| Aneurysm, Intracranial Berry, 12 |
|
Fusiform cerebral aneurysm, Arterial fibromuscular dysplasia, Cerebral berry aneurysm, Subarachno... |
OMIM:618734 |
| Danubian Endemic Familial Nephropathy |
|
Nephropathy |
OMIM:124100 |
| Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
| Aneurysm, Intracranial Berry, 1 |
|
Dilatation of the cerebral artery, Intracranial hemorrhage |
OMIM:105800 |
| Circumvallate Placenta Syndrome |
|
Polyhydramnios, Intracranial hemorrhage |
OMIM:215550 |
| Aneurysm, Intracranial Berry, 2 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage |
OMIM:608542 |
| Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Micrognathia, Right aortic arch, Transp... |
OMIM:231060 |
| Internal Carotid Absence |
|
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia |
ORPHA:981 |
| Hydrops Fetalis, Nonimmune |
|
Nonimmune hydrops fetalis, Hydrops fetalis, Congestive heart failure |
OMIM:236750 |
| Nuchal Bleb, Familial |
|
Hydrops fetalis, Stillbirth, Fetal cystic hygroma |
OMIM:257350 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Right aortic arch, Hypoplastic pulmonary veins, Ventricular septal... |
OMIM:613854 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Splenomegaly, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells... |
OMIM:613673 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Ventricular septal defect, Transposition of the great arteries, Bi... |
OMIM:613751 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis, Double outlet right ventricle, Patent ductus arteriosus, 2-3 toe syndactyly, Wide nasal... |
ORPHA:3304 |
| Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Ventricular septal defect, Abnormal mitral valve morphology... |
ORPHA:1354 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Pallor, Poikilocytosis, Anisocytosis, A... |
OMIM:615631 |
| Retinopathy Of Prematurity |
|
Vitreous hemorrhage, Tractional retinal detachment, Abnormal macular morphology, Retinal arteriol... |
ORPHA:90050 |
| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Hydrops fetalis, Reticulocytosis, Poikilocytosis, Abnormal e... |
ORPHA:766 |
| Fetal Parvovirus Syndrome |
|
Anemia, Hydrops fetalis, Hypertrophic cardiomyopathy, Ascites, Thrombocytopenia, Increased nuchal... |
ORPHA:295 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hydrops fetalis, Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythrop... |
OMIM:224120 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Hemolytic-uremic syndrome, Prolonged neonatal jaundice, Transient ischemic attack, Jaundice, Micr... |
OMIM:274150 |
| Familial Afibrinogenemia |
|
Cerebral hemorrhage, Abnormal bleeding, Miscarriage, Epistaxis, Gingival bleeding, Joint swelling |
ORPHA:98880 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Petechiae, Bruising susceptibility, Poikilocytosis, Epistaxis, Congenital thrombocytopenia, Anemi... |
OMIM:300367 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect |
OMIM:601127 |
| Well-Differentiated Liposarcoma |
|
Abnormal renal physiology |
ORPHA:99971 |
| Bernard-Soulier Syndrome |
|
Giant platelets, Abnormal bleeding, Purpura, Epistaxis, Impaired ristocetin-induced platelet aggr... |
OMIM:231200 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... |
OMIM:312700 |
| Glanzmann Thrombasthenia 1 |
|
Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Purpura, Int... |
OMIM:273800 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia, Purpur... |
OMIM:235400 |
| Indomethacin Embryofetopathy |
|
Multicystic kidney dysplasia, Hydrops fetalis, Abnormal renal tubule morphology, Oligohydramnios,... |
ORPHA:1909 |
| Dehydrated Hereditary Stomatocytosis |
|
Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Congenital hemolytic ... |
ORPHA:3202 |
| Transaldolase Deficiency |
|
Anemia, Telangiectasia, Hydrops fetalis, Abnormality of the kidney, Premature skin wrinkling, Hep... |
ORPHA:101028 |
| Fibronectin Glomerulopathy |
|
Glomerulopathy, Pedal edema, Renal insufficiency, Cerebral hemorrhage, Nephrotic syndrome, Hypert... |
ORPHA:84090 |
| Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Cerebral cavernous malformation |
OMIM:116860 |
| Diffuse Neonatal Hemangiomatosis |
|
Patent ductus arteriosus, Polyhydramnios, Anemia, Hydrops fetalis, Renal hypoplasia/aplasia, Thro... |
ORPHA:2123 |
| Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Retinal hemorrhage, Supraventricular arrhythmia, Retinal arteriolar tortuosity, Hematuria, Raynau... |
OMIM:611773 |
| Familial Drusen |
|
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... |
ORPHA:75376 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Patent ductus arteriosus, Ventricular septal defect, Vascular ring, Hydrocele testis, Atrial sept... |
OMIM:601927 |
| Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Telangiectasia, Cerebral hemorrhage |
OMIM:603284 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Abnormal hand morphology, Short 5th metacarpal, Bicuspid aortic valve, ... |
ORPHA:228190 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Petechiae, Bruising susceptibility, Reticulocytosis, Epistaxis, I... |
OMIM:314050 |
| Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Anemia, Hematuria, Purpura, Proteinuria, Renal insufficiency, Vasculitis |
ORPHA:375 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Double aortic arch, Pulmonary... |
OMIM:618780 |
| Conotruncal Heart Malformations |
|
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Broad hallux, Complete a... |
OMIM:217095 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Post-partum hemorrhage, Pallor, Abnormal erythrocyte morphology, Poikilocytosis, Oral cav... |
ORPHA:98870 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F, Pallor |
ORPHA:46532 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect |
OMIM:212090 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Genu varum, Convex nasal ridge, Mandibular prognathia, Arteriovenous malformation, Abnormal aorti... |
ORPHA:1110 |
| Tricuspid Atresia |
|
Cyanosis, Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, A... |
ORPHA:1209 |
| Hb Bart'S Hydrops Fetalis |
|
Polyhydramnios, Anemia, Hydrops fetalis, Congestive heart failure, Pallor, Pericarditis, Oligohyd... |
