Spermatogenic Failure 5 |
|
Functional abnormality of male internal genitalia, Male infertility |
OMIM:243060 |
Spermatogenic Failure 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia |
ORPHA:981 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
Spermatogenic Failure 45 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
Spermatogenic Failure 49 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
Aneurysm, Intracranial Berry, 2 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage |
OMIM:608542 |
Aneurysm, Intracranial Berry, 12 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm |
OMIM:618734 |
Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
Spermatogenic Failure 62 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
Spermatogenic Failure 59 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619646 |
Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... |
OMIM:619585 |
Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
Spermatogenic Failure 47 |
|
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
Spermatogenic Failure 7 |
|
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 48 |
|
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
Spermatogenic Failure 11 |
|
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella |
OMIM:618670 |
Male Infertility Due To Acephalic Spermatozoa |
|
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... |
ORPHA:529970 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spermatogenic Failure 1 |
|
Oligospermia, Male infertility, Cryptozoospermia |
OMIM:258150 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 57 |
|
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia |
OMIM:619528 |
Cerebral Cavernous Malformations |
|
Cerebral cavernous malformation, Intracranial hemorrhage |
OMIM:116860 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Cerebral hemorrhage, Stroke, Intracranial hemorrhage |
OMIM:105150 |
Cerebral Cavernous Malformations 2 |
|
Cerebral hemorrhage, Telangiectasia, Cerebral cavernous malformation, Stroke |
OMIM:603284 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia |
OMIM:619145 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Partial Chromosome Y Deletion |
|
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia |
ORPHA:1646 |
Abetal34V Amyloidosis |
|
Cerebral hemorrhage, Stroke, Abnormal cerebral vascular morphology |
ORPHA:324703 |
Congenital Factor V Deficiency |
|
Bruising susceptibility, Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following proce... |
ORPHA:326 |
Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Familial Cervical Artery Dissection |
|
Hypertension, Recurrent cerebral hemorrhage, Cerebral ischemia, Stroke, Transient ischemic attack... |
ORPHA:36382 |
Glanzmann Thrombasthenia 1 |
|
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, ... |
OMIM:273800 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Cerebral hemorrhage, Subdural hemorrhage, Vasospasm, Intraventricular hemorrhage, Abnormal bleedi... |
ORPHA:284388 |
+173470 integrin, beta-3 |
|
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, ... |
OMIM:173470 |
Factor Xiii, A Subunit, Deficiency Of |
|
Ecchymosis, Intracranial hemorrhage, Joint hemorrhage, Epistaxis, Spontaneous hematomas, Abnormal... |
OMIM:613225 |
Congenital Factor Ii Deficiency |
|
Menorrhagia, Intracranial hemorrhage, Prolonged bleeding following procedure, Post-partum hemorrh... |
ORPHA:325 |
Immune Thrombocytopenia |
|
Cerebral hemorrhage, Gingival bleeding, Petechiae, Epistaxis, Gastrointestinal hemorrhage, Purpur... |
ORPHA:3002 |
Cerebral Cavernous Malformations 3 |
|
Cerebral hemorrhage, Cerebral cavernous malformation |
OMIM:603285 |
