Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial... |
OMIM:618734 |
Danubian Endemic Familial Nephropathy |
|
Nephropathy |
OMIM:124100 |
Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage, Polyhydramnios |
OMIM:215550 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
Aneurysm, Intracranial Berry, 2 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage |
OMIM:608542 |
Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Micrognathia, Right aortic arch, Transposition of the great arteries, ... |
OMIM:231060 |
Internal Carotid Absence |
|
Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage |
ORPHA:981 |
Hydrops Fetalis, Nonimmune |
|
Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis |
OMIM:236750 |
Nuchal Bleb, Familial |
|
Stillbirth, Fetal cystic hygroma, Hydrops fetalis |
OMIM:257350 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Hypo... |
OMIM:613673 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal t... |
ORPHA:1354 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Cyanosis, Single transverse palmar crease, Micrognathia, Cryptorchidism, Patent... |
ORPHA:3304 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Pallor, P... |
OMIM:615631 |
Retinopathy Of Prematurity |
|
Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog... |
ORPHA:90050 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... |
ORPHA:766 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Increased nuchal translucency, Hydrops fetalis, Hypertrophic cardiomyopathy, As... |
ORPHA:295 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, S... |
OMIM:224120 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Proteinuria, Transient ischemic attack, Myocardial infarction, Hemolytic-uremic ... |
OMIM:274150 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibili... |
OMIM:300367 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Anemia, Purpura, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
Well-Differentiated Liposarcoma |
|
Abnormal renal physiology |
ORPHA:99971 |
Familial Afibrinogenemia |
|
Abnormal bleeding, Miscarriage, Epistaxis, Cerebral hemorrhage, Joint swelling, Gingival bleeding |
ORPHA:98880 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... |
OMIM:231200 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Macular atrophy, Mizuo p... |
OMIM:312700 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Premature birth, Hydrops fetalis, Oligohydramn... |
ORPHA:1909 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Schistocytosis, Hypertension, Microangiopathi... |
OMIM:235400 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... |
OMIM:273800 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Edema, Anemia of inadequate production, Spl... |
ORPHA:3202 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Pedal edema, Nephrotic syn... |
ORPHA:84090 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... |
ORPHA:67044 |
Transaldolase Deficiency |
|
Abnormality of the kidney, Edema, Thrombocytopenia, Hydrops fetalis, Hepatosplenomegaly, Telangie... |
ORPHA:101028 |
Cerebral Cavernous Malformations |
|
Intracranial hemorrhage, Cerebral cavernous malformation |
OMIM:116860 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased response to growth hormone stimulation test, Abnormal hand morphology, Premature grayin... |
OMIM:300845 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Overriding aorta, Ventricular septal defect, Depressed nasal bridge, Broad nasal tip, Patent duct... |
OMIM:601927 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Supraventricular arrhythmia, Retinal arteriolar tortuosity, Raynaud phenomen... |
OMIM:611773 |
Diffuse Neonatal Hemangiomatosis |
|
Renal insufficiency, Premature birth, Polyhydramnios, Renal hypoplasia/aplasia, Thrombocytopenia,... |
ORPHA:2123 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Death in infancy, Tricuspid regurgitation, Hydrops fetalis, Ascites, Pulmonic stenosis, Restricti... |
OMIM:619433 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Abnormal hand morphology, Patent ductus ar... |
ORPHA:228190 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Micrognathia, Right aortic a... |
OMIM:617616 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly, Complete atrioventricular canal defect, Double outlet right ... |
OMIM:217095 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... |
OMIM:314050 |
Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Vasculitis, Hematuria, Anemia, Purpura |
ORPHA:375 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrhage, Melena, Oral cavity bleedi... |
ORPHA:98870 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Pallor, Anemia |
ORPHA:46532 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia, Purpura |
ORPHA:529 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Bleeding Disorder, Platelet-Type, 16 |
|
Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi... |
OMIM:187800 |
Tricuspid Atresia |
|
Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persist... |
ORPHA:1209 |
Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... |
OMIM:618300 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Gingival bleeding,... |
ORPHA:3002 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Overriding aorta, Prominent nasal bridge, Carious teeth, Abnormal aortic a... |
ORPHA:1110 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Abnormal bleeding, Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte ... |
ORPHA:86841 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Micrognathia, Cryptorchidism, Abnormal aortic morphology, Abnormal hip... |
ORPHA:1166 |
Long Qt Syndrome 3 |
|
Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy... |
OMIM:603830 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Short toe, Patent ductus arteriosus, Short... |
OMIM:604381 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleed... |
OMIM:202400 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of righ... |
OMIM:616749 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Abnormal hemoglobin, Polyhydramnios, Congestive heart failure, Splenomegaly, Hydrop... |
ORPHA:163596 |
Thrombocytopenia 2 |
|
Leukocytosis, Bruising susceptibility, Thrombocytopenia |
OMIM:188000 |
Bleeding Disorder, Platelet-Type, 19 |
|
Abnormal bleeding, Epistaxis, Thrombocytopenia, Macrothrombocytopenia, Spontaneous hematomas, Men... |
OMIM:616176 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Polyhydramnios, Hydrops fetalis, Fetal pericardial effusion, Fetal pleural effusion |
OMIM:619462 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Choroidal neovascularization, Angina pe... |
OMIM:264800 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thro... |
ORPHA:853 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Abetal34V Amyloidosis |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324703 |
Thrombocytopenia 5 |
|
Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula... |
OMIM:616216 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia |
ORPHA:517 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... |
OMIM:620049 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Right ventricular dilatation, Abnor... |
ORPHA:2041 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Micrognathia, Femoral bowing, Short lo... |
OMIM:617022 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Broad hallux, Sandal gap, Secundum atrial septal defect, Congenital lo... |
OMIM:600987 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne... |
OMIM:300908 |
Primary Myelofibrosis |
|
Abnormal bleeding, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Portal hypertensio... |
ORPHA:824 |
Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Mesangial Immune... |
OMIM:613496 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... |
OMIM:614201 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Hydrops fetalis, Abnormal left ventricular fu... |
ORPHA:45452 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Stroke, P... |
ORPHA:90064 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Gombo Syndrome |
|
Abnormal heart morphology, Radial deviation of finger, Delayed puberty, Clinodactyly, Brachydactyly |
OMIM:233270 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia |
OMIM:619175 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Cyanosis, Ventricular septal defect, Patent ductus arteriosus, ... |
ORPHA:99050 |
Immune Thrombocytopenia |
|
Abnormal bleeding, Thrombocytopenia |
OMIM:188030 |
Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Situs inversus totalis, Bronchiectasis, Right aortic arch, Chronic rhinitis, Hypoth... |
OMIM:617577 |
Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Impaired ... |
ORPHA:849 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Bleeding Disorder, Platelet-Type, 9 |
|
Bruising susceptibility, Thrombocytopenia |
OMIM:614200 |
Pulmonary Atresia With Intact Ventricular Septum |
|
Pulmonary artery atresia, Hypoplastic right heart |
OMIM:265150 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Abnormality of thrombocytes, Anemia, Purpura |
ORPHA:3204 |
Developmental And Epileptic Encephalopathy 50 |
|
Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Renal tubular acidosis, Death in childhood, ... |
OMIM:616457 |
Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
Nephrotic Syndrome, Type 10 |
|
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... |
OMIM:615861 |
Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... |
OMIM:619263 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Retinal detachment, Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet... |
OMIM:153670 |
Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Peripheral arteriovenous fistula, Edema, Pu... |
ORPHA:90308 |
Tufted Angioma |
|
Anemia, Thrombocytopenia, Petechiae, Purpura |
ORPHA:1063 |
Bleeding Disorder, Platelet-Type, 17 |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Increased RBC distributi... |
OMIM:187900 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Jaundice, Neutropenia in pre... |
ORPHA:1959 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:232700 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Wide nose, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Sandal gap, 2-3 to... |
ORPHA:477817 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Micrognathia, Cryptorchidism, Clinodactyly of ... |
ORPHA:1918 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Preeclampsia/Eclampsia 1 |
|
Hypertension, Thrombocytopenia, Proteinuria, Edema |
OMIM:189800 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Retinal Capillary Malformation |
|
Subretinal exudate, Central fundal arteriolar microaneurysms, Vitreous floaters, Epiretinal membr... |
ORPHA:71213 |
Acute Promyelocytic Leukemia |
|
Abnormal bleeding, Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukoc... |
ORPHA:520 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Limited elbow extension and supination, Brachydactyly, Truncus arteriosus, Prominent nasal bridge... |
ORPHA:401935 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Petechiae, Splenomegaly, Vasculitis in the skin, Anemia, Purpura |
OMIM:620296 |
Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Edema, Cardiogenic shock, Angio... |
ORPHA:449285 |
Pseudoxanthoma Elasticum |
|
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ... |
ORPHA:758 |
Acquired Idiopathic Sideroblastic Anemia |
|
Abnormal bleeding, Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate ... |
ORPHA:75564 |
Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology, Maternal... |
ORPHA:1208 |
Fetal Gaucher Disease |
|
Decreased fetal movement, Pancytopenia, Death in infancy, Fetal akinesia sequence, Abnormality of... |
ORPHA:85212 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Brachydactyly, Single transverse palmar crease, Muscular ventricular septal defect, Hydrocele tes... |
OMIM:620062 |
Hydrops Fetalis |
|
Miscarriage, Abnormality of the kidney, Polyhydramnios, Lymphedema, Nonimmune hydrops fetalis, Pe... |
ORPHA:1041 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... |
OMIM:615008 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Megaloblastic Anemia, Folate-Responsive |
|
Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat... |
OMIM:601775 |
Oculorenocerebellar Syndrome |
|
Glomerular sclerosis, Nephropathy, Retinal degeneration |
OMIM:257970 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub... |
ORPHA:284388 |
14Q11.2 Microdeletion Syndrome |
|
Toe syndactyly, Ventricular septal defect, Depressed nasal bridge, Micrognathia, Patent ductus ar... |
ORPHA:261120 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Tachycardia, Macrocytic anemia, Reticulocytosis, Miscarriage, Anisocytosis, Jau... |
ORPHA:71275 |
Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Anemia, Abnormal platelet function, Thrombo... |
ORPHA:231393 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Ventricular septal defect, Abnormality of the hand, Underdeveloped nasal alae... |
OMIM:192430 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Pallor, Poikilocytosis, Hypochromia... |
OMIM:615234 |
Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Factor Vii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su... |
OMIM:227500 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos... |
OMIM:616084 |
Hemochromatosis, Type 3 |
|
Cardiomyopathy, Neutropenia, Lymphopenia, Anemia, Purpura |
OMIM:604250 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Congenital Heart Block |
|
Premature birth, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Conges... |
ORPHA:60041 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... |
OMIM:133780 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Anteverted nares, Sandal gap, Short toe, Anterior open-bite malocclusion, Perim... |
OMIM:617877 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... |
ORPHA:99105 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Familial Cervical Artery Dissection |
|
Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral... |
ORPHA:36382 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... |
ORPHA:98878 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Prominent nose, Atrial septal defect, Pulmonary artery atresia, Patent fo... |
OMIM:618316 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Nonimmune hydrops fetalis, ... |
OMIM:617021 |
Sandestig-Stefanova Syndrome |
|
Rocker bottom foot, Muscular ventricular septal defect, Wide nasal bridge, Perimembranous ventric... |
OMIM:618804 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Abnormality of the umbi... |
ORPHA:327 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms, Pulmonic stenosis |
OMIM:614224 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Death in infancy, Hypospadias, Fetal akinesia sequence, Dilated cardiomyopathy, Hydrops fetalis, ... |
OMIM:618815 |
Orotic Aciduria |
|
Orotic acid crystalluria, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
Recombinant Chromosome 8 Syndrome |
|
Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Micrognathia, Cryptorchidism... |
OMIM:179613 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... |
OMIM:614022 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Cutis marmorata, Patent ductus arteriosus, Short toe, Absent middle ph... |
OMIM:615297 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Factor Xiii, A Subunit, Deficiency Of |
|
Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ... |
OMIM:613225 |
Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616893 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Postaxial polydactyly, Vascular ring |
OMIM:603387 |
Complement Component 4A Deficiency |
|
Cutaneous photosensitivity, Vasculitis, Glomerulonephritis, Purpura |
OMIM:614380 |
Birk-Aharoni Syndrome |
|
Macrocytic anemia, Micrognathia, Cryptorchidism, Muscular ventricular septal defect, Long nasal b... |
OMIM:620071 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Cyanosis, Ventricular septal defect, Overlapping toe, Partial anomalous pulmonary venous return, ... |
OMIM:617478 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Rocker bottom foot, Micrognathia, Pericardial effusion, Carious teeth, Tapered finger, Multiple m... |
OMIM:620070 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Micrognathia, Agenesis of pulmonary vessels, Patent ductus arteriosus,... |
OMIM:601186 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Arachnodactyly, Coarctation of aorta, Hand polydactyly, Transposition ... |
ORPHA:261243 |
Atypical Hemolytic Uremic Syndrome |
|
Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia |
ORPHA:2134 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... |
OMIM:619201 |
Congenital Factor Xiii Deficiency |
|
Post-partum hemorrhage, Delayed onset bleeding, Ecchymosis, Myeloid leukemia, Joint hemorrhage, A... |
ORPHA:331 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Depressed nasal bridge, Ventricular septal defect, Decreased response to growth hormo... |
OMIM:220210 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Normocytic anemia, Renal insufficiency, Cutis marmorata, Epistaxis, ... |
ORPHA:33226 |
Bernard-Soulier Syndrome |
|
Partially duplicated kidney, Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurre... |
ORPHA:274 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria, Death... |
OMIM:604273 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension, Focal segmenta... |
OMIM:603965 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Rod-cone dystrophy, Retinal dystrophy, Renal cyst |
OMIM:615987 |
Imerslund-Gräsbeck Syndrome |
|
Abnormal bleeding, Reticulocytosis, Tachycardia, Macrocytic anemia, Proteinuria, Pancytopenia, Me... |
ORPHA:35858 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Hepatomegaly, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, R... |
ORPHA:422 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiac arrest, Megaloblastic anemia, Paroxysmal atrial tachycardia, Congestive heart failure, St... |
ORPHA:49827 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Elevated urinary 4-hydroxybutyric acid, Nonimmune hydrops fetalis, Lacticaciduria, Cardiomyopathy... |
OMIM:619003 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Tran... |
ORPHA:40923 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o... |
OMIM:177850 |
Ciliary Dyskinesia, Primary, 39 |
|
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... |
OMIM:618254 |
Iga Nephropathy, Susceptibility To, 1 |
|
IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hyperte... |
OMIM:161950 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Vitreous hemorrhage, Purpura |
OMIM:612304 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia |
ORPHA:294 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever... |
ORPHA:40366 |
Abeta Amyloidosis, Iowa Type |
|
Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage |
ORPHA:324708 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Anuria, Myocardial infarction, Leukocytosis, Schistocytosis, Dehydration, Hemogl... |
ORPHA:90038 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Broad hallux, Complete atrioventricular canal defect, Postaxial hand polydactyly, 2-3 finger synd... |
OMIM:217085 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Sonoda Syndrome |
|
Ventricular septal defect, High axial triradius, Depressed nasal bridge |
OMIM:270460 |
Moderate Hemophilia A |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after den... |
ORPHA:169805 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
Acquired Purpura Fulminans |
|
Shock, Pyoderma gangrenosum, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura... |
ORPHA:49566 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Overlapping toe, Long nose, Carious teeth, Muscular ventricular septal defect, Patent ductus arte... |
ORPHA:363444 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Cyanosis, Depressed nasal bridge, Ventricular septal defect, Double outlet ri... |
ORPHA:3426 |
Maternal Phenylketonuria |
|
Anteverted nares, Ventricular septal defect, Micrognathia, Bifid distal phalanx of the thumb, Cli... |
ORPHA:2209 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Howell-Jolly bodies, Ventricular septal defect, Left superior vena cava... |
OMIM:613759 |
Exudative Vitreoretinopathy 4 |
|
Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ... |
OMIM:601813 |
Breath-Holding Spells |
|
Iron deficiency anemia, Cyanosis, Pallor |
OMIM:607578 |
Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Myocardial inf... |
OMIM:155100 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Cyanosis, Ventricular septal defect, Abnormal pulmonary ... |
ORPHA:860 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrops fetalis, Anemia, Hydrocele testis, Neutropenia, Congenital thrombocytopenia, Thrombocytop... |
OMIM:616738 |
Chromosome 9P Deletion Syndrome |
|
Long toe, Depressed nasal bridge, Anteverted nares, Choanal atresia, Ventricular septal defect, M... |
OMIM:158170 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscular volume, Eryt... |
OMIM:616860 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Congenital Rubella Syndrome |
|
Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Jaundice, Splenomegaly, Ty... |
ORPHA:290 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, R... |
OMIM:192315 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Umbilical cord hematoma, Epidural hemorrhage, Miscarriage, Prolonged... |
ORPHA:465 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Hydrops fetalis, Nonimmune hydrops fetalis, Polyhydramnios |
OMIM:613124 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Pericardial effusion, Thrombocytopenia, Hematuria, Anemia, Prolonged QTc interval, ... |
ORPHA:231111 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopen... |
OMIM:603909 |
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia |
ORPHA:2802 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
Scimitar Syndrome |
|
Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Pa... |
ORPHA:185 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia |
OMIM:616959 |
Refractory Anemia |
|
Abnormal bleeding, Normocytic anemia, Abnormal cardiac ventricular function, Macrocytic anemia, A... |
ORPHA:98826 |
17Q21.31 Microduplication Syndrome |
|
Toe syndactyly, Anteverted nares, Sandal gap, Micrognathia, Delayed puberty, Clinodactyly of the ... |
ORPHA:217340 |
Sepsis In Premature Infants |
|
Abnormal bleeding, Tachycardia, Cyanosis, Premature birth, Edema, Thrombocytopenia, Leukocytosis,... |
ORPHA:90051 |
Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Hematuria, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingiva... |
ORPHA:79 |
Gray Platelet Syndrome |
|
Abnormal bleeding, Abnormality of thrombocytes, Epistaxis, Splenomegaly, Bruising susceptibility,... |
ORPHA:721 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Fetal ascites, Death in adolescence, Fetal... |
OMIM:620014 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal bleeding, Extramedullary hematopoiesis, Abnormality of thrombocytes, Epistaxis, Splenome... |
OMIM:612840 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Subcutaneous hemorrhage |
ORPHA:1980 |
Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome |
OMIM:616220 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Gingival bleedi... |
ORPHA:88 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... |
ORPHA:169802 |
Focal Segmental Glomerulosclerosis 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Mi... |
OMIM:613237 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Bruising susceptibility, Petechiae, Striae distensae, Mitral valve prolapse |
OMIM:225310 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp... |
OMIM:620135 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
Livedoid Vasculopathy |
|
Pancytopenia, Telangiectasia of the skin, Cutis marmorata, Poor wound healing, Abnormal capillary... |
ORPHA:542643 |
Developmental And Epileptic Encephalopathy 96 |
|
Death in infancy, Hydrops fetalis |
OMIM:619340 |
Nephrotic Syndrome, Type 21 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... |
OMIM:618594 |
Pseudo-Torch Syndrome 1 |
|
Microretrognathia, Anteverted nares, Thrombocytopenia, Patent ductus arteriosus, Jaundice, Spleno... |
OMIM:251290 |
Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... |
OMIM:137560 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di... |
OMIM:253700 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Meacham Syndrome |
|
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a... |
OMIM:608978 |
Infantile Sialic Acid Storage Disease |
|
Premature birth, Congestive heart failure, Splenomegaly, Vacuolated lymphocytes, Hydrops fetalis,... |
OMIM:269920 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Proteinuria, Hematuria, Hypertension, Focal segmental glomerulosclerosis |
OMIM:607832 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Abnormality of the kidney, Cerebral hemorrhage, Dif... |
ORPHA:464321 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... |
OMIM:618845 |
Moyamoya Disease With Early-Onset Achalasia |
|
Cutis marmorata, Abnormal cerebral vascular morphology, Raynaud phenomenon, Abnormal platelet agg... |
ORPHA:401945 |
Catel-Manzke Syndrome |
|
Single transverse palmar crease, Micrognathia, Clinodactyly of the 5th finger, Short metacarpal, ... |
OMIM:616145 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology |
OMIM:602114 |
Congenital Pulmonary Lymphangiectasia |
|
Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardium, Pulmonic st... |
ORPHA:2414 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Syndactyly, Radial bowing, Apl... |
OMIM:605432 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Hydro... |
ORPHA:288 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... |
ORPHA:906 |
Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Nephrocalcinosis, Decreased m... |
OMIM:611590 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Proteinuria, Cutis marmorata, S... |
ORPHA:91138 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increased mean corpusc... |
OMIM:616689 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Portal Hypertension, Noncirrhotic, 2 |
|
Epistaxis, Portal hypertension, Splenomegaly, Thrombocytopenia, Ecchymosis, Ascites, Petechiae |
OMIM:619463 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Edema, Autoimmune thrombocytopenia, Impai... |
ORPHA:324636 |
Phenobarbital Embryopathy |
|
Mandibular prognathia, Aplasia/Hypoplasia of fingers, Abnormal nasal base norphology, Abnormal mi... |
ORPHA:1919 |
Prolidase Deficiency |
|
Depressed nasal bridge, Micrognathia, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Diffus... |
OMIM:170100 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept... |
ORPHA:231401 |
Phaver Syndrome |
|
Broad hallux phalanx, Ventricular septal defect, Depressed nasal bridge, Camptodactyly of finger,... |
ORPHA:2876 |
Diabetic Embryopathy |
|
Ventricular septal defect, Micrognathia, Cryptorchidism, Tetralogy of Fallot, Abnormal aortic mor... |
ORPHA:1926 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... |
OMIM:615573 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Thrombocytopenia, Ascites, Leukopeni... |
ORPHA:99828 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus |
OMIM:182690 |
Grange Syndrome |
|
Syndactyly, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Short palm |
ORPHA:79094 |
Congenital Enterovirus Infection |
|
Abnormal bleeding, Decreased fetal movement, Abnormal macrophage morphology, Premature birth, Pol... |
ORPHA:292 |
Lethal Congenital Contracture Syndrome 5 |
|
Death in infancy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Subdural hemor... |
OMIM:615368 |
Cutaneous Small Vessel Vasculitis |
|
Cutis marmorata, Erythema, Vasculitis, Urticaria, Purpura |
ORPHA:889 |
Tetralogy Of Fallot |
|
Abnormal nasal morphology, Cryptorchidism, Clinodactyly of the 5th finger, Tetralogy of Fallot, B... |
ORPHA:3303 |
Malaria |
|
Anemia, Acute kidney injury, Thrombocytopenia |
ORPHA:673 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Short 3rd toe, Tapered finger, Short thumb, Muscular ventricular septal defect, Hypothyroidism, S... |
OMIM:618569 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Stroke, Micr... |
ORPHA:54057 |
Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Asplenia, Abnormal atrial arrangement, Respiratory tract infection, Atele... |
ORPHA:244 |
Cerebral Amyloid Angiopathy, App-Related |
|
Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he... |
OMIM:605714 |
Nephronophthisis |
|
Renal insufficiency, Anemia |
ORPHA:655 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Tubulointerstitial nephritis, Nephropathy, Decreased glomerular filtration rate, Tubulointerstiti... |
ORPHA:85450 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... |
OMIM:618920 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Rod-cone dystrop... |
OMIM:615993 |
Non-Involuting Congenital Hemangioma |
|
Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges... |
ORPHA:141179 |
Myh9-Related Disease |
|
Prolonged bleeding time, Renal insufficiency, Spontaneous, recurrent epistaxis, Proteinuria, Myoc... |
ORPHA:182050 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Feingold Syndrome Type 2 |
|
Toe syndactyly, Ventricular septal defect, Short thumb, Short middle phalanx of finger, Brachydac... |
ORPHA:391646 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal pelvic girdle bone morphology, Abnormal cardiac septum morphology, Hip dysplasia, Abnorm... |
ORPHA:2370 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Polyhydramnios, Hydrops fetalis, Single umbilical artery, Abnormal aortic morphology, Anemia |
ORPHA:3405 |
Bleeding Disorder, Platelet-Type, 8 |
|
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Impaired ADP-induced platelet agg... |
OMIM:609821 |
Nephrotic Syndrome, Type 17 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:618176 |
Feingold Syndrome 2 |
|
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyl... |
OMIM:614326 |
Cardiac Valvular Dysplasia 1 |
|
Cyanosis, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular pulmon... |
OMIM:212093 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Skin ulcer, Anemia, Pallor, Hypertrophic ca... |
ORPHA:848 |
Bleeding Disorder, Platelet-Type, 20 |
|
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia |
OMIM:616913 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration |
OMIM:264420 |
Von Willebrand Disease, Type 2 |
|
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia |
OMIM:613554 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Petechiae, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:611490 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... |
OMIM:101200 |
Cutaneous Collagenous Vasculopathy |
|
Prominent superficial blood vessels, Erythema, Diffuse telangiectasia, Bruising susceptibility, V... |
ORPHA:280779 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis, Hypogonadotropic hypogonadism, Partial anosmia, Total anosmia, Anomalous origin of left... |
ORPHA:2326 |
Factor Xiii, B Subunit, Deficiency Of |
|
Abnormal bleeding, Prolonged bleeding after surgery, Ecchymosis, Bruising susceptibility, Abnorma... |
OMIM:613235 |
Hypertriglyceridemia 1 |
|
Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Micrognathia, Metatarsus valgus, Radial devia... |
ORPHA:1388 |
8P23.1 Duplication Syndrome |
|
Wide nose, Toe syndactyly, Ventricular septal defect, Adrenal insufficiency, Pulmonic stenosis, T... |
ORPHA:251076 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Pulmonic stenosis, Atrial ... |
OMIM:249670 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Pallor, Anemia |
ORPHA:75563 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Petechiae, Thrombocytopenia, Splenomegaly, Jaundice, Anemia, Hemophagocytosis, Neutropenia, Ecchy... |
ORPHA:540 |
Congenital Tracheomalacia |
|
Cyanosis, Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Partial a... |
ORPHA:95430 |
Cinca Syndrome |
|
Premature birth, Abnormality of thrombocytes, Abnormality of neutrophils, Edema, Splenomegaly, Le... |
ORPHA:1451 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... |
OMIM:616730 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency, Skin ulcer, Subc... |
ORPHA:743 |
Boudin-Mortier Syndrome |
|
Long toe, Mallet finger, Arachnodactyly, Long fingers, Pseudoepiphyses of the proximal phalanges ... |
OMIM:619543 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Cardiomyopathy, Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Death in infancy |
OMIM:608540 |
Sotos Syndrome |
|
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Broad... |
OMIM:117550 |
Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Tetralogy of Fallot |
OMIM:187500 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger, Brachydac... |
ORPHA:1937 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect |
OMIM:620203 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Oligozoospermia, Increased LDL cho... |
OMIM:615703 |
Sea-Blue Histiocytosis |
|
Abnormal bleeding, Petechiae, Edema, Splenomegaly, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
You-Hoover-Fong Syndrome |
|
Coarctation of aorta, Vascular ring, Clinodactyly, Double aortic arch, Brachydactyly |
OMIM:616954 |
Chondrodysplasia, Blomstrand Type |
|
Premature birth, Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth, Preductal coarctatio... |
OMIM:215045 |
Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Ventricular septal defect, Micrognathia, Transposition of the great arter... |
ORPHA:1913 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension, Thrombocytopenia |
OMIM:166990 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Proteinuria, Cardiac ... |
ORPHA:439232 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... |
OMIM:143200 |
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant |
|
Purpura, Warfarin-induced skin necrosis, Pulmonary embolism |
OMIM:612336 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Toe syndactyly, Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Bilateral sing... |
OMIM:619657 |
Feingold Syndrome Type 1 |
|
Toe syndactyly, Tricuspid stenosis, Micrognathia, Short middle phalanx of the 2nd finger, Short t... |
ORPHA:391641 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Bilateral single transverse palmar creases, Underdeveloped nasal alae,... |
ORPHA:2516 |
Partial Atrioventricular Septal Defect |
|
Recurrent respiratory infections, Bicuspid aortic valve, Transient ischemic attack, Coronary sinu... |
ORPHA:1330 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Edema, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertens... |
OMIM:603278 |
Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Retinal Arteries, Tortuosity Of |
|
Retinal arteriolar tortuosity, Retinal hemorrhage |
OMIM:180000 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Holt-Oram Syndrome |
|
Finger syndactyly, Ventricular septal defect, Down-sloping shoulders, Absent thumb, Abnormality o... |
ORPHA:392 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Pentasomy X |
|
Camptodactyly of finger, Micrognathia, Patent ductus arteriosus, Small hand, Wide nasal bridge, S... |
ORPHA:11 |
Neovascular Glaucoma |
|
Retinal detachment, Abnormal posterior eye segment morphology, Retinal vascular proliferation, Re... |
ORPHA:94058 |
Rapidly Involuting Congenital Hemangioma |
|
Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges... |
ORPHA:141184 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Nonimmune hydrops fetalis, Reduced red cell ... |
OMIM:266200 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Purpura Simplex |
|
Bruising susceptibility, Menorrhagia, Epistaxis, Purpura |
OMIM:179000 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Distal lower limb amyotrophy, Claw hand deformity, Proteinuria, Stage 5 chronic kidney disease, F... |
OMIM:614455 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos... |
OMIM:619130 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... |
OMIM:616188 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Enlarged k... |
OMIM:615285 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Death in infancy, Hepatomegaly, Ventricular septal defect, Ectopic kidney, Cry... |
OMIM:613730 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Abnormal neutrophil count, Lymphedema, Splenomegaly, Leukocytosis, Acute... |
ORPHA:3226 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Trimethylaminuria |
|
Tachycardia, Trimethylaminuria, Splenomegaly, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Micrognathia, Abnormal shoulder morphology, Mesomelia, Abnormal mitral valve morphology, Convex n... |
ORPHA:1277 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Death in infancy, Premature birth, Nonimmune hydrops fetalis, Cardiomyopathy, Neonatal death, Anemia |
OMIM:618839 |
Mmep Syndrome |
|
Mandibular prognathia, Ventricular septal defect, Cryptorchidism, Split foot, Triphalangeal thumb |
ORPHA:3434 |
Fucosidosis |
|
Recurrent respiratory infections, Wide nose, Absent/hypoplastic paranasal sinuses, Depressed nasa... |
OMIM:230000 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Death in infancy, Premature birth, Nonimmune hydrops fetalis, Neonatal death, Hypertrophic cardio... |
OMIM:618835 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Retinal dystrophy, Macular atrophy, Glomerular subepithelial immune-co... |
OMIM:616307 |
Slc35A1-Cdg |
|
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Neutropenia... |
ORPHA:238459 |
Aicardi-Goutieres Syndrome 1 |
|
Diabetes insipidus, Thrombocytopenia, Splenomegaly, Vasculitis, Erythema, Cardiomyopathy, Prolong... |
OMIM:225750 |
Cranioacrofacial Syndrome |
|
Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Jaundi... |
ORPHA:822 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Secundum atrial septal defect, Thrombocytopenia, Patent ductus arteriosus, P... |
OMIM:617397 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Clinodactyly, Small hand, Short foot, Short 5th finger, Cubitus valgus, Short nose |
OMIM:300577 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Bifid sternum, Coarctation of aorta |
OMIM:140850 |
Simple Cryoglobulinemia |
|
Myocardial infarction, Mesangial hypercellularity, Acral ulceration, Nephritis, Membranoprolifera... |
ORPHA:91139 |
Gaucher Disease, Perinatal Lethal |
|
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Thrombocyto... |
OMIM:608013 |
Leishmaniasis |
|
Abnormal bleeding, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Skin ulcer, Anemia... |
ORPHA:507 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... |
OMIM:300751 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
Elliptocytosis 1 |
|
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor |
OMIM:611804 |
Burn-Mckeown Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Abnormal cardiac septum morphology, Short nose, Bilate... |
ORPHA:1200 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect, Anteverted nares, Rocker bottom foot, Delayed eruption of permanent te... |
OMIM:618506 |
Congenital Sialidosis Type 2 |
|
Respiratory tract infection, Telangiectasia, Abnormal heart morphology, Hepatosplenomegaly, Polyd... |
ORPHA:93400 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Abnormal lung morphology, Abnormal femur morphology, Ecchymosis, Abnormal bl... |
ORPHA:464329 |
22Q11.2 Duplication Syndrome |
|
