Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Pallor, Persistence of hemoglobin F, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Anemia, Steroid-responsive anemia |
OMIM:618312 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
Diamond-Blackfan Anemia-Like |
|
Pure red cell aplasia, Steroid-responsive anemia |
OMIM:617911 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Hypertriglyceridemia... |
ORPHA:71529 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Pallor, Anisocytosis, H... |
OMIM:615631 |
Hb Bart'S Hydrops Fetalis |
|
Polyhydramnios, Anemia, Hydrops fetalis, Hydrocephalus, Pallor, Oligohydramnios, Hepatomegaly, Ab... |
ORPHA:163596 |
Thyroid Hormone Metabolism, Abnormal, 1 |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Increased circula... |
OMIM:609698 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia, Pallor |
ORPHA:228312 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Acute Myelomonocytic Leukemia |
|
Anemia, Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia |
ORPHA:517 |
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia, Intrauterine growth retardation |
ORPHA:2802 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... |
ORPHA:75564 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Jaundice, Erythroid hyperplasia, Reticulocytosis, Pallor, Nonimmune hydrops fetal... |
OMIM:266200 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Decreased body weight, Pulmonic stenosis, Bicuspid aortic valve, Failure to thrive, Ventricular e... |
OMIM:616201 |
X-Linked Sideroblastic Anemia |
|
Anemia, Elevated hepatic transaminase, Splenomegaly, Pallor |
ORPHA:75563 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, L... |
ORPHA:293964 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Poikilocytosis, Decreased mean corpuscular volume, Pallor, Hepatomegaly, Elevated hepatic... |
OMIM:615234 |
Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hyperinsulinemia, Contractures of the large joints, Increased circulating f... |
ORPHA:2457 |
Beta-Thalassemia |
|
Anemia, Hepatitis, Skin ulcer, Pallor, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Abnormal h... |
ORPHA:848 |
Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
Atrial Standstill |
|
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... |
ORPHA:1344 |
Transient Neonatal Diabetes Mellitus |
|
Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Small for gestationa... |
ORPHA:99886 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia, Aggressive behavior, Polyphagia, Hyperlipidemia, Hyperglycemia, Obesity |
ORPHA:329249 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Ketotic hypoglycemia, Smal... |
ORPHA:324575 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly |
OMIM:312500 |
Hyperthyroxinemia, Familial Dysalbuminemic |
|
Increased circulating free T4 concentration, Euthyroid hyperthyroxinemia |
OMIM:615999 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Failure to thrive, H... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Failure to thrive, H... |
ORPHA:71526 |
Leishmaniasis |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Skin ulcer, Elevated hepatic transaminase, Pa... |
ORPHA:507 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Primary Myelofibrosis |
|
Anemia, Petechiae, Purpura, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Pallor, Ecchymosis,... |
ORPHA:824 |
Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia |
OMIM:614896 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemic pallor, Anemia of ... |
OMIM:300751 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Cognitive impairment, Increased resting energy expenditure, Polyphagia, Attenti... |
ORPHA:369873 |
Fetal Parvovirus Syndrome |
|
Anemia, Hydrops fetalis, Thrombocytopenia, Ascites, Increased nuchal translucency, Intrauterine g... |
ORPHA:295 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... |
OMIM:133180 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Right ventricular dilatation, Left ventri... |
OMIM:614022 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Preeclampsia/Eclampsia 1 |
|
Edema, Thrombocytopenia, Elevated hepatic transaminase, Intrauterine growth retardation |
OMIM:189800 |
Thyroid Dyshormonogenesis 6 |
|
Hypothyroidism, Congenital hypothyroidism |
OMIM:607200 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Jaund... |
OMIM:194380 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Sideroblastic anemia, Elevated hepatic transaminase, Hepatomegaly, Pallor |
OMIM:613561 |
Congenital Atransferrinemia |
|
Anemia, Abnormality of the pancreas |
ORPHA:1195 |
Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... |
OMIM:617280 |
Familial Thyroid Dyshormonogenesis |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:95716 |
Hemoglobin H Disease |
|
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Hypothyroidism, Cardiomyopathy |
OMIM:619647 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Pallor, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:56425 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Decreased mean corpuscular volume, Anemia, Sideroblastic anemia, Hypochromia |
OMIM:205950 |
Pick Disease Of Brain |
|
Diminished motivation, Frontotemporal dementia, Emotional blunting, Apathy, Polyphagia, Disinhibi... |
OMIM:172700 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Cirrhosis, Abnormality of the liver, Decreased liver function, Increased HbA2 hem... |
ORPHA:231222 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... |
OMIM:616249 |
Elliptocytosis 1 |
|
Hemolytic anemia, Elliptocytosis, Jaundice, Pallor, Splenomegaly |
OMIM:611804 |
Frontotemporal Dementia |
|
Diminished motivation, Frontotemporal dementia, Frontal lobe dementia, Apathy, Dementia, Polyphag... |
OMIM:600274 |
Timothy Syndrome |
|
Hypothyroidism, Patent foramen ovale, Ventricular septal defect, Prolonged QT interval, Cardiomeg... |
OMIM:601005 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Left ventricular hypertrophy, Congestive heart failure, Failure to thriv... |
OMIM:619048 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Pituitary Dwarfism With Large Sella Turcica |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:262710 |
Thyroid Dyshormonogenesis 2A |
|
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Decreased circulating T... |
OMIM:274500 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Pall... |
OMIM:300908 |
Alpha-Thalassemia |
|
Anemia, Hydrops fetalis, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemo... |
ORPHA:846 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Hypothyroidism, Impaired growth-hormone response to insulin stimulation test |
OMIM:262700 |
Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Pallor |
ORPHA:90064 |
