Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Pulmonary arterial hypertension, Elevated jugular venous pressure, Abnormally loud pulmonic compo... |
OMIM:265450 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Idiopathic Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Pedal edema, Heart murmur, S... |
ORPHA:275766 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary arterial hypertension, Pulmonary capillary hemangiomatosis, Dyspnea, Cough, Pulmonary v... |
OMIM:234810 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Pulmonary arterial hypertension, Myofiber disarray, Apical hypertrophic cardiomyopathy, Left vent... |
OMIM:613255 |
Pulmonary Hypertension, Primary, 1 |
|
Pulmonary arterial hypertension, Telangiectasia, Pulmonary arterial medial hypertrophy, Arterial ... |
OMIM:178600 |
Familial Isolated Restrictive Cardiomyopathy |
|
Interstitial cardiac fibrosis, Pulmonary edema, Supraventricular arrhythmia, Syncope, Hypertrophi... |
ORPHA:75249 |
Amegakaryocytic Thrombocytopenia, Congenital |
|
Amegakaryocytic thrombocytopenia, Thrombocytopenia, Pancytopenia |
OMIM:604498 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
Heparin-Induced Thrombocytopenia |
|
Pulmonary embolism, Cerebral ischemia, Autoimmune thrombocytopenia, Myocardial infarction, Stroke... |
ORPHA:3325 |
Lymphedema And Cerebral Arteriovenous Anomaly |
|
Pulmonary arterial hypertension, Lymphedema, Abnormal cerebral vascular morphology |
OMIM:152900 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Incre... |
OMIM:615396 |
Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... |
OMIM:115197 |
Coronary Arterial Fistula |
|
Pedal edema, Systolic heart murmur, Angina pectoris, Abnormal left ventricular function, Palpitat... |
ORPHA:2041 |
Lymphatic Malformation 7 |
|
Anemia, Pulmonary edema, Lymphedema, Pericardial effusion, Respiratory distress, Atrial septal de... |
OMIM:617300 |
Congenital Gerbode Defect |
|
Pedal edema, Systolic heart murmur, Crackles, Palpitations, Peripheral edema, Elevated right atri... |
ORPHA:99095 |
Thrombocytopenia 7 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619130 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Left ventricular outflow tract obstruction, Abnormal aortic arch morphology, Biventricular hypert... |
ORPHA:860 |
Bronchopulmonary Dysplasia |
|
Tracheobronchomalacia, Hyperoxemia, Pulmonary sequestration, Abnormal respiratory system physiolo... |
ORPHA:70589 |
Pulmonary Capillary Hemangiomatosis |
|
Elevated pulmonary artery pressure, Pedal edema, Exertional dyspnea, Hemothorax, Pulmonary edema,... |
ORPHA:199241 |
Aneurysm, Intracranial Berry, 12 |
|
Fusiform cerebral aneurysm, Arterial fibromuscular dysplasia, Cerebral berry aneurysm, Subarachno... |
OMIM:618734 |
Absence Of The Pulmonary Artery |
|
Pedal edema, Systolic heart murmur, Truncus arteriosus, Bronchiectasis, Abnormal cardiac septum m... |
ORPHA:980 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Atrial Septal Defect, Sinus Venosus Type |
|
Systolic heart murmur, Supraventricular arrhythmia, Premature atrial contractions, Airway obstruc... |
ORPHA:99105 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Pedal edema, Heart murmur, Elevated jugular venous pressure, Syn... |
ORPHA:422 |
Familial Dilated Cardiomyopathy |
|
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Coronary artery a... |
ORPHA:217607 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Peripartum Cardiomyopathy |
|
Pedal edema, Sinus tachycardia, Cardiogenic shock, Crackles, Palpitations, Peripheral edema, Exer... |
ORPHA:563 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Pulmonary Hypertension, Primary, 5 |
|
Pulmonary arterial hypertension, Exertional dyspnea, Syncope, Angina pectoris, Right ventricular ... |
OMIM:265400 |
Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... |
ORPHA:57777 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Splenomegaly, Hydrops fetalis, Chylopericardium, Congestive hear... |
ORPHA:2414 |
Truncus Arteriosus |
|
Hypoplasia of the thymus, Truncus arteriosus, Pulmonary hypoplasia, Pulmonary artery stenosis, Ve... |
ORPHA:3384 |
Eosinophilia, Familial |
|
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia |
OMIM:131400 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Endocardial fibroelastosis, Impaired myocardial contractility, Left ventricular diastolic dysfunc... |
OMIM:618052 |
Scimitar Syndrome |
|
Pneumothorax, Truncus arteriosus, Hypoplasia of the diaphragm, Pulmonary hypoplasia, Heart block,... |
ORPHA:185 |
Total Anomalous Pulmonary Venous Return 1 |
|
Pulmonary arterial hypertension, Dextrocardia, Recurrent respiratory infections, Total anomalous ... |
OMIM:106700 |
Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:615193 |
Adult Acute Respiratory Distress Syndrome |
|
Hypotension, Pulmonary edema, Hypoxemia, Shock, Dyspnea, Abnormal blood gas level, Respiratory fa... |
ORPHA:70578 |
Interstitial Lung Disease 2 |
|
Pulmonary arterial hypertension, Elevated bronchoalveolar lavage fluid neutrophil proportion, Exe... |
OMIM:178500 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Bone marrow hypocellularity, Hepatomegaly, Hypochromic anemia, Thrombocyt... |
ORPHA:75564 |
Cardiomyopathy, Dilated, 2C |
|
Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced left ventricular ejection fraction |
OMIM:618189 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity |
OMIM:615715 |
Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Respiratory distress, Edema, Dyspnea, Neonatal respiratory distress, Atelectasis... |
OMIM:267450 |
Aorta Coarctation |
|
Pulmonary arterial hypertension, Aortic valve atresia, Patent ductus arteriosus, Perimembranous v... |
ORPHA:1457 |
Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, ... |
OMIM:187800 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Pleural effusion, Palpitations, Abnormal vena cava morphology, Hepatomegaly, Peripheral edema, Tr... |
ORPHA:1677 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Factor V Excess With Spontaneous Thrombosis |
|
Pulmonary embolism, Peripheral arterial stenosis |
OMIM:134400 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia |
ORPHA:981 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume |
OMIM:252270 |
Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Respiratory tract infection, Pulmonary edema, Cardiac arrest, Nasal flaring, Hypoxem... |
ORPHA:70587 |
Erythrocytosis, Familial, 2 |
|
Pulmonary arterial hypertension, Hypotension, Increased red blood cell mass, Cerebral hemorrhage,... |
OMIM:263400 |
Takayasu Arteritis |
|
Pulmonary arterial hypertension, Anemia, Ascending tubular aorta aneurysm, Vascular dilatation, C... |
ORPHA:3287 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Aneurysm, Intracranial Berry, 1 |
|
Dilatation of the cerebral artery, Intracranial hemorrhage |
OMIM:105800 |
Aneurysm, Intracranial Berry, 2 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage |
OMIM:608542 |
Pulmonary Arteriovenous Malformation |
|
Pulmonary arterial hypertension, Pulmonary hemorrhage, Telangiectasia, Bacterial endocarditis, Is... |
ORPHA:2038 |
Cardiomyopathy, Dilated, 2G |
|
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... |
OMIM:619897 |
Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
Circumvallate Placenta Syndrome |
|
Polyhydramnios, Intracranial hemorrhage |
OMIM:215550 |
Spastic Paraplegia And Evans Syndrome |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia |
OMIM:601608 |
Complete Atrioventricular Septal Defect |
|
Systolic heart murmur, Crackles, Displacement of the papillary muscles, Hepatomegaly, Abnormal P ... |
ORPHA:1329 |
Atrial Septal Defect, Coronary Sinus Type |
|
Systolic heart murmur, Supraventricular arrhythmia, Palpitations, Pneumonia, Exertional dyspnea, ... |
ORPHA:99104 |
Isovaleric Acidemia |
|
Cerebellar hemorrhage, Leukopenia, Pancytopenia, Bone marrow hypocellularity, Dehydration, Thromb... |
OMIM:243500 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Intraalveolar phosph... |
ORPHA:217563 |
Tako-Tsubo Cardiomyopathy |
|
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... |
ORPHA:66529 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Thrombocytopenia, Leukemia |
OMIM:133180 |
Klippel-Trénaunay Syndrome |
|
Respiratory insufficiency, Pulmonary embolism, Patent ductus arteriosus, Hydrops fetalis, Congest... |
ORPHA:90308 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
Systemic Capillary Leak Syndrome |
|
Hypotension, Pedal edema, Pulmonary edema, Pleural effusion, Pericarditis, Cardiorespiratory arre... |
ORPHA:188 |
Platelet Signal Processing Defect |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet a... |
OMIM:173590 |
Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Pulmonary artery dilatation, Airway obstruction, Palpitations, Peripheral ... |
ORPHA:99106 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Tetralogy of Fallot, Atrial septal defect |
OMIM:300887 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Anemia, Myeloid leukemia, Usual interstitial pneumonia, Reticular pattern on pulmonary HRCT, Panc... |
OMIM:614742 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Thrombocytopenia, Macrothrombocytopenia |
OMIM:616176 |
Atrial Septal Defect, Ostium Secundum Type |
|
Pedal edema, Systolic heart murmur, Supraventricular arrhythmia, Breathing dysregulation, Abnorma... |
ORPHA:99103 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Bicuspid aortic valve, Hypertension, A... |
OMIM:613355 |
Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Pedal edema, Abnormal pulmonary interstitia... |
ORPHA:330001 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left ventricular outflow tract obstruction, Aortopulmonary window, Pulmonary hypoplasia, Abnormal... |
ORPHA:99050 |
Hughes-Stovin Syndrome |
|
Pulmonary arterial hypertension, Pulmonary embolism, Pedal edema, Pulmonary artery aneurysm, Arte... |
ORPHA:228116 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc... |
OMIM:619041 |
Allergic Bronchopulmonary Aspergillosis |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Bronchiectasis, Asthma, Abnormal eosi... |
ORPHA:1164 |
Congenital Factor V Deficiency |
|
Persistent bleeding after trauma, Post-partum hemorrhage, Intracranial hemorrhage, Bruising susce... |
ORPHA:326 |
Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Cerebral cavernous malformation |
OMIM:116860 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Abnormal macrophage morp... |
ORPHA:353 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619271 |
Sarcoidosis, Susceptibility To, 2 |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pneumothorax, Bronch... |
OMIM:612387 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Shortened PR in... |
OMIM:261740 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Pulmonary embolism, Venous insufficiency, Purpura, Abnormal cerebral vascular morphology |
ORPHA:745 |
Nephrosialidosis |
|
Pericardial effusion, Ascites, Bone-marrow foam cells |
OMIM:256150 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Lymphocytosis, Recurrent pharyngitis, Pancytopenia, Thrombocytopenia, Hemophagocytos... |
OMIM:308240 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Musc... |
OMIM:253700 |
Cardiomyopathy, Dilated, 1S |
|
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:613426 |
Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Hypoxemia, Abnor... |
ORPHA:555874 |
Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Camptodactyly, Congestive heart failure, Respiratory distress, T... |
OMIM:619751 |
Gaucher Disease, Type I |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Anemia, Hypersplenis... |
OMIM:230800 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Pulmonary arterial hypertension, Intraalveolar phospholipid accumulation, Desquamative interstiti... |
OMIM:265120 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary arterial hypertension, Pulmonary hypoplasia, Nonimmune hydrops fetalis, Neonatal respir... |
OMIM:619003 |
Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
Antithrombin Iii Deficiency |
|
Pulmonary embolism, Arterial occlusion |
OMIM:613118 |
Pleural Mesothelioma |
|
Abnormal pleura morphology, Abnormal respiratory system physiology, Respiratory distress, Pleural... |
ORPHA:50251 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Aortic arch aneurysm, Common carotid a... |
OMIM:613834 |
Classic Multiminicore Myopathy |
|
Multiple joint contractures, Nocturnal hypoventilation, Muscle fiber atrophy, Generalized amyotro... |
ORPHA:324604 |
Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
Catastrophic Antiphospholipid Syndrome |
|
Pulmonary arterial hypertension, Pulmonary embolism, Arterial occlusion, Transient ischemic attac... |
ORPHA:464343 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia |
ORPHA:517 |
Fetal Gaucher Disease |
|
Flexion contracture, Hydrops fetalis, Intracranial hemorrhage, Arthrogryposis multiplex congenita... |
ORPHA:85212 |
Acute Erythroid Leukemia |
|
Leukopenia, Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypercellularity, Bone marrow... |
ORPHA:318 |
Congenital Factor Ii Deficiency |
|
Post-partum hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracranial hemorr... |
ORPHA:325 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Pulmonary embolism, Abnormal cerebral vascular morphology, Subcutaneous hemorrhage, Purpura, Veno... |
ORPHA:743 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Cerebral edema, Abnormal cerebral artery morphology, Ischemic stroke, Cerebral hemorrhage, Transi... |
ORPHA:284388 |
Familial Cervical Artery Dissection |
|
Cerebral ischemia, Transient ischemic attack, Arterial fibromuscular dysplasia, Hypertension, Str... |
ORPHA:36382 |
Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Left atrial enlargement, Decreased muscle glycogen content, Stroke,... |
OMIM:611556 |
