Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
Aneurysm, Intracranial Berry, 12 |
|
Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar... |
OMIM:618734 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Localized skin lesion, Atypical scarring of skin, Keloids, Erythematous papule, Hyperkeratotic pa... |
ORPHA:79410 |
Familial Cervical Artery Dissection |
|
Dilatation of the cerebral artery, Striae distensae, Transient ischemic attack, Cerebral ischemia... |
ORPHA:36382 |
Erythema Elevatum Diutinum |
|
Skin nodule, Skin vesicle, Vasculitis in the skin |
ORPHA:90000 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Pemphigoid Gestationis |
|
Skin vesicle, Intrauterine growth retardation |
ORPHA:63275 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia |
ORPHA:981 |
Afibrinogenemia, Congenital |
|
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... |
OMIM:202400 |
Cerebral Cavernous Malformations 2 |
|
Telangiectasia, Cerebral cavernous malformation, Stroke, Cerebral hemorrhage |
OMIM:603284 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy |
OMIM:601382 |
Aneurysm, Intracranial Berry, 1 |
|
Dilatation of the cerebral artery, Intracranial hemorrhage |
OMIM:105800 |
Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
Dowling-Degos Disease |
|
Palmar pits, Hyperkeratotic papule, Erythematous papule, Epidermoid cyst, Hyperpigmented papule, ... |
ORPHA:79145 |
Darier Disease |
|
Plantar pits, Acrokeratosis, Skin vesicle, Macule, Hypermelanotic macule |
ORPHA:218 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Erythematous papule, Urticarial plaque, Striae distensae, Erythematous plaque, Skin vesicle, Palm... |
ORPHA:64745 |
Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... |
OMIM:616648 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo... |
OMIM:619897 |
Cerebral Cavernous Malformations |
|
Cerebral cavernous malformation, Intracranial hemorrhage |
OMIM:116860 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Intrauterine growth retardation, Redundant skin, Congestive heart failure |
OMIM:301021 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Stroke, Intracranial hemorrhage, Cerebral hemorrhage |
OMIM:105150 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis |
ORPHA:1074 |
Factor Xiii, A Subunit, Deficiency Of |
|
Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ... |
OMIM:613225 |
Glanzmann Thrombasthenia 1 |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... |
OMIM:273800 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Death in infancy, Hydrocephalus, Cleft palate |
OMIM:258320 |
Abetal34V Amyloidosis |
|
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage |
ORPHA:324703 |
Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
Congenital Factor V Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo... |
ORPHA:326 |
Pemphigus Foliaceus |
|
Erythema, Skin erosion, Erythematous plaque, Skin vesicle, Scaling skin, Serpiginous cutaneous le... |
ORPHA:79481 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Aplasia/Hypoplasia of the skin, Dermal atrophy, Papule, Skin vesicle |
ORPHA:257 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebral artery, Transient i... |
ORPHA:284388 |
Familial Multiple Nevi Flammei |
|
Arteriovenous malformation, Pulmonary embolism, Skin ulcer, Hypermelanotic macule, Nevus flammeus... |
ORPHA:624 |
Hennekam-Beemer Syndrome |
|
Erythema, Hypotension, Skin vesicle, Arrhythmia, Telangiectasia of the skin, Macule, Short statur... |
ORPHA:2135 |
Immune Thrombocytopenia |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep... |
ORPHA:3002 |
Familial Cerebral Saccular Aneurysm |
|
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... |
ORPHA:231160 |
Familial Benign Chronic Pemphigus |
|
Erythema, Skin erosion, Skin vesicle |
ORPHA:2841 |
Wells Syndrome |
|
Skin vesicle |
ORPHA:901 |
Pyoderma Gangrenosum |
|
Atrophic scars, Papule, Skin vesicle, Skin ulcer |
ORPHA:48104 |
Snakebite Envenomation |
|
Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Erythema, Locali... |
ORPHA:449285 |
Congenital Laryngomalacia |
|
Non-midline cleft of the upper lip, Cleft palate |
ORPHA:2373 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Skin vesicle, Erythema migrans |
ORPHA:158681 |
Congenital Factor Xiii Deficiency |
|
Gingival bleeding, Epistaxis, Delayed onset bleeding, Prolonged bleeding following circumcision, ... |
ORPHA:331 |
Familial Afibrinogenemia |