Huntington Disease |
|
Aggressive behavior, Memory impairment, Weight loss, Abnormal circulating cholesterol concentrati... |
ORPHA:399 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Jaundice, Pancytopenia, Pallor, Hepatomegaly, Increased mean corpuscular vo... |
OMIM:613839 |
Cyanosis, Transient Neonatal |
|
Anemia, Jaundice, Reticulocytosis, Hepatomegaly, Methemoglobinemia |
OMIM:613977 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Lymphedema, Pallor, Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Leuk... |
ORPHA:3226 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Neonatal death, Hepatosplenomegaly |
OMIM:273680 |
Hereditary Spherocytosis |
|
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolyti... |
ORPHA:822 |
Idiopathic Congenital Hypothyroidism |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:95717 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Hydrops fetalis, Reticulocytosis, Poikilocytosis, Abnormal e... |
ORPHA:766 |
Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism |
OMIM:300123 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Jaundice, Edema, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutr... |
OMIM:603552 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Decreased circulating free... |
ORPHA:276575 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
Obesity |
|
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio |
OMIM:601665 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Maternal diabetes, Type I ... |
ORPHA:276580 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... |
OMIM:237800 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... |
ORPHA:276556 |
Congenital Toxoplasmosis |
|
Anemia, Ventriculomegaly, Jaundice, Hydrocephalus, Elevated hepatic transaminase, Lymphadenopathy... |
ORPHA:858 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Pallor, Decreased mean corpuscular volume, Hepatosplenomegaly |
OMIM:611590 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Elevated hepatic transaminase, Poikilocytosis, Abnormal erythrocyte morphology, Anisocyto... |
ORPHA:98870 |
Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Hypersplenism... |
ORPHA:64743 |
Multiple Symmetric Lipomatosis |
|
Multiple lipomas, Abnormal adipose tissue morphology, Insulin resistance |
ORPHA:2398 |
Evans Syndrome |
|
Petechiae, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Pallor, Autoimmune thr... |
ORPHA:1959 |
Transaldolase Deficiency |
|
Anemia, Hydrops fetalis, Cirrhosis, Premature skin wrinkling, Hepatosplenomegaly, Edema, Thromboc... |
ORPHA:101028 |
Long Qt Syndrome 16 |
|
Perimembranous ventricular septal defect, T-wave alternans, Second degree atrioventricular block,... |
OMIM:618782 |
Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... |
OMIM:163800 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anemia, Dysplastic erythropoesis, Reticulocytopenia, Anisopoikilocytosis, Elevated hepatic transa... |
ORPHA:300298 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Hydrops Fetalis, Nonimmune |
|
Anemia, Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:236750 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Congenital hypothyroidism, Obesity |
ORPHA:88643 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Bradycardia, Sick sinus syndrome, Arrhythmia |
OMIM:617173 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Hypothyroidism, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inapprop... |
OMIM:300888 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Insulin resistance, Obesity, Polyphagia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Hypothyroidism, Ventricular hypertrophy, Right bundle branch block, T-wave inversion, Ventricular... |
ORPHA:263297 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Large for gestational age, Decrea... |
ORPHA:226313 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia, Neutropenia, Sp... |
OMIM:615285 |
Autoimmune Hemolytic Anemia |
|
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia, Pallor |
ORPHA:98375 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
Nephronophthisis |
|
Anemia |
ORPHA:655 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... |
OMIM:601419 |
Atrial Septal Defect 6 |
|
Atrial septal defect, Bradycardia, Atrial fibrillation |
OMIM:613087 |
Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Cirrhosis, Hypersplenism, Reduced hemoglobin A, Skin ulcer, Decreased mean corp... |
ORPHA:231226 |
Chromosome 5Q Deletion Syndrome |
|
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia |
OMIM:153550 |
Eosinophilia, Familial |
|
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia |
OMIM:131400 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Increased circulating free fatty acid level,... |
ORPHA:71212 |
Beta-Thalassemia Major |
|
Hepatic fibrosis, Cirrhosis, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased ... |
ORPHA:231214 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Megaloblastic anemia, Pallor |
ORPHA:49827 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Cyanosis, Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Pre... |
ORPHA:216694 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Granulocytopenia, Anemia, Hemophagocytosis, Hepatosplenomegaly |
OMIM:608898 |
Thyroid Dyshormonogenesis 3 |
|
Goiter, Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma |
OMIM:274700 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Elevated circulating thyroid-stimulating hormone concentration, Small for gestational age, Type I... |
OMIM:274300 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Cirrhosis, Jaundice, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatosplenome... |
OMIM:616860 |
Letterer-Siwe Disease |
|
Anemia, Jaundice, Pallor, Hepatosplenomegaly, Thrombocytopenia, Neutropenia |
OMIM:246400 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal natural killer cell count, Elevated hepatic transaminase, Abnormal B cell... |
ORPHA:331206 |
Leptin Receptor Deficiency |
|
Aggressive behavior, Emotional lability, Diabetes mellitus, Polyphagia, Abnormal eating behavior,... |
OMIM:614963 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
Fetal Iodine Syndrome |
|
Hypothyroidism |
ORPHA:1910 |
Autosomal Erythropoietic Protoporphyria |
|
Cirrhosis, Edema, Erythema, Decreased liver function, Cholelithiasis, Microcytic anemia |
ORPHA:79278 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:611783 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Hypopituitarism, Erythroid hyperplasia, Pallor, Hypoch... |
OMIM:600462 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:90673 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric ... |
OMIM:600858 |
Nphp3-Related Meckel-Like Syndrome |
|
