Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly, Ataxia, Gait disturbance |
ORPHA:2274 |
Thomsen And Becker Disease |
|
Myotonia |
ORPHA:614 |
Myotonia Congenita, Autosomal Dominant |
|
Handgrip myotonia, Myotonia, Percussion myotonia, Myotonia with warm-up phenomenon, EMG: myotonic... |
OMIM:160800 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Cough, Decreased DLCO, ... |
OMIM:234810 |
Rippling Muscle Disease 1 |
|
Percussion-induced rapid rolling muscle contractions, Muscle mounding |
OMIM:600332 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... |
ORPHA:766 |
Proximal Myotonic Myopathy |
|
Myotonia |
ORPHA:606 |
Paramyotonia Congenita Of Von Eulenburg |
|
Handgrip myotonia, Myotonia of the upper limb, Myotonia, Myotonia of the face, Cold-sensitive myo... |
ORPHA:684 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Normokalemic Periodic Paralysis |
|
Percussion myotonia |
OMIM:170600 |
Hemoglobin H Disease |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Myotonia Congenita, Autosomal Recessive |
|
Percussion myotonia, Myotonia with warm-up phenomenon, Myotonia, EMG: myotonic runs |
OMIM:255700 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... |
OMIM:226990 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Respiratory failure requiring assisted ventilation, R... |
ORPHA:264675 |
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Myotonia |
OMIM:254950 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Desquamative interstitial pneumonitis, T... |
OMIM:265120 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Pulmonary arterial hypertension, Pulmonary venous occlusion, Interlobular septal thickening |
OMIM:265450 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Dyspnea, Tachypnea, Abnormal pulmonary int... |
OMIM:616414 |
Paramyotonia Congenita |
|
Percussion myotonia, Handgrip myotonia, Paradoxical myotonia |
OMIM:168300 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Muscular Dystrophy, Barnes Type |
|
Myotonia |
OMIM:158800 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti... |
OMIM:613673 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... |
OMIM:263000 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... |
OMIM:300908 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Rippling Muscle Disease 2 |
|
Percussion-induced rapid rolling muscle contractions, Muscle mounding |
OMIM:606072 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Brody Disease |
|
Percussion myotonia, Myotonia |
OMIM:601003 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Splenomegaly, U... |
ORPHA:2585 |
Hyperkalemic Periodic Paralysis |
|
Myotonia |
OMIM:170500 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
Myotonia, Potassium-Aggravated |
|
Percussion myotonia, Handgrip myotonia, Myotonia |
OMIM:608390 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Intraal... |
OMIM:300770 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e... |
OMIM:267450 |
Pulmonary Capillary Hemangiomatosis |
|
Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Dyspnea, Hemothorax, Pulmonary capillary ... |
ORPHA:199241 |
Myotonia Fluctuans |
|
Handgrip myotonia, Myotonia of the upper limb, Myotonia of the lower limb, Cold-sensitive myotoni... |
ORPHA:99734 |
Orotic Aciduria |
|
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... |
OMIM:258900 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity |
OMIM:616871 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg... |
OMIM:615285 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Myotonia |
ORPHA:371 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... |
OMIM:607685 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Elevated circulating C-reactive protein concentration, Diffuse a... |
ORPHA:178320 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... |
ORPHA:71275 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Acute Interstitial Pneumonia |
|
Cyanosis, Peribronchovascular interstitial thickening, Elevated circulating C-reactive protein co... |
ORPHA:79126 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypn... |
ORPHA:2257 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... |
ORPHA:91359 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Intermittent jaundice, Reticulocytosis |
OMIM:179700 |
Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... |
OMIM:620121 |
Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... |
ORPHA:254704 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Tachypnea, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood u... |
OMIM:620085 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
High Altitude Pulmonary Edema |
|
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema |
ORPHA:330012 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Elevated transferrin saturation |