ORPHA:163596 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia, Purpura |
ORPHA:529 |
| Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Anemia, Steroid-responsive anemia |
OMIM:618312 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Petechiae, Abnormal bleeding, Impaired platelet aggregation, Thrombocytopenia, Giant plat... |
OMIM:187800 |
| Immune Thrombocytopenia |
|
Cerebral hemorrhage, Petechiae, Purpura, Bruising susceptibility, Epistaxis, Gingival bleeding, G... |
ORPHA:3002 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormal aortic morphology, Ventricular septal defect, Micrognathia, Abnormality of the pulmonary... |
ORPHA:1166 |
| Long Qt Syndrome 3 |
|
Sudden cardiac death, Torsade de pointes, Hydrops fetalis, Syncope, Nonimmune hydrops fetalis, Ve... |
OMIM:603830 |
| Afibrinogenemia, Congenital |
|
Death in infancy, Epidural hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Brui... |
OMIM:202400 |
| Cerebral Amyloid Angiopathy, Cst3-Related |
|
Stroke, Intracranial hemorrhage, Cerebral hemorrhage |
OMIM:105150 |
| Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Hydrops fetalis, Reduced left ventricular ejection fraction, Abnorm... |
ORPHA:45452 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Abnormal bleeding, Eryt... |
ORPHA:86841 |
| Thrombocytopenia 5 |
|
Anemia, Petechiae, Bruising susceptibility, Epistaxis, Thrombocytopenia, Neutropenia |
OMIM:616216 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Short toe, Short 5th metacarpal, Bicuspid aortic valve, Short finger, C... |
OMIM:604381 |
| Skraban-Deardorff Syndrome |
|
Ventricular septal defect, Micrognathia, Hyperplasia of the maxilla, Depressed nasal bridge, Ante... |
OMIM:617616 |
| Ciliary Dyskinesia, Primary, 40 |
|
Patent ductus arteriosus, Atrioventricular canal defect, Congenitally corrected transposition of ... |
OMIM:618300 |
| Preeclampsia/Eclampsia 1 |
|
Hypertension, Maternal hypertension, Edema, Thrombocytopenia, Preeclampsia, Proteinuria, Eclampsia |
OMIM:189800 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Abnormal bleeding, Epistaxis, Thrombocytopenia, Menorrhagia, Macrothrombocytopenia, Spont... |
OMIM:616176 |
| Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia, Bruising susceptibility |
OMIM:188000 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Tran... |
OMIM:616749 |
| Pseudoxanthoma Elasticum |
|
Retinal hemorrhage, Restrictive cardiomyopathy, Retinal peau d'orange, Optic disc drusen, Angioid... |
OMIM:264800 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Polyhydramnios, Hydrops fetalis, Fetal pleural effusion, Fetal ascites, Fetal pericardial effusion |
OMIM:619462 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Pulmonary insufficiency, Hydrops fetalis, Death in infancy, Ascites, ... |
OMIM:619433 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Petechiae, Abnormal bleeding, Purpura, Hematuria, Intracranial hemorrhage, Ecchymosis, Neonatal a... |
ORPHA:853 |
| Diamond-Blackfan Anemia-Like |
|
Pure red cell aplasia, Steroid-responsive anemia |
OMIM:617911 |
| Acute Myelomonocytic Leukemia |
|
Anemia, Abnormal bleeding, Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia |
ORPHA:517 |
| Abetal34V Amyloidosis |
|
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology |
ORPHA:324703 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
| Truncus Arteriosus |
|
Cyanosis, Hypoplasia of the thymus, Truncus arteriosus, Pulmonary hypoplasia, Aplasia/hypoplasia ... |
ORPHA:3384 |
| Nephrotic Syndrome, Type 26 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:620049 |
| Coronary Arterial Fistula |
|
Systolic heart murmur, Angina pectoris, Abnormal left ventricular function, Palpitations, Patent ... |
ORPHA:2041 |
| Lethal Congenital Contracture Syndrome 10 |
|
Convex nasal ridge, Hypoplasia of the thymus, Ventricular septal defect, Short long bone, Microgn... |
OMIM:617022 |
| Aorta Coarctation |
|
Patent ductus arteriosus, Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspi... |
ORPHA:1457 |
| Primary Myelofibrosis |
|
Anemia, Petechiae, Abnormal bleeding, Purpura, Pancytopenia, Ecchymosis, Pallor, Hepatosplenomega... |
ORPHA:824 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... |
OMIM:617205 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Hemoglobinuria, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Pall... |
OMIM:300908 |
| Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Purpura, Mesangial ... |
OMIM:613496 |
| Bleeding Disorder, Platelet-Type, 11 |
|
Bruising susceptibility, Ecchymosis, Epistaxis, Abnormal platelet count, Impaired collagen-induce... |
OMIM:614201 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... |
OMIM:615779 |
| Atrioventricular Septal Defect 5 |
|
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... |
OMIM:614779 |
| Developmental And Epileptic Encephalopathy 50 |
|
Anemia, Renal tubular acidosis, Anisopoikilocytosis, Schistocytosis, Acanthocytosis |
OMIM:616457 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
2-3 toe syndactyly, Short 5th finger, Ventricular septal defect, Congenital lobar overinflation, ... |
OMIM:600987 |
| Acute Peripheral Arterial Occlusion |
|
Supraventricular tachycardia, Pallor, Myocardial infarction, Abnormality of venous physiology, Le... |
ORPHA:90064 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Gombo Syndrome |
|
Clinodactyly, Delayed puberty, Radial deviation of finger, Abnormal heart morphology, Brachydactyly |
OMIM:233270 |
| Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Bronchiectasis, Chronic rhinitis, Situs inversus totalis, Dextrocardia, Right aor... |
OMIM:617577 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Anomalous origin of left pulmonary artery from ascending aorta, Cyanosis, Arteria lusoria, Patent... |
ORPHA:99050 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Splenomegaly, Hepatomegaly |
OMIM:619175 |
| Glanzmann Thrombasthenia |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired collagen-related peptide-induced... |
ORPHA:849 |
| Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia, Abnormal bleeding |
OMIM:188030 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Left superior ven... |
