Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Lipedema |
|
Edema |
OMIM:614103 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Angioedema, Hereditary, 6 |
|
Facial edema, Angioedema, Edema of the dorsum of hands |
OMIM:619363 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Placental Insufficiency |
|
Abnormal umbilical cord blood vessel morphology, Miscarriage, Proportionate short stature, Abnorm... |
ORPHA:439167 |
Kaposi Sarcoma, Susceptibility To |
|
Edema |
OMIM:148000 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... |
ORPHA:284388 |
Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
Familial Cervical Artery Dissection |
|
Striae distensae, Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, ... |
ORPHA:36382 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Stroke, P... |
ORPHA:90064 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag... |
ORPHA:98878 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Moderate Hemophilia A |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... |
ORPHA:169805 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Anemia, Purpura, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Gingival bleeding,... |
ORPHA:3002 |
Congenital Factor Xiii Deficiency |
|
Umbilical cord hematoma, Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding aft... |
ORPHA:331 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
Abetal34V Amyloidosis |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324703 |
Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Pallor, Anemia |
ORPHA:46532 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short stature, Postnatal growth retardation, Severe postnatal growth retardation, Severe intraute... |
ORPHA:73272 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis |
OMIM:614224 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Familial Afibrinogenemia |
|
Abnormal bleeding, Miscarriage, Epistaxis, Cerebral hemorrhage, Gingival bleeding |
ORPHA:98880 |
Congenital Heart Block |
|
Premature birth, First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Pa... |
ORPHA:60041 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Death in infancy, Intraventricular hemorrhage, Death in adolescence, Prolonged prothrombin time, ... |
OMIM:619055 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture... |
OMIM:202400 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage |
ORPHA:981 |
Abeta Amyloidosis, Iowa Type |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324708 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Cardiac arrest, Megaloblastic anemia, Paroxysmal atrial tachycardia, Congestive he... |
ORPHA:49827 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Intraventricular hemorrhage, Growth delay, Neutropenia, Intrauterine growth... |
ORPHA:79284 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper... |
ORPHA:136 |
Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia |
ORPHA:517 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Short stature, Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Delaye... |
ORPHA:280679 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Postnatal growth retardation, Intrauterine growth retardation, Small placenta, Oligohydramnios |
ORPHA:397590 |
Sneddon Syndrome |
|
Cerebral hemorrhage, Hypertension, Stroke, Ischemic stroke, Lymphopenia |
OMIM:182410 |
Macular Dystrophy, Dominant Cystoid |
|
Cystoid macular edema, Edema |
OMIM:153880 |
Dural Sinus Malformation |
|
Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Subdural hemorrh... |
ORPHA:97339 |
Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Abnormal pl... |
OMIM:273800 |
Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage, Polyhydramnios |
OMIM:215550 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:94080 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Leukopenia, Gingiv... |
ORPHA:99828 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Congestive heart failure, Hydrop... |
ORPHA:163596 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyper... |
OMIM:619170 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Short stature, Anisocytosis, Anemia of inadequate production, Splenomegaly, Grow... |
OMIM:615631 |
Pseudo-Torch Syndrome 3 |
|
Death in infancy, Premature birth, Cerebral hemorrhage, Leukocytosis, Hypertension, Congenital th... |
OMIM:618886 |
Acquired Idiopathic Sideroblastic Anemia |
|
Abnormal bleeding, Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate ... |
ORPHA:75564 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Cerebral cavernous malformation |
OMIM:116860 |
1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Moyamoya phenomenon |
ORPHA:401986 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Stroke,... |
OMIM:263400 |
Nphp3-Related Meckel-Like Syndrome |
|
Polyhydramnios, Abnormality of the pancreas, Abnormal liver parenchyma morphology, Abnormal bilia... |
ORPHA:3032 |
Wyburn-Mason Syndrome |
|
Peripheral arteriovenous fistula, Epistaxis, Abnormal cerebral vascular morphology, Cerebral hemo... |
