valve stenosis, Congestive heart failure, A... |
ORPHA:324410 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Pleural effusion, Ventricular septal defect, Hydrops fetalis, Polyhydramnios, Intrauterine growth... |
OMIM:616897 |
| Unclassified Myelodysplastic Syndrome |
|
Leukocytosis, Acute myeloid leukemia |
ORPHA:98827 |
| Gaucher Disease, Type Iiic |
|
Calcification of the aorta, Hepatomegaly, Mitral valve calcification, Splenomegaly, Cardiomegaly,... |
OMIM:231005 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Reduction of neutrophil motility, Impaired oxidative burst, Macrocytic anemia, Impa... |
OMIM:608203 |
| Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Situs inversus totalis, Dextrocardia, Hypoplastic left heart, Right aortic arch, Total anomalous ... |
OMIM:614779 |
| Klippel-Trenaunay-Weber Syndrome |
|
Lymphedema, Arteriovenous fistula |
OMIM:149000 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Fusiform ascending tubular aorta aneurysm, Mitral regurgitation, Aortic root aneurysm, Left ventr... |
OMIM:617168 |
| Glomuvenous Malformation |
|
Gastrointestinal arteriovenous malformation, Venous malformation, Arteriovenous malformation |
ORPHA:83454 |
| Oncogenic Osteomalacia |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
| Arterial Tortuosity Syndrome |
|
Aortic root aneurysm, Generalized arterial tortuosity, Umbilical hernia, Ischemic stroke, Hyperte... |
OMIM:208050 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect |
OMIM:217085 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Increased nuchal translucency, Coarctation of aorta, Atrial septal defect, Ventricular septal def... |
OMIM:618494 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Pulmonary artery atresia, Dextrocardia, Coarctation of aorta, Double inlet left ventricle, Atrial... |
OMIM:270100 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypoplastic left heart, Atrial septal defect, Tetralogy of Fallot, Atrioventricular canal defect,... |
OMIM:265380 |
| Gitelman Syndrome |
|
Rhabdomyolysis, Delayed puberty, Abnormal T-wave, Raynaud phenomenon, Syncope, Palpitations, Low-... |
ORPHA:358 |
| Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic root aneurysm, Aortic regurgitation, Bicuspid aortic valve, Ascending tubular aorta aneury... |
OMIM:619825 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Nonimmune hydrops fetalis, Cardiomegaly, Intrauterine growth retardation |
OMIM:618838 |
| Meacham Syndrome |
|
Situs inversus totalis, Conotruncal defect, Coarctation of aorta, Hypoplastic left heart, Tetralo... |
ORPHA:3097 |
| Acute Monoblastic/Monocytic Leukemia |
|
Leukocytosis, Acute monocytic leukemia, Anemia, Hypochromic anemia, Lymphocytosis |
ORPHA:514 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent streptococcus pneumoniae infections, Aplasia of the thymus, Coombs-positive hemolytic a... |
ORPHA:83471 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fava bean-induced hemolytic anemia, Anisocytosis, Heinz bodies, Leukocytosis, Reticulocytosis, Un... |
OMIM:300908 |
| Proteus Syndrome |
|
Sirenomelia, Arteriovenous malformation, Decreased muscle mass, Pulmonary embolism, Myofibrillar ... |
ORPHA:744 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Systolic heart murmur, Right aortic arch, Atrial septal defect, Tetralogy of Fallot, Ventricular ... |
OMIM:617478 |
| Staphylococcal Necrotizing Pneumonia |
|
Leukocytosis, Leukopenia, Pleural effusion, Pulmonary pneumatocele, Pleural empyema, Elevated cir... |
ORPHA:36238 |
| Juvenile Nephropathic Cystinosis |
|
Hypophosphatemia, Hypouricemia, Hypokalemia, Hyponatremia, Hypocalcemia, Hypocalcemic tetany, Ele... |
ORPHA:411634 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Pulmonary arteriovenous malformation, Stroke, Hematochezia, Hepatic arteriovenous malformation, M... |
OMIM:175050 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, ... |
ORPHA:99125 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Proximal muscle weakness in lower limbs, Reduced left ventricular ejection fraction... |
ORPHA:268 |
| Pseudohypoparathyroidism Type 1C |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis |
ORPHA:79444 |
| Pearson Syndrome |
|
Hypoplastic spleen, Reticulocytosis, Hypophosphatemia, Anemia, Hyperalaninemia, Hypokalemia, Thro... |
ORPHA:699 |
| Non Rare In Europe: Buschke-Ollendorff Syndrome |
|
Hypertension, Short stature, Abnormal aortic morphology, Lymphedema, Flexion contracture, General... |
ORPHA:1306 |
| Acute Panmyelosis With Myelofibrosis |
|
Lymphocytosis, Pancytopenia, Acute myelomonocytic leukemia, Splenomegaly, Acute myeloid leukemia |
ORPHA:86843 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia |
OMIM:618476 |
| Hypophosphatasia, Infantile |
|