Congenital Fibrinogen Deficiency |
|
Subcutaneous hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Left ventricular h... |
ORPHA:335 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Stroke, Intracranial hemorrhage, Cerebral hemorrhage |
OMIM:105150 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Telangiectasia, Cerebral hemorrhage |
OMIM:603284 |
Yellow Nail Syndrome |
|
Pulmonary arterial hypertension, Rhinitis, Bronchiectasis, Lymphedema, Pleuritis, Hypoplasia of l... |
ORPHA:662 |
Lymphatic Malformation 8 |
|
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge... |
OMIM:618773 |
Factor Xiii, A Subunit, Deficiency Of |
|
Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracran... |
OMIM:613225 |
Thrombophilia Due To Thrombomodulin Defect |
|
Pulmonary embolism |
OMIM:614486 |
Cardiomyopathy, Dilated, 2D |
|
Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:619371 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
Craniofaciofrontodigital Syndrome |
|
Polyhydramnios, Abnormal cerebral vascular morphology, Pericardial effusion, Persistent fetal cir... |
ORPHA:363705 |
Limited Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Foot joint contracture, Mucosal telangiectasiae, Joint contractu... |
ORPHA:220402 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Primary Myelofibrosis |
|
Anemia, Abnormal megakaryocyte morphology, Petechiae, Extramedullary hematopoiesis, Abnormal blee... |
ORPHA:824 |
Abetal34V Amyloidosis |
|
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology |
ORPHA:324703 |
Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia |
OMIM:615593 |
Thrombophilia, X-Linked, Due To Factor Viii Defect |
|
Pulmonary embolism |
OMIM:301071 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Reduced left ventricular ejection fraction, Pulmonary edema, Hypoxemia, Heart block,... |
ORPHA:542323 |
Moderate Hemophilia A |
|
Subcutaneous hemorrhage, Epidural hemorrhage, Abnormal bleeding, Intracranial hemorrhage, Bleedin... |
ORPHA:169805 |
Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Systolic heart murmur, Left ventricular outflow tract obstruction,... |
ORPHA:3092 |
Fanconi-Like Syndrome |
|
Recurrent lower respiratory tract infections, Pancytopenia, Multiple bilateral pneumothoraces |
OMIM:227850 |
Combined Oxidative Phosphorylation Deficiency 22 |
|
Pulmonary arterial hypertension, Congestive heart failure |
OMIM:616045 |
Afibrinogenemia, Congenital |
|
Epidural hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Bruising susceptibilit... |
OMIM:202400 |
Hydrops Fetalis |
|
Polyhydramnios, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Ab... |
ORPHA:1041 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... |
OMIM:115200 |
Transaldolase Deficiency |
|
Patent ductus arteriosus, Patent foramen ovale, Anemia, Telangiectasia, Ventricular septal defect... |
OMIM:606003 |
Hemophilia A |
|
Intracranial hemorrhage, Bleeding with minor or no trauma, Oral cavity bleeding, Joint swelling, ... |
ORPHA:98878 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
Factor Vii Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Menorrhagia, Prol... |
OMIM:227500 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Severely reduced left ventricular ejection fraction, Wolff-Parkinson-White syndrome, Left ventric... |
ORPHA:444013 |
Gaucher Disease, Type Iii |
|
Pancytopenia, Vascular calcification, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:231000 |
Glanzmann Thrombasthenia 1 |
|
Purpura, Intracranial hemorrhage, Bruising susceptibility, Ecchymosis, Epistaxis, Subdural hemorr... |
OMIM:273800 |
Acute Promyelocytic Leukemia |
|
Leukopenia, Anemia, Exertional dyspnea, Productive cough, Petechiae, Purpura, Abnormal bleeding, ... |
ORPHA:520 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Oligohydramnios, Pleural effusion, Hypertrophic cardiomyopathy, Cardiomegal... |
OMIM:614702 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Neutropenia, Leukemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Severe Hemophilia A |
|
Persistent bleeding after trauma, Epidural hemorrhage, Intracranial hemorrhage, Bruising suscepti... |
ORPHA:169802 |
Refractory Anemia |
|
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Bone marrow hypocellularity, Macrocytic ane... |
ORPHA:98826 |
Congenital Tracheomalacia |
|
Respiratory insufficiency, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hypoplasia, ... |
ORPHA:95430 |
Familial Thrombocytosis |
|
Pulmonary arterial hypertension, Acute myeloid leukemia, Cerebral ischemia, Transient ischemic at... |
ORPHA:71493 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Arteriovenous malformation, Intracranial hemorrhage, Venous insufficiency, Ed... |
ORPHA:624 |
Ovarian Hyperstimulation Syndrome |
|
Hypovolemia, Pulmonary edema, Enlarged polycystic ovaries, Pleural effusion, Peripheral edema, Ca... |
ORPHA:64739 |
Hellp Syndrome |
|
Hypotension, Hemolytic anemia, Cerebral hemorrhage, Pulmonary edema, Microangiopathic hemolytic a... |
ORPHA:244242 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Hemoperitoneum, Subcutaneous hemorrhage, Post-partum hemorrhage, Epidural hemorrhage, Persistent ... |
ORPHA:465 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2 |
|
Myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Aplastic anemia, Pulmonary fibrosis,... |
OMIM:614743 |
Hereditary Hemorrhagic Telangiectasia |
|
Pulmonary arterial hypertension, Pulmonary embolism, Mucosal telangiectasiae, Cerebral hemorrhage... |
ORPHA:774 |
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant |
|
Pulmonary embolism |
OMIM:176860 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Patent ductus arteriosus, Pedal edema, Ventricular septal defect, Peripheral arterial stenosis, V... |
OMIM:126320 |
Congenital Factor Xiii Deficiency |
|
Cerebral hemorrhage, Subcutaneous hemorrhage, Post-partum hemorrhage, Persistent bleeding after t... |
ORPHA:331 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory insufficiency, Bronchiectasis, Desquamative interstitial pneumonitis, Decreased DLCO,... |
OMIM:610913 |
Idiopathic Aplastic Anemia |
|
Retinal hemorrhage, Anemia, Reticulocytopenia, Pancytopenia, Ecchymosis, Epistaxis, Gingival blee... |
ORPHA:88 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:614082 |
Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Meconium Aspiration Syndrome |
|
Pulmonary arterial hypertension, Aspiration pneumonia, Pulmonary insufficiency, Pneumothorax, Hyp... |
ORPHA:70588 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Extramedullary hematopoiesis, Thrombocytopenia, Neutropenia, Splenomegaly |
OMIM:615285 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Hepatic arteriovenous malformation, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad ... |
OMIM:187300 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... |
ORPHA:300751 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Pedal edema, Edema of the dorsum of hands, Predominantly lower limb lymphedema, Venous insufficie... |
ORPHA:568051 |
Propionic Acidemia |
|
Cerebellar hemorrhage, Cardiomyopathy, Anemia, Limb hypertonia, Pancytopenia, Apnea, Hepatomegaly... |
OMIM:606054 |
Livedoid Vasculopathy |
|
Macular purpura, Pedal edema, Anemia, Ischemic stroke, Abnormal capillary morphology, Hypertensio... |
ORPHA:542643 |
Familial Afibrinogenemia |
|
Cerebral hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding, Joint swelling |
ORPHA:98880 |
Congenital Factor Vii Deficiency |
|
Post-partum hemorrhage, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Gingival ble... |
ORPHA:327 |
Neonatal Lupus Erythematosus |
|
Anemia, Neutropenia, Hemolytic anemia, Abnormal bleeding, Dilated cardiomyopathy, Abnormal electr... |
ORPHA:398124 |
Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrial septal defect, Atrioventricular dissociation, Atrioventricular ... |
OMIM:614954 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Pancytopenia, Abnormality of neutr... |
ORPHA:2585 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Leukopenia, Chronic bronchitis, T lymphocytopenia, Bronchiectasis, Neutropenia, Impaired neutroph... |
OMIM:618986 |
Pulmonary Hypertension, Primary, 4 |
|
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Right bundle branch block, I... |
OMIM:615344 |
Cocaine Intoxication |
|
Hypotension, Pneumothorax, Ischemic stroke, Ventricular arrhythmia, Supraventricular arrhythmia, ... |
ORPHA:90068 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Acute myelomonocytic leukemia, Abnormal megakaryocyte morphology, Lymphoc... |
ORPHA:86843 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Familial Cerebral Saccular Aneurysm |
|
Aortic root aneurysm, Transient ischemic attack, Atherosclerosis, Intracranial hemorrhage, Hypert... |
ORPHA:231160 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... |
OMIM:314050 |
Immune Thrombocytopenia |
|
Cerebral hemorrhage, Petechiae, Purpura, Bruising susceptibility, Epistaxis, Gingival bleeding, G... |
ORPHA:3002 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Bicuspid aortic valve, Stroke, Cerebral hemorrhage |
OMIM:300049 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
Atrial Septal Defect 9 |
|
Pulmonary arterial hypertension, Bicuspid aortic valve, Secundum atrial septal defect |
OMIM:614475 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... |
OMIM:613485 |
Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Atrial septal defect, Coarctation of a... |
OMIM:614857 |
Congenital Factor X Deficiency |
|
Subarachnoid hemorrhage, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, Abnormal ... |
ORPHA:328 |
Aicardi-Goutieres Syndrome 4 |
|
Respiratory insufficiency, Pancytopenia, Hepatosplenomegaly, Hepatomegaly, Thrombocytopenia, Sple... |
OMIM:610333 |
Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
Keutel Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect, Recurrent sinusitis, Pulmonary artery... |
ORPHA:85202 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Pancytopenia, Hemophagocytosis, Hepatomegaly, Aplastic anemia, Recurrent respiratory infections, ... |
OMIM:300635 |
Bone Marrow Failure Syndrome 1 |
|
Aplastic anemia, Bone marrow hypocellularity, Pancytopenia |
OMIM:614675 |
Autoinflammation With Infantile Enterocolitis |
|
Anemia, Reduced natural killer cell count, Pancytopenia, Diffuse alveolar hemorrhage, Thrombocyto... |
OMIM:616050 |
Gaucher Disease Type 1 |
|
Pulmonary arterial hypertension, Pedal edema, Abnormal pulmonary interstitial morphology, Leukope... |
ORPHA:77259 |
Immunodeficiency 69 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly |
OMIM:618963 |
Mogs-Cdg |
|
Polyhydramnios, Hypoventilation, Pulmonary edema, Left ventricular hypertrophy, Respiratory distr... |
ORPHA:79330 |
Hemorrhagic Fever-Renal Syndrome |
|
Hypotension, Shock, Pleural effusion, Palpitations, Capillary leak, Hematemesis, Thrombocytopenia... |
ORPHA:340 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... |
OMIM:613424 |
Immunodeficiency, Common Variable, 13 |
|
Polyhydramnios, Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia |
OMIM:616873 |
Left Ventricular Noncompaction 1 |
|
Sudden cardiac death, Patent ductus arteriosus, Ventricular septal defect, Ventricular arrhythmia... |
OMIM:604169 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Polyhydramnios, Asplenia, Nonimmune hydrops fetalis, Pulmonary art... |
OMIM:265380 |
Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia |
ORPHA:295 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Respiratory insufficiency, Hypoplasia of the thymus, Secundum atrial septal defect, Hepatosplenom... |
OMIM:612541 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
Thrombophilia Due To Thrombin Defect |
|
Pulmonary embolism |
OMIM:188050 |
Histiocytoid Cardiomyopathy |
|
Supraventricular tachycardia, Right bundle branch block, Ventricular septal defect, Pulmonary ede... |
ORPHA:137675 |
Antisynthetase Syndrome |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Abnormal pulmonary interstitial morph... |
ORPHA:81 |
Eisenmenger Syndrome |
|
Atrioventricular canal defect, Pedal edema, Aortopulmonary window, Ventricular arrhythmia, Suprav... |
ORPHA:97214 |
Laubry-Pezzi Syndrome |
|
Elevated pulmonary artery pressure, Patent foramen ovale, Patent ductus arteriosus, Right ventric... |
ORPHA:99094 |
Combined Deficiency Of Factor V And Factor Viii |
|
Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Prolonged bleeding following circumc... |
ORPHA:35909 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Pulmonary arterial hypertension, Vascular dilatation, Hypertension, Cardiomegaly, Tachypnea |
OMIM:613320 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Petechiae, Abnormal bleeding, Purpura, Intracranial hemorrhage, Ecchymosis, Cephalohematoma, Gast... |
ORPHA:853 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Portal hypertension, Pancytopenia, Gastrointestinal hemorrhage, Retinal telangiectasia |
OMIM:617341 |
Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Megaloblastic bone marrow, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Bone marrow hypocell... |
OMIM:300835 |
Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Factor X Deficiency |
|
Intracranial hemorrhage, Epistaxis, Gingival bleeding, Menorrhagia, Prolonged prothrombin time, P... |
OMIM:227600 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
Adams-Oliver Syndrome 5 |
|
Pulmonary arterial hypertension, Patent foramen ovale, Pulmonic stenosis, Hypersplenism, Right ve... |
OMIM:616028 |
Abeta Amyloidosis, Iowa Type |
|
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology |
ORPHA:324708 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Leukopenia, Anemia, Pancytopenia, Typ... |
OMIM:613845 |
Lymphedema, Primary, With Myelodysplasia |
|
Acute myeloid leukemia, Decreased CD4:CD8 ratio, Lymphedema, Pancytopenia, Leukemia |