Congenital Factor Vii Deficiency |
|
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... |
ORPHA:327 |
Factor Vii Deficiency |
|
Menorrhagia, Intracranial hemorrhage, Joint hemorrhage, Epistaxis, Abnormal bleeding |
OMIM:227500 |
Abeta Amyloidosis, Iowa Type |
|
Cerebral hemorrhage, Stroke, Abnormal cerebral vascular morphology |
ORPHA:324708 |
Abeta Amyloidosis, Italian Type |
|
Cerebral hemorrhage, Stroke |
ORPHA:324713 |
Moderate Hemophilia A |
|
Intracranial hemorrhage, Epidural hemorrhage, Gingival bleeding, Subdural hemorrhage, Joint hemor... |
ORPHA:169805 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Ecchymosis, Intracranial hemorrhage, Petechiae, Melena, Spontaneous hematomas, Cephalohematoma, G... |
ORPHA:853 |
Isochromosomy Yp |
|
Male infertility, Azoospermia |
ORPHA:98797 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Cerebral hemorrhage, Purpura, Pulmonary embolism |
OMIM:614514 |
Severe Hemophilia A |
|
Menorrhagia, Intracranial hemorrhage, Epidural hemorrhage, Subdural hemorrhage, Joint hemorrhage,... |
ORPHA:169802 |
Hemophilia A |
|
Intracranial hemorrhage, Joint hemorrhage, Bleeding with minor or no trauma, Spontaneous hematoma... |
ORPHA:98878 |
Spermatogenic Failure 38 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618433 |
Congenital Factor Xiii Deficiency |
|
Cerebral hemorrhage, Ecchymosis, Menorrhagia, Gingival bleeding, Post-partum hemorrhage, Joint he... |
ORPHA:331 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Intracranial hemorrhage, Gingival bleeding, Joint hemorrhage, Persistent bleeding after trauma, A... |
ORPHA:79 |
Combined Deficiency Of Factor V And Factor Viii |
|
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Prolonged prothrombin time, Joint hemorr... |
ORPHA:35909 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Menorrhagia, Intracranial hemorrhage, Epidural hemorrhage, Post-partum hemorrhage, Joint hemorrha... |
ORPHA:465 |
Congenital Factor X Deficiency |
|
Menorrhagia, Subarachnoid hemorrhage, Gingival bleeding, Post-partum hemorrhage, Prolonged prothr... |
ORPHA:328 |
Familial Cerebral Saccular Aneurysm |
|
Hypertension, Intracranial hemorrhage, Abnormal circle of Willis morphology, Cerebral berry aneur... |
ORPHA:231160 |
Factor X Deficiency |
|
Menorrhagia, Intracranial hemorrhage, Gingival bleeding, Prolonged prothrombin time, Joint hemorr... |
OMIM:227600 |
Hemophilia B |
|
Intracranial hemorrhage, Joint hemorrhage, Spontaneous, recurrent epistaxis, Cephalohematoma, Pro... |
ORPHA:98879 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility |
OMIM:261550 |
Methanol Poisoning |
|
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Permanent atrial fibrillation, Myocar... |
ORPHA:31825 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Cerebral ischemia, Stroke, Transient ... |
ORPHA:136 |
Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Recurrent cerebral hemorrhage, Cerebral ischemia, Stroke, Cerebellar ... |
OMIM:605714 |
Neurocutaneous Melanocytosis |
|
Meningocele, Dandy-Walker malformation, Intracranial hemorrhage, Chiari malformation, Aplasia/Hyp... |
ORPHA:2481 |
Dural Sinus Malformation |
|
Cerebral hemorrhage, Intracranial hemorrhage, Subdural hemorrhage, Stroke, Hydrocephalus, Subarac... |
ORPHA:97339 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Dilated cardiomyopathy, Moyamoya phenomenon, Cerebral hemorrhage, Abnormal left ventricle morphol... |
OMIM:300845 |
Brain Small Vessel Disease 3 |
|
Cerebral hemorrhage |
OMIM:618360 |
Acquired Von Willebrand Syndrome |
|
Menorrhagia, Intracranial hemorrhage, Mitral regurgitation, Prolonged prothrombin time, Aortic re... |
ORPHA:99147 |
Snakebite Envenomation |
|