Polyhydramnios, Abnormality of the pancreas, Oligohydramnios, Abnormal biliary tract morphology, ... |
ORPHA:3032 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... |
OMIM:301033 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617907 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect |
OMIM:616276 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Decreased body weight, Increased blood urea nitrogen, Failure to thrive, Hyperam... |
OMIM:620085 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Pericardial effusion, Failure to thrive, Hypertrophic cardiomyopathy, ... |
OMIM:614702 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Congestive heart failure, Myocardial fibrosis, Hypertrophic cardiomyopathy,... |
OMIM:617222 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hypothyroidism, Left ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Hyperlysinemia, Type I |
|
Anemia |
OMIM:238700 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Focal T2 hyperintense thalamic lesion, Splenomegaly, Macrocytic anemia |
OMIM:619046 |
Diffuse Neonatal Hemangiomatosis |
|
Polyhydramnios, Anemia, Hydrops fetalis, Hepatomegaly, Ascites, Thrombocytopenia |
ORPHA:2123 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Impaired sensitivity to thyroid hormone, Omphalocele, Congenital hypot... |
OMIM:614450 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Inguinal hernia, Tetralogy of Fallot, Abnormality of thyroid physiology |
OMIM:615542 |
Alpha-Heavy Chain Disease |
|
Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:100025 |
Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... |
ORPHA:101096 |
Mu-Heavy Chain Disease |
|
Anemia, Abnormal B cell count, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:100024 |
Tempi Syndrome |
|
Facial erythema, Increased hematocrit, Polycythemia, Transudative pleural effusion, Ascites |
ORPHA:284227 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Hypothyroidism, Patent foramen ovale, Decreased circulating free T4 concentration, Elevated circu... |
OMIM:225250 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:607616 |
Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, C... |
OMIM:601494 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa... |
ORPHA:35858 |
Acute Erythroid Leukemia |
|
Leukopenia, Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity |
ORPHA:318 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Patent foramen ovale, Bradycardia, Sick sinus syndrome |
OMIM:617182 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:363654 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity, Polyphagia |
OMIM:618406 |
Immunodeficiency 69 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly |
OMIM:618963 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Pedal edema, Abnormal mean corpuscular volume, Bone marrow hypocellularit... |
ORPHA:86839 |
Bdv Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... |
OMIM:619326 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Anemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly |
OMIM:613313 |
Hyperthyroxinemia, Dystransthyretinemic |
|
Euthyroid hyperthyroxinemia |
OMIM:145680 |
Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Po... |
OMIM:222100 |
Pearson Marrow-Pancreas Syndrome |
|
Anemia, Hydrops fetalis, Hepatic failure, Reticulocytopenia, Exocrine pancreatic insufficiency, R... |
OMIM:557000 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Elevated hepatic iron concentra... |
OMIM:206100 |
Cln3 Disease |
|
T-wave inversion, Left ventricular hypertrophy, Increased circulating androgen concentration, Bra... |
ORPHA:228346 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Anemia, Hepatomegaly, Dehydration |
ORPHA:28 |
Peripartum Cardiomyopathy |
|
Sinus tachycardia, Cardiogenic shock, Palpitations, Abnormality of thyroid physiology, Elevated j... |
ORPHA:563 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Hypothyroidism, Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentrati... |
OMIM:275100 |
Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Splenomegaly, Pallor |
ORPHA:90037 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Flexion contracture, Bradycardia, Dilated cardiomyopathy |
OMIM:618815 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Dilated third ventricle, Dry skin, Lateral ventricle dilatation, Cryptorchidism |
OMIM:619244 |
Panhypophysitis |
|
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... |
ORPHA:95513 |
Gne Myopathy |
|
Hypothyroidism, Cardiomyopathy |
ORPHA:602 |
Thyrotropin-Releasing Hormone Deficiency |
|
Hypothyroidism, Hypothalamic hypothyroidism |
OMIM:275120 |
Adenohypophysitis |
|
Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def... |
ORPHA:95512 |
Protoporphyria, Erythropoietic, 1 |
|
Hepatic failure, Hemolytic anemia, Edema, Erythema, Cholelithiasis |
OMIM:177000 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect |
OMIM:616277 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... |
OMIM:262600 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity |
OMIM:615715 |
Dehydrated Hereditary Stomatocytosis |
|
Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Congenital hemolytic ... |
ORPHA:3202 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... |
ORPHA:51083 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:610539 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... |
OMIM:115200 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Left ventricular outflow tract obstruction, Biventricular hypertrophy, Hepatomegaly, Hy... |
ORPHA:860 |
Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Petechiae, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Thrombocytopenia |
OMIM:187800 |
Insulinoma |
|
Hyperinsulinemia, Nonketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, ... |
ORPHA:97279 |
Refractory Anemia |
|
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Bone marrow hypocellularity, Macrocytic ane... |
ORPHA:98826 |
Atrial Standstill 2 |
|
Dilatation of the ventricular cavity, Scarring, Atrial standstill, Atrial cardiomyopathy, Palpita... |
OMIM:615745 |
Tako-Tsubo Cardiomyopathy |
|
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... |
ORPHA:66529 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Elliptocytosis, Poikilocytosis, Decreased mean corpuscular volume, Anisocytosis, Pallor |
OMIM:616959 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Small for gestational age,... |
ORPHA:26793 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Anemia, Hepatomegaly, Pallor |
OMIM:246450 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Chronic lymphatic leukemia, Jaundice, Pallor, Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90033 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Hypogonadism |
OMIM:616113 |
Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroid... |
OMIM:603373 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... |
ORPHA:98849 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Elevated he... |
ORPHA:397715 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Hydrocephalus, Anemia |
OMIM:619302 |
Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congestive heart failure, Red... |
OMIM:604765 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
Atransferrinemia |
|
Abnormality of the liver, Hypochromic anemia |
OMIM:209300 |
Hawkinsinuria |
|
Hypothyroidism, Failure to thrive |
ORPHA:2118 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Thrombocytopenia, Macrothrombocytopenia |
OMIM:616176 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hyperthyroidism, Weight loss, Increased circulating T4 concentration, Decreased thyroid-stimulati... |
OMIM:613239 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Polyhydramnios, Dilated third ventricle, Lateral ventricle dilatation |
OMIM:617296 |
Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
Wolfram-Like Syndrome |
|
Primary gonadal insufficiency, Hypothyroidism, Male hypogonadism, Diabetes mellitus, Delayed pube... |
ORPHA:411590 |
Mpi-Cdg |
|
Hypothyroidism, Hyperinsulinemic hypoglycemia, Failure to thrive, Gastrointestinal hemorrhage, He... |
ORPHA:79319 |
Classic Mycosis Fungoides |
|
Splenomegaly, Skin ulcer, Edema, Lymphadenopathy, Erythema, Hepatomegaly, Dry skin, Abnormal lymp... |
ORPHA:2584 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc... |
OMIM:619041 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Hypogonadism, Diabetes mellitus, Abnormality of the thyroid gland, Arrhythmia, Bradycardia, Cardi... |
OMIM:609286 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia, Hydrops fetalis, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood ce... |
OMIM:613673 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly |
OMIM:224100 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dilated third ventricle, Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus, Elevated ... |
OMIM:613154 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:614082 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Aggressive behavior, Obesity, Polyphagia, Self-mutilation |
OMIM:616521 |
Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy, Erythema |
ORPHA:158014 |
Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis, Failure to thrive, Atrioventricular block, Joint contracture of the 5th finger, Bra... |
OMIM:614407 |
Progressive Familial Heart Block, Type Ib |
|
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
Paroxysmal Extreme Pain Disorder |
|
Bradycardia, Tachycardia |
OMIM:167400 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hydrops fetalis, Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythrop... |
OMIM:224120 |
Hemochromatosis, Type 3 |
|
Anemia, Cirrhosis, Purpura, Elevated hepatic transaminase, Lymphopenia, Neutropenia |
OMIM:604250 |
Idiopathic Pulmonary Hemosiderosis |
|
Iron deficiency anemia, Pallor, Hepatomegaly, Hepatosplenomegaly |
ORPHA:99931 |
Temple Syndrome |
|
Small for gestational age, Type II diabetes mellitus, Polyphagia, Recurrent hypoglycemia, Obesity |
ORPHA:254516 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia, Purpura |
ORPHA:3204 |
Macrosomia Adiposa Congenita |
|
Obesity, Polyphagia, Large for gestational age |
OMIM:248100 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Bradycardia |
OMIM:614654 |
Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Weight loss, Abnormal EKG, Congestive heart... |
ORPHA:330001 |
Sepsis In Premature Infants |
|
Anemia, Petechiae, Jaundice, Purpura, Pallor, Edema, Leukocytosis, Hepatomegaly, Decreased liver ... |
ORPHA:90051 |
Maternal Uniparental Disomy Of Chromosome 9 |
|
Hamstring contractures, Congenital hypothyroidism, Failure to thrive |
ORPHA:96183 |
D-Glyceric Aciduria |
|
Nonketotic hyperglycinemia, Increased circulating free fatty acid level, Hyperglycinemia |
ORPHA:941 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Pancytopenia, Pallor, Eosinophilia, Thrombocytopenia |
ORPHA:90045 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
American Trypanosomiasis |
|
Pallor, Edema, Lymphadenopathy, Hepatomegaly, Periorbital edema, Splenomegaly |
ORPHA:3386 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal lymph node morphology, Anemia, Petechiae, Hepatosplenomegaly, Leukocytosis, Extramedulla... |
OMIM:612840 |
Focal Segmental Glomerulosclerosis 1 |
|
Edema, Anemia |
OMIM:603278 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Pericardial effusion, Pancytopenia, Autoimmune thrombocytopenia, Pleural effu... |
OMIM:613011 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Petechiae, Edema, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytop... |
ORPHA:158029 |
Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Cyanosis, T-wave inversion, Pericardial effusion, Enlarged kidney, ST segment depres... |
OMIM:261740 |
Waldenström Macroglobulinemia |
|
Pedal edema, Leukemia, Normocytic anemia, Purpura, Abnormality of neutrophils, Pallor, Pleural ef... |
ORPHA:33226 |
Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty acid level |
OMIM:610768 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Polyhydramnios, Anemia, Oligohydramnios, Ascites, Splenomegaly |
ORPHA:1046 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Polyhydramnios, Dilated third ventricle, Lateral ventricle dilatation, Bilateral cryptorchidism, ... |
ORPHA:544488 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... |
OMIM:202700 |
Fucosidosis |
|
Hypothyroidism, Hyperhidrosis, Lipoatrophy, Acrocyanosis, Failure to thrive, Hepatomegaly, Cardio... |
ORPHA:349 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Weight loss, Elevated jugular venous pressure, Congestive heart failure, Testicul... |
ORPHA:465508 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly |
OMIM:615085 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Goiter, Impaired sensitivity to thyroid hormone, Increased circulating free T4 concentration, Inc... |
OMIM:188570 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Poikilocytosis, Anisocytosis, Cryptorchidism, Hypochromic anemia, Macrothrombocytopenia, Anemia o... |
ORPHA:67044 |
Majeed Syndrome |
|
Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Joint swelling, Ane... |
OMIM:609628 |
Cardiomyopathy, Dilated, 2G |
|
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... |
OMIM:619897 |
Retinitis Pigmentosa 27 |
|
Macular edema, Pallor |
OMIM:613750 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Obesity, Emotional lability, Polyphagia, Insulin-resistant diabetes mellitus, H... |
ORPHA:179494 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... |
