| Cardiomyopathy, Dilated, 1R |
|
Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Cardiomyocyte hyper... |
OMIM:613424 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
| Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Cerebral berry aneurysm, Arterial fi... |
OMIM:618734 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... |
OMIM:612158 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... |
OMIM:601493 |
| Cardiomyopathy, Dilated, 2G |
|
Left atrial enlargement, Aortic regurgitation, Paroxysmal ventricular tachycardia, Myocardial sar... |
OMIM:619897 |
| Left Ventricular Noncompaction 1 |
|
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri... |
OMIM:604169 |
| Left Ventricular Noncompaction 10 |
|
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... |
OMIM:615396 |
| Internal Carotid Absence |
|
Subarachnoid hemorrhage, Cerebral ischemia, Dilatation of the cerebral artery |
ORPHA:981 |
| Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... |
OMIM:613642 |
| Left Ventricular Noncompaction 8 |
|
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... |
OMIM:615373 |
| Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
| Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
| Familial Cervical Artery Dissection |
|
Stroke, Hypertension, Transient ischemic attack, Cerebral ischemia, Facial palsy, Recurrent cereb... |
ORPHA:36382 |
| Congenital Factor Ii Deficiency |
|
Prolonged prothrombin time, Abnormal bleeding, Cephalohematoma, Anemia, Excessive bleeding from s... |
ORPHA:325 |
| Cerebral Cavernous Malformations |
|
Cerebral cavernous malformation, Intracranial hemorrhage |
OMIM:116860 |
| Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Cephalohematoma, Anemia, Epidural hemorrhage, Intramuscular hematoma... |
ORPHA:169802 |
| Cerebral Amyloid Angiopathy, Cst3-Related |
|
Stroke, Cerebral hemorrhage, Intracranial hemorrhage |
OMIM:105150 |
| Atrial Standstill |
|
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... |
ORPHA:1344 |
| Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Purpura, Excessive bleeding from superficial cuts, Abnormal platelet... |
OMIM:273800 |
| Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
| Factor Vii Deficiency |
|
Abnormal bleeding, Intramuscular hematoma, Menorrhagia, Joint hemorrhage, Epistaxis, Intracranial... |
OMIM:227500 |
| Congenital Factor V Deficiency |
|
Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleeding, Pr... |
ORPHA:326 |
| Hemophilia A |
|
Spontaneous hematomas, Gastrointestinal hemorrhage, Intramuscular hematoma, Splenic rupture, Join... |
ORPHA:98878 |
| Abetal34V Amyloidosis |
|
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology |
ORPHA:324703 |
| Congenital Factor Xiii Deficiency |
|
Spontaneous hematomas, Post-partum hemorrhage, Intramuscular hematoma, Oral cavity bleeding, Ging... |
ORPHA:331 |
| Moderate Hemophilia A |
|
Spontaneous hematomas, Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Intra... |
ORPHA:169805 |
| Reversible Cerebral Vasoconstriction Syndrome |
|
Ischemic stroke, Abnormal bleeding, Dilatation of the cerebral artery, Transient ischemic attack,... |
ORPHA:284388 |
| Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
| Immune Thrombocytopenia |
|
Purpura, Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Thrombocytopenia, Epistaxis, ... |
ORPHA:3002 |
| Afibrinogenemia, Congenital |
|
Hematemesis, Abnormal bleeding, Epidural hemorrhage, Gingival bleeding, Prolonged bleeding follow... |
OMIM:202400 |
| Familial Cerebral Saccular Aneurysm |
|
Aortic root aneurysm, Hypertension, Transient ischemic attack, Aortic dissection, Subarachnoid he... |
ORPHA:231160 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Pulmonary embolism, Anemia, Cerebral hemorrhage |
OMIM:614514 |
| Factor Xiii, A Subunit, Deficiency Of |
|
