Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Gait disturbance, Hepatomegaly, Splenomegaly, Ataxia |
ORPHA:2274 |
Aneurysm, Intracranial Berry, 12 |
|
Subarachnoid hemorrhage, Internal carotid artery dissection, Arterial fibromuscular dysplasia, Fu... |
OMIM:618734 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
Internal Carotid Absence |
|
Subarachnoid hemorrhage, Dilatation of the cerebral artery, Cerebral ischemia |
ORPHA:981 |
Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Anemia, Neutropenia, Eosinophilia, Thrombocytosis, Monocytosis, Congeni... |
OMIM:202700 |
Severe Primary Trimethylaminuria |
|
Emotional lability, Anxiety, Low self esteem, Aggressive behavior, Negative affectivity, Depression |
ORPHA:468726 |
Factor Vii Deficiency |
|
Prolonged bleeding after dental extraction, Bruising susceptibility, Intramuscular hematoma, Intr... |
OMIM:227500 |
Cerebral Cavernous Malformations |
|
Cerebral cavernous malformation, Intracranial hemorrhage |
OMIM:116860 |
Circumvallate Placenta Syndrome |
|
Polyhydramnios, Intracranial hemorrhage |
OMIM:215550 |
Cardiomyopathy, Dilated, 2G |
|
Right bundle branch block, Mitral regurgitation, Monomorphic ventricular tachycardia, Left atrial... |
OMIM:619897 |
Congenital Factor Ii Deficiency |
|
Prolonged prothrombin time, Prolonged bleeding after dental extraction, Intramuscular hematoma, P... |
ORPHA:325 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Splenomegaly, Anemia |
ORPHA:294 |
Hemophilia A |
|
Joint swelling, Intramuscular hematoma, Intracranial hemorrhage, Joint hemorrhage, Intraventricul... |
ORPHA:98878 |
Cerebral Cavernous Malformations 2 |
|
Telangiectasia, Stroke, Cerebral hemorrhage, Cerebral cavernous malformation |
OMIM:603284 |
Familial Cervical Artery Dissection |
|
Subarachnoid hemorrhage, Stroke, Arterial fibromuscular dysplasia, Carotid artery tortuosity, Hyp... |
ORPHA:36382 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Stroke, Intracranial hemorrhage, Cerebral hemorrhage |
OMIM:105150 |
Congenital Factor V Deficiency |
|
Gingival bleeding, Prolonged bleeding after dental extraction, Hematochezia, Bruising susceptibil... |
ORPHA:326 |
Abetal34V Amyloidosis |
|
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage |
ORPHA:324703 |
Factor X Deficiency |
|
Prolonged prothrombin time, Gingival bleeding, Intramuscular hematoma, Intracranial hemorrhage, J... |
OMIM:227600 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Gingival bleeding, Bruising susceptibility, Intramuscular hematoma, Persistent bleeding after tra... |
ORPHA:79 |
Moderate Hemophilia A |
|
Gingival bleeding, Prolonged bleeding after dental extraction, Epidural hemorrhage, Intramuscular... |
ORPHA:169805 |
Factor Xiii, A Subunit, Deficiency Of |
|
Gingival bleeding, Bruising susceptibility, Persistent bleeding after trauma, Intracranial hemorr... |
OMIM:613225 |
Congenital Factor Xiii Deficiency |
|
Gingival bleeding, Prolonged bleeding after dental extraction, Intramuscular hematoma, Bruising s... |
ORPHA:331 |
Severe Hemophilia A |
|
Epidural hemorrhage, Intramuscular hematoma, Subdural hemorrhage, Bruising susceptibility, Persis... |
ORPHA:169802 |
Congenital Factor X Deficiency |
|
Subarachnoid hemorrhage, Prolonged prothrombin time, Gingival bleeding, Prolonged bleeding after ... |
ORPHA:328 |
Hemophilia B |
|
Prolonged bleeding after dental extraction, Intramuscular hematoma, Intracranial hemorrhage, Join... |
ORPHA:98879 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Pancytopenia, Lymphocytosis, Monocytosis... |
OMIM:614470 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Monocytosis, Refractory anemia, Leukopenia, Acute myeloid leukemia |
OMIM:616871 |
Afibrinogenemia, Congenital |
|
Gingival bleeding, Prolonged bleeding after dental extraction, Epidural hemorrhage, Bruising susc... |
OMIM:202400 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Subarachnoid hemorrhage, Cerebral hemorrhage, Subdural hemorrhage, Ischemic stroke, Vasospasm, Ce... |
ORPHA:284388 |
Cardiomyopathy, Dilated, 1R |
|
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... |
OMIM:613424 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Immune Thrombocytopenia |
|
Gingival bleeding, Bruising susceptibility, Cerebral hemorrhage, Purpura, Gastrointestinal hemorr... |
ORPHA:3002 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Prolonged bleeding after dental extraction, Epidural hemorrhage, Intramuscular hematoma, Persiste... |
ORPHA:465 |
Congenital Factor Vii Deficiency |
|
Prolonged prothrombin time, Gingival bleeding, Bruising susceptibility, Post-partum hemorrhage, I... |
ORPHA:327 |
Glanzmann Thrombasthenia 1 |
|
Gingival bleeding, Bruising susceptibility, Subdural hemorrhage, Intracranial hemorrhage, Excessi... |
OMIM:273800 |
Familial Cerebral Saccular Aneurysm |
|
Subarachnoid hemorrhage, Abnormal circle of Willis morphology, Aortic root aneurysm, Hypertension... |
ORPHA:231160 |
Abeta Amyloidosis, Iowa Type |
|
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage |
ORPHA:324708 |
Familial Afibrinogenemia |
|
Gingival bleeding, Joint swelling, Cerebral hemorrhage, Abnormal bleeding, Epistaxis |
ORPHA:98880 |
Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
Snakebite Envenomation |
|
Rhabdomyolysis, Stroke, Gingival bleeding, Hypotension, Edema, Angioedema, Cardiogenic shock, Int... |
ORPHA:449285 |
Immunodeficiency 14B, Autosomal Recessive |
|
Leukocytosis, B lymphocytopenia, Thrombocytosis, Neutrophilia, Monocytosis |
OMIM:619281 |
Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Left ventricular noncompaction, Syncope, Congestive heart failur... |
OMIM:615396 |
Adult Idiopathic Neutropenia |
|
Lymphopenia, Monocytopenia, Abnormal neutrophil count, Monocytosis, Neutropenia |
ORPHA:2688 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Subarachnoid hemorrhage, Intracranial hemorrhage, Ecchymosis, Cephalohematoma, Purpura, Spontaneo... |
ORPHA:853 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Congestive he... |
OMIM:601493 |
Combined Deficiency Of Factor V And Factor Viii |
|
Prolonged prothrombin time, Gingival bleeding, Prolonged bleeding after dental extraction, Bruisi... |