ORPHA:53719 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... |
ORPHA:774 |
Fetal Gaucher Disease |
|
Death in infancy, Pancytopenia, Decreased fetal movement, Fetal akinesia sequence, Abnormality of... |
ORPHA:85212 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypertension,... |
ORPHA:90065 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro... |
ORPHA:853 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Neutropenia in presence of a... |
ORPHA:1959 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema |
OMIM:618773 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Growth delay, Sideroblastic anemia, Hypertrophic cardiomyopathy, Pallor |
OMIM:613561 |
Periventricular Nodular Heterotopia 1 |
|
Patent ductus arteriosus, Stroke, Cerebral hemorrhage |
OMIM:300049 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... |
ORPHA:169802 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Erythema, In... |
ORPHA:449285 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Short stature |
OMIM:616430 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Short stature, Cerebral hemorrhage, Postnatal growth retardation, Dilated cardiomyopathy, Stroke-... |
OMIM:300845 |
Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Umbilical cord hematoma, Epidural hemorrhage, Miscarriage, Prolonged... |
ORPHA:465 |
Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Short stature, Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrhage, Melena, Ora... |
ORPHA:98870 |
Factor Xiii, A Subunit, Deficiency Of |
|
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... |
OMIM:613225 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... |
OMIM:277450 |
Pseudo-Torch Syndrome 2 |
|
Petechiae, Cerebral hemorrhage, Patent ductus arteriosus, Bradycardia, Fetal distress, Thrombocyt... |
OMIM:617397 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Short stature, Intraventricular hemorrhage, Erythema, Telangiectasia... |
ORPHA:420741 |
Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Cerebral hemorrhage |
ORPHA:542310 |
Primary Myelofibrosis |
|
Abnormal bleeding, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Portal hypertensio... |
ORPHA:824 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Postnatal growth retardation, Large placenta, Umbilical hernia, Polyhydramnios |
ORPHA:254534 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Death in infancy, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral re... |
OMIM:620300 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Abnormality of the umbi... |
ORPHA:327 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, I... |
ORPHA:3226 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Vitreous floaters, Cardiomegaly |
ORPHA:85447 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Intraventricular hemorrhage, Polyhydramnios |
OMIM:613603 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Pallor, Anemia |
ORPHA:75563 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxi... |
ORPHA:99147 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Skin ulcer, Anemia, Pallor, Hypertrophic ca... |
ORPHA:848 |
Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage, Growth delay |
OMIM:614483 |
Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... |
OMIM:605714 |
Acquired Purpura Fulminans |
|
Shock, Pyoderma gangrenosum, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura... |
ORPHA:49566 |
White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Abnor... |
ORPHA:464321 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage, Short stature |
OMIM:616507 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Place... |
ORPHA:244242 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:276621 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... |
OMIM:177850 |
Leishmaniasis |
|
Abnormal bleeding, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Skin ulcer, Anemia... |
ORPHA:507 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Decreased hemoglobin concentration, Reticulocytosis, Nonimmune hydrops fetalis, Reduced red cell ... |
OMIM:266200 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Spina bifida, Postnatal growth retardation, Intraventricular hemorrhage, Fetal pyelectasis, Cardi... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Spina bifida, Postnatal growth retardation, Intraventricular hemorrhage, Fetal pyelectasis, Cardi... |
ORPHA:363958 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Growth delay, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Hypochromi... |
OMIM:615234 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Lymphangiectasia, Intestinal |
|
Stillbirth, Decreased circulating IgG level, Edema, Pedal edema |
OMIM:152800 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Menkes Disease |
|
Short stature, Cutis laxa, Intracranial hemorrhage, Death in childhood, Intrauterine growth retar... |
OMIM:309400 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276556 |
Fetal Akinesia Deformation Sequence 1 |
|
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... |
OMIM:208150 |