OMIM:205950 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Myotonia |
OMIM:170400 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... |
ORPHA:70587 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron |
OMIM:603358 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... |
ORPHA:98870 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Scimitar Syndrome |
|
Respiratory distress, Abnormal lung morphology, Pulmonary artery hypoplasia, Cough, Patent ductus... |
ORPHA:185 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... |
OMIM:620135 |
X-Linked Sideroblastic Anemia |
|
Dyspnea, Abnormality of iron homeostasis |
ORPHA:75563 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Splenomegaly, Choreoathetosis |
OMIM:612126 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Cyanosis, Abnormal coronary artery morphology, Patent du... |
ORPHA:860 |
Total Anomalous Pulmonary Venous Return 1 |
|
Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Recurrent respiratory i... |
OMIM:106700 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutro... |
OMIM:603552 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg... |
OMIM:618278 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... |
ORPHA:95430 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Elevated circulating C-reactive protein concentration, Nonproduc... |
ORPHA:36238 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia |
OMIM:616959 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... |
OMIM:314050 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Congenital Heart Defects, Multiple Types, 6 |
|
Hypoplastic pulmonary veins, Coarctation of aorta, Right aortic arch, Total anomalous pulmonary v... |
OMIM:613854 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Myotonia |
OMIM:255710 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia |
ORPHA:858 |
Hjv Or Hamp-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... |
ORPHA:79230 |
Acetazolamide-Responsive Myotonia |
|
Myotonia |
ORPHA:99736 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Anisocytosis |
OMIM:604273 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Percussion myotonia |
ORPHA:34516 |
Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased serum iron |
ORPHA:446 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax... |
OMIM:613470 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Episodic tachypnea, Hyperammonemia, Elevated circulating suberic acid c... |
OMIM:615160 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis |
OMIM:231100 |
Methionine Malabsorption Syndrome |
|
Tachypnea, Positive ferric chloride test |
OMIM:250900 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma |
ORPHA:882 |
Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Dysmetr... |
OMIM:256550 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia |
ORPHA:100024 |
Avian Influenza |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... |
ORPHA:454836 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... |
OMIM:603903 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Elliptocytosis 1 |
|
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis |
OMIM:611804 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia |
OMIM:613101 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Splenomegaly, Hepatomegaly, Portal vein thrombosis, Portal hypertension |
OMIM:610293 |
Joubert Syndrome 23 |
|
Tachypnea, Apnea |
OMIM:616490 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... |
OMIM:615234 |
Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxyge... |
ORPHA:60025 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Myotonia |
OMIM:310440 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Spontaneous, recurrent epistaxis, Cyanosis, Transient ischemic attack, Cerebral arteriovenous mal... |
OMIM:610655 |
Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum iron |
OMIM:613313 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Myotonia |
ORPHA:209335 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension |
OMIM:617068 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites |
OMIM:269920 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Anomalous pulmonary veno... |
ORPHA:555874 |
Cardiomyopathy, Dilated, 2H |
|
Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... |
OMIM:266200 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Atrial Septal Defect 8 |
|
Anomalous pulmonary venous return |
OMIM:614433 |
Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Handgrip myotonia, Percussion-induced rapid rolling muscle contractions, Myotonia |
ORPHA:324442 |
Episodic Ataxia, Type 2 |
|
Myotonia |
OMIM:108500 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, T... |
OMIM:619644 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Abnormal lung lobation, Anomalous pulmonary venous return, Respiratory ... |
