Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Cardiomyopathy, Dilated, 1B |
|
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial con... |
OMIM:600884 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Intrauterine growth retardation, Anemia |
ORPHA:2802 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Familial Dysfibrinogenemia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding |
ORPHA:98881 |
Familial Hypofibrinogenemia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding |
ORPHA:101041 |
Trimethylaminuria |
|
Tachycardia, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
Telangiectasia, Hereditary Benign |
|
Diffuse telangiectasia, Vascular dilatation |
OMIM:187260 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Aneurysm Of Interventricular Septum |
|
Vascular dilatation |
OMIM:105805 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Takayasu Arteritis |
|
Myocardial infarction, Vascular dilatation, Vasculitis, Arterial stenosis, Anemia, Hypertension, ... |
ORPHA:3287 |
Vein Of Galen Aneurysmal Malformation |
|
Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology |
ORPHA:1053 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Vascular dilatation |
ORPHA:2924 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Agenesis of cerebellar vermis, Posterior fossa cyst at the fourth ventricle, Vascular dilatation,... |
OMIM:220220 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Short stature, Anemia of inadequate production, Anisocytosis, Sple... |
OMIM:615631 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Vascular Hyalinosis |
|
Hematochezia, Cerebral calcification, Vascular dilatation, Subarachnoid hemorrhage |
OMIM:277175 |
Dural Sinus Malformation |
|
Cerebral hemorrhage, Subarachnoid hemorrhage, Vascular dilatation, Myelopathy, Cerebellar hemorrh... |
ORPHA:97339 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
Congenital Atransferrinemia |
|
Abnormality of the pancreas, Anemia |
ORPHA:1195 |
Niemann-Pick Disease, Type B |
|
Recurrent respiratory infections, Hepatomegaly, Short stature, Bone-marrow foam cells, Splenomega... |
OMIM:607616 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Anemia |
OMIM:611283 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Peripheral arteriovenous fistula, Pulmonary... |
ORPHA:90308 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Reticulocytosis, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology, Aplasia/Hypoplasia of the corpus callosum |
ORPHA:1705 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Hypertrophic cardiomyopathy, Anemia, Intrauterine growth retardation |
ORPHA:295 |
Wyburn-Mason Syndrome |
|
Peripheral arteriovenous fistula, Epistaxis, Subarachnoid hemorrhage, Abnormal cerebral vascular ... |
ORPHA:53719 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Congestive heart failure, Heart murmur, Dilatation of the cerebral arter... |
ORPHA:615 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Cardiomyopat... |
OMIM:613313 |
Familial Aortic Dissection |
|
Aortic regurgitation, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Descending ao... |
ORPHA:229 |
Eosinophilia, Familial |
|
Eosinophilia, Recurrent bronchitis, Thrombocytopenia, Leukocytosis, Anemia |
OMIM:131400 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... |
OMIM:132900 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... |
ORPHA:766 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Right ventricular f... |
ORPHA:99095 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:616860 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Intrauterine growth retardation, Vascular dilatation, Neutropenia |
OMIM:617056 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Bleeding Disorder, Platelet-Type, 19 |
|
Abnormal bleeding, Epistaxis, Thrombocytopenia, Macrothrombocytopenia, Spontaneous hematomas, Men... |
OMIM:616176 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Parkes Weber Syndrome |
|
Abnormal bleeding, Peripheral arteriovenous fistula, Subarachnoid hemorrhage, Cerebral arterioven... |
ORPHA:90307 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... |
OMIM:615745 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Abnormal cardiac ventricular function, Anemia of inadequate... |
ORPHA:98826 |
Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Congestive heart failure, Heart mu... |
ORPHA:3400 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Anemia |
OMIM:617408 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy... |
OMIM:206100 |
Hydrops Fetalis, Nonimmune |
|
Congestive heart failure, Anemia |
OMIM:236750 |
Diamond-Blackfan Anemia 9 |
|
Growth delay, Anemia |
OMIM:613308 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Prolonged bl... |
ORPHA:169802 |
Fibromuscular Dysplasia, Arterial |
|
Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudication, Aortic disse... |
OMIM:135580 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Cerebral calcification, Angina pectoris, Telangiectasia of the skin,... |