OMIM:619702 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia, Bruising susceptibility |
OMIM:614200 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic-uremic syndrome, Hemolytic anemia, Nephrotic syndrome, Acute kidney injury, Stage 5 chr... |
OMIM:615008 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Abnormality of thrombocytes, Asplenia, Anemia, Purpura |
ORPHA:3204 |
| Pulmonary Atresia With Intact Ventricular Septum |
|
Hypoplastic right heart, Pulmonary artery atresia |
OMIM:265150 |
| Klippel-Trénaunay Syndrome |
|
Patent ductus arteriosus, Pulmonary embolism, Hydrops fetalis, Hematuria, Congestive heart failur... |
ORPHA:90308 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Large hyperpigmented retinal spots, Posterior retinal neovascularization, Vitreous hemorrhage, Pe... |
OMIM:193235 |
| Nephrotic Syndrome, Type 10 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Steroid-resistant nephrotic ... |
OMIM:615861 |
| Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
| Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Podocyte foot process effacement, Focal segmental glomeruloscle... |
OMIM:619263 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... |
OMIM:617912 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem... |
OMIM:153670 |
| Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Micrognathia, Clinodactyly of the 5th finger, Depressed nasal bridge, ... |
ORPHA:1918 |
| Tufted Angioma |
|
Anemia, Thrombocytopenia, Purpura, Petechiae |
ORPHA:1063 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Petechiae, Impaired epinephrine-induced platelet aggregation, Abnormal bleeding, Bruising suscept... |
OMIM:187900 |
| Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hepatomegaly, Hypercholesterolemia |
OMIM:232700 |
| Evans Syndrome |
|
Petechiae, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Syncope, Bruising susc... |
ORPHA:1959 |
| Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
| Retinal Capillary Malformation |
|
Vitreous hemorrhage, Retinal exudate, Central fundal arteriolar microaneurysms, Vitreous floaters... |
ORPHA:71213 |
| Acute Promyelocytic Leukemia |
|
Leukopenia, Anemia, Petechiae, Hematuria, Purpura, Bruising susceptibility, Diffuse alveolar hemo... |
ORPHA:520 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Truncus arteriosus, Wide nasal bridge, Ventricular septal defect, Atrial septal defect, Short nos... |
ORPHA:401935 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Wide nose, Patent foramen ovale, Double outlet right ventricle, 2-3 toe syndactyly, Ventricular s... |
ORPHA:477817 |
| Central Retinal Vein Occlusion |
|
Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne... |
ORPHA:411527 |
| Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
| Lipoprotein Glomerulopathy |
|
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria |
OMIM:611771 |
| Hydrops Fetalis |
|
Polyhydramnios, Lymphedema, Pericardial effusion, Abnormality of the kidney, Increased placental ... |
ORPHA:1041 |
| Fetal Gaucher Disease |
|
Fetal akinesia sequence, Hydrops fetalis, Death in infancy, Decreased fetal movement, Intracrania... |
ORPHA:85212 |
| Pseudoxanthoma Elasticum |
|
Sudden cardiac death, Retinal hemorrhage, Restrictive cardiomyopathy, Retinopathy, Vascular dilat... |
ORPHA:758 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Hydrocele testis, Adducted thumb, Muscular ventricular septal defect, Single transverse palmar cr... |
OMIM:620062 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Abno... |
ORPHA:75564 |
| Reversible Cerebral Vasoconstriction Syndrome |
|
Cerebral edema, Abnormal cerebral artery morphology, Ischemic stroke, Cerebral hemorrhage, Transi... |
ORPHA:284388 |
| Megaloblastic Anemia, Folate-Responsive |
|
Episodic hemolytic anemia, Schistocytosis, Hypersegmentation of neutrophil nuclei, Folate-respons... |
OMIM:601775 |
| Oculorenocerebellar Syndrome |
|
Retinal degeneration, Nephropathy, Glomerular sclerosis |
OMIM:257970 |
| Congenital Factor V Deficiency |
|
Persistent bleeding after trauma, Post-partum hemorrhage, Hematuria, Intracranial hemorrhage, Bru... |
ORPHA:326 |
| Snakebite Envenomation |
|
Hypotension, Cerebral ischemia, Acute kidney injury, Cardiogenic shock, Abnormal bleeding, Intrac... |
ORPHA:449285 |
| Cardiomyopathy, Dilated, 2G |
|
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... |
OMIM:619897 |
| Familial Dilated Cardiomyopathy |
|
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... |
ORPHA:217607 |
| Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Maternal diabetes, Abnormal tricuspid valve morphology, Patent ductus a... |
ORPHA:1208 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal platelet function, Abnormal bleeding, Thrombocytopenia, Abnormal hemoglobin, Spl... |
ORPHA:231393 |
| 14Q11.2 Microdeletion Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Toe syndactyly, Micrognathia, Short nose, De... |
ORPHA:261120 |
| Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Macular hemorrhage, Macular degeneration, Choroidal neovascularization, Foveal hy... |
OMIM:603075 |
| Rh Deficiency Syndrome |
|
Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatosplenomegaly, Miscarriage, Ani... |
ORPHA:71275 |
| Factor Vii Deficiency |
|
Abnormal bleeding, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Menorrhagia, Prol... |
OMIM:227500 |
| Johnson Neuroectodermal Syndrome |
|
Retrognathia, Patent ductus arteriosus, Choanal stenosis, Ventricular septal defect, Decreased te... |
OMIM:147770 |
| Focal Segmental Glomerulosclerosis 8 |
|
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:616032 |
| Hemochromatosis, Type 3 |
|
Anemia, Purpura, Lymphopenia, Neutropenia, Cardiomyopathy |
OMIM:604250 |
| Alpha-Thalassemia |
|
Anemia, Hydrops fetalis, Hemolytic anemia, Hypersplenism, Jaundice, Abnormal hemoglobin, Splenome... |
ORPHA:846 |
| Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Aminoaciduria, B lymphocytopenia, Sideroblastic anemia, Hypochromic microcytic anemia, Schistocyt... |
OMIM:616084 |
| Exudative Vitreoretinopathy 1 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Retinal exudate,... |