ORPHA:1120 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Cyanosis, Crazy paving pattern, Crackles, Dyspnea, In... |
ORPHA:747 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Hypokalemic Periodic Paralysis |
|
Myotonia |
ORPHA:681 |
Isotretinoin-Like Syndrome |
|
Patent ductus arteriosus, Abnormal aortic arch morphology, Conotruncal defect, Hypocalcemia, Abno... |
ORPHA:2306 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Increased serum iron, Elevated hepatic iron concentration |
OMIM:206100 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Distal Myopathy, Tateyama Type |
|
Percussion-induced rapid rolling muscle contractions |
ORPHA:488650 |
Myofibrillar Myopathy 10 |
|
Percussion myotonia |
OMIM:619040 |
Atrial Septal Defect, Sinus Venosus Type |
|
Dyspnea, Anomalous pulmonary venous return, Exertional dyspnea, Stroke, Pulmonary arterial hypert... |
ORPHA:99105 |
Myotonia Permanens |
|
Myotonia |
ORPHA:99735 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia |
ORPHA:163596 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... |
ORPHA:848 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Partial Atrioventricular Septal Defect |
|
Recurrent respiratory infections, Transient ischemic attack, Patent ductus arteriosus, Anomalous ... |
ORPHA:1330 |
Episodic Ataxia Type 1 |
|
Myotonia |
ORPHA:37612 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Ataxia, Cardiomegaly, Unsteady gait, Limb ataxia, Gait ataxia, Cardiomyopathy, Gait disturbance, ... |
OMIM:619259 |
Tricuspid Atresia |
|
Cyanosis, Coarctation of aorta, Transposition of the great arteries, Pulmonary artery atresia, Pe... |
ORPHA:1209 |
Atrial Septal Defect, Coronary Sinus Type |
|
Cyanosis, Transient ischemic attack, Pneumonia, Increased pulmonary vascular resistance, Dyspnea,... |
ORPHA:99104 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum iron |
OMIM:604250 |
Pulmonary Hypertension, Primary, 1 |
|
Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial medial hypertrophy, Pulmonar... |
OMIM:178600 |
Double Outlet Right Ventricle |
|
Cyanosis, Tachypnea, Double outlet right ventricle, Coarctation of aorta, Hypocalcemia, Pulmonary... |
ORPHA:3426 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Zebra Body Myopathy |
|
Handgrip myotonia |
ORPHA:97240 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Heterotaxy, Visceral, 4, Autosomal |
|
Dextrotransposition of the great arteries, Right aortic arch, Interrupted inferior vena cava with... |
OMIM:613751 |
Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Cholestasis, Bacterial endocarditi... |
ORPHA:615 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Patent ductus arteriosus, Tachypnea, Hyperhomocystinem... |
OMIM:614857 |
Joubert Syndrome 7 |
|
Central apnea, Tachypnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:611560 |
Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Myotonia |
ORPHA:391307 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Waddling gait, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Di... |
OMIM:300280 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Cyanosis, Patent ductus arteriosus, Arteria lusoria, Abnormal a... |
ORPHA:99050 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Pulmonary arterial hypertension, Constipation, Decreased serum iron, EEG abnormality |
ORPHA:391372 |
Myotonic Dystrophy 1 |
|
Myotonia |
OMIM:160900 |
Joubert Syndrome 30 |
|
Tachypnea, Apnea |
OMIM:617622 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Stroke, Total anomalous pulmonary venous r... |
ORPHA:494424 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Sple... |
OMIM:612541 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Limb ataxia, Truncal ataxia, Hypertrophic cardiomyopathy |
OMIM:619051 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Patent ductus arteriosus, Tachypnea |
OMIM:616501 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia |
OMIM:618398 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return |
ORPHA:2184 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachypnea, Elevated circulating creatinine concentration, Hypoxemia, Respiratory failure, Hyperbi... |
ORPHA:542323 |
Hereditary Spherocytosis |
|
Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia... |
ORPHA:822 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Cerebral arteriovenous malformation, Venous varicosities of celiac and mesenteric vessels, Spinal... |
OMIM:187300 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Tachypnea, Respiratory insufficiency, Respiratory failure, Hyperglycinemia |
OMIM:614299 |
Hemochromatosis, Type 2A |
|
Increased circulating ferritin concentration, Increased serum iron |
OMIM:602390 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Cirrhosis, Hepatocellular carcinoma, As... |