OMIM:604772 |
Chronic Bilirubin Encephalopathy |
|
Prolonged neonatal jaundice, Abnormal thalamic MRI signal intensity, Hemolytic anemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Prolonged neonatal jaundice, Abnormal thalamic MRI signal intensity, Hemolytic anemia |
ORPHA:529799 |
Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Petechiae, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:611490 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Hypothyroidism, Anterior pituitary hypoplasia, Decreased circulating free T4 concentration, Reduc... |
OMIM:613038 |
Fumarase Deficiency |
|
Hepatic failure, Choroid plexus cyst, Polycythemia, Pallor, Cholestasis |
OMIM:606812 |
Reticular Dysgenesis |
|
Leukopenia, Anemia, Skin ulcer, Abnormality of neutrophils, Dehydration |
ORPHA:33355 |
Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... |
ORPHA:45453 |
Joubert Syndrome 26 |
|
Central hypothyroidism, Decreased response to growth hormone stimulation test, Panhypopituitarism |
OMIM:616784 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Splenomegaly, Flexion contracture, Failure to thrive, Prolonged QT interval, Li... |
OMIM:613327 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Jaund... |
OMIM:616689 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Ventricular hypertrophy, Cardiac arrest, Premature ventricular contraction, Ventricu... |
OMIM:212138 |
Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Cyanosis, Cardiac arrest, Hypoxemia, Bradycardia, Tachycardia |
ORPHA:70587 |
Infantile Liver Failure Syndrome 1 |
|
Anemia, Elevated hepatic transaminase, Hepatic steatosis, Macrocytic anemia, Hepatomegaly, Acute ... |
OMIM:615438 |
Cach Syndrome |
|
Lateral ventricle dilatation, Pancreatitis, T2 hypointense thalamus, Oligohydramnios, Hepatosplen... |
ORPHA:135 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Abnormality of thalamus morphology, T lymphocytopenia, Neoplasm of the pancreas, Elevated hepatic... |
ORPHA:2959 |
Dohle Bodies And Leukemia |
|
Leukocyte inclusion bodies, Acute myeloid leukemia, Anemia, Lymphedema |
OMIM:223350 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Anemia, Bone marrow hypocellularity, Thrombocytopenia, Dry skin |
OMIM:618116 |
Myelofibrosis |
|
Pallor, Purpura, Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Increased circulating prolactin concentration, Increased pituitary glycoprotein hormone alpha sub... |
ORPHA:90674 |
Precocious Puberty, Central, 1 |
|
Hypothyroidism, Elevated circulating follicle stimulating hormone level, Elevated circulating lut... |
OMIM:176400 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Dilated third ventricle |
OMIM:619725 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemic pallor, Edema, Anemia |
ORPHA:329971 |
Aceruloplasminemia |
|
Hepatic fibrosis, Cirrhosis, Hypochromic microcytic anemia, Abnormal thalamic MRI signal intensit... |
ORPHA:48818 |
Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Obesity, Polyphagia, Happy demeanor |
ORPHA:411515 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Splenomegaly |
OMIM:613101 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Pulmonary arterial hypertension, Hypothyroidism, Flexion contracture, Failure to thrive, Diabetes... |
ORPHA:391372 |
16P13.2 Microdeletion Syndrome |
|
Dilated third ventricle, Hydrocephalus, Ventriculomegaly, Cryptorchidism |
ORPHA:500055 |
Schaaf-Yang Syndrome |
|
Flexion contracture, Camptodactyly, Impulsivity, Polyphagia, Skin-picking, Obesity, Failure to th... |
OMIM:615547 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypothyroidism, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, Hypopituitarism... |
ORPHA:90065 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Petechiae, Reticulocytosis, Increased RBC distribution width, Thr... |
OMIM:314050 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a... |
OMIM:159550 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Immunodeficiency 102 |
|
Leukopenia, Anemia, Reduced natural killer cell count, Nodular regenerative hyperplasia of liver,... |
OMIM:301082 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... |
OMIM:613838 |
Potocki-Shaffer Syndrome |
|
Hypothyroidism, Delayed puberty, Hypertension |
ORPHA:52022 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Anemia, Macrocytic anemia, Dehydration, Hepatomegaly, Thrombocytopenia, Pancreatitis |
ORPHA:27 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Hydrops fetalis, Congenital thrombocytopenia, Hydrocele testis, Thrombocytopenia, Neutrop... |
OMIM:616738 |
Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Myocardial fibrosis, Pericard... |
ORPHA:75566 |
Obesity, Hyperphagia, And Developmental Delay |
|
Obesity, Polyphagia |
OMIM:613886 |
Congenital Macroglossia |
|
Hypothyroidism |
ORPHA:2430 |
Plummer-Vinson Syndrome |
|
Hypochromic microcytic anemia, Iron deficiency anemia, Pallor |
ORPHA:54028 |
Bardet-Biedl Syndrome 22 |
|
Obesity, Polyphagia, Large for gestational age |
OMIM:617119 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hyperparathyroidism, Anemia, Splenomegaly, Hepatomegaly |
OMIM:618107 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... |
OMIM:611818 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... |
OMIM:608758 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Pancreatitis, Hepatomegaly, Dehydration, Thrombocytopenia, Neutropenia, Splenomegaly |
ORPHA:79312 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia, Petechiae |
OMIM:616216 |
Non-Functioning Pituitary Adenoma |
|
Macroorchidism, Decreased response to growth hormone stimulation test, Anterior hypopituitarism, ... |
ORPHA:91349 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukopenia, Anemia, Jaundice, Elevated hepatic transaminase, Pallor, Edema, Acute pancreatitis, T... |
ORPHA:20 |
Pituitary Apoplexy |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:95613 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Pallor |
ORPHA:90036 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Irritability, Polyphagia, Weight loss |
OMIM:275000 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Hemochromatosis, Type 4 |
|
Hepatic steatosis, Anemia, Hepatomegaly, Cirrhosis |
OMIM:606069 |
Erythrocytosis, Familial, 2 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:263400 |
Li-Campeau Syndrome |
|
Hypothyroidism, Ventricular septal defect, Atrial septal defect, Patent foramen ovale |
OMIM:619189 |
Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... |
OMIM:609621 |
Sheehan Syndrome |
|
Abnormal size of pituitary gland, Gonadotropin deficiency, Decreased serum estradiol, Decreased c... |
ORPHA:91355 |
Brugada Syndrome |
|
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... |