|
Gingival bleeding, Epistaxis, Abnormal bleeding, Cerebral hemorrhage, Miscarriage |
ORPHA:98880 |
Congenital Factor Ii Deficiency |
|
Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ... |
ORPHA:325 |
Dermatitis Herpetiformis |
|
Erythema, Skin vesicle, Macule |
ORPHA:1656 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Petechiae, Ecchymosis, Sub... |
ORPHA:853 |
Acquired Purpura Fulminans |
|
Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Macule, Pyoderma gangren... |
ORPHA:49566 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Moderate Hemophilia A |
|
Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo... |
ORPHA:169805 |
Porphyria Variegata |
|
Localized skin lesion, Skin erosion, Milia, Skin vesicle, Tachycardia, Hypertension |
ORPHA:79473 |
Factor Vii Deficiency |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction... |
OMIM:227500 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Pulmonary embolism, Cerebral hemorrhage |
OMIM:614514 |
Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage, Growth delay |
OMIM:614483 |
Abeta Amyloidosis, Iowa Type |
|
Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage |
ORPHA:324708 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Skin vesicle, Abnormal EKG |
OMIM:613102 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
Lichen Planus Pemphigoides |
|
Skin vesicle |
ORPHA:254478 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Dural Sinus Malformation |
|
Myelopathy, Abnormal facial vein morphology, Subdural hemorrhage, Stroke, Subarachnoid hemorrhage... |
ORPHA:97339 |
Severe Hemophilia A |
|
Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor... |
ORPHA:169802 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Arterial stenosis, Ischemic stroke, Cerebral ischemia, Stroke, Cerebra... |
ORPHA:136 |
Congenital Factor Vii Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... |
ORPHA:327 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Iga Pemphigus |
|
Skin plaque, Skin vesicle, Skin erosion, Annular cutaneous lesion |
ORPHA:555905 |
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Skin vesicle, Papule, Skin ulcer, Vascular dilatation |
ORPHA:2314 |
Cleft Palate, Isolated |
|
Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Nevus, Hydrocephalus |
ORPHA:398189 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Epidural hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extr... |
ORPHA:465 |
Neurocutaneous Melanocytosis |
|
Melanocytic nevus, Intracranial hemorrhage, Death in infancy, Numerous congenital melanocytic nev... |
ORPHA:2481 |
Sweet Syndrome |
|
Dilated cardiomyopathy, Erythematous papule, Erythematous plaque, Skin vesicle, Pyoderma gangreno... |
ORPHA:3243 |
Sneddon Syndrome |
|
Atrophic scars, Ischemic stroke, Stroke, Cerebral hemorrhage, Hypertension |
OMIM:182410 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem... |
ORPHA:98878 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy, Moyamoya phenomenon, Ischemic stroke, Coronary artery atherosclerosis, De... |
ORPHA:280679 |
Menkes Disease |
|
Intrauterine growth retardation, Death in childhood, Cutis laxa, Short stature, Intracranial hemo... |
OMIM:309400 |
Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... |
ORPHA:35909 |
Dyskeratosis Congenita |
|
Hypopigmented skin patches, Skin ulcer, Intrauterine growth retardation, Skin vesicle, Aplasia/Hy... |
ORPHA:1775 |
Sneddon Syndrome |
|
Arterial stenosis, Hypertension, Intracranial hemorrhage |
ORPHA:820 |
Factor X Deficiency |
|
Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge... |
OMIM:227600 |
Anencephaly 2 |
|
Median cleft upper lip, Cleft maxillary alveolar ridge, Median cleft palate, Anencephaly |
OMIM:619452 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag... |
ORPHA:79 |
Hemophilia B |
|
Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist... |
ORPHA:98879 |
Congenital Factor X Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... |
ORPHA:328 |
Fetal Gaucher Disease |
|
Intracranial hemorrhage, Stillbirth, Death in infancy, Neonatal death |
ORPHA:85212 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Methanol Poisoning |
|
Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemor... |
ORPHA:31825 |
Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorrhage, Recurrent cerebra... |
OMIM:605714 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Pulmonary hemorrhage, Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, High-output c... |