OMIM:235200 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Gracile Syndrome |
|
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... |
ORPHA:53693 |
Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis, Right aortic arch, Pulmonary artery hypoplasia, Interrupted inferior vena cava with azy... |
OMIM:616749 |
Myotonic Dystrophy 2 |
|
Handgrip myotonia, Myotonia |
OMIM:602668 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Cyanosis, Partial anomalous pulmonary venous return, Elevated circulating creatinine concentratio... |
OMIM:617478 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Myotonia |
OMIM:615491 |
Tempi Syndrome |
|
Hypoxemia, Transudative pleural effusion, Intracranial hemorrhage, Abnormality of the pulmonary v... |
ORPHA:284227 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Decreased serum iron |
OMIM:212050 |
Citrullinemia Type I |
|
Elevated plasma citrulline, Tachypnea, Hyperammonemia |
ORPHA:247525 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Myotonia |
ORPHA:589821 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Macrovesicular hepatic steatosis, Cardiomegaly |
OMIM:600649 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Elevated circulating acylcarnitine concentration, Tachypnea, Respiratory failure, Abnormal circul... |
OMIM:615838 |
Richieri Costa-Da Silva Syndrome |
|
Handgrip myotonia, Myotonia of the upper limb |
ORPHA:3101 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation |
OMIM:606069 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Tachypnea |
OMIM:245050 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Inability to walk, Abnormal atrioventricular valve morphology, Mitral valve prolaps... |
ORPHA:324410 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr... |
ORPHA:79277 |
Trichohepatoenteric Syndrome 2 |
|
Decreased serum iron, Diarrhea, Chronic diarrhea, Bloody diarrhea, Colitis |
OMIM:614602 |
Hyperkalemic Periodic Paralysis |
|
Myotonia |
ORPHA:682 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia |
OMIM:616278 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pulmonary artery dilatation, Neonatal respiratory distress, Patent ductus arteriosus, Pulmonary a... |
OMIM:265380 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea, Hyperammonemia |
ORPHA:79242 |
Diamond-Blackfan Anemia 20 |
|
Total anomalous pulmonary venous return |
OMIM:618313 |
Propionic Acidemia |
|
Apnea, Cerebellar hemorrhage, Tachypnea, Hyperammonemia, Hyperglycinemia |
OMIM:606054 |
Joubert Syndrome 9 |
|
Apnea, Episodic tachypnea |
OMIM:612285 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Episodic tachypnea, Inc... |
ORPHA:26793 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Myotonia |
ORPHA:98855 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Iron deficiency anemia, Cardiomegaly |
ORPHA:99931 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Myotonia |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Myotonia |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Myotonia |
ORPHA:98853 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean |
OMIM:604320 |
Unilateral Polymicrogyria |
|
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation, Stroke |
ORPHA:268943 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Respiratory arrest, Tachypnea, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:201475 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Cardiomyopathy, Endocardial fibroel... |
OMIM:212140 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Ascites |
OMIM:253250 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Anomalous pulmonary venous return, Respiratory insufficiency |
ORPHA:2311 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly |
OMIM:614702 |
Tetanus |
|
Respiratory distress, Tachypnea, Elevated circulating creatine kinase concentration |
ORPHA:3299 |
Idiopathic Copper-Associated Cirrhosis |
|
Increased circulating copper concentration, Decreased circulating ceruloplasmin concentration |
ORPHA:209919 |
Coronary Arterial Fistula |
|
Orthopnea, Patent ductus arteriosus, Tachypnea, Coronary artery aneurysm, Pulmonary arterial hype... |
ORPHA:2041 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:99125 |
Aceruloplasminemia |
|
Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron |
OMIM:604290 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
EMG: myotonic runs |
ORPHA:353 |
Heterotaxy, Visceral, 6, Autosomal |
|
Right aortic arch, Double outlet right ventricle, Total anomalous pulmonary venous return, Transp... |
OMIM:614779 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Stroke, Aor... |
OMIM:175050 |
Schwartz-Jampel Syndrome, Type 1 |
|
Percussion myotonia |
OMIM:255800 |
Hyperzincemia With Functional Zinc Depletion |
|