OMIM:133780 |
| Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Short toe, Short 5th metacarpal, Perimembranous ventricular septal defect, Clin... |
OMIM:617877 |
| Polycystic Kidney Disease 7 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,... |
OMIM:620056 |
| Velocardiofacial Syndrome |
|
Retrognathia, Underdeveloped nasal alae, Ventricular septal defect, Interrupted aortic arch, Doub... |
OMIM:192430 |
| Birdshot Chorioretinopathy |
|
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... |
ORPHA:179 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Systolic heart murmur, Supraventricular arrhythmia, Premature atrial contractions, Palpitations, ... |
ORPHA:99105 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Azoospermia, Poikilocytosis, Decreased mean corpuscular volume, Pallor, Hypochromia, Sple... |
OMIM:615234 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Wide nasal bridge, Pulmonary hypoplasia, Overlapping toe, Cutaneous syndactyly, Patent foramen ov... |
OMIM:618316 |
| Familial Cervical Artery Dissection |
|
Cerebral ischemia, Transient ischemic attack, Arterial fibromuscular dysplasia, Hypertension, Str... |
ORPHA:36382 |
| Hemophilia A |
|
Intracranial hemorrhage, Bleeding with minor or no trauma, Oral cavity bleeding, Joint swelling, ... |
ORPHA:98878 |
| Familial Exudative Vitreoretinopathy |
|
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... |
ORPHA:891 |
| Sandestig-Stefanova Syndrome |
|
Retrognathia, Convex nasal ridge, Wide nasal bridge, Perimembranous ventricular septal defect, Cl... |
OMIM:618804 |
| Congenital Factor Xiii Deficiency |
|
Subcutaneous hemorrhage, Bleeding with minor or no trauma, Oral cavity bleeding, Umbilical cord h... |
ORPHA:331 |
| Congenital Factor Vii Deficiency |
|
Post-partum hemorrhage, Abnormality of the umbilical cord, Intracranial hemorrhage, Bruising susc... |
ORPHA:327 |
| Congenital Factor Ii Deficiency |
|
Joint hemorrhage, Post-partum hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, I... |
ORPHA:325 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen... |
OMIM:601331 |
| Recombinant Chromosome 8 Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Joint contrac... |
OMIM:179613 |
| Microphthalmia, Syndromic 9 |
|
Patent ductus arteriosus, Truncus arteriosus, Wide nasal bridge, Ventricular septal defect, Bilat... |
OMIM:601186 |
| Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis |
OMIM:614224 |
| Iron-Refractory Iron Deficiency Anemia |
|
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis |
OMIM:206200 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Fetal akinesia sequence, Hydrops fetalis, Death in infancy, Dilated cardiomyopathy, Hypertrophic ... |
OMIM:618815 |
| Factor Xiii, A Subunit, Deficiency Of |
|
Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Abnormal bleeding, Intracran... |
OMIM:613225 |
| Adams-Oliver Syndrome 4 |
|
Aplasia of the distal phalanges of the toes, Short toe, Patent ductus arteriosus, Ventricular sep... |
OMIM:615297 |
| Autosomal Dominant Coarctation Of Aorta |
|
Patent ductus arteriosus, Aortic arch aneurysm, Ventricular septal defect, Abnormal aortic arch m... |
ORPHA:1455 |
| Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricular hypertrophy, Brad... |
OMIM:614022 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia, Pallor |
ORPHA:228312 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Cyanosis, Truncus arteriosus, Ventricular septal defect, Interrupted aortic arch, Atrial septal d... |
OMIM:617478 |
| Nephrotic Syndrome, Type 13 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:616893 |
| Complement Component 4A Deficiency |
|
Glomerulonephritis, Purpura, Cutaneous photosensitivity, Vasculitis |
OMIM:614380 |
| Overhydrated Hereditary Stomatocytosis |
|
Intermittent jaundice, Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... |
ORPHA:3203 |
| Lymphatic Malformation 8 |
|
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Stillbirth, Ge... |
OMIM:618773 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Vascular ring, Postaxial polydactyly, Ventricular septal defect, Atrial septal defect |
OMIM:603387 |
| Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits |
ORPHA:69063 |
| Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Petechiae, Spontaneous, recurrent epistaxis, Giant plate... |
ORPHA:274 |
| Orotic Aciduria |
|
Pyrimidine-responsive megaloblastic anemia, Hematuria, Poikilocytosis, Oroticaciduria, Anisocytos... |
OMIM:258900 |
| Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Decreased response to growth hormone stimulation test, Ventricular... |
OMIM:220210 |
| Neurodevelopmental Disorder With Poor Growth, Spastic Tetraplegia, And Hearing Loss |
|
Micrognathia, Long nasal bridge, Muscular ventricular septal defect, Macrocytic anemia, Cryptorch... |
OMIM:620071 |
| Atypical Hemolytic Uremic Syndrome |
|
Acute kidney injury, Microangiopathic hemolytic anemia, Hematuria, Thrombocytopenia, Proteinuria |
ORPHA:2134 |
| Nephrotic Syndrome, Type 23 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper... |
OMIM:619201 |
| Waldenström Macroglobulinemia |
|
Retinal hemorrhage, Pedal edema, Leukemia, Normocytic anemia, Purpura, Congestive heart failure, ... |
ORPHA:33226 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Anisocytosis, Renal hypoplasia, Death... |
OMIM:604273 |
| Focal Segmental Glomerulosclerosis 2 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Hypertension, Proteinuria, Focal segmental gl... |
OMIM:603965 |
| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Bardet-Biedl Syndrome 10 |
|
Renal cyst, Renal insufficiency, Rod-cone dystrophy, Retinal dystrophy |
OMIM:615987 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Megaloblastic anemia, Cardiac arrest, Congestive heart failure, St... |
ORPHA:49827 |
| Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Heart murmur, Elevated jugular venous pressure, Syncope, Palpita... |
ORPHA:422 |
| Eales Disease |
|
Vitreous hemorrhage, Tractional retinal detachment, Ischemic stroke, Macular edema, Vitritis, Tra... |
ORPHA:40923 |
| Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... |