OMIM:187300 |
Primary Angiitis Of The Central Nervous System |
|
Stroke, Transient ischemic attack, Intracranial hemorrhage, Cerebral vasculitis |
ORPHA:140989 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ectopic anus, Spina bifida, Anencephaly, Non-midline cleft of the upper lip, Cleft palate |
ORPHA:2476 |
Parkes Weber Syndrome |
|
Arteriovenous malformation, Myelopathy, Vascular tortuosity, Abnormal bleeding, Skin ulcer, Capil... |
ORPHA:90307 |
Acquired Von Willebrand Syndrome |
|
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,... |
ORPHA:99147 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Arteriovenous fistulas of celiac and mesenteric vessels, Right-to-left shunt, Tongue telangiectas... |
OMIM:610655 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment |
OMIM:617519 |
Acute Generalized Exanthematous Pustulosis |
|
Skin vesicle, Purpura, Scaling skin |
ORPHA:293173 |
Wyburn-Mason Syndrome |
|
Gingival bleeding, Epistaxis, Arteriovenous malformation, Abnormal cerebral vascular morphology, ... |
ORPHA:53719 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... |
OMIM:600501 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Facial telangiectasia, Cerebral art... |
OMIM:600376 |
Van Der Woude Syndrome 1 |
|
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate |
OMIM:119300 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Abnormal vascular... |
ORPHA:464321 |
Non-Functioning Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... |
ORPHA:94080 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Death in infa... |
OMIM:620300 |
Hypophosphatasia, Infantile |
|
Disproportionate short-limb short stature, Skin dimple over apex of long bone angulation, Death i... |
OMIM:241500 |
Tempi Syndrome |
|
Telangiectasia, Intracranial hemorrhage, Facial erythema |
ORPHA:284227 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, Abnormal cerebral artery... |
ORPHA:90065 |
Diprosopus |
|
Anencephaly, Non-midline cleft of the upper lip, Cleft palate |
ORPHA:1681 |
Diaphragmatic Hernia 5, X-Linked |
|
Neonatal death |
OMIM:306950 |
Fryns Microphthalmia Syndrome |
|
Tessier cleft, Bilateral cleft lip, Neural tube defect, Bilateral cleft palate |
OMIM:600776 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce... |
OMIM:277450 |
Periventricular Nodular Heterotopia 1 |
|
Stroke, Patent ductus arteriosus, Cerebral hemorrhage |
OMIM:300049 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Moyamoya phenomenon, Postnatal... |
OMIM:300845 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... |
OMIM:601455 |
Leukocyte Adhesion Deficiency Type Ii |
|
Short stature, Skin vesicle, Intrauterine growth retardation, Umbilical hernia |
ORPHA:99843 |
Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
Dengue Fever |
|
Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Bruising susceptibility, ... |
ORPHA:99828 |
Joubert Syndrome 15 |
|
Exencephaly |
OMIM:614464 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Medial calcification of medi... |
OMIM:177850 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr... |
OMIM:171420 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Bruising susceptibility, Pallor, Prolonged bleeding time |
ORPHA:3226 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... |
ORPHA:1215 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... |
OMIM:601596 |
Herpes Simplex Virus Stromal Keratitis |
|
Herpetiform vesicles |
ORPHA:137599 |
Hereditary Hemorrhagic Telangiectasia |
|
Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Retinal telangiectasia, ... |
ORPHA:774 |
Cleft Lip/Palate |
|
Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg-shaped maxillary lateral i... |
ORPHA:199306 |
Chikungunya |
|
Gingival bleeding, Epistaxis, Erythema, Abnormal bleeding, Petechiae, Skin vesicle, Raynaud pheno... |
ORPHA:324625 |
Schisis Association |
|
Unilateral cleft lip, Encephalocele, Tracheoesophageal fistula, Spina bifida, Anal atresia, Anenc... |
ORPHA:63862 |
Extracranial Carotid Artery Aneurysm |
|
Vasculitis, Total anomalous pulmonary venous return, Arteritis, Atherosclerosis, Cerebral ischemi... |
ORPHA:494424 |
Joubert Syndrome 14 |
|
Encephalocele, Hypertension, Hydrocephalus, Meningocele, Intracranial hemorrhage, Growth delay |
OMIM:614424 |
Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Cerebral hemorrhage |