Wide nose, Ventricular septal defect, Micrognathia, Depressed nasal ridge, Hypoplastic left heart... |
ORPHA:1727 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Warfarin-induced skin necrosis, Abnormal cerebral vascular morphology, Pulmonary embolism, Venous... |
ORPHA:745 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Skeletal muscle atrophy, Retinal detachment, Remnants of the hyaloid... |
OMIM:609049 |
Glycogen Storage Disease Iv |
|
Decreased fetal movement, Edema, Portal hypertension, Polyhydramnios, Hydrops fetalis, Cardiomyop... |
OMIM:232500 |
Chorioretinal Atrophy, Progressive Bifocal |
|
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy |
OMIM:600790 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... |
ORPHA:99106 |
Lathosterolosis |
|
Foam cells with lamellar inclusion bodies, Increased mean platelet volume, Acanthocytosis, Schist... |
OMIM:607330 |
Exudative Vitreoretinopathy 5 |
|
Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachment |
OMIM:613310 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Sitosterolemia 1 |
|
Abnormal bleeding, Reticulocytosis, Coronary artery atherosclerosis, Carotid artery stenosis, Thr... |
OMIM:210250 |
Snijders Blok-Campeau Syndrome |
|
Prominent nose, Wide nasal bridge, Perimembranous ventricular septal defect, Taurodontia, Pulmoni... |
OMIM:618205 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Left v... |
OMIM:618052 |
Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cells, Facial ede... |
OMIM:256550 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Sideroblastic anemia, Hypertrophic cardiomyopathy, Pallor |
OMIM:613561 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxi... |
ORPHA:99147 |
Cystinuria |
|
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... |
OMIM:220100 |
Alg8-Cdg |
|
Premature birth, Abnormality of subcutaneous fat tissue, Edema, Thrombocytopenia, Hydrops fetalis... |
ORPHA:79325 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... |
ORPHA:99104 |
Nephronophthisis 14 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Retinal degeneration, Nephronophthisis |
OMIM:614844 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Epiphyseal stippling, Prolonged prothrombin ti... |
OMIM:277450 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Broad nasal tip, Micrognathia, Cryptorchidism, Hypoplastic left atrium... |
OMIM:615524 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Neonatal omphalitis, 3-Methylglutaconic aciduria, Neutropenia, Anemia |
OMIM:619835 |
Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukoc... |
ORPHA:86839 |
Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Premature thelarche, Prominent nose, Micrognathia, Hypoplasia of... |
OMIM:180849 |
Alport Syndrome |
|
Mesangial hypercellularity, Macular degeneration, Nephritis, Tubulointerstitial fibrosis, Glomeru... |
ORPHA:63 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Short palm, Clinodactyly of the 5th f... |
ORPHA:508498 |
Achondrogenesis, Type Ib |
|
Polyhydramnios, Edema, Breech presentation, Hydrops fetalis, Stillbirth |
OMIM:600972 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... |
OMIM:614377 |
Sneddon Syndrome |
|
Intracranial hemorrhage, Nephropathy, Hypertension, Arterial stenosis |
ORPHA:820 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Papillorenal Syndrome |
|
Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc... |
OMIM:120330 |
Catastrophic Antiphospholipid Syndrome |
|
Angina pectoris, Abnormality of the kidney, Myocardial infarction, Pulmonary embolism, Transient ... |
ORPHA:464343 |
Sickle Cell Disease |
|
Hemolytic anemia, Renal insufficiency, Splenomegaly, Leukocytosis, Splenic infarction, Jaundice, ... |
OMIM:603903 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Maternal diabetes, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic... |
ORPHA:2248 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... |
OMIM:615616 |
Forsythe-Wakeling Syndrome |
|
Nephrotic syndrome, Thrombocytopenia |
OMIM:613606 |
Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Flexion contracture, Retinal degeneration, Hepatomegaly, Retinal atrophy... |
ORPHA:90324 |
Boutonneuse Fever |
|
Abnormal skin morphology of the palm, Thrombocytopenia, Cervical lymphadenopathy, Vasculitis, Lym... |
ORPHA:83313 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Skeletal muscle atrophy, Scapular winging, Facial palsy, Retinal telangiectasia, Calf muscle hype... |
OMIM:158900 |
Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, At... |
OMIM:306955 |
Alg12-Cdg |
|
Redundant skin, Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Patent... |
ORPHA:79324 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Erythema, Hypercalciuria, Hydrops fetalis, ... |
OMIM:557000 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, Abnormal hand morphology, ... |
ORPHA:371428 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Cryptorchidism, Patent ductus arteriosus, Thrombocytopenia, Perimembranous ventricular septal def... |
OMIM:608104 |
Free Sialic Acid Storage Disease |
|
Proteinuria, Splenomegaly, Hydrops fetalis, Skin ulcer, Nephrotic syndrome, Ascites |
ORPHA:834 |
Yuan-Harel-Lupski Syndrome |
|
Wide nose, Ventricular septal defect, Bicuspid aortic valve, Sandal gap, Aortic root aneurysm, Cl... |
OMIM:616652 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart ... |
ORPHA:90037 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia, Death in infancy |
OMIM:619302 |
Hyperlysinemia, Type I |
|
Hyperlysinuria, Anemia |
OMIM:238700 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Az... |
ORPHA:300298 |
Stuve-Wiedemann Syndrome 2 |
|
Congestive heart failure, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hy... |
OMIM:619751 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Abnormal bleeding, Hematuria, Glomerulonephritis, Thrombocytopenia |
OMIM:314000 |
Frontonasal Dysplasia 1 |
|
Broad nasal tip, Bifid nasal tip, Hypoplasia of the maxilla, Postaxial hand polydactyly, Hypoplas... |
OMIM:136760 |
Down Syndrome |
|
Redundant neck skin, Single transverse palmar crease, Hypoplastic iliac wing, Short palm, Atrial ... |
OMIM:190685 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Cyanosis, Abnormal coronary artery morphology, Cardiomegaly, Pa... |
ORPHA:980 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect, Short hallux, Broad nasal tip, Long fingers, Wide nasal bridge, Clinod... |
OMIM:620393 |
Platelet Signal Processing Defect |
|
Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce... |
OMIM:173590 |
Hypertriglyceridemia, Transient Infantile |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia |
OMIM:614480 |
Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Rocker bottom foot, Adrenal hypoplasia, Cryptorchidism, Patent du... |
OMIM:617053 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Cutaneous photosensitivity, Anemia |
OMIM:615715 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Prominent nasal bridge, Proximal placement of thumb, Micrognathia, Tapered ... |
ORPHA:251071 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... |
ORPHA:99103 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Micrognathia, Bifid nasal tip... |
OMIM:619343 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage |
OMIM:614483 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Hemolytic anemia, Myocarditis... |
ORPHA:809 |
Sialidosis Type 2 |
|
Splenomegaly, Hydrops fetalis, Pedal edema, Nephropathy, Ascites |
ORPHA:87876 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Hematuria, Retinal detachment, Optic atrophy, Chorioretinal coloboma |
ORPHA:1473 |
Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:600995 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stomatocytosis, In... |
OMIM:185000 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Absent gallbladder, Mi... |
ORPHA:3186 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Cutis marmorata, Raynaud phenomenon, Livedo reticularis, Hypertension, Ischemic stroke, Thrombocy... |
OMIM:615750 |
Acys Amyloidosis |
|
Death in early adulthood, Stroke, Cerebral hemorrhage |
ORPHA:100008 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph... |
OMIM:618348 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Teebi Hypertelorism Syndrome 1 |
|
Natal tooth, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Micrognathia, S... |
OMIM:145420 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis |
OMIM:161900 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
Lymphedema And Cerebral Arteriovenous Anomaly |
|
Pulmonary arterial hypertension, Abnormal cerebral vascular morphology, Lymphedema |
OMIM:152900 |
Zimmermann-Laband Syndrome 3 |
|
Broad nasal tip, Aplasia of the distal phalanx of the 5th toe, Patent ductus arteriosus, Wide nas... |
OMIM:618658 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Abnormality of the urinary system, Hydrops fetalis, Polyhydramnios |
ORPHA:2204 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Lupus nephritis, Leukopenia, Cutaneous photosensitivity, Nephriti... |
OMIM:152700 |
Pseudo-Torch Syndrome 3 |
|
Death in infancy, Proteinuria, Premature birth, Cerebral hemorrhage, Leukocytosis, Hypertension, ... |
OMIM:618886 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Increased level of hippuric acid in urine, Glutaric aciduria, Anemia, 3-Methylglutaric aciduria, ... |
OMIM:246450 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Anemia |
OMIM:611283 |
Lujo Hemorrhagic Fever |
|
Shock, Lymphopenia, Renal insufficiency, Generalized edema, Excessive bleeding after a venipunctu... |
ORPHA:319213 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Anemia, Leukopenia, Prol... |
ORPHA:2330 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Anteverted nares, Prominent nasal bridge, Ventricular septal defect, Atr... |
OMIM:612946 |
Cold Agglutinin Disease |
|
Splenomegaly, Abnormal urinary color, Hemolytic anemia, Pallor |
ORPHA:56425 |
Brachydactyly, Type A1, B |
|
Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of... |
OMIM:607004 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Pulmonary edema, Transient ischemic attack, Cardiomegaly, Pericardial ef... |
OMIM:115197 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Abnormality... |
OMIM:300476 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Ventricular septal defect, Prominent nasal bridge, Tapered finger, Bulbous nose, Patent ductus ar... |
OMIM:613870 |
Whim Syndrome 2 |
|
Tetralogy of Fallot, Chronic neutropenia |
OMIM:619407 |
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, Arterial stenosis, I... |
ORPHA:136 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Cryptorchidism, Renal cyst, Rod-cone dystrophy, Retinal degeneration |
OMIM:615982 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Transient ... |
ORPHA:183 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Renal insufficiency, Thrombocytopenia, Splenomegaly, Dehydration, Cardiomyopathy, Stroke, Neutrop... |
ORPHA:79312 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brac... |
OMIM:610140 |
Preeclampsia |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated diastolic blood pressure... |
ORPHA:275555 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Gastrointestinal hemorrhage, Proteinuria, Abnormal retinal vascular mor... |
ORPHA:247691 |
Lymphatic Malformation 1 |
|
Urethral stricture, Prominent superficial veins, Predominantly lower limb lymphedema, Nonimmune h... |
OMIM:153100 |
Rhabdoid Tumor |
|
Renal neoplasm, Thrombocytopenia, Hematuria, Hypertension, Internal hemorrhage, Anemia |
ORPHA:69077 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Bicuspid aortic valve, Single transverse palmar crease, Prominent nose, Mi... |
OMIM:612474 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Micrognathia, Short thumb,... |
OMIM:612561 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Edema, Thrombocytopenia, Splenomegaly, Jaundice, Hemophagocytosis, Neutropenia, Anemia |
OMIM:603552 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Taper... |
OMIM:301040 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Cardiomegaly, Muscular ventricular septal defect, Clubbing, Atrial septal defect, Paten... |
ORPHA:439 |
Orofaciodigital Syndrome Xvii |
|
Prominent nose, Short middle phalanx of the 2nd finger, Central Y-shaped metacarpal, Partial dupl... |
OMIM:617926 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Ecchymosis, Bruising susceptibility, Epistaxis, Impaired thromboxane A2 agonist-induced platelet ... |
OMIM:614009 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:2613 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
Elliptocytosis 3 |
|
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... |
OMIM:617948 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Donnai-Barrow Syndrome |
|
Retinal detachment, Retinal dystrophy, Ventricular septal defect, Congenital diaphragmatic hernia... |
ORPHA:2143 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb... |
OMIM:124900 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Abnormally low T cell receptor excision circle leve... |
OMIM:619374 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Proteinuria, Thrombocytopenia, Macrothrombocytopenia, Aminoaciduria, Neutro... |
OMIM:603585 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:608898 |
Congenital Erythropoietic Porphyria |
|
Abnormal bleeding, Hemolytic anemia, Reticulocytosis, Nonimmune hydrops fetalis, Edema, Anisocyto... |
ORPHA:79277 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Double outlet left ventricle, Diabetes mellitus, Ventricular septal defect, P... |
OMIM:600001 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Proteinuria, Recurrent myoglobinuria, Ragged-red muscle fibers, Nephrotic syndrome, Focal segment... |
OMIM:607426 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Wide nose, Micrognathia, Secundum atrial septal defect, Splenomegaly, Jaundice, Excessive wrinkle... |
OMIM:608779 |
Nephrotic Syndrome, Type 15 |
|
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... |
OMIM:617609 |
Bardet-Biedl Syndrome 19 |
|
Atrial septal defect, Ventricular septal defect, Mesoaxial hand polydactyly, Partial atrioventric... |
OMIM:615996 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Repeated pneumothoraces, Cutis marmorata, Arachnodactyly, Long nose, C... |
OMIM:617602 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Sandal gap, Redundant skin, Progeroid facial appearance, Micrognathia, Vascular... |
OMIM:613177 |
Familial Multiple Nevi Flammei |
|
Edema, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformat... |
ORPHA:624 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Aregenerative Anemia |
|
Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Pallor, Neutropenia, De... |
ORPHA:101096 |
Niemann-Pick Disease, Type B |
|
Foam cells with lamellar inclusion bodies, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly... |
OMIM:607616 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Stage 5 chronic kidney disease,... |
OMIM:612925 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Hermansky-Pudlak Syndrome 6 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... |
OMIM:614075 |
Bleeding Disorder, Platelet-Type, 14 |
|
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis |
OMIM:614158 |
Char Syndrome |
|
Mesoaxial foot polydactyly, Ventricular septal defect, Depressed nasal bridge, Supernumerary nipp... |
ORPHA:46627 |
Houge-Janssens Syndrome 3 |
|
Atrial septal defect, Muscular ventricular septal defect, Single transverse palmar crease, Broad ... |
OMIM:618354 |
X-Linked Mandibulofacial Dysostosis |
|
Prominent nasal bridge, Micrognathia, Cryptorchidism, Hypoplasia of the zygomatic bone, Pulmonic ... |
ORPHA:1131 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronephrosis, Thrombocyto... |
OMIM:598500 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
Congenital Glaucoma |
|
Retinal detachment |
ORPHA:98976 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Bicuspid aortic valve, Depressed nasal bridge, Choanal atresia, Ventricu... |
ORPHA:284169 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Cardiomyo... |
OMIM:610717 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pallor, Thromboc... |
OMIM:613839 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin concentration, Hem... |
OMIM:194380 |
Fibromuscular Dysplasia, Arterial |
|
Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudication, Aortic disse... |
OMIM:135580 |
Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
Stickler Syndrome Type 2 |
|
Retinal detachment, Retinopathy, Abnormal vitreous humor morphology |
ORPHA:90654 |
Babesiosis |
|
Hemolytic anemia, Renal insufficiency, Myocardial infarction, Congestive heart failure, Splenomeg... |
ORPHA:108 |
Adams-Oliver Syndrome 6 |
|
Syndactyly, Ventricular septal defect, Cutis marmorata, Splenomegaly, Foot oligodactyly, Truncus ... |
OMIM:616589 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hypertension, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Retinal detachment, Muscular dystrophy, Death in childhood |
OMIM:613153 |
Abeta Amyloidosis, Dutch Type |
|
Death in early adulthood, Stroke, Cerebral hemorrhage |
ORPHA:100006 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Death in infancy, Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fract... |
OMIM:614096 |
Stormorken Syndrome |
|
Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Thrombocyto... |
OMIM:185070 |
Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia |
OMIM:608404 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Epidermolysis Bullosa Simplex 5A, Ogna Type |
|
Skin fragility with non-scarring blistering, Bruising susceptibility |
OMIM:131950 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Hypertension, Microa... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Hypertension, Microa... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Hypertension, Microa... |
OMIM:612926 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Abnorm... |
OMIM:613390 |
Idiopathic Pulmonary Hemosiderosis |
|
Glomerulonephritis, Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Iron deficienc... |
ORPHA:99931 |
Adult-Onset Foveomacular Vitelliform Dystrophy |
|
Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions |
ORPHA:99000 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Nephropathy, Vascular dil... |
OMIM:617056 |
Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... |
OMIM:615382 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume |
OMIM:615193 |
Orthostatic Hypotensive Disorder, Streeten Type |
|
Orthostatic hypotension, Syncope, Bruising susceptibility, Facial erythema |
OMIM:143850 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia |
OMIM:610947 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Redundant neck skin, Ventricular septal defect, Rocker bottom foot, Coxa valga, Cryptorchidism, P... |
OMIM:301056 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal heart valve morphology, Abnormal coronary artery morphology, Ao... |
ORPHA:3400 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Prolonged bleeding time, Autoimmune h... |
OMIM:301000 |
Heterotaxy, Visceral, 5, Autosomal |
|
Bilateral trilobed lung, Right atrial isomerism, Absence of the sacrum, Ventricular septal defect... |
OMIM:270100 |
Q Fever |
|
Pericarditis, Pericardial effusion, Myocarditis, Thrombocytopenia, Vasculitis, Splenomegaly, Abno... |
ORPHA:781 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, High-ou... |
ORPHA:231222 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart ... |
ORPHA:90033 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re... |
OMIM:617610 |
Von Willebrand Disease, Type 3 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... |
OMIM:277480 |
Verheij Syndrome |
|
Anteverted nares, Ventricular septal defect, Broad nasal tip, Clinodactyly, Hip dislocation, Wide... |
OMIM:615583 |
Ritscher-Schinzel Syndrome 2 |
|
Prominent fingertip pads, Syndactyly, Ventricular septal defect, Broad hallux, Overlapping toe, C... |
OMIM:300963 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Immunodeficiency 91 And Hyperinflammation |
|
Death in infancy, Renal insufficiency, Membranoproliferative glomerulonephritis, Neutrophilia, Ed... |
OMIM:619644 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Bowing of the long bones, Depressed nasal bridge, Micromelia, Coxa val... |
ORPHA:166272 |
Coats Disease |
|
Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology |
ORPHA:190 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Premature birth, Abnormal hemoglobin, Anemia of inadequate produ... |
ORPHA:2133 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Hypertension, Microa... |
OMIM:612924 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Pericarditis, Renal insufficiency, Proteinuria, Recurrent urinary tract infections,... |
OMIM:619487 |
Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Decreased fetal movement, Death in infancy, Cardiac arrest, Polyhydramnios, Ac... |
OMIM:618947 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Dehydration, Cardiomyopathy, Leukopenia... |
ORPHA:27 |
Mullegama-Klein-Martinez Syndrome |
|
Depressed nasal bridge, Prominent nose, Micrognathia, Bulbous nose, Wide nasal bridge, Coarctatio... |
OMIM:301022 |
Hatipoglu Immunodeficiency Syndrome |
|
Pancytopenia, Hypospadias, Petechiae, Poor wound healing, Cryptorchidism, Premature graying of ha... |
OMIM:620331 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Bleeding Disorder, Platelet-Type, 24 |
|
Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele... |
OMIM:619271 |
Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Hypoplasia of the maxilla, Complete atrioventricular canal defect, Genu va... |
OMIM:619142 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Anemia, Hepatosplenomegaly |
OMIM:312500 |
C Syndrome |
|
Short metacarpal, Toe syndactyly, Ventricular septal defect, Anteverted nares, Micromelia, Microg... |
OMIM:211750 |
Thrombocytopenia 1 |
|
Epistaxis, Decreased mean platelet volume, Intermittent thrombocytopenia, Bruising susceptibility... |
OMIM:313900 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Hypoplastic right heart, Ventricular septal defect, Depressed nasal bridge, Micrognathia, Overlap... |
OMIM:618142 |
Shigellosis |
|
Hemolytic-uremic syndrome, Myocarditis, Leukocytosis, Urethritis, Dehydration, Urticaria, Hypovol... |
ORPHA:810 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... |
OMIM:612422 |
Ogden Syndrome |
|
Redundant neck skin, Bicuspid aortic valve, Redundant skin, Maternal diabetes, Cardiomegaly, Secu... |
OMIM:300855 |
Hellp Syndrome |
|
Hemolytic anemia, Pulmonary edema, Proteinuria, Decreased mean corpuscular hemoglobin concentrati... |
ORPHA:244242 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Anteverted nares, Micrognathia, Abnormal cardiac ventricle morphology, Pat... |
ORPHA:2306 |
Arthrogryposis, Distal, Type 2B2 |
|
Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Shor... |
OMIM:618435 |
Griscelli Syndrome Type 2 |
|
Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Premature graying of hair, Hemophagocytosi... |
ORPHA:79477 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricul... |
OMIM:617201 |
Rift Valley Fever |
|
Abnormal bleeding, Miscarriage, Retinitis, Hematemesis, Retinal hemorrhage, Macular edema, Retina... |
ORPHA:319251 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Clinodactyly of the 5th finger, Patent ductus arteriosus, Ventricular septal defect, Single trans... |
OMIM:619717 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Renal artery aneurysm, Pancytopenia, Cutis marmorata, Portal hypertension, Raynaud phenomenon, Sp... |
OMIM:615688 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia |
OMIM:615924 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Anteverted nares, Micrognathia, Precocious puberty, Delayed eruption of permanent teeth, Short di... |
OMIM:619356 |
Stickler Syndrome, Type I, Nonsyndromic Ocular |
|
Optically empty vitreous, Rhegmatogenous retinal detachment |
OMIM:609508 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment |
OMIM:147610 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Hepatomegaly, Renal cyst |
OMIM:614870 |
Nemaline Myopathy 9 |
|
Ventricular septal defect, Micrognathia |
OMIM:615731 |
Attrv30M Amyloidosis |
|
Vitreous floaters, Cardiomegaly, Atrioventricular block, Cardiomyopathy, Nephropathy, Arrhythmia,... |
ORPHA:85447 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pa... |
ORPHA:69735 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkins... |
OMIM:619705 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Epistaxis, Petechiae, Decreased mean platelet volume |
OMIM:273900 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... |
OMIM:614292 |
Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... |
ORPHA:99095 |
Tetrasomy 15Q26 |
|
Microretrognathia, Arachnodactyly, Patent ductus arteriosus, Hypoplastic aortic arch, Camptodacty... |
OMIM:614846 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Short metacarpal, Hip contracture, Ventricular septal defect, Antev... |
OMIM:616651 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Redundant neck skin, Mitral atresia, Patent ductus arteriosus, Clinodactyly, Double outlet right ... |
OMIM:618164 |
Keutel Syndrome |
|
Recurrent respiratory infections, Wide nose, Ventricular septal defect, Depressed nasal bridge, U... |
ORPHA:85202 |
Myelofibrosis |
|
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura |
OMIM:254450 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Pallor |
ORPHA:90036 |
Cornelia De Lange Syndrome 2 |
|
Anteverted nares, Prominent nasal bridge, Cutis marmorata, Micrognathia, Limited elbow movement, ... |
OMIM:300590 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Hepatom... |
ORPHA:99827 |
Capillary Malformation-Arteriovenous Malformation |
|
Abnormal bleeding, Neurogenic bladder, Peripheral arteriovenous fistula, Epistaxis, Nonimmune hyd... |
ORPHA:137667 |
Acute Generalized Exanthematous Pustulosis |
|
Renal insufficiency, Neutrophilia, Eosinophilia, Facial edema, Leukocytosis, Scaling skin, Neutro... |
ORPHA:293173 |
Stickler Syndrome Type 1 |
|
Retinal detachment, Abnormal vitreous humor morphology, Mitral valve prolapse |
ORPHA:90653 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Ventricular septal defect, Depressed nasal bridge, Apl... |
ORPHA:2256 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... |
OMIM:301006 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Prominent nose, Micrognathia, Delayed epiphyseal oss... |
OMIM:210710 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Cryptorchidism, Cardiomyopathy, A... |
OMIM:249270 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Choanal atresia, Abnormality of the thyroid gland, Coarctation of aort... |
ORPHA:1923 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect |
OMIM:253300 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:182900 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Prominent nasal bridge, Overlapping toe, Paten... |
OMIM:618974 |
Tempi Syndrome |
|
Transudative pleural effusion, Abnormality of the kidney, Telangiectasia, Intracranial hemorrhage... |
ORPHA:284227 |
Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:617731 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Single transverse palmar crease, Secundum atrial septal defect, Leukopenia, Hypoplasia of the thy... |
OMIM:612541 |
Nephrotic Syndrome, Type 22 |
|
Podocyte foot process effacement, Stage 5 chronic kidney disease, Thickened glomerular basement m... |
OMIM:619155 |
Desbuquois Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Elb... |
ORPHA:1425 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Short nose, Anteverted nares, Micrognathia |
ORPHA:2015 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect, Short distal phalanx of finger, Underdeveloped nas... |
OMIM:601355 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Atrial septal defect, Broad hallux, Cryptorchidism, Patent ductus arterios... |
ORPHA:353281 |
Isovaleric Acidemia |
|
Pancytopenia, Cerebellar hemorrhage, Hyperglycinuria, Dehydration, Leukopenia, Thrombocytopenia |
OMIM:243500 |
Hermansky-Pudlak Syndrome 3 |
|
Abnormal bleeding, Spontaneous, recurrent epistaxis, Gingival bleeding, Bruising susceptibility, ... |
OMIM:614072 |
Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
Microcephaly-Cardiomyopathy Syndrome |
|
Sandal gap, Dilated cardiomyopathy, Ventricular septal defect, Clinodactyly of the 5th finger |
ORPHA:2515 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Cryptorchidism, Arterial stenosis, Cerebral artery atherosclerosis, Nephrotic syndro... |
ORPHA:1192 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Wide nose, Depressed nasal bridge, Ventricular septal defect, Broad nasal tip, Long nose, Wide na... |
OMIM:619995 |
Relapsing Fever |
|
Abnormal bleeding, Tachycardia, Neutrophilia, Epistaxis, Thrombocytopenia, Leukocytosis, Jaundice... |
ORPHA:91547 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
Woods Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Supernumerary nipple, 3-4 finger cuta... |
OMIM:615236 |
Dextrocardia |
|
Congenital hip dislocation, Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Abno... |
ORPHA:1666 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Micrognathia, Precocious puberty, Acromicria, Small hand, Abnormal heart morphology, Short foot, ... |
ORPHA:254525 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Lamb-Shaffer Syndrome |
|
Depressed nasal bridge, Overlapping toe, Long fingers, Bulbous nose, Wide nasal bridge, Clinodact... |
OMIM:616803 |
Familial Aortic Dissection |
|
Cutis marmorata, Cardiomegaly, Descending thoracic aorta aneurysm, Descending aortic dissection, ... |
ORPHA:229 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Polyhydramnios, Renal hypoplasia/aplasia, Splenomegaly, Abnorma... |
ORPHA:1046 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatomegaly, Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy, Muscular dy... |
ORPHA:369840 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency |
OMIM:249660 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Epiphyseal stippling, Jaundice, Ventricular septal defect |
OMIM:614876 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Congestive heart failure, Splenomegaly, Flexion contracture, Optic atr... |
OMIM:617303 |
Generalized Arterial Calcification Of Infancy |
|
Medial calcification of large arteries, Choroidal neovascularization, Cardiomegaly, Abnormal reti... |
ORPHA:51608 |
20Q13.33 Microdeletion Syndrome |
|
Hallux valgus, Dilation of Virchow-Robin spaces, Tapered finger, Bulbous nose, Abnormal cardiac v... |
ORPHA:261311 |
Immunoglobulin A Vasculitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Proteinuria, Edema, Orchitis, A... |
ORPHA:761 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Ventricular septal defect, Decreased response to growth hormone stimulation tes... |
OMIM:618624 |
Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... |
OMIM:615170 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Filippi Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Underdeveloped nasal alae, 2-4 toe sy... |
OMIM:272440 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... |
OMIM:132900 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Cardiospondylocarpofacial Syndrome |
|
Carpal synostosis, Anteverted nares, Ventricular septal defect, Tarsal synostosis, Bulbous nose, ... |
OMIM:157800 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Abnormal bleeding, Anemic pallor, Edema, Hematochezia, Anemia |
ORPHA:329971 |
Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal def... |
ORPHA:1908 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
White scaling skin, Acanthocytosis |
OMIM:604777 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment |
OMIM:620253 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Sandal gap, Atrial septal defect, Short nose, Tetralogy of Fallot |
OMIM:300887 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hydrops fetalis |
OMIM:276822 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Depressed nasal bridge, Ventricular septal defect, Rhizomelia, Micrognathia, Decreased response t... |
OMIM:614114 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Von Hippel-Lindau Disease |
|
Papilledema, Retinal detachment, Hypertensive retinopathy, Elevated urinary catecholamine level, ... |
ORPHA:892 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... |
OMIM:612526 |
Gm1-Gangliosidosis, Type I |
|
Death in infancy, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Vacuolated lymp... |
OMIM:230500 |
Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Ventricular arrhythmia |
OMIM:141000 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Rhegmatogenous retinal detachment, Lattice retinal degeneration |
OMIM:619248 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Sneddon Syndrome |
|
Hypertension, Stroke, Ischemic stroke, Cerebral hemorrhage |
OMIM:182410 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Nephritis, Thrombocytopenia |
ORPHA:3327 |
Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Caesarian section, Epistaxis |
ORPHA:403 |
Complement Component 2 Deficiency |
|
Purpura |
OMIM:217000 |
Vascular Hyalinosis |
|
Hematochezia, Vascular dilatation, Subarachnoid hemorrhage |
OMIM:277175 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... |
OMIM:617047 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Premature birth, Nonimmune hydrops fetalis, Anemia |
OMIM:618838 |
Stiff Skin Syndrome |
|
Retinal detachment, Hypertension, Nephrolithiasis |
ORPHA:2833 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Thrombocytopenia, Dry skin, Anemia |
OMIM:618116 |
Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus, Stroke, Short f... |
OMIM:300049 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Microretrognathia, Scapular winging, Depressed nasal bridge, Anteverted nares, Ventricular septal... |
OMIM:618870 |
Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Toe syndactyly, Cutis marmorata, Telangiectasia of the skin, Micrognathia, Pat... |
ORPHA:1556 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Diffuse alveolar hemorrhage, Splenomegaly, Anemia, Urticaria, Reduced natural kille... |
OMIM:616050 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration, Nephronophthisis |
OMIM:613615 |
Pituitary Adenoma 4, Acth-Secreting |
|
Edema, Poor wound healing, Nephrolithiasis, Facial erythema, Hypertension, Ecchymosis, Bruising s... |
OMIM:219090 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Micrognathia, Atrial septal defect, Patent foramen ovale, Syndactyly, Broa... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Micrognathia, Atrial septal defect, Patent foramen ovale, Syndactyly, Broa... |
ORPHA:353277 |
Wyburn-Mason Syndrome |
|
Peripheral arteriovenous fistula, Epistaxis, Subarachnoid hemorrhage, Abnormal cerebral vascular ... |
ORPHA:53719 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Abnormal nasal morphology, Postaxial hand poly... |
ORPHA:83473 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Osteolysis involving bones of the upper limbs, Hypoplasia of teeth, Depressed nasal t... |
ORPHA:88630 |
Cholesteryl Ester Storage Disease |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Death in infancy, Tricuspid regurgitation, Recurrent myoglobinuria, Cerebral hemorrhage, Dilated ... |
OMIM:620300 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia |
ORPHA:3316 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Chronic kidney disease, Subdural hemorrhage, Retinal hemorrhage |
ORPHA:25 |
Aicardi-Goutieres Syndrome 3 |
|
Death in childhood, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Pulmona... |
ORPHA:567548 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Tricuspid regurgitation, Patent ductus arteriosus, Dysplastic tricu... |
OMIM:612863 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormal palmar dermatoglyphics, Micrognat... |
OMIM:214800 |
Hepatorenocardiac Degenerative Fibrosis |
|
Portal hypertension, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstiti... |
OMIM:619902 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Vasculitis, Lymphopenia, Purpura |
ORPHA:1572 |
Smith-Magenis Syndrome |
|
Retinal detachment, Abnormality of the urinary system, Abnormal renal morphology, Abnormal heart ... |
OMIM:182290 |
Dural Sinus Malformation |
|
Cerebral hemorrhage, Subarachnoid hemorrhage, Vascular dilatation, Cerebellar hemorrhage, Subdura... |
ORPHA:97339 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Epistaxis, Bruising su... |
OMIM:601399 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration |
|
Acanthocytosis |
OMIM:607236 |
Holt-Oram Syndrome |
|
Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnormal carpal morphology... |
OMIM:142900 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Multiple renal cysts, Vascular dilatation |
ORPHA:2924 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... |
OMIM:171420 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent respiratory infections, Depressed nasal bridge, Ventricular septal defect, Overlapping ... |
ORPHA:163956 |
Pontocerebellar Hypoplasia, Type 14 |
|
Death in infancy, Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Hypoplastic sacrum, Ventricular septal defect, Aplasia/Hypoplas... |
OMIM:113000 |
Congenital Atransferrinemia |
|
Anemia |
ORPHA:1195 |
Leptospirosis |
|
Papilledema, Pericarditis, Hepatomegaly, First degree atrioventricular block, Cellular urinary ca... |
ORPHA:509 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Coarse metaphyseal trabecularization, Depressed nasal bridge, Anteverted nares, Patent ductus art... |
OMIM:618961 |
Hereditary Folate Malabsorption |
|
Recurrent urinary tract infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Thr... |
ORPHA:90045 |
Stankiewicz-Isidor Syndrome |
|
Ventricular septal defect, Micrognathia, Prominent nose, Short thumb, Patent ductus arteriosus, A... |
OMIM:617516 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertensive retinopathy, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level... |
ORPHA:276621 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Arachnodactyly, Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great a... |
OMIM:619910 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Hypertension, Br... |
OMIM:614653 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Atria... |
OMIM:201000 |
Renal Tubular Dysgenesis |
|
Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis |
ORPHA:3033 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... |
OMIM:618654 |
Frank-Ter Haar Syndrome |
|
Redundant neck skin, Micrognathia, Secundum atrial septal defect, Short palm, Atrial septal defec... |
OMIM:249420 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Urinary incontinence, Congenital contracture, Retinal arteriolar constri... |
ORPHA:191 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Promi... |
ORPHA:435638 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Quebec Platelet Disorder |
|
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi... |
OMIM:601709 |
Diamond-Blackfan Anemia 16 |
|
Anemia, Pulmonic stenosis |
OMIM:617408 |
Gray Platelet Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... |
OMIM:139090 |
Transcobalamin Deficiency |
|
Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop... |
ORPHA:859 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Retinal telangiectasia, Pulmo... |
ORPHA:774 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal insufficiency, Renal tubular dysfunction, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:289916 |
Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyl... |
ORPHA:1596 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
Erythrocytosis, Familial, 2 |
|
Plethora, Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose vein... |
OMIM:263400 |
Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Microphthalmia With Limb Anomalies |
|
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2n... |
OMIM:206920 |
Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Ventricular septal defec... |
ORPHA:1458 |
Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Asplenia, Left atrial isomer... |
OMIM:605376 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... |
ORPHA:98849 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent respiratory infections, Ventricular septal defect, Splenomegaly, Coarctation of aorta, ... |
OMIM:620210 |
16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Prominent fingertip pads, Decreased response to growth hormone stimulation test, T... |
ORPHA:485405 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pallor, Hypochromic anemia, Erythro... |
OMIM:600462 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure, Elevated ur... |
ORPHA:94080 |
Rh-Null, Regulator Type |
|
Hemolytic anemia, Jaundice, Stomatocytosis |
OMIM:268150 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Death in infancy, Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Nonimmune hydrop... |
OMIM:620167 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect, Micrognathia |
OMIM:608227 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Prominent nose, Patent ductus arteriosus, Wide nasal bridge, Atrial... |
OMIM:614886 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Thrombocytopenia, Anemia, Splenomegaly |
OMIM:610539 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Cryptorchidism, Tetralogy of Fallot, Testicular dysgenesis, Abnormality of thyroid physiology |
OMIM:615542 |
Acromicric Dysplasia |
|
Short metacarpal, Anteverted nares, Bulbous nose, Small hand, Abnormal femur morphology, Abnormal... |
ORPHA:969 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pancytopenia, Proteinuria, Polyuria, Premature birth, Renal salt wasting, Thrombocytopenia, Chron... |
OMIM:613845 |
Congenital Toxoplasmosis |
|
Premature birth, Jaundice, Anemia, Ascites, Thrombocytopenia |
ORPHA:858 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Micrognathia, Short palm, Clinodactyly of the 5th finger, Depressed nasal bridge, Broad hallux, C... |
OMIM:620073 |
Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Hyperthyroidism, Mitral stenosis, Ventricular septal defect, To... |
ORPHA:2008 |
Primary Angiitis Of The Central Nervous System |
|
Intracranial hemorrhage, Stroke, Transient ischemic attack, Cerebral vasculitis |
ORPHA:140989 |
3C Syndrome |
|
Recurrent respiratory infections, Finger syndactyly, Depressed nasal bridge, Ventricular septal d... |
ORPHA:7 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Ventricular septal defect, Bulbous nose, Patent ductus arteriosus, Pulmonary sequestration, Atria... |
OMIM:618330 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Retinal detachment |
ORPHA:436182 |
Meningococcal Meningitis |
|
Shock, Renal insufficiency, Stroke, Hypotension, Petechiae, Purpura |
ORPHA:33475 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Micrognathia, Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart, Clino... |
ORPHA:2001 |
Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Single transverse palmar crea... |
OMIM:618619 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Wide nose, Retrognathia, Choanal atresia, Muscular ventricular septal defect |
OMIM:619227 |
Senior-Loken Syndrome 4 |
|
Anemia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Mosaic Trisomy 1 |
|
Single transverse palmar crease, Finger clinodactyly, Pulmonary artery atresia, Absent distal int... |
ORPHA:1692 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Retinal detachment, Optic... |
ORPHA:370959 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abdominal aortic aneurys... |
ORPHA:91387 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Cong... |
OMIM:614473 |
Glanzmann Thrombasthenia 2 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... |
OMIM:619267 |
3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, 3-Methylglutaconic aciduria, Thrombocytopenia |
ORPHA:67048 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Mandibular prognathia, Diabetes mellitus, Single transverse palmar crease, Broad nasal tip, Clino... |
ORPHA:391372 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1248 |
Coach Syndrome 3 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht... |
OMIM:619113 |
Monosomy 18Q |
|
Mandibular prognathia, Depressed nasal bridge, Absence of the pulmonary valve, Abnormal palmar de... |
ORPHA:1600 |
Pulmonary Hypertension, Primary, 1 |
|
Pulmonary arterial medial hypertrophy, Pulmonary artery vasoconstriction, Telangiectasia, Pulmona... |
OMIM:178600 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Hypothyroidism, Patent ductus arterio... |
OMIM:619189 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:245900 |
Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia |
OMIM:615010 |
Chromosome 15Q26-Qter Deletion Syndrome |
|
Micrognathia, Cryptorchidism, Wide nasal bridge, Abnormal cardiac septum morphology, Short middle... |
OMIM:612626 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Mandibular prognathia, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of t... |
ORPHA:94066 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ... |
ORPHA:98850 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Micromelia, Cardiomegaly, Hypoplastic ischia... |
OMIM:613320 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Nodular pattern on pulmonary HRCT, Finger joint hypermobility, Ecchymosis, Emphysema, Repeated pn... |
OMIM:130050 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Right ventricular dilatation, Myopathy, Limb-girdle muscular dystrophy |
ORPHA:369847 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Anemia, Renal insufficiency, Dehydration |
ORPHA:28 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Coronary artery ather... |
ORPHA:280679 |
Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Dextrocardia, Macular atrophy, ... |
OMIM:615994 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Hitchhiker thumb, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbo... |
OMIM:614078 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Patent ductus arteriosus, Elliptocytosis, Micro... |
ORPHA:86818 |
Hiatt-Neu-Cooper Neurodevelopmental Syndrome |
|
Clinodactyly, Anteverted nares, Wide nasal bridge, 2-3 toe syndactyly |
OMIM:619311 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Cyanosis, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Pulmonary artery stenosis, A... |
ORPHA:75389 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Depressed nasal bridge, Ventricular septal defect, Single transverse palmar cre... |
OMIM:617061 |
Uveal Melanoma |
|
Retinal detachment, Vitreous hemorrhage, Abnormal fundus morphology |
ORPHA:39044 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Radial artery aplasia, Renal agenesis, Hypospadias, Nonimmune hydrops fet... |
ORPHA:124 |
Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Pancytopenia, Renal agenesis, Anemic pallor, Ectopic kidney, Thromb... |
OMIM:600901 |
Bardet-Biedl Syndrome 7 |
|
Depressed nasal bridge, Postaxial polydactyly, 2-3 toe syndactyly, Hypogonadism, Polydactyly, Mal... |
OMIM:615984 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Cardiogenic shock, Myofib... |
OMIM:619424 |
Ehlers-Danlos Syndrome, Classic Type, 2 |
|
Congenital hip dislocation, Talipes equinovarus, Recurrent sinusitis, Bruising susceptibility, Fr... |
OMIM:130010 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ulnar deviation of the hand, Ventricular septal defect, Proximal placement of thumb, Clinodactyly... |
OMIM:620113 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Dec... |
OMIM:619503 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology |
OMIM:609886 |
Gaucher Disease, Type Ii |
|
Double aortic arch, Trismus, Thrombocytopenia, Splenomegaly, Bronchiolitis, Recurrent aspiration ... |
OMIM:230900 |
Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Scapular winging, Descending aortic dissection, Bronchiectasis, Small thenar eminence, Ascending ... |
OMIM:620080 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Micrognathia, Metatarsus add... |
ORPHA:513456 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Mandibular prognathia, Short humerus, Wide nose, Short metacarpal, Rhizomelia, Depressed nasal ri... |
ORPHA:2831 |
Lethal Osteosclerotic Bone Dysplasia |
|
Anteverted nares, Micrognathia, Depressed nasal ridge, Mandibular aplasia, Short nose, Retrognathia |
ORPHA:1832 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Reticulocytosis |
OMIM:130600 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Decreased testicular size, Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Foam cells |
OMIM:269600 |
Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukopenia, Mitral regurgitati... |
OMIM:301080 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Single transverse palmar crease, Micrognathia, Metatarsus adductus, Cryptorchidism, Jaundice, Abn... |
OMIM:214110 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Emphysema, Pulmonary carcinoid tumor, Intrac... |
ORPHA:363618 |
Syndromic Diarrhea |
|
Lymphopenia, Bicuspid aortic valve, Ventricular septal defect, Increased mean platelet volume, Sp... |
ORPHA:84064 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Finger syndactyly, Ventricular septal defect, Aortopulmonary collateral arterie... |
OMIM:620025 |
Waardenburg Syndrome Type 2 |
|
Premature graying of hair, Abnormality of the pulmonary artery |
ORPHA:895 |
Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Pancytopenia, Renal agenesis, Anemic pallor, Ectopic kidney, Thromb... |
OMIM:227650 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Cryptorchidism, Patent ductus arteriosus, Methylmalonic aciduria, Coarctation of aorta, Normochro... |
OMIM:614857 |
Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Dental malocclusion, Short columella, Short nose, Short distal phalanx of... |
OMIM:155050 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Abnormal renal glomerulus morphology, Reduced subcutaneous adipose tissue, Renal insufficiency, M... |
OMIM:137940 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Hypoplasia of the maxilla, Depressed nasal ridge, Atrial septal defect, Thick nasal alae, Hypopla... |
ORPHA:79345 |
Gaucher Disease Type 1 |
|
Pancytopenia, Proteinuria, Pericardial effusion, Hypersplenism, Thrombocytopenia, Splenomegaly, P... |
ORPHA:77259 |
Neonatal Lupus Erythematosus |
|
Abnormal bleeding, Prolonged QT interval, Hemolytic anemia, Pancytopenia, Aplastic anemia, Heart ... |
ORPHA:398124 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Bilateral lung agenesis, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctatio... |
OMIM:601612 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Renal insufficiency, Cutis marmorata, Abnormality of the kidney, Glomeruloneph... |
ORPHA:289390 |
Stickler Syndrome, Type V |
|
Retinal detachment, Vitreoretinopathy |
OMIM:614284 |
Mosaic Trisomy 16 |
|
Syndactyly, Ventricular septal defect, Single transverse palmar crease, Maternal diabetes, Abnorm... |
ORPHA:1708 |
Athrombia, Essential |
|
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion |
OMIM:209050 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Ureteral stenosis, Recurrent in... |
ORPHA:900 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Death in infancy, Delayed umbilical cord separation, Thrombo... |
OMIM:617475 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Hallux valgus, Diabetes mellitus, Micrognathia, Secundum atrial septal defect, Prominent nose, Cl... |
OMIM:620194 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Dextrocardia, Camptodactyly of finger, Micrognathia, Cryptorchidism, P... |
ORPHA:2863 |
Erythrocytosis, Familial, 1 |
|
Hypertension, Cerebral hemorrhage, Myocardial infarction |
OMIM:133100 |
Fibrinolytic Defect |
|
Spontaneous hematomas |
OMIM:134900 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Death in infancy, Dicarboxylic aciduria, Congestive heart failure, Thrombocytopenia, Dilated card... |
OMIM:611126 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Bilateral single transverse palmar creases, Proximal placement of thumb, A... |
ORPHA:1120 |
Mulibrey Nanism |
|
Congestive heart failure, Nephroblastoma, Ascites, Hydrops fetalis |
OMIM:253250 |
Incontinentia Pigmenti |
|
Retinal detachment, Abnormal chorioretinal morphology, Camptodactyly of finger, Telangiectasia of... |
ORPHA:464 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Renal insufficiency, Recurrent urinary tract infections, Tachycardia, Glomerulonephritis, ... |
ORPHA:36234 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Decreased testicular size, Tachycardia, Cyanosis, Splenic rupture, Abnormal um... |
ORPHA:335 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Cardiomyopathy... |
OMIM:614922 |
Timothy Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Bronchitis, Cardiomegaly, Pneumonia, Hypothyro... |
OMIM:601005 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Narrow nasal ridge, Underdeveloped nasal alae, Micrognathia, Long fingers, Retrognathia, Varicose... |
OMIM:618343 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Abnormal nostril morphology, Ventricular septal defect, Abnormal morphology... |
ORPHA:3469 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Optic atrophy, Myopathy, Focal segmental glome... |
OMIM:616239 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis |
OMIM:126320 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micrognathia,... |
ORPHA:171839 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Depressed nasal bridge, Decreased response to growth hormone stimulation test... |
OMIM:618223 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Erythema, Vasculitis, Urticaria, Acrocyanosis, Purpura |
ORPHA:343 |
Acrocephalopolydactyly |
|
Depressed nasal ridge, Hepatosplenomegaly, Short long bone, Limb undergrowth, Short nose, Brachyd... |
ORPHA:221054 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Cerebral ischemia, Arteritis... |
ORPHA:494424 |
Plasma Clot Retraction Factor, Deficiency Of |
|
Gastrointestinal hemorrhage, Bruising susceptibility, Poor wound healing |
OMIM:262800 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion, Cryptorchidism, Small hand, Wide nasal bridge, Broad finger, Clinodactyly, ... |
OMIM:614684 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Bowing of the long bones, Rhizomelia, Ventricular septal defect, Proximal placement of thumb, Mic... |
ORPHA:93267 |
Aortic Arch Interruption |
|
Cyanosis, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valv... |
ORPHA:2299 |
Wt Limb-Blood Syndrome |
|
Pancytopenia, Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia |
OMIM:194350 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Hypertension, Renal tu... |
OMIM:610205 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen... |
OMIM:619313 |
Cardiomyopathy, Dilated, 1B |
|
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial con... |
OMIM:600884 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertensive retinopathy, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level... |
ORPHA:29072 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Brachydactyly, Ventricular septal defect, Hypoplasia of the maxilla, Clinodactyly, Atr... |
OMIM:614261 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Persistent left superior vena cava, Thrombocytopenia |
OMIM:619151 |
Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Ulnar deviation of the wrist, Camp... |
ORPHA:1529 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Cryptorchidism, Stage 5 chr... |
OMIM:617575 |
Neurooculocardiogenitourinary Syndrome |
|
Redundant neck skin, Ventricular septal defect, Prominent nasal bridge, Cardiomegaly, Bilateral c... |
OMIM:618652 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Single transverse palmar crease, Atrial septal defec... |
OMIM:309801 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ... |
OMIM:251450 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren... |
OMIM:256300 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal defect |
OMIM:235750 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Ventricular septal defect, Choanal atresia, Micrognathia, Cryptorchidism, Pat... |
OMIM:300712 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
Hypophosphatasia, Infantile |
|
Death in infancy, Elevated urine pyrophosphate, Polyhydramnios, Hypercalciuria, Nephrocalcinosis,... |
OMIM:241500 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... |
OMIM:243150 |
Brucellosis |
|
Pericarditis, Transient ischemic attack, Glomerulonephritis, Premature birth, Miscarriage, Hypers... |
ORPHA:1304 |
Hemochromatosis, Neonatal |
|
Abnormal bleeding, Nonimmune hydrops fetalis, Oligohydramnios |
OMIM:231100 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Hypoplastic right heart, Depressed nasal bridge, Anteverted nares, Ventricular septal... |
OMIM:616894 |
Abetalipoproteinemia |
|
Acanthocytosis |
OMIM:200100 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Scapular winging, Abnormal pulmonary valve morphology, Cryptorch... |
ORPHA:500 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Overlapping toe, Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, ... |
OMIM:614262 |
Lymphatic Malformation 13 |
|
Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Fetal pericardial effusion, Mitr... |
OMIM:620244 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Palmoplantar hyperkeratosis, Clinodactyly of the 5th finger, Depressed nasal bridge, Pulmonary ar... |
OMIM:280000 |
Autoimmune Lymphoproliferative Syndrome |
|
Hydrops fetalis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-... |
ORPHA:3261 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Distal Duplication 18Q |
|
Anteverted nares, Prominent nasal bridge, Choanal atresia, Micrognathia, Carious teeth, Cryptorch... |
ORPHA:1716 |
Mcleod Syndrome |
|
Atrial fibrillation, Acanthocytosis, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy |
OMIM:300842 |
Familial Isolated Restrictive Cardiomyopathy |
|
Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventricular arrhythmi... |
ORPHA:75249 |
Propionic Acidemia |
|
Pancytopenia, Increased level of hippuric acid in urine, Thrombocytopenia, Cerebellar hemorrhage,... |
OMIM:606054 |
Polysyndactyly With Cardiac Malformation |
|
Ventricular septal defect, Renal cyst, Stillbirth, Atrial septal defect, Hepatic cysts |
OMIM:263630 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Autosomal Recessive Stickler Syndrome |
|
Retinal detachment, Vitreoretinopathy |
ORPHA:250984 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Ventricular septal defect, Depressed nasal bridge, Cutis marmorata, Polydactyly, Leuk... |
OMIM:602501 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis |
OMIM:619428 |
Gaucher Disease Type 3 |
|
Pancytopenia, Proteinuria, Pericardial effusion, Thrombocytopenia, Splenomegaly, Hydrops fetalis,... |
ORPHA:77261 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Edema, Nephrotic syndrome, Focal segmental glom... |
OMIM:254900 |
Stickler Syndrome, Type Ii |
|
Retinal detachment, Abnormal vitreous humor morphology |
OMIM:604841 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f... |
ORPHA:363417 |
Galloway-Mowat Syndrome 6 |
|
Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:618347 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... |
ORPHA:656 |
Prieto Syndrome |
|
11 pairs of ribs, Prominent nose, Coxa valga, Cryptorchidism, Talipes equinovarus, Radial deviati... |
OMIM:309610 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... |
OMIM:616468 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Glomerulopathy, Renal insufficiency, Ketonuria, Pulmonary embolism, Hemolytic-uremic syndrome, Me... |
ORPHA:79282 |
Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Nephrotic syndrome |
ORPHA:69061 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
22Q11.2 Deletion Syndrome |
|
Micrognathia, Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia of the thymus, ... |
ORPHA:567 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Bicuspid aortic valve, Anteverted nares, Broad hallux, Broad nasal tip, Micrognathia, Sandal gap,... |
OMIM:618529 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Megaloblastic anemia, Stroke-like episode,... |
OMIM:222300 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Anemia |
ORPHA:100024 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short femur, Anteverted nares, Ventricular septal defect, Fractured radius, Cardiomegaly, Microgn... |
OMIM:616897 |
Atelis Syndrome 1 |
|
Ventricular septal defect, Prominent nose, Carious teeth, Thrombocytopenia, Bronchiectasis, Leuko... |
OMIM:620184 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Refsum Disease, Classic |
|
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Abnormal renal physiology, Li... |
OMIM:266500 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Abnormal bleeding, Retinal detachment, Decreased muscle mass, Arterial dissection, Congestive hea... |
ORPHA:1900 |
Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Complete atriovent... |
OMIM:264480 |
Omodysplasia 1 |
|
Short humerus, Ventricular septal defect, Depressed nasal bridge, Rhizomelia, Micrognathia, Incre... |
OMIM:258315 |
Osteoporosis-Pseudoglioma Syndrome |
|
Retinal detachment, Exudative retinopathy, Abnormal vitreous humor morphology, Exudative vitreore... |
ORPHA:2788 |
Fetal Encasement Syndrome |
|
Bilateral trilobed lung, Tetralogy of Fallot, Upper limb undergrowth, Lower limb undergrowth |
OMIM:613630 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Increased size of nasopharyn... |
ORPHA:457395 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:616435 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Narrow nasal bridge, Hyperextensibility of the finger joints, Macroorchidism, Ventricular septal ... |
OMIM:309520 |
Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... |
OMIM:617730 |
Arterial Tortuosity Syndrome |
|
Redundant skin, Coxa vara, Clinodactyly of the 5th finger, Prematurely aged appearance, Arachnoda... |
ORPHA:3342 |
Alg9-Cdg |
|
Hepatomegaly, Torticollis, Tricuspid regurgitation, Ventricular septal defect, Ureteral hypoplasi... |
ORPHA:79328 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Depressed nasal bridge, Decreased proportion of CD8-positive T cells, Bronchiolitis obliterans, H... |
OMIM:617241 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Short metacarpal, Prominent superficial veins, Depressed nasal bridge,... |
OMIM:612350 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, Broad nasal tip, Precocious puberty, Cryptorchidism, 2-3 toe syndactyl... |
ORPHA:3306 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Redundant neck skin, Depressed nasal bridge, Anteverted nares, Proximal placement of ... |
OMIM:217980 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Skeletal muscle atrophy, Retinal detachment, Flexion contracture, Dilated cardiomyopathy, Myocard... |
OMIM:253800 |
Kagami-Ogata Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Micrognathia, Hypoplasia of ... |
OMIM:608149 |
Spondylo-Ocular Syndrome |
|
Retinal detachment, Ventricular septal defect, Facial hypotonia |
ORPHA:85194 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Achondrogenesis |
|
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios |
ORPHA:932 |
Immunodeficiency 46 |
|
Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hemolytic-uremic syndrome, Thrombocytopenia |
OMIM:614727 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Mungan Syndrome |
|
Perimembranous ventricular septal defect, Pulmonic stenosis |
OMIM:611376 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Atrial septal defect, Contracture of the proximal interphalangeal j... |
OMIM:300166 |
Lowry-Maclean Syndrome |
|
Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Bila... |
ORPHA:2409 |
Formiminoglutamic Aciduria |
|
Abnormal concentration of acylcarnitine in the urine, Anemia, Megaloblastic anemia |
ORPHA:51208 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... |
ORPHA:615 |
Isolated Agammaglobulinemia |
|
Abnormality of neutrophils, Thrombocytopenia, Skin ulcer, Abnormal lymphocyte morphology, Anemia |
ORPHA:229717 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... |
OMIM:263200 |
Schimke Immuno-Osseous Dysplasia |
|
Neutropenia, Nephropathy, Nephrotic range proteinuria, Premature birth, Minimal change glomerulon... |
ORPHA:1830 |
Lesch-Nyhan Syndrome |
|
Hematuria, Renal insufficiency, Anemia |
ORPHA:510 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... |
ORPHA:158057 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Wid... |
OMIM:616920 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Prominent fingertip pads, Ventricular septal defect, Overlapping toe, Cryptorchidism, Bulbous nos... |
OMIM:618494 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Clinodactyly of the 5th finger, Convex nasal ridge, Ventricular septal defect, Wide nasal bridge |
OMIM:314320 |
Filippi Syndrome |
|
Enlarged epiphyses, Wide nose, Finger syndactyly, Ventricular septal defect, Prominent nasal brid... |
ORPHA:3255 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Arachnodactyly, Micrognathia, Bulbous nose, Wide nasal bridge, Atrial septal defect, Malar flatte... |
ORPHA:93946 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Abnormal bleeding, Retinal detachment, Decreased muscle mass, Abnormal heart valve morphology, Cr... |
ORPHA:2953 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect, Micrognathia, Long nose, Carious teeth, Patent ductus arteriosus, Dent... |
OMIM:613680 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Cyanosis, Dextrocardia, Micrognathia, Secundum atrial septal de... |
ORPHA:2257 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Micrognathia, Patent ductus arteriosus, Symphalangism affecting the phal... |
ORPHA:2547 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Retinal detachment, Muscular dystrophy |
OMIM:615181 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Absent pulmonary artery, Spl... |
OMIM:600460 |
Ring Chromosome 8 Syndrome |
|
Deviation of finger, Short nose, Anteverted nares |
ORPHA:1450 |
Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Nephrotic syndrome, Focal segment... |
ORPHA:347 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Death in infancy, Pericarditis, Proteinuria, Nonimmune hydrops fetalis, Edema, Pericardial effusi... |
OMIM:212065 |
Contractural Arachnodactyly, Congenital |
|
Hip contracture, Bowing of the long bones, Ventricular septal defect, Bicuspid aortic valve, Arac... |
OMIM:121050 |
Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter... |
ORPHA:3097 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Rod-cone dystrophy, Nephronophthisis |
ORPHA:140976 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Syndactyly, Depressed nasal bridge, Ventricular septal defect, Abnormality... |
ORPHA:369891 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Renal insufficiency, Postural hypotension with compens... |
ORPHA:85443 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect, Anteverted nares, Clinodactyly, Small hand, Wid... |
OMIM:619980 |
Aicardi-Goutieres Syndrome 5 |
|
Dry skin, Scaling skin, Thrombocytopenia |
OMIM:612952 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Ventricular septal defect, Rocker bottom foot, Micrognathia, Recurren... |
ORPHA:3078 |
Cataract 21, Multiple Types |
|
Retinal detachment, Macular hypoplasia |
OMIM:610202 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular filtrati... |
OMIM:162000 |
Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact... |
OMIM:183600 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic lef... |
OMIM:616276 |
Fabry Disease |
|
Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta... |
OMIM:301500 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Prolonged prothrombin time, Pulm... |
OMIM:616559 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Delayed epiphyseal ossification, Wide nasal bridge, Genu valgum, Cutaneous syndactyly, Clinodacty... |
ORPHA:166024 |
Denys-Drash Syndrome |
|
Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, Congenital diaphragmatic hernia... |
OMIM:194080 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Absent nipple, Ventricular septal defect, Micrognathia, Hypoplastic pulmonary ... |
OMIM:618021 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Hepatosplenomegaly |
OMIM:613101 |
Growth Delay Due To Insulin-Like Growth Factor I Resistance |
|
Short palm, Clinodactyly, Wide nasal bridge, Broad nasal tip |
ORPHA:73273 |
Orthostatic Hypotension 2 |
|
Anemia, Orthostatic hypotension, Decreased glomerular filtration rate |
OMIM:618182 |
Ogden Syndrome |
|
Microretrognathia, Ventricular septal defect, Broad hallux, Underdeveloped nasal alae, Cryptorchi... |
ORPHA:276432 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Rosaï-Dorfman Disease |
|
Erythema, Anemia |
ORPHA:158014 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ketonuria, Cardiac arrest, Edema, Leukocytosis, Dilated cardiomyopathy, Jaundice, Dehydration, Le... |
ORPHA:20 |
Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Epistaxis, Hematochezia, Cardiomyopathy, Pulmonary fibrosis, Gingival bl... |
OMIM:203300 |
Takayasu Arteritis |
|
Myocardial infarction, Vascular dilatation, Vasculitis, Arterial stenosis, Skin ulcer, Anemia, Hy... |
ORPHA:3287 |
Donnai-Barrow Syndrome |
|
Retinal detachment, Retinal dystrophy, Ventricular septal defect, Congenital diaphragmatic hernia... |
OMIM:222448 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:300635 |
Joubert Syndrome 16 |
|
Retinal dystrophy, Renal cyst, Nephronophthisis |
OMIM:614465 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Short thumb, Patent ductus arteriosus, Hyp... |
ORPHA:1972 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Non-Distal Duplication 10Q |
|
Depressed nasal bridge, Micrognathia, Cryptorchidism, Short nose, Convex nasal ridge |
ORPHA:1695 |
Autosomal Recessive Amelia |
|
Micrognathia, Cryptorchidism, Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology... |
ORPHA:1027 |
Recombinant 8 Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Redundant skin, Micrognathia... |
ORPHA:96167 |
Cushing Disease |
|
Increased urinary cortisol level, Lymphopenia, Plethora, Dorsocervical fat pad, Myocardial infarc... |
ORPHA:96253 |
Walker-Warburg Syndrome |
|
Skeletal muscle atrophy, Retinal detachment, Hypoplasia of penis, Retinal dystrophy, Chorioretina... |
ORPHA:899 |
Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... |
OMIM:311300 |
Potocki-Shaffer Syndrome |
|
Hypertension, Micropenis, Nephroblastoma, Anemia |
ORPHA:52022 |
Seckel Syndrome 9 |
|
Recurrent respiratory infections, Ventricular septal defect, Micrognathia, Pulmonary artery hypop... |
OMIM:616777 |
Ehlers-Danlos Syndrome, Periodontal Type, 2 |
|
Prominent superficial veins, Gingival bleeding, Nephroblastoma, Bruising susceptibility, Fragile ... |
OMIM:617174 |
Glycogen Storage Disease Ia |
|
Abnormal bleeding, Hepatomegaly, Decreased muscle mass, Proteinuria, Nephrolithiasis, Hypertensio... |
OMIM:232200 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Autoimmune thrombocytopenia, Raynaud phenomenon, Joint swelling, T lymphocytopenia, Neutropenia, ... |
OMIM:607944 |
Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Pancytopenia, Proteinuria, Transient ischemic attack, Bilateral cryptorchidi... |
OMIM:242900 |
Leukoencephalopathy With Calcifications And Cysts |
|
Stroke, Cerebral hemorrhage |
ORPHA:542310 |
Acrodysostosis |
|
Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Depressed nasal ridge, Short metata... |
ORPHA:950 |
Wrinkly Skin Syndrome |
|
Microretrognathia, Delayed eruption of teeth, Scapular winging, Congenital hip dislocation, Redun... |
OMIM:278250 |
Burn-Mckeown Syndrome |
|
Mandibular prognathia, Ventricular septal defect, Prominent nasal bridge, Choanal atresia, Underd... |
OMIM:608572 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... |
OMIM:205400 |
Gaucher Disease, Type I |
|
Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypertension, Mitral regu... |
OMIM:230800 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Prominent nasal bridge, Microgna... |
ORPHA:96097 |
Primary Release Disorder Of Platelets |
|
Abnormal bleeding, Spontaneous, recurrent epistaxis, Bruising susceptibility, Menorrhagia |
OMIM:176630 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Convex nasal ridge, Ventricular septal defect, Wide nasal bridge, Fifth finger distal phalanx cli... |
ORPHA:3369 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Hallux valgus, Prominent superficial veins, Prematurely aged appearance, Redundant skin, Carotid ... |
OMIM:618000 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Anteverted nares, Carious teeth, Cryptorchidism, Abnormality of the elbow, Pulmonic stenosis, Hyp... |
ORPHA:2701 |
Encephalopathy, Ethylmalonic |
|
Acrocyanosis, Petechiae |
OMIM:602473 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Fryns Syndrome |
|
Anteverted nares, Micrognathia, Cryptorchidism, Abnormal aortic arch morphology, Wide nasal bridg... |
ORPHA:2059 |
Amme Complex |
|
Hematuria, Elliptocytosis |
OMIM:300194 |
Loeys-Dietz Syndrome 4 |
|
Bicuspid aortic valve, Arachnodactyly, Protrusio acetabuli, Arterial tortuosity, Pneumothorax, Re... |
OMIM:614816 |
American Trypanosomiasis |
|
Edema, Periorbital edema, Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Pa... |
ORPHA:3386 |
Transaldolase Deficiency |
|
Pancytopenia, Ventricular septal defect, Depressed nasal bridge, Thrombocytopenia, Patent ductus ... |
OMIM:606003 |
Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... |
OMIM:615888 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Depressed nasal bridge, Cryptorchidism, Bulbous nose, Transposition of the great arteries, Talipe... |
OMIM:616789 |
Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia |
OMIM:188025 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:404 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Arachnodactyly, Poor wound healing, Mitral valve prolapse, Bilateral talipes equinovarus, Talipes... |
OMIM:615539 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Livedo reticularis, Premature coronary ar... |
OMIM:611788 |
Achondrogenesis Type 1B |
|
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios |
ORPHA:93298 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Reduced subcutaneous adipose tissue, Anteverted nares, Overlapping toe, Underdeveloped nasal alae... |
OMIM:613026 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... |
ORPHA:730 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... |
ORPHA:3320 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Decreased muscle mass, Prominent veins on trunk, Subretinal pigment epithelium hemorrhage |
ORPHA:357074 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage |
ORPHA:398189 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Wide nose, Long nose, Patent ductus arteriosus, Anomalous pulmonary venous return, Tetralogy of F... |
ORPHA:2184 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Short metacarpal, Diabetes mellitus, Depressed nasal bridge, Anteverted na... |
OMIM:614613 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Cerebral berry aneurysm, Mitral valve prolapse, Hypertension, Mitral regurgi... |
OMIM:173900 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Polyhydramnios, Splenomegaly, Jaundice, Stomatocytosis, Fetal distress |
OMIM:608885 |
Supravalvular Aortic Stenosis |
|
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis |
OMIM:185500 |
Meckel Syndrome 13 |
|
Flexion contracture, Retinopathy, Polycystic kidney dysplasia |
OMIM:617562 |
Cardiac-Urogenital Syndrome |
|
Scimitar anomaly, Atrial septal defect, Mesocardia, Accessory spleen, Prolonged bleeding time, Co... |
OMIM:618280 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Polycystic ovaries |
ORPHA:280356 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... |
ORPHA:85451 |
Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Ventricular septal defect, Sandal gap, Mi... |
OMIM:270450 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Pallor, ... |
ORPHA:99125 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Stage 5 chronic kidney disease, Methylmalonic aciduria, Dehydration, Tubul... |
OMIM:251000 |
Hermansky-Pudlak Syndrome 4 |
|
Abnormal bleeding, Absent platelet dense granules, Epistaxis, Menorrhagia, Bruising susceptibility |
OMIM:614073 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Retinal detachment, Congestive heart failure, Hypertension, Glycosuria, ... |
OMIM:617253 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Epistaxis, Hypercalciuria, Intracranial hemorrhage, Hypertension |
ORPHA:251274 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Hypospadias, Microcytic anemia, Cryptorchidism, Bruising susceptibility, HbH hemoglobin |
ORPHA:98791 |
Pallister-Hall-Like Syndrome |
|
Toe syndactyly, Depressed nasal bridge, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip... |
OMIM:241800 |
Halperin-Birk Syndrome |
|
Perimembranous ventricular septal defect, Hip dislocation, Talipes equinovarus, Micrognathia |
OMIM:618651 |
Incontinentia Pigmenti |
|
Hypoplasia of the fovea, Retinal detachment, Retinal vascular proliferation, Optic atrophy, Retin... |
OMIM:308300 |
Joubert Syndrome 20 |
|
Retinopathy, Renal cyst |
OMIM:614970 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular resist... |
ORPHA:70591 |
Warsaw Breakage Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Cutis marmorata, 2-3 toe syndactyly, ... |
OMIM:613398 |
Cirrhotic Cardiomyopathy |
|
Abnormal bleeding, Prolonged QT interval, Elevated jugular venous pressure, Left atrial enlargeme... |
ORPHA:57777 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Anteverted nares, Cutis marmorata, Single transverse palmar crease, Wide nasal bridge... |
OMIM:614701 |
Dilated Cardiomyopathy With Ataxia |
|
Bilateral cryptorchidism, Muscular ventricular septal defect, Dilated cardiomyopathy, Hypochromic... |
ORPHA:66634 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Ventricular septal defect, Anteverted nares, Choanal atresia, Micrognathia, Proximal placement of... |
OMIM:610536 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
Al-Raqad Syndrome |
|
Atrial septal defect, Short nose, Sandal gap, Brachydactyly |
OMIM:616459 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Absent gallbladder, Hyperextensibility of the finger joints, Ventricular septal defect,... |
ORPHA:163979 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Chorioretinal dysplasia, Chorioretinal lacunae, Optic atrophy, Retinal fold |