ORPHA:130 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... |
OMIM:612098 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Dilated third ventricle, Cholelithiasis, Lateral ventricle dilatation |
ORPHA:464738 |
Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism |
OMIM:228355 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Situs inversus totalis, Dextrocardia, Goiter |
OMIM:617577 |
Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrial septal defect, Atrioventricular dissociation, Atrioventricular ... |
OMIM:614954 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Anemia, Oligohydramnios, Edema, Thrombocytopenia, Cholestasis, Hepatomegaly, Cryptorchidism, Decr... |
OMIM:608104 |
Wolman Disease |
|
Anemia, Hepatic failure, Bone-marrow foam cells, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:75233 |
Familial Dilated Cardiomyopathy |
|
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... |
ORPHA:217607 |
Schnitzler Syndrome |
|
Anemia, Lymphadenopathy, Leukocytosis, Hepatomegaly, Splenomegaly |
ORPHA:37748 |
Omenn Syndrome |
|
Anemia, Edema, Lymphadenopathy, Dry skin, Leukocytosis, Eosinophilia, Hepatomegaly, Splenomegaly,... |
ORPHA:39041 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Bradycardia, Atrial fibrillation |
OMIM:614302 |
Leigh Syndrome With Cardiomyopathy |
|
Decreased liver function, Anemia, Abnormality of thalamus morphology, Ventriculomegaly |
ORPHA:70474 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Precocious puberty, Increased circulating ACTH level, Decreased circulating cortisol level, Abnor... |
OMIM:614736 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... |
OMIM:613695 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:616435 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Endocardial fibroelastosis, Impaired myocardial contractility, Left ventricular diastolic dysfunc... |
OMIM:618052 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi... |
OMIM:218700 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, ... |
ORPHA:542306 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
Early-Onset Schizophrenia |
|
Diminished motivation, Abnormal emotion/affect behavior, Cognitive impairment, Suicidal ideation,... |
ORPHA:96369 |
Cinca Syndrome |
|
Anemia, Lymphedema, Hepatosplenomegaly, Lymphadenopathy, Leukocytosis, Eosinophilia |
OMIM:607115 |
Bardet-Biedl Syndrome 9 |
|
Polyphagia, Truncal obesity, Hyperglycemia, Obesity, Polydipsia |
OMIM:615986 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
ORPHA:163690 |
Congenital Enterovirus Infection |
|
Leukopenia, Anemia, Polyhydramnios, Hydrops fetalis, Ventriculomegaly, Hepatic failure, Abnormal ... |
ORPHA:292 |
Lymphatic Malformation 7 |
|
Anemia, Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural eff... |
OMIM:617300 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion, Intrauterine growth retardation |
OMIM:619057 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Alg8-Cdg |
|
Anemia, Hydrops fetalis, Ventriculomegaly, Cutis laxa, Premature skin wrinkling, Elevated hepatic... |
ORPHA:79325 |
Thyroid Dyshormonogenesis 1 |
|
Umbilical hernia, Hypothyroidism, Goiter |
OMIM:274400 |
Wilson Disease |
|
Anemia, Cirrhosis, Hepatitis, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Acute h... |
ORPHA:905 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Obesity, Polyphagia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia |
ORPHA:66628 |
Leptin Deficiency Or Dysfunction |
|
Obesity, Polyphagia |
OMIM:614962 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Pigment gallstones, Chronic hemol... |
ORPHA:232 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... |
OMIM:601154 |
Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... |
OMIM:612240 |
Rothmund-Thomson Syndrome, Type 1 |
|
Male hypogonadism, Hypothyroidism |
OMIM:618625 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cryptorchidism, Anemia, Intrauterine growth retardation, Oligohydramnios |
OMIM:620135 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... |
OMIM:619464 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Beta-Ketothiolase Deficiency |
|
Pallor, Edema, Thrombocytosis, Leukocytosis, Dehydration, Hepatomegaly |
ORPHA:134 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Hepatomegaly, Impaired oxidative burst, Thromb... |
OMIM:226990 |
Fanconi Anemia, Complementation Group I |
|
Decreased response to growth hormone stimulation test, Pallor, Bone marrow hypocellularity, Neutr... |
OMIM:609053 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Hypothyroidism, Umbilical hernia |
ORPHA:2349 |
Complete Atrioventricular Septal Defect |
|
Cyanosis, Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P ... |
ORPHA:1329 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... |
OMIM:618447 |
Neonatal Lupus Erythematosus |
|
Anemia, Hepatic failure, Abnormality of the liver, Neutropenia, Hemolytic anemia, Hydrocephalus, ... |
ORPHA:398124 |
Lysosomal Acid Lipase Deficiency |
|
Leukopenia, Anemia, Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration... |
OMIM:278000 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... |
OMIM:301035 |
Athyreosis |
|
Hypothyroidism, Thyroid agenesis |
ORPHA:95713 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Intermittent jaundice, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... |
ORPHA:3203 |
Formiminoglutamic Aciduria |
|
Anemia, Megaloblastic anemia |
ORPHA:51208 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Stomatocytosis, Spontaneous hemolytic crises, Jaundice, Communicating hydrocephalus, Decreased th... |
ORPHA:168577 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Hypocalcemia, Polyphagia, Neonatal hypoglycemia |
OMIM:606407 |
Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Weight loss, Palpitations, Tachycardia, Goiter |
OMIM:188580 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... |
OMIM:613251 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
Immunodeficiency 27A |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosis, Enlarge... |
OMIM:209950 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... |
OMIM:140400 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Anemia, Myeloid leukemia, Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Mediastinal lymph... |
OMIM:614742 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... |
OMIM:614172 |
Morgagni-Stewart-Morel Syndrome |
|
Hypothyroidism, Hypertension, Abnormality of the endocrine system, Diabetes mellitus, Abnormality... |
ORPHA:77296 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Anemia, Nonimmune hydrops fetalis, Decreased liver function, Neonatal death, Intrauterine growth ... |
OMIM:618835 |
Potocki-Lupski Syndrome |
|