Factor Vii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... |
OMIM:227500 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Optic atrophy, Hyperammonemia, Hyperalaninemia, Hypertrophic ... |
OMIM:614702 |
Cyclic Vomiting Syndrome |
|
Growth delay, Cardiomyopathy, Pallor |
OMIM:500007 |
Restrictive Dermopathy |
|
Decreased fetal movement, Premature birth, Premature delivery because of cervical insufficiency o... |
ORPHA:1662 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Pallor |
ORPHA:90037 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276575 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension, Arterial stenosis |
ORPHA:820 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276580 |
Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... |
ORPHA:822 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:618838 |
Refsum Disease, Classic |
|
Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy, Rod-cone dystroph... |
OMIM:266500 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Death in infancy, Decreased fetal movement, Cerebral hemorrhage, Breech presentation, Subdural he... |
OMIM:620278 |
Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Redundant neck skin, Polyhydramnios, Postnatal growth retardation, Large placenta, Umbilical hern... |
ORPHA:254528 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Pallor |
ORPHA:276608 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Short stature, Hepatosplenomegaly, Decreased mean corpuscular ... |
OMIM:611590 |
Spontaneous Periodic Hypothermia |
|
Arrhythmia, Pallor |
ORPHA:29822 |
Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Venous insufficiency, Skin ulcer, Intracranial hemorrhage, Arteriovenous malf... |
ORPHA:624 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... |
OMIM:300751 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Growth delay, Pallor, Hypochromic a... |
OMIM:600462 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor |
ORPHA:324575 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly |
ORPHA:858 |
Neu-Laxova Syndrome 1 |
|
Decreased fetal movement, Spina bifida, Polyhydramnios, Fetal akinesia sequence, Patent ductus ar... |
OMIM:256520 |
Abeta Amyloidosis, Dutch Type |
|
Death in early adulthood, Stroke, Cerebral hemorrhage |
ORPHA:100006 |
Imerslund-Gräsbeck Syndrome |
|
Abnormal bleeding, Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Megaloblastic a... |
ORPHA:35858 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:29072 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... |
OMIM:300280 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Hyperalaninemia, Hyperprolinemia, Cardiomegaly |
OMIM:619064 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, High-ou... |
ORPHA:231222 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Hypophosphatasia, Infantile |
|
Death in infancy, Polyhydramnios, Intracranial hemorrhage, Stillbirth, Disproportionate short-lim... |
OMIM:241500 |
Primary Angiitis Of The Central Nervous System |
|
Intracranial hemorrhage, Stroke, Transient ischemic attack, Cerebral vasculitis |
ORPHA:140989 |
Idiopathic Pulmonary Hemosiderosis |
|
Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Iron deficiency anemia, Pallor |
ORPHA:99931 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, C... |
OMIM:212140 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Acys Amyloidosis |
|
Death in early adulthood, Stroke, Cerebral hemorrhage |
ORPHA:100008 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Normocytic anemia, Epistaxis, Abnormality of neutrophils, Congestive... |
ORPHA:33226 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... |
ORPHA:85451 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... |
ORPHA:79 |
Stormorken Syndrome |
|
Abnormal bleeding, Short stature, Epistaxis, Subarachnoid hemorrhage, Howell-Jolly bodies, Asplen... |
OMIM:185070 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Neutropenia, B lymphocytopenia, Cerebral hemorrhage, Hepatosplenomegaly |
OMIM:301081 |
Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Death in infancy, Meningocele |
ORPHA:2481 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Chronic lymphat... |
ORPHA:90033 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Decreased fetal movement, Short stature, Cerebral hemorrhage, Subdural hemorrhage, Arterial ruptu... |
ORPHA:536545 |
Tempi Syndrome |
|
Facial erythema, Intracranial hemorrhage, Telangiectasia, Increased hematocrit, Polycythemia |
ORPHA:284227 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Megaloblastic anemia, Increased mean corpuscular volume, Pallor, Thrombocytopenia |
OMIM:613839 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Patent ductus arteriosus |
OMIM:601612 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... |
ORPHA:906 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Short stature, Thrombocytosis, Increased mean platelet volume, Polyhydramni... |
OMIM:222470 |
Sepsis In Premature Infants |
|
Abnormal bleeding, Tachycardia, Premature birth, Thrombocytopenia, Leukocytosis, Splenomegaly, An... |