OMIM:616002 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary arterial hypertension, Nonimmune hydrops fetalis, Lacticaciduria, Elevated urinary 4-hy... |
OMIM:619003 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Retinal hemorrhage, Cerebral hemorrhage, Angioid streaks of the fundus, Premature occlusive vascu... |
OMIM:177850 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Tapered finger, Wide nasal bridge, Pericardial effusion, Micrognathia, Aortic aneurysm, Atrial se... |
OMIM:620070 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Stage 5 chronic kidney disease, Nephrotic syndrome, Pro... |
OMIM:601894 |
| Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly |
ORPHA:294 |
| Iga Nephropathy, Susceptibility To, 1 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephri... |
OMIM:161950 |
| Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Anisopoikilocytosis, Abnormal bleeding, Abnormal hemoglobin concentration, ... |
ORPHA:35858 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Anuria, Acute kidney injury, Hemoglobinuria, Microangiopathic hemolytic anemia, Hypertension, Ret... |
ORPHA:90038 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Purpura, Cerebral hemorrhage |
OMIM:614514 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Macrocytic anemia, T... |
OMIM:300835 |
| Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Vitreous hemorrhage, Purpura |
OMIM:612304 |
| Ventricular Septal Defect 1 |
|
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... |
OMIM:614429 |
| Nephrotic Syndrome, Type 18 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:618177 |
| Nephrotic Syndrome, Type 19 |
|
Stage 3 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic s... |
OMIM:618178 |
| Nephrotic Syndrome, Type 20 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:301028 |
| Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
| Sonoda Syndrome |
|
Depressed nasal bridge, High axial triradius, Ventricular septal defect |
OMIM:270460 |
| Acquired Purpura Fulminans |
|
Macular purpura, Pyoderma gangrenosum, Acrocyanosis, Intracranial hemorrhage, Internal hemorrhage... |
ORPHA:49566 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia, Recurrent lower respiratory tract infections, Bronch... |
OMIM:618254 |
| Double Outlet Right Ventricle |
|
Cyanosis, Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Aplasia/H... |
ORPHA:3426 |
| Maternal Phenylketonuria |
|
Double outlet right ventricle, Bifid distal phalanx of the thumb, Ventricular septal defect, Wide... |
ORPHA:2209 |
| Moderate Hemophilia A |
|
Subcutaneous hemorrhage, Epidural hemorrhage, Hematuria, Intracranial hemorrhage, Abnormal bleedi... |
ORPHA:169805 |
| Exudative Vitreoretinopathy 4 |
|
Exudative vitreoretinopathy, Vitreous hemorrhage, Tractional retinal detachment, Posterior vitreo... |
OMIM:601813 |
| Breath-Holding Spells |
|
Cyanosis, Iron deficiency anemia, Pallor |
OMIM:607578 |
| Abeta Amyloidosis, Iowa Type |
|
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology |
ORPHA:324708 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Retrognathia, Dental malocclusion, Patent ductus arteriosus, Perimembranous ventricular septal de... |
ORPHA:363444 |
| 16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Hand polydactyly, Atrial septal defect, Coarctation of aorta, Arachnod... |
ORPHA:261243 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Subvalvular aortic stenosis, 2-3 toe syndactyly, 2-3 finger syndactyly, Coarctation of aorta, Bro... |
OMIM:217085 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal hemorrhage, Telangiectasia, Macular edema, Retinal exudate, Punctate vasculitis skin lesi... |
OMIM:192315 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Howell-Jo... |
OMIM:613759 |
| Peripartum Cardiomyopathy |
|
Sinus tachycardia, Cardiogenic shock, Palpitations, Elevated jugular venous pressure, Abnormal at... |
ORPHA:563 |
| Acitretin/Etretinate Embryopathy |
|
Aplasia/Hypoplasia of the maxilla, Atrioventricular canal defect, Conotruncal defect, Hypoplasia ... |
ORPHA:40366 |
| Drug-Induced Lupus Erythematosus |
|
Anemia, Petechiae, Pericardial effusion, Hematuria, Pericarditis, Thrombocytopenia, Prolonged QTc... |
ORPHA:231111 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Reduced proximal interphalangeal joint space, Abnormal palmar dermatoglyphics, Finger syndactyly,... |
ORPHA:3246 |
| Sepsis In Premature Infants |
|
Hypotension, Cyanosis, Splenomegaly, Anemia, Premature birth, Caesarian section, Petechiae, Jaund... |
ORPHA:90051 |
| Congenital Rubella Syndrome |
|
Patent ductus arteriosus, Anemia, Ventricular septal defect, Jaundice, Abnormality of the pulmona... |
ORPHA:290 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Abnormality of the kidney, Impaired ADP-induced platelet aggregation, Abnormal bleeding, Impaired... |
OMIM:155100 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, A... |
OMIM:616860 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Premature birth, Umbilical cord hematoma, Hemoperitoneum, Subcutaneous hemorrhage, Post-partum he... |
ORPHA:465 |
| Chromosome 9P Deletion Syndrome |
|
Retrognathia, Patent ductus arteriosus, Hallux varus, Tapered finger, Ventricular septal defect, ... |
OMIM:158170 |
| Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:613124 |
| Familial Cerebral Saccular Aneurysm |
|
Aortic root aneurysm, Transient ischemic attack, Atherosclerosis, Intracranial hemorrhage, Hypert... |
ORPHA:231160 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:144300 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormality of thrombocytes, Anemia, Petechiae, Abnormal bleeding, Hepatosplenomegaly, Epistaxis,... |
OMIM:612840 |
| Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Abnormal bleeding, Bruising susceptibility, Epistaxis, Thrombocytope... |
ORPHA:721 |
| X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia |
ORPHA:2802 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Petechiae, Nephrotic syndrome, Coombs-positive hemolytic anemia, Neutrope... |
OMIM:603909 |
| Refractory Anemia |
|
Abnormal cardiac ventricular function, Neutropenia, Normocytic anemia, Abnormal bleeding, Erythro... |