ORPHA:35909 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Pancytopenia, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Hemoglobin H Disease |
|
HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly |
OMIM:613978 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Pulmonary embolism, Cerebral hemorrhage |
OMIM:614514 |
Trimethylaminuria |
|
Neutropenia, Depression, Splenomegaly, Anemia |
OMIM:602079 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Left ventricular systolic dysfunction, Mitral regurgitati... |
OMIM:615373 |
Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Congestive heart fail... |
OMIM:613642 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Anemia |
ORPHA:46532 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Sneddon Syndrome |
|
Stroke, Cerebral hemorrhage, Ischemic stroke, Hypertension, Facial palsy, Bicuspid aortic valve |
OMIM:182410 |
Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage |
OMIM:614483 |
Cerebral Amyloid Angiopathy, App-Related |
|
Subarachnoid hemorrhage, Stroke, Tortuous cerebral arteries, Recurrent cerebral hemorrhage, Cereb... |
OMIM:605714 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Bicuspid aortic valve, Stroke, Cerebral hemorrhage |
OMIM:300049 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Cardiac arrest, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncomp... |
OMIM:612158 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... |
OMIM:604169 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Arterial stenosis, Hypertension |
ORPHA:820 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Acquired Von Willebrand Syndrome |
|
Prolonged prothrombin time, Mitral regurgitation, Pulmonic stenosis, Hypotension, Bruising suscep... |
ORPHA:99147 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Stroke, Cerebral hemorrhage, Ischemic stroke, Intracranial hemorrhage, Hypertension, Transient is... |
ORPHA:136 |
Fibronectin Glomerulopathy |
|
Hypertension, Pedal edema, Cerebral hemorrhage |
ORPHA:84090 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... |
OMIM:603902 |
Immunodeficiency 16 |
|
Pancytopenia, Splenomegaly, Coombs-positive hemolytic anemia |
OMIM:615593 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Glut1 Deficiency Syndrome 2 |
|
Reticulocytosis, Ataxia, Hemolytic anemia, Choreoathetosis, Irritability, Splenomegaly |
OMIM:612126 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Leukemia, Acute lymphoblastic leukemia, Neutropenia, Lymphopenia, Eosinophilia, ... |
ORPHA:486 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Stroke, Vasculitis, Arteriosclerosis, Arterial fibromuscular dysplasia, ... |
ORPHA:494424 |
Hemoglobin D Disease |
|
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... |
ORPHA:90039 |
Erythroleukemia, Familial, Susceptibility To |
|
Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel... |
OMIM:133180 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cerebral hemorrhage, Ischemic stroke, Hypertension, Moyamoya phenomenon, Coronary artery atherosc... |
ORPHA:280679 |
Acquired Purpura Fulminans |
|
Prolonged prothrombin time, Intracranial hemorrhage, Macular purpura, Shock, Internal hemorrhage |
ORPHA:49566 |
Wyburn-Mason Syndrome |
|
Subarachnoid hemorrhage, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology,... |
ORPHA:53719 |
Fetal Gaucher Disease |
|
Arthrogryposis multiplex congenita, Hydrops fetalis, Intracranial hemorrhage, Neonatal death, Sti... |
ORPHA:85212 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Loss of ambulation, Hepatomegaly, Irritability, Thrombocytopenia, Splenomegaly |
OMIM:615010 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia |
ORPHA:231393 |
Primary Angiitis Of The Central Nervous System |
|
Stroke, Cerebral vasculitis, Intracranial hemorrhage, Transient ischemic attack |
ORPHA:140989 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Erythroid hyperplasia, ... |
OMIM:237800 |
Lethal Congenital Contracture Syndrome 5 |
|
Subdural hemorrhage, Polyhydramnios, Congenital contracture, Centrally nucleated skeletal muscle ... |
OMIM:615368 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Retinal hemorrhage, Hematochezia, Diffuse alveolar hemorrhage, Cerebral hemorrhage, Intracranial ... |
ORPHA:464321 |
Methanol Poisoning |
|
Inflammatory arteriopathy, Cerebral hemorrhage, Intracranial hemorrhage, Hypertension, Permanent ... |
ORPHA:31825 |
Familial Multiple Nevi Flammei |
|
Venous insufficiency, Edema, Arteriovenous malformation, Arrhythmia, Intracranial hemorrhage, Pul... |
ORPHA:624 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Prolonged QTc interval, Cerebral hemorrhage, Left ventricular hypertrophy, Syncope, Ischemic stro... |
ORPHA:90065 |
Immunodeficiency 21 |
|
Myeloid leukemia, Aplastic anemia, Anemia, Reduced natural killer cell count, Lymphopenia, B lymp... |
OMIM:614172 |
Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Vascular dilatation, Hematochezia |
OMIM:277175 |
Dengue Fever |
|
Gingival bleeding, Bruising susceptibility, Hypotension, Cerebral hemorrhage, Gastrointestinal he... |
ORPHA:99828 |
Atrial Standstill |
|
Reduced left ventricular ejection fraction, Cardiomyopathy, Abnormal heart morphology, Sick sinus... |
ORPHA:1344 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Prolonged prothrombin time, Bruising susceptibility, Cerebral hemorrhage, Joint hemorrhage, Ecchy... |
OMIM:277450 |
Dural Sinus Malformation |
|
Subarachnoid hemorrhage, Stroke, Cerebral hemorrhage, Subdural hemorrhage, Cerebellar hemorrhage,... |
ORPHA:97339 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatosplenomegaly, Hemophagocytosis, Thrombocytopenia, Neutrophilia, Monocytosis |
OMIM:619644 |
Ataxia-Pancytopenia Syndrome |
|
Abnormal macrophage morphology, Gait disturbance, Unsteady gait, Ataxia, Abnormality of neutrophi... |
ORPHA:2585 |
Familial Hyperaldosteronism Type Iii |
|
Left ventricular hypertrophy, Hypertension, Intracranial hemorrhage, Epistaxis, Prolonged QT inte... |
ORPHA:251274 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Cardiac arrest, Stroke, Reduced left ventricular ejection fraction, Ventricular hypertrophy, Musc... |
OMIM:115197 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... |
ORPHA:444463 |
Klippel-Trénaunay Syndrome |