ORPHA:542310 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic root aneurysm, Abdominal aortic aneurysm, Carotid artery dilatation, Patent ductus arterio... |
ORPHA:91387 |
Vascular Hyalinosis |
|
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage |
OMIM:277175 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Atrophic gastritis, Stomach cancer, Cleft palate, Cleft upper lip |
OMIM:137215 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Spina bifida occulta, Subdural hemorrhage, Sacral dimple |
OMIM:618291 |
Erythrocytosis, Familial, 2 |
|
Hypotension, Varicose veins, Stroke, Pulmonary arterial hypertension, Cerebral hemorrhage |
OMIM:263400 |
Autoerythrocyte Sensitization Syndrome |
|
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Erythematous plaque, Intracrania... |
ORPHA:324636 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials |
OMIM:617523 |
Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of somatosensory evoked p... |
ORPHA:52368 |
Polycythemia Vera |
|
Budd-Chiari syndrome, Gastrointestinal hemorrhage, Cerebral ischemia, Cerebral hemorrhage |
OMIM:263300 |
Van Der Woude Syndrome 2 |
|
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate |
OMIM:606713 |
Erythrocytosis, Familial, 1 |
|
Hypertension, Myocardial infarction, Cerebral hemorrhage |
OMIM:133100 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Arteriovenous malformation, Nevus, Subcutaneous hemorrhage, Telangiectasia, Angina pectoris, Aort... |
ORPHA:109 |
Aspergillosis |
|
Stroke, Localized skin lesion, Intracranial hemorrhage |
ORPHA:1163 |
Familial Hyperaldosteronism Type Ii |
|
Epistaxis, Intracranial hemorrhage, Hypertension |
ORPHA:404 |
Familial Hyperaldosteronism Type I |
|
Epistaxis, Intracranial hemorrhage, Hypertension |
ORPHA:403 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intrauterine growth retardation, Death in childhood, Death in infancy, Neonatal death, Death in a... |
OMIM:619055 |
Mirage Syndrome |
|
Intrauterine growth retardation, Petechiae, Hydrocephalus, Short stature, Intracranial hemorrhage... |
OMIM:617053 |
Leukodystrophy, Hypomyelinating, 5 |
|
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... |
OMIM:610532 |
Lethal Congenital Contracture Syndrome 5 |
|
Retinal hemorrhage, Subdural hemorrhage, Death in infancy |
OMIM:615368 |
Abeta Amyloidosis, Dutch Type |
|
Stroke, Death in early adulthood, Cerebral hemorrhage |
ORPHA:100006 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... |
ORPHA:888 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension |
ORPHA:251274 |
Acys Amyloidosis |
|
Stroke, Death in early adulthood, Cerebral hemorrhage |
ORPHA:100008 |
Propionic Acidemia |
|
Short stature, Cerebellar hemorrhage, Cardiomyopathy |
OMIM:606054 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Bifid uvula, Ankyloglossia, Cleft palate |
OMIM:303400 |
Wiskott-Aldrich Syndrome |
|
Gingival bleeding, Vasculitis, Hematochezia, Epistaxis, Bruising susceptibility, Spontaneous hema... |
ORPHA:906 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Atypical scarring of skin, Spontaneous hematomas, Umbilical hernia, ... |
ORPHA:565 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Second degree atrioventricular block, Pulmonary arterial hypertension, Intracranial he... |
ORPHA:369929 |
Pheochromocytoma |
|
Congestive heart failure, Positive regitine blocking test, Renal artery stenosis, Episodic hypert... |
OMIM:171300 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Petechiae, Patent ductus arteriosus, Bradycardia |
OMIM:617397 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... |
ORPHA:276621 |
Stormorken Syndrome |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Stroke-like episode, Subarachnoid hemorrha... |
OMIM:185070 |
Isovaleric Acidemia |
|
Cerebellar hemorrhage |
OMIM:243500 |
Tarp Syndrome |
|
Tetralogy of Fallot, Intrauterine growth retardation, Subdural hemorrhage, Neonatal death |
OMIM:311900 |
Cerebral Visual Impairment |
|
Intracranial hemorrhage, Ischemic stroke, Hydrocephalus |
ORPHA:447788 |
Pseudo-Torch Syndrome 3 |
|
Hypertension, Death in infancy, Cerebral hemorrhage |
OMIM:618886 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension |
ORPHA:231625 |
Meckel Syndrome, Type 5 |
|
Cleft palate, Occipital encephalocele, Cleft upper lip, Anencephaly |
OMIM:611561 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Cerebellar hemorrh... |
