Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Pallor, Splenomegaly, Hepatomegaly, Anemia |
ORPHA:46532 |
Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Pallor... |
ORPHA:90039 |
Diamond-Blackfan Anemia 19 |
|
Anemia, Erythroid hypoplasia, Steroid-responsive anemia |
OMIM:618312 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Thyroid Hormone Metabolism, Abnormal, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating free T3, Hy... |
OMIM:609698 |
Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity... |
ORPHA:71529 |
Thyroid Hormone Metabolism, Abnormal, 3 |
|
Abnormal circulating free T3 concentration, Increased circulating free T3, Euthyroid hyperthyroxi... |
OMIM:620198 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Pallor, Splenomegaly, Anemia of inadequate production, Anisocytosis, Retic... |
OMIM:615631 |
Hb Bart'S Hydrops Fetalis |
|
Oligohydramnios, Polyhydramnios, Splenomegaly, Abnormal hemoglobin, Pallor, Hepatomegaly, Hydroce... |
ORPHA:163596 |
Hyperthyroxinemia, Familial Dysalbuminemic |
|
Abnormal thyroid-stimulating hormone level, Increased circulating free T4 concentration, Euthyroi... |
OMIM:615999 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Acute Myelomonocytic Leukemia |
|
Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia |
ORPHA:517 |
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia, Intrauterine growth retardation |
ORPHA:2802 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Intrauterine growt... |
OMIM:266200 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Atrial flutter, Failure to thrive, Ventricular escape rhythm, Mitral regurgitation, Decreased bod... |
OMIM:616201 |
X-Linked Sideroblastic Anemia |
|
Anemia, Elevated circulating hepatic transaminase concentration, Pallor, Splenomegaly |
ORPHA:75563 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Sideroblastic anemia, Pallor, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, El... |
OMIM:615234 |
Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Failure to thrive, Umbilical hernia, Abnormal heart morphol... |
ORPHA:99886 |
Mandibuloacral Dysplasia |
|
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... |
ORPHA:2457 |
Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Skin ulcer, Microcytic anemia, Pallor, Splenomegaly, Abnormal hemoglob... |
ORPHA:848 |
Multifocal Atrial Tachycardia |
|
Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff... |
ORPHA:3282 |
Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
Atrial Standstill |
|
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Left ventricular no... |
ORPHA:1344 |
Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... |
ORPHA:824 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Maturity-onset diabetes of the young, Large for gestational age, Hyperinsulinemia, Hypoketotic hy... |
ORPHA:324575 |
Leishmaniasis |
|
Elevated circulating hepatic transaminase concentration, Skin ulcer, Pancytopenia, Leukopenia, Pa... |
ORPHA:507 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Obesity, Hyperinsulinemia, Polyphagia, Childhood-onset truncal obesity, Hypogl... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Obesity, Hyperinsulinemia, Polyphagia, Childhood-onset truncal obesity, Hypogl... |
ORPHA:71526 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia |
OMIM:614896 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Anemia of inadequate production, Macrocytic anemia, Anemic pallor, Hypochro... |
OMIM:300751 |
Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Hypothyroidism, Overweight, Reduced circulating prolactin concentration, Inappropriately normal t... |
OMIM:300888 |
Fetal Parvovirus Syndrome |
|
Ascites, Intrauterine growth retardation, Increased nuchal translucency, Thrombocytopenia, Anemia... |
ORPHA:295 |
Preeclampsia/Eclampsia 1 |
|
Intrauterine growth retardation, Elevated circulating hepatic transaminase concentration, Edema, ... |
OMIM:189800 |
Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... |
OMIM:133180 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
Obesity Due To Sim1 Deficiency |
|
Memory impairment, Obesity, Glucose intolerance, Hyperinsulinemia, Polyphagia, Attention deficit ... |
ORPHA:369873 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hepatomegaly, Sideroblastic anemia, Elevated circulating hepatic transaminase concentration, Pallor |
OMIM:613561 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Pallor, Splenomeg... |
OMIM:194380 |
Thyroid Dyshormonogenesis 6 |
|
Congenital hypothyroidism, Hypothyroidism |
OMIM:607200 |
Familial Thyroid Dyshormonogenesis |
|
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... |
ORPHA:95716 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Hypothyroidism, Cardiomyopathy |
OMIM:619647 |
Congenital Atransferrinemia |
|
Anemia, Abnormality of the pancreas |
ORPHA:1195 |
Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... |
OMIM:617280 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
Cold Agglutinin Disease |
|
Pallor, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia |
ORPHA:56425 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia |
OMIM:205950 |
Long Qt Syndrome 15 |
|
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... |
OMIM:616249 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... |
OMIM:614022 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Skin ulcer, Extramedullary hematopoiesis, Persistence of hemoglobin F, Decreased ... |
ORPHA:231222 |
Congenital Heart Block |
|
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... |
ORPHA:60041 |
Huntington Disease |
|
Mental deterioration, Depression, Decreased body mass index, Abnormal circulating cholesterol con... |
ORPHA:399 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Pancytopenia, Pallor, Megaloblastic anemia, Thrombocytopenia, ... |
OMIM:613839 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... |
OMIM:603902 |
Elliptocytosis 1 |
|
Pallor, Splenomegaly, Elliptocytosis, Jaundice, Hemolytic anemia |
OMIM:611804 |
Pituitary Dwarfism With Large Sella Turcica |
|
Decreased response to growth hormone stimulation test, Hypothyroidism |
OMIM:262710 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidism |
OMIM:262700 |
Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Pallor |
ORPHA:90064 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Lymphedema, Leukocytosis, Splenomegaly, Pallor, Lymp... |
ORPHA:3226 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice |
OMIM:613977 |
Pick Disease Of Brain |
|
Inappropriate laughter, Disinhibition, Irritability, Polyphagia, Frontotemporal dementia, Emotion... |
OMIM:172700 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Failure to thrive, Congestive heart failure, Left ventricular hypertroph... |
OMIM:619048 |
Hereditary Spherocytosis |
|
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... |
ORPHA:822 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Ane... |
OMIM:603552 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... |
ORPHA:766 |
Thyroid Dyshormonogenesis 2A |
|
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... |
OMIM:274500 |
Myelofibrosis |
|
Hemophagocytosis, Extramedullary hematopoiesis, Pallor, Splenomegaly, Hepatomegaly, Myeloprolifer... |
OMIM:254450 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Neonatal death |
OMIM:273680 |
Evans Syndrome |
|
Pallor, Autoimmune hemolytic anemia, Petechiae, Neutropenia in presence of anti-neutropil antibod... |
ORPHA:1959 |
Timothy Syndrome |
|
Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car... |
OMIM:601005 |
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
|
Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism |
OMIM:300123 |
Obesity |
|
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio |
OMIM:601665 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Failu... |
ORPHA:71212 |
Transaldolase Deficiency |
|
Premature skin wrinkling, Hepatosplenomegaly, Cirrhosis, Thrombocytopenia, Anemia, Hydrops fetali... |
ORPHA:101028 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated circulating hepatic transaminase concentration, Increased mean corpuscular volume, Abnor... |
ORPHA:98870 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... |
OMIM:618782 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Type I diabetes mellitus, Large for gestational age, Hypoketotic hypoglycemia, Hyperinsulinemia, ... |
ORPHA:276575 |
Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... |
OMIM:237800 |
Congenital Toxoplasmosis |
|
Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Ascites, Intrauterine ... |
ORPHA:858 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Type I diabetes mellitus, Large for gestational age, Hyperinsulinemia, Hypoketotic hypoglycemia, ... |
ORPHA:276580 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Goiter... |
OMIM:274300 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Pallor, Reticulocytosis, Decreased mean corpuscular volume, Hemolytic anemia |
OMIM:611590 |
Frontotemporal Dementia |
|
Frontal lobe dementia, Inappropriate laughter, Disinhibition, Irritability, Polyphagia, Frontotem... |
OMIM:600274 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Recurrent hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia, Reactive hypoglycemi... |
ORPHA:276556 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Intrauteri... |
ORPHA:2133 |
Multiple Symmetric Lipomatosis |
|
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology |
ORPHA:2398 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran... |
ORPHA:64743 |
Hydrops Fetalis, Nonimmune |
|
Anemia, Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:236750 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pallor, Reticulocyto... |
ORPHA:300298 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Obesity, Polyphagia, Hyperinsulinemia |
ORPHA:329249 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... |
OMIM:163800 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Decreased circu... |
ORPHA:90673 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... |
OMIM:301033 |
Idiopathic Congenital Hypothyroidism |
|
Decreased circulating T4 concentration, Bradycardia, Elevated circulating thyroid-stimulating hor... |
ORPHA:95717 |
Wolfram-Like Syndrome |
|
Male hypogonadism, Central diabetes insipidus, Hypothyroidism, Delayed puberty, Primary gonadal i... |
ORPHA:411590 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Obesity, Hyperinsulinemia, Hyperlipidemia, Polyphagia, Hypertriglyceridemia |
OMIM:617885 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... |
OMIM:615285 |
Leukoencephalopathy With Vanishing White Matter 5 |
|
Dilated third ventricle, Lateral ventricle dilatation |
OMIM:620315 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... |
ORPHA:216694 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hyperammonemia, Hyperleucinemia, Decreased body weight, Polyphagia, Hypervalin... |
OMIM:620085 |
Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... |
ORPHA:231226 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Goiter, Decreas... |
ORPHA:226313 |
Atrial Septal Defect 6 |
|
Atrial fibrillation, Atrial septal defect, Bradycardia |
OMIM:613087 |
Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... |
OMIM:133100 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor, Megaloblastic anemia, Thrombocytopenia |
ORPHA:49827 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Congenital hypothyroidism, Obesity |
ORPHA:88643 |
Beta-Thalassemia Major |
|
Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F... |
ORPHA:231214 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Mitral... |
OMIM:225250 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Hypochromic anemia, Microcytic anemia, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyper... |
OMIM:600462 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Nephronophthisis |
|
Anemia |
ORPHA:655 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... |
OMIM:601419 |
Kleine-Levin Syndrome |
|
Transient global amnesia, Depression, Polydipsia, Confusion, Abnormal eating behavior, Irritabili... |
ORPHA:33543 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Failure to thrive, Hypertrophic cardiomyopathy, Bradycardia, Hepatomegaly, Cardiac arrest |
OMIM:618235 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... |
OMIM:616117 |
Bdv Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... |
