| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
| Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
| Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
| Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
| X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Internal Carotid Absence |
|
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage |
ORPHA:981 |
| Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
| Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
| Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
| Afibrinogenemia, Congenital |
|
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleed... |
OMIM:202400 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
| Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage, Subcortical heterotopia, Polymicrogyria, Growth delay |
OMIM:614483 |
| Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
| Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Cerebral cavernous malformation |
OMIM:116860 |
| Familial Cervical Artery Dissection |
|
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral... |
ORPHA:36382 |
| Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
| Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
| Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
| Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
| Abetal34V Amyloidosis |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324703 |
| Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
| Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
| Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... |
ORPHA:284388 |
| Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
| Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
| Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
| Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... |
OMIM:273800 |
| Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
| Factor Xiii, A Subunit, Deficiency Of |
|
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... |
OMIM:613225 |
| Familial Afibrinogenemia |
|
Abnormal bleeding, Miscarriage, Epistaxis, Cerebral hemorrhage, Gingival bleeding |
ORPHA:98880 |
| Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
| Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
| Moderate Hemophilia A |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... |
ORPHA:169805 |
| Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... |
ORPHA:3002 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Factor Vii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... |
OMIM:227500 |
| Periventricular Nodular Heterotopia 1 |
|
Cerebral hemorrhage, Patent ductus arteriosus, Abnormality of neuronal migration, Gray matter het... |
OMIM:300049 |
| Abeta Amyloidosis, Iowa Type |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324708 |
| Congenital Factor Xiii Deficiency |
|
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Post-partum h... |
ORPHA:331 |
| Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Miscarriage, Epistaxis, Joint hemorrhage, Prolo... |
ORPHA:465 |
| Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... |
ORPHA:169802 |
| Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... |
ORPHA:136 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr... |
ORPHA:853 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... |
ORPHA:79 |
| Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... |
ORPHA:98878 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Atelectasis, Lissencephaly, Bronchiectasis |
OMIM:619466 |
| Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Short stature, Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Delaye... |
ORPHA:280679 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
| Dural Sinus Malformation |
|
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Subdural hemorrh... |
ORPHA:97339 |
| Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension, Arterial stenosis |
ORPHA:820 |
| Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
| Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Intracranial... |
ORPHA:449285 |
| Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
| Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
| Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... |
OMIM:605714 |
| Primary Angiitis Of The Central Nervous System |
|
Intracranial hemorrhage, Stroke, Transient ischemic attack, Cerebral vasculitis |
ORPHA:140989 |
| Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:253240 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Fetal Gaucher Disease |
|
Neonatal death, Death in infancy, Stillbirth, Intracranial hemorrhage |
ORPHA:85212 |
| Wyburn-Mason Syndrome |
|
Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo... |
ORPHA:53719 |
| Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... |
ORPHA:99147 |
| Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
| Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
| Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
| Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
| Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Death in infancy, Meningocele, Abnormality of neuronal migration |
ORPHA:2481 |
| Menkes Disease |
|
Intracranial hemorrhage, Intrauterine growth retardation, Short stature, Death in childhood |
OMIM:309400 |
| Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
| Sneddon Syndrome |
|
Hypertension, Stroke, Ischemic stroke, Cerebral hemorrhage |
OMIM:182410 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... |
ORPHA:91387 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:615872 |
| Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Patent ductus arteriosus, Gray matter heterotopia, Bradycardia, Pleural effu... |
OMIM:617397 |
| Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... |
ORPHA:494424 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Short stature, Cerebral hemorrhage, Postnatal growth retardation, Dilated cardiomyopathy, Stroke-... |