ORPHA:98826 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Elliptocytosis, Poikilocytosis, Pallor, Anisocytosis, Decreased mean corpuscular volume |
OMIM:616959 |
| Scimitar Syndrome |
|
Pneumothorax, Truncus arteriosus, Pulmonary hypoplasia, Abnormal vena cava morphology, Double out... |
ORPHA:185 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Patent ductus arteriosus, Ventricular septal defect, Abnormal mitral valve morphology, ... |
ORPHA:860 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Subcutaneous hemorrhage |
ORPHA:1980 |
| Idiopathic Aplastic Anemia |
|
Retinal hemorrhage, Anemia, Reticulocytopenia, Pancytopenia, Ecchymosis, Epistaxis, Gingival blee... |
ORPHA:88 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Stage 5 chronic kidney disease, Nephropa... |
OMIM:137950 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Hemothorax, Persistent bleeding after trauma, Abnormal umbilical stump bleeding, Hematuria, Abnor... |
ORPHA:79 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Asplenia, Ventricular septal defect, Common atrium, Polysplenia, Abnormal... |
OMIM:208530 |
| Focal Segmental Glomerulosclerosis 9 |
|
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis |
OMIM:616220 |
| Hemophilia B |
|
Spontaneous, recurrent epistaxis, Hematuria, Intracranial hemorrhage, Delayed onset bleeding, Cep... |
ORPHA:98879 |
| Severe Hemophilia A |
|
Persistent bleeding after trauma, Epidural hemorrhage, Intracranial hemorrhage, Bruising suscepti... |
ORPHA:169802 |
| Lymphatic Malformation 12 |
|
Polyhydramnios, Lymphedema, Fetal pleural effusion, Nonimmune hydrops fetalis, Fetal ascites, Fet... |
OMIM:620014 |
| 17Q21.31 Microduplication Syndrome |
|
Toe syndactyly, Micrognathia, Clinodactyly of the 5th finger, Short nose, Delayed puberty, Sandal... |
ORPHA:217340 |
| Livedoid Vasculopathy |
|
Macular purpura, Pedal edema, Anemia, Ischemic stroke, Abnormal capillary morphology, Skin ulcer,... |
ORPHA:542643 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat... |
OMIM:620135 |
| Meacham Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Cardiac total anomalous pulmonary venous con... |
OMIM:608978 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Abnormal renal cortex morphology, Retinal hemorrhage, Vitreous hemorrhage, Hip contracture, Cereb... |
ORPHA:464321 |
| Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Bruising susceptibility, Mitral valve prolapse, Striae distensae, Petechiae |
OMIM:225310 |
| Focal Segmental Glomerulosclerosis 5 |
|
Stage 5 chronic kidney disease, Hypertension, Proteinuria, Focal segmental glomerulosclerosis, Mi... |
OMIM:613237 |
| Focal Segmental Glomerulosclerosis 10 |
|
Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien... |
OMIM:256020 |
| Nephrotic Syndrome, Type 4 |
|
Nephroblastoma, Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency, Focal segme... |
OMIM:256370 |
| C3 Glomerulopathy 3 |
|
Mesangial matrix expansion, Stage 5 chronic kidney disease, Thickening of glomerular capillary wa... |
OMIM:614809 |
| Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:617783 |
| Catel-Manzke Syndrome |
|
Micrognathia, Camptodactyly, Short femur, Hyperphalangy of the 2nd finger, Ulnar deviation of the... |
OMIM:616145 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Moyamoya phenomenon, Abnormal cerebral vascular morphology, Raynaud phenomenon, Cutis marmorata, ... |
ORPHA:401945 |
| Pseudo-Torch Syndrome 1 |
|
Patent ductus arteriosus, Patent foramen ovale, Petechiae, Jaundice, Microretrognathia, Anteverte... |
OMIM:251290 |
| Nephrotic Syndrome, Type 21 |
|
Stage 5 chronic kidney disease, Podocyte foot process effacement, Steroid-resistant nephrotic syn... |
OMIM:618594 |
| Developmental And Epileptic Encephalopathy 96 |
|
Hydrops fetalis, Death in infancy |
OMIM:619340 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber splitting, Increased variability in muscle fiber diameter, Flexion contracture, Musc... |
OMIM:253700 |
| Infantile Sialic Acid Storage Disease |
|
Premature birth, Hydrops fetalis, Nephrotic syndrome, Congestive heart failure, Ascites, Death in... |
OMIM:269920 |
| Giant platelet syndrome with thrombocytopenia |
|
Bruising susceptibility, Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Prolonge... |
OMIM:137560 |
| Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment |
OMIM:617572 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Hypertension, Proteinuria, Renal insufficiency, Focal segmental glomerulosclerosis |
OMIM:607832 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Petechiae, Radial bowing, Amegakaryocytic thrombocytopenia, Ulnar bowing, Purpura, Hip dislocatio... |
OMIM:605432 |
| Wiskott-Aldrich Syndrome |
|
Sudden cardiac death, Glomerulopathy, Hypoplasia of the thymus, Skin ulcer, Hematemesis, Prolonge... |
ORPHA:906 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Patent ductus arteriosus, Double outlet right ventricle, Short long bone, Bicuspid aortic valve, ... |
OMIM:618845 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Hydrops fetalis, Congenital thrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:616738 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Isothenuria, Distal renal tubular acidosis, Pallor, Reticulocytosis, Hepatosple... |
OMIM:611590 |
| Factor X Deficiency |
|
Intracranial hemorrhage, Epistaxis, Gingival bleeding, Menorrhagia, Prolonged prothrombin time, P... |
OMIM:227600 |
| Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Hydrops fetalis, Chylopericardium, Congestive heart failure, Ple... |
ORPHA:2414 |
| Diabetic Embryopathy |
|
Abnormal aortic morphology, Ventricular septal defect, Micrognathia, Abnormality of the pulmonary... |
ORPHA:1926 |
| Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
| Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Petechiae, Skin ulcer, Purpura, Hematuria, Cutis marmorata, Proteinuria, Gastroin... |
ORPHA:91138 |
| Tetralogy Of Fallot |
|
Abnormal nasal morphology, Clinodactyly of the 5th finger, Brachydactyly, Cryptorchidism, Tetralo... |
ORPHA:3303 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| Hereditary Elliptocytosis |
|
Stomatocytosis, Congenital hemolytic anemia, Hydrops fetalis, Hemolytic anemia, Elliptocytosis, J... |