|
Peripheral arteriovenous fistula, Venous insufficiency, Edema, Atrial septal defect, Hydrops feta... |
ORPHA:90308 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Stroke, Mucoid extracellular matrix accumulation, Transient ischemic attack, Descending thoracic ... |
ORPHA:91387 |
Polycythemia Vera |
|
Budd-Chiari syndrome, Gastrointestinal hemorrhage, Cerebral ischemia, Cerebral hemorrhage |
OMIM:263300 |
Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly |
ORPHA:882 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Coproporphyria, Hereditary |
|
Jaundice, Anxiety, Hepatomegaly, Depression, Splenomegaly |
OMIM:121300 |
Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Splenomegaly, Reticulocytosis |
OMIM:179700 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Arteriosclerosis, Medial calcification of medium-sized arteries, Cerebral hemorrhage, Medial calc... |
OMIM:177850 |
Immunodeficiency 11 |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
Immunodeficiency 104 |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, T lymphocytopenia |
OMIM:608971 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Hepatomegaly, Microcytic anemia, Lymphadenopathy, Splenomegaly |
OMIM:618852 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Splenomegaly, Fetal ascites |
OMIM:619462 |
Erythrocytosis, Familial, 2 |
|
Stroke, Pulmonary arterial hypertension, Hypotension, Cerebral hemorrhage, Varicose veins |
OMIM:263400 |
Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Hypertension, Cerebral hemorrhage |
OMIM:133100 |
Congenital Fibrinogen Deficiency |
|
Prolonged prothrombin time, Gingival bleeding, Abnormal umbilical stump bleeding, Bruising suscep... |
ORPHA:335 |
Hereditary Hemorrhagic Telangiectasia |
|
Subarachnoid hemorrhage, Peripheral arteriovenous fistula, Pulmonary arterial hypertension, Abnor... |
ORPHA:774 |
Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Cerebral hemorrhage |
ORPHA:542310 |
Tempi Syndrome |
|
Telangiectasia, Intracranial hemorrhage, Transudative pleural effusion, Ascites |
ORPHA:284227 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage |
ORPHA:398189 |
Familial Hyperaldosteronism Type I |
|
Epistaxis, Hypertension, Intracranial hemorrhage |
ORPHA:403 |
Gaucher Disease, Type Iii |
|
Ataxia, Hepatomegaly, Thrombocytopenia, Pancytopenia, Depression, Splenomegaly |
OMIM:231000 |
Pseudo-Torch Syndrome 2 |
|
Secundum atrial septal defect, Cerebral hemorrhage, Petechiae, Patent ductus arteriosus, Bradycar... |
OMIM:617397 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Right aortic arch, Abnormal left ventricle morphology, Cerebral hemorrhage, Hypertension, Prematu... |
OMIM:300845 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia |
ORPHA:228312 |
Cardiomyopathy, Dilated, 1D |
|
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left ventricular noncom... |
OMIM:601494 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal hypertension, Hepatomegaly, Splenomegaly, Portal vein thrombosis |
OMIM:610293 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Subarachnoid hemorrhage, Pulmonary arteriovenous malformation, Lip telangiectasia, Conjunctival t... |
OMIM:610655 |
Mast Cell Sarcoma |
|
Mastocytosis, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis |
OMIM:269600 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Extramedullary hematopoiesis, Enlarged kidney, Anemia, Hepatomegaly, Thrombocytopenia... |
OMIM:615285 |
Familial Hyperaldosteronism Type Ii |
|
Epistaxis, Hypertension, Intracranial hemorrhage |
ORPHA:404 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Hepatomegaly, Splenomegaly, Eosinophilia |
OMIM:607685 |
Isovaleric Acidemia |
|
Dehydration, Cerebellar hemorrhage |
OMIM:243500 |
Autoerythrocyte Sensitization Syndrome |
|
Intramuscular hematoma, Bruising susceptibility, Edema, Intracranial hemorrhage, Joint hemorrhage... |
ORPHA:324636 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Prolonged prothrombin time, Myopathy, EMG: myopathic abnormalities, Cerebral edema, Sudden cardia... |
ORPHA:99901 |
Portal Hypertension, Noncirrhotic, 1 |
|
Portal hypertension, Hepatomegaly, Splenomegaly |
OMIM:617068 |
Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Splenomegaly, Ascites |
OMIM:271500 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic steatosis |
OMIM:614480 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Cerebral hemorrhage, Congestive heart failure, Positive regitine blocking test, Tachycardia, Epis... |
OMIM:171420 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, Ataxia |
ORPHA:98293 |
Alpha-Thalassemia |
|
Jaundice, Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Cholel... |
ORPHA:846 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect, Intracranial hemorrhage, Hypertension... |
ORPHA:369929 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Limb ataxia, Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly, Gait ataxia, Splenomegaly |
OMIM:616719 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Heart block, Muscular dystrophy, Syncope, Supraventricular tachycardia, Sinoatrial block, Sudden ... |
ORPHA:300751 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus, Hepatomegaly, Splenomegaly |
OMIM:616622 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Sinus tachycardia, Palpitations, Hypertension associated with pheochromocyto... |
ORPHA:94080 |
Immunodeficiency 69 |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Splenomegaly |
OMIM:618963 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Reticulocytosis, Anemia of inadequate production, Cholelithiasis, Splenomegaly |
OMIM:224100 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Prolonged bleeding time, Lymphedema, Bruising susceptibility |
ORPHA:3226 |
Sick Sinus Syndrome 2 |
|
Prolonged QTc interval, Cardiac arrest, Paroxysmal atrial fibrillation, Left ventricular hypertro... |
OMIM:163800 |
Stormorken Syndrome |
|
Subarachnoid hemorrhage, Bruising susceptibility, Myopathy, Abnormal bleeding, Epistaxis, Stroke-... |
OMIM:185070 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Arthrogryposis multiplex congenita, Subdural hemorrhage, Polyhydramnios, Skeletal muscle atrophy,... |
OMIM:618291 |
Immunodeficiency 84 |