OMIM:300845 |
| Aspergillosis |
|
Pneumonia, Hypersensitivity pneumonitis, Bronchiectasis, Intracranial hemorrhage, Stroke, Pulmona... |
ORPHA:1163 |
| Hypophosphatasia, Infantile |
|
Recurrent respiratory infections, Death in infancy, Intracranial hemorrhage, Stillbirth, Dispropo... |
OMIM:241500 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... |
OMIM:616726 |
| Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... |
ORPHA:774 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Recurrent sinopulmonary infections, Subarachnoid hemorrhage, Recurrent pneum... |
OMIM:243700 |
| Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... |
ORPHA:464321 |
| Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... |
ORPHA:624 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona... |
OMIM:610655 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Recurrent bronchitis |
OMIM:300455 |
| Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage |
ORPHA:49566 |
| Tempi Syndrome |
|
Intracranial hemorrhage, Transudative pleural effusion, Abnormality of the pulmonary vasculature,... |
ORPHA:284227 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Death in infancy, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral re... |
OMIM:620300 |
| Meconium Aspiration Syndrome |
|
Atelectasis, Pneumothorax, Abnormal heart rate variability, Aspiration pneumonia, Pulmonary arter... |
ORPHA:70588 |
| Ciliary Dyskinesia, Primary, 21 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis |
OMIM:615294 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... |
OMIM:277450 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Cerebral hemorrhage |
ORPHA:542310 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Hypotension, Brui... |
ORPHA:99828 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Recurrent respiratory infections, Prolonged bleeding time, Bruising susc... |
ORPHA:3226 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
| Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema, Short stature, Cerebral berry aneurysm, Portal hypertension |
OMIM:210050 |
| Vascular Hyalinosis |
|
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage |
OMIM:277175 |
| Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension |
OMIM:263400 |
| Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:94080 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage |
OMIM:263300 |
| Bronchopulmonary Dysplasia |
|
Right ventricular failure, Atelectasis, Abnormal lung morphology, Pulmonary sequestration, Emphysema |
ORPHA:70589 |
| Abeta Amyloidosis, Dutch Type |
|
Death in early adulthood, Stroke, Cerebral hemorrhage |
ORPHA:100006 |
| Acys Amyloidosis |
|
Death in early adulthood, Stroke, Cerebral hemorrhage |
ORPHA:100008 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage |
ORPHA:398189 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Bradycardia, Hy... |
ORPHA:70587 |
| Mirage Syndrome |
|
Short stature, Patent ductus arteriosus, Intracranial hemorrhage, Aspiration pneumonia, Intrauter... |
OMIM:617053 |
| Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:403 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Spina bifida occulta, Subdural hemorrhage, Perisylvian polymicrogyria |
OMIM:618291 |
| Lethal Congenital Contracture Syndrome 5 |
|
Death in infancy, Subdural hemorrhage, Retinal hemorrhage |
OMIM:615368 |
| Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... |
OMIM:177850 |
| Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:404 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Death in infancy, Intraventricular hemorrhage, Death in adolescence, Prolonged prothrombin time, ... |
OMIM:619055 |
| Erythrocytosis, Familial, 1 |
|
Hypertension, Cerebral hemorrhage, Myocardial infarction |
OMIM:133100 |
| C1Q Deficiency 2 |
|
Atelectasis, Recurrent lower respiratory tract infections, Vasculitis in the skin, Bronchiectasis |
OMIM:620321 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
| Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage |
ORPHA:251274 |
| Joubert Syndrome 14 |
|
Encephalocele, Meningocele, Intracranial hemorrhage, Hypertension, Growth delay |
OMIM:614424 |
| Stormorken Syndrome |
|
Abnormal bleeding, Short stature, Epistaxis, Subarachnoid hemorrhage, Stroke-like episode, Bruisi... |
OMIM:185070 |
| Propionic Acidemia |
|
Cardiomyopathy, Cerebellar hemorrhage, Short stature |
OMIM:606054 |
| Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Oral cavity bleeding, Menorrhagi... |
ORPHA:324636 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
| Isovaleric Acidemia |
|
Cerebellar hemorrhage |
OMIM:243500 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic ath... |
ORPHA:363618 |
| Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelectasis, Bron... |
ORPHA:79126 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary... |
ORPHA:369929 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Death in infancy, Cerebral hemorrhage, Subdural hemorrhage, Chylothorax, Death in childhood |
OMIM:620278 |
| Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Abnormal lung morphology, Abnormal lymphatic v... |
ORPHA:464329 |
| Asbestos Intoxication |
|
Right ventricular failure, Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morph... |
ORPHA:2302 |
| Pseudo-Torch Syndrome 3 |
|
Death in infancy, Hypertension, Cerebral hemorrhage |
OMIM:618886 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave |
ORPHA:231625 |
| Parkes Weber Syndrome |
|
Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac... |
ORPHA:90307 |
| Tarp Syndrome |
|
Neonatal death, Intrauterine growth retardation, Tetralogy of Fallot, Subdural hemorrhage |
OMIM:311900 |
| Wiskott-Aldrich Syndrome |
|
Recurrent respiratory infections, Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, E... |
ORPHA:906 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Right bundle branch block, Pulmonary fibrosis |