OMIM:614038 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Hemothorax, Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleedin... |
ORPHA:79 |
Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
Pulmonary Hypertension, Primary, 3 |
|
Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Dyspnea, Elevated pulmo... |
OMIM:615343 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Faci... |
OMIM:616435 |
Snakebite Envenomation |
|
Hypotension, Cerebral ischemia, Cardiogenic shock, Abnormal bleeding, Intracranial hemorrhage, St... |
ORPHA:449285 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Hypoventilation, Exertional dyspnea, ... |
ORPHA:98915 |
Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Hepatosplenomegaly, Recurrent pneumonia, Hemophagocytosis, Hepatomegaly, Ascites, A... |
OMIM:615122 |
Aggressive Systemic Mastocytosis |
|
Hypotension, Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Thrombocytopenia, Increased... |
ORPHA:98850 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Leu... |
OMIM:155100 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Pericardial effusion, Pancytopenia, Autoimmune thrombocytopenia, Pleural effu... |
OMIM:613011 |
Schimke Immunoosseous Dysplasia |
|
Pulmonary arterial hypertension, Anemia, Abnormal T cell morphology, Cerebral ischemia, Transient... |
OMIM:242900 |
Hemophilia B |
|
Spontaneous, recurrent epistaxis, Intracranial hemorrhage, Delayed onset bleeding, Cephalohematom... |
ORPHA:98879 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Pulmonary arterial hypertension, Cardiomegaly, Hepatomegaly |
OMIM:619064 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Pulmonary arterial hypertension, Aortic regurgitation, Mitral regurgitation |
OMIM:614651 |
Cantu Syndrome |
|
Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Lymphedema, Pericardial effus... |
OMIM:239850 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a... |
OMIM:159550 |
Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
Chloramphenicol Toxicity |
|
Aplastic anemia |
OMIM:515000 |
Angioosteohypotrophic Syndrome |
|
Prominent superficial veins, Edema, Venous malformation, Telangiectasia of the skin |
ORPHA:75508 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, B lymphocytopenia, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acut... |
OMIM:619824 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ... |
ORPHA:70591 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Purpura, Cerebral hemorrhage |
OMIM:614514 |
Tricuspid Atresia |
|
Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, Atrial sept... |
ORPHA:1209 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Congestive heart fail... |
OMIM:601493 |
Kagami-Ogata Syndrome |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Polyhydramnios, Flexion contracture, D... |
OMIM:608149 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Lymphopenia, Pancytopenia, Recurrent pneumonia, Thrombocytosis, Macrocytic ... |
OMIM:617780 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Hepatic arteriovenous malformation, Facial telangiectasia, Ischemic stroke, Spontaneous, recurren... |
OMIM:600376 |
Wt Limb-Blood Syndrome |
|
Pancytopenia, Joint contracture of the 5th finger, Thrombocytopenia, Leukemia, Hypoplastic anemia |
OMIM:194350 |
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency |
|
Pulmonary embolism |
ORPHA:82 |
Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Pancytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Restrictive vent... |
OMIM:619767 |
Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia, Perianal abscess |
OMIM:619437 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomega... |
OMIM:619051 |
Mixed Connective Tissue Disease |
|
Pulmonary arterial hypertension, Leukopenia, Abnormal pulmonary interstitial morphology, Hemolyti... |
ORPHA:809 |
Asplenia, Isolated Congenital |
|
Asplenia, Howell-Jolly bodies, Thrombocytosis |
OMIM:271400 |
Meckel Syndrome, Type 7 |
|
Patent ductus arteriosus, Atrial septal defect, Hepatosplenomegaly, Oligohydramnios, Situs invers... |
OMIM:267010 |
Leishmaniasis |
|
Leukopenia, Anemia, Rhinitis, Abnormal macrophage morphology, Abnormal bleeding, Pancytopenia, He... |
ORPHA:507 |
Cardiomyopathy, Dilated, 1U |
|
Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Conge... |
OMIM:613694 |
Adams-Oliver Syndrome |
|
Pulmonary arterial hypertension, Leukopenia, Arteriovenous malformation, Abnormal pulmonary valve... |
ORPHA:974 |
Acquired Von Willebrand Syndrome |
|
Hypotension, Persistent bleeding after trauma, Subcutaneous hemorrhage, Intracranial hemorrhage, ... |
ORPHA:99147 |
Nephrotic Syndrome, Type 7 |
|
Thrombocytopenia, Hemolytic anemia |
OMIM:615008 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right bundle branch block, Cardiomegaly, Reduced left ventricular ejection fraction, Calf muscle ... |
ORPHA:268 |
Immunodeficiency 60 And Autoimmunity |
|
Bronchiectasis, Recurrent sinopulmonary infections, Pancytopenia, Decreased proportion of memory ... |
OMIM:618394 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Ventricular septal defect, Hypertension... |
ORPHA:369929 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity |
OMIM:617243 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal natural killer cell count, Pulmonary hemorrhage, Anemia, T lymphocytopenia, Recurrent as... |
ORPHA:79124 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
Schimke Immuno-Osseous Dysplasia |
|
Pulmonary arterial hypertension, Anemia, Ischemic stroke, Cerebral ischemia, Transient ischemic a... |
ORPHA:1830 |
Sneddon Syndrome |
|
Ischemic stroke, Cerebral hemorrhage, Bicuspid aortic valve, Hypertension, Stroke |
OMIM:182410 |
Congenital Alveolar Capillary Dysplasia |
|
Pulmonary arterial hypertension, Atrioventricular canal defect, Pulmonary valve atresia, Patent d... |
ORPHA:210122 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Mitral stenosis, Calcification of the aorta, Pancytopenia, Hepatomegaly, Cardiomega... |
OMIM:231005 |
Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... |
OMIM:187950 |
Von Willebrand Disease |
|
Abnormal mitral valve morphology, Venous insufficiency |
ORPHA:903 |
Congenital Tricuspid Stenosis |
|
Pulmonary arterial hypertension, Hypotension, Bacterial endocarditis, Heart murmur, Congestive he... |
ORPHA:95459 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Respiratory distress, Stroke-like episode, Skeletal muscle atrop... |
OMIM:619272 |
Scorpion Envenomation |
|
Rhabdomyolysis, Pulmonary edema, T-wave inversion, Cardiogenic shock, Prominent U wave, Bundle br... |
ORPHA:466677 |
Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Abnormal bleeding, Bruising susce... |
ORPHA:101096 |
Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Thrombocytopenia, Abnormal platelet aggregation |
OMIM:614171 |
Overlap Myositis |
|
Pulmonary arterial hypertension, Leukopenia, Abnormal pulmonary interstitial morphology, Perifasc... |
ORPHA:206572 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Pancytopenia |
OMIM:600546 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Knee flexion contracture, Elbow flexion contracture, Pancytopenia, Hepatosplenomegaly, Thrombocyt... |
OMIM:604416 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Acute lymphoblastic leukemia, ... |
ORPHA:158057 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Polyhydramnios, Type 1 muscle fiber predominance,... |
OMIM:612949 |
Ethylene Glycol Poisoning |
|
Hypotension, Cerebral edema, Pulmonary edema, Facial palsy, Congestive heart failure, Hypertensio... |
ORPHA:31826 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Transient ischemic attack, Intracranial ... |
ORPHA:136 |
Thymoma |
|
Pure red cell aplasia, Myositis, Imbalanced hemoglobin synthesis, Dyspnea, Cough, Neoplasia of th... |
ORPHA:99867 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Right ventricular dilatation, Left ventri... |
OMIM:614022 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Refractory anemia |
OMIM:231095 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Patent ductus arteriosus, Peau d'orange, Ventricular septal defect, Abnormal bleeding, Atrial sep... |
OMIM:614576 |
Pulmonary Hypertension, Primary, 2 |
|
Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Abnormally loud pulmoni... |
OMIM:615342 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Patent foramen ovale, Ventricular septal defect, Abnormal bleeding, Atrial septal defect, Oligohy... |
OMIM:208085 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pulmonary arterial hypertension, Camptodactyly of finger, Splenomegaly, Patent ductus arteriosus,... |
OMIM:602782 |
Braddock Syndrome |
|
Neonatal respiratory distress, Congenital muscular torticollis, Pulmonary fibrosis, Pulmonary art... |
ORPHA:52047 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
Immunodeficiency 62 |
|
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... |
OMIM:618459 |
Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
Bernard-Soulier Syndrome |
|
Thrombocytopenia, Macrothrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant ... |
OMIM:231200 |
Fibronectin Glomerulopathy |
|
Pedal edema, Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Supracardiac total anomalous pulmonary venous connection, Pulmonary hypoplasia, Pulmonary artery ... |
ORPHA:99125 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Anemia, Renal artery aneurysm, Raynaud phenomenon, Purpura, Recurrent sinusitis, Hype... |
OMIM:615688 |
Hurler-Scheie Syndrome |
|
Pulmonary arterial hypertension, Camptodactyly of finger, Aortic regurgitation, Contracture of th... |
OMIM:607015 |
Dural Sinus Malformation |
|
Cerebellar hemorrhage, Cerebral edema, Vascular dilatation, Cerebral hemorrhage, Carotid cavernou... |
ORPHA:97339 |
Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage |
OMIM:614483 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia |
OMIM:616738 |
Scleroderma |
|
Pulmonary arterial hypertension, Hypereosinophilia, Gastrointestinal telangiectasia, Flexion cont... |
ORPHA:801 |
Sneddon Syndrome |
|
Hypertension, Intracranial hemorrhage, Arterial stenosis |
ORPHA:820 |
Atrial Fibrillation, Familial, 6 |
|
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Elevated left ventricul... |
OMIM:612201 |
Cerebral Amyloid Angiopathy, App-Related |
|
Cerebellar hemorrhage, Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorr... |
OMIM:605714 |
Platelet Disorder, Undefined |
|
Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... |
OMIM:613838 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Moyamoya phenomenon, Cerebral hemorrhage, Abnormal cerebral vascular morphology, Abnormal left ve... |
OMIM:300845 |
Gaucher Disease Type 3 |
|
Pulmonary arterial hypertension, Mitral valve calcification, Abnormal pulmonary interstitial morp... |
ORPHA:77261 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Leukopenia, Neutropenia, Dilated cardiomyopathy, Pancytopenia, Bone marrow hypocellularity, Pulmo... |
OMIM:613989 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Thrombocytopenia, Neutropenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... |
OMIM:202700 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Exertional dyspnea, Reduced left ventricular ej... |
OMIM:608751 |
Atrioventricular septal defect 3 |
|
Pulmonary arterial hypertension, Atrioventricular canal defect, Inlet ventricular septal defect, ... |
OMIM:600309 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly |
OMIM:607616 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Ischemic stroke, Mucoid extracellular matrix accumulation, Ascending aortic dissection, Abnormal ... |
ORPHA:91387 |
Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Ciliary Dyskinesia, Primary, 40 |
|
Patent ductus arteriosus, Atrioventricular canal defect, Congenitally corrected transposition of ... |
OMIM:618300 |
Ogden Syndrome |
|
Torsade de pointes, Secundum atrial septal defect, Pulmonary hypoplasia, Premature atrial contrac... |
OMIM:300855 |
Attrv122I Amyloidosis |
|
Anemia, Restrictive cardiomyopathy, Cardiomegaly, Reduced left ventricular ejection fraction, Abn... |
ORPHA:85451 |
Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Hemoperitoneum, Pericardial effusion, Tachycardia, Abnormal left ventricular functio... |
ORPHA:99827 |
Thymic Carcinoma |
|
Edema, Palpebral edema, Dyspnea, Abnormal vena cava morphology, Cough |
ORPHA:99868 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Pulmonary arterial hypertension, Flexion contracture, Recurrent upper respiratory tract infection... |
ORPHA:391372 |
Diffuse Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Flexion contracture, Congestive heart failure, Hypertensive cris... |
ORPHA:220393 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythm... |
ORPHA:1345 |
Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... |
OMIM:614172 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocytopenia, Splenomega... |
OMIM:150550 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Moyamoya phenomenon, Ischemic stroke, Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, ... |
ORPHA:280679 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Pulmonary arterial hypertension, Patent foramen ovale, Ventricular septal defect, Left ventricula... |
OMIM:615474 |
Milroy Disease |
|
Pedal edema, Lymphedema, Predominantly lower limb lymphedema, Abnormal venous morphology, Varicos... |
ORPHA:79452 |
Dengue Fever |
|
Hypotension, Petechiae, Cerebral hemorrhage, Bruising susceptibility, Epistaxis, Gingival bleedin... |
ORPHA:99828 |
Meckel Syndrome, Type 8 |
|
Pericardial effusion, Occipital encephalocele, Encephalocele |
OMIM:613885 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Vitreous hemorrhage, Purpura |
OMIM:612304 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Anisopoikilocytosis, Abnormal bleeding, Abnormal hemoglobin concentration, ... |