ORPHA:99901 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
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Short stature, Fetal intraventricular hemorrhage, Sacral dimple |
OMIM:618480 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
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Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters, Neonatal death |
OMIM:619817 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
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Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:619260 |
Late-Infantile/Juvenile Krabbe Disease |
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Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... |
ORPHA:206443 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Aortic valve stenosis, Aortic root aneurysm, Congestive heart failure, Aortic atherosclerotic les... |
ORPHA:363618 |
Lethal Omphalocele-Cleft Palate Syndrome |
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Bifid uvula, Unilateral cleft lip, Cleft soft palate, Hydrocephalus, Cleft palate |
ORPHA:2736 |
Chronic Graft Versus Host Disease |
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Erythema, Intermittent generalized erythematous papular rash, Skin vesicle, Skin ulcer |
ORPHA:99921 |
Hereditary Pheochromocytoma-Paraganglioma |
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Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Pallo... |
ORPHA:29072 |
Kaposiform Lymphangiomatosis |
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Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormal lymphatic vessel morphology, Ecch... |
ORPHA:464329 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
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Hydranencephaly, Tricuspid regurgitation, Retinal arterial tortuosity, Retinal hemorrhage, Vitreo... |
OMIM:620371 |
Radius, Aplasia Of, With Cleft Lip/Palate |
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Cleft palate, Cleft upper lip |
OMIM:179400 |
Hemorrhagic Fever-Renal Syndrome |
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Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Petechiae, Ecchymosis, H... |
ORPHA:340 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
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Death in infancy, Subdural hemorrhage, Death in childhood, Cerebral hemorrhage |
OMIM:620278 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
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Cerebellar hemorrhage, Cardiomyopathy |
OMIM:251000 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
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Atypical scarring of skin, Subdural hemorrhage, Bruising susceptibility, Umbilical hernia, Arteri... |
ORPHA:536545 |
Cocaine Intoxication |
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Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Prolonged QRS complex, Ischemic stro... |
ORPHA:90068 |
1P31P32 Microdeletion Syndrome |
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Moyamoya phenomenon, Intraventricular hemorrhage |
ORPHA:401986 |
Idiopathic Hypereosinophilic Syndrome |
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Dilated cardiomyopathy, Pulmonary embolism, Congestive heart failure, Transient ischemic attack, ... |
ORPHA:3260 |
Crimean-Congo Hemorrhagic Fever |
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Gingival bleeding, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Bundle branch block, Hemoth... |
ORPHA:99827 |
Adult Krabbe Disease |
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Urinary incontinence, Delayed brainstem auditory evoked response conduction time, EEG abnormality |
ORPHA:206448 |
Riddle Syndrome |
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Erythema, Conjunctival telangiectasia, Telangiectasia, Intraventricular hemorrhage, Scaling skin,... |
ORPHA:420741 |
Hutchinson-Gilford Progeria Syndrome |
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Aortic valve stenosis, Dermal atrophy, Mitral regurgitation, Left ventricular diastolic dysfuncti... |
ORPHA:740 |
Leukodystrophy, Hypomyelinating, 13 |
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Delayed brainstem auditory evoked response conduction time, Optic atrophy |
OMIM:616881 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
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Gastrointestinal hemorrhage, Arteriovenous malformation, Pulmonary embolism, Subcutaneous hemorrh... |