OMIM:619326 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia |
OMIM:608898 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
Leptin Receptor Deficiency |
|
Obesity, Abnormal eating behavior, Emotional lability, Aggressive behavior, Polyphagia, Diabetes ... |
OMIM:614963 |
Erythrocytosis, Familial, 4 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:611783 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Ly... |
ORPHA:331206 |
Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production |
OMIM:153550 |
Trimethylaminuria |
|
Anemia, Splenomegaly, Neutropenia |
OMIM:602079 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypoplastic left heart, Bradycardia, Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:616276 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi... |
OMIM:616860 |
Fetal Iodine Syndrome |
|
Hypothyroidism |
ORPHA:1910 |
Erythrocytosis, Familial, 5 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617907 |
Letterer-Siwe Disease |
|
Hepatosplenomegaly, Pallor, Neutropenia, Thrombocytopenia, Anemia, Jaundice |
OMIM:246400 |
Alpha-Heavy Chain Disease |
|
Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia |
ORPHA:100025 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Autosomal Erythropoietic Protoporphyria |
|
Erythema, Cholelithiasis, Decreased liver function, Microcytic anemia, Cirrhosis, Edema |
ORPHA:79278 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Umbilical hernia, Decreased circulating T4 concentration, Hypothyroidism, Omphalocele, Decreased ... |
OMIM:275100 |
Nphp3-Related Meckel-Like Syndrome |
|
Oligohydramnios, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology, Dandy-W... |
ORPHA:3032 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... |
OMIM:600858 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Patent foramen ovale, Bradycardia |
OMIM:617182 |
Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
Tako-Tsubo Cardiomyopathy |
|
Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,... |
ORPHA:66529 |
Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Tetralogy of Fallot, Abnormality of thyroid physiology, Inguinal hernia |
OMIM:615542 |
Sudden Cardiac Failure, Infantile |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... |
OMIM:617222 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Focal T2 hyperintense thalamic lesion, Splenomegaly, Macrocytic anemia |
OMIM:619046 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal... |
OMIM:262600 |
Alpha-Thalassemia |
|
Generalized edema, Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Ba... |
ORPHA:846 |
Diffuse Neonatal Hemangiomatosis |
|
Ascites, Polyhydramnios, Hepatomegaly, Thrombocytopenia, Anemia, Hydrops fetalis |
ORPHA:2123 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Failure to thrive, Hypertrophic cardiomyopathy, Cardiomegaly, Bradycardia, Pericardial effusion, ... |
OMIM:614702 |
Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Pallor, Reticulocytosi... |
ORPHA:35858 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hyperinsulinemia, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration,... |
OMIM:620211 |
Aregenerative Anemia |
|
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, P... |
ORPHA:101096 |
Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate... |
ORPHA:86839 |
Tempi Syndrome |
|
Polycythemia, Ascites, Increased hematocrit, Transudative pleural effusion, Facial erythema |
ORPHA:284227 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Congenital hypothyroidism, Increased body weight, Increased T3/T4 ratio, Omphalocele, Increased b... |
OMIM:614450 |
Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... |
OMIM:601494 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells |
OMIM:607616 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Anemia, Hepatomegaly, Dehydration |
ORPHA:28 |
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Sick sinus syndrome, Bradycardia |
OMIM:617173 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia |
ORPHA:100024 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Hyperglycemia, Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes ... |
OMIM:222100 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:363654 |
Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Dry skin, Lateral ventricle dilatation, Dilated third ventricle, Cryptorchidism |
OMIM:619244 |
Pearson Marrow-Pancreas Syndrome |
|
Erythema, Hepatic failure, Elevated circulating hepatic transaminase concentration, Exocrine panc... |
OMIM:557000 |
Hyperthyroxinemia, Dystransthyretinemic |
|
Euthyroid hyperthyroxinemia |
OMIM:145680 |
Peripartum Cardiomyopathy |
|
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... |
ORPHA:563 |
Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Obesity, Hyperinsulinemia |
OMIM:618406 |
Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... |
OMIM:603373 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor, Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90037 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatome... |
OMIM:613313 |
Gne Myopathy |
|
Hypothyroidism, Cardiomyopathy |
ORPHA:602 |
Immunodeficiency 69 |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... |
OMIM:618963 |
Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... |
ORPHA:3202 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Goiter, Increased circulating T4 concentration, Weight loss, Increased circulating free T4 concen... |
OMIM:613239 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Elevated hepatic iron concentration, Hypochromia, Anemia, Decreased mean c... |
OMIM:206100 |
Obesity And Hypopigmentation |
|
Polyphagia, Obesity, Hyperinsulinemia |
OMIM:620195 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Flexion contracture, Dilated cardiomyopathy, Bradycardia |
OMIM:618815 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Decreased response to growth hormone stimulation test, Hypothyroidism, Small for gestational age,... |
ORPHA:3363 |
Fetal Cytomegalovirus Syndrome |
|
Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Hepatitis, Intrauterin... |
ORPHA:294 |
Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Petechiae, Thrombocytopenia, Anemia, Macrothrombocytopenia |
OMIM:187800 |
Protoporphyria, Erythropoietic, 1 |
|
Erythema, Cholelithiasis, Hepatic failure, Hemolytic anemia, Edema |
OMIM:177000 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Thyrotropin-Releasing Hormone Deficiency |
|
Hypothyroidism, Hypothalamic hypothyroidism |
OMIM:275120 |
Adenohypophysitis |
|
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit... |
ORPHA:95512 |
Cardiomyopathy, Dilated, 1A |
|
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... |
OMIM:115200 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect |
OMIM:616277 |
Panhypophysitis |
|
Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit... |
ORPHA:95513 |
Bone Marrow Failure Syndrome 2 |
|
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia |
OMIM:615715 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrops f... |
OMIM:616738 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Intrauteri... |
OMIM:301310 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Biventricular hypertrophy, Abnormal mitral valve morphology, Ventricular septal defect, Abnormal ... |
ORPHA:860 |
Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
Familial Short Qt Syndrome |
|
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... |
ORPHA:51083 |
Wild Type Attr Amyloidosis |
|
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... |
ORPHA:330001 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:610539 |
Refractory Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... |
ORPHA:98826 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hydranencephaly, Dilated third ventricle, Hepatic sinusoidal dilatation, Lateral ventricle dilata... |
OMIM:620371 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Obesity, Hypoketotic hypoglycemia, Hypocalcemia, Hyp... |
ORPHA:26793 |
Acute Erythroid Leukemia |
|
Bone marrow hypocellularity, Pancytopenia, Leukopenia, Erythroid hypoplasia, Anemia |
ORPHA:318 |
Atrial Standstill 2 |
|
Atrial standstill, Cardiomyopathy, Absent P wave, Atrial cardiomyopathy, Dilatation of the ventri... |
OMIM:615745 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Ventriculomegaly, Dilated third ventricle, Occipital encephalocele, Elevated circulating hepatic ... |
ORPHA:397715 |
Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Polyhydramnios, Dilated third ventricle, Lateral ventricle dilatation |
OMIM:617296 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice |
ORPHA:90033 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Pallor, Chronic l... |
ORPHA:98849 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia, Thrombocytopenia |
OMIM:616176 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... |
OMIM:619041 |
Paroxysmal Extreme Pain Disorder |
|
Tachycardia, Bradycardia |
OMIM:167400 |
Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Pallor |
ORPHA:99931 |
Atransferrinemia |
|
Abnormality of the liver, Hypochromic anemia |
OMIM:209300 |
Classic Mycosis Fungoides |
|
Erythema, Skin ulcer, Dry skin, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy, He... |
ORPHA:2584 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice |
OMIM:224100 |
Hemochromatosis, Type 3 |
|
Elevated circulating hepatic transaminase concentration, Lymphopenia, Cirrhosis, Neutropenia, Ane... |
OMIM:604250 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cardiomyopathy, Hypogonadism, Abnormality of the thyroid gland, Arrhythmia, Bradycardia, Diabetes... |
OMIM:609286 |
D-Glyceric Aciduria |
|
Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia |
ORPHA:941 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Pallor, Eosinophilia, Megaloblastic anemia, Thrombocytopenia |
ORPHA:90045 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Atrioventricular block, Failure to thrive, Joint contracture of the 5th finger, Bradycardia, Acro... |
OMIM:614407 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Failure to thrive, Hypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circul... |
OMIM:613038 |
Temple Syndrome |
|
Recurrent hypoglycemia, Obesity, Type II diabetes mellitus, Polyphagia, Small for gestational age |
ORPHA:254516 |
Fanconi Anemia, Complementation Group G |
|
Leukemia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:614082 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
Rosaï-Dorfman Disease |
|
Anemia, Erythema, Lymphadenopathy |
ORPHA:158014 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... |
OMIM:224120 |
Maternal Uniparental Disomy Of Chromosome 9 |
|
Congenital hypothyroidism, Hamstring contractures, Failure to thrive |
ORPHA:96183 |
American Trypanosomiasis |
|
Pallor, Splenomegaly, Hepatomegaly, Lymphadenopathy, Periorbital edema, Edema |
ORPHA:3386 |
Sepsis In Premature Infants |
|
Decreased liver function, Leukocytosis, Splenomegaly, Pallor, Petechiae, Hepatomegaly, Thrombocyt... |
ORPHA:90051 |
Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty acid level |
OMIM:610768 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Asplenia, Purpura |
ORPHA:3204 |
Lymphoproliferative Syndrome 1 |
|
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... |
OMIM:613011 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Steatorrhea, Increased circulating free fatty acid level, Hypophosphatemia, Hypoglycemia |
OMIM:605911 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation, Bilateral cryptorchidism, Increased nuchal... |
ORPHA:544488 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... |
OMIM:604559 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Elevated circulating asp... |
OMIM:613154 |
Bone Marrow Failure Syndrome 4 |
|
Bone marrow hypocellularity, Dry skin, Leukopenia, Thrombocytopenia, Anemia |
OMIM:618116 |
Hawkinsinuria |
|
Hypothyroidism, Failure to thrive |
ORPHA:2118 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... |
OMIM:619897 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Periorbital edema, Pleural effusion, Splenomegaly, Pallor, Hepatomegaly, Lymph... |
ORPHA:33226 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... |
OMIM:604765 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Ascites, Oligohydramnios, Polyhydramnios, Splenomegaly, Anemia |
ORPHA:1046 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia |
ORPHA:169079 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Splenomegaly, Petechiae, Thrombocytopenia, Hepatomegaly, Mediastinal lymp... |
ORPHA:158029 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Petechiae, Splenomegaly, Hepatomegaly, Anemia, Purpura |
OMIM:620296 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio... |
OMIM:275200 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... |
OMIM:612840 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... |
OMIM:604772 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Obesity, Hyperinsulinemia, Emotional lability, Polyphagia, H... |
ORPHA:179494 |
Reticular Dysgenesis |
|
Skin ulcer, Leukopenia, Anemia, Abnormality of neutrophils, Dehydration |
ORPHA:33355 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis... |
ORPHA:67044 |
Dohle Bodies And Leukemia |
|
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies, Lymphedema |
OMIM:223350 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Obesity, Inappropriate laughter, Short attention span, Polyphagia, Hyperactivity |
ORPHA:411515 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Failure to thrive, Portal hypertension, Hypothyroidism, Hyperinsulin... |
ORPHA:79319 |
Foxp1 Syndrome |
|
Failure to thrive, Abnormal heart morphology, Hypothyroidism, Pulmonary arterial hypertension, Fl... |
ORPHA:391372 |
Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia, Obesity, Motor stereotypy |
OMIM:613886 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Increased pituitary glycoprotein hormone alpha subunit level, Failure to thrive, Increased circul... |
ORPHA:90674 |
Insulinoma |
|
Transient global amnesia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsulinemia, Rea... |
ORPHA:97279 |
Fucosidosis |
|
Failure to thrive, Cardiomegaly, Hypothyroidism, Hyperhidrosis, Hepatomegaly, Acrocyanosis, Lipoa... |
ORPHA:349 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Bradycardia |
OMIM:614654 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Thyroid hypoplasia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone le... |
OMIM:301035 |
Infantile Liver Failure Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Hepatic steatosis... |
OMIM:615438 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, Hypertrophic ca... |
OMIM:261740 |
Glycogen Storage Disease Iv |
|
Failure to thrive, Cardiomyopathy, Hepatosplenomegaly, Portal hypertension, Bradycardia, Flexion ... |
OMIM:232500 |
Chronic Bilirubin Encephalopathy |
|
Prolonged neonatal jaundice, Hemolytic anemia, Abnormal thalamic MRI signal intensity |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Prolonged neonatal jaundice, Hemolytic anemia, Abnormal thalamic MRI signal intensity |
ORPHA:529799 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia |
OMIM:615085 |
Majeed Syndrome |
|
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Joint swelling, Anemia of inadequat... |
OMIM:609628 |
Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Petechiae, Neutropenia, Thromb... |
OMIM:616216 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T4 concentration, Impaired sensitivity to thyroid hormone, Increased c... |
OMIM:188570 |
Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Petechiae, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Dilated third ventricle |
OMIM:619725 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Congestive heart failure, Decreased serum testosterone concentration, Portal hype... |
ORPHA:465508 |
Kleine-Levin Hibernation Syndrome |
|
Confusion, Polyphagia |
OMIM:148840 |
Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Cyanosis, Bradycardia, Tachycardia, Cardiac arrest, Hypoxemia |
ORPHA:70587 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
Joubert Syndrome 26 |
|
Decreased response to growth hormone stimulation test, Panhypopituitarism, Central hypothyroidism |
OMIM:616784 |
14Q11.2 Microduplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia, Obesity, Aggressive behavior |
ORPHA:261229 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Hydrocephalus, Ventriculomegaly, Dilated third ventricle, Cryptorchidism |
ORPHA:500055 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Atrial fibrillation, Failure to thrive, Hyperinsulinemia, Splenomegaly, Lipodystrophy, Prolonged ... |
OMIM:613327 |
Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia |
ORPHA:54028 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Premature ventricul... |
OMIM:212138 |
Cach Syndrome |
|
Lateral ventricle dilatation, Intrauterine growth retardation, Hepatosplenomegaly, Oligohydramnio... |
ORPHA:135 |
Allan-Herndon-Dudley Syndrome |
|
Flexion contracture, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration |
OMIM:300523 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anemia, Dehydration |
ORPHA:27 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemia, Anemic pallor, Edema |
ORPHA:329971 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated circulating hepatic transaminase concentration, Abnormal thalamus morphology, Microcytic... |
ORPHA:2959 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
Precocious Puberty, Central, 1 |
|
Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Hypothyroidism, Ele... |
OMIM:176400 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... |
OMIM:159550 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Polyphagia, Obesity, Aggressive behavior, Self-mutilation |
OMIM:616521 |
Bardet-Biedl Syndrome 22 |
|
Polyphagia, Obesity, Large for gestational age |
OMIM:617119 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia, Dehydration |
ORPHA:79312 |
Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Pleural effusion, Edema, Ascites |
OMIM:603278 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Long Qt Syndrome 9 |
|
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... |
OMIM:611818 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
Incessant Infant Ventricular Tachycardia |
|
Congestive heart failure, Bundle branch block, Cardiac rhabdomyoma, Prolonged QRS complex, Suprav... |
ORPHA:45453 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia |
OMIM:613101 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated circulating hepatic transaminase concentration, Dehydration, Leukopenia, Leukocytosis, P... |
ORPHA:20 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr... |
ORPHA:542306 |
Potocki-Shaffer Syndrome |
|
Hypertension, Hypothyroidism, Delayed puberty |
ORPHA:52022 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Anemia, Purpura |
OMIM:614514 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Bradycardia |
OMIM:620265 |
Li-Campeau Syndrome |
|
Hypothyroidism, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:619189 |
Immunodeficiency 102 |
|
Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio... |
OMIM:301082 |
Sick Sinus Syndrome 4 |
|
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... |
OMIM:619464 |
Osteopetrosis, Autosomal Dominant 3 |
|
Anemia, Hyperparathyroidism, Splenomegaly, Hepatomegaly |
OMIM:618107 |
Loeffler Endocarditis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Weight loss,... |
ORPHA:75566 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis, Erythema, Edema |
OMIM:154800 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Vasospasm, Congestive heart failure, Hypopituitarism, Ischemic stroke, Cerebral ischemia, ST segm... |
ORPHA:90065 |
Congenital Macroglossia |
|
Hypothyroidism |
ORPHA:2430 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor, Autoimmune hemolytic anemia |
ORPHA:90036 |
Poems Syndrome |
|
Visceromegaly, Increased circulating prolactin concentration, Hypogonadism, Primary adrenal insuf... |
ORPHA:2905 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Goiter, Umbilical hernia, Decreas... |
OMIM:218700 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... |
OMIM:613838 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Ascites, Cholestasis, Intrauterine growth retardation, Oligohydramnios,... |
OMIM:608104 |
Congenital Heart Defects, Multiple Types, 3 |
|
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... |
OMIM:614954 |
Erythrocytosis, Familial, 2 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:263400 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Increased mean corpuscular volume, Extramedullary hematopoiesis, Decreased liver function, Ascite... |
OMIM:617021 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Obesity, Polyphagia, Skin-picking, Camptodactyly, Flexion contractu... |
OMIM:615547 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cholelithiasis, Dilated third ventricle, Lateral ventricle dilatation |
ORPHA:464738 |
Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration,... |
OMIM:604367 |
Hemochromatosis, Type 4 |
|
Anemia, Hepatomegaly, Cirrhosis, Hepatic steatosis |
OMIM:606069 |
Omenn Syndrome |
|
Dry skin, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia,... |
ORPHA:39041 |
Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Ventriculomegaly, Intrauterine growth retardation, Dilated third ventricle |
OMIM:615574 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... |
OMIM:608758 |
Wolman Disease |
|
Hepatic failure, Ascites, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells |
ORPHA:75233 |
Brugada Syndrome |
|
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... |
ORPHA:130 |
Graves Disease |
|
Polyphagia, Weight loss, Hyperactivity, Irritability |
OMIM:275000 |
Sheehan Syndrome |
|
Decreased serum estradiol, Secondary growth hormone deficiency, Adrenocorticotropin deficient adr... |
ORPHA:91355 |
Long Qt Syndrome 5 |
|
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... |
OMIM:613695 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Elevated circulating aspartate aminotransferase concentration, Pallor, Hepatomegaly, Elevated cir... |
OMIM:246450 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Hypothyroidism |
ORPHA:663 |
Short Qt Syndrome 2 |
|
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... |
OMIM:609621 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Umbilical hernia, Hypopituitarism, Decreased circulating T4 concentr... |
ORPHA:226307 |
Schnitzler Syndrome |
|
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia |
ORPHA:37748 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Bradycardia |
OMIM:614302 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Hyperglycemia, Obesity, Polyphagia, Truncal obesity |
OMIM:615986 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Situs inversus totalis, Dextrocardia, Goiter |
OMIM:617577 |
Fanconi Anemia, Complementation Group T |
|
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia |
OMIM:616435 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Precocious puberty, Failure to thrive, Abnormal circulating aldosterone, Increased circulating AC... |
OMIM:614736 |
Non-Functioning Pituitary Adenoma |
|
Secondary growth hormone deficiency, Hypopituitarism, Decreased response to growth hormone stimul... |
ORPHA:91349 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h... |
OMIM:235700 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Failure to thrive |
ORPHA:163690 |
Hyperthyroidism, Nonautoimmune |
|
Small for gestational age, Thyroid hyperplasia, Goiter, Increased circulating free T3, Increased ... |
OMIM:609152 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Anemia, Intrauterine growth retardation, Oligohydramnios, Cryptorchidism |
OMIM:620135 |
Cardiomyopathy, Dilated, 1E |
|
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... |
OMIM:601154 |
Pituitary Apoplexy |
|
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Decreased resp... |
ORPHA:95613 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Cirrhosis, Myeloid leukemia, Anemia, ... |
OMIM:614742 |
Cinca Syndrome |
|
Lymphedema, Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia |
OMIM:607115 |
Beta-Ketothiolase Deficiency |
|
Edema, Leukocytosis, Pallor, Thrombocytosis, Hepatomegaly, Dehydration |
ORPHA:134 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Intrauterine growth retardation, Focal T2 hyperintense thalamic lesion |
OMIM:619057 |
Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
Potocki-Lupski Syndrome |
|
Failure to thrive, Patent foramen ovale, Hypothyroidism, Atrial septal defect, Small for gestatio... |
OMIM:610883 |
Alg8-Cdg |
|
Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Premature skin wrinkli... |