ORPHA:90051 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:619051 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Infantile Sialic Acid Storage Disease |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly, Cardiomegaly |
OMIM:269920 |
Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukoc... |
ORPHA:86839 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pigmentary retinopathy, Pericardial constriction |
OMIM:253250 |
American Trypanosomiasis |
|
Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Pallor, Arrhythmia |
ORPHA:3386 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Death in infancy, Dilated cardiomyopathy, Arrhythmia, Antenatal intracerebral hemorrhage, Oligohy... |
OMIM:608836 |
Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s... |
OMIM:171300 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Autoimmune hemolytic anemia, Pallor |
ORPHA:90036 |
Isovaleric Acidemia |
|
Thrombocytopenia, Leukopenia, Cerebellar hemorrhage, Pancytopenia |
OMIM:243500 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... |
ORPHA:98849 |
Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
Parkes Weber Syndrome |
|
Abnormal bleeding, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarac... |
ORPHA:90307 |
Mosaic Trisomy 16 |
|
Premature birth, Large placenta, Patent ductus arteriosus, Coarctation of aorta, Single umbilical... |
ORPHA:1708 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Autoimmune thrombocytopenia, Abnormal ery... |
ORPHA:324636 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor, Anemia, Death in childhood |
OMIM:246450 |
Propionic Acidemia |
|
Pancytopenia, Short stature, Thrombocytopenia, Cerebellar hemorrhage, Cardiomyopathy, Neutropenia... |
OMIM:606054 |
Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Optic atrophy, Hyperammonemia, Hypertrophic cardiomyopathy, Rod-cone dystrophy, Ret... |
ORPHA:391428 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Abnormal mast cell morphology |
ORPHA:398189 |
Lethal Congenital Contracture Syndrome 5 |
|
Decreased fetal movement, Death in infancy, Polyhydramnios, Subdural hemorrhage, Retinal hemorrhage |
OMIM:615368 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Growth delay, Decreased mean corpuscu... |
ORPHA:300298 |
Mirage Syndrome |
|
Short stature, Thrombocytopenia, Patent ductus arteriosus, Intracranial hemorrhage, Leukopenia, A... |
OMIM:617053 |
Aregenerative Anemia |
|
Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Pallor, Neutropenia, De... |
ORPHA:101096 |
Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Caesarian section, Epistaxis |
ORPHA:403 |
Rheumatic Fever |
|
Pericarditis, Epistaxis, Myocarditis, Erythema, Pallor, Arrhythmia |
ORPHA:3099 |
Myelofibrosis |
|
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura |
OMIM:254450 |
Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Increased circulating ferritin concentration, Splenomegaly, Cardiomyo... |
OMIM:235200 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm... |
ORPHA:91387 |
Joubert Syndrome 14 |
|
Encephalocele, Meningocele, Intracranial hemorrhage, Hypertension, Growth delay |
OMIM:614424 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Cardiomegal... |
ORPHA:57777 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Pallor |
ORPHA:56425 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Decreased fetal movement, Spina bifida occulta, Subdural hemorrhage, Polyhydramnios |
OMIM:618291 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Abnormal bleeding, Anemic pallor, Growth delay, Hematochezia, Anemia |
ORPHA:329971 |
Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Cherry red spot of the macula |
OMIM:256550 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, D... |
ORPHA:42 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Edema |
OMIM:610158 |
Osteogenesis Imperfecta |
|
Aortic regurgitation, Short stature, Rhizomelia, Cerebral hemorrhage, Cutis laxa, Growth delay, A... |
ORPHA:666 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Eosinophilia, Subarachnoid hemorrhage, Growth delay, Decreased proportion of... |
OMIM:243700 |
Greenberg Dysplasia |
|
Rhizomelia, Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Inc... |
OMIM:215140 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... |
ORPHA:494424 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Pallor, Poikilocytosis, Fava bean-indu... |
OMIM:300908 |
Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Short stature, Pallor, Neutropenia |
OMIM:609053 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... |
OMIM:201475 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Elliptocytosis, Pallor |
OMIM:611804 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Short stature, Tricuspid stenosis, Thrombocytosis, Congenital hypoplastic anem... |
OMIM:105650 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Decreased liver function, Dehydration |
OMIM:602199 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Sp... |
ORPHA:565 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... |