ORPHA:758 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph... |
OMIM:613101 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti... |
OMIM:613673 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly |
OMIM:608898 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Growth delay, Decreased mean corpuscular volume, Poikilocytosis, Elev... |
OMIM:615234 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Abnormal bleeding, Muscle fiber atrophy, Decreased muscle mass, Congestive heart failure, Elbow f... |
ORPHA:1900 |
Immunodeficiency 32B |
|
Recurrent respiratory infections, Hepatomegaly, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia,... |
OMIM:226990 |
Immunodeficiency 102 |
|
Hepatomegaly, Nodular regenerative hyperplasia of liver, Autoimmune thrombocytopenia, Recurrent u... |
OMIM:301082 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Anemia, Purpura, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Portal vei... |
ORPHA:3202 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Pro... |
ORPHA:398124 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Cardiomyopathy, Cirrhosis, Arrhythmia, Hepatic steatosis, Anemia |
OMIM:606069 |
Coach Syndrome 1 |
|
Encephalocele, Occipital encephalocele, Cerebellar vermis hypoplasia, Portal hypertension, Aplasi... |
OMIM:216360 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Abnormal cerebral vascular morphology, Microcephaly, Patent ductus arteriosus, Arterial stenosis,... |
ORPHA:2637 |
Phace Association |
|
Anomalous branches of internal carotid artery, Optic nerve hypoplasia, Patent ductus arteriosus, ... |
OMIM:606519 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Tachycardia, Abnormal coronary artery morphology, Cardia... |
ORPHA:860 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy... |
ORPHA:85451 |
Thrombocytopenia 5 |
|
Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... |
OMIM:616216 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Mild postnatal growth retardation, Anisocytosis,... |
OMIM:224120 |
Acute Erythroid Leukemia |
|
Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia |
ORPHA:318 |
Arterial Tortuosity Syndrome |
|
Aortic dissection, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive ... |
ORPHA:3342 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Pancytopenia, Aplastic anemia, Anemia, Pulmonary fibrosis, Cirrhosis, Reticular pattern on pulmon... |
OMIM:614742 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... |
ORPHA:848 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Interstitial pneumoniti... |
OMIM:620296 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Vascular dilatation |
OMIM:614859 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Cortical dysplasia, Varicose veins, Hypoplasia of the brainstem, Camptodactyly, Cerebellar hypopl... |
OMIM:618343 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia |
ORPHA:163596 |
Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Total anomalous pulmonary venous return, Anemia |
OMIM:618313 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Thrombocytopenia, Abnormal pu... |
OMIM:230800 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Overriding aorta, Extramedullary hematopoiesis, Thrombocytopenia, Patent du... |
OMIM:617021 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... |
ORPHA:64743 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxi... |
ORPHA:99147 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Short stature, Anisocytosis, Abnormal erythrocyte morphology, Mele... |
ORPHA:98870 |
Bone Marrow Failure Syndrome 4 |
|
Recurrent respiratory infections, Short stature, Rhizomelia, Anemia, Leukopenia, Thrombocytopenia |
OMIM:618116 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Centrally nucleated skeletal muscle fibe... |
OMIM:613327 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension, Vascular dilatation |
OMIM:613320 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Congestive heart failure, ... |
ORPHA:3092 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Microcephaly, Venous insufficiency, Aplasia/Hypoplasia of the abdomi... |
ORPHA:565 |
Noonan Syndrome With Multiple Lentigines |
|
Bundle branch block, Scapular winging, Myocardial infarction, Aplasia/Hypoplasia of the abdominal... |
ORPHA:500 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Tachycardia, Internal hemorrhage, Splenic rupture, Prolonged prothrombin time,... |
ORPHA:335 |
Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia |
OMIM:187800 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vascular dilatation |
OMIM:617219 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... |
ORPHA:91387 |
Gastritis, Familial Giant Hypertrophic |
|
Vascular dilatation |
OMIM:137280 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:278000 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenome... |
OMIM:612840 |
Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage,... |
ORPHA:49566 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Jaundice, Sphero... |
ORPHA:71275 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopathy, Strok... |
ORPHA:563 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Bone Marrow Failure Syndrome 5 |
|
Short stature, Pure red cell aplasia, Erythroid hypoplasia, Growth delay, Pulmonary fibrosis, Anemia |
OMIM:618165 |
Hereditary Spherocytosis |
|
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Restri... |
ORPHA:822 |
Felty Syndrome |
|
Recurrent respiratory infections, Hepatomegaly, Sinusitis, Pericarditis, Recurrent pharyngitis, S... |
ORPHA:47612 |
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 |
Tako-Tsubo Cardiomyopathy |
|
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... |
ORPHA:66529 |
Rhabdoid Tumor |
|
Hypertension, Thrombocytopenia, Internal hemorrhage, Anemia |
ORPHA:69077 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... |
ORPHA:906 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibili... |
OMIM:300367 |
Glossopharyngeal Neuralgia |
|
Syncope, Jaw claudication, Bradycardia, Vascular dilatation |
ORPHA:221098 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Growth delay, Anemia |
OMIM:611490 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Cardiomyopathy, Decreased liver function, Neonatal death, Intrauterine growth retardation, Anemia |
OMIM:618839 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased liver function, Neonatal death, Intrauterine growth retardation, Hypertrophic cardiomyo... |
OMIM:618835 |
Diabetic Embryopathy |
|
Microcephaly, Aplasia/Hypoplasia of the abdominal wall musculature, Tetralogy of Fallot, Aplasia/... |
ORPHA:1926 |
Stormorken Syndrome |
|
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocyto... |
OMIM:185070 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, Neutropenia,... |
OMIM:618849 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... |
OMIM:185000 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Thrombocytopenia, Pulmonary fibrosis, Emphysema, Lymphopenia, Anemia |
OMIM:620365 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Liver abscess, Neutrophilia, Abnormality of the pancreas, Abnormal... |
ORPHA:54251 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Microcephaly, Conges... |
ORPHA:90349 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Persistence of primary teeth, ... |
OMIM:259710 |
Loeys-Dietz Syndrome |
|
Abnormal bleeding, Cardiac arrest, Camptodactyly of finger, Arterial tortuosity, Patent ductus ar... |
ORPHA:60030 |
Partial Atrioventricular Septal Defect |
|
Atrial flutter, Angina pectoris, Transient ischemic attack, Patent ductus arteriosus, Tetralogy o... |
ORPHA:1330 |
Icf Syndrome |
|
Recurrent respiratory infections, Short stature, Abnormality of neutrophils, Micrognathia, Umbili... |
ORPHA:2268 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Di... |
OMIM:609040 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Abno... |
ORPHA:79124 |
Cardiac Diverticulum |
|
Ventricular tachycardia, Pulmonary artery hypoplasia, Abnormal EKG, Patent ductus arteriosus, Pul... |
ORPHA:1686 |
Aneurysm-Osteoarthritis Syndrome |
|
Aortic regurgitation, Atrial fibrillation, Left ventricular hypertrophy, Camptodactyly of finger,... |
ORPHA:284984 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Abnormal pulmonary int... |
ORPHA:77259 |
Systemic Sclerosis |
|
Pericarditis, Nail bed telangiectasia, Right ventricular failure, Raynaud phenomenon, Myocarditis... |
ORPHA:90291 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Growth... |
ORPHA:300298 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Anemia |
OMIM:618182 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Carious teeth, Thrombocytopenia, Hepatic necrosis, Leukopenia, Interstitial pneu... |
OMIM:127550 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Reticulocytopenia, Retinal hemorrhage, Anemia, Neutropenia, Thrombocytop... |
ORPHA:88 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Arrhythmia, Abnormal aortic morphology, Cardiomyopathy |
ORPHA:3222 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Vascular dilatation |
OMIM:277320 |
Gamma-Heavy Chain Disease |
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Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmune thrombocy... |
ORPHA:100026 |
Renal Nutcracker Syndrome |
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Orthostatic hypotension, Tachycardia, Vulval varicose vein, Varicose veins, Syncope, Renal artery... |
ORPHA:71273 |
Glycogen Storage Disease Xii |
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Normocytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Elevated circulating alan... |
OMIM:611881 |
Aortic Valve Disease 2 |
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Aortic regurgitation, Calcification of the aorta, Coarctation of aorta, Mitral regurgitation, Asc... |
OMIM:614823 |
