Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
Hypomagnesemia 6, Renal |
|
Hypomagnesemia |
OMIM:613882 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Hypomagnesemia |
OMIM:616418 |
Azotemia, Familial |
|
Azotemia |
OMIM:109160 |
Cardiomyopathy, Dilated, 2D |
|
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... |
OMIM:619371 |
Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Proximal muscle weakness in lower limbs, Death in childhood, Respiratory in... |
OMIM:253300 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Systolic heart murmur, Ventricular septal defect, Pedal edema, Ho... |
ORPHA:99095 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Stroke, Muscular ventricular septal defect, Sudden cardiac death, Right bun... |
OMIM:115197 |
Familial Isolated Restrictive Cardiomyopathy |
|
Supraventricular arrhythmia, Right atrial enlargement, Pulmonary venous hypertension, Pulmonary e... |
ORPHA:75249 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Edema |
OMIM:613267 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... |
ORPHA:439 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Myocardial fibrosis, Left ventricular noncompaction cardiomyopathy, Right atrial enlargement, Myo... |
OMIM:619424 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Tricuspid ... |
ORPHA:555874 |
Atrial Septal Defect, Ostium Primum Type |
|
Airway obstruction, Systolic heart murmur, Left atrial enlargement, Right bundle branch block, At... |
ORPHA:99106 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
Lipedema |
|
Edema |
OMIM:614103 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus |
OMIM:616622 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Chronic lung disease, Cough, Dextrocardia, Rhinorrhea, Bronchiecta... |
OMIM:618254 |
Cirrhotic Cardiomyopathy |
|
Fourth heart sound, Right atrial enlargement, Pulmonary edema, Left ventricular hypertrophy, Left... |
ORPHA:57777 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... |
OMIM:613424 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Left anterior fascicular block, Permanent atrial fibrillation, Right atrial enlargement, Left bun... |
OMIM:617047 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
Hemochromatosis, Neonatal |
|
Hepatocellular necrosis, Hepatic failure, Cirrhosis, Nonimmune hydrops fetalis, Cholestasis, Hepa... |
OMIM:231100 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Abnormal mitral valve morphology, Airway obstruction, Stroke, Systol... |
ORPHA:99103 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... |
OMIM:251880 |
Preeclampsia/Eclampsia 1 |
|
Elevated hepatic transaminase, Edema, Hypertension, Thrombocytopenia, Intrauterine growth retarda... |
OMIM:189800 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormal jugular vein morphology, Reduced left ventricular ejection fraction, Holosystolic murmur... |
ORPHA:1677 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Supraventricular arrhythmia, Anomalous pulmonary venous return, Stroke, ... |
ORPHA:99104 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Abnormality of the liver |
OMIM:206100 |
Adams-Oliver Syndrome 5 |
|
Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosis, Brachydactyly, Syndac... |
OMIM:616028 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Hypomagnesemia, Episodic hypokalemia |
ORPHA:564178 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
Congenital Pulmonary Veins Atresia Or Stenosis |
|
Abnormal cardiac septum morphology, Respiratory insufficiency, Hypertension |
ORPHA:3188 |
Angioedema, Hereditary, 6 |
|
Angioedema, Facial edema, Edema of the dorsum of hands |
OMIM:619363 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Respiratory insufficiency, Syndactyly, Neonatal death, Ventricular septal defect, Hypoplasia of t... |
OMIM:228940 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased endomysial connective tissue, Reduced vital capacity, EMG: myopathic abnormalities, Res... |
ORPHA:266 |
Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice |
OMIM:312500 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory insufficiency, Distal arthrogryposis, Arthrogryposis multiplex congenita, Respiratory... |
OMIM:208081 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Right atrial enlargement, Restrictive cardiomyopathy, Nonimmune hydrops fetalis, Endocardial fibr... |
OMIM:619313 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal rib m... |
ORPHA:1354 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Apnea, Ventricular septal defect, Death in infancy, Hypertrophic cardiomyopathy, Respiratory fail... |
OMIM:616277 |
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot, Split foot |
OMIM:601348 |
Carcinoid Syndrome |
|
Increased serum serotonin, Atypical pulmonary carcinoid tumor, Tricuspid regurgitation, Carcinoid... |
ORPHA:100093 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Camptodactyly of finger, Brachydactyly, Ventricular septal de... |
ORPHA:1937 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Diffuse alveolar hemorr... |
OMIM:614034 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... |
OMIM:618164 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... |
OMIM:618845 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... |
OMIM:603554 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Left ventricular noncompaction, Cardiogenic shock, Dilated cardiomyopathy, ... |
OMIM:613642 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... |
OMIM:612158 |
Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Hypogonad... |
OMIM:613313 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Pedal edema, Reduced left ventricular ejection fraction, Respiratory f... |
ORPHA:563 |
Indomethacin Embryofetopathy |
|
Atrial septal defect, Respiratory insufficiency, Hydrops fetalis, Ventricular septal defect, Olig... |
ORPHA:1909 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Increased ci... |
ORPHA:139507 |
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia, Intrauterine growth retardation |
ORPHA:2802 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Left ventricular outflow tract obst... |
OMIM:613854 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypomagnesemia, Hypokalemia |
OMIM:618314 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Hypog... |
OMIM:615234 |
Partial Atrioventricular Septal Defect |
|
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... |
ORPHA:1330 |
Lethal Congenital Contracture Syndrome 2 |
|
Ventricular septal defect, Polyhydramnios, Dilated cardiomyopathy, Respiratory failure, Arthrogry... |