Ecchymosis, Intracranial hemorrhage, Gingival bleeding, Epistaxis, Tachycardia, Cerebral ischemia... |
ORPHA:449285 |
Familial Afibrinogenemia |
|
Cerebral hemorrhage, Epistaxis, Abnormal bleeding, Gingival bleeding |
ORPHA:98880 |
Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage |
OMIM:614483 |
Isochromosomy Yq |
|
Male infertility, Azoospermia |
ORPHA:98798 |
Sneddon Syndrome |
|
Cerebral hemorrhage, Hypertension, Ischemic stroke |
OMIM:182410 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Hydrocephalus |
ORPHA:398189 |
Sneddon Syndrome |
|
Hypertension, Intracranial hemorrhage |
ORPHA:820 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, Syncope, Hypertension, ST segment depression, Prolonged QTc interval, Cerebr... |
ORPHA:90065 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Subarachnoid hemorrhage, Cerebral vasculitis |
OMIM:243700 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility |
OMIM:301060 |
Primary Angiitis Of The Central Nervous System |
|
Intracranial hemorrhage, Transient ischemic attack, Stroke, Cerebral vasculitis |
ORPHA:140989 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy, Hypertension, Moyamoya phenomenon, Cerebral hemorrhage, Ischemic stroke |
ORPHA:280679 |
Fibronectin Glomerulopathy |
|
Cerebral hemorrhage, Hypertension |
ORPHA:84090 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
Familial Hyperaldosteronism Type Iii |
|
Hypertension, Intracranial hemorrhage, Prolonged QT interval, Epistaxis, Left ventricular hypertr... |
ORPHA:251274 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hypertension, Ventricular septal defect, Intracranial hemorrhage, Ventricular hypertrophy, Epista... |
ORPHA:369929 |
Wyburn-Mason Syndrome |
|
Cerebral hemorrhage, Gingival bleeding, Epistaxis, Abnormal cerebral vascular morphology, Subarac... |
ORPHA:53719 |
Dengue Fever |
|
Cerebral hemorrhage, Gingival bleeding, Petechiae, Epistaxis, Gastrointestinal hemorrhage, Hypote... |
ORPHA:99828 |
Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Macular purpura, Prolonged prothrombin time, Internal hemorrhage |
ORPHA:49566 |
Menkes Disease |
|
Intracranial hemorrhage |
OMIM:309400 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Hypertension, Cardiomegaly, Cerebellar hypoplasia |
OMIM:618886 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Cerebral hemorrhage, Hypertrophic cardiomyopathy, Intracranial hemorrhage, Abnormal heart morphol... |
ORPHA:464321 |
Polycythemia Vera |
|
Cerebral hemorrhage, Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome |
OMIM:263300 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Cerebellar hypoplasia, Bradycardia, Petechiae |
OMIM:617397 |
Hereditary Hemorrhagic Telangiectasia |
|
Cerebral hemorrhage, Conjunctival telangiectasia, Telangiectasia of the skin, Epistaxis, Pulmonar... |
ORPHA:774 |
Familial Hyperaldosteronism Type Ii |
|
Hypertension, Epistaxis, Intracranial hemorrhage |
ORPHA:404 |
Fetal Gaucher Disease |
|
Neonatal death, Intracranial hemorrhage, Stillbirth |
ORPHA:85212 |
Familial Hyperaldosteronism Type I |
|
Hypertension, Epistaxis, Intracranial hemorrhage |
ORPHA:403 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Stroke, Hypotension |
OMIM:263400 |
Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Hypertension, Myocardial infarction |
OMIM:133100 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Palpitations, Congestive heart failure, Hypertension associated with pheochr... |
ORPHA:94080 |
Familial Multiple Nevi Flammei |
|
Intracranial hemorrhage, Arrhythmia, Pulmonary embolism |
ORPHA:624 |
Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Hematochezia |
OMIM:277175 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congestive heart failure, Positive regit... |