|
B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Immunodeficiency 48 |
|
Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly |
OMIM:269840 |
Cardiomyopathy, Dilated, 1A |
|
Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... |
OMIM:115200 |
Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Splenomegaly |
ORPHA:79238 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly |
ORPHA:417 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Abnormal T-wave, Palpitations, Hypertension, Intracranial hemorrhage, Epistaxis |
ORPHA:231625 |
Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage |
ORPHA:100008 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Jaundice, Hemophagocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Splenomegaly... |
OMIM:603552 |
Abeta Amyloidosis, Dutch Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:100006 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Long Qt Syndrome 15 |
|
Prolonged QTc interval, Cardiac arrest, Left ventricular noncompaction, Syncope, Ventricular bige... |
OMIM:616249 |
Immunodeficiency 32B |
|
Impaired oxidative burst, Anemia, Eosinophilia, Thrombocytopenia, Monocytopenia, Neutrophilia, Sp... |
OMIM:226990 |
Immunodeficiency 97 With Autoinflammation |
|
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... |
OMIM:619802 |
Immunodeficiency 52 |
|
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Lymphadeno... |
OMIM:617514 |
Immunodeficiency 76 |
|
Lymphopenia, B lymphocytopenia, Lymphadenopathy, Splenomegaly, T lymphocytopenia |
OMIM:619164 |
Propionic Acidemia |
|
Cardiomyopathy, Dehydration, Cerebellar hemorrhage, Limb hypertonia |
OMIM:606054 |
Glycogen Storage Disease Ii |
|
Macroglossia, Subarachnoid hemorrhage, Wolff-Parkinson-White syndrome, Right axis deviation, Sinu... |
OMIM:232300 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Cholestasis, Jaundice, Hepatomegaly, Splenomegaly |
OMIM:620010 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:100024 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anisocytosis, Jaundice, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, E... |
OMIM:615631 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... |
OMIM:615513 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Lip telangiectasia, Venous varicosities of celiac and mesenteric vessels, Nasal mucosa telangiect... |
OMIM:187300 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Hypertension, Cerebral hemorrhage |
OMIM:618886 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Anisocytosis, Jaundice, Anemia, Decreased mean corpuscular volume, Hepatomega... |
OMIM:616860 |
Nephrosialidosis |
|
Pericardial effusion, Ascites, Bone-marrow foam cells |
OMIM:256150 |
Joubert Syndrome 33 |
|
Splenomegaly, Ataxia |
OMIM:617767 |
Spherocytosis, Type 5 |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... |
ORPHA:251380 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Bruising susceptibility, Abnormal lymphatic vessel morphology, Ecchymosis, S... |
ORPHA:464329 |
Hemochromatosis, Type 2A |
|
Lethargy, Hepatomegaly, Splenomegaly, Cirrhosis |
OMIM:602390 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,... |
ORPHA:79301 |
Hemoglobin E Disease |
|
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... |
ORPHA:2133 |
Alpha-Heavy Chain Disease |
|
Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Ascites |
ORPHA:100025 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly |
OMIM:222800 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Jaundice, Ataxia, Pigment gallstones, Spontaneous hemolytic crises, Impaired neutrophil bacterici... |
OMIM:613470 |
Menkes Disease |
|
Intracranial hemorrhage |
OMIM:309400 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia |
ORPHA:231401 |
Follicular Lymphoma |
|
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly |
ORPHA:545 |
Hypophosphatasia, Infantile |
|
Stillbirth, Polyhydramnios, Intracranial hemorrhage |
OMIM:241500 |
Parkes Weber Syndrome |
|
Subarachnoid hemorrhage, Peripheral arteriovenous fistula, High-output congestive heart failure, ... |
ORPHA:90307 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Lip telangiectasia, Facial telangiectasia, Nasal mucosa telangiectasia, Transient ischemic attack... |
OMIM:600376 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cardiomyopathy, Dehydration, Cerebellar hemorrhage |
OMIM:251000 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatosplenomegaly, Hypoplasia of the thymus, Intermittent thrombocytopenia, Leukopenia, Anemia, ... |
OMIM:612541 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic fibrosis, Splenomegaly |
OMIM:619658 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal hypertension, Micronodular cirrhosis, Fi... |
OMIM:619849 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Pulmonic stenosis, Hydrops fetalis, Chylopericardium, Tricuspid ... |
ORPHA:2414 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Arrhythmia, Polyhydramnios, Capillary leak, Abnormal heart morphology,... |
ORPHA:1041 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Increased nuchal translucency, Fetal intraventricular hemorrhage, Oligohydramnios, Limb hypertonia |
OMIM:618480 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Hepatosplenomegaly, Leukopenia, Lymphopenia, Impaired neutrophil chemotaxis, T lymphocytopenia, B... |
OMIM:618986 |
Wilson Disease |
|
Acute hepatitis, Jaundice, Difficulty walking, Anemia, Hepatomegaly, Cirrhosis, Hypersexuality, H... |
ORPHA:905 |
Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Hepatomegaly, Microcytic anemia, Irritability, Hepatitis, Thrombocyt... |
ORPHA:848 |
Hemochromatosis, Type 2B |
|
Anemia, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Splenomegaly |
OMIM:613313 |
Cardiomyopathy, Dilated, 1S |
|
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Ventricular tachycardia, Mitral r... |
OMIM:613426 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Thrombocytopenia, Lymphadenopathy, Splenomegaly |
OMIM:613101 |
1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Moyamoya phenomenon |
ORPHA:401986 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Choreoathetosis, Pancreatitis, Hepatomegaly, Thrombocytopenia, Lethargy, Splenomegaly, Ne... |