OMIM:607598 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
Hypomagnesemia 2, Renal |
|
Hypomagnesemia, Hypokalemia |
OMIM:154020 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Right atrial enlargement, Reduced FEV1/FVC ratio, Abnormal T-wave, Reduced vital c... |
ORPHA:70591 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Short stature,... |
OMIM:615631 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... |
OMIM:615396 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... |
OMIM:604169 |
Nemaline Myopathy 8 |
|
Nemaline bodies, Flexion contracture, Myofibrillar myopathy, Polyhydramnios, Death in infancy, Fa... |
OMIM:615348 |
Asbestos Intoxication |
|
Myocardial fibrosis, Oxygen desaturation on exertion, Reduced vital capacity, Hypoxemia, Nonprodu... |
ORPHA:2302 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... |
OMIM:601493 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Short stature, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepat... |
OMIM:614480 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Right aortic arch, Transposition of the... |
OMIM:231060 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Dilated cardiomyopath... |
OMIM:231530 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Flexion contracture, Increased variability in muscle fiber diameter, Spinal muscular atrophy, Pol... |
OMIM:616867 |
Nestor-Guillermo Progeria Syndrome |
|
Right atrial enlargement, Thin ribs, Flexion contracture, Hypertension, Mitral regurgitation, Ost... |
OMIM:614008 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... |
ORPHA:64743 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hydrops fetalis, Hemolytic anemia, Microcytic ... |
ORPHA:846 |
Retinitis Pigmentosa 59 |
|
Hepatomegaly, Cystoid macular edema, Elevated hepatic transaminase, Cryptorchidism, Intrauterine ... |
OMIM:613861 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Hypoplastic left hear... |
OMIM:220210 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Edema, Neutropenia, Anemia, Lymph... |
OMIM:603552 |
Transaldolase Deficiency |
|
Telangiectasia, Atrial septal defect, Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Biventricul... |
ORPHA:101028 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Scimitar Syndrome |
|
Tricuspid atresia, Respiratory distress, Anomalous pulmonary venous return, Ventricular septal de... |
ORPHA:185 |
Hepatocellular Carcinoma |
|
Abnormality of the hepatic vasculature, Type II diabetes mellitus, Hepatomegaly, Hemobilia, Budd-... |
ORPHA:88673 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the thymus, Hepatomegal... |
OMIM:300400 |
Congenital Toxoplasmosis |
|
Intrauterine growth retardation, Hepatomegaly, Thrombocytopenia, Elevated hepatic transaminase, A... |
ORPHA:858 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Postaxial polydactyly, Coarctation of aorta, Broad hallux, Complet... |
OMIM:217095 |
Aortic Arch Interruption |
|
Respiratory distress, Blood pressure substantially higher in arms than legs, Systolic heart murmu... |
ORPHA:2299 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Overlapping toe, Atrial septal defect, Cutaneous syndactyly, Overl... |
OMIM:618316 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory insufficiency, Dilated cardiomyopathy, Death in infancy, Hypertrophic cardiomyopathy,... |
OMIM:614299 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Torticollis, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Patent ductus ar... |
OMIM:249670 |
Metatropic Dysplasia |
|
Halberd-shaped pelvis, Cone-shaped epiphysis, Hyperplasia of the femoral trochanters, Flared hume... |
OMIM:156530 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Type II diabetes mellitus, Hepatomegaly, Splenome... |
OMIM:616860 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... |
OMIM:269600 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Respiratory insufficiency due to muscle weakness, Increased variabilit... |
OMIM:616816 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration |
OMIM:161900 |
Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hydrops fetalis, Pericarditis, Polyhydramnios, A... |
ORPHA:163596 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Abnormal pulmonary valve morphology, Flexion contracture, Hypertrophic cardiomyopathy, Camptodact... |
ORPHA:1194 |
Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Patent foramen ovale, Intrauterine growth retardation, Hypoplastic spleen, Atrial septal defect |
ORPHA:89844 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Decreased acid sphingomyelinase activity, Splenomegaly, Sho... |
OMIM:607616 |
Microcephaly-Cardiomyopathy Syndrome |
|
Clinodactyly of the 5th finger, Ventricular septal defect, Dilated cardiomyopathy, Sandal gap, In... |
ORPHA:2515 |
Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Dupuytren contracture |
OMIM:122850 |
Adams-Oliver Syndrome 4 |
|
Short toe, Absent middle phalanx of the 3rd toe, Atrial septal defect, Aplasia of the middle phal... |
OMIM:615297 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Growth delay, Anemia, Ascites, Lymphadenopathy |
ORPHA:100025 |
Muscular Dystrophy, Congenital, 1B |
|
Generalized muscle hypertrophy, Pectoralis amyotrophy, Congenital muscular dystrophy, Sternocleid... |
OMIM:604801 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Respiratory insufficiency, Arrhythmia, Ventricular septal defect, Patent ductus arteriosus, Hyper... |
OMIM:617021 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypomagnesemia |
OMIM:619908 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Neonatal death |
OMIM:273680 |
Trimethylaminuria |
|
Splenomegaly, Tachycardia, Neutropenia, Hypertension, Anemia |
OMIM:602079 |
Feingold Syndrome 2 |
|
3-4 toe syndactyly, 2-3 toe syndactyly, Short middle phalanx of the 2nd finger, Ventricular septa... |
OMIM:614326 |
Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... |
OMIM:615373 |
Pontocerebellar Hypoplasia, Type 1C |
|
Flexion contracture, Respiratory insufficiency, Spinal muscular atrophy, Respiratory failure, Ske... |
OMIM:616081 |
Congenital Atransferrinemia |
|
Hypothyroidism, Anemia, Abnormality of the pancreas |
ORPHA:1195 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Aortic valve stenosis, Hypertrophic cardiomyopathy, Pulmonic stenosis, Cholestasis,... |
OMIM:615415 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect, Death in infancy, Epiphyseal stippling |
OMIM:614876 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Hydrops fetalis, Poikilocytosis, Congenital hemolytic anemia,... |