Spontaneous hematomas, Abnormal bleeding, Gingival bleeding, Abnormal umbilical stump bleeding, J... |
OMIM:613225 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Post-partum hemorrhage, Intramuscular hematoma,... |
ORPHA:465 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Spontaneous hematomas, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Melena, Cephalohe... |
ORPHA:853 |
| Acquired Von Willebrand Syndrome |
|
Prolonged prothrombin time, Normocytic anemia, Gastrointestinal hemorrhage, Aortic regurgitation,... |
ORPHA:99147 |
| Factor X Deficiency |
|
Prolonged prothrombin time, Intramuscular hematoma, Gingival bleeding, Menorrhagia, Joint hemorrh... |
OMIM:227600 |
| Sneddon Syndrome |
|
Ischemic stroke, Stroke, Hypertension, Facial palsy, Cerebral hemorrhage, Lymphopenia, Bicuspid a... |
OMIM:182410 |
| Snakebite Envenomation |
|
Abnormal bleeding, Stroke, Gingival bleeding, Cerebral ischemia, Hypotension, Muscle fiber necros... |
ORPHA:449285 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Intramuscular hematoma, Gingival bleeding, Abnormal umbilical stump bleeding, ... |
ORPHA:79 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Reduced left ventricular ejection fraction, Tricuspid regurgitation, Hypert... |
OMIM:616501 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Cerebral ischemia, Budd... |
OMIM:263300 |
| Abeta Amyloidosis, Iowa Type |
|
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology |
ORPHA:324708 |
| Periventricular Nodular Heterotopia 1 |
|
Bicuspid aortic valve, Stroke, Cerebral hemorrhage, Patent ductus arteriosus |
OMIM:300049 |
| Hemophilia B |
|
Cephalohematoma, Intramuscular hematoma, Spontaneous, recurrent epistaxis, Delayed onset bleeding... |
ORPHA:98879 |
| Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
| Cardiomyopathy, Dilated, 1D |
|
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... |
OMIM:601494 |
| Congenital Factor Vii Deficiency |
|
Prolonged prothrombin time, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleedin... |
ORPHA:327 |
| Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
| Congenital Factor X Deficiency |
|
Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemor... |
ORPHA:328 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Ischemic stroke, Stroke, Hypertension, Transient ischemic attack, Cerebral ischemia, Cerebral hem... |
ORPHA:136 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Hypertrophic card... |
OMIM:617228 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Hypertrophic cardiomyopathy, Fl... |
OMIM:252011 |
| Sick Sinus Syndrome 2 |
|
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... |
OMIM:163800 |
| Fetal Gaucher Disease |
|
Stillbirth, Pancytopenia, Neonatal death, Thrombocytopenia, Abnormality of the spleen, Splenomega... |
ORPHA:85212 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Prolonged bleeding fo... |
ORPHA:35909 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Moyamoya phenomenon, Ischemic stroke, Coronary artery atherosclerosis, Hypertension, Cerebral hem... |
ORPHA:280679 |
| Sneddon Syndrome |
|
Hypertension, Intracranial hemorrhage, Arterial stenosis |
ORPHA:820 |
| Combined Oxidative Phosphorylation Deficiency 20 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy |
OMIM:615917 |
| Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage |
OMIM:614483 |
| Cardiomyopathy, Dilated, 1S |
|
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... |
OMIM:613426 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hematemesis, Abnormal vascular morphology, Gastrointestinal hemorrhage, Muscle hemorrhage, Melena... |
ORPHA:464321 |
| Long Qt Syndrome 15 |
|
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... |
OMIM:616249 |
| Dural Sinus Malformation |
|
Cerebellar hemorrhage, Vascular dilatation, Abnormal facial vein morphology, Arteriovenous fistul... |