ORPHA:254361 |
| Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Pneumonia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, M... |
ORPHA:340 |
| Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
| Sarcoidosis, Susceptibility To, 2 |
|
Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pleural effusion, Pulmo... |
OMIM:612387 |
| Respiratory Distress Syndrome In Premature Infants |
|
Atelectasis, Pulmonary edema |
OMIM:267450 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr... |
ORPHA:99901 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Peribronchovascular interstitial thickening, Pulmonary situs ... |
ORPHA:244 |
| Recurrent Respiratory Papillomatosis |
|
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... |
ORPHA:60032 |
| Cerebral Visual Impairment |
|
Intracranial hemorrhage, Ischemic stroke |
ORPHA:447788 |
| Familial Nasal Acilia |
|
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis |
ORPHA:922 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Death in infancy, Dilated cardiomyopathy, Abnormality of neuronal migration, Arrhythmia, Polymicr... |
OMIM:608836 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Angina pectoris, Short stature, Telangiectasia, Intracranial hemorrhage, Arteriovenous malformati... |
ORPHA:109 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Sp... |
ORPHA:565 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cardiomyopathy, Cerebellar hemorrhage |
OMIM:251000 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Short stature, Pneumonia, Bronchitis, Intraventricular hemorrhage, R... |
ORPHA:420741 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:276621 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Short stature, Aspiration pneumonia |
OMIM:616430 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Neonatal death, Atelectasis, Death in infancy |
OMIM:300219 |
| 1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Moyamoya phenomenon |
ORPHA:401986 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Hemoper... |
ORPHA:99827 |
| Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Bronchogenic cyst |
ORPHA:2357 |
| Hellp Syndrome |
|
Cerebral hemorrhage, Prolonged prothrombin time, Hypotension, Pleural effusion, Internal hemorrha... |
ORPHA:244242 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Recurrent respiratory infections, Right axis deviation, Subarachn... |
OMIM:232300 |
| Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Fetal intraventricular hemorrhage, Short stature |
OMIM:618480 |
| Pheochromocytoma |
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Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... |
OMIM:171300 |
| Classic Homocystinuria |
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Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ... |
ORPHA:394 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia |
ORPHA:3348 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
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Growth delay, Intraventricular hemorrhage, Intrauterine growth retardation |
ORPHA:79284 |
| Bare Lymphocyte Syndrome, Type I |
|
Bronchiolitis, Emphysema, Bronchiectasis, Recurrent bronchitis |
OMIM:604571 |
| Idiopathic Hypereosinophilic Syndrome |
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Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Raynaud phenomenon, C... |
ORPHA:3260 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Atelectasis, Elevated bronchoalveolar lavage fluid neutrophil p... |
OMIM:610978 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Growth delay, Stroke, Pulmonary ... |
ORPHA:79282 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
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Intracranial hemorrhage, Hypertension, Short stature |
ORPHA:90795 |
| Hereditary Pheochromocytoma-Paraganglioma |
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Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:29072 |
| Hydranencephaly |
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Abnormal internal carotid artery morphology, Postnatal growth retardation, Dilatation of the vent... |
ORPHA:2177 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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Short stature, Patent ductus arteriosus, Heart murmur, Intracranial hemorrhage, Interrupted aorti... |
ORPHA:163979 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
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Short stature, Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, Umbilical hernia, Brui... |
ORPHA:536545 |
| Superficial Siderosis |
|
Abnormal bleeding, Subarachnoid hemorrhage, Abnormal vertebral artery morphology, Arteriovenous m... |
ORPHA:247245 |
| Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Intrauterine growth retardation, Subdural hemorrhage, Short stature |
OMIM:619714 |
| Medulloblastoma |
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Neoplasm of the lung, Cerebellar hemorrhage |
ORPHA:616 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in infancy, Vascular dilatation, Atelectasis, Recurrent pneumonia, Growth delay, Pulmonary ... |
OMIM:613177 |
| Idiopathic Chronic Eosinophilic Pneumonia |
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Atelectasis, Pleural effusion, Hypersensitivity pneumonitis |
ORPHA:2902 |
| Glutaryl-Coa Dehydrogenase Deficiency |
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Subdural hemorrhage, Retinal hemorrhage |
ORPHA:25 |
| Cockayne Syndrome Type 3 |
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Mild postnatal growth retardation, Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Aorti... |
ORPHA:90324 |
| Acute Liver Failure |
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Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Hepatic necrosis, Hepatocellular necrosis,... |
ORPHA:90062 |
| Autoinflammatory Disease, Systemic, X-Linked |