Fanconi Anemia, Complementation Group V |
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Anemia, Short stature, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Scimitar Syndrome |
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Left-to-right shunt, Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery ... |
ORPHA:185 |
Ventriculomegaly With Defects Of The Radius And Kidney |
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Vascular dilatation |
OMIM:602200 |
Congenital Heart Defects, Multiple Types, 6 |
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Hypoplastic pulmonary veins, Left ventricular outflow tract obstruction, Coarctation of aorta, Ri... |
OMIM:613854 |
Congenital Heart Defects, Multiple Types, 7 |
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Aortopulmonary collateral arteries, Right aortic arch, Pulmonic stenosis, Pulmonary artery atresi... |
OMIM:618780 |
Meckel Syndrome, Type 1 |
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Accessory spleen, Occipital encephalocele, Camptodactyly of finger, Microcephaly, Vascular dilata... |
OMIM:249000 |
Sitosterolemia 1 |
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Abnormal bleeding, Reticulocytosis, Carotid artery stenosis, Thrombocytopenia, Splenomegaly, Gian... |
OMIM:210250 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
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Delayed eruption of teeth, Noncompaction cardiomyopathy, Tricuspid regurgitation, Short stature, ... |
ORPHA:508542 |
Orofaciodigital Syndrome I |
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Abnormal cortical gyration, Microcephaly, Myelomeningocele, Porencephalic cyst, Cerebral atrophy,... |
OMIM:311200 |
Amoebiasis Due To Entamoeba Histolytica |
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Elevated hepatic transaminase, Lung abscess, Liver abscess, Congestive heart failure, Leukocytosi... |
ORPHA:67 |
Autosomal Dominant Hyper-Ige Syndrome |
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Eosinophilia, Vascular dilatation |
ORPHA:2314 |
Duane-Radial Ray Syndrome |
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Facial palsy, Spina bifida occulta, Small thenar eminence, Pectoralis hypoplasia, Upper limb musc... |
OMIM:607323 |
Arteriosclerosis, Severe Juvenile |
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Myocardial infarction, Central retinal vessel vascular tortuosity, Calcification of the aorta, Ar... |
OMIM:208060 |
Hellp Syndrome |
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Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Prolo... |
ORPHA:244242 |
Cutis Laxa, Autosomal Recessive, Type Ic |
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Accessory spleen, Posterolateral diaphragmatic hernia, Morgagni diaphragmatic hernia, Vascular di... |
OMIM:613177 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
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Epistaxis, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Telangiecta... |
OMIM:175050 |
Aortic Arch Interruption |
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Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... |
ORPHA:2299 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
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Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Omenn Syndrome |
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Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... |
OMIM:603554 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
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Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Senior-Loken Syndrome 8 |
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Vascular dilatation |
OMIM:616307 |
Cardiomyopathy, Dilated, 1S |
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Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ... |
OMIM:613426 |
Gmppb-Related Limb-Girdle Muscular Dystrophy R19 |
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Proximal muscle weakness in upper limbs, Microcephaly, Dilatation of the ventricular cavity, Card... |
ORPHA:363623 |
Crimean-Congo Hemorrhagic Fever |
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Bundle branch block, Abnormal left ventricular function, Leukopenia, Ecchymosis, Internal hemorrh... |
ORPHA:99827 |
Inhalational Anthrax |
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Internal hemorrhage, Hypotension |
ORPHA:247257 |
Pagod Syndrome |
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Encephalocele, Sudden cardiac death, Spina bifida, Microcephaly, Abnormality of the spleen, Conge... |
ORPHA:991 |
Postinfectious Vasculitis |
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Cerebral vasculitis, Palpable purpura, Raynaud phenomenon, Cardiomyopathy, Hypertension, Ischemic... |
ORPHA:48435 |
Hemorrhagic Fever-Renal Syndrome |
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Shock, Tachycardia, Epistaxis, Hematemesis, Thrombocytopenia, Leukocytosis, Capillary leak, Intra... |