ORPHA:35858 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Retinal hemorrhage, Vitreous hemorrhage, Cerebral hemorrhage, Intracranial hemorrhage, Diffuse al... |
ORPHA:464321 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pulmonary arterial hypertension |
OMIM:619059 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, Splenomegaly |
OMIM:603552 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlar... |
OMIM:115210 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
B lymphocytopenia |
OMIM:616941 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Increased mean platelet volume, Impa... |
OMIM:617443 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Pancytopenia, Hepatomegaly |
OMIM:617872 |
Congenital Disorder Of Glycosylation, Type It |
|
Sudden cardiac death, Pulmonary arterial hypertension, Ventricular septal defect, Rhabdomyolysis,... |
OMIM:614921 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume |
OMIM:620044 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... |
OMIM:612158 |
Slc35A1-Cdg |
|
Thrombocytopenia, Neutropenia, Abnormal platelet granules, Giant platelets |
ORPHA:238459 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Ventricular septal defect, Respiratory... |
ORPHA:2519 |
Congenital Disorder Of Glycosylation, Type Il |
|
Pericardial effusion, Edema, Ascites, Abnormal cardiac septum morphology |
OMIM:608776 |
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Pulmonary embolism, Purpura |
OMIM:612336 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Flexion contracture, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Airway obstruction, Bone ma... |
ORPHA:505248 |
Polycythemia Vera |
|
Respiratory insufficiency, Pulmonary embolism, Intermittent claudication, Angina pectoris, Bruisi... |
ORPHA:729 |
Drug-Induced Lupus Erythematosus |
|
Pericardial effusion, Prolonged QTc interval, Pericarditis, Petechiae |
ORPHA:231111 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Abnormal alpha granule content, Impaired platelet aggregation, Abnormal d... |
OMIM:601399 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Pulmonary arterial hypertension, Patent foramen ovale, T lymphocytopenia, Bronchiectasis, B lymph... |
ORPHA:391487 |
Pseudo-Torch Syndrome 2 |
|
Patent ductus arteriosus, Petechiae, Cerebral hemorrhage, Secundum atrial septal defect, Pleural ... |
OMIM:617397 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Patent foramen ovale, Vascular dilatation, Hypoplasia of the thymus, Morgagni diaphragmatic herni... |
OMIM:613177 |
Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Congestive hea... |
OMIM:613697 |
Systemic Lupus Erythematosus 17 |
|
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Congestive heart failure, Increased left ve... |
OMIM:615248 |
Wyburn-Mason Syndrome |
|
Vascular dilatation, Cerebral hemorrhage, Abnormal cerebral vascular morphology, Arteriovenous ma... |
ORPHA:53719 |
Lig4 Syndrome |
|
Thrombocytopenia, Telangiectasia, Pancytopenia |
OMIM:606593 |
Griscelli Syndrome Type 2 |
|
Petechiae, Pancytopenia, Hemophagocytosis, Hepatomegaly, Neutropenia, Splenomegaly |
ORPHA:79477 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity |
OMIM:618116 |
Congenital Enterovirus Infection |
|
Hypotension, Polyhydramnios, Hydrops fetalis, Pericardial effusion, Abnormal bleeding, Pleural ef... |
ORPHA:292 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Hypertrophic cardi... |
OMIM:618775 |
Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Myocardial fibrosis, Pericard... |
ORPHA:75566 |
Thoracic Outlet Syndrome |
|
Edema, Varicose veins |
ORPHA:97330 |
Systemic Sclerosis |
|
Pulmonary arterial hypertension, Gastrointestinal telangiectasia, Telangiectasia, Flexion contrac... |
ORPHA:90291 |
Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Sideroblastic anemia, Megaloblastic anemia, Neutropenia |
OMIM:598500 |
Methylcobalamin Deficiency Type Cble |
|
Hypertension, Pancytopenia, Megaloblastic bone marrow, Macrocytic anemia, Increased mean corpuscu... |
ORPHA:2169 |
Primary Angiitis Of The Central Nervous System |
|
Transient ischemic attack, Stroke, Cerebral vasculitis, Intracranial hemorrhage |
ORPHA:140989 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Thrombocytopenia, Hemolytic anemia, Lymphopenia |
OMIM:616744 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion |
OMIM:614684 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Cerebral edema, Hypoventilation, Flex... |
ORPHA:258 |
Methanol Poisoning |
|
Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemorrhage, Inflammatory arterio... |
ORPHA:31825 |
Microcephaly-Capillary Malformation Syndrome |
|
Patent foramen ovale, Right ventricular hypertrophy, Ventricular septal defect, Atrial septal defect |
OMIM:614261 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:607487 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Subvalvular aortic stenosis, Ventricular septal defect, Pulmonary artery atresia, Secundum atrial... |
OMIM:108900 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Pancytopenia, Hepatomegaly |
ORPHA:251009 |
Beta-Thalassemia Intermedia |
|
Pulmonary arterial hypertension, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Erythro... |
ORPHA:231222 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, Recurrent respiratory infections, Bronchiectasis, B lymphocytopenia, Asthma,... |
OMIM:614700 |
Dermatomyositis |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Abnormal pulmonary interstitial morph... |
ORPHA:221 |
Aplastic Anemia |
|
Aplastic anemia, Bone marrow hypocellularity |
OMIM:609135 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Thrombocytopenia, Splenomegaly |
OMIM:615010 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis, Poikilocytosis |
OMIM:300367 |
Autoinflammatory-Pancytopenia Syndrome |
|
Hemophagocytosis, Pancytopenia, Hepatosplenomegaly |
OMIM:619858 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Retinal hemorrhage, Peau d'orange, Cerebral hemorrhage, Premature occlusive vascular stenosis, Mi... |
OMIM:177850 |
Thyrocerebrorenal Syndrome |
|
Thrombocytopenia |
ORPHA:3327 |
Spondyloenchondrodysplasia |
|
Raynaud phenomenon, Hypertension, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic... |
ORPHA:1855 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Thrombocytopenia, Splenomegaly, Anemia |
OMIM:610539 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Pancytopenia, Hemophagocytosis, Splenomegaly, Facial edema |
OMIM:618398 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, T lymphocytopenia, B lymphocytopenia |
OMIM:619164 |
Kaposiform Lymphangiomatosis |
|
Pericardial effusion, Epidural hemorrhage, Abnormal bleeding, Bruising susceptibility, Ecchymosis... |
ORPHA:464329 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Pulmonary arterial hypertension, Aortic root aneurysm, Polyhydramnios, Aortopulmonary window, Ven... |
OMIM:620025 |
Aicardi-Goutieres Syndrome 7 |
|
Anemia, Hemolytic anemia, Limb hypertonia, Recurrent lower respiratory tract infections, Pericard... |
OMIM:615846 |
Alpha-Mannosidosis, Adult Form |
|
Macroglossia, Pancytopenia, Hepatosplenomegaly, Aortic regurgitation, Pneumonia |
ORPHA:309288 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... |
OMIM:613251 |
Extracranial Carotid Artery Aneurysm |
|
Cerebral ischemia, Atherosclerosis, Arterial fibromuscular dysplasia, Arteritis, Hypertension, To... |
ORPHA:494424 |
Poems Syndrome |
|
Pulmonary arterial hypertension, Pericardial effusion, Polycythemia, Pleural effusion, Edema, Res... |
ORPHA:2905 |
Japanese Encephalitis |
|
Cerebral edema, Respiratory paralysis, Pulmonary edema, Irregular respiration, Elbow flexion cont... |
ORPHA:79139 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia |
OMIM:267500 |
Meige Disease |
|
Pedal edema, Lymphedema, Edema of the dorsum of hands, Predominantly lower limb lymphedema, Pleur... |
ORPHA:90186 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Rhinitis, Neutropenia, Acute lymphoblastic leukemia, Recurrent sinopulmon... |
ORPHA:486 |
Acquired Purpura Fulminans |
|
Macular purpura, Intracranial hemorrhage, Internal hemorrhage, Shock, Prolonged prothrombin time |
ORPHA:49566 |
Proteus Syndrome |
|
Splenomegaly, Venous malformation |
OMIM:176920 |
Primary Ciliary Dyskinesia |
|
Asplenia, Bronchiectasis, Productive cough, Airway obstruction, Abnormal inferior vena cava morph... |
ORPHA:244 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Thrombocytopenia, Sideroblastic anemia |
OMIM:617021 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Arteriovenous malformation, Congestive heart failure, Venous insufficiency |
ORPHA:137608 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
Lig4 Syndrome |
|
Telangiectasia of the skin, Pancytopenia, Leukocytosis, Hepatomegaly, Acute leukemia, Abnormality... |
ORPHA:99812 |
Hypocomplementemic Urticarial Vasculitis |
|
Small vessel vasculitis, Pericardial effusion, Pleural effusion, Ascites, Angioedema, Abnormal he... |
ORPHA:36412 |
Aortic Arch Interruption |
|
Pedal edema, Systolic heart murmur, Left ventricular outflow tract obstruction, Truncus arteriosu... |
ORPHA:2299 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Abnormal cerebral artery morphology, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syn... |
ORPHA:90065 |
Methylmalonic Aciduria, Cblb Type |
|
Anemia, Respiratory distress, Pancytopenia, Hepatomegaly, Dehydration, Thrombocytopenia, Neutropenia |
OMIM:251110 |
Congenital Aortic Valve Stenosis |
|
Sudden cardiac death, Abnormal T-wave, Aortic valve atresia, Increased QRS voltage, Endocarditis,... |
ORPHA:3093 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Restrictive cardiomyopathy, Pericardial effusion, Nonimmune hydrops fetalis, Right atrial enlarge... |
OMIM:619313 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Anemia, Interstitial pneumonitis, Lymphopenia, Aplastic anemia, Dyspnea, Bone marrow ... |
OMIM:127550 |
Tempi Syndrome |
|
Transudative pleural effusion, Ascites, Telangiectasia, Intracranial hemorrhage |
ORPHA:284227 |
Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Pancytopenia, Hepatomegaly, Increased mean corpuscular volume, Thrombocytop... |
OMIM:613839 |
Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pulmonary arterial hypertension, Mitral valve calcification, Abnormal pulmonary interstitial morp... |
ORPHA:2072 |
Osteopetrosis, Autosomal Recessive 2 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Chronic rhinitis due to narrow nasal airway, Facial par... |
OMIM:259710 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Reduced left vent... |
OMIM:613876 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hypersplenism, Camptodactyly, Pancytopenia, Hepatomegaly, Portal hypertension, Reduced forced exp... |
OMIM:613385 |
Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Pulmonary embolism, Anemia, Edema, Thrombocytosis, Hepatomegaly, Iron deficiency anemia, Budd-Chi... |
OMIM:226300 |
X-Linked Lymphoproliferative Disease |
|
Increased B cell count, Pulmonary granulomatosis, Reduced natural killer cell count, Recurrent re... |
ORPHA:2442 |
X-Linked Intellectual Disability, Nascimento Type |
|
Pulmonary arterial hypertension, Patent foramen ovale, Double outlet right ventricle, Patent duct... |
ORPHA:163956 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Polyhydramnios, Pericardial effusion, Aortic aneurysm, Atrial septal defect, Multiple muscular ve... |
OMIM:620070 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Leukopenia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Pulmonary fibrosis, Apla... |
OMIM:613990 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Venous varicosities of celiac and mesenteric vessels, Palate telangiectasia, Dilatation of mesent... |
OMIM:610655 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Cerebral hemorrhage, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Epistaxis, Prolonged... |
OMIM:277450 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Rhinitis, T lymphocytopenia, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, P... |
ORPHA:572 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Leukopenia, Anemia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:619151 |
Tetrasomy 5P |
|
Pulmonary arterial hypertension, Aplasia/Hypoplasia of the abdominal wall musculature, Heart murm... |
ORPHA:3309 |
Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia |
OMIM:188025 |
Methylmalonic Aciduria, Cbla Type |
|
Anemia, Respiratory distress, Pancytopenia, Hepatomegaly, Dehydration, Thrombocytopenia, Neutropenia |
OMIM:251100 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Hepatosplenomegaly, Hemophagocytosis, Thrombocytopenia, Splenomegaly |
OMIM:613101 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Ventricular septal defect, Transposition of the great arteries, Bi... |
OMIM:613751 |
Parkes Weber Syndrome |
|
Vascular dilatation, Bounding pulse, Lower limb muscle weakness, High-output congestive heart fai... |
ORPHA:90307 |
Tropical Endomyocardial Fibrosis |
|
Pedal edema, Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfun... |
ORPHA:75565 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Leukopenia, Anemia, Pancytopenia, Hepatosplenomegaly, Edema, Hemophagocytosis, Prolonged prothrom... |
OMIM:603553 |
Chédiak-Higashi Syndrome |
|
Pericardial effusion, Hepatosplenomegaly, Pleural effusion, Thrombocytopenia, Abnormal leukocyte ... |
ORPHA:167 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... |
OMIM:608758 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia |
OMIM:618987 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... |
OMIM:612098 |
Nestor-Guillermo Progeria Syndrome |
|
Pulmonary arterial hypertension, Right bundle branch block, Flexion contracture, Sinus tachycardi... |
OMIM:614008 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, At... |
ORPHA:26793 |