ORPHA:288 |
| Congenital Enterovirus Infection |
|
Hypotension, Leukopenia, Anemia, Polyhydramnios, Hydrops fetalis, Neutropenia, Abnormal macrophag... |
ORPHA:292 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Jaundice, Anisopoikilocyto... |
OMIM:616689 |
| Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment |
OMIM:605750 |
| Phenobarbital Embryopathy |
|
Mandibular prognathia, Abnormal mitral valve morphology, Aplasia/Hypoplasia of fingers, Abnormal ... |
ORPHA:1919 |
| Prolidase Deficiency |
|
Anemia, Petechiae, Micrognathia, Skin ulcer, Short nose, Recurrent pneumonia, Depressed nasal bri... |
OMIM:170100 |
| Phaver Syndrome |
|
Camptodactyly of finger, Triphalangeal thumb, Ventricular septal defect, Radioulnar synostosis, U... |
ORPHA:2876 |
| Grange Syndrome |
|
Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis, Syndactyly, Short palm |
ORPHA:79094 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Abnormal bleeding, Bruising susceptibility, HbH hemoglobin, Thrombocytopenia, Acute ... |
ORPHA:231401 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Petechiae, Ecchymosis, Epistaxis, Thrombocytopenia, Ascites, Portal hypertension, Splenomegaly |
OMIM:619463 |
| Nephrotic Syndrome, Type 9 |
|
Stage 5 chronic kidney disease, Glomerular sclerosis, Proteinuria, Steroid-resistant nephrotic sy... |
OMIM:615573 |
| Dengue Fever |
|
Hypotension, Leukopenia, Petechiae, Cerebral hemorrhage, Bruising susceptibility, Epistaxis, Ging... |
ORPHA:99828 |
| Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
Nephropathy, IgA deposition in the glomerulus, Focal segmental glomerulosclerosis |
OMIM:182690 |
| Thrombotic Thrombocytopenic Purpura |
|
Acute kidney injury, Microangiopathic hemolytic anemia, Hematuria, Reticulocytosis, Stroke, Myoca... |
ORPHA:54057 |
| Cutaneous Small Vessel Vasculitis |
|
Vasculitis, Purpura, Cutis marmorata, Erythema, Urticaria |
ORPHA:889 |
| Non-Involuting Congenital Hemangioma |
|
Subcutaneous calcification, Congestive heart failure, Prominent superficial veins, Peripheral art... |
ORPHA:141179 |
| Lethal Congenital Contracture Syndrome 5 |
|
Retinal hemorrhage, Flexion contracture, Centrally nucleated skeletal muscle fibers, Death in inf... |
OMIM:615368 |
| Nephronophthisis |
|
Renal insufficiency, Anemia |
ORPHA:655 |
| Malaria |
|
Acute kidney injury, Anemia, Thrombocytopenia |
ORPHA:673 |
| Microphthalmia, Syndromic 12 |
|
Retrognathia, Ventricular septal defect, Wide nasal bridge, Micrognathia, Hypoplastic left atrium... |
OMIM:615524 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Polyhydramnios, Abnormal aortic morphology, Anemia, Hydrops fetalis, Single umbilical artery |
ORPHA:3405 |
| Cerebral Amyloid Angiopathy, App-Related |
|
Cerebellar hemorrhage, Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorr... |
OMIM:605714 |
| Bleeding Disorder, Platelet-Type, 8 |
|
Impaired ADP-induced platelet aggregation, Abnormal bleeding, Bruising susceptibility, Ecchymosis... |
OMIM:609821 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal cardiac septum morphology, Hip dysplasia, Abnormal metacarpal morphology, Clinodactyly o... |
ORPHA:2370 |
| Myh9-Related Disease |
|
Congenital thrombocytopenia, Spontaneous, recurrent epistaxis, Giant platelets, Nephritis, Bruisi... |
ORPHA:182050 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect |
OMIM:619170 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Hypothyroidism, Short 4th metacarpal, Short 3rd toe, Short 5th metacarpal, Wide nasal bridge, Sho... |
OMIM:618569 |
| Feingold Syndrome 2 |
|
2-3 toe syndactyly, Ventricular septal defect, Short middle phalanx of the 5th finger, Short midd... |
OMIM:614326 |
| Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Stage 5 chronic kidney disease, Hypertension, Edema, Proteinuria, Focal segmental glomeru... |
OMIM:603278 |
| Bardet-Biedl Syndrome 16 |
|
Rod-cone dystrophy, Renal dysplasia, Stage 5 chronic kidney disease, Retinal degeneration, Renal ... |
OMIM:615993 |
| Cardiac Valvular Dysplasia 1 |
|
Cyanosis, Patent foramen ovale, Left aortic arch with cervical origin of the right subclavian art... |
OMIM:212093 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... |
OMIM:618920 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Tubulointerstitial nephritis, Renal tubular atrophy, Anemia, Petechiae, Nephrotic syndrome, Renal... |
ORPHA:85450 |
| Nephrotic Syndrome, Type 17 |
|
Stage 5 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta... |
OMIM:618176 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Epistaxis, Thrombocytopenia, Menorrhagia, Bruising susceptibility |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Epistaxis, Thrombocytopenia, Menorrhagia, Bruising susceptibility |
OMIM:613554 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Petechiae, Reticulocytosis, Thrombocytopenia, Splenomegaly |
OMIM:611490 |
| Autoimmune Hemolytic Anemia |
|
Hemolytic anemia, Congestive heart failure, Pallor, Abnormal urinary color, Arrhythmia, Abnormal ... |
ORPHA:98375 |
| Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration |
OMIM:264420 |
| Beta-Thalassemia |
|
Anemia, Skin ulcer, Pallor, Hypertrophic cardiomyopathy, Thrombocytopenia, Abnormal hemoglobin, S... |
ORPHA:848 |
| Primary Ciliary Dyskinesia |
|
Asplenia, Bronchiectasis, Abnormal inferior vena cava morphology, Double outlet right ventricle, ... |
ORPHA:244 |
| Apert Syndrome |
|
Humeroradial synostosis, Delayed eruption of teeth, Postaxial hand polydactyly, Cutaneous syndact... |
OMIM:101200 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis, Double outlet right ventricle, Total anosmia, Decreased testicular size, Bilateral cryp... |
ORPHA:2326 |
| Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Hypopituitarism, Increased VLDL cholesterol concentration |
OMIM:144600 |
| Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Hypopituitarism, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Congenital Factor X Deficiency |
|
Subarachnoid hemorrhage, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, Abnormal ... |
ORPHA:328 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Pulmonary embolism, Abnormal cerebral vascular morphology, Subcutaneous hemorrhage, Skin ulcer, P... |