OMIM:152950 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Hypertriglyceridemia |
OMIM:620282 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Precocious atherosclerosis, Adrenal hypoplasia, Mitral valve prolaps... |
ORPHA:230839 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
Joint Laxity, Short Stature, And Myopia |
|
Retinal detachment, Chorioretinal coloboma |
OMIM:617662 |
Achondrogenesis Type 1A |
|
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios |
ORPHA:93299 |
Suleiman-El-Hattab Syndrome |
|
Microretrognathia, Recurrent respiratory infections, Ventricular septal defect, Single transverse... |
OMIM:618950 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Congestive heart failure, Myoglobinuria, Dilated cardiomyopathy, Hydrops fetalis, Abnormality of ... |
OMIM:609015 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Micrognathia, Split hand, Aplasia/Hypoplasia of the lungs, Malar f... |
ORPHA:2145 |
Schnitzler Syndrome |
|
Splenomegaly, Leukocytosis, Vasculitis, Urticaria, Anemia |
ORPHA:37748 |
Arterial Tortuosity Syndrome |
|
Ventricular hypertrophy, Carotid artery dissection, Arachnodactyly, Progeroid facial appearance, ... |
OMIM:208050 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial effusion, Thr... |
OMIM:613011 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Anteverted nares, Cutis marmorata, Cryptorchidism, Patent ductus arter... |
OMIM:612938 |
Sengers Syndrome |
|
Cardiac arrest, Sudden cardiac death, 3-Methylglutaconic aciduria, Pulmonary arterial hypertensio... |
OMIM:212350 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect, Wide nasal bridge, Short foot |
ORPHA:228399 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Prominent superficial blood vessels, Micrognathi... |
OMIM:619472 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Increased urinary potassium, Intracranial hemorrhage, Hypertension, Palpitations, Abno... |
ORPHA:231625 |
Thyrocerebroretinal Syndrome |
|
Nephritis, Thrombocytopenia |
OMIM:274240 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Lymphopenia, Renal insufficiency, Proteinuria, Edema, Raynaud phenomenon, Pericardial... |
ORPHA:93552 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid hyperplasia |
OMIM:237800 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Retinal detachment, Optic disc pallor, Ventricular septal defect, Hypospadi... |
ORPHA:464311 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia |
ORPHA:54028 |
Farber Disease |
|
CNS foam cells, Thrombocytopenia, Hydrops fetalis, Hepatosplenomegaly, Joint swelling, Cherry red... |
ORPHA:333 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Premature birth, Polyuria, Edem... |
OMIM:602522 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Broad hallux, Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of the finge... |
OMIM:614749 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Skin ulcer, Dehydration, Leukopenia, Anemia |
ORPHA:33355 |
Choreoacanthocytosis |
|
Acanthocytosis |
OMIM:200150 |
Acute Erythroid Leukemia |
|
Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia |
ORPHA:318 |
Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Pancytopenia, Renal agenesis, Anemic pallor, Ectopic kidney, Thromb... |
OMIM:227645 |
Oculofaciocardiodental Syndrome |
|
Retinal detachment, Patent ductus arteriosus, Mitral valve prolapse, Flexion contracture of the 2... |
ORPHA:2712 |
Fibrochondrogenesis 2 |
|
Anteverted nares, Micrognathia, Metaphyseal cupping, Hypoplastic ilia, Metaphyseal widening, Hypo... |
OMIM:614524 |
Williams Syndrome |
|
Bicuspid aortic valve, Redundant skin, Abnormal cerebral vascular morphology, Cardiomegaly, Micro... |
ORPHA:904 |
Melas |
|
Wolff-Parkinson-White syndrome, Proteinuria, Cardiac conduction abnormality, Nephropathy, Dilated... |
ORPHA:550 |
Keipert Syndrome |
|
Wide nose, Broad hallux, Prominent nose, Broad distal phalanx of finger, Camptodactyly, Clinodact... |
OMIM:301026 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Ventricular septal defect, Arachnodactyly, Cryptorchidism, Aortic root aneurysm, Talipes equinova... |
OMIM:301039 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphology, Ascending tubular a... |
ORPHA:449400 |
Hepatoportal Sclerosis |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Thrombocytope... |
ORPHA:64743 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Nephrolithiasis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular... |
ORPHA:369929 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Prominent nose, Micrognathia, Hypoplasia of the maxilla, Short metatarsal,... |
ORPHA:439822 |
Bleeding Disorder, Platelet-Type, 21 |
|
Abnormal bleeding, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Men... |
OMIM:617443 |
Hamamy Syndrome |
|
Hypoparathyroidism, Syndactyly, Long toe, Anteverted nares, Down-sloping shoulders, Micrognathia,... |
OMIM:611174 |
Knobloch Syndrome |
|
Retinal detachment, Dextrocardia, Patent ductus arteriosus, Abnormal vitreous humor morphology, M... |
ORPHA:1571 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Diabetes mellitus, Bicuspid aortic valve, Anteverted nares, Prominent nasal bridge, Ventricular s... |
ORPHA:500159 |
Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
Trichinellosis |
|
Retinal hemorrhage, Abnormal optic nerve morphology, Facial palsy, Central retinal artery occlusion |
ORPHA:863 |
Sympathetic Ophthalmia |
|
Retinal detachment, Papilledema, Vitreous floaters, Vitritis, Retinal hemorrhage, Macular edema, ... |
ORPHA:79098 |
Hermansky-Pudlak Syndrome 5 |
|
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... |
OMIM:614074 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Nonimmune hydrops fetalis, Polyhydramnios, Portal hypertension, Fetal akinesia sequence, Congesti... |
ORPHA:367 |
Trisomy 8P |
|
Short fourth metatarsal, Abnormal atrioventricular connection, Single transverse palmar crease, A... |
ORPHA:264450 |
Feingold Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Anteverted nares, Tricuspid stenosis, Micrognathia, ... |
OMIM:164280 |
Ciliary Dyskinesia, Primary, 30 |
|
Recurrent respiratory infections, Nasal polyposis, Ventricular septal defect, Dextrocardia, Situs... |
OMIM:616037 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Cryptorchidism, Patent ductus arteriosus, Bulbous nose, Wid... |
ORPHA:250989 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Death in infancy, Nonimmune hydrops fetalis, Prolonged prothrombin time, Pleural effusion, Ascites |
OMIM:617049 |
Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Decreased circulating osteocalcin level, Central diabetes insipidus, Short nose |
OMIM:125700 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal bleeding, Death in infancy, Pancytopenia, Unilateral renal agenesis, Splenomegaly, Paten... |
OMIM:614576 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Hypoplasia of penis, Splenomegaly, Cryptorchidism, Spherocytosis, Patent ductus... |
ORPHA:251066 |
Zika Virus Disease |
|
Thrombocytopenia, Miscarriage, Subcutaneous hemorrhage, Edema |
ORPHA:448237 |
Achondrogenesis Type 2 |
|
Retinal detachment, Abnormal vitreous humor morphology |
ORPHA:93296 |
Beta-Ketothiolase Deficiency |
|
Ketonuria, Edema, Leukocytosis, Dehydration, Hypertension, Pallor, Hypotension, Thrombocytosis |
ORPHA:134 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Boomerang Dysplasia |
|
Hydrops fetalis, Polyhydramnios |
ORPHA:1263 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, Arachnodactyly, Single transverse palmar crease, Overlapping toe, Under... |
ORPHA:83617 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Decreased fetal movement, Hydrops fetalis, Polyhydramnios |
OMIM:255320 |
Chung-Jansen Syndrome |
|
Anteverted nares, Micrognathia, Tapered finger, Cryptorchidism, Hip dysplasia, Clinodactyly of th... |
OMIM:617991 |
Terminal Osseous Dysplasia |
|
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh... |
OMIM:300244 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Cryptorchidism, Micropenis, Thrombocytopenia, Death in childhood |
OMIM:615597 |
Pierpont Syndrome |
|
Wide nose, Broad nasal tip, Cryptorchidism, Short toe, Broad palm, Short foot, Deep palmar crease... |
OMIM:602342 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Femoral bowing, Abnormal shoulder morphology, Atrial septal defect, Phocomelia, Atr... |
OMIM:274000 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Hepatic cysts, Situs inversus totalis, Stillbirth, Aortic valve... |
OMIM:615415 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Retinal detachment, Hypopigmentation of the fundus, Oligosacchariduria |
ORPHA:163649 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Anemia |
ORPHA:2668 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Cutis marmorata, Abnormal pulmonar... |
ORPHA:974 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Premature birth, B lymphocytopenia, Reduced natural killer cell count, Petechiae |
OMIM:620133 |
Wolcott-Rallison Syndrome |
|
Metaphyseal dysplasia, Neonatal insulin-dependent diabetes mellitus, Jaundice, Central hypothyroi... |
ORPHA:1667 |
Coffin-Siris Syndrome 6 |
|
Depressed nasal bridge, Micrognathia, Broad nasal tip, Atrial septal defect, Clinodactyly, Retrog... |
OMIM:617808 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Malar flattening, Short nose, Retrognathia, Broad nasal tip |
OMIM:613670 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Pancreatic fibrosis, Ventricular septal defect, Depressed nasal bridge, Postaxial pol... |
OMIM:615503 |
Alg3-Cdg |
|
Abnormality of the nose, Abnormality of the endocrine system, Metaphyseal chondrodysplasia, Abnor... |
ORPHA:79321 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph... |
OMIM:154400 |
Renal Coloboma Syndrome |
|
Multicystic kidney dysplasia, Renal insufficiency, Optic disc coloboma, Optic nerve dysplasia, Re... |
ORPHA:1475 |
Weill-Marchesani Syndrome |
|
Ventricular septal defect, Short thumb, Pulmonic stenosis, Aortic valve stenosis, Brachydactyly |
ORPHA:3449 |
Chromosome 5Q12 Deletion Syndrome |
|
Long toe, Ventricular septal defect, Prominent nose, Micrognathia, Long fingers, Patent ductus ar... |
OMIM:615668 |
Peho-Like Syndrome |
|
Short nose, Retrognathia, Tapered finger |
OMIM:617507 |
Lambotte Syndrome |
|
Preaxial foot polydactyly, Retrognathia, Ventricular septal defect, Convex nasal ridge |
OMIM:245552 |
19Q13.11 Microdeletion Syndrome |
|
Recurrent respiratory infections, Finger syndactyly, Congenital hip dislocation, Ventricular sept... |
ORPHA:217346 |
Autosomal Recessive Robinow Syndrome |
|
Micrognathia, Abnormal tricuspid valve morphology, Clinodactyly of the 5th finger, Atrial septal ... |
ORPHA:1507 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Recurrent pneumonia, T lym... |
OMIM:300400 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Anemia |
OMIM:615085 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Recurrent sinopulmonary infections, Congenital hip dislocation, Ventri... |
ORPHA:2962 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hypertriglyceridemia |
OMIM:177000 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect, Talipes equinovarus |
OMIM:209770 |
Tarsal-Carpal Coalition Syndrome |
|
Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ... |
OMIM:186570 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Spontaneous, recurrent epistaxis, Mitral valve calcification, Pancytopenia, Poor w... |
ORPHA:2072 |
German Syndrome |
|
Depressed nasal bridge, Camptodactyly of finger, Micrognathia, Cryptorchidism, Wide nasal bridge,... |
ORPHA:2077 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Proteinuria, Vulval varicose vein, Hematuria, Varicose vein... |
ORPHA:71273 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Nonimmune hydrops fetalis |
ORPHA:477774 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Anteverted nares, Ulnar deviation of the wrist, Micrognathia, Cryptorchidism, Clinodactyly, Wide ... |
OMIM:618577 |
Rhiny |
|
Short nose, Anteverted nares |
OMIM:180360 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Pericardial effusion, Normochromic anemia, Bradycardia, Hypertrophi... |
OMIM:618775 |
Giant Cell Arteritis |
|
Pericarditis, Diabetes insipidus, Epistaxis, Abnormal pleura morphology, Recurrent pharyngitis, M... |
ORPHA:397 |
Autosomal Dominant Omodysplasia |
|
Short humerus, Rhizomelia, Depressed nasal bridge, Micrognathia, Elbow dislocation, Cryptorchidis... |
ORPHA:93328 |
Even-Plus Syndrome |
|
Epiphyseal dysplasia, Bifid nasal tip, Depressed nasal ridge, Atrial septal defect, Short nose, P... |
OMIM:616854 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... |
OMIM:256100 |
Mucopolysaccharidosis Type 7 |
|
Lymphedema, Splenomegaly, Hydrops fetalis, Mucopolysacchariduria, Arteriovenous malformation, Asc... |
ORPHA:584 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
9q subtelomeric deletion syndrome |
|
Short nose, Anteverted nares, Abnormal heart morphology |
DECIPHER:52 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... |
OMIM:614954 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Idiopathic Hypereosinophilic Syndrome |
|
Pulmonary embolism, Intracranial hemorrhage, Pallor, Neutrophilia, Raynaud phenomenon, Angioedema... |
ORPHA:3260 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Arachnodactyly, Overlapping toe, Micrognathia, Underdeveloped nasal alae, Short thumb, Metatarsus... |
ORPHA:436003 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Retinal detachment, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Micropenis, Patent for... |
OMIM:607143 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Depressed nasal ridge, Short nose, Anteverted nares |
ORPHA:1355 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Recurrent respiratory infections, Delayed epiphyseal ossification, Small hand, Cone-shaped epiphy... |
OMIM:618618 |
Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Depressed nasal bridge, Anteverted nares, Micromelia, Microgna... |
ORPHA:93329 |
Distal Triplication 15Q |
|
Arachnodactyly, Micrognathia, Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal heart m... |
ORPHA:314588 |
Granulomatosis With Polyangiitis |
|
Localized pulmonary hemorrhage, Retinal hemorrhage, Diffuse alveolar hemorrhage |
OMIM:608710 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Anteverted nares, Single transverse palmar crease, Micrognathia, Bulbous nose, Clinodactyly, Wide... |
OMIM:613604 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Abnormal bleeding, Death in infancy, Jaundice, Dehydration, Nephrocalcinosis, Renal tubular acido... |
OMIM:208085 |
Digeorge Syndrome |
|
Micrognathia, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypot... |
OMIM:188400 |
Pheochromocytoma |
|
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... |
OMIM:171300 |
Marburg Hemorrhagic Fever |
|
Dehydration, Leukopenia, Abnormal lymphocyte morphology, Internal hemorrhage, Abnormal bleeding, ... |
ORPHA:99826 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic ... |
OMIM:304790 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Persistence of primary teeth, Patent ductus arteriosus, Recurrent uppe... |
OMIM:619769 |
Wilson Disease |
|
Splenomegaly, Jaundice, Anemia, Joint swelling, Bruising susceptibility, Thrombocytopenia |
ORPHA:905 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Hyperextensibility of the finger joints, Poor wound healing, Mitral valve prolapse, Aortic root a... |
OMIM:130000 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Ventricular septal defect, Cryptorchidism, Heart murmur, Renal cyst, Horseshoe kidney, Abnormal v... |
ORPHA:166035 |
Oculoauriculofrontonasal Syndrome |
|
Wide nose, Ventricular septal defect, Micrognathia, Bifid nasal tip, Underdeveloped nasal alae |
ORPHA:398156 |
Diffuse Alveolar Hemorrhage |
|
Proteinuria, Thrombocytopenia, Leukocytosis, Hematuria, Pulmonary venous hypertension, Anemia |
ORPHA:90060 |
Harel-Yoon Syndrome |
|
Mandibular prognathia, Micrognathia, Hip dysplasia, Hypertrophic cardiomyopathy, Short nose |
OMIM:617183 |
Neutrophilic Dermatosis, Acute Febrile |
|
Dilated cardiomyopathy, Erythema, Pyoderma gangrenosum, Small vessel vasculitis, Anemia |
OMIM:608068 |
Joubert Syndrome 18 |
|
Trident pelvis, Bowing of the long bones, Ventricular septal defect, Postaxial polydactyly, Talip... |
OMIM:614815 |
Tarp Syndrome |
|
Anteverted nares, Single transverse palmar crease, Rocker bottom foot, Micrognathia, Postaxial po... |
OMIM:311900 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Death in infancy, Decreased fetal movement, Cerebral hemorrhage, Breech presentation, Subdural he... |
OMIM:620278 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Single transverse palmar crease, Underdeveloped nasal alae, Wide... |
OMIM:601224 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... |
ORPHA:331206 |
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Abnormality of the pulmonary artery |
ORPHA:1065 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Cryptorchidism, ... |
OMIM:613834 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Patent ductus arteriosus, Hip dislocation, Wide nasal bridge, Limb undergrowth, Neutropenia, Atri... |
OMIM:618005 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Depressed nasal bridge, Anteverted nares, Perimembranous ven... |
OMIM:606812 |
Tularemia |
|
Tachycardia, Leukocytosis, Anemia, Pleural effusion, Thrombocytopenia |
ORPHA:3392 |
Neurocutaneous Melanocytosis |
|
Intracranial hemorrhage, Death in infancy, Renal hypoplasia/aplasia |
ORPHA:2481 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Pyoderma gangrenosum, Thrombocytopenia |
OMIM:616576 |
Pearson Syndrome |
|
Reticulocytosis, Renal insufficiency, Pancytopenia, Proteinuria, Cardiac conduction abnormality, ... |
ORPHA:699 |
Keutel Syndrome |
|
Peripheral pulmonary artery stenosis, Sinusitis, Ventricular septal defect, Depressed nasal bridg... |
OMIM:245150 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Criss-Cross Heart |
|
Cyanosis, Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pul... |
ORPHA:1461 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hydroureter, Recurr... |
ORPHA:2970 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Bleeding Disorder In Hemophilia A Carriers |
|
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolonged bleed... |
ORPHA:177926 |
Hereditary Coproporphyria |
|
Dark urine, Tachycardia, Porphyrinuria, Increased urinary porphobilinogen, Nephropathy, Cutaneous... |
ORPHA:79273 |
Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Multiple muscular ventricular septal defects, Palmoplantar kera... |
OMIM:615508 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
Ring Chromosome 21 Syndrome |
|
Syndactyly, Small hand, Narrow palm, Abnormal heart morphology, Clinodactyly, Cutaneous photosens... |
ORPHA:1445 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Splenomegaly, Melena, Nephrocalci... |
OMIM:276700 |
C1Q Deficiency 2 |
|
Vasculitis in the skin, Anemia, Facial erythema |
OMIM:620321 |
Campomelia, Cumming Type |
|
Death in infancy, Multicystic kidney dysplasia, Lymphedema, Hydrops fetalis, Multiple renal cysts... |
ORPHA:1318 |
Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Thrombocytopenia, Nephrolithiasis, Proximal renal tubular acidosis, Renal tubular a... |
ORPHA:2785 |
Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent foramen ovale, P... |
OMIM:228520 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,... |
OMIM:616843 |
Smith-Magenis Syndrome |
|
Retinal detachment, Abnormality of the ureter, Abnormal localization of kidney, Renal hypoplasia/... |
ORPHA:819 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Abnormality of the hand, Micrognathia, Unilateral radial aplasia, Complete atrioventricular canal... |
ORPHA:476126 |
Lathosterolosis |
|
Hypoplasia of penis, Anisopoikilocytosis, Abnormal platelet morphology, Horseshoe kidney, Thrombo... |
ORPHA:46059 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Depressed nasal bridge, Micromelia, Postaxial polydactyly,... |
OMIM:617895 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Remnants of the hyaloid vascular system, Retinal nonattachment, Hyphema, Retinal fold |
OMIM:221900 |
Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Prominent nose, Mi... |
OMIM:619268 |
Menkes Disease |
|
Intracranial hemorrhage, Death in childhood |
OMIM:309400 |
Classical Ehlers-Danlos Syndrome |
|
Abnormality of the temporomandibular joint, Shoulder dislocation, Ecchymosis, Acrocyanosis, Dislo... |
ORPHA:287 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Short metacarpal, Bowing of the long bones, Depressed nasal bridge, Anteverted nares... |
ORPHA:50945 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Premature birth, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive... |
OMIM:105650 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries |
ORPHA:79085 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Total anomalous pulmonary venous return, Anemia |
OMIM:618313 |
Short Stature With Microcephaly And Distinctive Facies |
|
Death in infancy, Anisopoikilocytosis, Anemia |
OMIM:615789 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Ventricular septal defect, Multiple small medullary renal cysts, Ch... |
OMIM:118450 |
Pelger-Huet Anomaly |
|
Ventricular septal defect, Depressed nasal bridge, Abnormality of neutrophils, Thrombocytopenia, ... |
OMIM:169400 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Hallux valgus, Abnormal heart valve morphology, Sandal gap, Poor wound healing, Recurrent shoulde... |
ORPHA:230851 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Short nose, Recurrent pneumonia, Camptodactyly of finger, Micrognathia |
ORPHA:1495 |
Achondrogenesis, Type Ii |
|
Polyhydramnios, Stillbirth, Hydrops fetalis, Edema |
OMIM:200610 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Patent ductus arteriosus, Hydronephrosis, Increased mean platelet volume |
OMIM:300048 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypospadias, External genital hypoplasia, Ovotestis, Ambiguous genitalia, H... |
OMIM:610644 |
Kleefstra Syndrome |
|
Mandibular prognathia, Recurrent respiratory infections, Delayed eruption of teeth, Bicuspid aort... |
ORPHA:261494 |
Alkuraya-Kucinskas Syndrome |
|
Depressed nasal bridge, Anteverted nares, Overlapping toe, Micrognathia, Pericardial effusion, Cl... |
OMIM:617822 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Thrombocytopenia, Cryptorchidism, Premature graying of hair, Lymphopenia, An... |
OMIM:620365 |
Distal Xq28 Microduplication Syndrome |
|
Epistaxis, Broad nasal tip, Hypoplasia of the maxilla, Hypothyroidism, Patent ductus arteriosus, ... |
ORPHA:293939 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Nonimmune hydrops fetalis, Predominantly lower limb lymphedema, Palmar telangiectasia, Palpebral ... |
OMIM:607823 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Myocardial infarction, Pulmonary embolism, Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Er... |
ORPHA:447 |
Atypical Werner Syndrome |
|
Abnormal cerebral vascular morphology, Micrognathia, Fasting hyperinsulinemia, Premature graying ... |
ORPHA:79474 |
Aicardi-Goutieres Syndrome 4 |
|
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Death in childhood, Thrombocytopenia |
OMIM:610333 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Abnormal lung lobation, At... |
OMIM:265380 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defect |
OMIM:616898 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Ketonuria, Pulmonary edema, Cardiac conduction abnormality, Ede... |
ORPHA:466677 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abnormal erythrocyte morphology, Neurogenic bladder, Acanthocytosis |
ORPHA:96180 |
Sifrim-Hitz-Weiss Syndrome |
|
Ventricular septal defect, Hypogonadotropic hypogonadism, Tapered finger, Cryptorchidism, Patent ... |
OMIM:617159 |
Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia |
OMIM:620157 |
Robinow Syndrome |
|
Micrognathia, Atrial septal defect, Syndactyly, Depressed nasal bridge, Anteverted nares, Persist... |
ORPHA:97360 |
Fanconi Anemia, Complementation Group F |
|
Polyhydramnios, Placental abruption, Thrombocytopenia, Cryptorchidism, Patent ductus arteriosus, ... |
OMIM:603467 |
Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Premature birth, Edema, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypo... |
ORPHA:97362 |
Focal Dermal Hypoplasia |
|
Abnormal palmar dermatoglyphics, Finger syndactyly, Abnormal dental enamel morphology, Patent duc... |
ORPHA:2092 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Hallux valgus, Scapular winging, Toe syndactyly, Depressed nasal bridge, A... |
ORPHA:1327 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, A... |
ORPHA:555874 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Redundant neck skin, Single transverse palmar crease, Micrognathia, Hypopl... |
ORPHA:96334 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276556 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Finger joint hypermob... |
ORPHA:363705 |
Stickler Syndrome, Type I |
|
Retinal detachment, Mitral valve prolapse, Vitreoretinopathy, Membranous vitreous appearance, Ret... |
OMIM:108300 |
Castleman Disease |
|
Renal insufficiency, Thrombocytopenia, Jaundice, Hematuria, Decreased mean corpuscular volume, An... |
ORPHA:160 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Hypertriglyceridemia |
OMIM:608600 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Increased nuchal translucency, Fetal intraventricular hemorrhage, Premature birth, Oligohydramnios |
OMIM:618480 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
19P13.3 Microduplication Syndrome |
|
Ventricular septal defect, Unilateral cryptorchidism, Micrognathia, Precocious puberty, Underdeve... |
ORPHA:447980 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Short femur, Toe syndactyly, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
Baraitser-Winter Syndrome 1 |
|
Bicuspid aortic valve, Anteverted nares, Cryptorchidism, Patent ductus arteriosus, Duplication of... |
OMIM:243310 |
Trisomy 13 |
|
Cryptorchidism, Patent ductus arteriosus, Abnormality of the ureter, Hydrops fetalis, Multiple re... |
ORPHA:3378 |
Hemochromatosis, Type 2B |
|
Splenomegaly, Congestive heart failure, Anemia, Cardiomyopathy |
OMIM:613313 |
Perlman Syndrome |
|
Anteverted nares, Micrognathia, Cryptorchidism, Hyperinsulinemia, Wide nasal bridge, Abnormal pan... |
ORPHA:2849 |
Platelet Disorder, Undefined |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Micrognathia, Femoral bowing, Tibial bowing, Short tibia, Short ... |
OMIM:601559 |
X Small Rings |
|
Toe syndactyly, Bicuspid aortic valve, Anteverted nares, Ventricular septal defect, Tapered finge... |
ORPHA:96201 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Kanzaki Disease |
|
Telangiectasia of the oral mucosa, Depressed nasal bridge, Lip telangiectasia, Angiokeratoma corp... |
OMIM:609242 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
Hypomandibular Faciocranial Dysostosis |
|
Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Choanal stenosis, Atrial septa... |
OMIM:241310 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Thrombocytopenia, Decreased proport... |
ORPHA:79124 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Mandibular prognathia, Microretrognathia, Dilation of Virchow-Robin spaces, Ventricular septal de... |
OMIM:300998 |
Fraser Syndrome 3 |
|
Sonographic non-visualized fetal bladder, Hypoplasia of the bladder, Hypoplasia of penis, Nonimmu... |
OMIM:617667 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Telangiectasia of the skin, Ventricular septal defect, Micrognathia, Long... |
ORPHA:52 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Splenomegaly, Lipemia retinalis, Nephrolithiasis, Hypertension, Focal ... |
OMIM:232220 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Absent gallbladder, Depressed nasal bridge, Postaxial polydactyly, Micrognathia, Com... |
OMIM:617925 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Bilateral single transverse palmar cr... |
OMIM:244300 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased serum insulin-like growth factor 1, Rhizomelia, Allergic rhinitis, Ulnar deviation of t... |
OMIM:618162 |
Fanconi Anemia, Complementation Group I |
|
Abnormal renal morphology, Renal hypoplasia, Horseshoe kidney, Pallor, Neutropenia, Vesicouretera... |
OMIM:609053 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Micrognathia, Metaphyseal widening, Depressed nasal bridge, Anteverted nares, Repeated pneumothor... |
ORPHA:536467 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Micrognathia, Clinodactyly of the 5th finger, Broad columella, Finger synd... |
ORPHA:2710 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Abnormal coronary artery cours... |
ORPHA:3427 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dicarboxylic aciduria, Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dil... |
ORPHA:99901 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Developmental And Epileptic Encephalopathy 66 |
|
Ventricular septal defect, Dextrocardia, Cryptorchidism, Wide nasal bridge, Clinodactyly of the 5... |
OMIM:618067 |
Cystic Hamartoma Of Lung And Kidney |
|
Hypertension, Multicystic kidney dysplasia |
ORPHA:2111 |
Omenn Syndrome |
|
Eosinophilia, Edema, Splenomegaly, Leukocytosis, Dry skin, Nephrotic syndrome, Desquamation of sk... |
ORPHA:39041 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Anuria, Edema, Myocarditis, Leukocytosis, Thrombocytopenia, Oliguria, Hypertens... |
ORPHA:544482 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Polyhydramnios, Patent ductus arteriosus, Hypercalciuria, Nephrocalcinosis, Elliptocytosis, Renal... |
OMIM:300990 |
Lambert Syndrome |
|
Malar flattening, Jaundice, Ventricular septal defect |
ORPHA:1296 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Ventricular septal defect, Micr... |
OMIM:618454 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Pericarditis, Cutis marmorata, ... |
ORPHA:727 |
Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Depressed nasal bridge, Clinodactyly, Wide nasal bridge, Retrognathia, Str... |
ORPHA:557003 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
Osteogenesis Imperfecta, Type Ii |
|
Congestive heart failure, Pulmonary insufficiency, Premature birth, Nonimmune hydrops fetalis |
OMIM:166210 |
Coach Syndrome 1 |
|
Optic disc pallor, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Splenomegaly, Mu... |
OMIM:216360 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Polyhydramnios, Cryptorchidism, Increased nuchal translucency, Pate... |
ORPHA:261344 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Arthrogryposis multi... |
OMIM:236500 |
Hepatoerythropoietic Porphyria |
|
Abnormal bleeding, Hemolytic anemia, Nonimmune hydrops fetalis, Edema, Splenomegaly, Red urine, R... |
ORPHA:95159 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Increased C-peptide level |
OMIM:615238 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Overgrowth of external genitalia, Hypertriglyceridemia, Precocious puberty in femal... |
ORPHA:528 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276575 |
Hermansky-Pudlak Syndrome 11 |
|
Epistaxis, Reduced platelet dense granules, Menorrhagia, Gingival bleeding, Impaired collagen-ind... |
OMIM:619172 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Retinal detachment |
ORPHA:1856 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Edema of the dorsum of feet, Increased pulmonary vascular resistance, Co... |
ORPHA:275766 |
Temple Syndrome |
|
Hypertriglyceridemia, Precocious puberty, Cryptorchidism, Hypercholesterolemia, Decreased testicu... |
OMIM:616222 |
Moebius Syndrome |
|
Syndactyly, Abnormal nasopharynx morphology, Brachydactyly, Depressed nasal bridge, Hypogonadotro... |
OMIM:157900 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Prominent nasal bridge, Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Crypt... |
ORPHA:85279 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Atrial septal defect, Malar f... |
ORPHA:79113 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Kaufman Oculocerebrofacial Syndrome |
|
Congenital hip dislocation, Ventricular septal defect, Depressed nasal bridge, Anteverted nares, ... |
OMIM:244450 |
Methylmalonic Aciduria, Cblb Type |
|
Pancytopenia, Ketonuria, Thrombocytopenia, Methylmalonic aciduria, Dehydration, Neutropenia, Anemia |
OMIM:251110 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Prominent nose,... |
OMIM:201170 |
Fanconi Anemia, Complementation Group D2 |
|
Duplicated collecting system, Pancytopenia, Renal agenesis, Anemic pallor, Ectopic kidney, Thromb... |
OMIM:227646 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb... |
OMIM:226990 |
Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Short nose, Hip dysplasia |
OMIM:618379 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276580 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Ketonuria, Anemia, Aminoaciduria, Neutropenia, Thrombocytopenia |
OMIM:614520 |
Glycogen Storage Disease Ixc |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Bile duct proliferation |
OMIM:613027 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Eczema, Subarachnoid hemorrhage, Atopic dermatitis, Disseminated molluscum c... |
OMIM:243700 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ... |
OMIM:619534 |
Arteriosclerosis, Severe Juvenile |
|
Myocardial infarction, Chronic kidney disease, Central retinal vessel vascular tortuosity, Calcif... |
OMIM:208060 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Bicuspid aortic valve, Single transverse palmar crease, Limited elbow movement, Micrognathia, Pro... |
OMIM:610759 |
Coffin-Siris Syndrome 4 |
|
Narrow nasal bridge, Wide nose, Depressed nasal bridge, Anteverted nares, Ventricular septal defe... |
OMIM:614609 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Coarctation of aorta, H... |
OMIM:617729 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Coronary artery calcification, Congestive heart failure, Car... |
OMIM:208000 |
Muckle-Wells Syndrome |
|
Splenomegaly, Vasculitis, Urticaria, Nephrotic syndrome, Renal amyloidosis, Nephropathy, Anemia |
ORPHA:575 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Wide nose, Coxa valga, Elbow dislocation, Metatarsus adductus, Avascular ... |
ORPHA:2557 |
Congenital Disorder Of Glycosylation, Type Il |
|
Depressed nasal bridge, Pericardial effusion, Hip dislocation, Hepatosplenomegaly, Abnormal cardi... |
OMIM:608776 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Decrea... |
OMIM:615947 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Hypospadias, Renal cyst |
OMIM:605231 |
Waardenburg Syndrome, Type 3 |
|
Mandibular prognathia, Scapular winging, Prominent nasal bridge, Camptodactyly of finger, Wide na... |
OMIM:148820 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... |
ORPHA:1652 |
Toriello-Carey Syndrome |
|
Micrognathia, Cryptorchidism, Patent ductus arteriosus, Clinodactyly, Coarctation of aorta, Cardi... |
ORPHA:3338 |
Noonan Syndrome 13 |
|
Anteverted nares, Overlapping toe, Micrognathia, Tapered finger, Cryptorchidism, Metatarsus adduc... |
OMIM:619087 |
Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Polyhydramnios, Asplenia, Cryptorchidism, Patent ductus art... |
ORPHA:99776 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs invers... |
OMIM:613095 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Hypoplastic left heart, Aplasi... |
OMIM:301043 |
Opsismodysplasia |
|
Recurrent respiratory infections, Depressed nasal bridge, Tapered finger, Splenomegaly, Squared i... |
ORPHA:2746 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Proteinuria, Myocardial infarction, Di... |
ORPHA:90068 |
Gaucher Disease, Type Iii |
|
Vascular calcification, Splenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:231000 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Small hypothenar eminence, Ventricular septal defect, Choanal atresia, Secundu... |
OMIM:612562 |
Cutis Laxa, Autosomal Dominant 1 |
|
Ventricular septal defect, Redundant skin, Poor wound healing, Progeroid facial appearance, Prema... |
OMIM:123700 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts |
OMIM:618462 |
8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Congenital hip dislocation, Single transverse palmar crease, Microme... |
ORPHA:508488 |
Retinoblastoma |
|
Abnormality of retinal pigmentation, Rhabdomyosarcoma, Subretinal pigment epithelium hemorrhage, ... |
ORPHA:790 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Clark-Baraitser Syndrome |
|
Depressed nasal bridge, Anteverted nares, Sandal gap, Clinodactyly, Short nose, Low hanging colum... |
OMIM:617752 |
17P13.3 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Wide nose, Congenital hip dislocation, Short nose |
ORPHA:217385 |
Meester-Loeys Syndrome |
|
Arachnodactyly, Poor wound healing, Mitral valve prolapse, Ascending tubular aorta aneurysm, Aort... |
OMIM:300989 |
Acute Radiation Syndrome |
|
Abnormal bleeding, Skin ulcer, Telangiectasia, Granulocytopenia, Hypotension, Scaling skin, Lymph... |
ORPHA:454831 |
Gaucher Disease |
|
Abnormal bleeding, Death in infancy, Pancytopenia, Proteinuria, Thrombocytopenia, Splenomegaly, C... |
ORPHA:355 |
Loeys-Dietz Syndrome 5 |
|
Reduced subcutaneous adipose tissue, Scapular winging, Ventricular septal defect, Prominent nasal... |
OMIM:615582 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:618620 |
Galactosialidosis |
|
Conjunctival telangiectasia, Cherry red spot of the macula, Nonimmune hydrops fetalis, Hepatosple... |
OMIM:256540 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Short nose, Delayed puberty, Anemia, Micrognathia |
ORPHA:2598 |
Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... |
OMIM:147750 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Hyperextensibility of the finger joints, Wide nose, Toe syndactyly, Ventricular septal defect, Pr... |
ORPHA:505237 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Pallor |
ORPHA:276608 |
Phacoanaphylactic Uveitis |
|
Hyphema, Abnormal vitreous humor morphology, Vitritis, Retinal arteritis, Macular edema, Vitreore... |
ORPHA:209959 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypopituitarism, Hypertriglyceridemia, Hypoalbuminemia, Hepatosplenomegaly |
OMIM:619013 |
Pagod Syndrome |
|
Situs inversus totalis, Abnormality of the spleen, Pulmonary artery hypoplasia, Abnormal aortic m... |
ORPHA:991 |
Osteogenesis Imperfecta, Type I |
|
Femoral bowing, Mitral valve prolapse, Hip dysplasia, Finger joint hypermobility, Bruising suscep... |
OMIM:166200 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Microretrognathia, Recurrent respiratory infections, Short nose, Postaxial hand polydactyly |
ORPHA:1389 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation |
ORPHA:171844 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Ventricular septal defect, Anteverted nares, Bulbous nose, Patent ductus arteriosus, Wide nasal b... |
OMIM:220500 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Recurrent respiratory infections, Anteverted nares, Overlapping toe, Wide na... |
OMIM:619383 |
Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Micrognathia, Long fingers, Ulnar deviation of finger, Short n... |
ORPHA:1895 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Short palm, Synostosis of carpal bones, Depressed nasal bridg... |