ORPHA:766 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated hepatic transaminas... |
OMIM:616278 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cor pulmonale, Cough, Tachypnea, Respiratory failure |
OMIM:263000 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:614429 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Elevated circulating alanine aminotransferase concentration, Hepatic b... |
OMIM:613759 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ... |
ORPHA:79301 |
Muscular Dystrophy, Duchenne Type |
|
Hamstring contractures, Respiratory insufficiency due to muscle weakness, Congestive heart failur... |
OMIM:310200 |
Feingold Syndrome Type 2 |
|
Brachydactyly, Ventricular septal defect, Short middle phalanx of finger, Short thumb, Toe syndac... |
ORPHA:391646 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
Primary Ciliary Dyskinesia |
|
Double outlet right ventricle, Airway obstruction, Anomalous pulmonary venous return, Wheezing, S... |
ORPHA:244 |
Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy, Hydrops fetalis, Thrombocytopenia, Anemia, Ascites, Intrauterine gro... |
ORPHA:295 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Death in adolescence, Death in early adulthood, Cardiomyocyte hypertrophy, Dilated cardiomyopathy... |
OMIM:605676 |
Vacterl Association With Hydrocephalus |
|
Absent thumb, Radial club hand, Respiratory insufficiency, Respiratory failure, Stillbirth, Abnor... |
OMIM:276950 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice |
OMIM:613977 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Abnormal circulating biopterin concentration, Hypomagnesemia, Abnormal circulating neopterin conc... |
ORPHA:1578 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Hematochezia, Ventricular septal defect, Pol... |
OMIM:243150 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... |
OMIM:619463 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... |
OMIM:618719 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Asplenia, Short stature |
ORPHA:3204 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration |
OMIM:242530 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Cirrhosis, E... |
OMIM:214900 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Asthma, Overlapping toe, Atrial septal defect, Pulmonic stenosis, Camptodactyly, Ventricular sept... |
OMIM:614262 |
Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Corneal stromal edema, Hypoplas... |
ORPHA:699 |
Fixed Subaortic Stenosis |
|
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... |
ORPHA:3092 |
Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Clinodactyly of the 5th finger, Atrial septal defect, Joint contra... |
OMIM:179613 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy |
OMIM:617228 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... |
OMIM:614980 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect, Clinodactyly of the 5th finger, Umbilical hernia |
ORPHA:1918 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Intrauterine growth retardation, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hyperinsulinemi... |
ORPHA:71212 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Abnormal coronary artery mor... |
ORPHA:860 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Short ribs, Hypoplasia of the radius, Hypoplastic ilia, Postaxial polydacty... |
OMIM:617895 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Hypomagnesemia, Hyperuricemia |
OMIM:613845 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, ... |
ORPHA:2442 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Polyhydramnios, Respiratory failure, Congestive heart failure, Ragged-red muscle fibers |
OMIM:616794 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Supraventricular tachycardia, Respiratory insufficiency, Fatty replacement of skeletal muscle, Ca... |
OMIM:255100 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Hepatocellular necrosis, Hepatomegaly, Microvesicular hepatic ... |
OMIM:618278 |
Holt-Oram Syndrome |
|
Anomalous pulmonary venous return, Absent thumb, Atrioventricular canal defect, Down-sloping shou... |
ORPHA:392 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Muscle fiber necrosis, EMG: myopathic abnormalities, Diaphragmatic eventrat... |
OMIM:614399 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia of inadequate production, Hepatomegaly, Anisocytosis, Increased RBC distribution width, Sc... |
OMIM:613673 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Intrauterine growth retardation, Neonatal death, Congestive heart failure |
OMIM:301021 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Pediatric Hepatocellular Carcinoma |
|
Hepatic fibrosis, Hepatomegaly, Hepatic necrosis |
ORPHA:33402 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Apnea, Flexion contracture, Muscular dystrophy, Respiratory insufficiency, Respiratory failure |
OMIM:613869 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Hep... |
OMIM:278000 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
Mitochondrial Complex I Deficiency, Nuclear Type 22 |
|
Respiratory insufficiency, Hypertrophic cardiomyopathy, Intrauterine growth retardation |
OMIM:618243 |
Lymphatic Malformation 11 |
|
Lymphedema, Pedal edema |
OMIM:619401 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Flexion contracture, Congenital hip dislocation, Overlapping fingers, Arthrogryposis multiplex co... |
OMIM:618291 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Asplenia, Howell-Jolly bodies |
OMIM:271400 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Hypoplasia of the capital femoral epiphysis, Hand muscle atrophy, Limb muscle weakness, Respirato... |
OMIM:600561 |
Arthrogryposis Multiplex Congenita 6 |
|
Nemaline bodies, Adducted thumb, Death in childhood, Increased variability in muscle fiber diamet... |
OMIM:619334 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Lower limb muscle weakness, Cough, Respiratory failure requiring assisted v... |
ORPHA:90117 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased circulating renin level, Decreased serum creatinine, Hyponatremia |
OMIM:300539 |
Mirage Syndrome |
|
Adrenal insufficiency, Lymphopenia, Cryptorchidism, Short stature, Hypergonadotropic hypogonadism... |
OMIM:617053 |
Catel-Manzke Syndrome |
|
Clinodactyly of the 5th finger, Atrial septal defect, Radial deviation of the 2nd finger, Camptod... |
ORPHA:1388 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Short stature, Splenomegaly, Elevated circulating aspartate aminotransferase concen... |
OMIM:620010 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Weakness of facial musculature, Arrhythmia, Rag... |