ORPHA:340 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
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Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia |
OMIM:612924 |
Osteopetrosis, Autosomal Recessive 3 |
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Extramedullary hematopoiesis, Short stature, Dental malocclusion, Hepatosplenomegaly, Anemia |
OMIM:259730 |
Relapsing Polychondritis |
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Pericarditis, Myocarditis, Large vessel vasculitis, Biparietal narrowing, Vascular dilatation, Pu... |
ORPHA:728 |
Vascular Ehlers-Danlos Syndrome |
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Abnormal bleeding, Peripheral arteriovenous fistula, Telangiectasia of the skin, Transient ischem... |
ORPHA:286 |
Ventriculomegaly With Cystic Kidney Disease |
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Vascular dilatation |
OMIM:219730 |
Superficial Siderosis |
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Abnormal bleeding, Lower limb muscle weakness, Subarachnoid hemorrhage, Abnormal vertebral artery... |
ORPHA:247245 |
Hydranencephaly |
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Optic nerve hypoplasia, Antenatal intracerebral hemorrhage, Abnormal internal carotid artery morp... |
ORPHA:2177 |
Marfan Syndrome |
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Skeletal muscle atrophy, Congestive heart failure, Descending aortic dissection, Meningocele, Dil... |
ORPHA:558 |
Loeys-Dietz Syndrome 2 |
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Aortic arch aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arte... |
OMIM:610168 |
Orofaciodigital Syndrome Type 1 |
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Vascular dilatation, Hypertension, Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:2750 |
Waardenburg Syndrome, Type 2E |
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Vascular dilatation |
OMIM:611584 |
Occipital Horn Syndrome |
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Cerebral calcification, Venous insufficiency, Bruising susceptibility, Vascular dilatation |
ORPHA:198 |
Familial Bicuspid Aortic Valve |
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Aortic regurgitation, Aortic arch aneurysm, Heart murmur, Coarctation of aorta, Hypertension, Asc... |
ORPHA:402075 |
Marburg Hemorrhagic Fever |
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Abnormal bleeding, Shock, Tachycardia, Pericarditis, Reticulocytosis, Lymphopenia, Excessive blee... |
ORPHA:99826 |
Fibromuscular Dysplasia, Multifocal |
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Tortuous cerebral arteries, Vertebral artery tortuosity, Celiac artery dissection, Dilatation of ... |
OMIM:619329 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
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Congenital diaphragmatic hernia, Vascular dilatation |
OMIM:617641 |
Loeys-Dietz Syndrome 1 |
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Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Aortic root an... |
OMIM:609192 |
Multiple Osteochondromas |
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Cervical myelopathy, Pseudoaneurysm, Hemothorax |
ORPHA:321 |
Yellow Fever |
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Abnormal bleeding, Shock, Neutrophilia, Supraventricular arrhythmia, Excessive bleeding after a v... |
ORPHA:99829 |
Currarino Syndrome |
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Vascular dilatation |
OMIM:176450 |
Autosomal Dominant Cutis Laxa |
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Aortic regurgitation, Microcephaly, Congestive heart failure, Dilatation of the ventricular cavit... |
ORPHA:90348 |
Johanson-Blizzard Syndrome |
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Portal hypertension, Microcephaly, Splenomegaly, Dilated cardiomyopathy, Severe intrauterine grow... |
OMIM:243800 |
Tuberous Sclerosis Complex |
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Cortical dysplasia, Internal hemorrhage, Aortic aneurysm, Hypertension, Cortical tubers, Pulmonar... |
ORPHA:805 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
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Aortic regurgitation, Dilatation of the ventricular cavity, Thickened Achilles tendon |
ORPHA:85438 |
Liver Disease, Severe Congenital |
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Macrocephaly at birth, Splenomegaly, Patent ductus arteriosus, Dilatation of the ventricular cavi... |
OMIM:619991 |
Saethre-Chotzen Syndrome |
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Hypoplasia of the maxilla, Malar flattening, Cleft of chin, Short stature |
OMIM:101400 |
Branchiooculofacial Syndrome |
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Micrognathia, Postnatal growth retardation, Cleft of chin, Branchial anomaly, Malar flattening, I... |
OMIM:113620 |