OMIM:208540 |
Hydranencephaly |
|
Abnormal internal carotid artery morphology, Postnatal growth retardation, Dilatation of the vent... |
ORPHA:2177 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... |
ORPHA:331206 |
Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent foramen ovale |
OMIM:601005 |
Restrictive Dermopathy 1 |
|
Spontaneous chorioamniotic separation, Decreased fetal movement, Premature birth, Polyhydramnios,... |
OMIM:275210 |
Kagami-Ogata Syndrome |
|
Postnatal growth retardation, Large placenta, Premature birth, Polyhydramnios |
ORPHA:254519 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary... |
ORPHA:369929 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Thrombocytopenia, Splenomegaly, Abnormal lymph... |
ORPHA:464329 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Thrombocytopenia |
ORPHA:90045 |
Letterer-Siwe Disease |
|
Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... |
OMIM:617713 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Vascular Hyalinosis |
|
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage |
OMIM:277175 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased red... |
OMIM:194380 |
Aspergillosis |
|
Intracranial hemorrhage, Stroke, Eosinophilia, Neutropenia |
ORPHA:1163 |
Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:404 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia |
OMIM:616959 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Erythema, Reticulocytopenia, Hydrops fetali... |
OMIM:557000 |
Tarp Syndrome |
|
Subdural hemorrhage, Premature rupture of membranes, Neonatal death, Intrauterine growth retardat... |
OMIM:311900 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Short stature, Premature birth, Increased nuchal translucency, Fetal intraventricular hemorrhage,... |
OMIM:618480 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage |
ORPHA:251274 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Transient ischemic attack, Eosinophilia, Supraventricular arrhythmia, Pulmonary emb... |
ORPHA:3260 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr... |
ORPHA:99901 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Cardiomyopathy, Leukopenia, Neutropenia, Thrombocytopenia |
OMIM:251000 |
Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia |
ORPHA:54028 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Cardiac arrest, Leukocytosis, Dilated cardiomyopathy, Leukopenia, Prolonged prothrombin time, Pal... |
ORPHA:20 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Thrombocytopenia, Leukocytosis, Capillary leak, Intra... |
ORPHA:340 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Radial artery aplasia, Short stature, Nonimmune hydrops fetalis, Pure red... |
ORPHA:124 |
Beta-Ketothiolase Deficiency |
|
Leukocytosis, Hypertension, Pallor, Hypotension, Thrombocytosis |
ORPHA:134 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Leukopenia, Ecchymosis, Internal hemorrh... |
ORPHA:99827 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Pallor |
ORPHA:263455 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Occipital encephalocele, Asplenia, Large placenta, Patent ductus arteriosus, Sp... |
OMIM:249000 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Redundant neck skin, Short stature, Miscarriage, Premature birth, Polyhydramnios, Postnatal growt... |
ORPHA:96334 |
Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave |
ORPHA:231625 |
Danon Disease |
|
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... |
OMIM:300257 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
Cerebral Visual Impairment |
|
Intracranial hemorrhage, Ischemic stroke, Premature birth |
ORPHA:447788 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Von Hippel-Lindau Disease |
|
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... |
ORPHA:892 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Short stature, Anemic pallor, Thrombocytopenia, Reticulocytopenia, Neutropenia, Int... |
OMIM:227645 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Short stature, Anemic pallor, Thrombocytopenia, Reticulocytopenia, Neutropenia, Leu... |
OMIM:600901 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Tay-Sachs Disease |
|
Cherry red spot of the macula, Pallor |
OMIM:272800 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
Pituitary Apoplexy |
|
Hypertension, Normochromic anemia, Pallor, Hypotension |
ORPHA:95613 |
Sheehan Syndrome |
|
Orthostatic hypotension, Normochromic anemia, Palpitations, Pallor, Bradycardia, Dry skin |
ORPHA:91355 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Cone-Rod Dystrophy 8 |
|
Retinal arteriolar constriction, Pallor |
OMIM:605549 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Short stature, Anemic pallor, Thrombocytopenia, Reticulocytopenia, Neutropenia, Leu... |
OMIM:227650 |
Adenohypophysitis |
|
Orthostatic hypotension, Pallor, Normochromic anemia |
ORPHA:95512 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Pulmonary embolism, Megaloblastic anemia, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fe... |