ORPHA:352447 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Mild postnatal growth retardation, Splenomegaly, R... |
OMIM:224120 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Abnormality of the pancreas, Polyhydramnios, Oligohydramnios, ... |
ORPHA:3032 |
Atransferrinemia |
|
Congestive heart failure, Abnormality of the liver, Hypochromic anemia |
OMIM:209300 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Lymphopenia, Secundum atrial septal defect, Splenomegaly, Pulmonic stenosis, Crypto... |
OMIM:612541 |
Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Tetralogy of Fallot |
OMIM:187500 |
Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Mitral regurgitation, Ven... |
OMIM:607941 |
Pontocerebellar Hypoplasia, Type 4 |
|
Polyhydramnios, Congenital contracture, Respiratory failure, Death in infancy |
OMIM:225753 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis |
OMIM:608898 |
Neonatal Lupus Erythematosus |
|
Neutropenia, Hepatomegaly, Atrioventricular block, Splenomegaly, Hepatic failure, Aplastic anemia... |
ORPHA:398124 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia |
ORPHA:398063 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy |
ORPHA:100024 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Facial diplegia, Hip dysplasia, Neonatal death, Arthrogryposis multiplex congenita, Rocker bottom... |
OMIM:611890 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... |
ORPHA:75564 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Pancytopenia, Thro... |
OMIM:610333 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reduced level of N-acetylglucosami... |
OMIM:224100 |
16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Arachnodactyly, Coarctation of aorta, Tetralogy of Fallot, Ventricular sept... |
ORPHA:261243 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial ... |
ORPHA:1120 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Sudden cardiac death, Hypertrophic ca... |
OMIM:201475 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory insufficiency, Respiratory failure, Death in infancy, Central apnea |
OMIM:611722 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal heart morphology, Central sleep apnea, Hypertrophic cardiomyopathy, Respiratory failure,... |
ORPHA:70472 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
Syndromic Diarrhea |
|
Bicuspid aortic valve, Hepatomegaly, Hepatoblastoma, Lymphopenia, Splenomegaly, Short stature, Ci... |
ORPHA:84064 |
Aicardi-Goutieres Syndrome 3 |
|
Elevated hepatic transaminase, Hepatosplenomegaly, Thrombocytopenia |
OMIM:610329 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Respiratory insufficiency, Muscular dystrophy, Arrhythmia, Cardiomyopathy, Proximal amyotrophy |
OMIM:612999 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Double outlet right ventricle, 2-3 toe syndactyly, Atrial septal defect, Pulmonic stenosis, Tetra... |
ORPHA:3304 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:615085 |
Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... |
ORPHA:3202 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrauterine growth retardation, Hepatomegaly, Jaundice, Hypoplasia of the thymus, Palpebral edem... |
OMIM:214110 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Hyp... |
ORPHA:848 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Respiratory insufficiency, Patent ductus arteriosus, Hypertrophic cardiom... |
OMIM:616276 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... |
OMIM:300696 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
Wolman Disease |
|
Adrenal insufficiency, Hepatomegaly, Splenomegaly, Hepatic failure, Adrenal calcification, Bone-m... |
ORPHA:75233 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... |
OMIM:618773 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Abnormal cardiac septum morphology, Respiratory insufficiency, Neonatal death, Coarctation of aor... |
OMIM:601612 |
Preeclampsia |
|
Abnormality of the hepatic vasculature, Elevated systolic blood pressure, Elevated hepatic transa... |
ORPHA:275555 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Persistent... |
OMIM:614954 |
Transaldolase Deficiency |
|
Telangiectasia, Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Atrial septal def... |
OMIM:606003 |
Immunodeficiency 69 |
|
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Hydrops fetalis, Thrombocytopenia, Polyhydramnios, Patent ductus arteriosus, Anemia... |
ORPHA:2123 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, Slender fi... |
ORPHA:75840 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... |
OMIM:301045 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Reduced muscle fiber alpha dystroglycan, Multiple joint contractures, Hypoglycosylation of alpha-... |
ORPHA:370968 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Short stature, Elevated circulating aspartate aminotransferase concen... |
OMIM:619868 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Tachycardia, Coarctatio... |
ORPHA:3426 |
Mmep Syndrome |
|
Ventricular septal defect, Triphalangeal thumb, Split foot |
ORPHA:3434 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Nemaline bodies, Respiratory insufficiency, Limb muscle weakness, Dyspnea, Global systolic dysfun... |
OMIM:606842 |
Tetralogy Of Fallot |
|
Brachydactyly, Clinodactyly of the 5th finger, Intrauterine growth retardation, Tetralogy of Fallot |
ORPHA:3303 |
Heterotaxy, Visceral, 12, Autosomal |
|
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Dextrotr... |
OMIM:619702 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating alkaline phosphatase concentration, Splenomegaly, Elevated circulating aspar... |
OMIM:619658 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Increased blood urea nitrogen |
OMIM:223360 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal cardiac septum morphology, Abnormal hemoglobin, Short stature, Anemia, Thrombocytopenia |
ORPHA:3319 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Myocardial fibrosis, Abnormality of the hepatic vasculature, Hepatosplenomegaly, Nodular regenera... |
ORPHA:210136 |
Myopathy, Myosin Storage, Autosomal Recessive |
|
Death in early adulthood, Right bundle branch block, Scapuloperoneal amyotrophy, Muscle fiber hya... |
OMIM:255160 |
Intermediate Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Type 1 muscl... |
ORPHA:171433 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Proximal placem... |
OMIM:618624 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypertrophic cardiomyopathy, Respiratory failure, Death in infancy |