Increased serum zinc, Diarrhea |
OMIM:601979 |
Multifocal Atrial Tachycardia |
|
Dyspnea, Tachypnea |
ORPHA:3282 |
Meacham Syndrome |
|
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Coarctation of aorta, Right ... |
OMIM:608978 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperglutaminemia, Low plasma citrulline, Tachypnea, Hyperammonemia, Hyperprolinemia, Hypoornithi... |
OMIM:615751 |
Tetraamelia Syndrome 2 |
|
Bilateral lung agenesis, Hypoplastic pulmonary veins |
OMIM:618021 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hepatic steatosis, Ataxia, Cardiomegaly |
ORPHA:42 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Double Outlet Left Ventricle |
|
Cyanosis, Abnormal coronary artery course, Pulmonary artery stenosis, Patent ductus arteriosus, T... |
ORPHA:3427 |
Refsum Disease, Classic |
|
Cardiomyopathy, Ataxia, Cardiomegaly |
OMIM:266500 |
Atrial Septal Defect, Ostium Primum Type |
|
Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi... |
ORPHA:99106 |
Hsd10 Disease, Infantile Type |
|
Choreoathetosis, Loss of ambulation, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Chops Syndrome |
|
Patent ductus arteriosus, Anomalous pulmonary venous return, Aspiration pneumonia, Tracheomalacia... |
OMIM:616368 |
Atypical Rett Syndrome |
|
Sudden episodic apnea, Episodic tachypnea, Abnormal pattern of respiration |
ORPHA:3095 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Episodic tachypnea, Aspiration pneumonia |
ORPHA:79264 |
Holt-Oram Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology, Anomalous pulmonary venous return |
ORPHA:392 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Akinesia, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Ascites... |
OMIM:608013 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Episodic tachypnea |
ORPHA:163961 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Pulmonary arterial hypertension, Tachypnea, Vascular dilatation |
OMIM:613320 |
Mednik Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
ORPHA:171851 |
Joubert Syndrome 3 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:608629 |
Cholera |
|
Hyponatremia, Tachypnea, Abnormal blood ion concentration, Hypokalemia, Stroke, Hypocalcemia, Asp... |
ORPHA:173 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Thoracic aortic aneurysm, Patent ductus arteriosus, Partial anomalous pulmonary venous return, An... |
OMIM:619657 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... |
ORPHA:465508 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Decreased transferrin saturation, Increased circulating ferritin concentration, Increased serum i... |
ORPHA:300298 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Spontaneous, recurrent epistaxis, Hepatic arteriovenous malformation, Cyanosis, Transient ischemi... |
OMIM:600376 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p... |
ORPHA:1329 |
Oligomeganephronia |
|
Pulmonary venous occlusion, Elevated circulating creatinine concentration, Pulmonary hypoplasia |
ORPHA:2260 |
Pyruvate Dehydrogenase Deficiency |
|
Dyspnea, Tachypnea |
ORPHA:765 |
Malignant Hyperthermia Of Anesthesia |
|
Hypercapnia, Tachypnea, Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise |
ORPHA:423 |
Meacham Syndrome |
|
Patent ductus arteriosus, Abnormal lung lobation, Anomalous pulmonary venous return, Conotruncal ... |
ORPHA:3097 |
Right Atrial Isomerism |
|
Aortopulmonary collateral arteries, Abnormal lung lobation, Total anomalous pulmonary venous retu... |
OMIM:208530 |
Goodpasture Syndrome |
|
Cyanosis, Crackles, Nodular pattern on pulmonary HRCT, Increased DLCO, Tachypnea, Increased blood... |
OMIM:233450 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Percussion myotonia |
OMIM:620275 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Ataxia, Cardiomegaly |
OMIM:268800 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Ce... |
OMIM:602782 |
Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia |
OMIM:613280 |
Zinc Deficiency, Transient Neonatal |
|
Decreased serum zinc |
OMIM:608118 |
Beta-Thalassemia Intermedia |
|
Pulmonary arterial hypertension, Abnormality of iron homeostasis, Elevated hepatic iron concentra... |
ORPHA:231222 |
Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Recurrent respiratory infections, Tachypnea, Pulmonary fibrosis, Elevated circulating C-reactive ... |
OMIM:615934 |
Dietary Iron Overload Disease |
|
Increased circulating ferritin concentration, Peritonitis, Elevated transferrin saturation, Eleva... |
ORPHA:139507 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Dyspnea, Tachypnea, Hypophosphatemia |
OMIM:239200 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... |
ORPHA:79345 |
Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
Aortic Arch Interruption |
|