ORPHA:394 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Intrauterine growth retardation,... |
ORPHA:79282 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
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Intrauterine growth retardation, Growth delay, Intraventricular hemorrhage |
ORPHA:79284 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
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Subarachnoid hemorrhage, Growth delay, Cerebral vasculitis |
OMIM:243700 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
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Exencephaly, Encephalocele, Long philtrum |
ORPHA:2211 |
Glutaryl-Coa Dehydrogenase Deficiency |
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Retinal hemorrhage, Communicating hydrocephalus, Subdural hemorrhage |
ORPHA:25 |
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
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Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Abnormal auditory evoked potentials, Urinary retention, Abnormality of somatosensory evoked poten... |
ORPHA:99027 |
Arthrogryposis, Distal, Type 2A |
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Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
Chronic Bilirubin Encephalopathy |
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Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
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Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529799 |
Infantile Krabbe Disease |
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Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... |
ORPHA:206436 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Arrhythmia, Dilated cardiomyopathy, Antenatal intracerebral hemorrhage, Death in infancy |
OMIM:608836 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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Interrupted aortic arch, Hydrocephalus, Short stature, Heart murmur, Intracranial hemorrhage, Pat... |
ORPHA:163979 |
Charcot-Marie-Tooth Disease Type 1F |
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Decreased nerve conduction velocity, Sensorineural hearing impairment, Absent brainstem auditory ... |
ORPHA:101085 |
Hydranencephaly |
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Postnatal growth retardation, Intrauterine growth retardation, Abnormal internal carotid artery m... |
ORPHA:2177 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
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Short stature, Intracranial hemorrhage, Hypertension |
ORPHA:90795 |
Craniorachischisis |
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Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anal atresia, Anencephaly |
ORPHA:63260 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
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Intraventricular hemorrhage, Hydrocephalus, Sacral dimple |
OMIM:613603 |
Combined Oxidative Phosphorylation Deficiency 25 |
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Short stature, Intraventricular hemorrhage |
OMIM:616430 |
Arachnoid Cyst |
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Hydrocephalus, Subarachnoid hemorrhage, Holoprosencephaly, Encephalocele |
ORPHA:2356 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
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Short stature, Intrauterine growth retardation, Subdural hemorrhage |
OMIM:619714 |
Cockayne Syndrome Type 1 |
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Optic atrophy, Hearing impairment, Renal insufficiency, Abnormality of peripheral nerve conductio... |
ORPHA:90321 |
Medulloblastoma |
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Cerebellar hemorrhage, Hydrocephalus |
ORPHA:616 |
Cockayne Syndrome Type 3 |
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Vascular calcification, Aortic root aneurysm, Premature coronary artery atherosclerosis, Subdural... |
ORPHA:90324 |
Glycogen Storage Disease Ii |
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Sinus tachycardia, Dilatation of the cerebral artery, Shortened PR interval, Subarachnoid hemorrh... |
OMIM:232300 |
Osteogenesis Imperfecta |
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Arterial dissection, Aortic regurgitation, Rhizomelia, Aortic root aneurysm, Aortic dissection, B... |
ORPHA:666 |