OMIM:619386 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia |
OMIM:175500 |
Hyperekplexia 4 |
|
Flexion contracture, Adducted thumb, Camptodactyly, Distal arthrogryposis, Umbilical hernia, Resp... |
OMIM:618011 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Right ventricular hypertrophy, Left ... |
ORPHA:444013 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Cirrhosis, Arrhythmia, Diabetes mellitus, Anemia, Hepatic steatosis, Cardiomyopathy |
OMIM:606069 |
Atrial Standstill |
|
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... |
ORPHA:1344 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Ventricular septal defect, Wolff-Parkinson-White syndrome, Ventricular septal hypertrophy |
OMIM:614947 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypomagnesemia, Hypocalcemia |
OMIM:244460 |
Grange Syndrome |
|
Syndactyly, Ventricular septal defect, Aortic regurgitation, Patent ductus arteriosus, Arterial s... |
ORPHA:79094 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Anemia, Splenomegaly |
ORPHA:75563 |
Renal Tubular Acidosis, Distal, 1 |
|
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia |
OMIM:179800 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Bicuspid aortic valve, 2-3 toe syndactyly, Atrial septal defect, F... |
ORPHA:477817 |
Chromosome 16P13.3 Duplication Syndrome |
|
Short toe, Atrial septal defect, Short phalanx of finger, Tapered finger, Camptodactyly, Ventricu... |
OMIM:613458 |
Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Polyhydramnios, Abnormal morphology of the radius, Atrial septal defect |
ORPHA:3469 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Flexion contracture, Left ventricular noncompaction, Increased intramyocellular lipid droplets, R... |
OMIM:252011 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Muscle fiber atrophy, Reduced vital capacity, Abnormal Z disc morphology, Internally nucleated sk... |
OMIM:618654 |
Myopathy, Myofibrillar, 6 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Respiratory insufficiency, Myofibrillar myopath... |
OMIM:612954 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot |
OMIM:617992 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Ventricular septal defect, Atrial septal defect |
OMIM:614249 |
Butyrylcholinesterase Deficiency |
|
Myocardial infarction, Respiratory failure, Congestive heart failure, Respiratory failure requiri... |
ORPHA:132 |
Majeed Syndrome |
|
Joint swelling, Decreased mean corpuscular volume, Anemia of inadequate production, Hepatosplenom... |
OMIM:609628 |
Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
Protoporphyria, Erythropoietic, X-Linked |
|
Cholelithiasis, Elevated hepatic transaminase, Iron deficiency anemia |
OMIM:300752 |
Congenital Rubella Syndrome |
|
Intrauterine growth retardation, Hepatomegaly, Atrial septal defect, Splenomegaly, Short stature,... |
ORPHA:290 |
Hemochromatosis, Type 3 |
|
Lymphopenia, Cirrhosis, Hypogonadotropic hypogonadism, Elevated hepatic transaminase, Neutropenia... |
OMIM:604250 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variabilit... |
OMIM:603689 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenome... |
OMIM:616828 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Splenomegaly, Cholestasis, Edema, Hypertension |
OMIM:105200 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... |
OMIM:612840 |
Gracile Bone Dysplasia |
|
Ascites, Hypoplastic spleen, Asplenia, Short stature |
OMIM:602361 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Respiratory insufficiency, Tapered fing... |
OMIM:313420 |
Short Rib-Polydactyly Syndrome |
|
Cone-shaped epiphysis, Bowing of the long bones, Respiratory failure, Short long bone, Intrauteri... |
ORPHA:1505 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Decreased liver function, Cirrhosis, Microcytic anemia, Edema |
ORPHA:79278 |
Hepatorenocardiac Degenerative Fibrosis |
|
Cirrhosis, Hepatosplenomegaly, Hepatocellular carcinoma, Elevated hepatic transaminase, Hepatic b... |
OMIM:619902 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia |
ORPHA:94059 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Intrauterine growth retardation, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Ch... |
OMIM:617156 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Growth delay, Anemia, Thrombocyt... |
OMIM:611490 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... |
OMIM:619657 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Weakness of facial muscul... |
ORPHA:254875 |
Aortic Valve Disease 1 |
|
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... |
OMIM:109730 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia, Decreased ... |
OMIM:613011 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Abnormal blood ion concentration, Hy... |
ORPHA:31824 |
Infantile Liver Failure Syndrome 1 |
|
Hepatomegaly, Acute hepatic failure, Macrocytic anemia, Elevated hepatic transaminase, Anemia, He... |
OMIM:615438 |
East Syndrome |
|
Hypomagnesemia, Hypokalemia, Increased circulating renin level |
ORPHA:199343 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Sideroblastic anemia, Hepatomegaly, Elevated hepatic transaminase, Growth delay, Hypertrophic car... |
OMIM:613561 |
Proximal Spinal Muscular Atrophy |
|
Facial diplegia, Multiple joint contractures, Hip dislocation, Atrial septal defect, Flexion cont... |
ORPHA:70 |
8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot, Toe syndactyly |
ORPHA:251076 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Arrhythmia, Increased circulating lactate dehydrogenase c... |
ORPHA:26791 |
Ciliary Dyskinesia, Primary, 5 |
|
Respiratory insufficiency due to defective ciliary clearance, Situs inversus totalis, Chronic rhi... |
OMIM:608647 |
Schnitzler Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Vasculitis, Anemia, Lymphadenopathy |
ORPHA:37748 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Dehydration, Neutropenia, Anemia, Thrombocytopenia, Car... |
ORPHA:79312 |
Timothy Syndrome |
|
Cutaneous syndactyly, Syndactyly, Tetralogy of Fallot, Ventricular septal defect, Patent ductus a... |
OMIM:601005 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Triceps weakness, Reduced vital capacity, Exertional dyspnea, EMG: myopathic abnormalities, Facia... |
ORPHA:98913 |
Lethal Acantholytic Erosive Disorder |
|
Clinodactyly of the 5th finger, Hypovolemic shock, Camptodactyly of toe, 2-3 finger syndactyly, 4... |
ORPHA:158687 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145980 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Hepatomegaly, Cryptorchidism, Neonatal death, Cholestasis, Thrombocytop... |