OMIM:171420 |
Extracranial Carotid Artery Aneurysm |
|
Hypertension, Total anomalous pulmonary venous return, Cerebral ischemia, Stroke, Vasculitis, Art... |
ORPHA:494424 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility |
ORPHA:3226 |
Autoerythrocyte Sensitization Syndrome |
|
Ecchymosis, Menorrhagia, Intracranial hemorrhage, Joint hemorrhage, Epistaxis, Gastrointestinal h... |
ORPHA:324636 |
Cerebral Visual Impairment |
|
Ischemic stroke, Intracranial hemorrhage, Hydrocephalus |
ORPHA:447788 |
Isovaleric Acidemia |
|
Cerebellar hemorrhage |
OMIM:243500 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Cerebral hemorrhage, Mitral valve prolapse, Angina pectoris, Gastrointestinal hemorrhage, Retinal... |
OMIM:177850 |
Hypophosphatasia, Infantile |
|
Intracranial hemorrhage, Stillbirth |
OMIM:241500 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cardiomyopathy, Cerebellar hemorrhage |
OMIM:251000 |
Tempi Syndrome |
|
Telangiectasia, Intracranial hemorrhage |
ORPHA:284227 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypertension, Intracranial hemorrhage, Abnormal T-wave, Palpitations, Epistaxis |
ORPHA:231625 |
Acys Amyloidosis |
|
Cerebral hemorrhage, Stroke |
ORPHA:100008 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Male infertility |
ORPHA:3000 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Prolonged prothrombin time, Congestive heart... |
ORPHA:99901 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Hypertension, Bicuspid aortic valve, Aortic regurgitation, Cardiomegaly, Stroke, Transient ischem... |
ORPHA:91387 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Male infertility |
ORPHA:48 |
Aspergillosis |
|
Stroke, Intracranial hemorrhage |
ORPHA:1163 |
Kaposiform Lymphangiomatosis |
|
Ecchymosis, Epidural hemorrhage, Pericardial effusion, Subconjunctival hemorrhage, Epistaxis, Abn... |
ORPHA:464329 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Cerebral hemorrhage, Ischemic stroke, Conjunctival telangiectasia, Spontaneous, recurrent epistax... |
OMIM:610655 |
Abeta Amyloidosis, Dutch Type |
|
Cerebral hemorrhage, Stroke |
ORPHA:100006 |
Medulloblastoma |
|
Cerebellar cyst, Hydrocephalus, Cerebellar calcifications, Cerebellar hemorrhage |
ORPHA:616 |
Propionic Acidemia |
|
Cardiomyopathy, Cerebellar hemorrhage |
OMIM:606054 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Subdural hemorrhage, Melena, Diffuse alveolar hemorrhage, Abnormal left ventricular ... |
ORPHA:99827 |
Wiskott-Aldrich Syndrome |
|
Intracranial hemorrhage, Gingival bleeding, Petechiae, Epistaxis, Recurrent intrapulmonary hemorr... |
ORPHA:906 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Cerebral hemorrhage, Hypertension, Fingerpad telangiectases, Lip telangiectasia, Ischemic stroke,... |
OMIM:600376 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Intracranial hemorrhage, Atrial septal defect, Hydrocephalus, Cerebell... |
ORPHA:163979 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertension, Intracranial hemorrhage, Mitral regurgitation, Mitral valve calcification, Ventricu... |
ORPHA:363618 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Mirage Syndrome |
|
Intracranial hemorrhage, Hydrocephalus, Petechiae |
OMIM:617053 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Palpitations, Congestive heart failure, Hypertension associated with pheochr... |
ORPHA:276621 |
Cocaine Intoxication |
|
Cerebral hemorrhage, Hypertension, Prolonged QT interval, Ventricular arrhythmia, Tachycardia, My... |
ORPHA:90068 |
Hemorrhagic Fever-Renal Syndrome |
|
Ecchymosis, Hypertension, Shock, Intracranial hemorrhage, Petechiae, Palpitations, Subconjunctiva... |