Sarcoidosis, Susceptibility To, 1 |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Bronchiectasis, Peri... |
OMIM:181000 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
Thyrocerebroretinal Syndrome |
|
Thrombocytopenia |
OMIM:274240 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Atrial septal defect, Dyspnea, Congeni... |
ORPHA:261279 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Decreased muscle mass, Wrist drop, Muscle fiber atrophy, Vascular dilatation, Elbow flexion contr... |
ORPHA:1900 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Petechiae, Amegakaryocytic thrombocytopenia, Purpura, Congenital thrombocytopenia, Aplastic anemi... |
OMIM:605432 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, Splenomegal... |
OMIM:612690 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Cerebral edema, Left ventricular hypertrophy, Dilated cardiomyopathy, Pancytopenia, Tachycardia |
OMIM:618321 |
Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... |
OMIM:615518 |
19P13.3 Microduplication Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect |
ORPHA:447980 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Pulmonary arterial hypertension, Patent foramen ovale, Aortic root aneurysm, Patent ductus arteri... |
ORPHA:280633 |
Cardiac Diverticulum |
|
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Pulmonary artery stenosis, Endocarditis,... |
ORPHA:1686 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory insufficiency, Respiratory failure, Facial paralysis, Pulmonary arterial hypertension |
OMIM:605711 |
Gaucher Disease |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Abnormal pericardium morphology, Mitr... |
ORPHA:355 |
Fanconi Anemia, Complementation Group B |
|
Patent ductus arteriosus, Ventricular septal defect, Abnormal lung lobation, Coarctation of aorta... |
OMIM:300514 |
Familial Hyperaldosteronism Type Iii |
|
Left ventricular hypertrophy, Intracranial hemorrhage, Hypertension, Epistaxis, Prolonged QT inte... |
ORPHA:251274 |
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Varicose veins, Venous malformation, Lymphedema |
OMIM:613089 |
Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Vascular dilatation, Hematochezia |
OMIM:277175 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ventricular septal defect, Lymphedema, Pericardial effusion, Thyroid lymphangiectasia, Pulmonary ... |
OMIM:235510 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Patent ductus arteriosus, Anemia, Megaloblastic anemia, Atrial septal defect, Pancytopenia, Dextr... |
OMIM:277380 |
3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia |
ORPHA:67048 |
Lymphatic Malformation 6 |
|
Polyhydramnios, Lymphedema, Nonimmune hydrops fetalis, Atrial septal defect, Pleural effusion, Ed... |
OMIM:616843 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Anemia, Decreased level of coenzyme Q10 in skeletal muscle, Pancytopenia, Hypertrophic cardiomyop... |
OMIM:607426 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Right ventricular hypertrophy, Arthrogryposis multiplex congenita, Hepatomegaly, Ventricular sept... |
OMIM:613404 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary arterial hypertension, Pulmonary embolism, Hydrops fetalis, Megaloblastic anemia, Respi... |
ORPHA:79282 |
Lysosomal Acid Lipase Deficiency |
|
Hypotension, Pulmonary arterial hypertension, Anemia, Hypovolemia, Ascites, Hypersplenism, Hepato... |
ORPHA:275761 |
Cirrhosis, Familial |
|
Pulmonary arterial hypertension, Ascites, Hypertension |
OMIM:215600 |
Brain-Lung-Thyroid Syndrome |
|
Pulmonary arterial hypertension, Patent foramen ovale, Abnormal pulmonary interstitial morphology... |
ORPHA:209905 |
Cardiac-Urogenital Syndrome |
|
Patent ductus arteriosus, Cor triatrium sinister, Ventricular septal defect, Coronary sinus enlar... |
OMIM:618280 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Respiratory distress, Pancytopenia, Persistence of hemoglobin F, ... |
OMIM:260400 |
Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141184 |
Diffuse Alveolar Hemorrhage |
|
Anemia, Hypoxemia, Restrictive ventilatory defect, Airway obstruction, Dyspnea, Cough, Pulmonary ... |
ORPHA:90060 |
Primary Intestinal Lymphangiectasia |
|
Pericardial effusion, Pleural effusion, Edema, Intestinal lymphangiectasia, Ascites, Abnormal lym... |
ORPHA:90362 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Pulmonary embolism, Leukopenia, Anemia, Hemolytic anemia, Abnormal erythrocyte enzyme level, Hype... |
ORPHA:447 |
Immunodeficiency 87 And Autoimmunity |
|
Pulmonary arterial hypertension, Atrioventricular canal defect, Third degree atrioventricular blo... |
OMIM:619573 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Impaired oxidative burst, Thrombocytopenia, Sp... |
OMIM:226990 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pulmonary edema, Pericardial effusion, Dilated cardiomyopathy, Congestive h... |
ORPHA:73224 |
Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Aplastic anemia, Bone marrow hypocellularity, Pancytopenia |
OMIM:616553 |
Kaposi Sarcoma |
|
Lymphedema, Abnormality of the spleen, Abnormal lung morphology, Venous insufficiency |
ORPHA:33276 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Aortic valve atresia, Mitral atresia, Pulmonary edema, Bicuspid aortic valve, Bilateral superior ... |
OMIM:220111 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Pancytopenia, Skeletal muscle atrophy, Eosinophilia, Thrombocytopenia, Recu... |
ORPHA:90045 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Thrombocytopenia, Splenomegaly |
OMIM:615085 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion |
ORPHA:411703 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hypertrophic cardiomyopat... |
OMIM:614676 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Intracranial hemorrhage, Bruising susceptibility, Lymphedema |
ORPHA:3226 |
Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Paroxysmal atrial... |
OMIM:613874 |
Aicardi-Goutieres Syndrome 9 |
|
Pericardial effusion, Left ventricular hypertrophy, Hypertension, Pericarditis, Edema, Increased ... |
OMIM:619487 |
Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Cerebral hemorrhage |
ORPHA:542310 |
Noonan Syndrome 12 |
|
Thrombocytopenia, Lymphopenia |
OMIM:618624 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Autoimmune hemolytic anemia, Hemophagocytosis, Bone marrow hypocellularity, Th... |
OMIM:301078 |
Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Limb hypertonia, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Hypochro... |
OMIM:259720 |
Geleophysic Dysplasia 2 |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Mitral stenosis, Mitral valve prolaps... |
OMIM:614185 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Patent foramen ovale, Patent ductus a... |
OMIM:620005 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Hypertension, Pleural effusion, Peripheral edema |
ORPHA:79126 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Cardiomyopathy |
OMIM:620089 |
Liver Disease, Severe Congenital |
|
Subvalvular aortic stenosis, Systolic heart murmur, Abnormal left ventricular function, Hepatomeg... |
OMIM:619991 |
Systemic Lupus Erythematosus |
|
Leukopenia, Thrombocytopenia, Hemolytic anemia |
OMIM:152700 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Pancytopenia, Telangiectasia of the skin |
ORPHA:85321 |
Thrombotic Thrombocytopenic Purpura |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Reticulocytosis |
ORPHA:54057 |
Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Hypertension, Cerebral hemorrhage |
OMIM:133100 |
Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:94080 |
Transcobalamin Ii Deficiency |
|
Reticulocytopenia, Erythroid hypoplasia, Pancytopenia, Megaloblastic bone marrow, Hepatomegaly, M... |
OMIM:275350 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem... |
OMIM:153670 |
Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Pancytopenia, Hepatomegaly, Facial paralysis, Thrombocytopenia, Splenomegaly, Facial palsy |
OMIM:259700 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Eosinophilia, Thro... |
OMIM:603554 |
Bleeding Disorder, Platelet-Type, 17 |
|
Impaired epinephrine-induced platelet aggregation, Macrothrombocytopenia, Increased RBC distribut... |
OMIM:187900 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Polyhydramnios, Pericardial effusion, Medial calcification of large arte... |
ORPHA:51608 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Reduced natural killer cell count, B lymphocytopenia, Petechiae, Pancytopenia, Bone marrow hypoce... |
OMIM:620133 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Pulmonary arterial hypertension, Recurrent pneumonia, Ventricular septal defect, Atrial septal de... |
OMIM:616449 |
Melas |
|
Pulmonary arterial hypertension, Anemia, Concentric hypertrophic cardiomyopathy, Abnormal mitocho... |
ORPHA:550 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Aplastic anemia, Pulmonary fibrosis |
OMIM:224230 |
Familial Hyperaldosteronism Type I |
|
Epistaxis, Intracranial hemorrhage, Hypertension |
ORPHA:403 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop... |
OMIM:603909 |
Fg Syndrome Type 1 |
|
Pulmonary arterial hypertension, Mitral valve prolapse, Atrial septal defect, Coarctation of aort... |
ORPHA:93932 |
Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, C... |
OMIM:601494 |
Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Thrombocytopen... |
OMIM:139090 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect, Left superior vena cava draining to c... |
ORPHA:464738 |
Mucopolysaccharidosis, Type Vi |
|
Pulmonary arterial hypertension, Flexion contracture, Pulmonary insufficiency, Tricuspid regurgit... |
OMIM:253200 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage |
ORPHA:398189 |
Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Impaired neutrophil... |
ORPHA:811 |
Bangstad Syndrome |
|
Pancytopenia |
OMIM:210740 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia |
OMIM:613987 |
Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Thrombocytopenia, Splenomegaly, Reticulocytosis |
OMIM:611490 |
Alpha-2-Plasmin Inhibitor Deficiency |
|
Joint hemorrhage, Hemothorax, Bruising susceptibility, Persistent bleeding after trauma |
OMIM:262850 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia |
OMIM:615750 |
Autoerythrocyte Sensitization Syndrome |
|
Intracranial hemorrhage, Bruising susceptibility, Ecchymosis, Epistaxis, Edema, Oral cavity bleed... |
ORPHA:324636 |
Familial Hyperaldosteronism Type Ii |
|
Epistaxis, Intracranial hemorrhage, Hypertension |
ORPHA:404 |
Pediatric Systemic Lupus Erythematosus |
|
Pericardial effusion, Raynaud phenomenon, Pleural effusion, Edema, Ascites |
ORPHA:93552 |
Diffuse Neonatal Hemangiomatosis |
|
Anemia, Thrombocytopenia |
ORPHA:2123 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Left ventricular hypertrophy, Angina pectoris, Myocardial fibrosis, Hypertrophic cardiomyopathy, ... |
OMIM:613873 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Elevated pulmonary artery pressure, Bidirectional shunt, Patent ductus arteriosus, Pulmonary hypo... |
OMIM:619351 |
Viss Syndrome |
|
Aortic tortuosity, Polyhydramnios, Ascending tubular aorta aneurysm, Pneumothorax, Carotid artery... |
OMIM:619472 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Pleural effusion, Anasarca, Ascites, Hematochezia |
OMIM:618183 |
Immunodeficiency 14B, Autosomal Recessive |
|
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis |
OMIM:619281 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Thrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia |
OMIM:603585 |
Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... |
OMIM:163800 |
Atrial Septal Defect 1 |
|
Subvalvular aortic stenosis, Ventricular septal defect, Tetralogy of Fallot with pulmonary atresi... |
OMIM:108800 |
Q Fever |
|
Endocarditis, Pericardial effusion, Purpura, Pericarditis, Pleural effusion, Abnormal left ventri... |
ORPHA:781 |
Cardiogenic Shock |
|
Hypotension, Impaired myocardial contractility, Abnormal EKG, Elevated jugular venous pressure, C... |
ORPHA:97292 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Thrombocytopenia, B lymphocytopenia, Increased CD4:CD8 ratio, Decreased proportion of memory B cells |
OMIM:618048 |
Babesiosis |
|
Leukopenia, Thrombocytopenia, Splenomegaly, Hemolytic anemia |
ORPHA:108 |
3Q29 Microdeletion Syndrome |
|
Pulmonary arterial hypertension, Subvalvular aortic stenosis, Patent ductus arteriosus |
ORPHA:65286 |
Transaldolase Deficiency |
|
Anemia, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:101028 |
Isolated Agammaglobulinemia |
|
Anemia, Abnormality of neutrophils, Recurrent cutaneous abscess formation, Thrombocytopenia, Abno... |
ORPHA:229717 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Pulmonary arterial hypertension, Congestive heart failure, Respiratory distress, Central apnea, R... |
OMIM:616482 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Thrombocytopenia |
OMIM:614727 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Hypersplenism, Camptodactyly, Pancytopenia,... |
ORPHA:228426 |
Immunodeficiency 102 |
|
Leukopenia, Anemia, Reduced natural killer cell count, B lymphocytopenia, Neutropenia in presence... |
OMIM:301082 |
Joubert Syndrome 14 |
|
Meningocele, Encephalocele, Ventricular septal defect, Hypertension, Intracranial hemorrhage |
OMIM:614424 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten... |
OMIM:171420 |
Lethal Congenital Contracture Syndrome 5 |
|
Retinal hemorrhage, Polyhydramnios, Subdural hemorrhage |
OMIM:615368 |
Adams-Oliver Syndrome 1 |
|
Pulmonary arterial hypertension, Ventricular septal defect, Bicuspid aortic valve, Hypertension, ... |
OMIM:100300 |
Myh9-Related Disease |
|
Congenital thrombocytopenia, Neutrophil inclusion bodies, Increased mean platelet volume, Giant p... |
ORPHA:182050 |
Fanconi Anemia, Complementation Group C |
|