ORPHA:79312 |
Niemann-Pick Disease, Type A |
|
Inability to walk, Bone-marrow foam cells, Hepatomegaly, Prolonged neonatal jaundice, Sea-blue hi... |
OMIM:257200 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Stillbirth, Pericardial effusion, Pleural effusion, Ge... |
OMIM:618773 |
Aspergillosis |
|
Stroke, Intracranial hemorrhage, Pleural effusion |
ORPHA:1163 |
Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage |
ORPHA:2481 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Anisocytosis, Reticulocytosis, Anemia, Abnormal erythrocy... |
ORPHA:766 |
Cocaine Intoxication |
|
Rhabdomyolysis, Subarachnoid hemorrhage, Prolonged QRS complex, Diffuse alveolar hemorrhage, Hypo... |
ORPHA:90068 |
Pheochromocytoma |
|
Cerebral hemorrhage, Renal artery stenosis, Congestive heart failure, Positive regitine blocking ... |
OMIM:171300 |
Acquired Idiopathic Sideroblastic Anemia |
|
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ... |
ORPHA:75564 |
Immunodeficiency 64 With Lymphoproliferation |
|
Hepatosplenomegaly, Cervical lymphadenopathy, Autoimmune thrombocytopenia, Increased proportion a... |
OMIM:618534 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Ataxia, Hepatomegaly, Irritability, Cirrhosis, Splenomegaly |
OMIM:613489 |
Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension, Ventricular septal defect |
OMIM:614424 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Aortic atherosclerotic lesion, Mitral regurgitation, Aortic root aneurysm, Intracranial hemorrhag... |
ORPHA:363618 |
Cholestasis-Lymphedema Syndrome |
|
Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis, Splenomegaly |
OMIM:214900 |
Wiskott-Aldrich Syndrome |
|
Vasculitis, Gingival bleeding, Recurrent intrapulmonary hemorrhage, Hematochezia, Bruising suscep... |
ORPHA:906 |
Hellp Syndrome |
|
Prolonged prothrombin time, Hypotension, Cerebral hemorrhage, Pulmonary edema, Internal hemorrhag... |
ORPHA:244242 |
Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Gingival bleeding, Bundle branch block, Bradycardia, Epistaxis, Pulmonary arterial h... |
ORPHA:99827 |
Nephronophthisis 19 |
|
Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Malformation ... |
OMIM:616217 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Jaundice, Hepatic fibrosis, Hepatomegaly, Portal fibrosis, Portal hypertension, Iron deficiency a... |
OMIM:616278 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Jaundice, Anisopoikilocytosis, Reticulocytosis, Hemolytic anemia, Increased mean corpuscular hemo... |
OMIM:616689 |
Craniofaciofrontodigital Syndrome |
|
Stroke, Atrial septal defect, Ventricular septal defect, Persistent fetal circulation, Pulmonary ... |
ORPHA:363705 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Myopathy, Aortic aneurysm, Arteriovenous malformation, Skeletal muscle atrophy, Intracranial hemo... |
ORPHA:109 |
Cryohydrocytosis |
|
Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia |
OMIM:185020 |
Cerebral Visual Impairment |
|
Ischemic stroke, Intracranial hemorrhage |
ORPHA:447788 |
Hemorrhagic Fever-Renal Syndrome |
|
Hypotension, Palpitations, Intracranial hemorrhage, Hypertension, Capillary leak, Internal hemorr... |
ORPHA:340 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Subarachnoid hemorrhage, Cerebral vasculitis |
OMIM:243700 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Splenomegaly, Anemia |
OMIM:617441 |
Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Lymphadenopathy, Thrombocytosis, Enlarge... |
OMIM:209950 |
Amyloidosis, Familial Visceral |
|
Cholestasis, Hepatomegaly, Splenomegaly |
OMIM:105200 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Jaundice, Reticulocytosis, Normocytic anemia, Cholecystitis, Normochromic anemia, Nonspherocytic ... |
OMIM:235700 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Abnormal ly... |
OMIM:612840 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi... |
OMIM:314050 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Oligohydramnios, Hypertrophic cardiomyopathy, Bradycardia, Pleural effusion... |
OMIM:614702 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Anasarca, Cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Hypote... |
OMIM:261740 |
Classic Hodgkin Lymphoma |
|
Ataxia, Bone marrow hypocellularity, Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:391 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... |
OMIM:601859 |
Cholestasis-Lymphedema Syndrome |
|
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,... |
ORPHA:1414 |
Fish-Eye Disease |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Sinus tachycardia, Palpitations, Hypertension associated with pheochromocyto... |
ORPHA:276621 |
Cholesteryl Ester Storage Disease |
|
Jaundice, Hepatomegaly, Splenomegaly, Cirrhosis |
ORPHA:75234 |
Spherocytosis, Type 4 |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly |
OMIM:612653 |
Overhydrated Hereditary Stomatocytosis |
|
Anisocytosis, Intermittent jaundice, Reticulocytosis, Hemolytic anemia, Abnormal mean corpuscular... |
ORPHA:3203 |
Tarp Syndrome |
|
Tetralogy of Fallot, Subdural hemorrhage, Atrial septal defect, Neonatal death, Oligohydramnios |
OMIM:311900 |
Rhabdoid Tumor |
|
Hypertension, Internal hemorrhage |
ORPHA:69077 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Hepatomegaly,... |
OMIM:619375 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content |
OMIM:261750 |
Spherocytosis, Type 1 |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Cholelithiasis, Splenomegaly |
OMIM:182900 |
Mirage Syndrome |
|
Intracranial hemorrhage, Petechiae, Patent ductus arteriosus |
OMIM:617053 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Jaundice, Intrahepatic cholestasis, Portal inflammation, Bile duct proliferation, Hepatomegaly, C... |
OMIM:602347 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Hepatic steatosis |
OMIM:612526 |
Chronic Myeloid Leukemia |
|
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... |
ORPHA:521 |
Spherocytosis, Type 2 |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Acanthocytosis, Spherocytosis, Splenomegaly |
OMIM:616649 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Hepatomegaly, Lymphadenopathy, Mastocytosis, Increased proportion ... |