ORPHA:79325 |
Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Obesity, Hyperinsulinemia, Polyphagia, Hypertriglyceridemia |
ORPHA:66628 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ... |
OMIM:612098 |
Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism |
OMIM:228355 |
Immune Dysregulation, Autoimmunity, And Autoinflammation |
|
Cervical lymphadenopathy, Inguinal lymphadenopathy, Petechiae, Ecchymosis, Anemia |
OMIM:620514 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... |
OMIM:618052 |
Aceruloplasminemia |
|
Abnormal pancreas morphology, Elevated hepatic iron concentration, Hypochromic microcytic anemia,... |
ORPHA:48818 |
Thyroid Hormone Resistance, Selective Pituitary |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti... |
OMIM:145650 |
Tafro Syndrome |
|
Anasarca, Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Pleural effusion, Hepatomegaly... |
ORPHA:457077 |
Leptin Deficiency Or Dysfunction |
|
Polyphagia, Obesity |
OMIM:614962 |
Fumarase Deficiency |
|
Intrahepatic cholestasis, Hepatic failure, Ventriculomegaly, Polycythemia, Ascites, Pallor, Choro... |
OMIM:606812 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Umbilical hernia, Decreased circulating T4 concentration, Abnormality of thyroid physiology, Redu... |
ORPHA:95715 |
Lymphatic Malformation 7 |
|
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
Rothmund-Thomson Syndrome, Type 1 |
|
Male hypogonadism, Hypothyroidism |
OMIM:618625 |
Chromosome 2Q37 Deletion Syndrome |
|
Obesity, Hypothyroidism, Subvalvular aortic stenosis, Arrhythmia |
OMIM:600430 |
Wilson Disease |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ... |
ORPHA:905 |
Congenital Enterovirus Infection |
|
Fetal ascites, Hepatic failure, Ventriculomegaly, Hepatitis, Cholestasis, Leukopenia, Leukocytosi... |
ORPHA:292 |
Long Qt Syndrome 8 |
|
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... |
OMIM:618447 |
Atrial Fibrillation, Familial, 7 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... |
OMIM:612240 |
Immunodeficiency 32B |
|
Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopenia, Thrombocytopen... |
OMIM:226990 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Hypothyroidism, Umbilical hernia |
ORPHA:2349 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
Fanconi Anemia, Complementation Group I |
|
Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Intrauterine ... |
OMIM:609053 |
Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa... |
OMIM:278000 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Romano-Ward Syndrome |
|
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... |
ORPHA:101016 |
Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Neonatal hypoglycemia, Failure to thrive, Hypocalcemia |
OMIM:606407 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Stomatocytosis, Decreased thalamic volume, Hepatosplenomegaly, Jaun... |
ORPHA:168577 |
Progressive Familial Heart Block, Type Ii |
|
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... |
OMIM:140400 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Cardiac conduction ab... |
ORPHA:439232 |
Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged... |
OMIM:209950 |
Thyroid Dyshormonogenesis 1 |
|
Hypothyroidism, Umbilical hernia, Goiter |
OMIM:274400 |
Morgagni-Stewart-Morel Syndrome |
|
Obesity, Abnormality of the thyroid gland, Hypertension, Hypothyroidism, Abnormality of the endoc... |
ORPHA:77296 |
Coasy Protein-Associated Neurodegeneration |
|
Abnormal thalamus morphology |
ORPHA:397725 |
Athyreosis |
|
Thyroid agenesis, Hypothyroidism |
ORPHA:95713 |
Dermatitis, Atopic |
|
Dry skin, Facial erythema, Pallor |
OMIM:603165 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased liver function, Intrauterine growth retardation, Neonatal death, Nonimmune hydrops feta... |
OMIM:618835 |
Neonatal Lupus Erythematosus |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Pancyt... |
ORPHA:398124 |
Developmental And Epileptic Encephalopathy 90 |
|
Hypothyroidism, Atrial septal defect |
OMIM:301058 |
Tufted Angioma |
|
Anemia, Purpura, Petechiae, Thrombocytopenia |
ORPHA:1063 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased liver function, Intrauterine growth retardation, Neonatal death, Nonimmune hydrops feta... |
OMIM:618839 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... |
OMIM:614021 |
Desmoplastic Small Round Cell Tumor |
|
Ascites, Hepatomegaly, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum morphology, Anem... |
ORPHA:83469 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Goiter, Palpitations, Weight loss, Hyperthyroidism, Tachycardia |
OMIM:188580 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
Transaldolase Deficiency |
|
Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Pancytope... |
OMIM:606003 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hypothyroidism, Hepatomegaly, Cardiac... |
OMIM:617713 |
Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Attention deficit hyperactivity disorder, Polyphagia, Obesity, Overfriendliness |
OMIM:620439 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Obesity, Hyperbilirubinemia, Decreased circulating cortisol level, Polyphagia, Hypoglycemic seizures |
OMIM:609734 |
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Decreased thalamic volume |
OMIM:613668 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hypothyroidism |
OMIM:619927 |
Complete Atrioventricular Septal Defect |
|
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... |
ORPHA:1329 |
Aa Amyloidosis |
|
Hypotension, Abnormal heart morphology, Adrenal insufficiency, Hypothyroidism, Hepatomegaly, Enla... |
ORPHA:85445 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Facial edema, Hemophagocytosis, Pancytopenia, Splenomegaly, Anemia |
OMIM:618398 |
Sick Sinus Syndrome 1 |
|
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... |
OMIM:608567 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia, Obesity |
ORPHA:177910 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:289916 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Galloway-Mowat Syndrome 6 |
|
Decreased response to growth hormone stimulation test, Hypothyroidism, Decreased body weight |
OMIM:618347 |
Bamforth-Lazarus Syndrome |
|
Congenital hypothyroidism, Thyroid agenesis |
OMIM:241850 |
Coach Syndrome 3 |
|
Anemia, Portal fibrosis |
OMIM:619113 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death |
OMIM:600919 |
6Q16 Microdeletion Syndrome |
|
Abnormal temper tantrums, Polyphagia, Obesity |
ORPHA:171829 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Stillbirth, Edema, Pedal edema |
OMIM:152800 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Renal Glucosuria |
|
Polyphagia, Polydipsia, Glycosuria |
OMIM:233100 |
Formiminoglutamic Aciduria |
|
Anemia, Megaloblastic anemia |
ORPHA:51208 |
Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... |
ORPHA:2041 |
Joubert Syndrome 10 |
|
Polyphagia, Obesity, Frequent temper tantrums, Decreased body weight |
OMIM:300804 |
Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro... |
OMIM:603554 |
Porphyria Cutanea Tarda |
|
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... |
ORPHA:101330 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Ventriculomegaly, Hepatitis, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positi... |
OMIM:304790 |
Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620481 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... |
OMIM:604400 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Erythema, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Edema |
OMIM:619183 |
Isolated Atp Synthase Deficiency |
|
Dilated cardiomyopathy, Hypogonadism, Hypertrophic cardiomyopathy, Arrhythmia, Hypothyroidism, He... |
ORPHA:254913 |
Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... |
OMIM:612462 |
Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia |
OMIM:618313 |
Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, Atrioventricular canal defect, Conotruncal defect, Hypoplasi... |
ORPHA:40366 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618824 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated circulating hepatic transaminase concentration, Brain abscess, Abnormal lymph node morph... |
ORPHA:54251 |
Gamma-Heavy Chain Disease |
|
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade... |
ORPHA:100026 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo... |
OMIM:619824 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Increased body weight, Hyperinsulinemic hypo... |
ORPHA:276608 |
Tubulinopathy-Associated Dysgyria |
|
Ventriculomegaly, Abnormal thalamus morphology |
ORPHA:467166 |
Alexander Disease Type I |
|
Hydrocephalus, Abnormal thalamic MRI signal intensity |
ORPHA:363717 |
Hereditary Elliptocytosis |
|
Cholelithiasis, Stomatocytosis, Skin ulcer, Abnormal erythrocyte morphology, Congenital hemolytic... |
ORPHA:288 |
Atelis Syndrome 1 |
|
Hypothyroidism, Atrial septal defect, Ventricular septal defect |
OMIM:620184 |
Bangstad Syndrome |
|
Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl... |
ORPHA:1227 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased serum testosterone concentration, Type II diabetes mellitus, Hy... |
ORPHA:453533 |
Idiopathic Hypereosinophilic Syndrome |
|
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Angioedema, Cervical ly... |
ORPHA:3260 |
Familial Glucocorticoid Deficiency |
|
Precocious puberty, Abnormal circulating adrenocorticotropin concentration, Decreased circulating... |
ORPHA:361 |
Sandhoff Disease, Infantile Form |
|
Hepatosplenomegaly, Abnormal thalamic MRI signal intensity |
ORPHA:309155 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Thalamic calcification |
OMIM:615483 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Spinocerebellar Ataxia With Epilepsy |
|
Acute hepatic failure, Focal T2 hyperintense thalamic lesion |
ORPHA:254881 |
Attrv30M Amyloidosis |
|
Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia, Weight loss |
ORPHA:85447 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Decreased thalamic volume |
OMIM:619072 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm... |
OMIM:610978 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Reduced natural killer cell count, Hepatic failure, Elevated circulating hepatic transaminase con... |
ORPHA:158057 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyo... |
OMIM:115197 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology... |
ORPHA:3092 |
Pendred Syndrome |
|
Compensated hypothyroidism, Thyroid carcinoma, Goiter |
OMIM:274600 |
Rh Deficiency Syndrome |
|
Stomatocytosis, Hepatosplenomegaly, Oligohydramnios, Intrauterine growth retardation, Reticulocyt... |
ORPHA:71275 |
19P13.12 Microdeletion Syndrome |
|
Precocious puberty, Aortic regurgitation, Obesity, Mitral regurgitation, Ventricular septal defec... |
ORPHA:254346 |
Nasu-Hakola Disease |
|
Memory impairment, Frontal lobe dementia, Disinhibition, Irritability, Abnormal adipose tissue mo... |
ORPHA:2770 |
Bazex Syndrome |
|
Anemia, Scaling skin, Edema |
ORPHA:166113 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Hypothyroidism, Inguinal hernia |
OMIM:613970 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Atrial fibrillation, Dilated cardiomyopathy, Atrial flutter, Sinoatrial block, Congestive heart f... |
ORPHA:300751 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulation, Bradycardia... |
OMIM:618775 |
Prolidase Deficiency |
|
Skin ulcer, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Petechia... |
OMIM:170100 |
Wells Syndrome |
|
Skin vesicle, Eosinophilia, Edema |
ORPHA:901 |
Ddost-Cdg |
|
Lipodystrophy, Failure to thrive, Primary hypothyroidism |
ORPHA:300536 |
Necrotizing Enterocolitis |
|
Hypotension, Abnormal heart morphology, Shock, Cyanosis, Bradycardia, Small for gestational age |
ORPHA:391673 |
Leukodystrophy, Hypomyelinating, 24 |
|
Flexion contracture, Hypothyroidism |
OMIM:619851 |
Idiopathic Aplastic Anemia |
|
Bone marrow hypocellularity, Pancytopenia, Ecchymosis, Reticulocytopenia, Thrombocytopenia, Neutr... |
ORPHA:88 |
Developmental And Epileptic Encephalopathy 101 |
|
Limb joint contracture, Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
Aicardi Syndrome |
|
Dilated third ventricle, Lateral ventricle dilatation, Hepatoblastoma, Choroid plexus cyst, Spina... |