OMIM:608104 |
Tracheal Agenesis |
|
Polyhydramnios, Abnormal cardiac septum morphology, Respiratory insufficiency |
ORPHA:3346 |
Alg1-Cdg |
|
Respiratory failure, Cardiomyopathy, Abnormal heart morphology |
ORPHA:79327 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Intrauterine growth retardation, Hepatomegaly, Splenomegaly, Decreased hemoglobin... |
OMIM:266200 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory insufficiency, Respiratory failure |
OMIM:618328 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Bile duct pro... |
OMIM:208540 |
Stormorken Syndrome |
|
Short stature, Anemia, Thrombocytopenia, Epistaxis, Asplenia, Howell-Jolly bodies |
OMIM:185070 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... |
OMIM:108900 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Atrioventricular canal defect, Congenital hip dislocation, Ventricular sept... |
OMIM:306955 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Severe Congenital Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Flexion contracture, Thin ribs, Abnormality of the diaphragm, A... |
ORPHA:171430 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Anemia, Dehydration, Hepatomegaly |
ORPHA:28 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Multilobulated spleen, Short stature, Pulmonic stenosis, Single ventricle, ... |
OMIM:601186 |
Wilson Disease |
|
Joint swelling, Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis, Th... |
ORPHA:905 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Intrauterine growth retardation, Respiratory insufficiency, Polyhydramnios, Arthrogryposis multip... |
OMIM:615330 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Tetralogy of Fallot |
OMIM:615542 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia |
OMIM:618183 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Syndactyly, Ventricular septal defect, Polyhydramnios, Duplication of phala... |
OMIM:263630 |
Ventricular Septal Defect 3 |
|
Ventricular septal defect, Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus |
OMIM:614432 |
Acute Interstitial Pneumonia |
|
Hypoxemia, Hypertension, Nonproductive cough, Crackles, Tachypnea, Decreased DLCO, Peripheral ede... |
ORPHA:79126 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Intrauterine growth retardation, Hypoplasia of the thymus, Peritoneal abscess, Ventricular septal... |
ORPHA:436252 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hyperparathyroidism, Anemia, Hepatomegaly, Splenomegaly |
OMIM:618107 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Leukopenia, Thrombocytopenia, Biliary tract obstruction, P... |
ORPHA:77259 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Congenital diaphragmatic hernia, Abnormal hip bone morphology, Respiratory insufficiency, Tetralo... |
ORPHA:1166 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Facial diplegia, Hypertrophied muscle fibers, Abnormal skeletal muscle morphology, Increased vari... |
ORPHA:98905 |
Sandestig-Stefanova Syndrome |
|
Intrauterine growth retardation, Muscular ventricular septal defect, Camptodactyly, Clinodactyly,... |
OMIM:618804 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Ventricular septal defect, Clinodactyly of the 5th finger, Patent ductus arteriosus |
OMIM:619717 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Short stature, Hepatosplenomegaly, Hypothyroidism, Elevated hepatic transaminase, Microcytic anem... |
OMIM:619013 |
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Atrial septal defect, Posterior rib fusion, Ventricular septal defect, Patent ductus arteriosus, ... |
OMIM:608406 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Hepatoc... |
OMIM:235200 |
Glycogen Storage Disease Vi |
|
Increased hepatic glycogen content, Postnatal growth retardation, Hepatomegaly, Elevated hepatic ... |
OMIM:232700 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Coarctation of aorta, Broad hallux, Broad thumb, Patent ductus arteriosus,... |
OMIM:612474 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Short stature, Elevated hepatic transaminase, Diabetes mellitus, Hepatic steatosis,... |
OMIM:610717 |
Phenobarbital Embryopathy |
|
Abnormal mitral valve morphology, Brachydactyly, Tetralogy of Fallot, Aplasia/Hypoplasia of fingers |
ORPHA:1919 |
Leigh Syndrome |
|
Hepatocellular necrosis |
OMIM:256000 |
Glycogen Storage Disease Iv |
|
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Polyhydramnios, Edema, Portal hy... |
OMIM:232500 |
Snakebite Envenomation |
|
Muscle fiber necrosis, Stroke, Respiratory paralysis, Epistaxis, Tachycardia, Intracranial hemorr... |
ORPHA:449285 |
Aggressive Systemic Mastocytosis |
|
Decreased liver function, Neutropenia, Abnormal mast cell morphology, Elevated circulating alkali... |
ORPHA:98850 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Macroglossia, Left ventri... |
ORPHA:308552 |
Coffin-Siris Syndrome 10 |
|
Ventricular septal defect, Clinodactyly |
OMIM:618506 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Pancreatitis, Hepatomegaly, Dehydration, Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia,... |
ORPHA:27 |
Interstitial Nephritis, Karyomegalic |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia, Asplenia |
OMIM:618948 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Diastasis recti, Coat hanger sign of ribs, Large placenta, Ventricular septal defect, Polyhydramn... |
ORPHA:254534 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia |
OMIM:205950 |
Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Splenomegaly |
OMIM:613490 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... |
OMIM:614470 |
Leishmaniasis |
|
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopenia, Elevate... |
ORPHA:507 |
Acute Liver Failure |
|
Adrenal insufficiency, Hepatocellular necrosis, Jaundice, Intracranial hemorrhage, Hypotension, E... |
ORPHA:90062 |
Hydrops Fetalis, Nonimmune |
|
Anemia, Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure |
OMIM:236750 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Abnormality of the lymph nodes, Abnormality of the lymphatic system, Abnormality of... |
ORPHA:54251 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Atrial septal defect, Hydrops fetalis, Pulmonary embolism, Microcytic anemia, Paten... |
ORPHA:90308 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Broad metacarpals, Bicuspid aortic valve, Atrial septal defect, Os... |
ORPHA:371428 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Growth delay, Hepatomegaly, Short stature, Increased hepatic glycogen content, Cirrhosis, Hepatoc... |