ORPHA:98848 |
Lymphoproliferative Syndrome 2 |
|
Hepatosplenomegaly, Aplastic anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Pancytopeni... |
OMIM:615122 |
Classic Homocystinuria |
|
Arteriovenous malformation, Intracranial hemorrhage, Hypertension, Pulmonary embolism, Gastrointe... |
ORPHA:394 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatocellular carcinoma, Hepatomegaly, Portal hypertension, Thrombocytopenia, Nodular regenerati... |
OMIM:619463 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Emotional lability, Ataxia, Hepatomegaly, Irritability, Lethargy, Splenomegaly |
OMIM:201100 |
Elliptocytosis 1 |
|
Jaundice, Elliptocytosis, Splenomegaly, Hemolytic anemia |
OMIM:611804 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:158029 |
Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Leukopenia, Abnormal ... |
ORPHA:64743 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Intermittent thrombocytopenia, Neutropenia, Lymphadenopathy, B lymphocytopenia, Splenomegaly, Abn... |
OMIM:150550 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... |
ORPHA:231154 |
Griscelli Syndrome |
|
Jaundice, Leukopenia, Ataxia, Abnormality of neutrophils, Bone marrow hypocellularity, Hepatomega... |
ORPHA:381 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly |
OMIM:618495 |
Naxos Disease |
|
Prolonged QRS complex, Abnormal morphology of right ventricular trabeculae, Right ventricular car... |
OMIM:601214 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Decreased mean corpuscular volume, Hepatomegaly, Hypochromia, Elevated hepatic iron conce... |
OMIM:615234 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Antenatal intracerebral hemorrhage, Arrhythmia, Knee flexion contracture, Dilated cardiomyopathy,... |
OMIM:608836 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced red cell pyruvate kinase level, Jaundice, Reticulocytosis, Hepatomegaly, Decreased hemogl... |
OMIM:266200 |
Osteopetrosis, Autosomal Recessive 8 |
|
Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia |
OMIM:615085 |
Sclerosing Cholangitis, Neonatal |
|
Ductal bile plugs, Jaundice, Cholestasis, Hepatic bridging fibrosis, Bile duct proliferation, Hep... |
OMIM:617394 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Increased nuchal translucency, Edema, Atrial septal defect, Facial ede... |
OMIM:617300 |
Congenital Tricuspid Valve Dysplasia |
|
Systolic heart murmur, Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Rig... |
ORPHA:555874 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
Choanal Atresia And Lymphedema |
|
Lymphedema, Pericardial effusion |
OMIM:613611 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Cerebral hemorrhage |
OMIM:301081 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly |
ORPHA:664 |
Menkes Disease |
|
Venous insufficiency, Aplasia/Hypoplasia of the abdominal wall musculature, Intracranial hemorrha... |
ORPHA:565 |
Inhalational Anthrax |
|
Hypotension, Internal hemorrhage |
ORPHA:247257 |
Idiopathic Hypereosinophilic Syndrome |
|
Raynaud phenomenon, Joint swelling, Angioedema, Skeletal muscle atrophy, Intracranial hemorrhage,... |
ORPHA:3260 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly |
ORPHA:59303 |
Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Neut... |
OMIM:615387 |
Harderoporphyria |
|
Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly |
OMIM:618892 |
Superficial Siderosis |
|
Subarachnoid hemorrhage, Arteriovenous malformation, Lower limb muscle weakness, Persistent bleed... |
ORPHA:247245 |
Griscelli Syndrome Type 2 |
|
Jaundice, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia |
ORPHA:79477 |
Cold Agglutinin Disease |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, Hemolytic anemia |
ORPHA:56425 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Sinus tachycardia, Palpitations, Hypertension associated with pheochromocyto... |
ORPHA:29072 |
Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Anemia |
ORPHA:163596 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Atrial septal defect, Ventricular septal defect, Intracranial hemorrhage, Interrupted aortic arch... |
ORPHA:163979 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatocellular carcinoma, Intermittent jaundice, Intrahepatic cholestasis, Hepatomegaly, Cirrhosi... |
OMIM:601847 |
Nelson Syndrome |
|
Quadriceps muscle atrophy, Lower limb muscle weakness, Intracranial hemorrhage, Hypertension |
ORPHA:199244 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Intraventricular hemorrhage, Abnormal heart morphology |
ORPHA:79284 |
Osteogenesis Imperfecta, Type Xvii |
|
Decreased muscle mass, Intraventricular hemorrhage |
OMIM:616507 |
Primary Myelofibrosis |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Portal hype... |
ORPHA:824 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Dextrocardia, Antenatal intracerebral hemorrhage, Bruising susceptibility, Myopathy, Aortic aneur... |
ORPHA:536545 |
Pulmonary Capillary Hemangiomatosis |
|
Diffuse alveolar hemorrhage, Pedal edema, Elevated pulmonary artery pressure, Pulmonary edema, Pe... |
ORPHA:199241 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Skeletal muscle hypertrophy, Subdural hemorrhage |
OMIM:619714 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... |
OMIM:603909 |
Homozygous Familial Hypercholesterolemia |
|
Aortic atherosclerotic lesion, Abnormal internal carotid artery morphology, Premature coronary ar... |
ORPHA:391665 |
Overhydrated Hereditary Stomatocytosis |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jaundice, Increased... |
OMIM:185000 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Retinal hemorrhage, Subdural hemorrhage |
ORPHA:25 |
Cholesteryl Ester Storage Disease |
|
Hepatosplenomegaly, Leukopenia, Bone-marrow foam cells, Anemia, Hepatic bridging fibrosis, Hepati... |
OMIM:278000 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Prolonged prothrombin time, Intraventricular hemorrhage, Neonatal death |
OMIM:619055 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Stroke, Pulmonary arterial hypertension, Dehydration, Subdural hemorrhage, Hydrops fetalis, Pulmo... |
ORPHA:79282 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Throm... |