OMIM:304050 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Acanthocytosis, Petechiae, Anemia of inadequate production, Congenital thrombocytopenia, Poikiloc... |
OMIM:300367 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618317 |
Isolated Right Ventricular Hypoplasia |
|
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... |
ORPHA:439 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
T2 hypointense thalamus |
OMIM:618193 |
Cinca Syndrome |
|
Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Abnormality of neutrophils, Ab... |
ORPHA:1451 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Generalized edema, Ascites, Hepatomegaly, Iron deficiency anemia, Thrombocytosis, Anemia, Edema |
OMIM:226300 |
Aggressive Systemic Mastocytosis |
|
Decreased liver function, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis,... |
ORPHA:98850 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Intrauterine growth retardation, Nonimmune hydrops fetalis |
OMIM:618838 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Hypothyroidism, Carcinoid tumor, E... |
OMIM:610755 |
Thyroid Lymphoma |
|
Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Goiter |
ORPHA:97285 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Inguinal hernia, Joint contracture, Bradycardia |
OMIM:614498 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation |
OMIM:619575 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Anemia, Hydrops fetalis, Polyhydramnios |
ORPHA:3405 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Anemia |
ORPHA:371 |
Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
Attrv122I Amyloidosis |
|
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... |
ORPHA:85451 |
Intellectual Disability-Strabismus Syndrome |
|
Joint contracture of the hand, Failure to thrive, Decreased response to growth hormone stimulatio... |
ORPHA:363528 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Focal T2 hyperintense thalamic lesion |
OMIM:613724 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Predominantly lower limb lymphedema, Dilated third ventricle |
ORPHA:314404 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Hypothyroidism, Delayed puberty, Camptodactyly of finger |
ORPHA:2994 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Pulmonary arterial hypertension, Inguinal hernia, Failure to thrive, Bradycardia |
OMIM:619272 |
Bone Marrow Failure Syndrome 6 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... |
OMIM:618849 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Bamforth-Lazarus Syndrome |
|
Congenital hypothyroidism, Thyroid agenesis |
ORPHA:1226 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Dorsocervical fat pad, Decreased body weight, Hypothyroidism, Delayed puberty, Diabetes mellitus,... |
ORPHA:391408 |
Cebalid Syndrome |
|
Polyphagia, Congenital diaphragmatic hernia |
OMIM:618774 |
Hoyeraal-Hreidarsson Syndrome |
|
Bone marrow hypocellularity, Ventriculomegaly, Intrauterine growth retardation, Excessive wrinkle... |
ORPHA:3322 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Umbilical hernia, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Polyphagia, Lipodystroph... |
OMIM:608594 |
Chromosome 22Q13 Duplication Syndrome |
|
Short attention span, Emotional lability, Polyphagia, Attention deficit hyperactivity disorder, I... |
OMIM:615538 |
Glutamine Deficiency, Congenital |
|
Camptodactyly, Flexion contracture, Bradycardia |
OMIM:610015 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Anemic pallor, Neutropenia, Thrombocytop... |
OMIM:600901 |
Pseudohypoparathyroidism, Type Ia |
|
Elevated circulating parathyroid hormone level, Hypogonadism, Obesity, Pseudohypoparathyroidism, ... |
OMIM:103580 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Hepatomegaly, Hypothyroidism, Decreased body weight |
OMIM:607906 |
B4Galt1-Cdg |
|
Hepatomegaly, Splenomegaly, Hypothyroidism, Small for gestational age |
ORPHA:79332 |
Amed Syndrome, Digenic |
|
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia |
OMIM:619151 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypothyroidism, Ventricular septal defect |
OMIM:619908 |
Premature Ovarian Failure 10 |
|
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... |
OMIM:612885 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Congenital hypothyroidism, Obesity |
ORPHA:352530 |
Macrophage Activation Syndrome |
|
Hemophagocytosis, Hepatitis, Decreased liver function, Elevated circulating aspartate aminotransf... |
ORPHA:158061 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
Dermatitis Herpetiformis |
|
Microcytic anemia, Erythema, Skin vesicle, Edema |
ORPHA:1656 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Fusion of the left and right thalami, Dilated fourth ventricle, Dry skin |
OMIM:619306 |
2Q23.1 Microdeletion Syndrome |
|
Self-injurious behavior, Polyphagia, Motor stereotypy, Hyperactivity, Paroxysmal bursts of laughter |
ORPHA:228402 |
Fanconi Anemia, Complementation Group C |
|
Bone marrow hypocellularity, Pancytopenia, Intrauterine growth retardation, Cryptorchidism, Anemi... |
OMIM:227645 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:182900 |
Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Failure to thrive, Hypothyroidism, Delayed puberty, Adrenal hypoplas... |
ORPHA:95496 |
Dystonia 28 |
|
Precocious puberty, Hypothyroidism |
ORPHA:589618 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hashimoto thyroiditis, Hypothyroidism, Cerebral vasculitis, Goiter |
ORPHA:83601 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Elevated circulating hepatic transaminase concentration, ... |
ORPHA:79124 |
Spherocytosis, Type 2 |
|
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:616649 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Umbilical hernia, Hyperinsulinemia, Elevated hemoglobin A1c, Type II diabetes mellitus, Reduced s... |
OMIM:269700 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Hepatosplenomegaly, Hypothyroidism, Failure to thrive |
OMIM:618999 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Anemic pallor, Neutropenia, Thrombocytop... |
OMIM:227650 |
Senior-Loken Syndrome 4 |
|
Anemia |
OMIM:606996 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Mitral valve prolapse, Angina pectoris, ... |
ORPHA:758 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... |
OMIM:185000 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Memory impairment, Disinhibition, Polyphagia, Repetitive compulsive behavior, Frontotemporal deme... |
OMIM:607485 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Hypothyroidism, Hypohidrosis |
ORPHA:1882 |
Spherocytosis, Type 4 |
|
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:612653 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Hypoplastic left heart, Failure to thrive in infancy, Hypothyroidism |
OMIM:618829 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Elevated circulating catecholamine level, Extraadrenal pheochromocytoma, Chemodectoma, Palpitatio... |
OMIM:605373 |
Gaucher Disease, Perinatal Lethal |
|
Hepatic failure, Ventriculomegaly, Ascites, Hepatosplenomegaly, Intrauterine growth retardation, ... |
OMIM:608013 |
Acute Monoblastic/Monocytic Leukemia |
|
Periorbital edema, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukoc... |
ORPHA:514 |
Methimazole Embryofetopathy |
|
Hypothyroidism, Abnormality of the thyroid gland, Ventricular septal defect |
ORPHA:1923 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypertrophic cardiomyopathy, Torsade de pointes, Premature thelarche, Hypothyroidism, Ventricular... |
OMIM:616878 |
Lesch-Nyhan Syndrome |
|
Anemia |
ORPHA:510 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Progressive psychomotor deterioration, Abnormal dental enamel morphology, Obesity, Polyphagia, In... |
ORPHA:251004 |
Wagro Syndrome |
|
Obesity, Emotional lability, Low frustration tolerance, Polyphagia, Aggressive behavior, Compulsi... |
OMIM:612469 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Ascites, Abnormality of the liver, Thrombocytopenia, Thalamic hemorrhage |
ORPHA:464321 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Male hypogonadism, Type I diabetes mellitus, Adrenal insufficiency, Primary adrenal insufficiency... |
OMIM:240300 |
Ascher Syndrome |
|
Hypothyroidism, Goiter |
ORPHA:1253 |
Aicardi-Goutieres Syndrome 9 |
|
Acute pancreatitis, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, La... |
OMIM:619487 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Hemophagocyto... |
ORPHA:540 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Abnormal temper tantrums, Failure to thrive, Type II diabetes mellitus, Increased body weight, Po... |
ORPHA:398069 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Polyphagia, Low plasma citrulline, Weight loss, Steatorrhea, Abnormal blood io... |
ORPHA:95427 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Hypothyroidism, Delayed puberty, Small for gestational age |
OMIM:616817 |
Wolcott-Rallison Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Exocrine pancreatic insuffi... |
ORPHA:1667 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Anemia, Hyperparathyroidism |
ORPHA:2668 |
Orthostatic Hypotension 2 |
|
Anemia |
OMIM:618182 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Corneal scarring, Ventricular septal defect, Hyperhidrosis, Bradycardia, Retinal hemorrhage, Tach... |
OMIM:614653 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Palpitations, Caroti... |
OMIM:168000 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Macular edema, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thr... |
OMIM:616959 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Joint contracture of the hand, Foot joint contracture, Failure to thrive, Exocrine pancreatic ins... |
ORPHA:456312 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypopituitarism, Hepatosplenomegaly, Hypothyroidism |
OMIM:619013 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Pallor, Megaloblastic anemia, Hydrocephalus, Thrombocytopenia, Neutropenia, Hepatomegaly |
OMIM:277400 |
Cystinosis |
|
Type I diabetes mellitus, Failure to thrive, Portal hypertension, Hypothyroidism, Delayed puberty... |
ORPHA:213 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Type I diabetes mellitus, Failure to thrive in infancy, Portal hypertension, Splenomegaly, Hashim... |
OMIM:613385 |
Pendred Syndrome |
|
Hyperparathyroidism, Hypothyroidism, Thyroid carcinoma, Goiter |
ORPHA:705 |
Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:185020 |
Osteopetrosis, Autosomal Recessive 2 |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Hydrocephalus, Thrombocytopenia, ... |
OMIM:259710 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... |
OMIM:208085 |
Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, Bradycardia |
OMIM:617397 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Generalized edema, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Leu... |
OMIM:603553 |
Brain-Lung-Thyroid Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Failure to thrive, Congenital hyp... |
ORPHA:209905 |
Pediatric-Onset Graves Disease |
|
Polydipsia, Failure to thrive, Emotional lability, Irritability, Polyphagia, Hyperactivity |
ORPHA:525731 |
Primary Intestinal Lymphangiectasia |
|
Generalized edema, Peritoneal effusion, Ascites, Lymphopenia, Pleural effusion, Reduced proportio... |
ORPHA:90362 |
Isolated Sedoheptulokinase Deficiency |
|
Cholestatic liver disease, Ventriculomegaly, Hepatitis, Cholestasis, Portal hypertension, Hypochr... |
ORPHA:440713 |
Japanese Encephalitis |
|
Abnormal thalamus morphology, Focal T2 hyperintense thalamic lesion, Pulmonary edema, Neutrophili... |
ORPHA:79139 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Prolonged neona... |
OMIM:619377 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hepatosplenomegaly, Hypothyroidism, Mitral regurgitation |
OMIM:619750 |
Chromosome 1P35 Deletion Syndrome |
|
Congenital hypothyroidism |
OMIM:617930 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,... |
OMIM:611881 |
Eosinophilic Gastroenteritis |
|
Ascites, Leukocytosis, Eosinophilia, Anemia, Edema |
ORPHA:2070 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of neutrophils, Hypochromic anemia, Hydrocephalus, Abnormality of the diencephalon |
ORPHA:2720 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Dilatation of the ventricular cavity, Rig... |
OMIM:609040 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hypotension, Splenomegaly, Hepatomegaly, Cachexia, Hypothyroidism, M... |