ORPHA:90652 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Clubbing, M... |
OMIM:175050 |
Ververi-Brady Syndrome |
|
Wide nose, Broad nasal tip, Prominent nose, Bulbous nose, Transposition of the great arteries, Cl... |
OMIM:617982 |
6P22 Microdeletion Syndrome |
|
Clinodactyly, Finger syndactyly, Patent ductus arteriosus, Redundant skin |
ORPHA:251046 |
Lcat Deficiency |
|
Hemolytic anemia, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Atheroscleros... |
ORPHA:650 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... |
OMIM:600376 |
Kniest Dysplasia |
|
Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Vitreoretino... |
ORPHA:485 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Retinal detachment, Distal arthrogryposis, Optic atrophy |
OMIM:619833 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Scapular winging, A... |
OMIM:616914 |
Stt3B-Cdg |
|
Cryptorchidism, Micropenis, Thrombocytopenia |
ORPHA:370924 |
Agel Amyloidosis |
|
Proteinuria, Edema, Xerostomia, Stage 5 chronic kidney disease, Dry skin, Cutis laxa, Cardiomyopa... |
ORPHA:85448 |
Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Microretrognathia, Arachnodactyly, Cryptorchidism, Pneumothorax, Mitral valve prolapse, Short col... |
OMIM:601776 |
Idiopathic Uveal Effusion Syndrome |
|
Exudative retinal detachment, Retinal fold, Subretinal fluid |
ORPHA:209956 |
Joubert Syndrome 7 |
|
Retinal dystrophy, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Finger syndactyly, Short nose, Micrognathia |
ORPHA:1514 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Hypoplasia of the maxil... |
OMIM:305400 |
Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Imagawa-Matsumoto Syndrome |
|
Mandibular prognathia, Wide nasal ridge, Cryptorchidism, Large hands, Camptodactyly, Clinodactyly |
OMIM:618786 |
Adenylosuccinate Lyase Deficiency |
|
Short nose, Anteverted nares |
ORPHA:46 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Shortening of all middle phalanges of the fingers, Syndactyly, Finger synd... |
OMIM:101600 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Recurrent pharyngitis, Myocarditis, Vasculitis, Ja... |
ORPHA:2331 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Abnormal dense granu... |
OMIM:214500 |
Chylomicron Retention Disease |
|
Acanthocytosis |
ORPHA:71 |
Spontaneous Periodic Hypothermia |
|
Arrhythmia, Pallor |
ORPHA:29822 |
15Q24 Microdeletion Syndrome |
|
Depressed nasal bridge, Prominent nasal bridge, Decreased response to growth hormone stimulation ... |
ORPHA:94065 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... |
ORPHA:94088 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Death in infancy, Anemia, Aminoaciduria, Death in childhood, Thrombocytopenia |
OMIM:614946 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Decreased ... |
OMIM:612394 |
1P31P32 Microdeletion Syndrome |
|
Intraventricular hemorrhage, Abnormality of the urinary system, Moyamoya phenomenon |
ORPHA:401986 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
Noonan Syndrome 4 |
|
Abnormal bleeding, Ureteral duplication, Polyhydramnios, Cryptorchidism, Pulmonic stenosis, Hyper... |
OMIM:610733 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pleural effusion, Pulmonic s... |
OMIM:615355 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Vasculitis, Lymphocytosis, Hemophagocytosis, Neutrop... |
OMIM:308240 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Ventricular septal defect, Prominent nasal bridge, Overlapping toe, Tapered finger, Down-sloping ... |
OMIM:617452 |
Distal Deletion 10Q |
|
Prominent fingertip pads, Scapular winging, Sandal gap, Prominent nasal bridge, Single transverse... |
ORPHA:96148 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor, Flushing |
ORPHA:98820 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Hepatomegal... |
ORPHA:394 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
Prominent nasal bridge, Single transverse palmar crease, Micrognathia, Bilateral cryptorchidism, ... |
OMIM:613544 |
Meckel Syndrome, Type 8 |
|
Pericardial effusion, Depressed nasal ridge, Polydactyly, Talipes equinovarus, Short nose |
OMIM:613885 |
Intellectual Disability-Strabismus Syndrome |
|
Decreased serum insulin-like growth factor 1, Depressed nasal bridge, Decreased response to growt... |
ORPHA:363528 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Anteverted nares, Cryptorchidism, Conotruncal defect, Coarctation of aorta, Abnormal cardiac sept... |
ORPHA:96147 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia, Lymphedema |
OMIM:223350 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Recurrent respiratory infections, Bowing of the long bones, Toe syndactyly, Ventricular septal de... |
ORPHA:261330 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Micrognathia, Abnormal nasal... |
ORPHA:404440 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Decreased testicular size, Wide nose, Ventricular septal defect, Prominent nasal bridge, Broad ha... |
ORPHA:251028 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Redundant skin, Micrognathia, Equinus calcaneus, Prominent veins on trunk, Shoulder dislocation, ... |
ORPHA:536532 |
Chromosome 16P13.3 Duplication Syndrome |
|
Proximal placement of thumb, Micrognathia, Atrial septal defect, Depressed nasal bridge, Antevert... |
OMIM:613458 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia, Triphalange... |
OMIM:615550 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma |
OMIM:212550 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Abnormal tibia mo... |
ORPHA:1335 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Mandibular prognathia, Micrognathia, Cryptorchidism, Hip dysplasia, Delayed puberty, Hypertrophic... |
ORPHA:496790 |
Tarp Syndrome |
|
Finger syndactyly, Cyanosis, Anteverted nares, Extramedullary hematopoiesis, Single transverse pa... |
ORPHA:2886 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor |
ORPHA:324575 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Necrolytic migratory erythema, Acanthocytosis, Intermittent jaundice... |
ORPHA:97280 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Secundum atrial septal defect, Hypoplasia of the thymus, Genu varum, Long toe, Depr... |
OMIM:264090 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, B... |
ORPHA:1465 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Finger syndactyly, Overlapping fingers, Ventricular septal defect, Antever... |
ORPHA:464738 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Recurrent pneumonia, Abnormal heart morph... |
ORPHA:314655 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Aplastic anemia, Hypergonadotropic hypogonadism, Absent thumb, Patent ... |
OMIM:300514 |
Glutamine Deficiency, Congenital |
|
Recurrent respiratory infections, Depressed nasal bridge, Anteverted nares, Micromelia, Erythema,... |
OMIM:610015 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Situs inversus tota... |
OMIM:267010 |
Jansen-De Vries Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Anteverted nares, Small hand, Short foot, Brach... |
OMIM:617450 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormality of the temporomandibular joint, Single transverse palmar crease, Micrognathia, Metaph... |
ORPHA:536471 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Abnormality of the urethra, Flexion contracture, Aplasia of the bladder, Abnorma... |
ORPHA:158684 |
Adenohypophysitis |
|
Orthostatic hypotension, Hyposthenuria, Pallor, Normochromic anemia |
ORPHA:95512 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... |
ORPHA:729 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Broad toe, Ventricular septal defect, Depressed nasal bridge, Rocker bottom foot, Patent ductus a... |
OMIM:612582 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Decreased fetal movement, Subdural hemorrhage, Polyhydramnios |
OMIM:618291 |
Muenke Syndrome |
|
Broad hallux, Capitate-hamate fusion, Dental malocclusion, Cone-shaped epiphyses of the phalanges... |
OMIM:602849 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... |
OMIM:610168 |
Gm1 Gangliosidosis |
|
Premature birth, Congestive heart failure, Splenomegaly, Patent ductus arteriosus, Hydrops fetali... |
ORPHA:354 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... |
OMIM:238600 |
Intellectual Developmental Disorder, X-Linked 106 |
|
Bicuspid aortic valve, Cryptorchidism, Clinodactyly of the 5th finger, Clinodactyly, Decreased te... |
OMIM:300997 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Wide nose, Maturity-onset diabetes of the young, Micrognathia, Precocious puberty, Small hand, Sh... |
ORPHA:254531 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Aplasia/Hypoplasia of the radius, Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Depressed nasal bridge, Anteverted nares, Pneumonia, Recurrent upper respiratory tract infections... |
OMIM:614069 |
Duodenal Atresia |
|
Annular pancreas, Abnormality of the pulmonary artery |
ORPHA:1203 |
Mgat2-Cdg |
|
Abnormal bleeding, Impaired lymphocyte transformation with phytohemagglutinin, Patent ductus arte... |
ORPHA:79329 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Micrognathia, Asplenia, Cryptorchidism, Pulmonic stenosis, Camptodacty... |
OMIM:619123 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Retinal detachment, Abnormal cerebral vascular morphology, Pulmonary... |
ORPHA:3205 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Micromelia, Proximal placement of thumb, Cryptorchidism, Abnorma... |
ORPHA:3121 |
Nance-Horan Syndrome |
|
Retinal detachment |
ORPHA:627 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Wide nose, Diabetes mellitus, Anteverted nares, Dorsocervical fat pad, Down-sloping shoulders, Mi... |
ORPHA:391408 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Edema, Pulmonary embolism, Iron deficiency anemia, Budd-Chiari syndrome, Thrombocytosis, Intestin... |
OMIM:226300 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Maternal diabetes, Micrognathia, Limited elbow movement, Cryptorchidism,... |
OMIM:134780 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Conical incisor, Cutaneous finger syndactyly, Hypoplastic iliac wing, Short palm, Atrial septal d... |
OMIM:235510 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism, Ventricular septal defect |
OMIM:616816 |
Rheumatic Fever |
|
Pericarditis, Epistaxis, Myocarditis, Erythema, Nephrotic syndrome, Pallor, Arrhythmia |
ORPHA:3099 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Micrognathia, Cubitu... |
OMIM:605275 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Redundant neck skin, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent duct... |
ORPHA:2519 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Polycysti... |
ORPHA:435660 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia |
OMIM:613877 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... |
OMIM:602088 |
Prader-Willi Syndrome Due To Translocation |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Prominent n... |
ORPHA:177907 |
Methylmalonic Aciduria, Cbla Type |
|
Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Thrombocytopenia, Methylma... |
OMIM:251100 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Death in infancy, Cardiomegaly, Death in childhood, Pulmonary arterial hypertension |
OMIM:619064 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A... |
ORPHA:1677 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Pulmonary embolism, Chronic kidney disease, Stage 5 chronic ki... |
ORPHA:567546 |
Primary Hyperoxaluria Type 1 |
|
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... |
ORPHA:93598 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Pyoderma gangrenosum, B lymp... |
OMIM:150550 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Ventricular septal defect, Short hallux, Proxi... |
ORPHA:2438 |
Femoral-Facial Syndrome |
|
Short femur, Maternal diabetes, Micrognathia, Cryptorchidism, Coxa vara, Abnormal fibula morpholo... |
ORPHA:1988 |
Chops Syndrome |
|
Anteverted nares, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Splenomega... |
OMIM:616368 |
Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Multicystic kidney dysplasia, Renal fibrosis, Rod-cone dystro... |
OMIM:618161 |
Thrombocytopenia 6 |
|
Abnormal bleeding, Spontaneous, recurrent epistaxis, Thrombocytopenia |
OMIM:616937 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Hypogonadotropic hypogonadism, Pulmonary arter... |
OMIM:301030 |
Recon Progeroid Syndrome |
|
Progeroid facial appearance, Livedo reticularis, Anemia, Cutaneous photosensitivity, Scaling skin... |
OMIM:620370 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Myop... |
OMIM:212140 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... |
ORPHA:3258 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Broad femoral neck, Thenar muscle atrophy, Flat capital femoral epiphysis, Tapered finger, Flatte... |
ORPHA:157965 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Prominent superficial veins, Decreased adipose tissue around neck, Progeroid facial appearance, N... |
OMIM:608612 |
Galloway-Mowat Syndrome 9 |
|
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:619603 |
Cardiac Valvular Dysplasia 2 |
|
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Central cyanosis, Pulmonic stenosis, Sub... |
OMIM:620067 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Dextrocardia, Proximal placement of thumb, Absent radius, Hand polydactyly, Pulmon... |
OMIM:314390 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Vascular dilatation, Hepatomegaly, Polycystic kidney dysplasia |
OMIM:614859 |
Immunodeficiency 97 With Autoinflammation |
|
Recurrent urinary tract infections, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25... |
OMIM:619802 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Single transverse palmar crease, Cryptorchidism... |
ORPHA:329224 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect, Anteverted nares, Proximal placement of thumb, Missing ribs, Camptodac... |
ORPHA:1488 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Syndactyly, Depressed nasal bridge, Broad nasal tip, Clinodactyly of t... |
OMIM:619736 |
Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Intestinal bleeding, Thrombocytopenia |
OMIM:112200 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Anosmia, Epiphyseal stippling, Hypogonadism, Short nose, Short nasal sept... |
OMIM:302950 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Wide nose, Micrognathia, Malar flattening, Clinodactyly, Thick nasal alae |
ORPHA:357175 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Ventricular septal defect, Prominent nasal bridge, Broad nasal tip, Cryptorchi... |
ORPHA:457193 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Chromosome 18Q Deletion Syndrome |
|
Mandibular prognathia, Decreased response to growth hormone stimulation test, Proximal placement ... |
OMIM:601808 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of... |
ORPHA:3047 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Clinodactyly |
ORPHA:500166 |
Aortic Valve Disease 2 |
|
Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen... |
OMIM:614823 |
Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Ventricular septal defect, Prominent nasal bridge, Cryptorchidism, Patent duct... |
ORPHA:1519 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Nonimmune hydrops fetalis, Hydronephrosis |
OMIM:618265 |
Weaver Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus d... |
OMIM:277590 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect, Splenomegaly, Postaxial hand polydactyly, Cone-shaped epiphyses of the... |
OMIM:615630 |
Cyclic Vomiting Syndrome |
|
Cardiomyopathy, Pallor |
OMIM:500007 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Thrombocytopenia... |
ORPHA:508542 |
Feingold Syndrome |
|
Hallux valgus, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Micrognathia, Abnormalit... |
ORPHA:1305 |
Megalocornea |
|
Retinal detachment |
OMIM:309300 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Patent ductus arterio... |
OMIM:153400 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Retinal detachment |
OMIM:609616 |
Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... |
OMIM:301050 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Gm1 Gangliosidosis Type 1 |
|
Cherry red spot of the macula, Hydrops fetalis, Hepatosplenomegaly, Cardiomyopathy, Urinary glyco... |
ORPHA:79255 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Polycystic ovaries |
OMIM:604367 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Male hypogonadism, Hypertriglyceridemia, Cryptorchidism |
OMIM:615381 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of th... |
ORPHA:163966 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Hypoplastic nasal bridge, Anteverted nares, Ventricular septal ... |
OMIM:609942 |
Panhypophysitis |
|
Orthostatic hypotension, Hyposthenuria, Pallor, Normochromic anemia |
ORPHA:95513 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Premature graying of hair, Excessive wrinkled skin, Anemia, Thromb... |
ORPHA:3322 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cryptorchidism, Tetralogy of Fallot, Genu valgum |
ORPHA:1381 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm |
OMIM:615113 |
Familial Acute Necrotizing Encephalopathy |
|
Choroid hemorrhage |
ORPHA:88619 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Hsd10 Disease, Infantile Type |
|
Cardiomegaly, Optic atrophy, Abnormality of the lower urinary tract, Abnormal concentration of ac... |
ORPHA:391428 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Miller-Dieker Syndrome |
|
Clinodactyly of the 5th finger, Short nose, Anteverted nares |
ORPHA:531 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Depressed nasal bridge, Patent ductus arteriosus, Clinodactyly, Wide nasal bridge, Hepatosplenome... |
ORPHA:397709 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Vertebrobasilar dolichoectasia, Retinal detachment, Nephrolithiasis, Abnormality of the kidney |
ORPHA:521445 |
Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Micrognathia, Cryptorchid... |
OMIM:600325 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping, Depressed nasal ridge, Metaphyseal cupping of ... |
OMIM:300863 |
Joubert Syndrome 14 |
|
Ventricular septal defect, Morning glory anomaly, Optic atrophy, Renal cyst, Intracranial hemorrh... |
OMIM:614424 |
Aspergillosis |
|
Intracranial hemorrhage, Pleural effusion, Stroke, Abnormality of the kidney |
ORPHA:1163 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Sudden cardiac death, Myocardial infar... |
ORPHA:36426 |
Pediatric-Onset Graves Disease |
|
Atrial fibrillation, Premature birth, Congestive heart failure, Splenomegaly, Jaundice, Neutropen... |
ORPHA:525731 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Supernumerary nipple, Hypoplasia of the maxilla, Patent ductus arterio... |
OMIM:106260 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Jaundice, Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly |
ORPHA:168577 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
Immunodeficiency 22 |
|
Pericarditis, Thrombocytopenia, Capillary leak, Decreased proportion of CD4-positive helper T cel... |
OMIM:615758 |
Cholesteryl Ester Storage Disease |
|
Death in infancy, Portal hypertension, Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, S... |
OMIM:278000 |
Developmental And Epileptic Encephalopathy 75 |
|
Anteverted nares, Wide nasal bridge, Cardiomyopathy, Prolonged neonatal jaundice, Short nose |
OMIM:618437 |
Hemolytic Anemia, Congenital, X-Linked |
|
Dark urine, Hemolytic anemia, Jaundice |
OMIM:301015 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries |
ORPHA:435651 |
Coffin-Siris Syndrome 7 |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Bicuspid aortic valve, Ventricular septal de... |
OMIM:618027 |
Acromesomelic Dysplasia 1 |
|
Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met... |
OMIM:602875 |
Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Elevated circulating thyroid-... |
OMIM:601812 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Cryptorchidism, Ventricular septal defect, Hypoplastic left heart, Micromelia |
ORPHA:2772 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Wide nose, Anteverted nares, Cutis marmorata, Micrognathia, Telan... |
ORPHA:109 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Short humerus, Depressed nasal bridge, Anteverted nares, Rhizomelia, Micrognathia, Wide nasal bri... |
OMIM:222765 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Arachnodactyly, Arterial tortuosity, Micrognathia, Descending thoracic aor... |
OMIM:609192 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Neonatal insulin-dependent diabetes mell... |
ORPHA:2255 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
Transketolase Deficiency |
|
Hepatomegaly, Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary ar... |
ORPHA:488618 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
Jacobsen Syndrome |
|
Long hallux, Broad columella, Broad hallux phalanx, Finger syndactyly, Anteverted nares, Cryptorc... |
ORPHA:2308 |
Parkes Weber Syndrome |
|
Abnormal bleeding, Prominent superficial blood vessels, Peripheral arteriovenous fistula, Subarac... |
ORPHA:90307 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Depressed nasal bridge, Cryptorchidism, Polydactyly, Short nose, Hypoplastic ischia |
OMIM:616910 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect, Renal cyst, Horseshoe kidney, Hypoautofluorescent retinal lesion, Rod-... |
OMIM:250410 |
Macs Syndrome |
|
Prolonged bleeding time, Brachydactyly, Dilation of Virchow-Robin spaces, Hypergonadotropic hypog... |
OMIM:613075 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Thrombocytopenia |
OMIM:231095 |
Hypomandibular Faciocranial Dysostosis |
|
Recurrent respiratory infections, Anteverted nares, Patent ductus arteriosus, Choanal stenosis, A... |
ORPHA:1790 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Increased serum... |
OMIM:618901 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... |
OMIM:617168 |
Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Cubitus valgus, Clinodactyly, Limited elbow extension, 2-3 toe syndactyly |
OMIM:610313 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... |
ORPHA:137675 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Hypertension, Glomerular sclerosis, Abnormal renal physiology |
OMIM:223900 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Periorbital edema, Leukocytosis, Oliguria, Lymphocytosis, Hypochromic a... |
ORPHA:514 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Long nose, T lymphocytopenia, Narrow greater sciatic notch,... |
ORPHA:508533 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:618398 |
Proteus-Like Syndrome |
|
Splenomegaly, Retinal detachment, Venous insufficiency, Polycystic ovaries |
ORPHA:2969 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Hepatomegaly, Abnorm... |
ORPHA:247598 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Sudden cardiac death, Abnormality of t... |
ORPHA:537 |
Hennekam Syndrome |
|
Lymphopenia, Lymphedema, Pericardial effusion, Ectopic kidney, Splenomegaly, Pulmonary lymphangie... |
ORPHA:2136 |
Intermediate Osteopetrosis |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
Brittle Cornea Syndrome |
|
Retinal detachment, Mitral valve prolapse, Pulmonic stenosis, Camptodactyly, Bruising susceptibility |
ORPHA:90354 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Hypoplasia of the ulna, Wide nose, Micrognathia, Malar flattening, Clinodactyly, Thick nasal alae |
OMIM:615162 |
Gitelman Syndrome |
|
Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Renal Fanconi sy... |
ORPHA:358 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Depressed nasal bridge, Tapered finger, Wide nasal bridge, Flattened epiphy... |
OMIM:607131 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Bicuspid aortic valve, Ventricular septal defect, Anteverted nares, Prominent nasal bridge, Paten... |
OMIM:617751 |
Goodpasture Syndrome |
|
Renal insufficiency, Cyanosis, Proteinuria, Glomerulonephritis, Cylindruria, Erythrocyte cylindru... |
OMIM:233450 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Depressed nasal bridge, Anteverted nares, Single transverse palmar crease, 2-3 toe syndactyly, Cl... |
OMIM:613443 |
Immunodeficiency 9 |
|
Ectodermal dysplasia, Hypoplasia of the thymus, Amelogenesis imperfecta |
OMIM:612782 |
Vogt-Koyanagi-Harada Disease |
|
Retinal detachment |
ORPHA:3437 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Cutis marmorata, Coxa valga, Long fingers, ... |
OMIM:614753 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Hypoplasia of the... |
ORPHA:66628 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Edema, Leukocytosis, Hematochezia, Ascites, Anemia |
ORPHA:2070 |
Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,... |
ORPHA:93258 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Death in infancy, Remnants of the hyaloid vascular system, Optic nerve hypopl... |
OMIM:614643 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Chime Syndrome |
|
Ventricular septal defect, Aplastic clavicle, Supernumerary tooth, Erythema, Depressed nasal ridg... |
ORPHA:3474 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morpho... |
ORPHA:1896 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Palpable purpura, Membranoproliferative glomerulonephritis, Proteinuria, Glo... |
ORPHA:48435 |
Ohdo Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal bridge, Hypopl... |
OMIM:249620 |
Peters Plus Syndrome |
|
Micromelia, Micrognathia, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Clinodact... |
ORPHA:709 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Renal cyst, Atrial septal defect, Hepatomegaly, Death in infancy, Tricuspid regurgitation, Hyposp... |
OMIM:614866 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Brachydactyly, Hypogonadotropic hypogonadism, Anosmia, Genu valgum, Hypoplasia of the zygomatic b... |
ORPHA:1295 |
Dentinogenesis Imperfecta |
|
Prolonged bleeding time, Generalized hypoplasia of dental enamel, Odontodysplasia, Pulp obliterat... |
ORPHA:49042 |
Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma... |
ORPHA:100026 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Bruising susceptibility, Arterial rupture |
ORPHA:300179 |
Holocarboxylase Synthetase Deficiency |
|
Organic aciduria, Desquamation of skin soon after birth, Thrombocytopenia |
ORPHA:79242 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Megaloblastic anemia, Cystathioninuria, Thrombocytopenia, Patent ductus arteriosus,... |
OMIM:277380 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Cryptorchidism, Patent ductus arteriosus, Ventricular septal defect, Micrognathia |
ORPHA:452 |
Sheehan Syndrome |
|
Orthostatic hypotension, Normochromic anemia, Hyposthenuria, Palpitations, Bradycardia, Pallor, D... |
ORPHA:91355 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Ventricular septal defect, Depressed nasal bridge, Hypoplasia of the maxilla, B... |
OMIM:608328 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Redundant neck skin, Ventricular septal defect, Thyroid lymphangiectasia, Micrognathia, Pancreati... |
OMIM:235255 |
Emanuel Syndrome |
|
Broad jaw, Recurrent respiratory infections, Congenital hip dislocation, Truncus arteriosus, Vent... |
OMIM:609029 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Syndactyly, Depressed nasal bridge, Anteverted nares, Intraventricular hemorrhage, Wide nasal bri... |
OMIM:616430 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia |
ORPHA:363400 |
Cysticercosis |
|
Calcification of muscles, Retinal detachment, Abnormal optic chiasm morphology, Abnormal skeletal... |
ORPHA:1560 |
Bazex Syndrome |
|
Anemia, Scaling skin, Edema |
ORPHA:166113 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Adrenal hypop... |
OMIM:308050 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Depressed nasal bridge, Pneumonia, Anteverted nares, Micrognathia, Bronchiectasis, T l... |
OMIM:242860 |
Adams-Oliver Syndrome 5 |
|
Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hypertension, Patent foramen oval... |
OMIM:616028 |
Rin2 Syndrome |
|
Brachydactyly, Hypergonadotropic hypogonadism, Redundant skin, Cryptorchidism, Bruising susceptib... |
ORPHA:217335 |
Radio-Tartaglia Syndrome |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Ventricular septal defect, Micr... |
OMIM:619312 |
X-Linked Agammaglobulinemia |
|
Thrombocytopenia, Skin ulcer, Anemia, Neutropenia |
ORPHA:47 |
Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Hepatomegaly, Elevated circulating creatine kinase concentration, Hyperl... |
OMIM:232400 |
Corticosteroid-Binding Globulin Deficiency |
|
Anemia, Hypertension, Hypotension, Decreased urinary potassium |
OMIM:611489 |
Cerebral Visual Impairment |
|
Intracranial hemorrhage, Ischemic stroke, Premature birth |
ORPHA:447788 |
Necrotizing Enterocolitis |
|
Shock, Premature birth, Edema, Leukocytosis, Bradycardia, Hypotension, Neutropenia, Ascites, Thro... |
ORPHA:391673 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Death in infancy, Intraventricular hemorrhage, Death in adolescence, Aminoaciduria, Prolonged pro... |
OMIM:619055 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Short nose |
ORPHA:2429 |
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies |
|
Mandibular prognathia, Hallux valgus, Swan neck-like deformities of the fingers, Prominent nasal ... |
OMIM:619880 |
Short Stature-Micrognathia Syndrome |
|
Rhizomelia, Ventricular septal defect, Micrognathia, Bowing of the legs, Cryptorchidism, Metaphys... |
OMIM:617164 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Patent foramen ovale, Coronary-pulmonary artery fistula, Micrognathia |
OMIM:619699 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Short nose, Depressed nasal bridge |
ORPHA:438178 |
Marshall Syndrome |
|
Radial bowing, Depressed nasal bridge, Anteverted nares, Micrognathia, Absent frontal sinuses, Hy... |
OMIM:154780 |
Zygomycosis |
|
Gastrointestinal hemorrhage, Retinal detachment, Pericarditis, Renal insufficiency, Epistaxis, He... |
ORPHA:73263 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Hypoplasia of the... |
ORPHA:179494 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Pancytopenia, Edema, Thrombocytopenia, Splenomegaly, Jaundice, Hepatosplenomegaly, Leukopenia, Pr... |
OMIM:603553 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Hypopituitarism, Depressed nasal bridge, Anteverted ... |
OMIM:613038 |
Chromosome 15Q11.2 Deletion Syndrome |
|
Swan neck-like deformities of the fingers, Arachnodactyly, Single transverse palmar crease, Micro... |
OMIM:615656 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Polycystic ovaries, Hypertrophic cardiomyopathy |
ORPHA:2348 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Micrognathia, Coarctation of aorta, Bifid nose, Foot polydactyly, Shor... |
ORPHA:268249 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Coronary artery stenosis, Hypertri... |
OMIM:615812 |
Tetrasomy 5P |
|
Recurrent respiratory infections, Redundant neck skin, Anteverted nares, Cyanosis, Short hallux, ... |
ORPHA:3309 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Anteverted nares, Splenomegaly, Bulbous nose, Clinodactyly, Talipes eq... |
OMIM:616354 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Microretrogna... |
OMIM:619909 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect, Anteverted nares, Hypoplasia of teeth, Short nose, Retrognathia |
OMIM:234050 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Johnson Neuroectodermal Syndrome |
|
Choanal atresia, Carious teeth, Preaxial hand polydactyly, Bulbous nose, Anosmia, Hand polydactyl... |
ORPHA:2316 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Depressed nasal bridge, Ventricular septal defect, Anterior pituitary hypoplasia, Micrognathia, B... |
OMIM:613457 |
3-Methylglutaconic Aciduria, Type Viib |
|
Abnormal bleeding, Decreased fetal movement, Polyhydramnios, Congestive heart failure, Dehydratio... |
OMIM:616271 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Single transverse palmar crease, Micrognathia, Crypt... |
OMIM:247200 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Hip dislocation |
OMIM:619083 |
Lysinuric Protein Intolerance |
|
Thrombocytopenia, Splenomegaly, Stage 5 chronic kidney disease, Cutis laxa, Leukopenia, Aminoacid... |
OMIM:222700 |
Lig4 Syndrome |
|
Pancytopenia, Cryptorchidism, Telangiectasia, Acute lymphoblastic leukemia, Micropenis, Cutaneous... |
OMIM:606593 |
Baller-Gerold Syndrome |
|
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Prominent nasal b... |
ORPHA:1225 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Optic atrophy, Nephrotic syndrome,... |
OMIM:251300 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased urinary cortisol level, Lymphopenia, Plethora, Dorsocervical fat pad, Myocardial infarc... |
ORPHA:99889 |
Pituitary Apoplexy |
|
Hypertension, Normochromic anemia, Pallor, Hypotension |
ORPHA:95613 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy, Prolonged prothrombin time, Hydrops fetalis |
ORPHA:88618 |
Retinitis Pigmentosa 51 |
|
Pallor, Abnormality of the kidney |
OMIM:613464 |
Vitamin K Antagonist Embryofetopathy |
|
Brachydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia, Epiphyseal stippling, S... |
ORPHA:1914 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Situs inversus totalis, Sp... |
OMIM:208540 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:616277 |
Cerebellar-Facial-Dental Syndrome |
|
Ventricular septal defect, Anteverted nares, Single transverse palmar crease, Micrognathia, Taper... |
ORPHA:444072 |
Poikiloderma With Neutropenia |
|
Depressed nasal bridge, Underdeveloped nasal alae, Micrognathia, Recurrent bronchopulmonary infec... |
OMIM:604173 |
Desmosterolosis |
|
Hypoplastic nasal bridge, Anteverted nares, Rhizomelia, Micrognathia, Patent ductus arteriosus, B... |
OMIM:602398 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect, Prominent nasal bridge, Choanal atresia, Patent ductus arteriosus, Ret... |
ORPHA:52055 |
Nicolaides-Baraitser Syndrome |
|
Single transverse palmar crease, Short metatarsal, Prominent interphalangeal joints, Short phalan... |
OMIM:601358 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Hallux valgus, Contracture of the proximal interphalangeal joint of the 2nd finger, Poor wound he... |
OMIM:130060 |
2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Abnormal tibia morphology, Short palm, Clinodactyly of the 5th finger, Atrial septa... |
ORPHA:251014 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Urethral stricture, Pancytopenia, Aplastic anemia, Cryptorchidism, Urethral stenosis, Premature g... |
OMIM:613990 |
Bohring-Opitz Syndrome |
|
Syndactyly, Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Micrognathia, Me... |
OMIM:605039 |
Chédiak-Higashi Syndrome |
|
Edema, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Abnormal ble... |
ORPHA:167 |
Geleophysic Dysplasia 1 |
|
Mitral stenosis, Anteverted nares, Tricuspid stenosis, Camptodactyly of finger, Coxa valga, Lack ... |
OMIM:231050 |
Vexas Syndrome |
|
Macrocytic anemia, Arteritis, Thrombocytopenia |
OMIM:301054 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmona... |
OMIM:611812 |
Treacher-Collins Syndrome |
|
Choanal atresia, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Cryp... |
ORPHA:861 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Exercise-induced rhabdomyolysis, Hepatomegaly, Death in infancy, Dicarboxylic aciduria, Sudden ca... |
OMIM:201475 |
Griscelli Syndrome |
|
Abnormality of neutrophils, Splenomegaly, Jaundice, Pedal edema, Premature graying of hair, Leuko... |
ORPHA:381 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tapered finger, Respiratory tract infection, Hypoplasia of the maxilla, Long fingers, Wide nasal ... |
OMIM:218000 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Optic atrophy, Bradycardia, Hypertrophic cardiomyopathy |
OMIM:614702 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... |
ORPHA:93357 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Polycystic ovaries, Hyperuricemia, Hypertrophic... |
ORPHA:79083 |
Craniofacial Microsomia 1 |
|
Ventricular septal defect, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Par... |
OMIM:164210 |
Factor V Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... |
OMIM:227400 |
Felty Syndrome |
|
Recurrent urinary tract infections, Pericarditis, Thrombocytopenia, Splenomegaly, Neutropenia, Ab... |
ORPHA:47612 |
Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Ventricular septal defect, Tarsal synostosis, Cryptorchidism, Patent ductus ar... |
ORPHA:2473 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Hydrops fetalis, Renal hypoplasia, Renal cyst, Polycystic kidney dysplasia, Ascites |
OMIM:614091 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Edema, Hematemesis, Pericardial effusion, Thrombocytopenia, Vascu... |
OMIM:615846 |
Duane-Radial Ray Syndrome |
|
Abnormal nasopharynx morphology, Preaxial polydactyly, Shoulder dislocation, Choanal stenosis, Tr... |
OMIM:607323 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Mitral valv... |
OMIM:616564 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Ske... |
OMIM:300280 |
Citrullinemia, Type Ii, Adult-Onset |
|
Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia |
OMIM:603471 |
Grange Syndrome |
|
Syndactyly, Bicuspid aortic valve, Carotid artery stenosis, Finger clinodactyly, Renal artery ste... |
OMIM:602531 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Broad nasal tip, Tapered finger, Short toe, Wide nasal bridge, Abnormal he... |
OMIM:239300 |
Cryoglobulinemia, Familial Mixed |
|
Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology |
OMIM:123550 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Prominent nasal bridge, Choanal atresia, Bilateral cryptorchidism, Pat... |
OMIM:300472 |
Al Kaissi Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Small hand, Wide nasal bridge, Deep palmar crease, Atria... |
OMIM:617694 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure, Short palm,... |
OMIM:166250 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Ventricular septal defect, Abnormal dental ... |
ORPHA:1782 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Bardet-Biedl Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Hyper... |
ORPHA:110 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose |
OMIM:245570 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension, Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art... |
ORPHA:210122 |
Scleromyxedema |
|
Abnormal coronary artery morphology, Transient ischemic attack, Aged leonine appearance, Abnormal... |
ORPHA:167635 |
Mucopolysaccharidosis, Type Vii |
|
Heparan sulfate excretion in urine, Splenomegaly, Hydrops fetalis, Dermatan sulfate excretion in ... |
OMIM:253220 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Brachydactyly, Ventricular septal defect, Polycystic ovaries, Large hands, Short columella, Broad... |
ORPHA:1770 |
Chikungunya |
|
Abnormal bleeding, Epistaxis, Cervical lymphadenopathy, Erythema, Lymphadenopathy, Gingival bleed... |
ORPHA:324625 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Increased circulating fe... |
OMIM:235200 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Wide nose, Ventricular septal defect, Underdeveloped nasal alae, Cryptorchidism, Patent ductus ar... |