Respiratory distress, Cyanosis, Patent ductus arteriosus, Tachypnea, Double outlet right ventricl... |
ORPHA:2299 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Elevated circulating creatine kinase concentration, Pneumonia, R... |
ORPHA:36234 |
Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Hyperammonemia, Hyperventilation |
OMIM:253270 |
Idiopathic Camptocormia |
|
Myotonia |
ORPHA:1320 |
Abetalipoproteinemia |
|
Hepatomegaly, Reticulocytosis, Broad-based gait, Ataxia, Cardiomegaly, Acanthocytosis, Dysmetria,... |
ORPHA:14 |
15Q11.2 Microdeletion Syndrome |
|
Tetralogy of Fallot, Total anomalous pulmonary venous return, Coarctation of aorta |
ORPHA:261183 |
Cocaine Intoxication |
|
Respiratory distress, Aortic dissection, Pulmonary edema, Elevated circulating creatine kinase co... |
ORPHA:90068 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Episodic tachypnea |
ORPHA:2872 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Inability to walk, Tip-toe gait, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hepatic steatosis, Cardiomegaly |
OMIM:255120 |
Congenital Disorder Of Glycosylation, Type Iiq |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
OMIM:617395 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Cardiomegaly, Limb ataxia, Cardiomyopathy, Truncal ataxia |
OMIM:105210 |
Stuve-Wiedemann Syndrome 1 |
|
Myotonia |
OMIM:601559 |
Ethylene Glycol Poisoning |
|
Cyanosis, Episodic respiratory distress, Tachypnea, Hyperkalemia, Hypocalcemia, Abnormal pattern ... |
ORPHA:31826 |
Aceruloplasminemia |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De... |
ORPHA:48818 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Huppke-Brendel Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
OMIM:614482 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Cyanosis, Ascending aorta hypoplasia, Neonatal asphyxia, Wheezing, Dyspnea,... |
ORPHA:141127 |
Cog2-Cdg |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
ORPHA:435934 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Abnormal pattern of respiration, T... |
ORPHA:3008 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Handgrip myotonia |
ORPHA:438216 |
Trichohepatoenteric Syndrome 1 |
|
Increased serum iron, Hypoalbuminemia, Hypermethioninemia, Abnormality of iron homeostasis, Intra... |
OMIM:222470 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypert... |
ORPHA:57777 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertroph... |
ORPHA:79330 |
Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Difficulty walking, Cardiomegaly |
OMIM:232300 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ascites, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
Biotinidase Deficiency |
|
Tachypnea, Apnea, Hyperammonemia |
OMIM:253260 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Beta-Ketothiolase Deficiency |
|
Tachypnea, Hyperuricemia, Hyperammonemia, Cough |
ORPHA:134 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum iron, Decreased circulating carnitine concentration, Decreased serum zinc, Consti... |
ORPHA:89842 |
Beta-Thalassemia Major |
|
Dyspnea, Diarrhea, Abnormality of iron homeostasis |
ORPHA:231214 |
Irida Syndrome |
|
Decreased circulating copper concentration |
ORPHA:209981 |
Heterotaxy, Visceral, 12, Autosomal |
|
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Hypoplastic aortic arch, Dex... |
OMIM:619702 |
Desmosterolosis |
|
Patent ductus arteriosus, Anomalous pulmonary venous return |
ORPHA:35107 |
Schwartz-Jampel Syndrome |
|
Myotonia |
ORPHA:800 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Spastic gait |
OMIM:230000 |
Joubert Syndrome With Oculorenal Defect |
|
Tachypnea, Apnea |
ORPHA:2318 |
Desmosterolosis |
|
Patent ductus arteriosus, Abnormal circulating cholesterol concentration, Total anomalous pulmona... |
OMIM:602398 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Hyperglycinemia, Increased total iron binding capa... |
ORPHA:309854 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Ataxia, Cardiomegaly, Inability to walk, Gait disturbance |
OMIM:618143 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Familial Benign Copper Deficiency |
|
Decreased circulating copper concentration |
ORPHA:1551 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Hypsarrhythmia, EEG with frontal sharp slow waves, EEG abnormality, Constipation, High noncerulop... |
ORPHA:457351 |
Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
Porphyria Cutanea Tarda |
|
Decreased circulating hepcidin concentration, Abnormal circulating porphyrin concentration, Incre... |
ORPHA:101330 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Cardiac Diverticulum |
|
Abnormal coronary artery origin, Patent ductus arteriosus, Pulmonary artery stenosis, Partial ano... |