ORPHA:3452 |
Familial Acute Necrotizing Encephalopathy |
|
Cerebral edema, Abnormal thalamus morphology |
ORPHA:88619 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... |
OMIM:301083 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Ventriculomegaly, Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepa... |
OMIM:614946 |
Hemochromatosis, Type 5 |
|
Anemia, Elevated hepatic iron concentration |
OMIM:615517 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Intrauterine growth retardation, Neutropenia |
OMIM:617056 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... |
OMIM:610193 |
Oculoskeletodental Syndrome |
|
Abnormal thalamus morphology |
ORPHA:557003 |
Wolfram Syndrome 1 |
|
Cardiomyopathy, Hypothyroidism, Testicular atrophy, Diabetes insipidus, Diabetes mellitus |
OMIM:222300 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia, Anemia |
OMIM:620365 |
Lig4 Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Telangiectasia, Hypothyroidism, Small for gestation... |
OMIM:606593 |
Aicardi-Goutieres Syndrome 1 |
|
Vasculitis, Cardiomyopathy, Splenomegaly, Hypothyroidism, Hepatomegaly, Diabetes insipidus, Acroc... |
OMIM:225750 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Abnormal thalamus morphology, Cryptorchidism |
ORPHA:404440 |
Adult-Onset Still Disease |
|
Bone marrow hypocellularity, Erythema, Elevated circulating hepatic transaminase concentration, H... |
ORPHA:829 |
Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:105650 |
Oslam Syndrome |
|
Anemia |
OMIM:165660 |
Glutaric Aciduria Iii |
|
Hypertension, Hyperthyroidism, Failure to thrive, Goiter |
OMIM:231690 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric... |
OMIM:613873 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Hypothyroidism, Hypohidrosis, Mitral valve prolapse |
ORPHA:1563 |
Oculoskeletodental Syndrome |
|
Elbow flexion contracture, Splenomegaly, Lacunar stroke, Hypothyroidism, Hepatomegaly, Small for ... |
OMIM:618440 |
Polyrrhinia |
|
Abnormal third ventricle morphology, Lateral ventricle dilatation |
ORPHA:141091 |
Fanconi Anemia, Complementation Group D2 |
|
Bone marrow hypocellularity, Annular pancreas, Pancytopenia, Cryptorchidism, Anemia, Reticulocyto... |
OMIM:227646 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Dilated cardiomyopathy, Failure to thrive, Goiter, Reduced left ventricular ejection fraction, Pa... |
ORPHA:254892 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Periorbital edema, Elevated circulating hepatic transaminase concentration, Lymphopenia, Splenome... |
OMIM:617591 |
Prader-Willi Syndrome |
|
Self-injurious behavior, Class III obesity, Decreased HDL cholesterol concentration, Failure to t... |
OMIM:176270 |
Man1B1-Cdg |
|
Polyphagia, Truncal obesity |
ORPHA:397941 |
Tetanus |
|
Tachycardia, Hypertension, Bradycardia |
ORPHA:3299 |
Leigh Syndrome |
|
Hepatic failure, Intrauterine growth retardation, Neutropenia, Anemia, Abnormal thalamic MRI sign... |
ORPHA:506 |
Naxos Disease |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... |
OMIM:601214 |
Igg4-Related Thyroid Disease |
|
Graves disease, Euthyroid goiter, Goiter, Hashimoto thyroiditis, Hypothyroidism, Thyrotoxicosis w... |
ORPHA:64744 |
Infection-Related Hemolytic Uremic Syndrome |
|
Generalized edema, Brain abscess, Edema, Leukocytosis, Pallor, Pancreatitis, Thrombocytopenia, He... |
ORPHA:544482 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Congenital Myopathy 22A, Classic |
|
Tricuspid regurgitation, Bradycardia, Hip contracture, Achilles tendon contracture, Congenital fi... |
OMIM:620351 |
Neuroblastoma |
|
Anemia, Anemic pallor, Lymphadenopathy, Thrombocytopenia |
ORPHA:635 |
Hypermanganesemia With Dystonia 1 |
|
Elevated circulating hepatic transaminase concentration, Polycythemia, Decreased liver function, ... |
OMIM:613280 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Elliptocytosis, Macrocytic anemia,... |
OMIM:300835 |
Elliptocytosis 3 |
|
Intermittent jaundice, Pyropoikilocytosis, Elliptocytosis, Decreased mean corpuscular volume, Chr... |
OMIM:617948 |
Monosomy 18Q |
|
Aortic valve stenosis, Secondary growth hormone deficiency, Secundum atrial septal defect, Failur... |
ORPHA:1600 |
Stiff Person Spectrum Disorder |
|
Hypothyroidism, Diabetes mellitus, Hyperhidrosis |
ORPHA:3198 |
Cowden Syndrome 5 |
|
Thyroid adenoma, Subcutaneous lipoma, Goiter, Hypothyroidism, Hyperthyroidism, Thyroiditis |
OMIM:615108 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami, Hydrocephalus |
OMIM:617542 |
Acetazolamide-Responsive Myotonia |
|
Hypothyroidism |
ORPHA:99736 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Self-injurious behavior, Depression, Polydipsia, Narcolepsy, Hyperglycemia, Obesity, Hyperlipidem... |
ORPHA:293987 |
Rabson-Mendenhall Syndrome |
|
Precocious puberty, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Cardiomyopathy... |
ORPHA:769 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pallor, Splenomegaly, Hepatomegaly, Lymphadenopathy, Hydrocephalus, Anemia |
ORPHA:667 |
Gaucher Disease, Type I |
|
Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:230800 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Generalized edema, Hemophagocytosis, Leukopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thr... |
OMIM:267700 |
Cirrhotic Cardiomyopathy |
|
Congestive heart failure, Fourth heart sound, Ventricular arrhythmia, Elevated pulmonary artery p... |
ORPHA:57777 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Ventriculomegaly, Decreased thalamic volume, Occipital encephalocele, Dilated fourth ventricle, H... |
ORPHA:370959 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatic failure, Ventriculomegaly, Stillbirth, Extramedullary hematopoiesis, Ascites, Hepatosplen... |
OMIM:259720 |
Transcobalamin Ii Deficiency |
|
Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Hepatomegaly, Reticulocytopenia, Neutropen... |
OMIM:275350 |
Gaucher Disease Type 1 |
|
Splenic infarction, Cholelithiasis, Hepatic failure, Ascites, Hepatosplenomegaly, Pancytopenia, H... |
ORPHA:77259 |
Adiposis Dolorosa |
|
Telangiectasia of the skin, Obesity, Hypothyroidism, Xerostomia |
ORPHA:36397 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypothyroidism |
ORPHA:2491 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Cellulitis, Type I diabetes mellitus, Failure to thrive in infancy, Hepatosplenomegaly, Hypothyro... |
OMIM:606367 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated circulating hepatic transaminase concentration, Pallor, Pancreatic islet-cell hyperplasi... |
ORPHA:263455 |
Senior-Loken Syndrome 8 |
|
Intrahepatic bile duct dilatation, Pancreatic cysts, Pallor, Hepatic cysts |
OMIM:616307 |
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Hypothyroidism |
OMIM:264300 |
Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Failure to thrive, Decreased response to growth hormone stimulation test, Panhypopituitarism, Hyp... |
OMIM:618922 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Mitral valve prolapse, Hypothyroidism, Hyperthyroidism, Hypertension, Diabetes mellitus |
ORPHA:449291 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Decreased response to growth hormone stimulation test, Ventricular septal d... |
OMIM:614114 |
Congenital Tricuspid Valve Dysplasia |
|
Small for gestational age, Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, ... |
ORPHA:555874 |
Glossopharyngeal Neuralgia |
|
Jaw claudication, Syncope, Weight loss, Bradycardia |
ORPHA:221098 |
Cowden Syndrome 6 |
|
Thyroid adenoma, Subcutaneous lipoma, Goiter, Hypothyroidism, Hyperthyroidism, Thyroiditis |
OMIM:615109 |
Crimean-Congo Hemorrhagic Fever |
|
Retinal hemorrhage, Hepatomegaly, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, ... |
ORPHA:99827 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Ventriculomegaly, Elevated circulating hepatic transaminase concentration, Pallor, Hepatic steato... |
ORPHA:348 |
Melas |
|
Type I diabetes mellitus, Dilated cardiomyopathy, Failure to thrive, Cardiomyopathy, Concentric h... |
ORPHA:550 |
Irida Syndrome |
|
Intrahepatic cholestasis, Pallor |
ORPHA:209981 |
D-Glyceric Aciduria |
|
Failure to thrive, Bradycardia |
OMIM:220120 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Self-injurious behavior, Abnormal temper tantrums, Failure to thrive, Bulimia, Obesity, Obsessive... |
ORPHA:98793 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hypothyroidism, Small for gestational age, Overweight |
OMIM:617796 |
Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... |
OMIM:210250 |
Illum Syndrome |
|
Arthrogryposis multiplex congenita, Bradycardia |
OMIM:208155 |
Double Outlet Right Ventricle |
|
Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Failure to thrive, Tetralogy of Fallot,... |
ORPHA:3426 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Type I diabetes mellitus, Failure to thrive in infancy, Hepatosplenomegaly, Portal hypertension, ... |
ORPHA:228426 |
Congenital Syphilis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Large placenta, Intrauterine growth retardation... |
ORPHA:499009 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Self-injurious behavior, Abnormal temper tantrums, Failure to thrive, Bulimia, Obesity, Obsessive... |
ORPHA:177904 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... |
OMIM:603471 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Type I diabetes mellitus, Hypogonadism, Delayed menarche, Type II diabetes mellitus, Hypothyroidi... |
ORPHA:412057 |
Kcnq2-Related Epileptic Encephalopathy |
|
Cerebral edema, Facial erythema, Pallor |
ORPHA:439218 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Self-injurious behavior, Abnormal temper tantrums, Failure to thrive, Bulimia, Obesity, Obsessive... |
ORPHA:177901 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Hypothyroidism, Inguinal hernia, Small for gestational age |
ORPHA:397590 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr... |
ORPHA:98754 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Anemia |
OMIM:613092 |
Monosomy 18P |
|
Hypothyroidism, Hypertension |
ORPHA:1598 |
Nephronophthisis 9 |
|
Anemia |
OMIM:613824 |
Tropical Endomyocardial Fibrosis |
|
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
Pseudohypoparathyroidism Type 1C |
|
Depression, Hyperphosphatemia, Hypocalcemic tetany, Obesity, Confusion, Hypocalcemia, Irritabilit... |
ORPHA:79444 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Congenital hypothyroidism, Diabetes mellitus, Obesity |
OMIM:614613 |
Von Hippel-Lindau Disease |
|
Macular edema, Polycythemia, Pallor, Pancreatic islet cell adenoma, Adrenal pheochromocytoma, Pan... |
ORPHA:892 |
Neutrophilic Dermatosis, Acute Febrile |
|
Anemia, Erythema, Pyoderma gangrenosum |
OMIM:608068 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Abnormal temper tantrums, Failure to thrive, Obesity, Type II diabetes mellitus, Polyphagia, Skin... |
ORPHA:398079 |
Srd5A3-Cdg |
|
Decreased response to growth hormone stimulation test, Hypothyroidism |
ORPHA:324737 |
Distal Xq28 Microduplication Syndrome |
|
Epistaxis, Hypothyroidism, Patent foramen ovale |
ORPHA:293939 |
Proximal Spinal Muscular Atrophy |
|
Elbow flexion contracture, Multiple joint contractures, Knee flexion contracture, Atrial septal d... |
ORPHA:70 |
Icf Syndrome |
|
Umbilical hernia, Lymphopenia, Communicating hydrocephalus, Anemia, Abnormality of neutrophils |
ORPHA:2268 |
Trisomy 18P |
|
Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:1715 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypothyroidism, Hypertension |
OMIM:617763 |
Smith-Magenis Syndrome |
|
Precocious puberty, Failure to thrive in infancy, Obesity, Hypothyroidism, Delayed puberty |
ORPHA:819 |
Nephrotic Syndrome, Type 1 |
|
Hypothyroidism, Small for gestational age |
OMIM:256300 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated circulating hepatic transaminase concentration, Leukocytosis, Pleural effusion, Lung abs... |
ORPHA:67 |
Methylmalonic Aciduria, Cblb Type |
|
Pancytopenia, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia, Dehydration |
OMIM:251110 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra... |
ORPHA:99832 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,... |
ORPHA:424 |
Angelman Syndrome |
|
Self-injurious behavior, Obesity, Inappropriate laughter, Recurrent hand flapping, Polyphagia, Ag... |
ORPHA:72 |
Allan-Herndon-Dudley Syndrome |
|