ORPHA:79282 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:228308 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic ath... |
ORPHA:363618 |
Myopathy, Mitochondrial, And Ataxia |
|
Growth delay, Short stature, Pallor |
OMIM:617675 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Death in infancy, Hepatic melanin-like lysos... |
OMIM:208085 |
Non-Functioning Pituitary Adenoma |
|
Anemia of inadequate production, Pallor, Hypotension |
ORPHA:91349 |
Incontinentia Pigmenti |
|
Short stature, Eosinophilia, Leukocytosis, Erythema, Retinal hemorrhage, Pallor |
OMIM:308300 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cardiomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
ORPHA:465508 |
Panhypophysitis |
|
Orthostatic hypotension, Pallor, Normochromic anemia |
ORPHA:95513 |
Senior-Loken Syndrome 8 |
|
Pallor, Vascular dilatation |
OMIM:616307 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... |
OMIM:232300 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Pallor |
ORPHA:348 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Angina pectoris, Short stature, Telangiectasia, Intracranial hemorrhage, Arteriovenous malformati... |
ORPHA:109 |
Sickle Cell Disease |
|
Splenomegaly, Hepatomegaly, Retinopathy, Cardiomegaly |
OMIM:603903 |
Beckwith-Wiedemann Syndrome |
|
Premature birth, Redundant skin, Polyhydramnios, Splenomegaly, Large placenta, Subchorionic septa... |
ORPHA:116 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... |
ORPHA:308552 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
Degcags Syndrome |
|
Tachycardia, Pancytopenia, Premature birth, Polyhydramnios, Congenital hypoplastic anemia, Echoge... |
OMIM:619488 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
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Cardiomyopathy, Optic atrophy, Cardiomegaly |
OMIM:619259 |
Meningioma |
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Syncope, Cerebral hemorrhage |
ORPHA:2495 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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Short stature, Thrombocytopenia, Patent ductus arteriosus, Heart murmur, Intracranial hemorrhage,... |
ORPHA:163979 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
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Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper conce... |
OMIM:620306 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
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Elevated circulating creatine kinase concentration, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
Abetalipoproteinemia |
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Decreased HDL cholesterol concentration, Hepatomegaly, Abnormality of retinal pigmentation, Cardi... |
ORPHA:14 |
Fumarase Deficiency |
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Bilateral fetal pyelectasis, Polycythemia, Pallor, Polyhydramnios |
OMIM:606812 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Hemolytic anemia, Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortu... |
OMIM:175780 |
Sandhoff Disease |
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Hepatosplenomegaly, Hepatomegaly, Cherry red spot of the macula, Cardiomegaly |
OMIM:268800 |
Double Outlet Left Ventricle |
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Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Prolactinoma |
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Pallor, Hypotension, Delayed puberty |
ORPHA:2965 |
Autosomal Recessive Malignant Osteopetrosis |
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Splenomegaly, Pulmonary artery stenosis, Growth delay, Pallor, Pulmonary arterial hypertension, B... |
ORPHA:667 |
Beck-Fahrner Syndrome |
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Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Classic Homocystinuria |
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Gastrointestinal hemorrhage, Pulmonary embolism, Intracranial hemorrhage, Hypertension, Cerebral ... |
ORPHA:394 |
Amyloidosis, Hereditary, Transthyretin-Related |
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Cardiomyopathy, Amyloid deposition in the vitreous humor, Cardiomegaly |
OMIM:105210 |
Craniofaciofrontodigital Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
Alternating Hemiplegia Of Childhood |
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Cardiac conduction abnormality, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhythmia |
ORPHA:2131 |
Medullary Thyroid Carcinoma |
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Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Hyperhidrosis |
ORPHA:1332 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
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Cardiomegaly |
OMIM:613320 |
Complete Atrioventricular Septal Defect |
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Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Congenital Disorder Of Glycosylation, Type It |
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Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Card... |