ORPHA:340 |
Arachnoid Cyst |
|
Chiari malformation, Holoprosencephaly, Hydrocephalus, Subarachnoid hemorrhage, Abnormal cerebell... |
ORPHA:2356 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
Ring Chromosome Y Syndrome |
|
Streak ovary, Azoospermia, Female infertility, Male hypogonadism, Abnormal spermatogenesis, Male ... |
ORPHA:261529 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Spontaneous, recurrent epistaxis, Melena, Transient ischemic attack, Nasal mucosa telangiectasia,... |
OMIM:187300 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Dilated cardiomyopathy, Subdural hemorrhage, Abnormal heart morphology, Pulmonary arterial hypert... |
ORPHA:79282 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Cerebral hemorrhage, Bicuspid aortic valve, Dextrocardia, Antenatal intracerebral hemorrhage, Sub... |
ORPHA:536545 |
Pheochromocytoma |
|
Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congestive heart failure, Positive regit... |
OMIM:171300 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Retinal hemorrhage, Subdural hemorrhage |
ORPHA:25 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Antenatal intracerebral hemorrhage, Arrhythmia, Cardiomegaly |
OMIM:608836 |
Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage |
OMIM:616507 |
Classic Homocystinuria |
|
Hypertension, Intracranial hemorrhage, Cerebral ischemia, Subcutaneous hemorrhage, Gastrointestin... |
ORPHA:394 |
Classic Galactosemia |
|
Secondary amenorrhea, Oligomenorrhea, Male infertility, Primary amenorrhea, Premature ovarian ins... |
ORPHA:79239 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Abnormal heart morphology, Intraventricular hemorrhage |
ORPHA:79284 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Telangiectasia, Intracranial hemorrhage, Angina pectoris, Subcutaneous hemorrhage |
ORPHA:109 |
Idiopathic Hypereosinophilic Syndrome |
|
Dilated cardiomyopathy, Intracranial hemorrhage, Myocardial eosinophilic infiltration, Vasculitis... |
ORPHA:3260 |
Hutchinson-Gilford Progeria Syndrome |
|
Hypertension, Intracranial hemorrhage, Mitral regurgitation, Mitral valve calcification, Abnormal... |
ORPHA:740 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Palpitations, Congestive heart failure, Hypertension associated with pheochr... |
ORPHA:29072 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Immotile sperm, Reduced sperm motility |
OMIM:613807 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage, Hydrocephalus |
ORPHA:91350 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Intracranial hemorrhage, Umbilical hernia, Spontaneous hematomas |
ORPHA:565 |
Superficial Siderosis |
|
Cerebellar atrophy, Abnormal bleeding, Abnormal cerebellar vermis morphology, Internal hemorrhage... |
ORPHA:247245 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Prolonged prothrombin time, Neonatal death, Intraventricular hemorrhage |
OMIM:619055 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Hypertension, Intracranial hemorrhage |
ORPHA:90795 |
Hellp Syndrome |
|
Prolonged prothrombin time, Internal hemorrhage, Hypotension, Cerebral hemorrhage |
ORPHA:244242 |
Cockayne Syndrome Type 3 |
|
Subdural hemorrhage, Cardiomyopathy, Increased blood pressure, Stroke, Dense calcifications in th... |
ORPHA:90324 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Cardiomyopathy, Pulm... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Cardiomyopathy, Pulm... |
ORPHA:363958 |
Dpagt1-Cdg |
|
Intracranial hemorrhage, Prolonged QT interval, Cerebellar hypoplasia, Abnormal cerebellum morpho... |
ORPHA:86309 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Exencephaly |
ORPHA:2211 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Hydranencephaly |