Decreased body mass index, Failure to thrive in infancy, Abnormality of thyroid physiology, Flexi... |
ORPHA:59 |
Bone Marrow Failure Syndrome 5 |
|
Erythroid hypoplasia, Pure red cell aplasia, Anemia, Testicular atrophy |
OMIM:618165 |
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypogonadotropic hypogonadism, Hypothyroidism |
ORPHA:752 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Failure to thrive, Cardiomyopathy, Abnormal subcutaneous fat tissue distribution, Hepatomegaly, H... |
OMIM:212065 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Normal pressure hydrocephalus, Lateral ventricle dilatation, Abnormal thalamus morphology |
ORPHA:300570 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
3P25.3 Microdeletion Syndrome |
|
Abnormal thalamus morphology |
ORPHA:435638 |
Polyendocrine-Polyneuropathy Syndrome |
|
Type I diabetes mellitus, Central hypothyroidism, Hypogonadotropic hypogonadism, Abnormal thyroid... |
OMIM:616113 |
Dysbetalipoproteinemia |
|
Obesity, Angina pectoris, Hypothyroidism, Hepatomegaly, Acute pancreatitis, Diabetes mellitus |
ORPHA:412 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Focal T2 hyperintense thalamic lesion |
ORPHA:79264 |
Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
Rh-Null, Regulator Type |
|
Jaundice, Stomatocytosis, Hemolytic anemia |
OMIM:268150 |
Mogs-Cdg |
|
Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Hypothyroidism, Atrial septal def... |
ORPHA:79330 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Erythema, Cholestasis, Hepatosplenomegaly, Elevated circulating alanine aminotransferase concentr... |
OMIM:620376 |
Interstitial Lung And Liver Disease |
|
Hepatic fibrosis, Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase c... |
OMIM:615486 |
Danon Disease |
|
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... |
OMIM:300257 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Type I diabetes mellitus, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Hypothyroidism, ... |
OMIM:615952 |
Tsh-Secreting Pituitary Adenoma |
|
Increased circulating prolactin concentration, Central adrenal insufficiency, Weight loss, Elevat... |
ORPHA:91347 |
Castleman Disease |
|
Anasarca, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy, Thrombocytopenia,... |
ORPHA:160 |
Gaisböck Syndrome |
|
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... |
ORPHA:90041 |
Alstrom Syndrome |
|
Dilated cardiomyopathy, Insulin-resistant diabetes mellitus, Congestive heart failure, Decreased ... |
OMIM:203800 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Sinus bradycardia, Ventricular septal defect |
OMIM:126320 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... |
OMIM:614473 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
T2 hypointense thalamus |
ORPHA:1947 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Hypothyroidism, Failure to thrive, Atrial septal defect, Joint contracture |
OMIM:618005 |
Genetic Transient Congenital Hypothyroidism |
|
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... |
ORPHA:226316 |
New-Onset Refractory Status Epilepticus |
|
Abnormal thalamic MRI signal intensity |
ORPHA:363558 |
Luscan-Lumish Syndrome |
|
Polyphagia, Obesity, Aggressive behavior |
OMIM:616831 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Congenital foot contractures, Bradycardia |
ORPHA:565624 |
Subcorneal Pustular Dermatosis |
|
Hypothyroidism, Hyperthyroidism |
ORPHA:48377 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Self-injurious behavior, Bruxism, Inappropriate laughter, Recurrent hand flapping, Short attentio... |
OMIM:156200 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Pancytopenia, Abnormal... |
ORPHA:158048 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Hypogonadism, Hypothyroidism, Diabetes mellitus |
ORPHA:98673 |
Hydatidiform Mole |
|
Anemia |
ORPHA:99927 |
Dilated Cardiomyopathy With Ataxia |
|
Muscular ventricular septal defect, Hypothyroidism, Prolonged QT interval, Dilated cardiomyopathy |
ORPHA:66634 |
Lig4 Syndrome |
|
Hepatomegaly, Telangiectasia of the skin, Hypothyroidism, Type II diabetes mellitus |
ORPHA:99812 |
Alveolar Echinococcosis |
|
Biliary cirrhosis, Cutaneous abscess, Decreased liver function, Abnormal mesentery morphology, Po... |
ORPHA:284 |
Methylmalonic Aciduria, Cbla Type |
|
Pancytopenia, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia, Dehydration |
OMIM:251100 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Type I diabetes mellitus, Congenital contracture, Sinus bradycardia, Joint contracture, Flexion c... |
OMIM:618397 |
4H Leukodystrophy |
|
Decreased response to growth hormone stimulation test, Hypogonadotropic hypogonadism, Abnormality... |
ORPHA:289494 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leu... |
OMIM:127550 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Hypothyroidism, Small for gestational age, Failure to thrive |
OMIM:619147 |
Fanconi Anemia, Complementation Group R |
|
Anemia, Bone marrow hypocellularity, Hydrocephalus |
OMIM:617244 |
Abcd Syndrome |
|
Polycythemia, Neonatal death |
OMIM:600501 |
Thyroid Ectopia |
|
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Abnormality of ... |
ORPHA:95712 |
Kasabach-Merritt Phenomenon |
|
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Petechiae, Neutropenia, Thrombocy... |
ORPHA:2330 |
Cowden Syndrome 1 |
|
Thyroid adenoma, Subcutaneous lipoma, Goiter, Hypothyroidism, Hyperthyroidism, Thyroiditis |
OMIM:158350 |
Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Dilated third ventricle, Dandy-Walker malformation, Bilateral cryptorch... |
ORPHA:434179 |
Senior-Boichis Syndrome |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami... |
ORPHA:84081 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Dilated cardiomyopathy, Inguinal hernia, Hypothyroidism, Truncal obesity, Diabetes mellitus |
OMIM:616541 |
Syndromic Diarrhea |
|
Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Inguinal hernia, Splenomega... |
ORPHA:84064 |
Copper Deficiency, Familial Benign |
|
Anemia |
OMIM:121270 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Telangiectasia of the skin, Hypothyroidism, Umbilical hernia |
ORPHA:85321 |
Prader-Willi Syndrome |
|
Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop... |
ORPHA:739 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anemia, Neutropenia, Anisopoikilocytosis |
OMIM:619835 |
Q Fever |
|
Elevated circulating hepatic transaminase concentration, Granuloma, Hepatitis, Hepatosplenomegaly... |
ORPHA:781 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Type I diabetes mellitus, Failure to thrive, Splenomegaly, Hypothyroidism, Thyroiditis |
OMIM:614700 |
Lujo Hemorrhagic Fever |
|
Hypotension, Shock, Hyperhidrosis, Bradycardia, Myocarditis, Subconjunctival hemorrhage |
ORPHA:319213 |
Mosaic Trisomy 9 |
|
Ventriculomegaly, Intrauterine growth retardation, Oligohydramnios, Cryptorchidism, Spina bifida,... |
ORPHA:99776 |
Isolated Biliary Atresia |
|
Failure to thrive, Hypopituitarism, Splenomegaly, Severe failure to thrive, Hypothyroidism, Hepat... |
ORPHA:30391 |
Acute Disseminated Encephalomyelitis |
|
Cerebral edema, Viral hepatitis, Abnormal thalamic MRI signal intensity |
ORPHA:83597 |
Chediak-Higashi Syndrome |
|
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegaly, Abnormal den... |
OMIM:214500 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Anterior pituitary agenesis, Hypoplastic tricuspid ... |
ORPHA:2255 |
Ring Chromosome 12 Syndrome |
|
Hypothyroidism, Secundum atrial septal defect, Small for gestational age |
ORPHA:1439 |
Fanconi Anemia, Complementation Group F |
|
Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Leukopenia, I... |
OMIM:603467 |
Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Bone marrow hypocellularity, Aplastic anemia, Dry skin, Pancytopenia, Leukopenia, Intrauterine gr... |
OMIM:613990 |
Rhombencephalosynapsis |
|
Fusion of the left and right thalami, Ventriculomegaly, Hydrocephalus |
ORPHA:59315 |
Rh-Null, Amorph Type |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis |
OMIM:617970 |
Jung Syndrome |
|
Hypothyroidism |
ORPHA:2321 |
Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis |
OMIM:266140 |
Medullary Thyroid Carcinoma |
|
Pheochromocytoma, Abnormal liver parenchyma morphology, Lymphadenopathy, Nodular goiter, Primary ... |
ORPHA:1332 |
Familial Gestational Hyperthyroidism |
|
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,... |
ORPHA:99819 |
Degcags Syndrome |
|
Ventriculomegaly, Cholestasis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Polyhydramnios, Cryp... |
OMIM:619488 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... |
ORPHA:1677 |
Shwachman-Diamond Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Persistence of hemoglobin F, Exocrine pa... |
OMIM:260400 |
Reni Syndrome |
|
Hypogonadism, Adrenal insufficiency, Hypothyroidism |
OMIM:617575 |
Incontinentia Pigmenti |
|
Erythema, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Leukocytosis, Pallor, Eosinoph... |
OMIM:308300 |
Ventilator-Induced Diaphragmatic Dysfunction |
|
Hypothyroidism, Hypercapnia |
ORPHA:505395 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612926 |
Bohring-Opitz Syndrome |
|
Congenital contracture, Cardiomegaly, Severe failure to thrive, Abnormal cardiac septum morpholog... |
ORPHA:97297 |
Koolen-De Vries Syndrome |
|
Abnormal dental enamel morphology, Bicuspid aortic valve, Hypothyroidism, Abnormal cardiac septum... |
ORPHA:96169 |
Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Type I diabetes mellitus, Hypothyroidism |
OMIM:620430 |
Pseudohypoparathyroidism Type 1A |
|
Depression, Hyperphosphatemia, Hypocalcemic tetany, Obesity, Confusion, Hypocalcemia, Irritabilit... |
ORPHA:79443 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Bradycardia |
OMIM:608800 |
Tuberous Sclerosis 1 |
|
Precocious puberty, Dental enamel pits, Cardiac rhabdomyoma, Hypothyroidism, Wolff-Parkinson-Whit... |
OMIM:191100 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Syncope, Palpitations, Second degree atrioventricular block, Sinus bradycardia |
OMIM:616812 |
Cardiac Diverticulum |
|
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... |
ORPHA:1686 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612924 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Bone marrow hypocellularity, Lymphopenia, Leukopenia, Dry skin, Reticulocytopenia, B lymphocytope... |
ORPHA:508542 |
3-Methylglutaconic Aciduria Type 7 |
|
Hypothyroidism, Cardiomyopathy |
ORPHA:445038 |
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia |
OMIM:301110 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Umbilical hernia, Decreased response to growth hormone stimulation test, Bilateral camptodactyly,... |
OMIM:619234 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Jaundice, Congenital hypoplastic anemia, Anemia of inadequate production |
OMIM:105600 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal thalamic MRI signal intensity |
ORPHA:444013 |
Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Failure to thrive, Conges... |
ORPHA:137675 |
Adnp Syndrome |
|
Abnormal temper tantrums, Oral-pharyngeal dysphagia, Umbilical hernia, Inguinal hernia, Polyphagi... |
ORPHA:404448 |
Alexander Disease |
|
Precocious puberty, Hypotension, Failure to thrive, Hypertension, Hypothyroidism, Hyperhidrosis, ... |
ORPHA:58 |
Neuroleptic Malignant Syndrome |
|
Hypertensive crisis, Hypotension, Pulmonary embolism, Arrhythmia, Hyperhidrosis, Bradycardia, Tac... |
ORPHA:94093 |
Thyrotoxic Periodic Paralysis |
|
Graves disease, Second degree atrioventricular block, Obesity, Palpitations, Shortened PR interva... |
ORPHA:79102 |
Shwachman-Diamond Syndrome |
|
Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leu... |
ORPHA:811 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Primary hypothyroidism |
OMIM:225050 |
Prolactinoma |
|
Secondary growth hormone deficiency, Pallor, Adrenocorticotropic hormone deficiency, Elevated cir... |
ORPHA:2965 |
Intrahepatic Cholestasis Of Pregnancy |
|
Hypothyroidism, Abnormal pineal melatonin secretion, Small for gestational age |
ORPHA:69665 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Emotional lability, Self-mutilation, Polyphagia, Aggressive behavior, Restlessness |
ORPHA:251028 |
Immunodeficiency 22 |
|
Ascites, Decreased proportion of CD4-positive helper T cells, Abscess, Thrombocytopenia, Anemia |