OMIM:613011 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Jaundice, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Exocrine pancreatic insuff... |
OMIM:612714 |
Mcleod Syndrome |
|
Anxiety, Hepatomegaly, Acanthocytosis, Depression, Personality disorder, Splenomegaly |
OMIM:300842 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage |
OMIM:616430 |
Autoimmune Hepatitis |
|
Hepatocellular carcinoma, Acute hepatitis, Jaundice, Diffuse hepatic steatosis, Viral hepatitis, ... |
ORPHA:2137 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Intracranial hemorrhage, Hypertension |
ORPHA:90795 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hemophagocytosis, Bone marrow hypocellularity, Autoimmune hemolytic anemia, Hepatomegaly, Thrombo... |
OMIM:301078 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Generalized lymphadenopathy, Absent tonsils, Hepatomegaly, Lymphopenia, Aplasia of the thymus, Eo... |
OMIM:602450 |
Hutchinson-Gilford Progeria Syndrome |
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Stroke, Mitral stenosis, Abnormal mitral valve morphology, Intracranial hemorrhage, Ventricular h... |
ORPHA:740 |
Anemia, Congenital Dyserythropoietic, Type Ia |
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Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jau... |
OMIM:224120 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
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Jaundice, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Cirrhosis, Cholelithiasi... |
OMIM:211600 |
Cockayne Syndrome Type 3 |
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Stroke, Vascular calcification, Aortic root aneurysm, Subdural hemorrhage, Cardiomyopathy, Skelet... |
ORPHA:90324 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Hepatosplenomegaly, Jaundice, Leukopenia, Hemophagocytosis, Anemia, Ataxia, Hepatomegaly, Irritab... |
OMIM:603553 |
Gamma-Heavy Chain Disease |
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Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology,... |
ORPHA:100026 |
Glycogen Storage Disease Ixc |
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Bile duct proliferation, Hepatomegaly, Cirrhosis, Splenomegaly, Increased hepatic glycogen content |
OMIM:613027 |
Bile Acid Synthesis Defect, Congenital, 2 |
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Jaundice, Hepatomegaly, Splenomegaly, Intrahepatic cholestasis |
OMIM:235555 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Hepatosplenomegaly, Recurrent tonsillitis, Hemolytic anemia, Impaired oxidative burst, Lymphadeni... |
OMIM:618935 |
Myelofibrosis |
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Myeloproliferative disorder, Splenomegaly |
OMIM:254450 |
Sickle Cell Disease |
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Jaundice, Leukocytosis, Target cells, Hemolytic anemia, Splenic infarction, Hepatomegaly, Choleli... |
OMIM:603903 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cirrhosis, Giant cell hepatitis, Splenomegaly, ... |
OMIM:607765 |
Niemann-Pick Disease, Type C1 |
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Ataxia, Bone-marrow foam cells, Hepatomegaly, Prolonged neonatal jaundice, Sea-blue histiocytosis... |
OMIM:257220 |
Beta-Thalassemia Intermedia |
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Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Leukocytosis, Increased HbA2 hemoglobin, ... |
ORPHA:231222 |
Hydranencephaly |
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Antenatal intracerebral hemorrhage, Abnormal cerebral artery morphology, Dilatation of the ventri... |
ORPHA:2177 |
Dehydrated Hereditary Stomatocytosis |
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Increased hemoglobin concentration, Reticulocytosis, Polycythemia, Hemolytic anemia, Increased me... |
ORPHA:3202 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Fava bean-induced hemolytic anemia, Anisocytosis, Jaundice, Heinz bodies, Leukocytosis, Reticuloc... |
OMIM:300908 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Hemolytic anemia, Anemia, Reduced hematocrit, ... |
OMIM:613673 |
Bile Acid Synthesis Defect, Congenital, 3 |
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Ductal bile plugs, Jaundice, Intrahepatic cholestasis, Hepatic bridging fibrosis, Bile duct proli... |
OMIM:613812 |
Hereditary Spherocytosis |
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Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Extramedullary he... |
ORPHA:822 |
Medulloblastoma |
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Cerebellar hemorrhage |
ORPHA:616 |
Arachnoid Cyst |
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Lower limb muscle weakness, Facial palsy, Subarachnoid hemorrhage |
ORPHA:2356 |
Loeys-Dietz Syndrome 3 |
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Atrial septal defect, Arterial tortuosity, Ventricular hypertrophy, Tortuous cerebral arteries, M... |
OMIM:613795 |
Budd-Chiari Syndrome |
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Peritonitis, Jaundice, Hepatomegaly, Cirrhosis, Portal hypertension, Cholecystitis, Splenomegaly,... |
ORPHA:131 |
Omenn Syndrome |
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Hypoplasia of the thymus, Anemia, Severe B lymphocytopenia, Hepatomegaly, Eosinophilia, Thrombocy... |
OMIM:603554 |
Dpagt1-Cdg |
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Camptodactyly, Anasarca, Intracranial hemorrhage, Flexion contracture, Prolonged QT interval, Str... |
ORPHA:86309 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
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Intracranial hemorrhage |
ORPHA:91350 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
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Polyhydramnios, Intraventricular hemorrhage |
OMIM:613603 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
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Lymphadenopathy, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly |
OMIM:619183 |
Acute Panmyelosis With Myelofibrosis |
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Bone marrow hypocellularity, Lymphocytosis, Pancytopenia, Acute myelomonocytic leukemia, Splenome... |
ORPHA:86843 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