ORPHA:743 |
| Cutaneous Collagenous Vasculopathy |
|
Prominent superficial blood vessels, Petechiae, Bruising susceptibility, Erythema, Vascular skin ... |
ORPHA:280779 |
| Feingold Syndrome Type 1 |
|
Patent ductus arteriosus, 2-3 toe syndactyly, Short middle phalanx of the 5th finger, Short middl... |
ORPHA:391641 |
| Ventricular Septal Defect 3 |
|
Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:614432 |
| Congenital Tracheomalacia |
|
Cyanosis, Patent ductus arteriosus, Pneumothorax, Ventricular septal defect, Bronchiectasis, Cuti... |
ORPHA:95430 |
| Factor Xiii, B Subunit, Deficiency Of |
|
Abnormal umbilical stump bleeding, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolon... |
OMIM:613235 |
| Cinca Syndrome |
|
Premature birth, Abnormality of thrombocytes, Anemia, Abnormal granulocyte morphology, Purpura, A... |
ORPHA:1451 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Patent ductus arteriosus, Ventricular septal defect, Hand polydactyly, Atrial septal defect, Pulm... |
OMIM:249670 |
| Catel-Manzke Syndrome |
|
Metatarsus valgus, Camptodactyly of finger, Ventricular septal defect, Micrognathia, Clinodactyly... |
ORPHA:1388 |
| Autoerythrocyte Sensitization Syndrome |
|
Hematuria, Intracranial hemorrhage, Bruising susceptibility, Ecchymosis, Epistaxis, Autoimmune th... |
ORPHA:324636 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot, Clinodactyly of the 5th finger |
OMIM:187500 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly, Pallor |
ORPHA:75563 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Petechiae, Jaundice, Purpura, Abnormal renal physiology, Bruising susceptibility, Ecchymo... |
ORPHA:540 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Patent ductus arteriosus, Double outlet right ventricle, Asplenia, Unbalanced atrioventricular ca... |
OMIM:619657 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Patent ductus arteriosus, Sideroblastic anemia, Hypertension, Oligohydramnios, Arrhythmia, Thromb... |
OMIM:617021 |
| Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Petechiae, Abnormal bleeding, Edema, Thrombocytopenia, Splenomegaly |
ORPHA:158029 |
| Chondrodysplasia, Blomstrand Type |
|
Polyhydramnios, Hydrops fetalis, Fetal ascites, Stillbirth, Preductal coarctation of the aorta, P... |
OMIM:215045 |
| Irvan Syndrome |
|
Tractional retinal detachment, Macular edema, Optic atrophy, Retinal exudate, Vitreous floaters, ... |
ORPHA:209943 |
| Eng-Strom Syndrome |
|
Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology, Brachydac... |
ORPHA:1937 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Death in infancy, Cardiomyopathy |
OMIM:608540 |
| Partial Atrioventricular Septal Defect |
|
Patent ductus arteriosus, Double outlet right ventricle, Partial atrioventricular canal defect, B... |
ORPHA:1330 |
| Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Micrognathia, Atrial septal defect, Short nose, Depressed nasal bridge... |
ORPHA:1913 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia, Hypertension |
OMIM:166990 |
| Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Ventricular septal defect, Nephrotic syn... |
OMIM:616730 |
| Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... |
OMIM:143200 |
| Feingold Syndrome Type 2 |
|
Ventricular septal defect, Toe syndactyly, Brachydactyly, Short thumb, Short middle phalanx of fi... |
ORPHA:391646 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Pulmonary embolism, Warfarin-induced skin necrosis, Purpura |
OMIM:612336 |
| Boudin-Mortier Syndrome |
|
Aortic root aneurysm, Mallet finger, Pseudoepiphysis of the 1st metacarpal, Mitral valve prolapse... |
OMIM:619543 |
| Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
| 8P23.1 Duplication Syndrome |
|
Wide nose, Ventricular septal defect, Toe syndactyly, Adrenal insufficiency, Tetralogy of Fallot,... |
ORPHA:251076 |
| Holt-Oram Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Absent thumb, Abnormal aortic morphology... |
ORPHA:392 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
| Aapoaiv Amyloidosis |
|
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Coronary arter... |
ORPHA:439232 |
| Sotos Syndrome |
|
Patent ductus arteriosus, Genu valgum, Mandibular prognathia, Enlarged naris, Ventricular septal ... |
OMIM:117550 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Hematuria, Intracranial hemorrhage, Bruising susceptibility, Epistaxis, Prolonged bleeding follow... |
ORPHA:35909 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Underdeveloped nasal alae, Abnormal aortic morphology, Truncus arteriosus, Ventricular septal def... |
ORPHA:2516 |
| Nephrotic Syndrome, Type 12 |
|
Stage 5 chronic kidney disease, Hematuria, Diffuse mesangial sclerosis, Steroid-resistant nephrot... |
OMIM:616892 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
| Purpura Simplex |
|
Epistaxis, Menorrhagia, Purpura, Bruising susceptibility |
OMIM:179000 |
| Rapidly Involuting Congenital Hemangioma |
|
Subcutaneous calcification, Congestive heart failure, Prominent superficial veins, Peripheral art... |
ORPHA:141184 |
| Retinal Arteries, Tortuosity Of |
|
Retinal hemorrhage, Retinal arteriolar tortuosity |
OMIM:180000 |
| Mmep Syndrome |
|
Triphalangeal thumb, Mandibular prognathia, Ventricular septal defect, Split foot, Cryptorchidism |
ORPHA:3434 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Jaundice, Erythroid hyperplasia, Reticulocytosis, Pallor, Nonimmune hydrops fetalis, Chronic hemo... |
OMIM:266200 |
| Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Oligospermia, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... |
OMIM:615703 |
| Polycythemia Vera |
|
Increased red blood cell mass, Cerebral ischemia, Cerebral hemorrhage, Increased hematocrit, Thro... |
OMIM:263300 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... |
OMIM:310468 |
| Neovascular Glaucoma |
|
Retinal vascular proliferation, Abnormality of central retinal artery, Abnormal posterior eye seg... |
ORPHA:94058 |
| Thrombocytopenia 7 |
|
Impaired arachidonic acid-induced platelet aggregation, Post-partum hemorrhage, Impaired ADP-indu... |
OMIM:619130 |
| Pentasomy X |
|