OMIM:617506 |
Relapsing Polychondritis |
|
Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Myocarditis, Erythema, Large vess... |
ORPHA:728 |
Arthrogryposis, Distal, Type 2A |
|
Mandibular prognathia, Recurrent respiratory infections, Hip contracture, Flexion contracture of ... |
OMIM:193700 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Ventricular septal defect, Anteverted nares, Proximal placement of thumb, Rock... |
OMIM:619762 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Anteverted nares, Choanal at... |
OMIM:301044 |
Desmosterolosis |
|
Depressed nasal bridge, Micromelia, Abnormality of the nose, Micrognathia, Splenomegaly, Patent d... |
ORPHA:35107 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Depressed nasal bridge, Arachnodactyly, Arterial tortuosity, Microg... |
OMIM:614437 |
Abetalipoproteinemia |
|
Abnormal bleeding, Reticulocytosis, Acanthocytosis, Congestive heart failure, Prolonged prothromb... |
ORPHA:14 |
Avian Influenza |
|
Lymphopenia, Miscarriage, Congestive heart failure, Leukopenia, Pleural effusion, Acute kidney in... |
ORPHA:454836 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Recurrent respiratory infections, Natal tooth, Anteverted nares, Single tr... |
OMIM:610253 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Retinal detachment |
ORPHA:3218 |
Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Anteverted nares, Underdeveloped nasal alae, Carious teeth, Clinodactyly, 4-... |
OMIM:164200 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Splenomegaly, Patent ductus arteriosus, Abnormality of the ureter, Amin... |
ORPHA:30 |
Otospondylomegaepiphyseal Dysplasia |
|
Retinal detachment, Degenerative vitreoretinopathy |
ORPHA:1427 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Brachydactyly, Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Underdeveloped nasa... |
ORPHA:2083 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Retinal detachment, Macular coloboma |
OMIM:615145 |
Holoprosencephaly 14 |
|
Anteverted nares, Ventricular septal defect, Proboscis, Aortic valve atresia, Double outlet right... |
OMIM:619895 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Conge... |
OMIM:236670 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Thrombocytopenia, Enuresis, Renal Fanconi syndrome, Proximal tubu... |
OMIM:619743 |
Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Hypoplastic iliac wing, Atrial septal defect, P... |
OMIM:139210 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Cholestasis-Lymphedema Syndrome |
|
Splenomegaly, Hepatomegaly, Hyperlipidemia, Conjugated hyperbilirubinemia |
OMIM:214900 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Hepatomegaly, Death in infancy, Ureteral duplication, Renal insufficiency, Long-... |
OMIM:608836 |
Meier-Gorlin Syndrome 7 |
|
2-4 finger syndactyly, Ventricular septal defect, Choanal atresia, Aplasia/Hypoplasia of the pate... |
OMIM:617063 |
Kniest Dysplasia |
|
Retinal detachment, Hip contracture |
OMIM:156550 |
Citrullinemia Type Ii |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia... |
ORPHA:247585 |
Short Syndrome |
|
Delayed eruption of teeth, Enlarged epiphyses, Prominent superficial veins, Micrognathia, Underde... |
OMIM:269880 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Cardiomegaly, Right bund... |
ORPHA:268 |
Knobloch Syndrome 1 |
|
Duplicated collecting system, Retinal detachment, Optic disc pallor, Renal duplication, Patent du... |
OMIM:267750 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Vertebral hypoplasia, Short metacarpal, Radial bow... |
OMIM:108720 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Edema, Fluctuating splenomegaly, Thrombocytopenia, Leukocytosis, H... |
OMIM:610377 |
8P Inverted Duplication/Deletion Syndrome |
|
Small hypothenar eminence, Anteverted nares, Dextrocardia, Micrognathia, Precocious puberty, Cryp... |
ORPHA:96092 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:259710 |
Cohen Syndrome |
|
Finger syndactyly, Ventricular septal defect, Prominent nasal bridge, Arachnodactyly, Micrognathi... |
ORPHA:193 |
Craniofacial Dyssynostosis With Short Stature |
|
Malar flattening, Patent ductus arteriosus, Ventricular septal defect, Cryptorchidism |
OMIM:218350 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Anemia |
ORPHA:371 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Mandibular prognathia, Congenital hip dislocation, Telangiectasia of the skin, Depressed nasal br... |
OMIM:616007 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Overlapping toe, Bulbous nose, Wide nasal bridge, Abnormal heart morphology, S... |
OMIM:618571 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Portal hypertension, Chronic kidney disease, Renal a... |
ORPHA:84081 |
Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect, Micrognathia |
OMIM:243440 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic regurgitation, Abnormal optic chiasm morphology, Retinal detachment, Recurrent urinary tra... |
ORPHA:268261 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Abnormal bleeding, Hepatomegaly, Renal cyst, Proximal tubulopathy, Death in childhood, Lymphangie... |
OMIM:602579 |
19P13.12 Microdeletion Syndrome |
|
Narrow nasal bridge, Finger syndactyly, Toe clinodactyly, Ventricular septal defect, Anteverted n... |
ORPHA:254346 |
Non-Functioning Pituitary Adenoma |
|
Macroorchidism, postpubertal, Anemia of inadequate production, Pallor, Hypotension, Macroorchidism |
ORPHA:91349 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Heart block, Myoglobinuri... |
ORPHA:228308 |
Pericardial And Diaphragmatic Defect |
|
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Pulmonary hypoplasia,... |
ORPHA:2847 |
Tangier Disease |
|
Accelerated atherosclerosis, Carotid artery stenosis, Hepatosplenomegaly, Anemia, Dry skin, Throm... |
ORPHA:31150 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Clinodactyly, Micrognathia |
OMIM:300934 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morphology |
OMIM:614227 |
Proteus Syndrome |
|
Splenomegaly, Venous malformation |
OMIM:176920 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Finger syndactyly, Brachydactyly, Carious teeth, Cryptorchidism, Small hand, H... |
ORPHA:1786 |
Larsen Syndrome |
|
Short metacarpal, Ventricular septal defect, Depressed nasal bridge, Spatulate thumbs, Elbow disl... |
OMIM:150250 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Cryptorchidism, Slender nose, Short nose, Micrognathia |
OMIM:615419 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Retinal hem... |
OMIM:175780 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Ventricular septal defect, Depressed nasal bridge, Micrognathia |
OMIM:616901 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Brachydactyly, Depressed nasal bridge, Anteverted nares, Micrognathia, Cryptorchidism, Clinodacty... |
OMIM:616331 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Trisomy 12P |
|
Supernumerary nipple, Micrognathia, Wide nasal bridge, Large hands, Clinodactyly of the 5th finge... |
ORPHA:1699 |
Trisomy 17P |
|
Skeletal muscle atrophy, Hypoplasia of penis, Urethral valve, Patent ductus arteriosus, Flexion c... |
ORPHA:261290 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Depressed nasal bridge, Hurthle cell thyroid adenoma, Preaxial hand polydactyly, Thyroid carcinom... |
ORPHA:210548 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ... |
OMIM:269250 |
Nephrolithiasis, Calcium Oxalate, 1 |
|
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... |
OMIM:167030 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Mitral valve prolapse, Mitr... |
ORPHA:555877 |
Kapur-Toriello Syndrome |
|
Patent ductus arteriosus, Bulbous nose, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:2328 |
Sandhoff Disease |
|
Skeletal muscle atrophy, Orthostatic hypotension, Hepatomegaly, Urinary incontinence, Cardiomegal... |
OMIM:268800 |
Solitary Rectal Ulcer Syndrome |
|
Hematochezia, Anemia |
ORPHA:209964 |
Microform Holoprosencephaly |
|
Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Maternal diabetes, Pan... |
ORPHA:280200 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e... |
OMIM:261740 |
Doors Syndrome |
|
Adrenal hyperplasia, Abnormal finger morphology, Aspiration pneumonia, Triphalangeal thumb, Clino... |
ORPHA:79500 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Multiple renal cysts, Renal cyst |
OMIM:614883 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Nephrocalcinosis, Persistence of hemoglob... |
OMIM:260400 |
16P13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Metatarsus valgus, Camptodac... |
ORPHA:261236 |
Takenouchi-Kosaki Syndrome |
|
Overlapping toe, Increased mean platelet volume, Proximal placement of thumb, Tapered finger, Cry... |
OMIM:616737 |
Platyspondylic Dysplasia, Torrance Type |
|
Hydrops fetalis, Polyhydramnios |
ORPHA:85166 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Ventricular septal defect, Hypoplasia of the thymus, Congenital pulm... |
ORPHA:436252 |
Marshall-Smith Syndrome |
|
Bilateral cryptorchidism, Distal widening of metacarpals, Coxa vara, Choanal stenosis, Aspiration... |
OMIM:602535 |
Schaaf-Yang Syndrome |
|
Mandibular prognathia, Rocker bottom foot, Tapered finger, Cryptorchidism, Small hand, Narrow pal... |
OMIM:615547 |
Achondrogenesis, Type Ia |
|
Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Stillbirth, Absence of stomach bu... |
OMIM:200600 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Single umbilical artery, Miscarriage, Hydrops fetalis, Increased placental thickness |
ORPHA:1865 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Maturity-onset diabetes of the young, Microg... |
ORPHA:96184 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Cystathioninur... |
OMIM:277400 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Skeletal muscle atrophy, Hepatomegaly, Dicarboxylic acidu... |
ORPHA:42 |
Codas Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Ventricul... |
OMIM:600373 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Hematuria, Hypertensi... |
ORPHA:536 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Retinal telangiectasia, Anemia, Premature graying of hair, Intestinal bleeding, Gastrointestinal ... |
OMIM:612199 |
Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Hypothyroidism, Cryptorchidism, Pulmonic stenosis, Atrial septal defec... |
ORPHA:3282 |
Zellweger Syndrome |
|
Hepatomegaly, Death in infancy, Multicystic kidney dysplasia, Abnormal chorioretinal morphology, ... |
ORPHA:912 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Tapered finger, Cryptorchidism, Denta... |
OMIM:616202 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Thrombocytopenia, Leukocytosis, Cerebral edema |
ORPHA:83601 |
Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Depressed nasal ridge, Abnormal lung lobation, Gonadotropin deficiency, Atria... |
ORPHA:672 |
Porphyria Variegata |
|
Neurogenic bladder, Tachycardia, Chronic kidney disease, Porphyrinuria, Hypertension, Increased u... |
ORPHA:79473 |
Noonan Syndrome 1 |
|
Abnormal bleeding, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricula... |
OMIM:163950 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Myoglobinuria, Rhabdomyolysis, Red-brown urine, Stage 5 chronic kidney disease, Ren... |
ORPHA:157 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Medial calcification of large arteries, Autoimmune thrombocytopenia,... |
ORPHA:391487 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect, Micrognathia |
OMIM:607598 |
Marfan Syndrome |
|
Aortic regurgitation, Retinal detachment, Decreased muscle mass, Tricuspid regurgitation, Bicuspi... |
OMIM:154700 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Single transverse palmar crease, Micrognathia, Choanal stenosis, Atrial septal defect, Hypothyroi... |
OMIM:620186 |
Degcags Syndrome |
|
Polyhydramnios, Bilateral renal hypoplasia, Premature graying of hair, Leukopenia, Iron deficienc... |
OMIM:619488 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Ventricular septal defect, Foot oligodactyly, Amelia |
OMIM:601357 |
Non-Distal Duplication 13Q |
|
Arachnodactyly, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Short nose |
ORPHA:1702 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short nose |
OMIM:137550 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Vasculitis, Decreased mean platelet volume, Hematochezia, Subconjunctival hemorrhage, Lymphocytos... |
OMIM:617718 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Urinary incontinence, Subarachnoid hemorrha... |
OMIM:232300 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Thrombocytopenia, Portal hypertension, Hepatosplenomegaly |
ORPHA:210136 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Hypertension, Telangiectasia |
OMIM:219250 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Urethral stricture, Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Premature graying of h... |
OMIM:613989 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:612783 |
Rabin-Pappas Syndrome |
|
Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia |
OMIM:620155 |
Marfan Syndrome |
|
Retinal detachment, Skeletal muscle atrophy, Mitral valve calcification, Congestive heart failure... |
ORPHA:558 |
Fetal Alcohol Syndrome |
|
Atrial septal defect, Short nose, Anteverted nares, Micrognathia |
ORPHA:1915 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Pulmonary artery stenosis, Pallor, Pulmonary arterial hypertension, Bruising suscep... |
ORPHA:667 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Proteinuria, Renal Fanconi syndrome, Pallor, Glycosuria |
ORPHA:263455 |
Eiken Syndrome |
|
Broad femoral neck, Persistence of primary teeth, Delayed epiphyseal ossification, Clinodactyly, ... |
OMIM:600002 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Missing ribs, Bilateral cryptorchidism... |
OMIM:619859 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Genital edema, Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, V... |
ORPHA:568051 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Hypoplasia of the odontoid process, Clinodactyly, Hypo... |
OMIM:184250 |
Jacobsen Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Depressed nasal bridge, Anteverted n... |
OMIM:147791 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Cutis marmorata, Raynaud phenomenon, Erythema, Livedo reticularis, Telangiectasia, Leukopenia, Th... |
OMIM:615934 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Congenital Tracheal Stenosis |
|
Cyanosis, Ventricular septal defect, Ascending aorta hypoplasia, Abnormal lung morphology, Patent... |
ORPHA:141127 |
Joubert Syndrome 39 |
|
Retinal dystrophy, Hypoplastic left heart, Joint contracture of the 5th finger, Polycystic kidney... |
OMIM:619562 |
Emanuel Syndrome |
|
Delayed eruption of teeth, Recurrent respiratory infections, Broad jaw, Redundant neck skin, Trun... |
ORPHA:96170 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Scapular winging, Hepatomegaly, Congestive heart failure, Glutaric acidu... |
ORPHA:26791 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Proteinuria, Heparan sulfate excretion in urine, Congestive... |
ORPHA:505248 |
Diamond-Blackfan Anemia 21 |
|
Aortic regurgitation, Cutis marmorata, Erythroid hypoplasia, Anemia, Thrombocytopenia |
OMIM:620072 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Prolonged neonatal jaundice, Clinod... |
OMIM:618828 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Premature graying of hair, Leukopenia, Increased mean corpuscu... |
OMIM:127550 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno... |
ORPHA:158061 |
Atelis Syndrome 2 |
|
Single transverse palmar crease, Prominent nose, Micrognathia, Thrombocytopenia, Patent ductus ar... |
OMIM:620185 |
Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... |
ORPHA:93259 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Micrognathia, Complete atrioventricular canal defect... |
OMIM:236680 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment |
OMIM:225200 |
Adams-Oliver Syndrome 1 |
|
Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Cutis marmorata, Supernumerary ... |
OMIM:100300 |
Neonatal Marfan Syndrome |
|
Long toe, Arachnodactyly, Micrognathia, Long fingers, Abnormal cardiac ventricle morphology, Wide... |
ORPHA:284979 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Nephrocalci... |
OMIM:615398 |
Weill-Marchesani Syndrome 1 |
|
Ventricular septal defect, Depressed nasal bridge, Hypoplasia of the maxilla, Patent ductus arter... |
OMIM:277600 |
Noonan Syndrome 14 |
|
Lymphopenia, Scapular winging, Prominent nasal bridge, Cryptorchidism, Clinodactyly, Mitral valve... |
OMIM:619745 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Periorbital edema, B lymphocytopenia, Decreased proportion of memory B c... |
OMIM:618048 |
Bleeding Disorder, Platelet-Type, 12 |
|
Epistaxis, Intestinal bleeding, Menorrhagia, Impaired platelet aggregation, Bruising susceptibili... |
OMIM:605735 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Prominent superficial veins, Congenital hip dislocation, Bowing of the long bones, Redundant skin... |
OMIM:612940 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Mandibular prognathia, Metaphyseal widening, Coxa vara, Neutropenia, Genu varum, Depressed nasal ... |
OMIM:271510 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Ventricular septal defect, Choanal atresia, Micrognathia, Patent ductus arteri... |
OMIM:613309 |
Koolen-De Vries Syndrome |
|
Prominent fingertip pads, Bicuspid aortic valve, Prominent nasal bridge, Ventricular septal defec... |
OMIM:610443 |
Cystinuria |
|
Hematuria, Renal insufficiency, Nephrolithiasis |
ORPHA:214 |
Aase-Smith Syndrome I |
|
Slender finger, Ventricular septal defect, Talipes equinovarus |
OMIM:147800 |
Baker-Gordon Syndrome |
|
Prominent nasal tip, Short nose |
OMIM:618218 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Microg... |
ORPHA:1234 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Radi... |
OMIM:268310 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Bruising susceptibility, Calcaneovalgus deformity, Mitral valve prolapse |
OMIM:225320 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Patent ductus arteriosus, Hydrocele testi... |
OMIM:614080 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Microretrognathia, Tapered finger, Intraventricular hemorrhage, Wide nasal... |
OMIM:613603 |
Ebola Hemorrhagic Fever |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Melena, Leukopenia, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab... |
ORPHA:402075 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Cranioectodermal Dysplasia 2 |
|
Renal insufficiency, Polyhydramnios, Splenomegaly, Patent ductus arteriosus, Hydrops fetalis, Ren... |
OMIM:613610 |
Cat Eye Syndrome |
|
Ventricular septal defect, Micrognathia, Absent radius, Patent ductus arteriosus, Hypoplastic lef... |
OMIM:115470 |
Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... |
OMIM:614076 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Death in infancy, Neutropenia, Prolonged prothrombin time, Death in childhood,... |
OMIM:617941 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Redundant neck skin, Ventricular septal defect, Broad nasal tip, Micrognathia, Pancreatic lymphan... |
ORPHA:1655 |
Hyperuricemia, Hprt-Related |
|
Renal insufficiency, Nephrolithiasis, Hyperuricosuria |
OMIM:300323 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Short nose, Anteverted nares, Long hallux, Tapered finger |
OMIM:619854 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation, Proteinuria, Flexion contractu... |
OMIM:619127 |
Congenital Disorder Of Glycosylation, Type Id |
|
Depressed nasal bridge, Long fingers, Bulbous nose, Wide nasal bridge, Talipes equinovarus, Clino... |
OMIM:601110 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Metaphyseal dysplasia, Decreased response to growth hormone stimulation test, Micrognathia, Long ... |
OMIM:618336 |
Ctcf-Related Neurodevelopmental Disorder |
|
Prominent fingertip pads, Broad hallux phalanx, Anteverted nares, Single transverse palmar crease... |
ORPHA:363611 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Retinal detachment, Congestive heart failure, Arterial rupture, Blad... |
OMIM:225400 |
Braddock-Carey Syndrome 2 |
|
Thrombocytopenia |
OMIM:619981 |
Ventriculomegaly With Cystic Kidney Disease |
|
Postaxial polydactyly, Ventricular septal defect, Vascular dilatation |
OMIM:219730 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Decreased response to growth... |
OMIM:615866 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Anteverted nares, Choanal atresia, Micrognathia, Cryptorchidism, Abnor... |
ORPHA:494344 |
Retinoblastoma |
|
Retinal calcification, Vitreous hemorrhage, Vitritis, Retinoblastoma |
OMIM:180200 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Clinodactyly |
OMIM:300928 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Redundant neck skin, Single transverse palmar crease... |
ORPHA:3472 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Depressed nasal bridge, Decreased response to growth... |
OMIM:614732 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Anteverted nares, Choanal atresia, Retrognathia, Slender long bone, Sho... |
ORPHA:561 |
Angioosteohypotrophic Syndrome |
|
Venous malformation, Prominent superficial veins, Telangiectasia of the skin, Edema |
ORPHA:75508 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Cryptorchidism, Ventricular septal defect, Prominent nasal bridge, Supernumerary nipple |
OMIM:617635 |
16P11.2P12.2 Microdeletion Syndrome |
|
Microretrognathia, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement ... |
ORPHA:261211 |
Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Cyanosis, Anteverted nares, Postaxial po... |
OMIM:619879 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Clinodactyly of the 5th finger, Microretrognathia, Finger syndactyly, Pers... |
OMIM:200990 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Microretrognathia, Brachydactyly, Anteverted nares, Proportionate shortening of all digits, Taper... |
ORPHA:280633 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cell carcinoma, Cutaneous leiomyosarcoma, Renal cyst |
OMIM:135150 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas... |
ORPHA:2526 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ... |
ORPHA:1352 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Diabetes mellitus, Dextrocardia, Underdeveloped nasal alae, Abnormal c... |
ORPHA:2315 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
Neuromuscular Oculoauditory Syndrome |
|
Chorioretinal lacunae, Retinal pigment epithelial mottling, Knee flexion contracture, Calf muscle... |
OMIM:618733 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Thrombocytopenia, Cryptorchidism, Gi... |
OMIM:611209 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Spider hemangioma, Hematuria, Hypertension, Focal... |
OMIM:232240 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Lymphadenopath... |
OMIM:603554 |
Encephalocraniocutaneous Lipomatosis |
|
Peripheral pulmonary artery stenosis, Ventricular septal defect, Cryptorchidism, Subvalvular aort... |
OMIM:613001 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Renal cyst, Nephrocalcinosis, Cardiomyopathy, 3-Methylglutaconic aciduria |
ORPHA:445038 |
Antiphospholipid Syndrome, Familial |
|
Retinal vasculitis, Retinal detachment, Vitritis, Central retinal artery occlusion |
OMIM:107320 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec... |
OMIM:256700 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Prominent fingertip pads, Short nose, Anteverted nares, Prominent nasal bridge |
OMIM:300558 |
Costello Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Redundant skin, Abnormal dental enamel morphol... |
ORPHA:3071 |
Marshall Syndrome |
|
Retinal detachment, Vitreoretinopathy, Abnormal vitreous humor morphology |
ORPHA:560 |
Ruijs-Aalfs Syndrome |
|
Prominent nasal bridge, Single transverse palmar crease, Micrognathia, Down-sloping shoulders, Bu... |
OMIM:616200 |
Loeys-Dietz Syndrome |
|
Abnormal bleeding, Striae distensae, Arachnodactyly, Camptodactyly of finger, Arterial tortuosity... |
ORPHA:60030 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Micrognathia, Calcaneovalgus deformity, Depressed nasal ridge, Patent foramen ovale, ... |
OMIM:256520 |
Ellis Van Creveld Syndrome |
|
Micromelia, Conical incisor, Atrial septal defect, Emphysema, Atrioventricular canal defect, Syno... |
ORPHA:289 |
Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Prematurely aged appearance, Acroosteolysis of distal phalan... |
ORPHA:90154 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... |
OMIM:619051 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Nephrotic syndrome, Left ve... |
OMIM:617713 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nippl... |
ORPHA:457279 |
Cystic Echinococcosis |
|
Hepatomegaly, Abnormality of the testis size, Renal cyst, Abnormal heart morphology, Membranous n... |
ORPHA:400 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Mandibular prognathia, Syndactyly, Short nose, Clinodactyly |
OMIM:618087 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Short nose, Thick nasal alae, Retrognathia, Micrognathia |
ORPHA:163961 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Hypoplastic left heart, Tetralog... |
OMIM:618748 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Depressed nasal bridge, Duplication of thumb phalanx, Tarsal synost... |
ORPHA:2756 |
Hydatidiform Mole |
|
Miscarriage, Anemia |
ORPHA:99927 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor, Poor wound healing |
ORPHA:536516 |
Spinocerebellar Ataxia 47 |
|
Clinodactyly, Small hand, Wide nasal bridge, Tapered finger |
OMIM:617931 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL choles... |
ORPHA:412 |
Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Ventricular septal defect, Dextrocardia, Cryptorchidism, Long fingers, Coronar... |
OMIM:614294 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Congestive heart failure, Optic atrophy, Cardiomyopathy, 3-Methylglutaconic aciduri... |
OMIM:619259 |
Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy,... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy,... |
ORPHA:98853 |
Aneurysm-Osteoarthritis Syndrome |
|
Striae distensae, Arterial dissection, Arachnodactyly, Protrusio acetabuli, Osteoarthritis of the... |
ORPHA:284984 |
Hemophilia A |
|
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Muscle hemorrhage |
OMIM:306700 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Flexion contracture, Polycystic kidney dysplasia, Congenital diaphragmatic hernia, Abnormal heart... |
OMIM:263210 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Optic atrophy, Macular hypoplasia, Chorioretinal coloboma, Atrial septal defect, Right atrial enl... |
OMIM:615219 |
Fetal Valproate Spectrum Disorder |
|
Short nose, Depressed nasal ridge |
ORPHA:1906 |
Greenberg Dysplasia |
|
Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Increased nucha... |
OMIM:215140 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... |
OMIM:613795 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Talon cusp, Short metatarsal, ... |
OMIM:605282 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
|
Bruising susceptibility, Arterial rupture, Poor wound healing, Dermal translucency |
OMIM:619120 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Re... |
OMIM:618460 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Cerebral edema, Facial erythema |
ORPHA:439218 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulo... |
OMIM:231680 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Atrial septal defect, Bruising susceptibility, Poor wound healing, Dermal translucency |
OMIM:619115 |
3Q29 Microdeletion Syndrome |
|
Prominent nasal bridge, Tapered finger, Patent ductus arteriosus, Subvalvular aortic stenosis, Cl... |
ORPHA:65286 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Rhabdom... |
OMIM:614921 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Ventricular septal defect, Decreased response to growth hormone... |
OMIM:610978 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Anteverted nares, Short proximal phalanx of the 2nd fin... |
ORPHA:261323 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Ventricular septal defect, Renal cyst, Mitral valve prolapse, Macroglossia, Va... |
OMIM:617107 |
Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease, Anemia |
OMIM:620366 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Duplicated collecting system, Death in infancy, Bilateral fetal pyelectasis, Polyhydramnios, Sebo... |
OMIM:300868 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr... |
OMIM:259720 |
Wolman Disease |
|
Anemia, Splenomegaly, Ascites, Bone-marrow foam cells |
ORPHA:75233 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Dilated cardiomyopathy, Elevated circulating creatine ki... |
ORPHA:98855 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Renal cyst, Chorioretinal coloboma |
ORPHA:2031 |
Leopard Syndrome 1 |
|
Mandibular prognathia, Scapular winging, Limited elbow movement, Missing ribs, Delayed menarche, ... |
OMIM:151100 |
Isolated Sedoheptulokinase Deficiency |
|
Renal insufficiency, Portal hypertension, Breech presentation, Hypochromic microcytic anemia, Ane... |
ORPHA:440713 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Retinal astrocytic hamartoma, Abnormality of the kidney, Retinal hamartoma, ... |
ORPHA:805 |
Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Ventricular septal defect, Camptodactyly of finger, Abnormalit... |
ORPHA:3138 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Short nose, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Broad nasal tip |
OMIM:615716 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten... |
ORPHA:308552 |
Alstrom Syndrome |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hy... |
OMIM:203800 |
Facial Paresis, Hereditary Congenital, 3 |
|
Depressed nasal bridge, Anteverted nares, Short nose, Micrognathia |
OMIM:614744 |
Spondyloocular Syndrome |
|
Retinal detachment, Unilateral cryptorchidism, Mitral valve prolapse, Atrial septal defect, Dyspl... |
OMIM:605822 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Redundant neck skin, Ventricular septal defect, Prominent nasal bridge, Bulbous nose, Wide nasal ... |
OMIM:617360 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Acne, Renal salt wasting, Long penis, Intracranial hemorrhage, Hypertension, Increased urinary 11... |
ORPHA:90795 |
Meckel Syndrome, Type 4 |
|
Atrial septal defect, Ventricular septal defect, Renal cyst |
OMIM:611134 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
King-Denborough Syndrome |
|
Ventricular septal defect, Broad nasal tip, Bilateral cryptorchidism, Cryptorchidism, Low hanging... |
OMIM:619542 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Thrombocytopenia |
OMIM:616577 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Cholesterol ... |
ORPHA:209902 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal os... |
OMIM:271640 |
Carpenter Syndrome 2 |
|
Single transverse palmar crease, Bilateral cryptorchidism, Preaxial polydactyly, Coxa vara, Cutan... |
OMIM:614976 |
Good Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Recurrent urinary tract infections, Anemia |
ORPHA:169105 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Hypoplastic scapulae, Ventricular septal defect, Bowing of the legs, Bowing of the a... |
OMIM:269860 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
Esophageal Atresia |
|
Recurrent respiratory infections, Cyanosis, Ventricular septal defect, Choanal atresia, Bronchiti... |
ORPHA:1199 |
Wilson Disease |
|
Hemolytic anemia, Hyperphosphaturia, Proteinuria, Edema, Thrombocytopenia, Splenomegaly, Jaundice... |
OMIM:277900 |
Fanconi Anemia, Complementation Group S |
|
Anteverted nares, Prominent nasal bridge, Proximal placement of thumb, Underdeveloped nasal alae,... |
OMIM:617883 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Scapular winging, Depressed nasal bridge, Anteverted nares, Dental mal... |
OMIM:612921 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Supernumera... |
OMIM:612530 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Central retinal vessel vascular tortuosity, Finger clinodactyly, Short tibia, Atrio... |
ORPHA:2751 |
Norrie Disease |
|
Retinal detachment, Retinal fold, Optic atrophy, Retinal dysplasia |
OMIM:310600 |
Dravet Syndrome |
|
Cyanotic episode, Pallor |
ORPHA:33069 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Short nose, Micrognathia |
OMIM:615042 |
Floating-Harbor Syndrome |
|
Long nose, Hypoplasia of the maxilla, Humeral pseudarthrosis, Atrial septal defect, Mesocardia, D... |
ORPHA:2044 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Short metacarpal, Short fourth metatarsal, Depressed nasal bridge, Overlapping toe, Femoral bowin... |
OMIM:616723 |
Schilbach-Rott Syndrome |
|
Micrognathia, Long nose, Prominent nose, 2-3 toe cutaneous syndactyly, 3-4 finger cutaneous synda... |
OMIM:164220 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Venous insufficiency, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2n... |
ORPHA:1106 |
Attenuated Chédiak-Higashi Syndrome |
|
Bruising susceptibility, Epistaxis, Skin ulcer, Gingival bleeding |
ORPHA:352723 |
Tuberous Sclerosis 2 |
|
Wolff-Parkinson-White syndrome, Absence of renal corticomedullary differentiation, Retinal hamart... |
OMIM:613254 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Micrognathia, Cryptorchidism, Patent ductus art... |
OMIM:130720 |
Opsismodysplasia |
|
Recurrent respiratory infections, Short metacarpal, Depressed nasal bridge, Anteverted nares, Rhi... |
OMIM:258480 |
Tuberous Sclerosis 1 |
|
Wolff-Parkinson-White syndrome, Renal cyst, Cardiac rhabdomyoma, Achromatic retinal patches, Rena... |
OMIM:191100 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Fasting hyperinsulinemia, Premature graying of hair, Atrial septal defect,... |
ORPHA:769 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Acanthocytosis |
ORPHA:157850 |
Au-Kline Syndrome |
|
Overlapping toe, Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal... |
OMIM:616580 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Convex nasal ridge, Ventricular septal defect, Prominent nasal bridge |
ORPHA:261190 |
Serkal Syndrome |
|
Abnormality of the adrenal glands, Ventricular septal defect, Pulmonary hypoplasia, Pulmonic sten... |
ORPHA:139466 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Bicuspid aortic valve, Redundant skin, Micrognathia, Atrial septal defect,... |
OMIM:612289 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent nasal bridge, Recurrent pneumonia, Wide nasal bridge, Short nose, Patent foramen ovale |
OMIM:619179 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Death in childhood, Aminoaciduria, Ren... |
OMIM:220110 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Micrognathia, Bowing of the legs, Depressed nasal ridge, Triangular shaped distal pha... |
OMIM:271665 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Microretrognathia, Hip contracture, Brachydactyly, Overlapping toe, Rocker bottom foot, Tapered f... |
ORPHA:488642 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Sinusitis, Diabetes mellitus, Female hypogonadism, Bronchiectasis, A... |
OMIM:208900 |
H Syndrome |
|
Abnormality of the kidney, Microcytic anemia, Abnormal cardiovascular system physiology, Upper ey... |
ORPHA:168569 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Cryptorchidism, Ventricular septal defect, Hypothyroidism |
OMIM:619908 |
Macrocephaly/Autism Syndrome |
|
Dilation of Virchow-Robin spaces, Depressed nasal bridge, Splenomegaly, Cutis laxa, Hydrocele tes... |
OMIM:605309 |
Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia |
OMIM:612528 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Oligosacchariduria, Cardiomegaly |
ORPHA:3137 |
Orofaciodigital Syndrome V |
|
Recurrent respiratory infections, Unilateral cryptorchidism, Ventricular septal defect, Sandal ga... |
OMIM:174300 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertrophic cardiomyopathy, Hypertriglyceridemia, Eleva... |
ORPHA:98863 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Poor wound ... |
ORPHA:536545 |
Bainbridge-Ropers Syndrome |
|
Ulnar deviation of the hand, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Un... |
OMIM:615485 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Abnormal bleeding, Proteinuria, Epistaxis, Chronic neutropenia, Prolonged bleeding following proc... |
ORPHA:79259 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Wide nose, Anteverted nares, Decreased response to growt... |
OMIM:213980 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Wide nasal bridge, Increased mean corpuscular volume, Neutropenia, Short nose |
OMIM:612563 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cardiomyopathy, Thrombocytopenia |
OMIM:617710 |
Kikuchi-Fujimoto Disease |
|
Palpebral edema, Myocarditis, Thrombocytopenia, Vasculitis, Splenomegaly, Erythema, Leukopenia, V... |
ORPHA:50918 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Lymphedema, Atrioventricular block, Nephropathy... |
ORPHA:324 |
Osteopetrosis, Autosomal Recessive 1 |
|
Splenomegaly, Thrombocytopenia, Pancytopenia, Anemia |
OMIM:259700 |
W Syndrome |
|
Hypoplasia of the ulna, Radial bowing, Depressed nasal bridge, Broad nasal tip, Elbow dislocation... |
ORPHA:2804 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Clinodactyly, Retrognathia, Arachnodactyly |
OMIM:619092 |
Axial Osteomalacia |
|
Myopathy, Renal cyst |
OMIM:109130 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Mandibular prognathia, Short metacarpal, Hypoplastic sacrum, Rhizomelia, Diabetes mellitus, Brach... |
OMIM:614813 |
Phelan-Mcdermid Syndrome |
|
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Bulbous nose, Dental malocclus... |
OMIM:606232 |
Cardiofaciocutaneous Syndrome |
|
Depressed nasal bridge, Anteverted nares, Abnormal heart valve morphology, Redundant skin, Abnorm... |
ORPHA:1340 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Hypoplasia of the zygomatic bone, Malar flattening, Short nose, Depressed nasal bridge |
ORPHA:2835 |
Say Syndrome |
|
Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
Tbck-Related Intellectual Disability Syndrome |
|
Mandibular prognathia, 11 pairs of ribs, Broad toe, Hyperthyroidism, Ventricular septal defect, D... |
ORPHA:488632 |
Hajdu-Cheney Syndrome |
|
Micrognathia, Absent frontal sinuses, Partial absence of toe, Anteverted nares, Patent ductus art... |
ORPHA:955 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Bicuspid aortic valve, Asplenia, Calcaneovalgus deformity, Abnormality of ... |
ORPHA:261552 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Mandibular prognathia, Short nose, Macroorchidism |
OMIM:300143 |
Meckel Syndrome, Type 1 |
|
Adrenal hypoplasia, Micrognathia, Asplenia, Accessory spleen, Syndactyly, Cryptorchidism, Patent ... |
OMIM:249000 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Abnormal lung lobation, Narrow greater sciatic notch, Short palm, Atrial s... |
OMIM:312870 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Death in infancy, Tricuspid regurgitation, Splenomegaly, Cut... |
OMIM:300972 |
Trisomy 10P |
|
Absent gallbladder, Thumb contracture, Depressed nasal bridge, Anteverted nares, Abnormality of t... |