Recurrent respiratory infections, Elevated plasma pyrophosphate, Hypercalcemia, Anemia |
OMIM:241500 |
| Mosaic Trisomy 16 |
|
Coarctation of aorta, Atrial septal defect, Ventricular septal defect, Intrauterine growth retard... |
ORPHA:1708 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Distal arthrogryposis, Myopathy, Arrhythmia, Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly |
ORPHA:42 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Eosinophilia, Lymph... |
ORPHA:911 |
| Pagod Syndrome |
|
Situs inversus totalis, Encephalocele, Hypoplastic left heart, Spina bifida, Meningocele, Arrhyth... |
ORPHA:991 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Macroglossia, Vasculitis, Heart murmur, Left ventricular hypertrophy, Abnormal internal carotid a... |
ORPHA:365 |
| Congenital Tracheomalacia |
|
Pulmonary arterial hypertension, Right aortic arch, Atrial septal defect, Tetralogy of Fallot, Ve... |
ORPHA:95430 |
| Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Facial palsy, Coarctation of aorta, Interrupted aortic arch |
OMIM:107550 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Lymphedema |
ORPHA:3137 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Aortic aneurysm, Umbilical hernia, Decreased muscle mass, Wrist drop, Muscle fiber atrophy, Arter... |
ORPHA:1900 |
| Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
| Lethal Acantholytic Erosive Disorder |
|
Hypovolemic shock, Camptodactyly of toe, Cardiomyopathy, Impaired myocardial contractility, Intra... |
ORPHA:158687 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Secundum atrial septal defect, Coarctation of aorta, Atrial septal defect, Ventricular septal def... |
OMIM:600987 |
| Velocardiofacial Syndrome |
|
Pulmonary artery atresia, Unilateral primary pulmonary dysgenesis, Hypocalcemia |
OMIM:192430 |
| Fanconi Anemia, Complementation Group B |
|
Coarctation of aorta, Ventricular septal defect, Intrauterine growth retardation, Patent ductus a... |
OMIM:300514 |
| Infantile Myofibromatosis |
|
Neoplasm of the lung, Hypercalcemia |
ORPHA:2591 |
| Mucopolysaccharidosis, Type Iiib |
|
Asymmetric septal hypertrophy, Cardiomegaly, Hepatomegaly, Splenomegaly |
OMIM:252920 |
| Ethylene Glycol Poisoning |
|
Pulmonary edema, Hypocalcemia, Hyperkalemia |
ORPHA:31826 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Exercise-induced rhabdomyolysis, Reduced left ventricular ejection fraction, Hepatomegaly, Sudden... |
OMIM:201475 |
| Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
| Arterial Tortuosity Syndrome |
|
Myocarditis, Cardiac arrest, Aortic root aneurysm, Aortic aneurysm, Telangiectasia of the skin, H... |
ORPHA:3342 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypocalcemia |
ORPHA:746 |
| Sifrim-Hitz-Weiss Syndrome |
|
Coarctation of aorta, Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Short... |
OMIM:617159 |
| Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Aortic aneurysm, Ascending aortic dissection, Descending aortic dissection |
OMIM:617349 |
| Acrocardiofacial Syndrome |
|
Camptodactyly of finger, Coarctation of aorta, Atrial septal defect, Tetralogy of Fallot, Ventric... |
ORPHA:2008 |
| Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Macroglossia, Left ventricular hypertrophy, Left ventricular outflow tract obstruction, Hepatomeg... |
ORPHA:308552 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Skeletal muscle atrophy, Coarctation of aorta, Pulmonic stenosis |
OMIM:614300 |
| Hyperparathyroidism, Neonatal Severe |
|
Hypercalcemia, Hypophosphatemia, Anemia, Splenomegaly, Calcinosis |
OMIM:239200 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Diffuse alveolar hemorrhage, Hepatomegaly, Heart murmur, Cardiomegaly |
ORPHA:99931 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Anemia, Unconjugated hyperbilirubinemia, Hypocalcemia, Pancytopenia, Emphysema, Abnormal pulmonar... |
OMIM:613658 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent respiratory infections, Hypophosphatemia, Anemia, Hypocalcemia, Pulmonary artery stenos... |
ORPHA:667 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Elliptocytosis, Leukopenia, Anemia, Elevated circulating creatine kinase concentration, Thrombocy... |
ORPHA:2785 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Hypertension, Cerebral hemorrhage |
OMIM:618886 |
| Chédiak-Higashi Syndrome |
|
Hepatosplenomegaly, Edema, Pericardial effusion, Pleural effusion, Epistaxis, Splenomegaly |
ORPHA:167 |
| Pseudohypoparathyroidism Type 1A |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Calcinosis |
ORPHA:79443 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Coarctation of aorta, Atrial septal defect, Ventricular septal defect, Rhizomelia, Intrauterine g... |
OMIM:614114 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