OMIM:614921 |
Mogs-Cdg |
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Hepatomegaly, Cardiomegaly, Optic atrophy, Hepatosplenomegaly, Atrial septal defect, Left ventric... |
ORPHA:79330 |
Familial Aortic Dissection |
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Cardiomegaly |
ORPHA:229 |
Mosaic Trisomy 9 |
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Polyhydramnios, Asplenia, Patent ductus arteriosus, Hydrops fetalis, Abnormal liver lobulation, I... |
ORPHA:99776 |
Fanconi Anemia, Complementation Group D2 |
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Pancytopenia, Short stature, Anemic pallor, Thrombocytopenia, Patent ductus arteriosus, Reticuloc... |
OMIM:227646 |
Childhood Absence Epilepsy |
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Pallor |
ORPHA:64280 |
Hutchinson-Gilford Progeria Syndrome |
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Aortic regurgitation, Mitral stenosis, Angina pectoris, Left ventricular systolic dysfunction, My... |
ORPHA:740 |
Arterial Calcification, Generalized, Of Infancy, 1 |
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Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
Esophageal Atresia |
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Polyhydramnios, Coarctation of aorta, Growth delay, Pallor, Absence of stomach bubble on fetal so... |
ORPHA:1199 |
Tsh-Secreting Pituitary Adenoma |
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Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, D... |
ORPHA:91347 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
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Intracranial hemorrhage, Hypertension, Short stature |
ORPHA:90795 |
Loeys-Dietz Syndrome 3 |
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Tortuous cerebral arteries, Abdominal aortic aneurysm, Arterial tortuosity, Patent ductus arterio... |
OMIM:613795 |
Infection-Related Hemolytic Uremic Syndrome |
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Hemolytic anemia, Myocarditis, Leukocytosis, Thrombocytopenia, Hypertension, Pallor, Hypertensive... |
ORPHA:544482 |
Naxos Disease |
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Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
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Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... |
ORPHA:456312 |
Porphyria Cutanea Tarda |
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Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Portal inflammation, Ch... |
ORPHA:101330 |
Diaphanospondylodysostosis |
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Intrauterine growth retardation, Increased nuchal translucency, Abnormal liver lobulation, Oligoh... |
OMIM:608022 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Patent ductus arteriosus, Cerebral hemorrhage |
OMIM:616682 |
Familial Cerebral Cavernous Malformation |
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Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
Cockayne Syndrome Type 3 |
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Mild postnatal growth retardation, Splenomegaly, Subdural hemorrhage, Retinal hemorrhage, Cardiom... |
ORPHA:90324 |
Fucosidosis |
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Hepatomegaly, Cardiomegaly |
ORPHA:349 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
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Intrauterine growth retardation, Subdural hemorrhage, Short stature |
OMIM:619714 |
Dpagt1-Cdg |
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Prolonged QT interval, Decreased fetal movement, Fetal akinesia sequence, Stroke-like episode, In... |
ORPHA:86309 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Mucopolysaccharidosis Type 3 |
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Hepatomegaly, Cardiomegaly, Splenomegaly, Optic atrophy, Pigmentary retinopathy, Abnormal aortic ... |
ORPHA:581 |
Cantú Syndrome |
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Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Congenital Total Pulmonary Venous Return Anomaly |
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Low 5-minute APGAR score, Tachycardia, Tricuspid regurgitation, Right ventricular failure, Pulmon... |
ORPHA:99125 |
Glutaryl-Coa Dehydrogenase Deficiency |
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Subdural hemorrhage, Retinal hemorrhage |
ORPHA:25 |
Arachnoid Cyst |
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Encephalocele, Subarachnoid hemorrhage |
ORPHA:2356 |
Lethal Congenital Contracture Syndrome 10 |
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Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Viss Syndrome |
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Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Short stature, Arterial tortuosi... |
OMIM:619472 |
Nelson Syndrome |
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Intracranial hemorrhage, Hypertension, Striae distensae |
ORPHA:199244 |
Gaucher Disease, Perinatal Lethal |