Anemia, Flexion contracture, Ventricular septal defect, Reticulocytopenia, Bruising susceptibilit... |
OMIM:227645 |
Osteogenesis Imperfecta, Type Iii |
|
Pulmonary arterial hypertension |
OMIM:259420 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Respiratory insufficiency, Abnormal pulmonary interstitial morphology, Anemia, Dilatation of the ... |
OMIM:613658 |
Juvenile Polyposis Syndrome |
|
Pulmonary arterial hypertension, Anemia, Hepatic arteriovenous malformation, Mucosal telangiectas... |
ORPHA:2929 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericardial effusion, Nonimmune hydrops fetalis, Pericarditis, Edema, Stroke-like episode, Prolon... |
OMIM:212065 |
Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Bone marrow hypocellularity, Pancytopenia |
OMIM:613988 |
Fanconi Anemia, Complementation Group E |
|
Anemia, Reticulocytopenia, Bruising susceptibility, Pancytopenia, Abnormal heart morphology, Thro... |
OMIM:600901 |
Beta-Thalassemia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:848 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Cerebellar hemorrhage, Cerebral edema, Dilated cardiomyopathy, Congestive h... |
ORPHA:99901 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
ORPHA:158029 |
Menkes Disease |
|
Intracranial hemorrhage, Intrauterine growth retardation |
OMIM:309400 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Thrombocytopenia, Neutropenia, Anemia |
ORPHA:289916 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Thrombocytopenia, Anemia, Macrocytic anemia |
ORPHA:27 |
Lymphedema-Distichiasis Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Lymphedema, Predominantly lower limb lymphed... |
OMIM:153400 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary arterial hypertension, Anemia, Bruising susceptibility, Apnea, Chronic rhinitis, Abnorm... |
ORPHA:667 |
Degcags Syndrome |
|
Polyhydramnios, Hepatosplenomegaly, Hepatomegaly, Pneumonia, Patent foramen ovale, Ventricular se... |
OMIM:619488 |
Stuve-Wiedemann Syndrome 1 |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Knee flexion contracture, Pulmonary a... |
OMIM:601559 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
Marfanoid Habitus With Situs Inversus |
|
Aortic root aneurysm, Mitral valve prolapse, Aortic regurgitation, Situs inversus totalis, Persis... |
OMIM:609008 |
Diamond-Blackfan Anemia 5 |
|
Leukopenia, Ventricular septal defect, Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia |
OMIM:612528 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Transposition ... |
OMIM:616749 |
Lymphoid Interstitial Pneumonia |
|
Respiratory tract infection, Subpleural interstitial thickening, Bronchiectasis, Enlarged kidney,... |
ORPHA:79128 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal natural killer cell count, Abnormal B cell count, Hepatosplenomegaly, Lymphopenia, Autoi... |
ORPHA:331206 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Hypertension, Cerebral hemorrhage |
OMIM:618886 |
Fanconi Anemia, Complementation Group A |
|
Anemia, Reticulocytopenia, Bruising susceptibility, Pancytopenia, Abnormal heart morphology, Thro... |
OMIM:227650 |
Hypophosphatasia, Infantile |
|
Polyhydramnios, Intracranial hemorrhage, Stillbirth |
OMIM:241500 |
Congenital Toxoplasmosis |
|
Thrombocytopenia, Anemia |
ORPHA:858 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular hemoglobin concentration, Congenital hemolytic anemia, Hemolytic anemi... |
ORPHA:3202 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Spina bifida occulta, Polyhydramnios, Subdural hemorrhage |
OMIM:618291 |
Alkuraya-Kucinskas Syndrome |
|
Pericardial effusion, Edema, Pleural effusion |
OMIM:617822 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pulmonary arterial hypertension, Leukopenia, Anemia, Elliptocytosis, Pancytopenia, Oligohydramnio... |
ORPHA:2785 |
Fanconi Anemia, Complementation Group D2 |
|
Patent ductus arteriosus, Anemia, Reticulocytopenia, Bruising susceptibility, Pancytopenia, Bone ... |
OMIM:227646 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
Carey-Fineman-Ziter Syndrome 1 |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Flexion contracture, Abnormal cardiac... |
OMIM:254940 |
Gamma-Heavy Chain Disease |
|
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, Splenomegaly,... |
ORPHA:100026 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Thrombocytopenia, Neutropenia, Splenomegaly, Anemia |
ORPHA:79312 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Pulmonary arterial hypertension, Flexion contracture, Central sleep apnea, Camptodactyly, Prolong... |
OMIM:620029 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Dehydration, Cerebellar hemorrhage, Cardiomyopathy |
OMIM:251000 |
Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia |
OMIM:612952 |
Encephalocraniocutaneous Lipomatosis |
|
Pulmonary arterial hypertension, Abnormal aortic morphology, Interrupted aortic arch, Coarctation... |
ORPHA:2396 |
Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
Renal Nutcracker Syndrome |
|
Dilatation of mesenteric artery, Anemia, Vulval varicose vein, Syncope, Tachycardia, Renal artery... |
ORPHA:71273 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Systolic heart murmur, Truncus arteriosus, Ventricular septal defect, Interrupted aortic arch, At... |
OMIM:617478 |
Loeys-Dietz Syndrome 6 |
|
Abdominal aortic aneurysm, Ventricular hypertrophy, Vertebral artery aneurysm, Carotid artery dis... |
OMIM:619656 |
Neurocutaneous Melanocytosis |
|
Meningocele, Intracranial hemorrhage |
ORPHA:2481 |
Pearson Syndrome |
|
Anemia, Hydrops fetalis, Corneal stromal edema, Reticulocytosis, Pancytopenia, Hypoplastic spleen... |
ORPHA:699 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Abnormal T-wave, Intracranial hemorrhage, Hypertension, Epistaxis, Palpitations |
ORPHA:231625 |
Aspergillosis |
|
Pleural effusion, Stroke, Intracranial hemorrhage |
ORPHA:1163 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Pulmonary arterial hypertension, Patent foramen ovale, Patent ductus arteriosus, Ventricular sept... |
OMIM:618454 |
Juvenile Idiopathic Arthritis |
|
Pericardial effusion, Joint swelling |
ORPHA:92 |
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome |
|
Pulmonary arterial hypertension, Recurrent respiratory infections, Hypoxemia, Patent ductus arter... |
ORPHA:2282 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Aortic root aneurysm, Carotid artery stenosis, Pericardial effusion, Mitral valve prolapse, Bruis... |
ORPHA:536532 |
Blau Syndrome |
|
Pulmonary arterial hypertension, Camptodactyly of finger, Anemia, Large vessel vasculitis, Aortic... |
ORPHA:90340 |
Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
Specific Granule Deficiency 2 |
|
Thrombocytopenia, Neutropenia, Absent neutrophil specific granules, Anemia |
OMIM:617475 |
Immunodeficiency 68 |
|
Abnormal natural killer cell count, Abscess, T lymphocytopenia, B lymphocytopenia |
OMIM:612260 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:612783 |
Pearson Marrow-Pancreas Syndrome |
|
Anemia, Hydrops fetalis, Reticulocytopenia, Refractory sideroblastic anemia, Sideroblastic anemia... |
OMIM:557000 |
Mirage Syndrome |
|
Patent ductus arteriosus, Intracranial hemorrhage, Intrauterine growth retardation, Petechiae |
OMIM:617053 |
Angioosteohypertrophic Syndrome |
|
Pulmonary embolism, Lymphedema, Congestive heart failure, Venous insufficiency, Peripheral arteri... |
ORPHA:2346 |
Fabry Disease |
|
Anemia, Lymphedema, Transient ischemic attack, Left ventricular hypertrophy, Congestive heart fai... |
OMIM:301500 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Aplastic anemia, Bone marrow hypocellularity, Pancytopenia |
OMIM:617052 |
Marshall-Smith Syndrome |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Aspiration pneumonia, Ventricular sept... |
OMIM:602535 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Lacunar stroke, Varicose veins, Stroke |
OMIM:125310 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic root aneurysm, Ventricular hypertrophy, Aortic atherosclerotic lesion, Congestive heart fa... |
ORPHA:363618 |
Stt3B-Cdg |
|
Thrombocytopenia |
ORPHA:370924 |
Preeclampsia |
|
Thrombocytopenia |
ORPHA:275555 |
Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope... |
OMIM:169400 |
Hepatocellular Carcinoma |
|
Hypotension, Pedal edema, Anemia, Polycythemia, Internal hemorrhage, Venous insufficiency, Thromb... |
ORPHA:88673 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia |
OMIM:249270 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... |
OMIM:300967 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Thrombocytopenia, Bone marrow hypocellularity, Hepatosplenomegaly |
ORPHA:210136 |
Hutchinson-Gilford Progeria Syndrome |
|
Ventricular hypertrophy, Left ventricular diastolic dysfunction, Atherosclerosis, Angina pectoris... |
ORPHA:740 |
Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
Sitosterolemia 1 |
|
Stomatocytosis, Anemia, Reticulocytosis, Impaired platelet aggregation, Episodic hemolytic anemia... |
OMIM:210250 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Abnormal cardiac ventricular function, Ventricula... |
ORPHA:466791 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Thrombocytopenia |
OMIM:615597 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytos... |
ORPHA:86839 |
Letterer-Siwe Disease |
|
Thrombocytopenia, Anemia, Neutropenia, Hepatosplenomegaly |
OMIM:246400 |
Varicose Veins |
|
Varicose veins |
OMIM:192200 |
Enlarged Parietal Foramina |
|
Venous malformation, Abnormal cerebral vein morphology |
ORPHA:60015 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Bilateral superior vena cava with bridging vein, Wolff-Parkinson-White syndrome, Abnormal left ve... |
ORPHA:216694 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612924 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytop... |
OMIM:304790 |
Wiskott-Aldrich Syndrome |
|
Sudden cardiac death, Petechiae, Purpura, Intracranial hemorrhage, Bruising susceptibility, Inter... |
ORPHA:906 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Abnormal cerebral vascular morphology, Enlarged kidney, Abnormal venous morphology, Telangiectasi... |
ORPHA:276280 |
Rhabdoid Tumor |
|
Thrombocytopenia, Anemia |
ORPHA:69077 |
Stormorken Syndrome |
|
Abnormal bleeding, Bruising susceptibility, Epistaxis, Stroke-like episode, Subarachnoid hemorrhage |
OMIM:185070 |
Incontinentia Pigmenti |
|
Pulmonary arterial hypertension, Retinal hemorrhage, Camptodactyly of finger, Cerebral ischemia, ... |
ORPHA:464 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Pulmonary arterial hypertension, Patent foramen ovale, Aortic root aneurysm, Patent ductus arteri... |
ORPHA:444077 |
Meacham Syndrome |
|
Pulmonary hypoplasia, Aplasia of the left hemidiaphragm, Ventricular septal defect, Enlarged kidn... |
OMIM:608978 |
Pulmonary Alveolar Microlithiasis |
|
Respiratory insufficiency, Pneumothorax, Bronchiectasis, Oxygen desaturation on exertion, Periphe... |
ORPHA:60025 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612926 |
Fontaine Progeroid Syndrome |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Patent ductus arteriosus, Pneumothora... |
OMIM:612289 |
Hemophagocytic Syndrome Associated With An Infection |
|
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Pancytopenia, He... |
ORPHA:158048 |
Von Willebrand Disease, Type 3 |
|
Thrombocytopenia, Impaired platelet aggregation |
OMIM:277480 |
Glycogen Storage Disease Ii |
|
Right axis deviation, Sinus tachycardia, Wolff-Parkinson-White syndrome, Pleural effusion, Shorte... |
OMIM:232300 |
Hallermann-Streiff Syndrome |
|
Pulmonary arterial hypertension, Telangiectasia, Hypertension, Recurrent pneumonia, Tracheomalaci... |
OMIM:234100 |
Glycogen Storage Disease Ic |
|
Pulmonary arterial hypertension, Spider hemangioma, Hypertension, Recurrent upper respiratory tra... |
OMIM:232240 |
Alg9-Cdg |
|
Hydrops fetalis, Ventricular septal defect, Pericardial effusion, Abnormal left ventricular outfl... |
ORPHA:79328 |
Seckel Syndrome 1 |
|
Elbow flexion contracture, Pancytopenia |
OMIM:210600 |
Tularemia |
|
Anemia, Brain abscess, Cutaneous abscess, Leukocytosis, Thrombocytopenia |
ORPHA:3392 |
Clapo Syndrome |
|
Varicose veins, Venous malformation, Lymphedema |
ORPHA:168984 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent cir... |
OMIM:619705 |
Lymphedema-Distichiasis Syndrome |
|
Patent ductus arteriosus, Predominantly lower limb lymphedema, Arrhythmia, Varicose veins, Abnorm... |
ORPHA:33001 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Patent ductus arteriosus, Polyhydramnios, Diastasis recti, Ventricular septal defect, Transpositi... |
OMIM:312870 |
Spastic Paraplegia Type 2 |
|
Pulmonary embolism, Recurrent respiratory infections |
ORPHA:99015 |
Alpha-Mannosidosis, Infantile Form |
|
Macroglossia, Pancytopenia, Hepatosplenomegaly, Aortic regurgitation, Myopathy, Facial hypotonia,... |
ORPHA:309282 |
Immunodeficiency 57 With Autoinflammation |
|
Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, Perianal abscess |
OMIM:618108 |
15Q Overgrowth Syndrome |
|
Pulmonary arterial hypertension, Contracture of the proximal interphalangeal joint of the 2nd fin... |
ORPHA:314585 |
Idiopathic Hypereosinophilic Syndrome |
|
Supraventricular arrhythmia, Hepatosplenomegaly, Pleural effusion, Eosinophilia, Myeloproliferati... |
ORPHA:3260 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Atrioventricular canal defect, Polyhydramnios, Unbalanced atrioventricular canal defect, Cardiac ... |
OMIM:619534 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Pulmonary embolism, Pedal edema, Respiratory tract infection, Hypertension, Pleural effusion, Ede... |
ORPHA:567546 |
Intermediate Osteopetrosis |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage |
ORPHA:100008 |
Liposarcoma |
|
Varicose veins |