ORPHA:1686 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Abnormal circulating creatine kinase concentration, Abnormal circulating copper concentration |
ORPHA:521411 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
Joubert Syndrome |
|
Apnea, Episodic tachypnea, Abnormal pattern of respiration |
ORPHA:475 |
Thyrotoxic Periodic Paralysis |
|
Myotonia |
ORPHA:79102 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Intrahepatic cholestasis, Dilated cardiomy... |
OMIM:614921 |
Copper Deficiency, Familial Benign |
|
Decreased circulating copper concentration |
OMIM:121270 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Pneumothorax, Abnormal circulating ceruloplasmin concentration, Abnormal ci... |
OMIM:620306 |
Heterotaxy, Visceral, 5, Autosomal |
|
Bilateral trilobed lung, Patent ductus arteriosus, Partial anomalous pulmonary venous return, Dex... |
OMIM:270100 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Syndromic Diarrhea |
|
Gastritis, Bloody diarrhea, Colitis, Abnormality of iron homeostasis, Intractable diarrhea |
ORPHA:84064 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Ataxia, Cardiomegaly, Adenoiditis, Splenomegaly, Recurrent tonsillitis, Loss of amb... |
ORPHA:581 |
Juvenile Polyposis Syndrome |
|
Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistaxis, Cerebral arteriovenous ma... |
ORPHA:2929 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
EMG: myotonic runs |
ORPHA:206549 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy... |
OMIM:242150 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, Respiratory fai... |
OMIM:613658 |
Fucosidosis |
|
Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly |
ORPHA:349 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Tachypnea, Apnea, Hyperuricemia, Hyperammonemia |
ORPHA:20 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Spontaneous pneumothorax, Pulmonary arteriovenous malformation, Pulmonary a... |
OMIM:606721 |
Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Recurrent respiratory infections, Apnea, Tachypnea, Recurrent aspiration pneumonia, Chronic lung ... |
ORPHA:397715 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Lipid accumulation in hepatocytes, Hepatic ca... |
OMIM:608836 |
Pauci-Immune Glomerulonephritis |
|
Dyspnea, Elevated circulating creatinine concentration, Arteritis, Abnormality of the pulmonary v... |
ORPHA:93126 |
Histiocytoid Cardiomyopathy |
|
Cyanosis, Tachypnea, Stroke-like episode, Cough, Pulmonary edema |
ORPHA:137675 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Crackles, Tachypnea, Hyperkalemia, Hyperphosp... |
ORPHA:466650 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Muscle mounding |
OMIM:613327 |
Cat Eye Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Total anomalous pulmonary venous return |
OMIM:115470 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Slc39A8-Cdg |
|
Hypomanganesemia, Sudden episodic apnea, Abnormal blood zinc concentration, Hypsarrhythmia |
ORPHA:468699 |
Serotonin Syndrome |
|
Tachypnea |
ORPHA:43116 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hyperornithinemia, Tachypnea, Abnormal circulating citrulline concentration, Hyperammonemia |
ORPHA:415 |
Peters Plus Syndrome |
|
Patent ductus arteriosus, Abnormal pulmonary vein morphology, Abnormality of the pulmonary artery |
ORPHA:709 |
Cardiac-Urogenital Syndrome |
|
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Scimitar anomaly, Pulmonary ... |
OMIM:618280 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:308552 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Scorpion Envenomation |
|
Increased circulating NT-proBNP concentration, Tachypnea, Hypokalemia, Stroke, Increased circulat... |
ORPHA:466677 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Hepatic calcification, Cardiomyopathy, Abnormal myocardium morphology... |
ORPHA:228308 |
Steinert Myotonic Dystrophy |
|
Handgrip myotonia, Myotonia of the upper limb, Myotonia of the jaw, Myotonia with warm-up phenomenon |
ORPHA:273 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration... |
OMIM:619991 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Tip-toe gait, Hypertrophic cardiomyopathy, Enlarged kidney |
OMIM:252500 |
Osteogenesis Imperfecta, Type Vii |
|
Absent pulmonary artery, Hypoplastic pulmonary veins |
OMIM:610682 |
Joubert Syndrome 2 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:608091 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Coronary artery fistula, Patent ductus arteriosus, Partial anomalous pulmonary venous return |
OMIM:619343 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
Aicardi-Goutières Syndrome |
|
Cardiomegaly, Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chronic lymphatic leukemi... |
ORPHA:51 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
Down Syndrome |
|
Pulmonary artery stenosis, Patent ductus arteriosus, Partial anomalous pulmonary venous return, D... |