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Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly |
OMIM:608013 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
Superficial Siderosis |
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Abnormal bleeding, Subarachnoid hemorrhage, Abnormal vertebral artery morphology, Arteriovenous m... |
ORPHA:247245 |
Lethal Acantholytic Erosive Disorder |
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Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... |
OMIM:602782 |
Fucosidosis |
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Splenomegaly, Hepatomegaly, Cherry red spot of the macula, Cardiomegaly |
OMIM:230000 |
Acute Liver Failure |
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Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Intracranial hemorrhage, Prolonged prothro... |
ORPHA:90062 |
Multiple Endocrine Neoplasia Type 2 |
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Pallor, Palpitations, Hypertensive crisis, Hypertension associated with pheochromocytoma |
ORPHA:653 |
Medulloblastoma |
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Cerebellar hemorrhage |
ORPHA:616 |
Absence Of The Pulmonary Artery |
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Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
Truncus Arteriosus |
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Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Developmental And Epileptic Encephalopathy 95 |
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Hepatomegaly, Cardiomegaly |
OMIM:618143 |
Congenital Tracheomalacia |
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Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
Bohring-Opitz Syndrome |
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Abnormal cardiac septum morphology, Optic atrophy, Retinal atrophy, Cardiomegaly |
ORPHA:97297 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Unconjugated hyperbiliru... |
OMIM:618278 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
Mucolipidosis Ii Alpha/Beta |
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Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Hypertrophic cardi... |
OMIM:252500 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
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Cardiomegaly |
ORPHA:2463 |
Witteveen-Kolk Syndrome |
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Branchial fistula, Short stature, Polyhydramnios, Intracranial hemorrhage, Growth delay, Intraute... |
OMIM:613406 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... |
ORPHA:365 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
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Intracranial hemorrhage |
ORPHA:91350 |
Liver Disease, Severe Congenital |
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Hyponatremia, Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Elevated circulat... |
OMIM:619991 |
Goodpasture Syndrome |
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Pallor, Anemia, Pulmonary hemorrhage |
OMIM:233450 |
Tropical Endomyocardial Fibrosis |
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Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... |
OMIM:300967 |
Ogden Syndrome |
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Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... |
OMIM:300855 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Cardiomegaly |
ORPHA:79280 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
Acute Transverse Myelitis |
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Hypertension, Orthostatic hypotension, Subarachnoid hemorrhage |
ORPHA:139417 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney |
OMIM:130650 |
Sarcoidosis |
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Hepatomegaly, Hyperthyroidism, Portal hypertension, Abnormal liver parenchyma morphology, Joint s... |
ORPHA:797 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Pallor |
OMIM:253280 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating... |
OMIM:256040 |
Generalized Arterial Calcification Of Infancy |
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Ventricular hypertrophy, Choroidal neovascularization, Cardiomegaly, Pericardial effusion, Abnorm... |
ORPHA:51608 |
Williams Syndrome |
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Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Hypercalcemia, Elevated... |
ORPHA:904 |
Aicardi-Goutières Syndrome |
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Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:51 |
Yunis-Varon Syndrome |
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Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot |
ORPHA:3472 |
Singleton-Merten Syndrome 1 |
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Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |
Pmm2-Cdg |
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Pericarditis, Angina pectoris, Intracranial hemorrhage, Impaired neutrophil chemotaxis, Hypertrop... |
ORPHA:79318 |