ORPHA:97339 |
| Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Increased red blood cell mass, Hypertension, Increased circulating hemoglo... |
OMIM:133100 |
| Cerebral Amyloid Angiopathy, App-Related |
|
Cerebellar hemorrhage, Stroke, Tortuous cerebral arteries, Cerebral ischemia, Recurrent cerebral ... |
OMIM:605714 |
| Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Stroke, Hypotension, Pulmonary arterial hypertension, Increased ci... |
OMIM:263400 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Descending thoracic aorta aneurysm, Hypertension, Descending aortic dissection, Peripheral arteri... |
ORPHA:91387 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Leukocytosis, Ce... |
ORPHA:90065 |
| Familial Afibrinogenemia |
|
Cerebral hemorrhage, Abnormal bleeding, Gingival bleeding, Epistaxis |
ORPHA:98880 |
| Primary Angiitis Of The Central Nervous System |
|
Stroke, Transient ischemic attack, Cerebral vasculitis, Intracranial hemorrhage |
ORPHA:140989 |
| Wyburn-Mason Syndrome |
|
Arteriovenous malformation, Vascular dilatation, Peripheral arteriovenous fistula, Gingival bleed... |
ORPHA:53719 |
| Methanol Poisoning |
|
Hypertension, Permanent atrial fibrillation, Inflammatory arteriopathy, Cerebral hemorrhage, Intr... |
ORPHA:31825 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Moyamoya phenomenon, Abnormal left ventricle morphology, Premature coronary artery atherosclerosi... |
OMIM:300845 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Thrombocyto... |
ORPHA:3226 |
| Acquired Purpura Fulminans |
|
Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thrombocytopenia, Intracranial ... |
ORPHA:49566 |
| Naxos Disease |
|
Congestive heart failure, Right ventricular cardiomyopathy, Cardiomegaly, Paroxysmal ventricular ... |
OMIM:601214 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Hypotension, Thrombocytopenia, Leukope... |
ORPHA:99828 |
| Stormorken Syndrome |
|
Abnormal bleeding, Anemia, Howell-Jolly bodies, Asplenia, Stroke-like episode, Hypoplastic spleen... |
OMIM:185070 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Hypotension, Tricuspid regurgitation, Neonatal death, Cerebral hemorrhage, Left ventricular dilat... |
OMIM:620300 |
| Extracranial Carotid Artery Aneurysm |
|
Arteriosclerosis, Arteritis, Vasculitis, Stroke, Hypertension, Cerebral ischemia, Total anomalous... |
ORPHA:494424 |
| Propionic Acidemia |
|
Cerebellar hemorrhage, Anemia, Limb hypertonia, Pancytopenia, Cardiomyopathy, Thrombocytopenia, N... |
OMIM:606054 |
| Pseudo-Torch Syndrome 3 |
|
Anemia, Hypertension, Leukocytosis, Cerebral hemorrhage, Cardiomegaly, Congenital thrombocytopenia |
OMIM:618886 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Prolonged prothrombin time, Congestive heart failure, Cerebellar hemorrhage, EMG: myopathic abnor... |
ORPHA:99901 |
| Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Intramuscular hematoma, Oral cavity bleeding, Menorrhagia, Joint hem... |
ORPHA:324636 |
| Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage, Left ventricular hypertr... |
ORPHA:251274 |
| Pseudo-Torch Syndrome 2 |
|
Bradycardia, Petechiae, Secundum atrial septal defect, Thrombocytopenia, Cerebral hemorrhage, Pat... |
OMIM:617397 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Premature occlusive vascular stenosis, Arteriosclerosis, Angina pect... |
OMIM:177850 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypertension, Ventricular hypertrophy, Pulmonary arterial hypertension, Epistaxis, Intracranial h... |
ORPHA:369929 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Left ventricular systolic dysfunction, Patent foramen ovale, Tricuspid regurgitation, Neonatal de... |
OMIM:619167 |
| Isovaleric Acidemia |
|
Cerebellar hemorrhage, Thrombocytopenia, Leukopenia, Pancytopenia |