ORPHA:171929 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Morning glory anomaly, Chorioretinal atrophy, Retina... |
OMIM:612109 |
Diaphanospondylodysostosis |
|
Multiple renal cysts |
ORPHA:66637 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Sandal gap, Prominent nose, Micrognathia, Bulbous nose, Depressed nasal ri... |
OMIM:156200 |
Absent Eyebrows And Eyelashes With Mental Retardation |
|
Short nose, Convex nasal ridge |
OMIM:200130 |
Cog4-Cdg |
|
Thrombocytopenia, Hepatosplenomegaly |
ORPHA:263501 |
Oslam Syndrome |
|
Anemia |
OMIM:165660 |
Toluene Embryopathy |
|
Tapered finger, Micrognathia, Cryptorchidism, Hypoplasia of the zygomatic bone, Short nose |
ORPHA:1920 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... |
ORPHA:79240 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Depressed nasal bridge, Sandal gap, Tapered finger, Bulbous nose, Clinodactyly of the 5th finger,... |
OMIM:618430 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Depressed nasal bridge, Abnormal dental enamel morphology, Supernumerary nipple, Sandal gap, Cryp... |
ORPHA:1812 |
Hypomelanosis Of Ito |
|
Syndactyly, Clinodactyly, Hand polydactyly, Radial deviation of finger |
OMIM:300337 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... |
ORPHA:264580 |
Spondyloepiphyseal Dysplasia Congenita |
|
Retinal detachment, Vitreoretinopathy |
OMIM:183900 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Redundant neck skin, Ventricular septal defect, Anteverted nares, Adrenal hypoplasia, Micrognathi... |
OMIM:214100 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Excessive wrinkled skin, Congestive heart failure, Venous insufficiency, Arteriovenous malformation |
ORPHA:137608 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Cryptorchidism, Hypoalbuminemia, Hypoca... |
OMIM:618183 |
Overlap Myositis |
|
Abnormality of the kidney, Raynaud phenomenon, Hypertension, Leukopenia, Pulmonary arterial hyper... |
ORPHA:206572 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Periorbital edema, Splenomegaly, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:617591 |
Leukodystrophy, Hypomyelinating, 10 |
|
Anteverted nares, Arachnodactyly, Bulbous nose, Malar flattening, Short nose |
OMIM:616420 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Intraventricular hemorrhage, Methylmalonic aciduria, Skin rash, Unilateral renal agenesis |
ORPHA:79284 |
5Q14.3 Microdeletion Syndrome |
|
Short nose, Toe syndactyly, Anteverted nares |
ORPHA:228384 |
20Q11.2 Microduplication Syndrome |
|
Depressed nasal bridge, Anteverted nares, Cryptorchidism, Wide nasal bridge, Short foot, Deep pal... |
ORPHA:363659 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Broad hallux, Sandal gap, Persistence of primary teeth, Clinodactyly, Dental malocclusion, Wide n... |
OMIM:618727 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Polycystic ovaries, Cardiomyopathy, Abnormal circulating lipi... |
ORPHA:79086 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Anteverted nares, Bulbous nose, Transposition of the great arteries, T... |
ORPHA:1780 |
Peho Syndrome |
|
Short nose, Retrognathia, Tapered finger |
OMIM:260565 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neutropenia, Agra... |
OMIM:301078 |
Opitz-Kaveggia Syndrome |
|
Syndactyly, Broad hallux, Choanal atresia, Facial wrinkling, Micrognathia, Prominent nose, Crypto... |
OMIM:305450 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Anosmia, Bifid nose, Hyposmia, Clinodactyly, Decreased testicular ... |
OMIM:614838 |
Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Hyperoxaluria, Optic atrophy, Renal cyst, Rod-cone dystrophy |
OMIM:601539 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Psoriasiform lesion, Chronic neutropenia, Autoimmune t... |
OMIM:614700 |
Fibromuscular Dysplasia, Multifocal |
|
Tortuous cerebral arteries, Carotid artery tortuosity, Striae distensae, Micrognathia, Vertebral ... |
OMIM:619329 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Hepatomegaly, Renal cyst, Death in infancy |
OMIM:614862 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Elevated urinary dopamine level, Dehydration, Anemia, Sync... |
ORPHA:230 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Overlapping toe, Increased mean platelet volume, Proximal placement of thumb, Abnormality of the ... |
ORPHA:487796 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Micrognathia, Tapered finger, Wide nasal bridge, Hypoplasia of teeth, Short nose, Retrognathia |
OMIM:620250 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Congenital hip dislocation, Clinodactyly of the 5th finger, Atrial septal ... |
ORPHA:373 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Cerebral hemorrhage |
OMIM:301081 |
Axial Mesodermal Dysplasia Spectrum |
|
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst,... |
ORPHA:1834 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Miscarriage, Thrombocytopenia |
ORPHA:96181 |
Fg Syndrome 5 |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:300581 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Atrial sep... |
OMIM:614207 |
Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Recurrent respiratory infections, Anteverted nares, Depressed nasal bridge, De... |
OMIM:616835 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Decreased heart rate variability, Cryptorchidism, Death in ch... |
OMIM:619005 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Bicuspid aortic valve, Asplenia, Calcaneovalgus deformity, Abnormality of ... |
ORPHA:261537 |
Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Intestinal lympha... |
ORPHA:90362 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Poor wound healing, Unilateral renal agenesis, Vesicoureteral reflux, Bruising susceptibility, St... |
OMIM:606408 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... |
OMIM:145001 |
Down Syndrome |
|
Brachydactyly, Depressed nasal bridge, Prematurely aged appearance, Sandal gap, Abnormality of th... |
ORPHA:870 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Orchitis, Recurrent pharyngitis, Leukocytosis, Vasculitis, Erythema, Splenomegaly, ... |
ORPHA:32960 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hallux valgus, Recurrent respiratory infections, Pancytopenia, Choanal atresia, Hashimoto thyroid... |
OMIM:613385 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Micrognathia, Cryptorchidism, Short sternum,... |
OMIM:257300 |
Holocarboxylase Synthetase Deficiency |
|
Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, 3-hydroxyisovaleric aciduria, T... |
OMIM:253270 |
Neuroleptic Malignant Syndrome |
|
Tachycardia, Proteinuria, Urinary incontinence, Pulmonary embolism, Thrombocytopenia, Myoglobinur... |
ORPHA:94093 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Clinodactyly, Cryptorchidism, Single transverse palmar crease, Prominent nasal bridge |
ORPHA:178148 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose, Arachnodactyly, Micrognathia |
ORPHA:1129 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Hypoplastic left heart |
OMIM:618829 |
Kaposi Sarcoma |
|
Venous insufficiency, Abnormality of the spleen, Lymphedema |
ORPHA:33276 |
Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Short nose, Multiple palmar creases |
OMIM:611936 |
Coats Disease |
|
Exudative retinal detachment, Retinal telangiectasia |
OMIM:300216 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Depressed nasal bridge, Anteverted nares, Single transverse palmar crease, Broad hallux, Bulbous ... |
OMIM:614105 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Death in infancy, Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney disease, Ren... |
OMIM:208500 |
Trisomy 18 |
|
Microretrognathia, Ventricular septal defect, Choanal atresia, Camptodactyly of finger, Cryptorch... |
ORPHA:3380 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Anteverted nares, Decreased response to growth hormone stimulation tes... |
ORPHA:444077 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia |
ORPHA:169090 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Congenital hip dislocation, Depressed nasal bri... |
OMIM:268400 |
Cardiofaciocutaneous Syndrome 1 |
|
Hyperextensibility of the finger joints, Depressed nasal bridge, Anteverted nares, Micrognathia, ... |
OMIM:115150 |
Sandifer Syndrome |
|
Hematemesis, Anemia |
ORPHA:71272 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Urinary incontinence, Cardiomegaly, Amyloid deposition in the vitreous humor, Stroke-like episode... |
OMIM:105210 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Increased density of long bones, Single transverse palmar crease... |
OMIM:269150 |
Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Single transverse palmar crea... |
OMIM:272950 |
Fanconi Anemia, Complementation Group R |
|
Pelvic kidney, Anemia |
OMIM:617244 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Anteverted nares, Polydactyly, Complete duplication of thum... |
ORPHA:59315 |
Isolated Klippel-Feil Syndrome |
|
Abnormal shoulder morphology, Ventricular septal defect |
ORPHA:2345 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Depressed nasal bridge, Micrognathia, Recurrent lower respiratory tract infections, ... |
OMIM:617802 |
Joubert Syndrome 1 |
|
Optic disc pallor, Retinal dystrophy, Optic disc coloboma, Renal cyst, Macroglossia, Retinal dysp... |
OMIM:213300 |
Arima Syndrome |
|
Hepatomegaly, Retinal dystrophy, Proteinuria, Polyuria, Optic atrophy, Stage 5 chronic kidney dis... |
OMIM:243910 |
Antley-Bixler Syndrome |
|
Anteverted nares, Choanal atresia, Arachnodactyly, Camptodactyly of finger, Femoral bowing, Narro... |
ORPHA:83 |
Goldberg-Shprintzen Syndrome |
|
Ventricular septal defect, Prominent nasal bridge, Tapered finger, Hypoplasia of the maxilla, Bul... |
OMIM:609460 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Toe syndactyly, Mitral atresia, Pulmonary artery stenosis, Bulbous nose, Hypoplasia of the radius... |
ORPHA:140952 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Epispadias, Abnormal penis morphology, Multicystic kidney dysplasia, Hyp... |
ORPHA:2461 |
Yellow Fever |
|
Abnormal bleeding, Shock, Renal insufficiency, Anuria, Neutrophilia, Supraventricular arrhythmia,... |
ORPHA:99829 |
Meige Disease |
|
Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Periorbital edem... |
ORPHA:90186 |
16Q24.3 Microdeletion Syndrome |
|
Cryptorchidism, Dilated cardiomyopathy, Mitral regurgitation, Increased mean corpuscular volume, ... |
ORPHA:261250 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Hemosiderinuria, Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemi... |
OMIM:105600 |
Meckel Syndrome, Type 10 |
|
Micropenis, Hypospadias, Renal cyst, Camptodactyly |
OMIM:614175 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Tapered finger, Hip dysplasia, Finger joint hypermobility, Metacarpophalange... |
ORPHA:544503 |
Nablus Mask-Like Facial Syndrome |
|
Depressed nasal bridge, Anteverted nares, Short hallux, Single transverse palmar crease, Hypoplas... |
OMIM:608156 |
Holoprosencephaly |
|
Abnormality of the spleen, Depressed nasal ridge, Absent nares, Aplasia/Hypoplasia involving the ... |
ORPHA:2162 |
Geleophysic Dysplasia 2 |
|
Mitral stenosis, Tricuspid stenosis, Mitral valve prolapse, Short foot, Cone-shaped epiphysis, Ao... |
OMIM:614185 |
Fanconi Anemia, Complementation Group P |
|
Pancytopenia, Cryptorchidism, Horseshoe kidney, Pelvic kidney, Anemia |
OMIM:613951 |
Orofaciodigital Syndrome I |
|
Microretrognathia, Syndactyly, Underdeveloped nasal alae, Carious teeth, Pancreatic cysts, Supern... |
OMIM:311200 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Portal hypertension, Splenomegaly, Jaundice, Generalized aminoaciduria, Ascites, Thrombocytopenia |
OMIM:251880 |
Bone Marrow Failure Syndrome 5 |
|
Anemia, Erythroid hypoplasia, Testicular atrophy, Pure red cell aplasia |
OMIM:618165 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge,... |
ORPHA:306542 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h... |
OMIM:239850 |
Bartsocas-Papas Syndrome 1 |
|
Syndactyly, Short metacarpal, Hypoplastic scapulae, Underdeveloped nasal alae, Hypoplasia of the ... |
OMIM:263650 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Mandibular prognathia, Prominent nasal bridge, Prominent nose, Tapered finger, Camptodactyly, Cli... |
OMIM:619576 |
Opitz Gbbb Syndrome |
|
Natal tooth, Enlarged ovaries, Anteverted nares, Ventricular septal defect, Micrognathia, Cryptor... |
ORPHA:2745 |
X-Linked Ehlers-Danlos Syndrome |
|
Bruising susceptibility |
ORPHA:75497 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Abnormal heart morphology, Polyc... |
ORPHA:2237 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Testicular atrophy, Thrombocytopenia |
OMIM:613987 |
Diaphanospondylodysostosis |
|
Depressed nasal bridge, Micrognathia, Missing ribs, Depressed nasal ridge, Narrow pelvis bone, Ha... |
OMIM:608022 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose |
ORPHA:833 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Thrombocytopenia |
ORPHA:3240 |
Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Congenital diaphr... |
ORPHA:887 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Single transverse palmar crease, Micrognathia, Concave nasal ridge, Hy... |
ORPHA:73272 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Micrognathia, Proximal placement of thumb, Phocomeli... |
OMIM:122470 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Micrognathia, Cryptorch... |
ORPHA:2879 |
Spondylocarpotarsal Synostosis Syndrome |
|
Carpal synostosis, Epiphyseal dysplasia, Short metacarpal, Scapular winging, Anteverted nares, Bo... |
OMIM:272460 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Urinary incontinence, Acanthocytosis |
OMIM:234200 |
Dyskeratosis Congenita |
|
Telangiectasia of the skin, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Urethral ... |
ORPHA:1775 |
Mulchandani-Bhoj-Conlin Syndrome |
|
Clinodactyly, Retrognathia, 2-3 toe syndactyly |
OMIM:617352 |
Mosaic Trisomy 20 |
|
Ventricular septal defect, Down-sloping shoulders, Micrognathia, Cryptorchidism, Clinodactyly, Dy... |
ORPHA:1724 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Limb undergrowth, Single transverse palmar crease, Ventricular septal defect, Recurrent aspiratio... |
ORPHA:79243 |
Fanconi Anemia, Complementation Group N |
|
Short thumb, Aplastic anemia, Ventricular septal defect |
OMIM:610832 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Cryptorchidism, Ventricular septal defect |
OMIM:618504 |
Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,... |
ORPHA:93260 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Phocomelia, Split hand, Aplasia of the thymus, Foot polydactyly |
ORPHA:3004 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Scapular winging, Down-sloping shoulders, Tapered finger, Carious teeth, Denta... |
OMIM:615560 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Mandibular prognathia, Microretrognathia, Toe syndactyly, Ventricular septal defect, Wide nasal r... |
ORPHA:459070 |
Osteogenesis Imperfecta |
|
Abnormality of dental color, Convex nasal ridge, Micromelia, Micrognathia, Abnormal tibia morphol... |
ORPHA:666 |
Spondyloepiphyseal Dysplasia Congenita |
|
Retinal detachment |
ORPHA:94068 |
Smith-Kingsmore Syndrome |
|
Rhizomelia, Depressed nasal bridge, Short proximal phalanx of finger, Cryptorchidism, Deep palmar... |
OMIM:616638 |
Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Paranasal sinus hypoplasia, Ventricular septal defect, Arachnodactyly, Micrognathia,... |
OMIM:300373 |
Perlman Syndrome |
|
Depressed nasal bridge, Micrognathia, Cryptorchidism, Wide nasal bridge, Pancreatic islet-cell hy... |
OMIM:267000 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Optic disc pallor, Multiple joint contractures, Ventricular septal defect, ... |
ORPHA:464306 |
Ring Chromosome 12 Syndrome |
|
Syndactyly, Secundum atrial septal defect, Cryptorchidism, Abnormal 5th finger morphology, Sympha... |
ORPHA:1439 |
Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Hypoparathyroidism, Micromelia, Adducted thumb, Abnormal circulating calcium-ph... |
ORPHA:50810 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Cryptorchidism, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:77298 |
Pterygium Colli, Isolated |
|
Short nose |
OMIM:177990 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Facial hypotonia, Transient ischemic attack, Glycogen accumulation in muscle fiber ... |
ORPHA:365 |
Cebalid Syndrome |
|
Anteverted nares, Short nose, Depressed nasal ridge, Depressed nasal bridge |
OMIM:618774 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Splenomegaly, Jaundice, Red urine, Cutaneous photosensitivity, Pink urine, Thro... |
OMIM:263700 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Pulmonic stenosis, Atrial septal... |
OMIM:615102 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ventricular septal defect, Anteverted nares, Single transverse palmar crease, Recurrent pneumonia... |
OMIM:616449 |
Congenital Disorder Of Glycosylation, Type If |
|
Death in infancy, Flexion contracture, Optic atrophy, Renal cortical cysts |
OMIM:609180 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Abnor... |
ORPHA:2075 |
Pontocerebellar Hypoplasia, Type 8 |
|
Patent foramen ovale, Ventricular septal defect, Anteverted nares, Talipes equinovarus |
OMIM:614961 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Cryptorchidism, Persiste... |
OMIM:617052 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Dextrocardia, Congenital diaphragmatic hernia, Abnormal heart morph... |
ORPHA:261197 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Congestive heart failure, Leukocytosis, Dilated cardiomyopathy, Splenomegaly, Neonatal omphalitis... |
OMIM:615895 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Ventricular septal defect, Depressed nasal bridge, Cryptorchidism, Bulbous... |
OMIM:619103 |
Milroy Disease |
|
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hydrocele testis, Varicose veins, A... |
ORPHA:79452 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Ventricular septal defect, Abnormal dental enamel m... |
ORPHA:1071 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micrognathia, Abnormal lung lobation, Atrial septal defect, Advanced... |
ORPHA:818 |
Beemer-Ertbruggen Syndrome |
|
Cryptorchidism, Thrombocytopenia |
ORPHA:1237 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Choanal atresia, Cryptorchidism, Anosmia, Ectrodactyly, Delayed pu... |
OMIM:147950 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Single transverse palmar crease, Long nose, Clinodactyly of the 5th finger, Atrial septal defect,... |
OMIM:619522 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Increased urinary glycerol, Pallor |
ORPHA:348 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia |
ORPHA:329249 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... |
ORPHA:158048 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Ventricular septal defect, Short columella, Anteverted nares |
OMIM:615879 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Ventricular septal defect, Single interphalangeal crease of fifth fi... |
OMIM:257920 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Pulmonary artery sling, Supernumerary nippl... |
OMIM:235730 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Congenital hip dislocation, Anteverted nares, Redundant skin, Carious teeth, Cutis laxa, Excessiv... |
OMIM:219200 |
Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level |
ORPHA:2457 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Ventricular septal defect, Prominent nasal bridge, Underdeveloped nasal alae, Micrognathia, Aplas... |
OMIM:608670 |
Adiposis Dolorosa |
|
Xerostomia, Bruising susceptibility, Telangiectasia of the skin, Dry skin |
ORPHA:36397 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
7Q11.23 Microduplication Syndrome |
|
Ventricular septal defect, Cutis marmorata, Single transverse palmar crease, Broad nasal tip, Mic... |
ORPHA:96121 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... |
OMIM:615745 |
Homozygous Familial Hypercholesterolemia |
|
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... |
ORPHA:391665 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal right ventri... |
ORPHA:500095 |
Fanconi Anemia |
|
Leukopenia, Hypospadias, Cryptorchidism, Patent ductus arteriosus, Azoospermia, Abnormal carotid ... |
ORPHA:84 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Nephrogenic diabetes insipidus, Jaundice, Hip dysplasia, Right ventric... |
OMIM:613404 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Sandal gap, Tapered finger, Small hand, Short foot, Clinodactyly |
OMIM:618089 |
Hajdu-Cheney Syndrome |
|
Wide nose, Ventricular septal defect, Anteverted nares, Micrognathia, Absent frontal sinuses, Cry... |
OMIM:102500 |
Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Hypertension, Arrhythmia, Ascites, Anemia |
ORPHA:139411 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Bulbous nose, Wide nasal bridge, Short nose |
OMIM:620292 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Broad hallux, Anteverted nares, Postaxial polydactyly, Hypoplastic aortic arch, Hip dysplasia, Cl... |
ORPHA:457284 |
Hermansky-Pudlak Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Renal insufficiency, Epistaxis, Abnormality of th... |
ORPHA:79430 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Mandibular prognathia, Ventricular septal defect, Prominent nasal bridge, Proximal placement of t... |
OMIM:212066 |
Tetrasomy 9P |
|
Micrognathia, Clinodactyly of the 5th finger, Patent foramen ovale, Amelogenesis imperfecta, Bila... |
ORPHA:3310 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Patent ductus arteriosus, Renal cyst, Coarctation of aorta, Mitral stenosis, Renal dysplasia |
OMIM:617260 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Underdeveloped nasal alae, Cryptorchidism, Wide... |
ORPHA:453499 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Labial pseudohypertr... |
OMIM:151660 |
Alveolar Echinococcosis |
|
Abnormal pericardium morphology, Portal hypertension, Abnormal bladder morphology, Pancreatic cys... |
ORPHA:284 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Prominent nasal bridge, Polydactyly, Clinodactyly, Brachydactyly |
ORPHA:313781 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Death in infancy, Decreased heart rate variability, Polyhydra... |
OMIM:619004 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Hydroureter, Neoplasm of the heart, Cryptorchidis... |
ORPHA:2241 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Diabetes mellitus, Prominent nasal bridge, Broad nasal tip, Long nose, Cryptorchidism, Dilated ca... |
OMIM:616541 |
Arthrogryposis, Distal, Type 5 |
|
Arachnodactyly, Decreased palmar creases, Limited wrist extension, Absent phalangeal crease, Bila... |
OMIM:108145 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Mandibular prognathia, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdev... |
OMIM:300912 |
Distal Deletion 19P |
|
Long toe, Ventricular septal defect, Arachnodactyly, Hypoplasia of the maxilla, Tricuspid valve p... |
ORPHA:96129 |
Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Leukocytosis, Dilated cardiomyopathy, Pyoderma gangrenosum,... |
ORPHA:3243 |
Blau Syndrome |
|
Clear cell renal cell carcinoma, Pericarditis, Splenomegaly, Erythema, Xerostomia, Stage 5 chroni... |
ORPHA:90340 |
Craniofacial-Deafness-Hand Syndrome |
|
Ulnar deviation of the hand, Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Mal... |
OMIM:122880 |
Myopathy With Extrapyramidal Signs |
|
Leukocytosis, Splenomegaly, Ventricular septal defect, Anteverted nares |
OMIM:615673 |
Juvenile Xanthogranuloma |
|
Hyphema |
ORPHA:158000 |
Joubert Syndrome 2 |
|
Renal insufficiency, Retinal dystrophy, Optic disc coloboma, Renal cyst, Chorioretinal coloboma, ... |
OMIM:608091 |
Dubowitz Syndrome |
|
Hypospadias, Cutis marmorata, Abnormality of neutrophils, Thrombocytopenia, Cryptorchidism, Acute... |
ORPHA:235 |
Peutz-Jeghers Syndrome |
|
Gastrointestinal hemorrhage, Enlarged polycystic ovaries, Abnormality of the ureter, Renal cell c... |
ORPHA:2869 |
Hermansky-Pudlak Syndrome 2 |
|
Prolonged bleeding time, Absent platelet dense granules, Splenomegaly, Impaired ADP-induced plate... |
OMIM:608233 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Polycy... |
ORPHA:280365 |
Lysinuric Protein Intolerance |
|
Abnormal bleeding, Proteinuria, Glomerulonephritis, Ornithinuria, Thrombocytopenia, Argininuria, ... |
ORPHA:470 |
Exercise-Induced Malignant Hyperthermia |
|
Abnormal bleeding, Prolonged QT interval, Sinus tachycardia, Oliguria, Dry skin, ST segment depre... |
ORPHA:466650 |
Hardikar Syndrome |
|
Premature rupture of membranes, Vesicoureteral reflux, Bladder exstrophy, Portal hypertension, Pa... |
OMIM:301068 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Micrognathia, Cardiomega... |
ORPHA:96191 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Renal insufficiency, Recurrent urinary tract infections, Portal hype... |
ORPHA:731 |
3Q29 Microduplication Syndrome |
|
Toe syndactyly, Ventricular septal defect, Sandal gap, Wide nasal bridge, Camptodactyly of toe |
ORPHA:251038 |
Spondyloepiphyseal Dysplasia Tarda |
|
Retinal detachment |
ORPHA:93284 |
Charge Syndrome |
|
Aortic arch aneurysm, Delayed eruption of teeth, Depressed nasal bridge, Choanal atresia, Hypogon... |
ORPHA:138 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Chor... |
ORPHA:50 |
Childhood Absence Epilepsy |
|
Pallor, Urinary incontinence |
ORPHA:64280 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Recurrent respiratory infections, Overlapping toe, Tapered finger, Long fi... |
OMIM:618371 |
Von Willebrand Disease |
|
Venous insufficiency, Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Recurrent respiratory infections, Short humerus, Short femur, Patent ductus arteriosus, Coarctati... |
ORPHA:17 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Splenomegaly, Jaundice, Hemoglobinuria, Normochromic anemia, Nonspherocytic he... |
OMIM:611881 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Diastasis recti, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Nephrolithia... |
OMIM:130650 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Prominent nose, Clinodactyly of the 5th finger, Short ... |
OMIM:268305 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Patent ductus arteriosus, Hypercalciuria, Renal cyst, Abnormal heart morphology, Nephrocalcinosis... |
ORPHA:369837 |
Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent... |
ORPHA:261476 |
Odontochondrodysplasia 1 |
|
Death in infancy, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Sp... |
ORPHA:565 |
Caroli Syndrome |
|
Abnormal bleeding, Abnormality of the kidney, Portal hypertension, Hematemesis, Hypersplenism, Le... |
ORPHA:480520 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Micropenis, Tricuspid regurgitation, Hydrops fetalis, Polycystic kidney dysplasia |
OMIM:263520 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia/aplasia, Vesico... |
ORPHA:107 |
Neurocardiofaciodigital Syndrome |
|
Syndactyly, Patent ductus arteriosus, Retrognathia, Double inlet left ventricle, Polydactyly, Atr... |
OMIM:619869 |
Cranioectodermal Dysplasia 1 |
|
Recurrent respiratory infections, Short humerus, Brachydactyly, Bicuspid aortic valve, Anteverted... |
OMIM:218330 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Anteverted nares, Prominent nasal bridge, Single transverse palmar crease,... |
ORPHA:1449 |
Monosomy 22 |
|
Finger syndactyly, Wide nose, Aplasia of the thymus, Single transverse palmar crease, Clubbing, H... |
ORPHA:96123 |
Fetal Hydantoin Syndrome |
|
Cryptorchidism, Depressed nasal ridge, Triphalangeal thumb, Short nose, Short distal phalanx of f... |
ORPHA:1912 |
Van Maldergem Syndrome 2 |
|
Short fourth metatarsal, Ulnar deviation of the hand, Depressed nasal bridge, Micrognathia, Hypop... |
OMIM:615546 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Ventricular septal defect, Micrognathia, Situs inversus totalis, Bulbous n... |
OMIM:309500 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Clinodactyly |
OMIM:619091 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, Pineal cyst, Short 4th toe, Prominent fing... |
OMIM:615873 |
Amoebiasis Due To Entamoeba Histolytica |
|
Congestive heart failure, Leukocytosis, Pleural empyema, Constrictive pericarditis, Pleural effus... |
ORPHA:67 |
Trigonocephaly 1 |
|
Short nose, Wide nasal bridge |
OMIM:190440 |
Dermotrichic Syndrome |
|
Short nose, Depressed nasal bridge, Anemia |
ORPHA:99688 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Werner Syndrome |
|
Hypertriglyceridemia, Hypogonadism, Elevated hemoglobin A1c |
OMIM:277700 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Bowing of the long bones, Depressed nasal bridge, Choanal atr... |
OMIM:259775 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Renal dysplasia, Hepatomegaly, Ureteral duplication, Retinal dystrophy, Pancreatic cysts, Stage 5... |
OMIM:266920 |
Superficial Siderosis |
|
Abnormal bleeding, Subarachnoid hemorrhage, Functional abnormality of the bladder, Abnormal verte... |
ORPHA:247245 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Renal salt wasting, Hypersplenism, Precocious atherosclerosis, Jaundice, ... |
ORPHA:275761 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Thrombocytopenia, Cryptorchidism... |
OMIM:620005 |
Fraser Syndrome 2 |
|
Wide nose, Hypoplasia of the thymus, Cutaneous syndactyly, Underdeveloped nasal alae |
OMIM:617666 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Hyperlipidemia |
ORPHA:369 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Depr... |
OMIM:180700 |
Pitt-Hopkins Syndrome |
|
Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease... |
OMIM:610954 |
Acute Liver Failure |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Skin rash, Cerebral edema, Intracranial he... |
ORPHA:90062 |
Smith-Lemli-Opitz Syndrome |
|
Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Abnormal lun... |
OMIM:270400 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Tibial bowing, Shoulder dislocation, Short phalanx of finger, Bilateral single transverse palmar ... |
OMIM:143095 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Hypertriglyceridemia, Abnormal circulating creatine kinase concentration, Cardiomyo... |
ORPHA:98907 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Hypophosphatemia |
ORPHA:2088 |
Copper Deficiency, Familial Benign |
|
Anemia |
OMIM:121270 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Ulnar deviation of the hand, Short foot, Hammertoe, Camptodactyly, Clinodactyly, Brachydactyly |
OMIM:275900 |
Mody |
|
Abnormality of the kidney, Renal cyst, Glycosuria, Nephropathy, Retinopathy |
ORPHA:552 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Recurr... |
OMIM:602450 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Hepatomegaly, Prolonged prothrombin time, Renal cyst |
ORPHA:79303 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Prominent nasal bridge, Underdeveloped nasal alae, Aplasia of the distal phalanx of the 5th toe, ... |
ORPHA:364577 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Redundant skin, Spontaneous neonatal pneumothorax, Micrognathia, Short toe, Gingival bleeding, Re... |
OMIM:225410 |
Distal 22Q11.2 Microduplication Syndrome |
|
Mandibular prognathia, Wide nose, Toe syndactyly, Ventricular septal defect, Camptodactyly of fin... |
ORPHA:261337 |
Congenital Myopathy 22B, Severe Fetal |
|
Decreased fetal movement, Nonimmune hydrops fetalis, Polyhydramnios, Breech presentation, Pleural... |
OMIM:620369 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, Metatarsus adductus... |
OMIM:227330 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Rod-cone dystrophy, Cystic renal dysplasia, Hydroureter |
OMIM:615989 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Narrow nasal bridge, Hallux valgus, Ventricular septal defect, Left ventricular noncompaction car... |
OMIM:300967 |
Ivic Syndrome |
|
Leukocytosis, Arrhythmia, Thrombocytopenia |
ORPHA:2307 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Micropenis, Polyhydramnios, Hydrops fetalis, Polycystic kidney dysplasia |
OMIM:616546 |
Phace Syndrome |
|
Cerebral arteriovenous malformation, Coarctation of aorta, Abnormal heart morphology, Aortic root... |
ORPHA:42775 |
Den Hoed-De Boer-Voisin Syndrome |
|
Delayed eruption of teeth, Ventricular septal defect, Sandal gap, Carious teeth, Small hand, 2-3 ... |
OMIM:619229 |
Alpha-2-Plasmin Inhibitor Deficiency |
|
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax |
OMIM:262850 |
Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Micrognathia, Short nose, Facial telangiectasia |
OMIM:615851 |
Tetrasomy 18P |
|
Large hands, Short nose |
ORPHA:3307 |
Tay-Sachs Disease |
|
Cherry red spot of the macula, Pallor |
OMIM:272800 |
Gapo Syndrome |
|
Prominent scalp veins, Depressed nasal bridge, Anteverted nares, Redundant skin, Micrognathia, Re... |
OMIM:230740 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:613327 |
Knobloch Syndrome 2 |
|
Retinal detachment, Patent ductus arteriosus, Vitreoretinopathy, Vitreous floaters |
OMIM:618458 |
Ayme-Gripp Syndrome |
|
Mandibular prognathia, Pericarditis, Depressed nasal bridge, Tapered finger, Wide nasal bridge, R... |
OMIM:601088 |
Yunis-Varon Syndrome |
|
Redundant neck skin, Congenital hip dislocation, Single transverse palmar crease, Micrognathia, S... |
OMIM:216340 |
Nestor-Guillermo Progeria Syndrome |
|
Left atrial enlargement, Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary... |
OMIM:614008 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... |
OMIM:242700 |
Cornelia De Lange Syndrome |
|
Micromelia, Micrognathia, Proximal placement of thumb, Atrial septal defect, Clinodactyly of the ... |
ORPHA:199 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Aplasia of the 3rd m... |
OMIM:181450 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... |
OMIM:137920 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Renal agenesis, Congenital diaphragmatic hernia, Ectopic kidney, Unilateral ... |
OMIM:617641 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic a... |
ORPHA:2396 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Ventricular septal defect, Tarsal synostosis, Elbow flexion contracture, Cutaneo... |
OMIM:178110 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect, Depressed nasal bridge |
OMIM:618325 |
Aymé-Gripp Syndrome |
|
Pericarditis, Depressed nasal bridge, Rocker bottom foot, Tapered finger, Pericardial effusion, C... |
ORPHA:1272 |
Zimmermann-Laband Syndrome 1 |
|
Aortic arch aneurysm, Mandibular prognathia, Delayed eruption of teeth, Hyperextensibility of the... |
OMIM:135500 |
Restrictive Dermopathy |
|
Natal tooth, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia of the clavicles, Dextroca... |
ORPHA:1662 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Ventricular septal defect, Wide nasal bridge, Depressed nasal tip, Dry skin |
OMIM:619306 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Neutropenia |
OMIM:308230 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Mandibular prognathia, Prominent nasal bridge, Supernumerary nipple, Micrognathia, Bulbous nose, ... |
ORPHA:247262 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Depressed nasal bridge, Talipes equinovarus, Advanced eruption of teeth, Short nose, Broad columella |
OMIM:617865 |
Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Short humerus, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, S... |
ORPHA:959 |
Okamoto Syndrome |
|
Redundant neck skin, Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Underde... |
ORPHA:2729 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
Cortical Dysplasia, Complex, With Other Brain Malformations 12 |
|
Cryptorchidism, Clinodactyly, Wide nasal bridge |
OMIM:620316 |
Gomez-Lopez-Hernandez Syndrome |
|
Malar flattening, Short nose, Anteverted nares, Decreased response to growth hormone stimulation ... |
OMIM:601853 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Right atrial enlargement, Pulmonary arterial hypertension, Tricuspid regurgitation, Mitral valve ... |
OMIM:620233 |
Hyperparathyroidism, Neonatal Severe |
|
Hyperphosphaturia, Polyuria, Splenomegaly, Hypercalciuria, Aminoaciduria, Anemia |
OMIM:239200 |
Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Portal hypertension, Splenomegal... |
ORPHA:1454 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Retinal hamartoma, Optic atr... |
ORPHA:538 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microretrognathia, Multiple pulmonary cysts, Accessory spleen, Ventricular septal defect, Depress... |
OMIM:619418 |
Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Underdeveloped nasal alae, Wide nasal bridge, Premature graying of hair, S... |
ORPHA:894 |
Vater/Vacterl Association |
|
Syndactyly, Abnormal nasopharynx morphology, Ventricular septal defect, Choanal atresia, Absent r... |
OMIM:192350 |
19P13.13 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Sandal gap, Long fingers, Malar flattening, Clinodactyl... |
ORPHA:357001 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Short nose, Anteverted nares |
ORPHA:884 |
Cyclic Neutropenia |
|
Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia |
ORPHA:2686 |
Orofaciodigital Syndrome Type 5 |
|
Ectopic accessory finger-like appendage, Supernumerary tooth, Postaxial hand polydactyly, Postaxi... |
ORPHA:2919 |
Mogs-Cdg |
|
Generalized edema, Polyhydramnios, Edema, Hepatosplenomegaly, Hydrocele testis, Thrombocytopenia,... |
ORPHA:79330 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Membranoproliferative glomerulonephritis, Microscopic hematuria, Microcytic anemia, Thrombocytope... |
OMIM:619525 |
Cone-Rod Dystrophy 8 |
|
Retinal arteriolar constriction, Pallor |
OMIM:605549 |
Carey-Fineman-Ziter Syndrome |
|
Anteverted nares, Micrognathia, Aplasia of the pectoralis major muscle, Ulnar deviation of finger... |
ORPHA:1358 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu... |
ORPHA:79404 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Decreased muscle mass, Portal hypertension, Cardiomegaly, Congestive heart failure,... |
ORPHA:465508 |
Prader-Willi Syndrome |
|
Decreased response to growth hormone stimulation test, Short palm, Syndactyly, Hypogonadotropic h... |
OMIM:176270 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Recurrent respiratory infections, Anteverted nares, Micrognathia, Cryptorchidism, Patent ductus a... |
ORPHA:2282 |
Osteopetrosis, Autosomal Recessive 3 |
|
Distal renal tubular acidosis, Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly |
OMIM:259730 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Decreased fetal movement, Hypospadias, Hydrops fetalis, Cryptorchidism |
OMIM:265000 |
Niemann-Pick Disease Type C |
|
Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Hydrops fetalis, Hepatosplenomegal... |
ORPHA:646 |
Frontofacionasal Dysplasia |
|
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, Dimple on nasal ... |
ORPHA:1791 |
Cogan Syndrome |
|
Aortic regurgitation, Leukocytosis, Vasculitis, Large vessel vasculitis, Thrombocytosis, Anemia |
ORPHA:1467 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Prominent superficial veins, Arachnodactyly, Poor wound healing, Gingival bleeding, Palmoplantar ... |
OMIM:130080 |
Familial Chylomicronemia Syndrome |
|
Hyperlipidemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Hepatosple... |
ORPHA:444490 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Papilledema, Abnormality of retinal pigmentation, Renal lymphocytic tubulitis, Choroidal neovascu... |
ORPHA:91500 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Syndactyly, Narrow joint spaces of the elbow, Decreased response to growth hormone stimulation te... |
ORPHA:96182 |
Orofaciodigital Syndrome Type 4 |
|
Micromelia, Micrognathia, Depressed nasal ridge, Aplasia/Hypoplasia of the tibia, Genu varum, Fin... |
ORPHA:2753 |
2P15P16.1 Microdeletion Syndrome |
|
Aortic regurgitation, Decreased testicular size, Multicystic kidney dysplasia, Optic nerve hypopl... |
ORPHA:261349 |
Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Depressed nasal bridge, Rocker bottom foot, Tapered finger, Cryptorchidism, Finger clinodactyly, ... |
OMIM:601353 |
Warburg Micro Syndrome 3 |
|
Clinodactyly of the 5th finger, Short nose, Decreased testicular size, Micrognathia |
OMIM:614222 |
Alternating Hemiplegia Of Childhood |
|
Cardiac conduction abnormality, Dehydration, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhythmia,... |
ORPHA:2131 |
Proteus Syndrome |
|
Abnormality of retinal pigmentation, Decreased muscle mass, Sudden cardiac death, Pulmonary embol... |
ORPHA:744 |
Chromosome 13Q14 Deletion Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Supernumerary nipple, Micrognathia, O... |
OMIM:613884 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Limb Body Wall Complex |
|
Duplication of hand bones, Depressed nasal bridge, Choanal atresia, Ventricular septal defect, Ap... |
ORPHA:2369 |
Beck-Fahrner Syndrome |
|
Hip dysplasia, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Ohdo Syndrome, X-Linked |
|
Ulnar deviation of the hand, Depressed nasal bridge, Overlapping toe, Micrognathia, Prominent nos... |
OMIM:300895 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Premature graying of hair, Early onset of sexual maturation, Atrial septal... |
OMIM:194050 |
Aicardi Syndrome |
|
Retinal detachment, Chorioretinal lacunae, Optic disc coloboma, Optic atrophy |
OMIM:304050 |
Trichohepatoneurodevelopmental Syndrome |
|
Ventricular septal defect, Overlapping toe, Splenomegaly, Patent ductus arteriosus, Bulbous nose,... |
OMIM:618268 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Atrial... |
OMIM:304120 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Coronary artery fistula, Atr... |
OMIM:620024 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... |
ORPHA:363958 |
Blepharocheilodontic Syndrome 1 |
|
Clinodactyly, Choanal atresia, Cutaneous syndactyly |
OMIM:119580 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Short nose, Micrognathia |
OMIM:256600 |
Branchiootorenal Syndrome 1 |
|
Renal malrotation, Facial palsy, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dy... |
OMIM:113650 |
Van Maldergem Syndrome 1 |
|
Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Dental malocclusion, Wide nasal... |
OMIM:601390 |
Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Elevated urinary catecholamine level, Elevated urinary norep... |
ORPHA:653 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Recurrent respiratory infections, Short nose, Dental malocclusion, Micrognathia |
ORPHA:329178 |
Nelson Syndrome |
|
Intracranial hemorrhage, Hypertension, Increased urinary cortisol level |
ORPHA:199244 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Prominent nasal bridge, Micrognathia, Ectodermal dysplasia, Radial deviation of finger, Malar fla... |
OMIM:609944 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Plethora, Dorsocervical fat pad, Nephrolithiasis, Hypertension,... |
ORPHA:189427 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Recurrent respiratory infections, Hypoparathyroidism, Thyroid hemiagenesis, V... |
ORPHA:209905 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... |
OMIM:615980 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Triphalangeal thumb, Atrial septal defect, Hypothyroidism, 2-4 finger syndactyl... |
OMIM:107480 |
Zttk Syndrome |
|
Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, Depressed nasal bridge, ... |
OMIM:617140 |
Genitopatellar Syndrome |
|
Hip contracture, Multicystic kidney dysplasia, Cryptorchidism, Knee flexion contracture, Atrial s... |
ORPHA:85201 |
Trichohepatoenteric Syndrome 1 |
|
Wide nose, Anteverted nares, Ventricular septal defect, Increased mean platelet volume, Avascular... |
OMIM:222470 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Bulbous nose, Depressed nasal bridge, Short nose |
ORPHA:261144 |
Multiple Myeloma |
|
Splenomegaly, Abnormality of the bladder, Nephrotic syndrome, Nephropathy, Pleural effusion, Acut... |
ORPHA:29073 |
Immunodeficiency 40 |
|
T lymphocytopenia, Thrombocytopenia |
OMIM:616433 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Decreased fetal movement, Tricuspid regurgitation, Polyhydramnios, Patent ductus arteriosus, Cuti... |
OMIM:614557 |
Whim Syndrome |
|
Lymphopenia, Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Lymphadenitis, Recur... |
ORPHA:51636 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Primary hyperaldosteronism, Left ventricula... |
OMIM:615474 |
Warburg Micro Syndrome 2 |
|
Overlapping toe, Prominent nasal bridge, Cryptorchidism, Short nose, Clinodactyly of the 4th toe,... |
OMIM:614225 |
Dpagt1-Cdg |
|
Prolonged QT interval, Decreased fetal movement, Fetal akinesia sequence, Stroke-like episode, In... |
ORPHA:86309 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Recurrent urinary tract infections, Autoimmune hemolytic anemia, T l... |
OMIM:251260 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Wide nose, Short metacarpal, Ante... |
OMIM:303600 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Tetraphocomelia, Atrial septal defect, Phocomelia, Wrist flexion contracture, Hyper... |
OMIM:268300 |
Osteogenesis Imperfecta, Type Xvi |
|
Microretrognathia, Prolonged bleeding time, Angulated humerus, Bowing of the long bones, Rhizomel... |
OMIM:616229 |
Fetal Akinesia Deformation Sequence 1 |
|
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... |
OMIM:208150 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Secundum atrial septal defect, Bilateral cryptorchidism, Atrial septal def... |
OMIM:616268 |
Oculocerebrorenal Syndrome Of Lowe |
|
Glomerulopathy, Renal insufficiency, Death in infancy, Proteinuria, Skin ulcer, Cryptorchidism, P... |
ORPHA:534 |
Autosomal Dominant Robinow Syndrome |
|
Micromelia, Micrognathia, Coxa vara, Short palm, Clinodactyly of the 5th finger, Finger syndactyl... |
ORPHA:3107 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Splenomegaly, Labial hypertrophy, Ve... |
OMIM:269700 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:254534 |
Stickler Syndrome |
|
Skeletal muscle atrophy, Retinal detachment, Abnormal vitreous humor morphology, Mitral valve pro... |
ORPHA:828 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Acute leukemia, Pollakisuria, Cutaneous photosensi... |
ORPHA:647 |
Cerebrocostomandibular Syndrome |
|
11 pairs of ribs, 10 pairs of ribs, Short humerus, Congenital hip dislocation, Ventricular septal... |
OMIM:117650 |
Trisomy 20P |
|
Finger syndactyly, Anteverted nares, Camptodactyly of finger, Micrognathia, Cryptorchidism, Preax... |
ORPHA:261318 |
Lymphedema-Distichiasis Syndrome |
|
Varicose veins, Patent ductus arteriosus, Diabetes mellitus, Abnormality of the pulmonary vascula... |
ORPHA:33001 |
Medulloblastoma |
|
Cerebellar hemorrhage |
ORPHA:616 |
Fryns Syndrome |
|
Microretrognathia, Prominent fingertip pads, Ectopic pancreatic tissue, Ventricular septal defect... |
OMIM:229850 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent respiratory infections, Ventricular septal defect, Depressed nasal bridge, Hematochezia... |
OMIM:619575 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... |
OMIM:231005 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Hip contracture, Wide nose, Congenital hip dislocation, Ventricular se... |
OMIM:606170 |
Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Ventricular septal defect, Broad hallux, Deviation of the hallux, Bilateral cr... |
ORPHA:434179 |
X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose |
ORPHA:85277 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia, Arachnodactyly, Micrognathia, Talipes equinovarus, Chylothorax |
OMIM:619036 |
Atelosteogenesis Type I |
|
Multiple renal cysts, Retinal dysplasia |
ORPHA:1190 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Ventricular septal defect, Overlapping toe, Cerebral hemorrhage, Precocious puberty, Cryptorchidi... |
OMIM:616682 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Flexion contracture... |
ORPHA:581 |
Joubert Syndrome 21 |
|
Splenomegaly, Optic atrophy, Megalopapilla, Renal cyst, Hyperechogenic kidneys, Retinopathy |
OMIM:615636 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Anteverted nares, Choanal atresia, Ventricular septal defect, Micrognathia, Cryptorch... |
OMIM:616975 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Narrow nasal bridge, Hallux valgus, Ventricular septal defect, Prominent nasal bridge, Anterior p... |
ORPHA:466791 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Metatarsus adductus, Small hand, Scapular muscle atrophy, Hip dysplasia, Talipe... |
OMIM:181405 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Cubitus valgus, Slender long bone, Short nose, Anteverted nares |
ORPHA:1185 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Hypertension, Bruising susceptibility, Dorsocervical fat pad, Fragile skin |
OMIM:615830 |
Pontocerebellar Hypoplasia, Type 10 |
|
Underdeveloped nasal alae, Tapered finger, Cryptorchidism, Bulbous nose, Wide nasal bridge, Short... |
OMIM:615803 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Limb hypertonia, Tricuspid regurgitation, Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
Diets-Jongmans Syndrome |
|
Ventricular septal defect, Broad nasal tip, Cryptorchidism, Interrupted inferior vena cava with a... |
OMIM:618846 |
Meckel Syndrome, Type 5 |
|
Renal cyst |
OMIM:611561 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia |
OMIM:607361 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, Micrognathia... |
ORPHA:1974 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose |
ORPHA:289266 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Intracranial hemorrhage |
ORPHA:91350 |
Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Clinodactyly,... |
OMIM:613406 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Short nose, Micrognathia |
OMIM:266810 |
Peho Syndrome |
|
Recurrent respiratory infections, Anteverted nares, Tapered finger, Malar flattening, Short nose |
ORPHA:2836 |
Sarcoidosis |
|
Hemolytic anemia, Renal insufficiency, Abnormal cardiac ventricular function, Eosinophilia, Porta... |
ORPHA:797 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short nose, Hypogonadism, Genu valgum |
ORPHA:2983 |
Bohring-Opitz Syndrome |
|
Retinal atrophy, Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Optic atrop... |
ORPHA:97297 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Hypertension, Bruising susceptibility, Striae distensae |
OMIM:610489 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Hyper... |
OMIM:613159 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Rocker bottom foot, Mic... |
ORPHA:521426 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Hypospadias, Phimosis, Thrombocytopenia, Cryptorchidism, Ur... |
OMIM:305000 |
Congenital Myopathy 17 |
|
Mandibular prognathia, Overlapping toe, Tapered finger, Respiratory tract infection, Dental maloc... |
OMIM:618975 |
Aicardi-Goutières Syndrome |
|
Cutis marmorata, Neonatal alloimmune thrombocytopenia, Raynaud phenomenon, Calcification of the a... |
ORPHA:51 |
Hutchinson-Gilford Progeria Syndrome |
|
Aortic regurgitation, Mitral stenosis, Angina pectoris, Myocardial infarction, Transient ischemic... |
ORPHA:740 |
Kabuki Syndrome 1 |
|
Hemolytic anemia, Prominent fingertip pads, Congenital hip dislocation, Ventricular septal defect... |
OMIM:147920 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Single transverse palmar crease, Rocker bottom foot, Micrognathia, Postaxial polydactyly, Long fi... |
OMIM:617527 |
Meier-Gorlin Syndrome 5 |
|
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Elbow dislocation, Patellar aplasia, Irr... |
OMIM:613805 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Hypertension, Bruising susceptibility, Striae distensae |
OMIM:219080 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Diastasis recti, Cardiomegaly, Congestive heart failure, Sple... |
OMIM:252500 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Mucopolysacchariduria, Cardiomegaly |
ORPHA:349 |
Occipital Horn Syndrome |
|
Venous insufficiency, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the ... |
ORPHA:198 |
Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Septo-optic dysplasia, Optic atrophy, Cryptorchidism |
ORPHA:3301 |
Micro Syndrome |
|
Anteverted nares, Micrognathia, Cryptorchidism, Wide nasal bridge, Delayed puberty, Short nose |
ORPHA:2510 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Ventricular septal defect, Sandal gap, Broad nasal tip, Long fingers, Recu... |
OMIM:620330 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Labial hypertrophy, Polycystic ovaries, Cardiom... |
OMIM:608594 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Bicuspid aortic valve, Asplenia, Calcaneovalgus deformity, Broad columella... |
ORPHA:2152 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Bladder diverticulum, Bruising susceptibility, Fragile skin, Breech presentation |
OMIM:617821 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Autoimmune hemolytic anemia, Sinusitis, Severe B lymphocytopenia, Pne... |
OMIM:102700 |
Cadds |
|
Short nose, Adrenal hypoplasia, Micrognathia |
ORPHA:369942 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Broad nasal tip, Underdev... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Broad nasal tip, Underdev... |
ORPHA:352665 |
Hydranencephaly |
|
Abnormal internal carotid artery morphology, Dilatation of the ventricular cavity, Antenatal intr... |
ORPHA:2177 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Nephroblastoma, Renal hypoplasia, Venous malformation |
OMIM:612918 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Hypertension, Bruising susceptibility, Striae distensae |
OMIM:610475 |
Osteogenesis Imperfecta, Type Xvii |
|
Intraventricular hemorrhage |
OMIM:616507 |
Penile Agenesis |
|
Urethral atresia, male, Ventricular septal defect, Hydroureter, Cryptorchidism, Fetal pyelectasis... |
ORPHA:49 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
Schinzel-Giedion Syndrome |
|
Micrognathia, Tibial bowing, Choanal stenosis, Myeloid leukemia, Streak ovary, Overlapping finger... |
ORPHA:798 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis |
ORPHA:73246 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Hermansky-Pudlak Syndrome 8 |
|
Epistaxis, Excessive bleeding after a venipuncture, Menorrhagia, Gingival bleeding, Excessive ble... |
OMIM:614077 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Subdural hemorrhage |
OMIM:619714 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Depressed nasal ridge, Abnormal lung lobation, Atrial septal defect, Clino... |
OMIM:607872 |
Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Ectopia cordis, Pulmonary hypoplasia, Transposition of the great arteries |
OMIM:313850 |
Immunodeficiency 96 |
|
Conjunctival telangiectasia, Multicystic kidney dysplasia |
OMIM:619774 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Unilateral renal atrophy, Cryptorchidism, Pyelonephritis, Oligozoospermia, Varicose veins, Nephri... |
OMIM:314300 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Anemia |
ORPHA:44890 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Ventricular septal defect, Anteverted nares, Broad ischia, Wide nasal brid... |
OMIM:619727 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Splenomegaly, Hyperproteinemia, Increased circulating renin level, Hyperuri... |
ORPHA:90041 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Renal cyst, Polycystic kidney ... |
OMIM:610199 |
Coffin-Siris Syndrome 1 |
|
Single transverse palmar crease, Prominent interphalangeal joints, Atrial septal defect, Prominen... |
OMIM:135900 |
1P36 Deletion Syndrome |
|
Aortic arch aneurysm, Hypoplasia of penis, Abnormal heart valve morphology, Camptodactyly of fing... |
ORPHA:1606 |
Choreoacanthocytosis |
|
Abnormal erythrocyte enzyme level, Splenomegaly, Dilated cardiomyopathy, Acanthocytosis |
ORPHA:2388 |
Juvenile Polyposis Syndrome |
|
Hematochezia, Anemia |
OMIM:174900 |
Epidermal Nevus Syndrome |
|
Weakness of long finger extensor muscles, Polycystic kidney dysplasia, Rhabdomyosarcoma, Aortic a... |
ORPHA:35125 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Ventricular septal defect, Micrognathia, Cryptorchidism, Malar flattening |
ORPHA:2789 |
Trichothiodystrophy |
|
Ventricular septal defect, Prematurely aged appearance, Hypoplasia of mandible relative to maxill... |
ORPHA:33364 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
Mpdu1-Cdg |
|
Optic atrophy, Renal cortical cysts |
ORPHA:79323 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cardiomyopathy, Thrombocytopenia |
ORPHA:572798 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Multicystic kidney dysplasia, Rhabdomyosarcoma, Coarctation of aorta, Abnor... |
ORPHA:1052 |
Meckel Syndrome, Type 2 |
|
Renal cyst |
OMIM:603194 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ventricular septal defect, Pneumonia, Pericardial effusion, Jaundice, Dilated cardiomyopathy, Atr... |
ORPHA:26793 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Orthostatic hypotension due to autonomic dysfunction, Chronic kidney disease, Dry skin, Syncope, ... |
ORPHA:642 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Equinus calcaneus, 2-3 toe syndactyly, Bilateral talipes equinovarus, Atrial septal defect, Promi... |
ORPHA:522077 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Leiomyosarcoma, Vesicoureter... |
ORPHA:116 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Thrombocytopenia |
OMIM:224230 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal heart valve... |
ORPHA:77293 |
Wiedemann-Steiner Syndrome |
|
Aplasia/Hypoplasia of the ribs, Rhizomelia, Decreased response to growth hormone stimulation test... |
ORPHA:319182 |
Arachnoid Cyst |
|
Urinary bladder sphincter dysfunction, Urinary incontinence, Subarachnoid hemorrhage |
ORPHA:2356 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t... |
OMIM:614748 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Short nose, Anteverted nares, Cutis marmorata |
OMIM:613735 |
Liver Disease, Severe Congenital |
|
Dermal translucency, Recurrent urinary tract infections, Hypospadias, Splenomegaly, Jaundice, Pat... |
OMIM:619991 |
Cholestasis-Lymphedema Syndrome |
|
Splenomegaly, Hepatomegaly, Hyperlipidemia |
ORPHA:1414 |
Acrocephalopolydactylous Dysplasia |
|
Pancreatic fibrosis, Micromelia, Postaxial hand polydactyly, Pulmonary hypoplasia, Polysplenia, E... |
OMIM:200995 |
Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Abnormal aortic morphology, Nephroblastoma, Congenital diaphragmati... |
ORPHA:1001 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Stillbirth |
OMIM:616300 |
Costello Syndrome |
|
Hyperextensibility of the finger joints, Redundant neck skin, Depressed nasal bridge, Anteverted ... |
OMIM:218040 |
Harrod Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Hypospadias |
ORPHA:2115 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... |
OMIM:614527 |
Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Hypertension, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst, Reti... |
OMIM:193300 |
Myopathy, Mitochondrial, And Ataxia |
|
Pallor |
OMIM:617675 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short metacarpal, Redundant neck skin, Depressed nasal bridge, Anteverted nares, Brachydactyly, B... |
OMIM:617157 |
Trichothiodystrophy 1, Photosensitive |
|
Retrognathia, Telangiectasia, Cutaneous photosensitivity, Hypogonadism, Short nose, Dry skin |
OMIM:601675 |
Dend Syndrome |
|
Clinodactyly of the 4th finger, Short nose, Anteverted nares, Elevated hemoglobin A1c |
ORPHA:79134 |
Joubert Syndrome 5 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Retin... |
OMIM:610188 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Brachyolmia Type 3 |
|
Clinodactyly, Proximal femoral metaphyseal irregularity, Short femoral neck, Radial deviation of ... |
OMIM:113500 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Telangiectasia of the skin, Abnormal cerebral vascular morphology, Hydrocele testis, Nephroblasto... |
ORPHA:276280 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Depressed nasal bridge, Long nose, Slender long bone, Malar flattening, Short nose |
OMIM:618590 |
Lipodystrophy, Familial Partial, Type 7 |
|
Reduced subcutaneous adipose tissue, Decreased adipose tissue around neck, Spontaneous pneumothor... |
OMIM:606721 |
Prolactinoma |
|
Pallor, Hypotension |
ORPHA:2965 |
Microgastria-Limb Reduction Defect Syndrome |
|
Congenital muscular torticollis, Multicystic kidney dysplasia, Hepatomegaly, Crossed fused renal ... |
ORPHA:2538 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Bruising susceptibility, Bleeding requiring red cell transfusion |
OMIM:619484 |
Unilateral Polymicrogyria |
|
Cyanosis, Epistaxis, Pulmonary arteriovenous malformation, Abnormal heart morphology, Stroke |
ORPHA:268943 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Camptodactyly... |
ORPHA:158687 |
Jaberi-Elahi Syndrome |
|
Hand clenching, Short nose, Depressed nasal bridge, Talipes equinovarus |
OMIM:617988 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Lacrimoauriculodentodigital Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Abnormal dental enam... |
ORPHA:2363 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Urinary incontinence, Vascular granular osmiophilic material deposition, Lacunar stroke, Varicose... |
OMIM:125310 |
Meckel Syndrome, Type 6 |
|
Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney |
OMIM:612284 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Progeroid facial appearance, Microcytic anemia, Splenomegaly, Congestive heart failure, Erythema,... |
OMIM:256040 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Ovarian fibroma, Palmar pits, Cardiac fibroma, Polydactyly, Short nose |
ORPHA:77301 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Testicular neoplasm, Shortened QT interval, Nephrolithiasis... |
ORPHA:99880 |
Norrie Disease |
|
Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A... |
ORPHA:649 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Intraventricular hemorrhage, Telangiectasia, Enuresis nocturna |
ORPHA:420741 |
Xylt1-Cdg |
|
Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Short clavicles, Clinodactyly... |
ORPHA:370930 |
Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax... |
ORPHA:2929 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Ventricular septal defect, Broad hallux, Micrognathia, Cryptorchi... |
OMIM:615948 |
Osteogenesis Imperfecta, Type Vii |
|
Crumpled long bones, Rhizomelia, Protrusio acetabuli, Micromelia, Hypoplastic pulmonary veins, Bo... |
OMIM:610682 |
Cog8-Cdg |
|
Spontaneous hematomas, Prolonged prothrombin time |
ORPHA:95428 |
Eisenmenger Syndrome |
|
Abnormal bleeding, Cyanosis, Ventricular septal defect, Patent ductus arteriosus, Clubbing, Hypoc... |
ORPHA:97214 |
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Prominent nasal bridge, Micrognathia, Broad nasal tip, Wide nasal bridge, Short nose |
OMIM:300749 |
Cantú Syndrome |
|
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... |
ORPHA:91347 |
Menke-Hennekam Syndrome 1 |
|
Narrow nasal bridge, Anteverted nares, Depressed nasal bridge, Broad hallux, Underdeveloped nasal... |
OMIM:618332 |
Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Testicular neoplasm, Shortened QT interval, Nephrolithiasis... |
ORPHA:143 |
Vascular Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, Redundant skin, Internal hemorrhage, Abnormal bleeding, Peripheral ar... |
ORPHA:286 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Depressed nasal bridge, Overlapping toe, Micrognathia, Broad nasal tip, Cryptorchidism, Bulbous n... |
OMIM:309590 |
Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Hypertriglyceridemia, Pineal cyst, Cardiomyopathy, Abnormal circulating creatine ki... |
ORPHA:98908 |
Occipital Horn Syndrome |
|
Short humerus, Redundant skin, Pelvic bone exostoses, Coxa valga, Capitate-hamate fusion, Genu va... |
OMIM:304150 |
Foix-Alajouanine Syndrome |
|
Neurogenic bladder, Urinary incontinence, Functional abnormality of the bladder, Urinary retentio... |
ORPHA:79093 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Thrombocytopenia |
ORPHA:457351 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Bowing of the ... |
OMIM:112250 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Cryptorchidism, Short femur, Ventricular septal defect, Genu valgum |
OMIM:617798 |
Opitz Gbbb Syndrome |
|
Abnormal nasopharynx morphology, Ventricular septal defect, Anteverted nares, Cryptorchidism, Wid... |
OMIM:300000 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis |
ORPHA:1297 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, H... |
ORPHA:93111 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Ventricular septal defect |
ORPHA:1393 |
Distal Deletion 9P |
|
Short nose, Wide nasal bridge, Brachydactyly |
ORPHA:1642 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent nipple, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, Apla... |
OMIM:305100 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Avascular necrosis of the capital femoral epiphysis, Abnormal circulating osteocalcin level, Genu... |
ORPHA:93315 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Renal cyst |
OMIM:617100 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... |
OMIM:245600 |
Glycerol Kinase Deficiency |
|
Cryptorchidism, Hypertriglyceridemia, Hyperglycerolemia |
OMIM:307030 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Anteverted nares, Bicuspid aortic valve, Ventricular septal defect, Single transverse palmar crea... |
OMIM:619475 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Secundum atrial septal defect, Metaphyseal widening, Subarterial ventricular septal defect, Metap... |
ORPHA:99646 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Decreased proportion of naive T cells, Pneumonia, Aplasia of the thymus, Thyroiditis, ... |
ORPHA:83471 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Pancytopenia, Choanal atresia, Hypersplenism, Neutropenia in presence of anti-neutropil antibodie... |
ORPHA:228426 |
Attenuated Familial Adenomatous Polyposis |
|
Multiple renal cysts, Congenital hypertrophy of retinal pigment epithelium |
ORPHA:220460 |
Renal Agenesis |
|
Talipes equinovarus, Ventricular septal defect, Pulmonary hypoplasia |
ORPHA:411709 |
D-Bifunctional Protein Deficiency |
|
Splenomegaly, Hepatomegaly, Decreased muscle mass, Renal cyst |
OMIM:261515 |
Tetraamelia Syndrome 1 |
|
Choanal atresia, Micrognathia, Asplenia, Single naris, Peripheral pulmonary vessel aplasia, Pulmo... |
OMIM:273395 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Depressed nasal bridge, Anteverted nares, Arachnodactyly, Abnormal thumb morphology, Cryptorchidi... |
ORPHA:2719 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Single transverse palmar crease, Ventricular septal hypertrophy, Small... |
OMIM:614947 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Abnormal vena cava morphology, Prominent veins on trunk |
ORPHA:97289 |
Monosomy 9P |
|
Depressed nasal bridge, Anteverted nares, Choanal atresia, Micrognathia, Proximal placement of th... |
ORPHA:261112 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Camptodactyly of 2nd-5... |
OMIM:601803 |
Roberts Syndrome |
|
Premature birth, Polyhydramnios, Cryptorchidism, Long penis, Polycystic kidney dysplasia, Thrombo... |
ORPHA:3103 |
Thymic Carcinoma |
|
Abnormal vena cava morphology, Palpebral edema, Edema |
ORPHA:99868 |
Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Micrognathia, Atrial septal defect, Accessory spleen, Pseudoepip... |
OMIM:194190 |
Methylcobalamin Deficiency Type Cble |
|
Syndactyly, Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Neutropenia, Clin... |
ORPHA:2169 |
Acute Transverse Myelitis |
|
Orthostatic hypotension, Urinary incontinence, Subarachnoid hemorrhage, Hypertension, Urinary ret... |
ORPHA:139417 |
Loeys-Dietz Syndrome 6 |
|
Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dilatation of the cerebral a... |
OMIM:619656 |
Meckel Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Abnormal chorioretinal morphology, Situs inve... |
ORPHA:564 |
Insulin-Resistance Syndrome Type B |
|
Proteinuria, Leukopenia, Glycosuria, Nephritis, Thrombocytopenia |
ORPHA:2298 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Renal cyst |
ORPHA:480536 |
Distal Deletion 12Q |
|
Unilateral cryptorchidism, Ectopic kidney, Patent ductus arteriosus, Elbow flexion contracture, C... |
ORPHA:96149 |
Thoracic Outlet Syndrome |
|
Varicose veins, Edema |
ORPHA:97330 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Unilateral lung agenesis, Depressed nasal bridge, Transient ischemic attack, ... |
ORPHA:500150 |
17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Uret... |
ORPHA:261265 |
Fibular Hemimelia |
|
Renal dysplasia, Thrombocytopenia |
ORPHA:93323 |
Microphthalmia, Syndromic 3 |
|
Ventricular septal defect, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Missing ... |
OMIM:206900 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Decreased testicular size, Multicystic kidney dysplasia, Optic nerve dysplasia, Retinal dysplasia... |
OMIM:615287 |
C Syndrome |
|
Toe syndactyly, Depressed nasal bridge, Anteverted nares, Redundant skin, Micrognathia, Micromeli... |
ORPHA:1308 |
Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, Ventricular septal defect, Choanal atresia, Proboscis, Abnorma... |
ORPHA:141099 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia |
OMIM:617866 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormal pulmonary valve morphology, Ureth... |
ORPHA:857 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia |
ORPHA:3015 |
Carney Complex |
|
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma... |
ORPHA:1359 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Renal insufficiency, Retinal dystrophy, Hypospadias, Subretinal deposits, Renal cortical cysts, A... |
ORPHA:397715 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Abnormality of the hand, Prominent nose, Abnormal thumb morphology, Abnormal hand morphology, Gen... |
ORPHA:101000 |
Cerebrooculonasal Syndrome |
|
Anteverted nares, Prominent nasal bridge, Proboscis, Postaxial polydactyly, Postaxial hand polyda... |
OMIM:605627 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Small hypothenar eminence, Hypoplasia of the musculature, Thenar muscle atrophy, Cardiomegaly, Mu... |
ORPHA:2463 |
Early Infantile Epileptic Encephalopathy |
|
Ventricular septal defect, Depressed nasal bridge, Anteverted nares, Precocious puberty, Short fi... |
ORPHA:1934 |
Isolated Anencephaly |
|
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
Adenylosuccinase Deficiency |
|
Short nose, Anteverted nares |
OMIM:103050 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Biliary hyperplasia, Abnormal circulat... |
ORPHA:567983 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Splenomegaly, Ascites, Thrombocytopenia |
OMIM:301072 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Cryptorchidism, Macroglossia, Arthrogryp... |
OMIM:618143 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormality of the endocrine system, Precocious... |
ORPHA:438213 |
Meningioma |
|
Syncope, Urinary incontinence, Cerebral hemorrhage |
ORPHA:2495 |
Peters-Plus Syndrome |
|
Bilobate gallbladder, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, L... |
OMIM:261540 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Palpebral edema, Facial edema, Xerostomia, Tubulointerstitial nephritis, Thrombocytopenia |
ORPHA:79078 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Crypto... |
ORPHA:91 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney |
OMIM:613091 |
White-Kernohan Syndrome |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Hip dysplasia, Short nose, R... |
OMIM:619426 |
Autosomal Dominant Spastic Paraplegia Type 10 |
|
Urinary urgency, Varicose veins, Spastic/hyperactive bladder |
ORPHA:100991 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Ventricular septal defect, Micrognathia, Abnormal tibia morphology, Abnormal heart mor... |
ORPHA:363700 |
Hyperlysinemia |
|
Pulmonary artery hypoplasia, Recurrent pneumonia, Depressed nasal ridge |
ORPHA:2203 |
Liposarcoma |
|
Varicose veins, Abnormality of the kidney |
ORPHA:69078 |
Caroli Disease |
|
Splenomegaly, Hepatomegaly, Polycystic kidney dysplasia, Portal hypertension |
ORPHA:53035 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia |
ORPHA:2089 |
Brittle Cornea Syndrome 2 |
|
Bruising susceptibility |
OMIM:614170 |
Toriello-Lacassie-Droste Syndrome |
|
Short nose, Anteverted nares, Brachydactyly, Short palm |
ORPHA:3339 |
Enlarged Parietal Foramina |
|
Abnormal cerebral vein morphology, Venous malformation |
ORPHA:60015 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... |
OMIM:600740 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Renal dysplasia, Death in infancy, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Uni... |
OMIM:308205 |
Aspartylglucosaminuria |
|
Mandibular prognathia, Recurrent respiratory infections, Abnormal morphology of ulna, Carious tee... |
ORPHA:93 |
Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Pancreatic cysts, Hypertension, H... |
ORPHA:2750 |
Holoprosencephaly 7 |
|
Hypoplasia of the premaxilla, Flat nasal alae, Absent nasal septal cartilage, Wide nasal bridge, ... |
OMIM:610828 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Renal hypoplasia, Renal cyst, Hydrop... |
ORPHA:93271 |
15q26 overgrowth syndrome |
|
Renal agenesis, Camptodactyly of finger, Abnormality of the kidney, Horseshoe kidney, Duplication... |
DECIPHER:81 |
Tick-Borne Encephalitis |
|
Leukopenia, Leukocytosis, Thrombocytopenia |
ORPHA:297 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Hallux valgus, Depressed nasal bridg... |
OMIM:614188 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Ventricular septal defect, Cryptorchidism, Deep palmar crease, Pulmonic stenosis, Atrial septal d... |
OMIM:607721 |
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Varicose veins, Venous malformation, Lymphedema |
OMIM:613089 |
Glomuvenous Malformation |
|
Abnormal renal morphology, Gastrointestinal arteriovenous malformation, Arteriovenous malformatio... |
ORPHA:83454 |
Acrorenal-Mandibular Syndrome |
|
Renal agenesis, Congenital diaphragmatic hernia, Abnormality of the ureter, Elbow flexion contrac... |
OMIM:200980 |
Familial Multiple Lipomatosis |
|
Hyperlipidemia, Abnormal tricuspid valve morphology |
ORPHA:199276 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Cryptorchidism, Hypospadias, Optic nerve hypoplasia, Renal cyst |
ORPHA:495875 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, A... |
ORPHA:565612 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimula... |
ORPHA:3455 |
Sotos Syndrome |
|
No permanent dentition, Atrial septal defect, Hypothyroidism, Flushing, Cryptorchidism, Patent du... |
ORPHA:821 |
Cerebrofaciothoracic Dysplasia |
|
Wide nose, Short nose |
ORPHA:1394 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Tapered finger, Triangular nasal tip, Cry... |
OMIM:309580 |
Leigh Syndrome |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Anemia, Neutropenia |
ORPHA:506 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Syndactyly, Aplasia of the nasal bone, Streak ovary, Micrognathia, Cryptorchidism, Short nose |
OMIM:618820 |
1P21.3 Microdeletion Syndrome |
|
Short nose, Micrognathia, Broad nasal tip |
ORPHA:293948 |
Frontofacionasal Dysplasia |
|
Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Malar flattening, Short nose, ... |
OMIM:229400 |
Clapo Syndrome |
|
Varicose veins, Venous malformation, Lymphedema |
ORPHA:168984 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Cryptorchidism, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephrosis |
OMIM:236700 |
Johanson-Blizzard Syndrome |
|
Diabetes mellitus, Ventricular septal defect, Single transverse palmar crease, Underdeveloped nas... |
OMIM:243800 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cryptorchidism, Short nose, Depressed nasal bridge, Convex nasal ridge |
OMIM:300661 |
Pmm2-Cdg |
|
Pericarditis, Angina pectoris, Proteinuria, Lymphedema, Pericardial effusion, Intracranial hemorr... |
ORPHA:79318 |
Peroxisome Biogenesis Disorder 4B |
|
Short nose, Adrenal insufficiency, Single transverse palmar crease |
OMIM:614863 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Vesicoureteral reflux, Diastasis recti, Renal cortical cysts |
OMIM:618548 |
Woodhouse-Sakati Syndrome |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... |
OMIM:241080 |
3Mc Syndrome 3 |
|
Cryptorchidism, Clinodactyly, Preaxial polydactyly, Radioulnar synostosis |
OMIM:248340 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... |
ORPHA:3464 |
Branchiooculofacial Syndrome |
|
Hypospadias, Facial palsy, Renal agenesis, Cryptorchidism, Elbow flexion contracture, Renal cyst,... |
OMIM:113620 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, S... |
OMIM:182250 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Short nose |
OMIM:252160 |
Varicose Veins |
|
Varicose veins |
OMIM:192200 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Short nose |
OMIM:252150 |
Osteoporosis-Pseudoglioma Syndrome |
|
Metaphyseal widening, Ventricular septal defect, Tibial bowing |
OMIM:259770 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Decreased testicular size, Leukocytosis, Genu valgum, Hypoplasia of the ovary, Short nose, Convex... |
OMIM:619321 |
Fraser Syndrome |
|
Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism,... |
ORPHA:2052 |
Periventricular Nodular Heterotopia 9 |
|
Single transverse palmar crease, Tapered finger, Clinodactyly of the 5th finger, Prominent finger... |
OMIM:618918 |
6Q Terminal Deletion Syndrome |
|
Hallux valgus, Aplasia/Hypoplasia of the ribs, Clinodactyly, Micrognathia |
ORPHA:75857 |
Microphthalmia, Syndromic 1 |
|
Syndactyly, Bicuspid aortic valve, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Crypt... |
OMIM:309800 |
Alström Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Precocious puberty in females, Decreased response to growth h... |
ORPHA:64 |
Hypermobile Ehlers-Danlos Syndrome |
|
Venous insufficiency, Cystocele, Ascending tubular aorta aneurysm, Arterial dissection, Arrhythmi... |
ORPHA:285 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Cryptorchidism, Renal hypoplasia, Polycystic kidney dysplasia |
ORPHA:3404 |
Kosaki Overgrowth Syndrome |
|
Fragile skin, Depressed nasal bridge, Wide nasal bridge |
OMIM:616592 |
Infantile Myofibromatosis |
|
Abnormality of the kidney, Skin ulcer |
ORPHA:2591 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Basal Ganglia Calcification, Idiopathic, 4 |
|
|
OMIM:615007 |
Myofibromatosis, Infantile, 1 |
|
|
OMIM:228550 |