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Leukocytosis, Splenomegaly |
OMIM:618042 |
Acute Liver Failure |
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Prolonged prothrombin time, Hypotension, Bruising susceptibility, Intracranial hemorrhage, Cerebr... |
ORPHA:90062 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
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Pancytopenia, Splenomegaly, Hemophagocytosis, Anemia |
OMIM:618398 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
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Biliary cirrhosis, Asplenia, Enlarged kidney, Cholestasis, Bile duct proliferation, Hepatic fibro... |
OMIM:208540 |
Hereditary Elliptocytosis |
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Jaundice, Elliptocytosis, Reticulocytosis, Hemolytic anemia, Abnormal erythrocyte morphology, Cho... |
ORPHA:288 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Jaundice, Gait disturbance, Polycythemia, Difficulty walking, Abnormality of the liver, Hepatomeg... |
ORPHA:309854 |
Viss Syndrome |
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Ventricular septal defect, Atrial septal defect, Left aortic arch with retroesophageal right subc... |
OMIM:619472 |
Caroli Disease |
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Cholangitis, Jaundice, Leukocytosis, Liver abscess, Intrahepatic cholestasis, Cholestasis, Hepati... |
ORPHA:53035 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Cerebral hemorrhage, Patent ductus arteriosus, Ventricular septal defect |
OMIM:616682 |
Familial Cerebral Cavernous Malformation |
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Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
Meningioma |
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Cerebral hemorrhage, Lower limb muscle weakness, Syncope, Upper limb muscle weakness, Facial palsy |
ORPHA:2495 |
Acute Transverse Myelitis |
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Subarachnoid hemorrhage, Distal lower limb muscle weakness, Hypertension, Upper limb muscle weakn... |
ORPHA:139417 |
Apolipoprotein C-Ii Deficiency |
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Pancreatitis, Hepatomegaly, Splenomegaly |
OMIM:207750 |
Riddle Syndrome |
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Telangiectasia, Intraventricular hemorrhage, Conjunctival telangiectasia |
ORPHA:420741 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Aortic aneurysm, Cardiomyopat... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Aortic aneurysm, Cardiomyopat... |
ORPHA:363958 |
Osteogenesis Imperfecta |
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Aortic root aneurysm, Bruising susceptibility, Aortic aneurysm, Cerebral hemorrhage, Arterial dis... |
ORPHA:666 |
Heart Block, Congenital |
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Mitral regurgitation, Cardiomyopathy, Atrioventricular block, Myocardial fibrosis, Absent atriove... |
OMIM:234700 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Cerebral hemorrhage, Ischemic stroke, Retinal arteriolar tortuosity, Dilation of Virchow-Robin sp... |
OMIM:175780 |
Cardiac-Urogenital Syndrome |
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Dysplastic tricuspid valve, Mesocardia, Dextrocardia, Hypoplastic left heart, Tachycardia, Atrial... |
OMIM:618280 |
Hyperlipoproteinemia, Type I |
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Hepatosplenomegaly, Pancreatitis, Jaundice, Splenomegaly |
OMIM:238600 |
Marburg Hemorrhagic Fever |
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Prolonged prothrombin time, Dehydration, Hypotension, Bruising susceptibility, Internal hemorrhag... |
ORPHA:99826 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Liver abscess, Granulomatosis, Impaired oxidative burst, Lymphadenitis, Hepatomegaly, Lymphadenop... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Liver abscess, Granulomatosis, Impaired oxidative burst, Lymphadenitis, Hepatomegaly, Lymphadenop... |
OMIM:233710 |
Parenteral Nutrition-Associated Cholestasis |
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Jaundice, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Portal hypertension, Hepatic steatosis, Bili... |
ORPHA:567983 |
Generalized Arterial Calcification Of Infancy |
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Stroke, Ventricular hypertrophy, Transient ischemic attack, Pulmonary arterial hypertension, Coro... |
ORPHA:51608 |
Hepatocellular Carcinoma |
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Venous insufficiency, Hypotension, Anasarca, Pedal edema, Portal hypertension, Internal hemorrhag... |
ORPHA:88673 |
X-Linked Lymphoproliferative Disease |
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Hemophagocytosis, Fulminant hepatitis, Histiocytosis, B lymphocytopenia, Hepatic necrosis, Hepato... |
ORPHA:2442 |
Yellow Fever |
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Prolonged prothrombin time, Reduced left ventricular ejection fraction, Internal hemorrhage, Capi... |
ORPHA:99829 |
Hyperlipoproteinemia, Type Id |
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Pancreatitis, Hepatomegaly, Recurrent pancreatitis, Splenomegaly |
OMIM:615947 |
Witteveen-Kolk Syndrome |
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Polyhydramnios, Contracture of the distal interphalangeal joint of the 4th finger, Intracranial h... |
OMIM:613406 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
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Neoplasm of the liver, Ataxia, Autoimmune thrombocytopenia, Bipolar affective disorder, Hepatomeg... |
ORPHA:77293 |
Tuberous Sclerosis Complex |
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Aortic aneurysm, Cardiac rhabdomyoma, Hypertension, Pulmonary lymphangiomyomatosis, Internal hemo... |
ORPHA:805 |
Pmm2-Cdg |
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Anasarca, Intracranial hemorrhage, Angina pectoris, Pericardial effusion, Lymphedema, Hypertrophi... |
ORPHA:79318 |
Vascular Ehlers-Danlos Syndrome |
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Transient ischemic attack, Abnormal bleeding, Mitral valve prolapse, Aplasia/Hypoplasia of the ab... |
ORPHA:286 |