OMIM:243500 |
| Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
| Familial Multiple Nevi Flammei |
|
Arteriovenous malformation, Venous insufficiency, Intracranial hemorrhage, Arrhythmia, Pulmonary ... |
ORPHA:624 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Abnormal mast cell morphology |
ORPHA:398189 |
| Wiskott-Aldrich Syndrome |
|
Hematemesis, Spontaneous hematomas, Abnormal platelet morphology, Epistaxis, Hematochezia, Lympho... |
ORPHA:906 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Prolonged prothrombin time, Abnormal bleeding, Joint hemorrhage, Epistaxis, Cerebral hemorrhage, ... |
OMIM:277450 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Cerebral hemorrhage |
ORPHA:542310 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Tongue telangiectasia, Ischemic stroke, Spinal arteriovenous malformation, Right-to-left shunt, L... |
OMIM:610655 |
| Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Vascular dilatation, Hematochezia |
OMIM:277175 |
| Tempi Syndrome |
|
Polycythemia, Intracranial hemorrhage, Increased hematocrit, Telangiectasia |
ORPHA:284227 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Dilatat... |
OMIM:187300 |
| Lethal Congenital Contracture Syndrome 5 |
|
Retinal hemorrhage, Congenital contracture, Centrally nucleated skeletal muscle fibers, Flexion c... |
OMIM:615368 |
| Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Anemia, Abnormal spleen morphology, Abnormal lymphatic ve... |
ORPHA:464329 |
| Non-Functioning Paraganglioma |
|
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... |
ORPHA:94080 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Cardiomyopathy, Thrombocytopenia, Leukopenia, Neutropenia |
OMIM:251000 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Spina bifida occulta, Arthrogryposis multiplex congenita, Flexion contracture, Skeletal muscle at... |
OMIM:618291 |
| Mirage Syndrome |
|
Anemia, Patent ductus arteriosus, Petechiae, Hypoplastic spleen, Leukopenia, Thrombocytopenia, In... |
OMIM:617053 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Na... |
OMIM:600376 |
| Hypophosphatasia, Infantile |
|
Stillbirth, Anemia, Intracranial hemorrhage |
OMIM:241500 |
| Familial Hyperaldosteronism Type Ii |
|
Hypertension, Epistaxis, Intracranial hemorrhage |
ORPHA:404 |
| Familial Hyperaldosteronism Type I |
|
Hypertension, Epistaxis, Intracranial hemorrhage |
ORPHA:403 |
| Aspergillosis |
|
Eosinophilia, Stroke, Intracranial hemorrhage, Neutropenia |
ORPHA:1163 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Abnormality of skeletal muscle fiber size, Nemaline bodies, Joint contracture, Cerebral hemorrhag... |
OMIM:620278 |
| Joubert Syndrome 14 |
|
Encephalocele, Meningocele, Hypertension, Intracranial hemorrhage, Ventricular septal defect |
OMIM:614424 |
| Parkes Weber Syndrome |
|
Abnormal bleeding, Spinal arteriovenous malformation, Arteriovenous malformation, Venous malforma... |
ORPHA:90307 |
| Hereditary Hemorrhagic Telangiectasia |
|
Tongue telangiectasia, Spontaneous hematomas, Gastrointestinal hemorrhage, Arteriovenous malforma... |
ORPHA:774 |
| Glycogen Storage Disease Ii |
|
Increased muscle glycogen content, Wolff-Parkinson-White syndrome, Right axis deviation, Firm mus... |
OMIM:232300 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ... |
OMIM:171420 |
| Idiopathic Hypereosinophilic Syndrome |
|
Pulmonary embolism, Congestive heart failure, Anemia, Myocardial eosinophilic infiltration, Supra... |
ORPHA:3260 |
| Crimean-Congo Hemorrhagic Fever |
|
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Leukopenia, Splenomegaly, Epistaxi... |
ORPHA:99827 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Congestive heart failure, Coronary artery atherosclerosis, Aortic root aneurysm, Hypertension, Ve... |
ORPHA:363618 |
| Menkes Disease |
|
Intracranial hemorrhage |