ORPHA:369 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Thrombocytopenia, Internal hemorrhage, Hypertension, Anemia, Lymphadenopathy |
ORPHA:69077 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Mitral regurgitation, Postaxial ha... |
ORPHA:83473 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Weakness of facial musculature, Respiratory failure |
OMIM:618637 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... |
ORPHA:231222 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Hemophagocytosis, Acute hepatic failure, Hepatosplenomegaly, Monocyto... |
OMIM:619644 |
Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Hypoplasia of the thymus, Hydrops fetalis, Ventricular septal defect, Oligohydr... |
OMIM:617022 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia, Dilated cardiomyopathy |
OMIM:611283 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:613101 |
Primary Myelofibrosis |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm... |
ORPHA:824 |
Joubert Syndrome 18 |
|
Ventricular septal defect, Intrauterine growth retardation, Polydactyly, Camptodactyly |
OMIM:614815 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect, Preaxial foot polydactyly, Polysyndactyly of hallux |
OMIM:235750 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased liver function, Decreased circulating cortisol level, Nonimmune hydrops fetalis, Neonat... |
OMIM:618839 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased liver function, Decreased circulating cortisol level, Nonimmune hydrops fetalis, Neonat... |
OMIM:618835 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Edema, Thrombocy... |
ORPHA:158029 |
Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... |
ORPHA:3384 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Hypermagnesemia |
OMIM:145981 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Hepatic fail... |
OMIM:613812 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Cog7-Cdg |
|
Hepatomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Postnatal growth retardation, Ja... |
ORPHA:79333 |
Hereditary Spherocytosis |
|
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... |
ORPHA:822 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypomagnesemia, Elevated circulating creatine kinase ... |
OMIM:619743 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Decreased liver function, Elevated hepatic transaminase, Postnatal growth retardation, Hepatic st... |
OMIM:617093 |
14Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Toe clinodactyly, Toe syndactyly |
ORPHA:261120 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Hypoalbuminemia, Hypoproteinemia |
ORPHA:90362 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Biliary tract abnorma... |
ORPHA:1414 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Pedal edema, Edema, Intestinal lymphangiectasia, Stillbirth |
OMIM:152800 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Ventricular septal defect, Atrial septal defect |
OMIM:608227 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Intrauterine growth retardation, Respiratory failure |
ORPHA:1832 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory insufficiency, Hydrops fetalis, Arrhythmia, Rhabdomyolysis, Dilated cardiomyopathy, R... |
OMIM:609015 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... |
OMIM:616689 |
Maternal Phenylketonuria |
|
Double outlet right ventricle, Hypoplastic left heart, Brachydactyly, Coarctation of aorta, Tetra... |
ORPHA:2209 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Microcyt... |
OMIM:618805 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Anencephaly, Ventricular septal defect, Aplasia/Hypoplasia of the radius,... |
ORPHA:2476 |
Diamond-Blackfan Anemia 6 |
|
Atrial septal defect, Tracheomalacia, Mitral regurgitation, Tetralogy of Fallot, Ventricular sept... |
OMIM:612561 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... |
OMIM:617241 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Splenomegaly, Polyhydramnios, Anemia, Oligohydramnios, Ascites |
ORPHA:1046 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Intrauterine growth retardation, Hypoplastic left heart, Abnormal rib ... |
ORPHA:2772 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
Sternum, Premature Obliteration Of Sutures Of |
|
Short sternum, Abnormal heart morphology |
OMIM:184800 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, A... |
OMIM:612714 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... |
OMIM:602347 |
Blue Diaper Syndrome |
|
Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
Cinca Syndrome |
|
Leukocytosis, Eosinophilia, Hepatosplenomegaly, Lymphedema, Growth delay, Anemia, Lymphadenopathy |
OMIM:607115 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Atrial septal defect, Tetralogy of Fallot, Sandal gap, Ventricular hypertrophy, Pulmonary arteria... |
OMIM:300887 |
Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Cough, Heart murmur, Restrictive ventilatory defect, Dyspnea, Diffuse alveolar hemorrha... |
ORPHA:99931 |
Cooper-Jabs Syndrome |
|
Congenital diaphragmatic hernia, Abnormal hip bone morphology, Camptodactyly of finger, Respirato... |
ORPHA:1488 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Abnormal carotid artery morphology, Myocarditis... |
ORPHA:3342 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Pulmonary artery atresia |
ORPHA:306550 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Neonatal death, Hepatic periportal necrosis, Hepatic steatosis |
OMIM:231680 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Facial palsy, Dilated cardiomyopathy, Respiratory insufficiency |
OMIM:615959 |
Glutamate-Cysteine Ligase Deficiency |
|
Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis, Jaundice |
ORPHA:33574 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Peripheral arterial stenosis, Ventricular septal defect, Pedal edema, Patent ductus arteriosus, S... |
OMIM:126320 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Double outlet right ventricle, Abnormal left ventricular function, Coxa valga, Pulmonic stenosis,... |
OMIM:301056 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in childhood, Respiratory insufficiency, Neonatal death, Death in infancy, Respiratory fail... |
OMIM:245400 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Respiratory insufficiency, Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyo... |
OMIM:615352 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Adrenal insufficiency, Decreased mean corpuscular volume, Hepatosplenomegaly, Abnormality of the ... |
ORPHA:300298 |