OMIM:190685 |
Joubert Syndrome 1 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:213300 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Abnormal thymus morphology, Cardiomegaly |
ORPHA:2463 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Abnormality of the hepatic vasculature... |
ORPHA:1677 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Decreased serum zinc, Diarrhea |
OMIM:201100 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Cardiomegaly, Inability to walk, Difficulty walking, Left ventricular hypertrophy, ... |
ORPHA:365 |
Hardikar Syndrome |
|
Pulmonary artery stenosis, Patent ductus arteriosus, Partial anomalous pulmonary venous return, C... |
OMIM:301068 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hypouricemia, Decreased nerve conduction veloc... |
OMIM:277900 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia |
OMIM:617093 |
Ogden Syndrome |
|
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... |
OMIM:300855 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Patent ductus arteriosus, Total anomalous pulmonary venous return |
ORPHA:487796 |
Lymphedema-Distichiasis Syndrome |
|
Varicose veins, Patent ductus arteriosus, Abnormality of the pulmonary vasculature |
ORPHA:33001 |
Bohring-Opitz Syndrome |
|
Cardiomegaly, Inability to walk, Abnormal cardiac septum morphology, Cholelithiasis, Annular panc... |
ORPHA:97297 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, Cardiomega... |
ORPHA:75565 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Ataxia, Cardiomegaly, L... |
OMIM:300967 |
Orofaciodigital Syndrome Type 6 |
|
Apnea, Episodic tachypnea |
ORPHA:2754 |
Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
Joubert Syndrome 5 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:610188 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Total anomalous pulmonary venous return |
OMIM:609945 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Decreased serum zinc, Esophagitis |
ORPHA:541423 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Microcytic anemia, Cardiomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia |
OMIM:256040 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal pancreas morphology, Hepatoblastoma, Hypertrop... |
ORPHA:116 |
Arima Syndrome |
|
Dyspnea, Tachypnea |
OMIM:243910 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Decreased serum iron, Pulmonary embolism, Dyspnea, Increased blood urea nitrogen, Unconjugated hy... |
ORPHA:447 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Recurrent respiratory infections, Internal carotid artery dissection, Cerebral arteriovenous malf... |
OMIM:150230 |
Orofaciodigital Syndrome Type 2 |
|
Central retinal vessel vascular tortuosity, Tachypnea, Apnea |
ORPHA:2751 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Tachypnea, Hyperammonemia, Coarctation of aorta, Bilateral superior vena cava, Pulmonary edema |
OMIM:220111 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Partial anomalous pulmonary venous return |
OMIM:301044 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Apnea, Decreased serum iron, Breathing dysregulation, Constipation, Gastroesopha... |
ORPHA:438213 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
Immunodeficiency 47 |
|
Hypercholesterolemia, Chronic diarrhea, Decreased circulating copper concentration, Exocrine panc... |
OMIM:300972 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Hepatoblastoma, Enlarged kidney |
OMIM:130650 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Neonatal respiratory distress, Patent ductus arteriosus, Abnormal lung lobation, Total anomalous ... |
OMIM:312870 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Focal Dermal Hypoplasia |
|
Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus, Abnormality of the pulmonary vasculature |
ORPHA:2092 |
Williams Syndrome |
|
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe... |
ORPHA:904 |
Acute Transverse Myelitis |
|
Paralytic ileus, Decreased circulating copper concentration, Constipation, Gastroparesis |
ORPHA:139417 |
Occipital Horn Syndrome |
|
Decreased circulating ceruloplasmin concentration, Chronic diarrhea, Decreased circulating copper... |
OMIM:304150 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot |
ORPHA:3472 |
Singleton-Merten Syndrome 1 |
|
Waddling gait, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular ... |
OMIM:182250 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Gastrointestinal inflammation, Decreased plasma total carnitine, Decreased serum zinc, Gastroesop... |
ORPHA:79408 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Myocardial calcification, Hepatic ca... |
ORPHA:51608 |
Wrinkly Skin Syndrome |
|
Emphysema, High nonceruloplasmin-bound serum copper |
ORPHA:2834 |