OMIM:309400 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypertension, Epistaxis, Intracranial hemorrhage, Palpitations, Abnormal T-wave |
ORPHA:231625 |
| Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Meningocele |
ORPHA:2481 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Intraventricular hemorrhage, Megaloblastic anemia, Abnormal heart morphology, Neutropenia |
ORPHA:79284 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hematemesis, Anemia, Melena, Petechiae, Capillary leak, Hypertension, Leukocytosis, Hypotension, ... |
ORPHA:340 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Anemia, Patent ductus arteriosus, Interrupted aortic arch, Thrombocytopenia, Intracranial hemorrh... |
ORPHA:163979 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Retinal arterial tortuosity, Cardiomegaly, Splenic cyst, Hydranencephaly, Limb hypertonia, Patent... |
OMIM:620371 |
| Tarp Syndrome |
|
Atrial septal defect, Neonatal death, Tetralogy of Fallot, Subdural hemorrhage |
OMIM:311900 |
| Hellp Syndrome |
|
Prolonged prothrombin time, Decreased mean corpuscular hemoglobin concentration, Hypotension, Int... |
ORPHA:244242 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Arteriovenous malformation, Aortic aneurysm, Angina pectoris, Skeletal muscle atrophy, Intracrani... |
ORPHA:109 |
| Cerebral Visual Impairment |
|
Ischemic stroke, Intracranial hemorrhage |
ORPHA:447788 |
| Cocaine Intoxication |
|
Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Hypotension, H... |
ORPHA:90068 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
B lymphocytopenia, Hepatosplenomegaly, Cerebral hemorrhage, Neutropenia |
OMIM:301081 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Antenatal intracerebral hemorrhage, Knee flexion contracture, Elbow flexion contracture, Arrhythm... |
OMIM:608836 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Megaloblastic anemia, Stroke, Pulmonary arterial hypertension, Abnormal heart morphology, Thrombo... |
ORPHA:79282 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... |
ORPHA:276621 |
| 1P31P32 Microdeletion Syndrome |
|
Moyamoya phenomenon, Intraventricular hemorrhage |
ORPHA:401986 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Myopathy, Dextrocardia, Aortic aneurysm, Cerebral hemorrhage, Skeletal muscle atrophy, Umbilical ... |
ORPHA:536545 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Decreased proportion of CD4-positive helper T cells, Subarachnoid hemorrhage, Eosinophilia, Reduc... |
OMIM:243700 |
| Abeta Amyloidosis, Dutch Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:100006 |
| Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage |
ORPHA:100008 |
| Menkes Disease |
|
Abnormal carotid artery morphology, Spontaneous hematomas, Gastrointestinal hemorrhage, Vascular ... |
ORPHA:565 |
| Pheochromocytoma |
|
Congestive heart failure, Episodic hypertension, Renal artery stenosis, Cerebral hemorrhage, Posi... |
OMIM:171300 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Pulmonary embolism, Gastrointestinal hemorrhage, Arteriovenous malformation, Hypertension, Cerebr... |
ORPHA:394 |
| Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Fetal intraventricular hemorrhage, Limb hypertonia |
OMIM:618480 |
| Cockayne Syndrome Type 3 |
|
Increased blood pressure, Premature coronary artery atherosclerosis, Aortic root aneurysm, Stroke... |
ORPHA:90324 |
| Hutchinson-Gilford Progeria Syndrome |
|
Hypertension, Ventricular hypertrophy, Aortic valve stenosis, Abnormal mitral valve morphology, A... |
ORPHA:740 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb... |
ORPHA:29072 |
| Loeys-Dietz Syndrome 3 |
|
Arterial tortuosity, Ventricular hypertrophy, Tortuous cerebral arteries, Aortic tortuosity, Pulm... |
OMIM:613795 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R... |