Scedosporiosis |
|
Sinusitis, Pleural empyema, Endocarditis, Cough, Pneumonia, Abnormal respiratory system physiolog... |
ORPHA:449280 |
Thoraco-Abdominal Enteric Duplication |
|
Camptodactyly of finger, Respiratory insufficiency, Dextrocardia, Missing ribs, Meningocele, Abno... |
ORPHA:1759 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Criss-Cross Heart |
|
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Respira... |
ORPHA:1461 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral pneumonia, Respiratory failure |
OMIM:619773 |
Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Situs inversus totalis, Dextrocardi... |
OMIM:605376 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy, Patent ductus arteriosus |
OMIM:616501 |
Gaucher Disease, Type I |
|
Hepatomegaly, Aortic valve stenosis, Splenomegaly, Mitral regurgitation, Pulmonary arterial hyper... |
OMIM:230800 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Glycogen Storage Disease Ixc |
|
Growth delay, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated... |
OMIM:613027 |
Congenital Enterovirus Infection |
|
Leukocytosis, Hepatic failure, Leukopenia, Hydrops fetalis, Cholestasis, Abnormal macrophage morp... |
ORPHA:292 |
Nephronophthisis 2 |
|
Pulmonary insufficiency, Respiratory insufficiency, Situs inversus totalis, Hypertension, Oligohy... |
OMIM:602088 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Hepatocellular ... |
ORPHA:158057 |
Macrophage Activation Syndrome |
|
Decreased liver function, Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Elevated cir... |
ORPHA:158061 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Diaphragmatic eventration, Camptodactyly of finger, Distal amyotrophy, Spinal muscular atrophy, T... |
OMIM:604320 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Short distal phalanx of finger, Hydranencephaly, Truncus arteriosus |
OMIM:601355 |
Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic failure, Splenomeg... |
OMIM:613489 |
Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia |
OMIM:131400 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial septal defect, Oligohydramnios, Hydrops fetalis, Ventricular septal defect, Lymphedema, Pa... |
OMIM:601927 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Hydrops fetalis, Ventricular septal defect, Polyhydramnios, Abnormal tricuspid valve morphology, ... |
ORPHA:3405 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hypernatremia, ... |
ORPHA:94093 |
Rh Deficiency Syndrome |
|
Hypochromia, Intrauterine growth retardation, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Ta... |
ORPHA:71275 |
Gaucher Disease, Type Ii |
|
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:230900 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hemolytic anemia, Edema, Hepatic failure |
OMIM:177000 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneumonia, Respiratory fai... |
ORPHA:2590 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Concentric hypertrophic cardiomyopathy, Death in childhood, Respiratory insufficiency, Rhabdomyol... |
OMIM:610505 |
Laterality Defects, Autosomal Dominant |
|
Asplenia |
OMIM:601086 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Apnea, Respiratory insufficiency, Neonatal death, Split hand, Respiratory failure |
OMIM:610127 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Equinus calcaneus, Left ventricular hypertrophy, Respiratory insufficien... |
ORPHA:746 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Decreased liver function, Hepatomegaly, Hepatic failure, Cirrhosis, Hepatosplenomegaly, Nonimmune... |
ORPHA:367 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Supracardiac total anomalous pulmonary venous connection, Apneic episodes i... |
ORPHA:99125 |
Aorta Coarctation |
|
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... |
ORPHA:1457 |
Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Flexion contracture, Short ribs, Multiple rib fractures, Short femur,... |
OMIM:616897 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... |
OMIM:602450 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Peritonitis, Cholecystitis, Elevate... |
ORPHA:131 |
Lymphatic Malformation 7 |
|
Respiratory distress, Facial edema, Pulmonary edema, Atrial septal defect, Nonimmune hydrops feta... |
OMIM:617300 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... |
OMIM:601494 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Type 1 m... |
OMIM:613954 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Atrial septal defect, Short ribs, Ventricular septal defect, Abnormal rib m... |
ORPHA:2519 |
Cardiac Diverticulum |
|
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Umbilical hern... |
ORPHA:1686 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Splenomegaly, Edema, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:2584 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Ventricular septal defect, Pneumonia, Cardiomegaly, Abnorm... |
ORPHA:95430 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Clinodactyly of the 5th finger, Arachnodactyly, Abnormal rib morphology, Po... |
ORPHA:2759 |
Absence Of The Pulmonary Artery |
|
Abnormal cardiac septum morphology, Systolic heart murmur, Abnormal coronary artery morphology, P... |
ORPHA:980 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Exocrine pancreatic insufficiency, Type II diabetes mellitus, Hyperthyroidism, Cirrhosis... |
OMIM:269200 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Hypomagnesemia, Hypokalemia, Increased circulating renin level |
OMIM:612780 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Dislocated radial head, Atrial septal defect, Brachydactyly, Short thumb, Pulmonary artery atresi... |
ORPHA:401935 |
Erythrocytosis, Familial, 8 |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... |
OMIM:222800 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Overlapping toe, Atrial septal defect, Systolic heart murmur, Tetralogy of Fal... |
OMIM:617478 |
Glycogen Storage Disease Ixa1 |
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Elevated hepatic transaminase, Growth delay, Hepatomegaly, Splenomegaly |
OMIM:306000 |
Cardiomyopathy, Dilated, 1S |
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Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... |
OMIM:613426 |
Microphthalmia, Syndromic 12 |
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Ventricular septal defect, Congenital diaphragmatic hernia, Hypoplastic left atrium |
OMIM:615524 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
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