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Cerebral hemorrhage |
OMIM:301081 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
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Tricuspid regurgitation, Atelectasis, Abnormal pulmonary interstitial morphology, Bronchiectasis,... |
OMIM:620233 |
| Short-Rib Thoracic Dysplasia 12 |
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Atelectasis, Patent ductus arteriosus, Anencephaly, Pulmonary hypoplasia, Neonatal death, Intraut... |
OMIM:269860 |
| Hutchinson-Gilford Progeria Syndrome |
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Aortic regurgitation, Mitral stenosis, Angina pectoris, Left ventricular systolic dysfunction, My... |
ORPHA:740 |
| Waardenburg Syndrome Type 3 |
|
Atelectasis |
ORPHA:896 |
| Farber Disease |
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CNS foam cells, Short stature, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper re... |
ORPHA:333 |
| Osteogenesis Imperfecta |
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Aortic regurgitation, Short stature, Rhizomelia, Cerebral hemorrhage, Growth delay, Aortic root a... |
ORPHA:666 |
| Loeys-Dietz Syndrome 3 |
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Tortuous cerebral arteries, Atrial fibrillation, Thoracic aortic aneurysm, Subarachnoid hemorrhag... |
OMIM:613795 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Atelectasis, Cardiomyopathy, Reduced left ventricular ejection fraction, Lissencephaly, Arrhythmi... |
ORPHA:258 |
| Lujo Hemorrhagic Fever |
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Shock, Excessive bleeding after a venipuncture, Atelectasis, Myocarditis, Subconjunctival hemorrh... |
ORPHA:319213 |
| Autosomal Dominant Hyper-Ige Syndrome |
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Atelectasis, Recurrent respiratory infections, Vascular dilatation |
ORPHA:2314 |
| Arachnoid Cyst |
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Encephalocele, Subarachnoid hemorrhage |
ORPHA:2356 |
| Ciliary Dyskinesia, Primary, 1 |
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Pneumonia, Atelectasis, Bronchiectasis, Recurrent bronchitis |
OMIM:244400 |
| Ciliary Dyskinesia, Primary, 20 |
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Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br... |
OMIM:615067 |
| Dpagt1-Cdg |
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Intracranial hemorrhage, Prolonged QT interval, Pulmonary hypoplasia, Stroke-like episode |
ORPHA:86309 |
| Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage, Short stature |
OMIM:616507 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
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Recurrent respiratory infections, Vascular tortuosity, Ascending tubular aorta aneurysm, Umbilica... |
OMIM:219100 |
| Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Emphysema, Short stature, Arterial tortuosity, P... |
OMIM:619472 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Transient ischemic attack, Thoracic aortic aneurysm, Respiratory tract infection, Atelectasis, Ab... |
ORPHA:365 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Thoracic aortic aneurysm, Repeated pneumothoraces, Postnatal growth retardation, Atelectasis, Asc... |
ORPHA:536467 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Intraventricular hemorrhage |
OMIM:613603 |
| Zygomycosis |
|
Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Hematemesis, Atelectasis, Myocarditis, Pneu... |
ORPHA:73263 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
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Recurrent respiratory infections, Spina bifida, Postnatal growth retardation, Intraventricular he... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
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Recurrent respiratory infections, Spina bifida, Postnatal growth retardation, Intraventricular he... |
ORPHA:363958 |
| Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Atelectasis, Pneumothorax, Chyloth... |
ORPHA:538 |
| Nelson Syndrome |
|
Intracranial hemorrhage, Hypertension |
ORPHA:199244 |
| Whim Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract infections... |
ORPHA:51636 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage |
ORPHA:91350 |
| 22Q11.2 Deletion Syndrome |
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Gastrointestinal hemorrhage, Short stature, Spina bifida, Retinal arteriolar tortuosity, Atelecta... |
ORPHA:567 |
| Witteveen-Kolk Syndrome |
|
Branchial fistula, Short stature, Intracranial hemorrhage, Growth delay, Bilateral polymicrogyria... |
OMIM:613406 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Atelectasis, Hepatocellular necrosis, Pulmonary fibrosis, Death... |
OMIM:618278 |
| Meningioma |
|
Syncope, Cerebral hemorrhage |
ORPHA:2495 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Patent ductus arteriosus, Cerebral hemorrhage |
OMIM:616682 |
| Acute Transverse Myelitis |
|
Hypertension, Orthostatic hypotension, Subarachnoid hemorrhage |
ORPHA:139417 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Retinal hem... |
OMIM:175780 |
| Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
| Relapsing Polychondritis |
|
Pericarditis, Atelectasis, Myocarditis, Large vessel vasculitis, Vascular dilatation, Purpura |
ORPHA:728 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Recurrent respiratory infections, Death in infancy, Short stature, Atelectasis, Delayed puberty, ... |
ORPHA:534 |
| Digeorge Syndrome |
|
Short stature, Atelectasis, Patent ductus arteriosus, Recurrent pneumonia, Recurrent sinusitis, I... |
OMIM:188400 |
| Granulomatous Disease, Chronic, X-Linked |
|
Atelectasis, Pleural effusion, Recurrent pneumonia |
OMIM:306400 |
| Chand Syndrome |
|
Atelectasis |
ORPHA:1401 |
| Pmm2-Cdg |
|
Pericarditis, Angina pectoris, Intracranial hemorrhage, Aspiration pneumonia, Hypertrophic cardio... |
ORPHA:79318 |