Hypothyroidism, Patent foramen ovale, Small for gestational age, Atrial septal defect, Failure to... |
OMIM:610883 |
Aapoaiv Amyloidosis |
|
Left ventricular outflow tract obstruction, Abnormal cardiac ventricular function, Hypertension, ... |
ORPHA:439232 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperhidrosis, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia... |
ORPHA:276608 |
Transaldolase Deficiency |
|
Anemia, Hepatic fibrosis, Cirrhosis, Pancytopenia, Hepatosplenomegaly, Oligohydramnios, Micronodu... |
OMIM:606003 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Anemia, Nonimmune hydrops fetalis, Decreased liver function, Neonatal death, Intrauterine growth ... |
OMIM:618839 |
Coronary Arterial Fistula |
|
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Bacte... |
ORPHA:2041 |
Coasy Protein-Associated Neurodegeneration |
|
Abnormality of thalamus morphology |
ORPHA:397725 |
Dermatitis, Atopic |
|
Facial erythema, Dry skin, Pallor |
OMIM:603165 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Pancytopenia, Hemophagocytosis, Splenomegaly, Facial edema |
OMIM:618398 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Umbilical hernia, Decreased circulating follicle stimulating hormone concentration, Anterior pitu... |
ORPHA:226307 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
Developmental And Epileptic Encephalopathy 90 |
|
Hypothyroidism, Atrial septal defect |
OMIM:301058 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Renal Glucosuria |
|
Glycosuria, Polyphagia, Polydipsia |
OMIM:233100 |
Desmoplastic Small Round Cell Tumor |
|
Anemia, Neoplasm of the pancreas, Abnormality of the peritoneum, Lymphadenopathy, Hepatomegaly, M... |
ORPHA:83469 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... |
OMIM:614021 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Obesity, Polyphagia |
ORPHA:177910 |
Attrv30M Amyloidosis |
|
Weight loss, Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia, Decreased circulating cortisol level, Hypoglycemic seizures, Polyphagia, Obesity |
OMIM:609734 |
Bangstad Syndrome |
|
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l... |
ORPHA:1227 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E... |
OMIM:603554 |
Coach Syndrome 3 |
|
Anemia, Portal fibrosis |
OMIM:619113 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hepatic failure, Acute lymphob... |
ORPHA:158057 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal lymph node morphology, Anemia, Brain abscess, Abnormality of the pancreas, Abnormal test... |
ORPHA:54251 |
Poems Syndrome |
|
Pulmonary arterial hypertension, Hypothyroidism, Increased circulating prolactin concentration, H... |
ORPHA:2905 |
Dermatitis Herpetiformis |
|
Erythema, Edema, Skin vesicle, Microcytic anemia |
ORPHA:1656 |
Galloway-Mowat Syndrome 6 |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Decreased body weight |
OMIM:618347 |
Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... |
OMIM:608567 |
Pendred Syndrome |
|
Goiter, Compensated hypothyroidism, Thyroid carcinoma |
OMIM:274600 |
Hereditary Elliptocytosis |
|
Stomatocytosis, Congenital hemolytic anemia, Hydrops fetalis, Hemolytic anemia, Elliptocytosis, J... |
ORPHA:288 |
Tufted Angioma |
|
Anemia, Thrombocytopenia, Purpura, Petechiae |
ORPHA:1063 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Cholelithiasis, Nonspherocytic hemol... |
OMIM:235700 |
Allan-Herndon-Dudley Syndrome |
|
Hypothyroidism, Flexion contracture, Elevated circulating thyroid-stimulating hormone concentration |
OMIM:300523 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Porphyria Cutanea Tarda |
|
Periportal fibrosis, Hepatic lobular inflammation, Hepatocellular carcinoma, Abnormal erythrocyte... |
ORPHA:101330 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Hepatomegaly, Thrombocytopenia, Neutropenia, Pancreatitis |
ORPHA:289916 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia |
OMIM:600919 |
Aa Amyloidosis |
|
Hypotension, Hypothyroidism, Adrenal insufficiency, Enlarged kidney, Abnormal heart morphology, H... |
ORPHA:85445 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Abnormality of thalamus morphology |
OMIM:613724 |
Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Third degree atrioventricular block, Hypoplasia of the thymus, Con... |
ORPHA:40366 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hypothyroidism |
OMIM:619927 |
Gamma-Heavy Chain Disease |
|
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, ... |
ORPHA:100026 |
Diamond-Blackfan Anemia 20 |
|
Anemia, Erythroid hypoplasia |
OMIM:618313 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618824 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, B lymphocytopenia, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Pancyt... |
OMIM:619824 |
Permanent Congenital Hypothyroidism |
|
Umbilical hernia, Hypothyroidism, Thyroid dysgenesis, Goiter |
ORPHA:226292 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Autoimmune hemolytic anemia, Edema, Lymphadenopathy, Erythema, Hepatomegaly, Splenomegaly |
OMIM:619183 |
Congenital Hypothyroidism |
|
Hypotension, Hypothyroidism, Abnormal pericardium morphology, Hypogonadism, Anterior hypopituitar... |
ORPHA:442 |
Tubulinopathy-Associated Dysgyria |
|
Abnormality of thalamus morphology, Ventriculomegaly |
ORPHA:467166 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... |
OMIM:604400 |
Alexander Disease Type I |
|
Abnormal thalamic MRI signal intensity, Hydrocephalus |
ORPHA:363717 |
Nasu-Hakola Disease |
|
Frontal lobe dementia, Irritability, Disinhibition, Abnormal adipose tissue morphology, Memory im... |
ORPHA:2770 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Systolic heart murmur, Left ventricular outflow tract obstruction,... |
ORPHA:3092 |
Pseudohypoparathyroidism, Type Ic |
|
Hypothyroidism, Enamel hypoplasia, Elevated circulating thyroid-stimulating hormone concentration... |
OMIM:612462 |
Aicardi Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation, Spina bifida, Choroid plexus cyst, Hepatob... |
OMIM:304050 |
Isolated Agammaglobulinemia |
|
Anemia, Skin ulcer, Abnormality of neutrophils, Recurrent cutaneous abscess formation, Thrombocyt... |
ORPHA:229717 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Abnormality of thyroid physiology, Reduced radioactive iodine uptake, Decreased thyroid-stimulati... |
ORPHA:95715 |
Hyperthyroidism, Nonautoimmune |
|
Hyperthyroidism, Small for gestational age, Increased circulating T4 concentration, Thyroid hyper... |
OMIM:609152 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Decreased thalamic volume |
OMIM:619072 |
Developmental And Epileptic Encephalopathy 101 |
|
Limb joint contracture, Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum |
|
Goiter, Primary hypothyroidism |