ORPHA:69078 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Schwartz-Jampel Syndrome |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Wrist flexion contracture, Polyhydram... |
ORPHA:800 |
Congenital Rubella Syndrome |
|
Thrombocytopenia, Splenomegaly, Anemia |
ORPHA:290 |
Abeta Amyloidosis, Dutch Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:100006 |
Martin-Probst Syndrome |
|
Telangiectasia, Pancytopenia |
OMIM:300519 |
Portal Hypertension, Noncirrhotic, 2 |
|
Thrombocytopenia, Splenomegaly |
OMIM:619463 |
Cerebral Visual Impairment |
|
Intracranial hemorrhage, Ischemic stroke |
ORPHA:447788 |
Pheochromocytoma |
|
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Renal artery sten... |
OMIM:171300 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612925 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Neutropenia, Bone marrow hypocellularity, Anemia |
OMIM:614520 |
Myhre Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Pericardial effusion, Hypertension, Atrial s... |
OMIM:139210 |
17Q11 Microdeletion Syndrome |
|
Pulmonary arterial hypertension, Abnormal internal carotid artery morphology, Leukemia, Hypertens... |
ORPHA:97685 |
Cyclic Neutropenia |
|
Perianal abscess, Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, ... |
ORPHA:2686 |
Fanconi Anemia, Complementation Group P |
|
Anemia, Pancytopenia |
OMIM:613951 |
Aymé-Gripp Syndrome |
|
Pericardial effusion, Pericarditis, Patent ductus arteriosus |
ORPHA:1272 |
Hermansky-Pudlak Syndrome 5 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Absent platelet dense granules |
OMIM:614074 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Abnormal heart morphology, Intraventricular hemorrhage, Intrauterine growth retardation |
ORPHA:79284 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Fetal intraventricular hemorrhage, Increased nuchal translucency, Oligohydramnios |
OMIM:618480 |
Lipodystrophy, Familial Partial, Type 7 |
|
Pulmonary arterial hypertension, Lower limb muscle weakness, Pulmonary arteriovenous malformation... |
OMIM:606721 |
Griscelli Syndrome |
|
Leukopenia, Abnormality of neutrophils, Bone marrow hypocellularity, Thrombocytopenia, Splenomegaly |
ORPHA:381 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Bicuspid aortic valve, Cerebral arteriovenous malformation, Myocardial infarction, Recurrent pneu... |
OMIM:150230 |
Relapsing Fever |
|
Leukopenia, Anemia, Neutrophilia, Leukocytosis, Thrombocytopenia |
ORPHA:91547 |
Fanconi Anemia, Complementation Group N |
|
Aplastic anemia, Ventricular septal defect |
OMIM:610832 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Subarachnoid hemorrhage, Cerebral vasculitis |
OMIM:243700 |
Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Telangiectasia, Subcutaneous hemorrhage, Arteriovenous malformation, Lymphedema, Aortic aneurysm,... |
ORPHA:109 |
Autosomal Dominant Spastic Paraplegia Type 10 |
|
Upper limb amyotrophy, Distal lower limb amyotrophy, Lower limb muscle weakness, Dupuytren contra... |
ORPHA:100991 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hepatosplenomegaly, Hemophagocytosis, Monocytosis, Thrombocytopenia |
OMIM:619644 |
Heterotaxy, Visceral, 12, Autosomal |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Left superior ven... |
OMIM:619702 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Heart murmur, Interrupted aortic arch, Intra... |
ORPHA:163979 |
1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Moyamoya phenomenon |
ORPHA:401986 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:276621 |
Ctcf-Related Neurodevelopmental Disorder |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Pulmonary hemorrhage, Atrial septal de... |
ORPHA:363611 |
Thymic Neuroendocrine Tumor |
|
Abnormal vena cava morphology, Cough, Abnormal breath sound, Prominent veins on trunk |
ORPHA:97289 |
Isotretinoin-Like Syndrome |
|
Patent ductus arteriosus, Conotruncal defect, Bicuspid aortic valve, Lymphopenia, Abnormal aortic... |
ORPHA:2306 |
Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia |
ORPHA:1237 |
Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, Sple... |
ORPHA:158061 |
Hennekam Syndrome |
|
Hydrops fetalis, Lymphedema, Pericardial effusion, Arteriovenous malformation, Pulmonary lymphang... |
ORPHA:2136 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Anemia, Pneumothorax, Pulmonary bleb, Repeated pneumothoraces, Hemothorax, Nodular pattern on pul... |
OMIM:130050 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Thrombocytopenia |
OMIM:616577 |
H Syndrome |
|
Upper eyelid edema, Facial telangiectasia, Bronchiectasis, Enlarged kidney, Camptodactyly, Recurr... |
ORPHA:168569 |
Yunis-Varon Syndrome |
|
Pulmonary arterial hypertension, Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Hype... |
ORPHA:3472 |
Rothmund-Thomson Syndrome |
|
Anemia, Calcinosis, Telangiectasia of the skin, Aplastic anemia, Neutropenia, Leukemia, Facial edema |
ORPHA:2909 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... |
ORPHA:98849 |
Lymphangioleiomyomatosis |
|
Lymphedema, Chylopericardium, Chylothorax, Gastrointestinal hemorrhage, Ascites, Pulmonary lympha... |
ORPHA:538 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Lymphopenia, Bone marrow hypocellularit... |
ORPHA:508542 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Pulmonary arterial hypertension, Polyhydramnios, Diastasis recti, Flexion contracture, Ventricula... |
ORPHA:96334 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Camptodactyly of finger, Flexion contra... |
OMIM:143095 |
Immunodeficiency 40 |
|
Eosinophilic granuloma, Thrombocytopenia, T lymphocytopenia |
OMIM:616433 |
Gitelman Syndrome |
|
Abnormal T-wave, Pericardial effusion, Prominent U wave, Raynaud phenomenon, Low-to-normal blood ... |
ORPHA:358 |
Rothmund-Thomson Syndrome Type 1 |
|
Anemia, Telangiectasia, Calcinosis, Aplastic anemia, Neutropenia, Leukemia, Facial edema |
ORPHA:221008 |
Menkes Disease |
|
Vascular dilatation, Abnormal carotid artery morphology, Intracranial hemorrhage, Venous insuffic... |
ORPHA:565 |
Proteus-Like Syndrome |
|
Bronchogenic cyst, Thymus hyperplasia, Splenomegaly, Venous insufficiency |
ORPHA:2969 |
Felty Syndrome |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Splenomegaly, Abnormal lympho... |
ORPHA:47612 |
Classic Homocystinuria |
|
Pulmonary embolism, Cerebral ischemia, Subcutaneous hemorrhage, Arteriovenous malformation, Intra... |
ORPHA:394 |
Cog4-Cdg |
|
Thrombocytopenia, Hepatosplenomegaly |
ORPHA:263501 |
Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
Foix-Alajouanine Syndrome |
|
Distal lower limb amyotrophy, Lower limb muscle weakness, Arteriovenous fistula, Venous malformat... |
ORPHA:79093 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Abnormal vena cava morphology, Ventricular septal defect, Heart murmur |
ORPHA:166035 |
Chronic Graft Versus Host Disease |
|
Flexion contracture, Pneumothorax, Bronchiectasis, Bronchiolitis obliterans, Pancytopenia, Pleura... |
ORPHA:99921 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Vascular dilatation, Camptodactyly, Bruising susceptibility, Aortic dissection, Varicose veins, P... |
OMIM:618343 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:47 |
Immunodeficiency 92 |
|
B lymphocytopenia, Lymphocytosis, Decreased proportion of class-switched memory B cells, Thromboc... |
OMIM:619652 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Antenatal intracerebral hemorrhage, Cerebral hemorrhage, Bicuspid aortic valve, Aortic aneurysm, ... |
ORPHA:536545 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Antenatal intracerebral hemorrhage, Dilated cardiomyopathy, Oligohydramnios, Arrhythmia, Cardiome... |
OMIM:608836 |
Boutonneuse Fever |
|
Leukopenia, Thrombocytopenia |
ORPHA:83313 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Leukopenia, Anemia, Pancytopenia, Restrictive ventilatory defect, Bone ma... |
OMIM:305000 |
Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage |
OMIM:616507 |
Cog1-Cdg |
|
Pulmonary arterial hypertension, Atrial septal dilatation, Hepatosplenomegaly |
ORPHA:263508 |
Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Hypersplenism, Thrombocytopenia, Splenomegaly |
ORPHA:64743 |
Immunodeficiency 22 |
|
Thrombocytopenia, Abscess, Anemia, Decreased proportion of CD4-positive helper T cells |
OMIM:615758 |
Chediak-Higashi Syndrome |
|
Leukopenia, Anemia, Giant neutrophil granules, Hemophagocytosis, Impaired neutrophil bactericidal... |
OMIM:214500 |
Hoyeraal-Hreidarsson Syndrome |
|
Thrombocytopenia, Abnormal leukocyte morphology, Bone marrow hypocellularity, Anemia |
ORPHA:3322 |
Mccune-Albright Syndrome |
|
Bone marrow hypocellularity, Pancytopenia |
ORPHA:562 |
Wolfram Syndrome 1 |
|
Thrombocytopenia, Sideroblastic anemia, Megaloblastic anemia |
OMIM:222300 |
Tsh-Secreting Pituitary Adenoma |
|
Hypotension, Pericardial effusion, Ventricular arrhythmia, Supraventricular arrhythmia, Congestiv... |
ORPHA:91347 |
Melnick-Needles Syndrome |
|
Pulmonary arterial hypertension, Mitral valve prolapse, Recurrent respiratory infections, Tricusp... |
OMIM:309350 |
Tetrasomy 9P |
|
Pulmonary arterial hypertension, Patent foramen ovale, Juxtaductal coarctation of the aorta, Abno... |
ORPHA:3310 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Thrombocytopenia, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis |
OMIM:274150 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Pulmonary embolism, Respiratory tract infection, Edema, Periorbital edema |
ORPHA:567548 |
Loeys-Dietz Syndrome 3 |
|
Aortic tortuosity, Ventricular hypertrophy, Ascending aortic dissection, Thoracic aortic aneurysm... |
OMIM:613795 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Torticollis, Varicose veins |
OMIM:314300 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intraventricular hemorrhage, Neonatal death, Intrauterine growth retardation, Prolonged prothromb... |
OMIM:619055 |
Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Imp... |
OMIM:608233 |
Lysosomal Acid Lipase Deficiency |
|
Leukopenia, Anemia, Hypersplenism, Hepatosplenomegaly, Bone-marrow foam cells, Thrombocytopenia, ... |
OMIM:278000 |
Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia |
ORPHA:79242 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Thrombocytopenia, Anemia |
OMIM:608104 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:29072 |
Hydranencephaly |
|
Antenatal intracerebral hemorrhage, Dilatation of the ventricular cavity, Abnormal cerebral arter... |
ORPHA:2177 |
Braddock-Carey Syndrome 1 |
|
Thrombocytopenia |
OMIM:619980 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Thrombocytopenia, Leukocytosis |
ORPHA:83601 |
Ebola Hemorrhagic Fever |
|
Leukopenia, Thrombocytopenia, Lymphopenia |
ORPHA:319218 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Venous malformation |
OMIM:612918 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Thrombocytopenia, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis |
OMIM:235400 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Thrombocytopenia |
OMIM:617710 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Thrombocytopenia |
ORPHA:96181 |
Prolidase Deficiency |
|
Thrombocytopenia, Splenomegaly, Anemia |
OMIM:170100 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Thrombocytopenia, Splenomegaly, Lymphopenia |
OMIM:617591 |
Kasabach-Merritt Syndrome |
|
Leukopenia, Anemia, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Neutrop... |
ORPHA:2330 |
Smith-Kingsmore Syndrome |
|
Thrombocytopenia |
OMIM:616638 |
Zika Virus Disease |
|
Thrombocytopenia |
ORPHA:448237 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Cerebral hemorrhage |
OMIM:301081 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Thrombocytopenia, Splenomegaly |
ORPHA:169090 |
Wilson Disease |
|
Thrombocytopenia, Splenomegaly, Anemia |
ORPHA:905 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Retinal hemorrhage, Subdural hemorrhage |
ORPHA:25 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Leukopenia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly |
OMIM:267700 |
Rothmund-Thomson Syndrome Type 2 |
|
Anemia, Calcinosis, Aplastic anemia, Neutropenia, Leukemia, Facial edema |
ORPHA:221016 |
Necrotizing Enterocolitis |
|
Thrombocytopenia, Neutropenia, Leukocytosis |
ORPHA:391673 |
Glomuvenous Malformation |
|
Arteriovenous malformation, Gastrointestinal arteriovenous malformation, Venous malformation |
ORPHA:83454 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Thrombocytopenia |
ORPHA:3240 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Thrombocytopenia |
OMIM:611126 |
Vexas Syndrome |
|
Thrombocytopenia, Macrocytic anemia |
OMIM:301054 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, Splenomegaly |
ORPHA:540 |
Alg8-Cdg |
|
Thrombocytopenia, Anemia |
ORPHA:79325 |
Behçet Disease |
|
Endocarditis, Pulmonary embolism, Cerebral ischemia, Pleuritis, Pericarditis, Myocardial infarcti... |
ORPHA:117 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hypertension, Intracranial hemorrhage |
ORPHA:90795 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Severe B lymphocytopenia, Autoimmune... |
OMIM:102700 |
Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
Cockayne Syndrome Type 3 |
|
Aortic root aneurysm, Retinal hemorrhage, Premature coronary artery atherosclerosis, Subdural hem... |
ORPHA:90324 |
Avian Influenza |
|
Leukopenia, Thrombocytopenia, Lymphopenia |
ORPHA:454836 |
Good Syndrome |
|
Anemia, Thrombocytopenia, Abnormal leukocyte morphology |
ORPHA:169105 |
Mucopolysaccharidosis-Plus Syndrome |
|
Leukopenia, Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Splenomegaly |
OMIM:617303 |
Superficial Siderosis |
|
Abnormal vertebral artery morphology, Arteriovenous malformation, Abnormal bleeding, Internal hem... |
ORPHA:247245 |
Mevalonic Aciduria |
|
Anemia, Hepatosplenomegaly, Normocytic hypoplastic anemia, Leukocytosis, Thrombocytopenia, Fluctu... |
OMIM:610377 |
Ivic Syndrome |
|
Thrombocytopenia, Leukocytosis |