|
Abnormal cerebral artery morphology, Antenatal intracerebral hemorrhage, Dilatation of the ventri... |
ORPHA:2177 |
Meningioma |
|
Cerebral hemorrhage, Syncope, Hydrocephalus, Abnormal cerebellum morphology |
ORPHA:2495 |
Osteogenesis Imperfecta |
|
Cerebral hemorrhage, Abnormal endocardium morphology, Mitral valve prolapse, Aortic regurgitation... |
ORPHA:666 |
Acute Liver Failure |
|
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Gastrointestinal hemorrhage, Abnormal... |
ORPHA:90062 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Nelson Syndrome |
|
Hypertension, Intracranial hemorrhage |
ORPHA:199244 |
Parkes Weber Syndrome |
|
High-output congestive heart failure, Bounding pulse, Abnormal bleeding, Subarachnoid hemorrhage,... |
ORPHA:90307 |
Posterior Meningocele |
|
Meningocele, Occipital meningocele, Chiari malformation, Neural tube defect, Hydrocephalus, Lipom... |
ORPHA:268810 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Cerebral hemorrhage, Cerebellar atrophy, Hydrocephalus, Ischemic stroke, Corneal neovascularization |
OMIM:175780 |
47,Xyy Syndrome |
|
Oligospermia, Male infertility, Azoospermia |
ORPHA:8 |
Riddle Syndrome |
|
Telangiectasia, Conjunctival telangiectasia, Intraventricular hemorrhage |
ORPHA:420741 |
Loeys-Dietz Syndrome 3 |
|
Bicuspid aortic valve, Mitral valve prolapse, Atrial fibrillation, Mitral regurgitation, Umbilica... |
OMIM:613795 |
Androgen Insensitivity Syndrome |
|
Male infertility |
ORPHA:754 |
Viss Syndrome |
|
Ventricular septal defect, Right ventricular dilatation, Epidural hemorrhage, Mitral valve prolap... |
OMIM:619472 |
Primary Ciliary Dyskinesia |
|
Female infertility, Male infertility, Abnormal sperm motility |
ORPHA:244 |
Acute Transverse Myelitis |
|
Orthostatic hypotension, Hypertension, Subarachnoid hemorrhage |
ORPHA:139417 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Primary amenorrhea |
ORPHA:99429 |
Partial Androgen Insensitivity Syndrome |
|
Male sexual dysfunction, Male infertility, Primary amenorrhea, Azoospermia |
ORPHA:90797 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male hypogonadism, Male infertility, Primary amenorrhea, Irregular menstruation, Decreased fertility |
ORPHA:90793 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Male infertility, Hypogonadism |
ORPHA:85450 |
Familial Cerebral Cavernous Malformation |
|
Cerebral hemorrhage |
ORPHA:221061 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility |
OMIM:244400 |
Aromatase Deficiency |
|
Female infertility, Male infertility, Primary amenorrhea, Hypergonadotropic hypogonadism |
ORPHA:91 |
Pmm2-Cdg |
|
Hypertrophic cardiomyopathy, Dandy-Walker malformation, Intracranial hemorrhage, Pericarditis, Pe... |
ORPHA:79318 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Hypergonadotropic hypogonadism |
OMIM:227650 |
Bloom Syndrome |
|
Oligospermia, Male infertility, Premature ovarian insufficiency, Azoospermia |
ORPHA:125 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Azoospermia, Male infertility, Primary amenorrhea, Hypergonadotropic hypogonadism, ... |
ORPHA:251510 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Chordee, Male infertility, Streak ovary, Azoospermia |
ORPHA:1772 |
Cystinosis, Nephropathic |
|
Male hypogonadism, Male infertility |
OMIM:219800 |
Cystic Fibrosis |
|
Male infertility |
OMIM:219700 |
Noonan Syndrome 1 |
|
Hypogonadism, Male infertility |
OMIM:163950 |
Joubert Syndrome |
|
Cerebellar vermis hypoplasia, Situs inversus totalis, Hydrocephalus |
ORPHA:475 |
Joubert Syndrome With Ocular Defect |
|
Dextrocardia, Cerebellar vermis hypoplasia, Hydrocephalus |
ORPHA:220493 |
Joubert Syndrome 15 |
|
|
OMIM:614464 |