OMIM:225040 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Small for gestational age, Pericardial e... |
OMIM:618775 |
Congenital Rubella Syndrome |
|
Anemia, Jaundice, Hepatomegaly, Intrauterine growth retardation, Thrombocytopenia, Splenomegaly |
ORPHA:290 |
Sandhoff Disease, Infantile Form |
|
Abnormal thalamic MRI signal intensity, Hepatosplenomegaly |
ORPHA:309155 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Idiopathic Hypereosinophilic Syndrome |
|
Angioedema, Anemia, Neutrophilia, Elevated hepatic transaminase, Pancreatitis, Portal fibrosis, H... |
ORPHA:3260 |
Rh Deficiency Syndrome |
|
Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatosplenomegaly, Oligohydramnios,... |
ORPHA:71275 |
Bazex Syndrome |
|
Scaling skin, Anemia, Edema |
ORPHA:166113 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... |
ORPHA:300751 |
Alstrom Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Diabetes insipidus, Decreased response to growth hormone stimul... |
OMIM:203800 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Inguinal hernia, Hypothyroidism |
OMIM:613970 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Petechiae, Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthoc... |
OMIM:300367 |
Familial Glucocorticoid Deficiency |
|
Hypotension, Precocious puberty, Decreased circulating aldosterone level, Weight loss, Decreased ... |
ORPHA:361 |
Leukodystrophy, Hypomyelinating, 24 |
|
Hypothyroidism, Flexion contracture |
OMIM:619851 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Right bundle branch block, Redu... |
OMIM:115197 |
Rhabdoid Tumor |
|
Thrombocytopenia, Lymphadenopathy, Anemia, Neoplasm of the liver |
ORPHA:69077 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618317 |
19P13.12 Microdeletion Syndrome |
|
Hypothyroidism, Precocious puberty, Ventricular septal defect, Atrial septal defect, Aortic regur... |
ORPHA:254346 |
Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Cardiomegaly, Reduced left ventricular ejection fraction, Abnormal EK... |
ORPHA:85451 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hypothyroidism, Parathyroid adenoma, Pancreatic endocrine tumor, Pituitary adenoma, Carcinoid tum... |
OMIM:610755 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatomegaly, Splenomegaly |
OMIM:185000 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Dilated third ventricle, Hydrocephalus, Lateral ventricle dilatation |
OMIM:619575 |
Cinca Syndrome |
|
Anemia, Abnormal granulocyte morphology, Purpura, Abnormality of neutrophils, Edema, Lymphadenopa... |
ORPHA:1451 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
T2 hypointense thalamus |
OMIM:618193 |
Ddost-Cdg |
|
Lipodystrophy, Failure to thrive, Primary hypothyroidism |
ORPHA:300536 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Predominantly lower limb lymphedema, Dilated third ventricle |
ORPHA:314404 |
Thyroid Lymphoma |
|
Hypothyroidism, Hashimoto thyroiditis, Hyperthyroidism, Goiter |
ORPHA:97285 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Anemia |
ORPHA:371 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Ventriculomegaly, Hepatitis, Coombs-positive hemolytic anemia, Autoimmune thrombocytopeni... |
OMIM:304790 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Inguinal hernia, Joint contracture, Bradycardia |
OMIM:614498 |
B4Galt1-Cdg |
|
Small for gestational age, Hypothyroidism, Splenomegaly, Hepatomegaly |
ORPHA:79332 |
6Q16 Microdeletion Syndrome |
|
Obesity, Polyphagia |
ORPHA:171829 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Intrauterine growth retardation, Nonimmune hydrops fetalis |
OMIM:618838 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Frontotemporal dementia, Apathy, Agitation, Polyphagia, Disinhibition, Memory impairment, Progres... |
OMIM:607485 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Hypothyroidism, Decreased body weight, Hepatomegaly |
OMIM:607906 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Hypothyroidism, Failure to thrive, Hepatosplenomegaly |
OMIM:618999 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Polyhydramnios, Anemia, Hydrops fetalis |
ORPHA:3405 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Failure to thrive, Bradycardia, Inguinal hernia |
OMIM:619272 |
Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Bidirectional shunt, Systolic heart murmur, Right bundle branch block, Abnormal atriove... |
ORPHA:439 |
Duodenal Neuroendocrine Tumor |
|
Hepatic failure, Extrahepatic cholestasis, Increased hematocrit, Elevated hepatic transaminase, I... |
ORPHA:100076 |
Aggressive Systemic Mastocytosis |
|
Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of... |
ORPHA:98850 |
Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Elevated circulating alanine aminotransferase concent... |
ORPHA:158061 |
Intellectual Disability-Strabismus Syndrome |
|
Hypothyroidism, Hypohidrosis, Congenital finger flexion contractures, Decreased response to growt... |
ORPHA:363528 |
Idiopathic Aplastic Anemia |
|
Anemia, Reticulocytopenia, Pancytopenia, Ecchymosis, Bone marrow hypocellularity, Thrombocytopeni... |
ORPHA:88 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Anemia, Edema, Thrombocytosis, Hepatomegaly, Iron deficiency anemia, Ascites, Generalized edema |
OMIM:226300 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularity, Increased mean cor... |
OMIM:618849 |
Hoyeraal-Hreidarsson Syndrome |
|
Anemia, Ventriculomegaly, Bone marrow hypocellularity, Thrombocytopenia, Abnormal leukocyte morph... |
ORPHA:3322 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Camptodactyly of finger, Hypothyroidism, Delayed puberty |
ORPHA:2994 |
Bamforth-Lazarus Syndrome |
|
Congenital hypothyroidism, Thyroid agenesis |
ORPHA:1226 |
Necrotizing Enterocolitis |
|
Hypotension, Small for gestational age, Shock, Abnormal heart morphology, Bradycardia |
ORPHA:391673 |
Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Nonimmune hydrops f... |
ORPHA:124 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Hypothyroidism, Decreased body weight, Small for gestational age, Dorsocervical fat pad, Diabetes... |
ORPHA:391408 |
Glutamine Deficiency, Congenital |
|
Camptodactyly, Flexion contracture, Bradycardia |
OMIM:610015 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes mellitus at p... |
OMIM:608594 |
Pseudohypoparathyroidism, Type Ia |
|
Hypothyroidism, Enamel hypoplasia, Hypogonadism, Elevated circulating parathyroid hormone level, ... |
OMIM:103580 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Leukopenia, Anemia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:619151 |
Fanconi Anemia, Complementation Group E |
|
Anemia, Reticulocytopenia, Pancytopenia, Cryptorchidism, Anemic pallor, Thrombocytopenia, Neutrop... |
OMIM:600901 |
Premature Ovarian Failure 10 |
|