OMIM:300967 |
| Viss Syndrome |
|
Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Tortuous cerebral arteries... |
OMIM:619472 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Subdural hemorrhage, Retinal hemorrhage |
ORPHA:25 |
| Superficial Siderosis |
|
Abnormal bleeding, Arteriovenous malformation, Abnormal vertebral artery morphology, Internal hem... |
ORPHA:247245 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Prolonged prothrombin time, Intraventricular hemorrhage, Neonatal death |
OMIM:619055 |
| Dpagt1-Cdg |
|
Anemia, Prolonged QT interval, Camptodactyly, Stroke-like episode, Flexion contracture, Intracran... |
ORPHA:86309 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hypertension, Intracranial hemorrhage |
ORPHA:90795 |
| Hydranencephaly |
|
Abnormal internal carotid artery morphology, Antenatal intracerebral hemorrhage, Dilatation of th... |
ORPHA:2177 |
| Arachnoid Cyst |
|
Facial palsy, Subarachnoid hemorrhage, Encephalocele, Lower limb muscle weakness |
ORPHA:2356 |
| Nelson Syndrome |
|
Hypertension, Quadriceps muscle atrophy, Intracranial hemorrhage, Lower limb muscle weakness |
ORPHA:199244 |
| Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Aortic regurgitation, Aortic aneurysm, Aortic root aneurysm, Art... |
ORPHA:666 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Aortic aneurysm, Cardiomyopathy, Spina bifida, Pulmonic stenosis, Abnormal heart morphology, Hand... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Aortic aneurysm, Cardiomyopathy, Spina bifida, Pulmonic stenosis, Abnormal heart morphology, Hand... |
ORPHA:363958 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage |
OMIM:616430 |
| Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage, Decreased muscle mass |
OMIM:616507 |
| Medulloblastoma |
|
Cerebellar hemorrhage |
ORPHA:616 |
| Acute Liver Failure |
|
Prolonged prothrombin time, Gastrointestinal hemorrhage, Abnormal bleeding, Hypotension, Thromboc... |
ORPHA:90062 |
| Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Skeletal muscle hypertrophy, Subdural hemorrhage |
OMIM:619714 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Cerebral hemorrhage, Patent ductus arteriosus |
OMIM:616682 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Intraventricular hemorrhage |
OMIM:613603 |
| Meningioma |
|
Facial palsy, Upper limb muscle weakness, Cerebral hemorrhage, Syncope, Lower limb muscle weakness |
ORPHA:2495 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage |
ORPHA:91350 |
| Homozygous Familial Hypercholesterolemia |
|
Calcification of the aorta, Hypertension, Precocious atherosclerosis, Peripheral arterial stenosi... |
ORPHA:391665 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Ischemic stroke, Corneal neovascularization, Dilation of Virchow-Robin spaces, Retinal hemorrhage... |
OMIM:175780 |
| Acute Transverse Myelitis |
|
Distal lower limb muscle weakness, Orthostatic hypotension, Hypertension, Upper limb muscle weakn... |
ORPHA:139417 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Intraventricular hemorrhage, Telangiectasia |
ORPHA:420741 |
| Witteveen-Kolk Syndrome |
|
Congenital diaphragmatic hernia, Contracture of the distal interphalangeal joint of the 4th finge... |
OMIM:613406 |
| Familial Cerebral Cavernous Malformation |
|
Cerebral hemorrhage, Venous malformation |
ORPHA:221061 |
| Pmm2-Cdg |
|
Angina pectoris, Hypertrophic cardiomyopathy, Pericarditis, Pericardial effusion, Intracranial he... |
ORPHA:79318 |
| Venous Malformations, Multiple Cutaneous And Mucosal |
|
Venous malformation, Intestinal bleeding |
OMIM:600195 |
| Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Arteriovenous malformation, Microcytic anemia, Intestinal bleeding |
ORPHA:1059 |
| Congenital Glaucoma |
|
|
ORPHA:98976 |
| Glaucoma 3, Primary Congenital, E |
|
|
OMIM:617272 |