Nelson Syndrome |
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Striae distensae, Intracranial hemorrhage, Hypertension |
ORPHA:199244 |
Loeys-Dietz Syndrome 3 |
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Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitation, Dilatation of the si... |
OMIM:613795 |
Autoinflammatory Disease, Systemic, X-Linked |
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Cerebral hemorrhage |
OMIM:301081 |
Hellp Syndrome |
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Hypotension, Internal hemorrhage, Prolonged prothrombin time, Cerebral hemorrhage |
ORPHA:244242 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Sen... |
OMIM:609136 |
Trisomy 10P |
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Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Multiple renal cys... |
ORPHA:171929 |
Mogs-Cdg |
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Optic atrophy, Absent brainstem auditory responses, Abnormality of visual evoked potentials, Sens... |
ORPHA:79330 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Cardiomyopathy, Sacral dimple, Postnatal growth retardation, Numerous nevi, Intraventricular hemo... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Cardiomyopathy, Sacral dimple, Postnatal growth retardation, Numerous nevi, Intraventricular hemo... |
ORPHA:363958 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
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Intracranial hemorrhage, Hydrocephalus |
ORPHA:91350 |
Dpagt1-Cdg |
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Prolonged QT interval, Stroke-like episode, Intracranial hemorrhage, Skin dimple |
ORPHA:86309 |
Cerebrotendinous Xanthomatosis |
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Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality... |
ORPHA:909 |
Superficial Siderosis |
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Abnormal bleeding, Arteriovenous malformation, Abnormal vertebral artery morphology, Subarachnoid... |
ORPHA:247245 |
Cockayne Syndrome B |
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Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Renal in... |
OMIM:133540 |
Cockayne Syndrome A |
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Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Renal in... |
OMIM:216400 |
Osteogenesis Imperfecta, Type Xvii |
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Short stature, Intraventricular hemorrhage |
OMIM:616507 |
Viss Syndrome |
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Iliac artery aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Bruising susceptibility, ... |
OMIM:619472 |
Acute Liver Failure |
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Hypotension, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Shock, Prol... |
ORPHA:90062 |
Meningioma |
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Syncope, Hydrocephalus, Cerebral hemorrhage |
ORPHA:2495 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Dilation of Virchow-Robin spaces, Retinal arteriolar tortuosity, Ischemic stroke, Corneal neovasc... |
OMIM:175780 |
Witteveen-Kolk Syndrome |
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Branchial fistula, Intrauterine growth retardation, Short stature, Intracranial hemorrhage, Growt... |
OMIM:613406 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Preauricular skin tag, Patent ductus arteriosus, Cerebral hemorrhage |
OMIM:616682 |
Sacral Defect With Anterior Meningocele |
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Myelomeningocele, Myeloschisis, Hydrocephalus, Rectal abscess, Meningocele, Dermal sinus tract |
OMIM:600145 |
Mend Syndrome |
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Low-set ears, Abnormal auditory evoked potentials |
ORPHA:401973 |
Acute Transverse Myelitis |
|
Subarachnoid hemorrhage, Hypertension, Orthostatic hypotension |
ORPHA:139417 |
Familial Cerebral Cavernous Malformation |
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Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
Pmm2-Cdg |
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Hypertrophic cardiomyopathy, Angina pectoris, Intracranial hemorrhage, Pericarditis |
ORPHA:79318 |
Bcard Syndrome |
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Bruising susceptibility, Dilatation of the cerebral artery, Postnatal growth retardation, Intraut... |
OMIM:612394 |