ORPHA:2307 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage |
OMIM:616682 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Anemia |
OMIM:614946 |
Pediatric-Onset Graves Disease |
|
Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia, Splenomegaly |
ORPHA:525731 |
Acute Liver Failure |
|
Hypotension, Cerebral edema, Abnormal bleeding, Intracranial hemorrhage, Bruising susceptibility,... |
ORPHA:90062 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Leukopenia, Thrombocytopenia |
OMIM:301056 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Polyhydramnios, Intraventricular hemorrhage |
OMIM:613603 |
Pseudo-Torch Syndrome 1 |
|
Thrombocytopenia, Splenomegaly |
OMIM:251290 |
3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, Thrombocytopenia, Neutropenia |
OMIM:616271 |
Neuroleptic Malignant Syndrome |
|
Hypotension, Pulmonary embolism, Aspiration pneumonia, Rhabdomyolysis, Hypertension, Hypertensive... |
ORPHA:94093 |
Sturge-Weber Syndrome |
|
Pulmonary embolism, Stroke, Conjunctival telangiectasia, Abnormal cerebral vascular morphology |
ORPHA:3205 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thrombocytopenia, Anemia, Giant platelets |
OMIM:611209 |
Revesz Syndrome |
|
Aplastic anemia, Bone marrow hypocellularity |
OMIM:268130 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Thrombocytopenia, Neutropenia, Splenomegaly |
OMIM:308230 |
Familial Chylomicronemia Syndrome |
|
Pulmonary embolism, Precocious atherosclerosis, Hepatosplenomegaly |
ORPHA:444490 |
Dubowitz Syndrome |
|
Aplastic anemia, Acute lymphoblastic leukemia |
OMIM:223370 |
Inhalational Anthrax |
|
Hypotension, Internal hemorrhage |
ORPHA:247257 |
Medulloblastoma |
|
Cerebellar hemorrhage |
ORPHA:616 |
Arachnoid Cyst |
|
Subarachnoid hemorrhage, Encephalocele |
ORPHA:2356 |
22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Hypoplasia of the thymus, Truncus arteriosus, Retinal arteriolar tortuosity, Abno... |
ORPHA:567 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Subdural hemorrhage, Intrauterine growth retardation |
OMIM:619714 |
Fanconi Anemia, Complementation Group F |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:603467 |
Dpagt1-Cdg |
|
Anasarca, Prolonged QT interval, Intracranial hemorrhage, Stroke-like episode |
ORPHA:86309 |
Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... |
ORPHA:124 |
Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia |
OMIM:253270 |
Osteogenesis Imperfecta |
|
Aortic root aneurysm, Cerebral hemorrhage, Mitral valve prolapse, Aortic aneurysm, Arterial disse... |
ORPHA:666 |
Noonan Syndrome 4 |
|
Thrombocytopenia |
OMIM:610733 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Thrombocytopenia, Neutropenia |
OMIM:617941 |
Sepsis In Premature Infants |
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Anemia, Leukocytosis, Thrombocytopenia, Neutropenia, Splenomegaly |
ORPHA:90051 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Impaired ristocetin-induced plate... |
ORPHA:274 |
Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Decreased proportion of CD8-pos... |
OMIM:301000 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Spina bifida, Bicuspid aortic valve, Aortic aneurysm, Atrial septal de... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Ventricular septal defect, Spina bifida, Bicuspid aortic valve, Aortic aneurysm, Atrial septal de... |
ORPHA:363958 |
Aicardi-Goutieres Syndrome 1 |
|
Thrombocytopenia, Splenomegaly |
OMIM:225750 |
Nelson Syndrome |
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Hypertension, Intracranial hemorrhage |
ORPHA:199244 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
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Intracranial hemorrhage |
ORPHA:91350 |
Thauvin-Robinet-Faivre Syndrome |
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Pedal edema, Ventricular septal defect, Mitral valve prolapse, Macroglossia, Transient neutropeni... |
OMIM:617107 |
Diamond-Blackfan Anemia 21 |
|
Anemia, Thrombocytopenia, Erythroid hypoplasia |
OMIM:620072 |
Gaucher Disease, Perinatal Lethal |
|
Thrombocytopenia, Splenomegaly, Anemia, Hepatosplenomegaly |
OMIM:608013 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume |
OMIM:617718 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Yunis-Varon Syndrome |
|
Pulmonary arterial hypertension, Patent foramen ovale, Polyhydramnios, Hydrops fetalis, Aspiratio... |
OMIM:216340 |
Gaucher Disease, Type Ii |
|
Thrombocytopenia, Splenomegaly, Anemia |
OMIM:230900 |
Takenouchi-Kosaki Syndrome |
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Thrombocytopenia, Increased mean platelet volume |
OMIM:616737 |
Lujo Hemorrhagic Fever |
|
Leukocytosis, Leukopenia, Thrombocytopenia, Lymphopenia |
ORPHA:319213 |
48,Xxxy Syndrome |
|
Asthma, Pulmonary embolism, Recurrent respiratory infections |
ORPHA:96263 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Schistocytosis, Leukocytosis, Thrombocytopenia |
ORPHA:90038 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Thrombocytopenia, Normochromic anemia |
OMIM:254900 |
49,Xxxxy Syndrome |
|
Asthma, Pulmonary embolism, Recurrent respiratory infections |
ORPHA:96264 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Thrombocytopenia, Anemia |
OMIM:619743 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Thrombocytopenia |
OMIM:612394 |
Lathosterolosis |
|
Thrombocytopenia, Abnormal platelet morphology, Anisopoikilocytosis |
ORPHA:46059 |
Castleman Disease |
|
Decreased mean corpuscular volume, Thrombocytopenia, Anemia |
ORPHA:160 |
Ivic Syndrome |
|
Thrombocytopenia, Leukocytosis |
OMIM:147750 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Thrombocytopenia, Splenomegaly |
OMIM:251880 |
Farber Disease |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:333 |
Bacterial Toxic-Shock Syndrome |
|
Increased circulating myelocyte count, Thrombocytopenia, Increased circulating metamyelocyte coun... |
ORPHA:36234 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Thrombocytopenia |
ORPHA:457351 |
Riddle Syndrome |
|
Intraventricular hemorrhage, Conjunctival telangiectasia, Telangiectasia |
ORPHA:420741 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Thrombocytopenia, T lymphocytopenia, B lymphocytopenia |
OMIM:251260 |
Vascular Ehlers-Danlos Syndrome |
|
Respiratory insufficiency, Ascending tubular aorta aneurysm, Pneumothorax, Aortic dissection, Apl... |
ORPHA:286 |
Shigellosis |
|
Microangiopathic hemolytic anemia, Leukocytosis, Thrombocytopenia, Splenic abscess, Abscess |
ORPHA:810 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Thrombocytopenia, Neutropenia, Megaloblastic anemia |
OMIM:277400 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Chronic neutropenia, Abnormal right ventricle morphology, Ventricular septal defect, Enlarged kid... |
ORPHA:500095 |
Immunodeficiency 47 |
|
Leukopenia, Normocytic anemia, Accessory spleen, Thrombocytopenia, Splenomegaly |
OMIM:300972 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:261323 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Thrombocytopenia |
ORPHA:572798 |
Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia |
ORPHA:3320 |
Marburg Hemorrhagic Fever |
|
Hypotension, Hypovolemia, Petechiae, Abnormal bleeding, Bruising susceptibility, Internal hemorrh... |
ORPHA:99826 |
Alg12-Cdg |
|
Thrombocytopenia, B lymphocytopenia |
ORPHA:79324 |
Diamond-Blackfan Anemia 1 |
|
Reticulocytopenia, Thrombocytosis, Thrombocytopenia, Neutropenia, Elevated red cell adenosine dea... |
OMIM:105650 |
Alport Syndrome 1, X-Linked |
|
Thrombocytopenia |
OMIM:301050 |
Lysinuric Protein Intolerance |
|
Leukopenia, Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly |
OMIM:222700 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:612199 |
Tangier Disease |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:31150 |
Hypermobile Ehlers-Danlos Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Ascending tubular aorta aneurysm, Arterial ... |
ORPHA:285 |
Meningioma |
|
Syncope, Cerebral hemorrhage |
ORPHA:2495 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Chronic neutropenia, Anemia, Enlarged kidney, Abnormal bleeding, Hypertension, Bruising susceptib... |
ORPHA:79259 |
Toxic Epidermal Necrolysis |
|
Thrombocytopenia, Neutropenia, Anemia |
ORPHA:537 |
Caroli Syndrome |
|
Leukopenia, Liver abscess, Hypersplenism, Leukocytosis, Thrombocytopenia |
ORPHA:480520 |
Acute Transverse Myelitis |
|
Orthostatic hypotension, Subarachnoid hemorrhage, Hypertension |
ORPHA:139417 |
Stevens-Johnson Syndrome |
|
Thrombocytopenia, Anemia, Abnormality of neutrophils |
ORPHA:36426 |
Witteveen-Kolk Syndrome |
|
Polyhydramnios, Intracranial hemorrhage, Branchial fistula, Intrauterine growth retardation |
OMIM:613406 |
Congenital Erythropoietic Porphyria |
|
Leukopenia, Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosi... |
ORPHA:79277 |
Dubowitz Syndrome |
|
Thrombocytopenia, Acute lymphoblastic leukemia, Anemia, Abnormality of neutrophils |
ORPHA:235 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Thrombocytopenia, Decreased hemoglobin concentration |
OMIM:619005 |
Tick-Borne Encephalitis |
|
Leukopenia, Thrombocytopenia, Leukocytosis |
ORPHA:297 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Retinal hemorrhage, Ischemic stroke, Cerebral hemorrhage, Dilation of Virchow-Robin spaces, Retin... |
OMIM:175780 |
Fibular Hemimelia |
|
Thrombocytopenia |
ORPHA:93323 |
Dyskeratosis Congenita |
|
Anemia, Abnormality of neutrophils, Bone marrow hypocellularity, Thrombocytopenia, Splenomegaly |
ORPHA:1775 |
Brucellosis |
|
Leukopenia, Anemia, Liver abscess, Hypersplenism, Granuloma, Lung abscess, Thrombocytosis, Leukoc... |
ORPHA:1304 |
Rift Valley Fever |
|
Thrombocytopenia, Anemia |
ORPHA:319251 |
Occipital Horn Syndrome |
|
Vascular dilatation, Bruising susceptibility, Venous insufficiency |
ORPHA:198 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Thrombocytopenia, Splenomegaly |
OMIM:263700 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Severe B lymphocytopenia, Abnormal lymphocyte morphology, Autoimmune thrombocytopenia |
ORPHA:293978 |
Pmm2-Cdg |
|
Lymphedema, Pericardial effusion, Angina pectoris, Intracranial hemorrhage, Pericarditis, Hypertr... |
ORPHA:79318 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Thrombocytopenia, Splenomegaly |
OMIM:301072 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia, Hemolytic anemia |
ORPHA:647 |
Wilson Disease |
|
Hemolytic anemia, Thrombocytopenia, Splenomegaly, Anemia |
OMIM:277900 |
Alström Syndrome |
|
Pulmonary arterial hypertension, Chronic bronchitis, Recurrent sinusitis, Congestive heart failur... |
ORPHA:64 |
Insulin-Resistance Syndrome Type B |
|
Leukopenia, Thrombocytopenia |
ORPHA:2298 |
Kikuchi-Fujimoto Disease |
|
Leukopenia, Anemia, Lymphocytosis, Thrombocytopenia, Neutropenia, Splenomegaly |
ORPHA:50918 |
Microphthalmia With Limb Anomalies |
|
Camptodactyly of 2nd-5th fingers, Venous insufficiency |
ORPHA:1106 |
Thrombocytopenia-Absent Radius Syndrome |
|
Anemia, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:274000 |
Multiple Osteochondromas |
|
Pseudoaneurysm, Pneumothorax, Hemothorax |
ORPHA:321 |
Cornelia De Lange Syndrome 1 |
|
Thrombocytopenia |
OMIM:122470 |
Primary Sjögren Syndrome |
|
Leukopenia, Normocytic anemia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, ... |
ORPHA:289390 |
Yellow Fever |
|
Reduced left ventricular ejection fraction, Supraventricular arrhythmia, Abnormal bleeding, Inter... |
ORPHA:99829 |
Jacobsen Syndrome |
|
Thrombocytopenia |
OMIM:147791 |
Proteus Syndrome |
|
Sudden cardiac death, Pulmonary embolism, Decreased muscle mass, Enlarged polycystic ovaries, Lym... |
ORPHA:744 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
ORPHA:487796 |
Deeah Syndrome |
|
Thrombocytopenia, Decreased hemoglobin concentration |
OMIM:619004 |
Infection-Related Hemolytic Uremic Syndrome |
|
Thrombocytopenia, Brain abscess, Hemolytic anemia, Leukocytosis |
ORPHA:544482 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Leukopenia, Thrombocytopenia, Anemia |
ORPHA:84 |
Jacobsen Syndrome |
|
Thrombocytopenia, Bone marrow hypocellularity |
ORPHA:2308 |
Lysinuric Protein Intolerance |
|
Leukopenia, Anemia, Hepatosplenomegaly, Hemophagocytosis, Thrombocytopenia |
ORPHA:470 |
Tuberous Sclerosis Complex |
|
Cardiac rhabdomyoma, Aortic aneurysm, Hypertension, Internal hemorrhage, Pulmonary lymphangiomyom... |
ORPHA:805 |
Roberts Syndrome |
|
Thrombocytopenia |
ORPHA:3103 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hypersplenism, Acute promyelocytic leukemia, Autoimmune thrombocytopenia, Thrombocytopenia, Splen... |
ORPHA:77293 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Anemia, Thrombocytopenia, Splenomegaly, Microcytic anemia |
OMIM:619525 |
Oculocerebrorenal Syndrome Of Lowe |
|
Thrombocytopenia, Anemia |
ORPHA:534 |
Hardikar Syndrome |
|
Hypersplenism, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly |
OMIM:301068 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hypersplenism, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly |
ORPHA:731 |
Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, Hepatosplenomegaly |
ORPHA:51 |
Sarcoidosis |
|
Leukopenia, Anemia, Hemolytic anemia, Increased T cell count, Eosinophilia, Thrombocytopenia |
ORPHA:797 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Thrombocytopenia, Splenomegaly, Microcytic anemia |
OMIM:256040 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Thrombocytopenia |
ORPHA:79078 |
Exercise-Induced Malignant Hyperthermia |
|
Thrombocytopenia |
ORPHA:466650 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, B lymphocytopenia |
ORPHA:83617 |
Norrie Disease |
|
Venous insufficiency |
ORPHA:649 |
Digeorge Syndrome |
|
Thrombocytopenia, Hypoplasia of the thymus, Splenomegaly, Anemia |
OMIM:188400 |
Leptospirosis |
|
Thrombocytopenia |
ORPHA:509 |
Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia |
OMIM:163950 |