OMIM:615758 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Pericardial effusion, Hematochezia, Hypothyroidism, Elevated circulating thyroid-stimulating horm... |
OMIM:618183 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612925 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Failure to thrive, Abnormal heart morphology, Atrioventricular canal defect, Ventricular septal d... |
ORPHA:453499 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Abnormal thalamic MRI signal intensity |
ORPHA:254930 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Congenital hypothyroidism, Pulmonary arterial hypertension, Atrial septal defect, Ventricular sep... |
ORPHA:2519 |
X-Linked Acrogigantism |
|
Abnormal oral glucose tolerance, Polyphagia, Fasting hyperinsulinemia, Increased body mass index |
ORPHA:300373 |
Myopathy, Mitochondrial, And Ataxia |
|
Pallor, Increased circulating prolactin concentration |
OMIM:617675 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Decreased circu... |
OMIM:610199 |
Imerslund-Grasbeck Syndrome 2 |
|
Anemia, Megaloblastic anemia |
OMIM:618882 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Type I diabetes mellitus, Failure to thrive in infancy, Splenomegaly, Cachexia, Hypothyroidism, H... |
ORPHA:37042 |
Nephronophthisis 11 |
|
Anemia, Hepatic fibrosis |
OMIM:613550 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Ectopic thyroid, Failure to thrive, Camptodactyly of finger, Atrioventricular canal defect, Ventr... |
ORPHA:3047 |
Microform Holoprosencephaly |
|
Tetralogy of Fallot, Panhypopituitarism, Hypothyroidism, Maternal diabetes |
ORPHA:280200 |
Osteopetrosis, Autosomal Recessive 7 |
|
Lateral ventricle dilatation, Splenomegaly, Hepatomegaly, Hydrocephalus, Anemia |
OMIM:612301 |
Woodhouse-Sakati Syndrome |
|
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Abnormal T-wave, Decreased respon... |
ORPHA:3464 |
7Q11.23 Microduplication Syndrome |
|
Self-injurious behavior, Obesity, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive be... |
ORPHA:96121 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Hypothyroidism, Delayed puberty, Achilles t... |
OMIM:616263 |
Mccune-Albright Syndrome |
|
Precocious puberty, Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level,... |
OMIM:174800 |
Thyroid Hypoplasia |
|
Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
Trichohepatoneurodevelopmental Syndrome |
|
Exocrine pancreatic insufficiency, Splenomegaly, Ventricular septal defect, Decreased body weight... |
OMIM:618268 |
Hydranencephaly |
|
Atrophic pituitary gland, Ventriculomegaly, Dysgenesis of the thalamus, Intrauterine growth retar... |
ORPHA:2177 |
Sarcoidosis |
|
Hepatic failure, Chylothorax, Decreased liver function, Abnormal lymph node morphology, Parotitis... |
ORPHA:797 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Type II diabetes melli... |
OMIM:269200 |
Tbck-Related Intellectual Disability Syndrome |
|
Decreased response to growth hormone stimulation test, Central adrenal insufficiency, Ventricular... |
ORPHA:488632 |
Aicardi-Goutières Syndrome |
|
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Multiple joint contractures, Cardiomegaly, Hypot... |
ORPHA:51 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Cardiomyopathy, Punctate vasculitis skin lesions, Telangiectasia, Co... |
ORPHA:247691 |
Neuroferritinopathy |
|
T2 hypointense thalamus, Abnormal thalamic MRI signal intensity |
ORPHA:157846 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Decreased serum testosterone concentration, Obesity, Streak ovary, Bicuspid aortic valve, Hypothy... |
ORPHA:1772 |
Cenani-Lenz Syndrome |
|
Abnormal dental enamel morphology, Hypothyroidism |
ORPHA:3258 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Abnormal dental enamel morphology, Hypothyroidism, Inguinal hernia, Hypohidrosis |
ORPHA:1812 |
Osteopetrosis, Autosomal Recessive 3 |
|
Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis |
OMIM:259730 |
Pearson Syndrome |
|
Pancytopenia, Hepatic steatosis, Neutropenia, Hypoparathyroidism, Hepatomegaly, Hypoplastic splee... |
ORPHA:699 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Hypertension, Hypothyroidism, Progressive flexion contractures |
ORPHA:98808 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... |
OMIM:101800 |
Fragile X Tremor/Ataxia Syndrome |
|
Hypothyroidism |
OMIM:300623 |
Weaver Syndrome |
|
Joint contracture of the hand, Umbilical hernia, Inguinal hernia, Polyphagia, Camptodactyly |
OMIM:277590 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Decreased response to growth hormone stimulation test, Congenital hypothyroidism |
OMIM:601427 |
Ohdo Syndrome, Sbbys Variant |
|
Hypothyroidism, Dilated cardiomyopathy |
OMIM:603736 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Congestive heart failure, Transient ischemic attack, Abnormality of thyroid ph... |
ORPHA:1830 |
Helsmoortel-Van Der Aa Syndrome |
|
Failure to thrive, Bruxism, Obesity, Irritability, Polyphagia, Attention deficit hyperactivity di... |
OMIM:615873 |
Kikuchi-Fujimoto Disease |
|
Erythema, Elevated circulating hepatic transaminase concentration, Abnormal lymph node morphology... |
ORPHA:50918 |
Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
Galloway-Mowat Syndrome 10 |
|
Congenital hypothyroidism |
OMIM:619609 |
Aicardi-Goutieres Syndrome 7 |
|
Vasculitis, Hematochezia, Hypertrophic cardiomyopathy, Splenomegaly, Hypertension, Hypothyroidism... |
OMIM:615846 |
Immunodeficiency 31C |
|
Splenomegaly, Hypothyroidism, Delayed puberty, Weight loss, Hepatomegaly, Diabetes mellitus |
OMIM:614162 |
Tuberous Sclerosis 2 |
|
Precocious puberty, Cardiac rhabdomyoma, Hypothyroidism, Wolff-Parkinson-White syndrome, Shagreen... |
OMIM:613254 |
Seckel Syndrome 7 |
|
Central hypothyroidism |
OMIM:614851 |
Gaucher Disease Type 3 |
|
Pancytopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Hydrops fetalis, Pericardial ... |
ORPHA:77261 |
Tangier Disease |
|
Dry skin, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Anemia |
ORPHA:31150 |
Spondyloenchondrodysplasia |
|
Vasculitis, Decreased response to growth hormone stimulation test, Hypothyroidism, Raynaud phenom... |
ORPHA:1855 |
Intellectual Developmental Disorder, X-Linked, Syndromic 35 |
|
Central hypothyroidism, Contracture of the proximal interphalangeal joint of the 2nd finger, Ingu... |
OMIM:300998 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Hypothyroidism |
OMIM:251900 |
Abetalipoproteinemia |
|
Failure to thrive, Congestive heart failure, Cardiomegaly, Hypothyroidism, Hepatomegaly |
ORPHA:14 |
Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai... |
ORPHA:1478 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Muscular ventricular septal defect, Hypothyroidism |
OMIM:618569 |
Double Outlet Left Ventricle |
|
Failure to thrive, Cyanosis, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, A... |
ORPHA:3427 |
Absence Of The Pulmonary Artery |
|
Atrial flutter, Congestive heart failure, Abnormal heart morphology, Tetralogy of Fallot, Reduced... |
ORPHA:980 |
22Q11.2 Deletion Syndrome |
|
Hypertensive crisis, Gastrointestinal hemorrhage, Failure to thrive, Umbilical hernia, Abnormal d... |
ORPHA:567 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Abnormal thalamic MRI signal intensity |
ORPHA:70595 |
Leprechaunism |
|
Central hypothyroidism, Failure to thrive, Hyperaldosteronism, Hypertrophic cardiomyopathy, Hyper... |
ORPHA:508 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic valve stenosis, Aortic regurgitation, Small for gestational age, Decreased response to gro... |
ORPHA:268261 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal thalamic MRI signal intensity |
ORPHA:485421 |
Gangliocytoma |
|
Dementia, Polyphagia |
ORPHA:251937 |
Encephalitis Lethargica |
|
Bradycardia |
ORPHA:83600 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Arrhythmia, Compensated hypothyroidism, Abnormal EKG |
ORPHA:480864 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hypothyroidism, Failure to thrive, Thyroiditis |
ORPHA:83471 |
Developmental And Epileptic Encephalopathy 50 |
|
Anemia, Acanthocytosis, Schistocytosis, Anisopoikilocytosis |
OMIM:616457 |
Lymphatic Malformation 6 |
|
Cellulitis, Splenomegaly, Hypothyroidism, Atrial septal defect |
OMIM:616843 |
Alkaptonuria |
|
Aortic valve stenosis, Aortic valve calcification, Abnormal heart valve morphology, Mitral stenos... |
ORPHA:56 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Decreased response to growth hormone stimulation test, Hypothyroidism, Contractures of the large ... |
ORPHA:96179 |
Marburg Hemorrhagic Fever |
|
Hypotension, Subconjunctival hemorrhage, Shock, Orchitis, Hypovolemia, Pancreatitis, Internal hem... |
ORPHA:99826 |
Diaphanospondylodysostosis |
|
Intrauterine growth retardation, Oligohydramnios, Increased nuchal translucency, Abnormal liver l... |
OMIM:608022 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Precocious puberty, Cardiomyopathy, Decreased response to growth hormone stimulation test, Abnorm... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Precocious puberty, Cardiomyopathy, Decreased response to growth hormone stimulation test, Abnorm... |
ORPHA:363958 |
Tay-Sachs Disease |
|
Ventriculomegaly, Abnormal thalamic MRI signal intensity |
ORPHA:845 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypothyroidism |
ORPHA:2479 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Exocrine pancreatic insufficiency, Absence of subcutaneous fat, Portal hypertension, Patent foram... |
OMIM:620005 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Anemia, Lymphopenia, Abnormality of the pancreas |
ORPHA:935 |
Nephronophthisis 4 |
|
Anemia |
OMIM:606966 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Self-injurious behavior, Fixated interests, Umbilical hernia, Hypocalcemia, Emotional lability, H... |
OMIM:620330 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Epistaxis, Failure to thrive, Pulmonary venous hypertension, Hypothyroidism, Pancreatitis, Delaye... |
ORPHA:79259 |
Craniopharyngioma |
|
Polyphagia, Obesity, Type II diabetes mellitus |
ORPHA:54595 |
Beckwith-Wiedemann Syndrome |
|
Visceromegaly, Umbilical hernia, Exocrine pancreatic insufficiency, Hypertrophic cardiomyopathy, ... |
ORPHA:116 |
Tyrosinemia, Type I |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ... |
OMIM:276700 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Adrenal pheochromocytoma, Pallor, Extraadrenal pheochromocytoma |
ORPHA:276621 |
Aorta Coarctation |
|
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... |
ORPHA:1457 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Microphthalmia, Syndromic 2 |
|
Aortic valve stenosis, Umbilical hernia, Adrenal insufficiency, Mitral valve prolapse, Contractur... |
OMIM:300166 |
Liver Disease, Severe Congenital |
|
Portal inflammation, Hepatic steatosis, Pulmonary edema, Abnormal hepatic echogenicity, Hepatomeg... |
OMIM:619991 |
Martin-Probst Syndrome |
|
Telangiectasia, Hypothyroidism, Umbilical hernia |
OMIM:300519 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Intrauterine growth retardation, Hydranencephaly, Abnormality of the diencephalon |
ORPHA:2570 |
Meningioma |
|
Secondary growth hormone deficiency, Hypothalamic hypothyroidism, Increased circulating prolactin... |
ORPHA:2495 |
Down Syndrome |
|
Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular canal defect, Paten... |
OMIM:190685 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Tricuspid regurgitation, Inguinal hernia, Congenital diaphragmatic hernia, Scarring, Pulmonary ar... |
OMIM:614437 |
Familial Adenomatous Polyposis |
|
Abnormal cementum morphology, Pituitary adenoma, Goiter, Abnormality of the thyroid gland, Hypoth... |
ORPHA:733 |
Chromosome Xq26.3 Duplication Syndrome |
|
Polyphagia |
OMIM:300942 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Congenital hypothyroidism, Palmoplantar hyperhidrosis, Contractures of the large joints, Failure ... |
OMIM:617527 |
Myasthenia Gravis |
|
Primary adrenal insufficiency, Hashimoto thyroiditis, Hyperthyroidism, Raynaud phenomenon, Abnorm... |
ORPHA:589 |
Yellow Fever |
|
Pancreatic hyperplasia, Shock, Reduced left ventricular ejection fraction, Supraventricular arrhy... |
ORPHA:99829 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Hypothyroidism, Subvalvular aortic stenosis, Atrial septal defect |
ORPHA:1052 |
Multiple Endocrine Neoplasia Type 2 |
|
Thyroid C cell hyperplasia, Cervical lymphadenopathy, Pheochromocytoma, Pallor, Neoplasm of the l... |
ORPHA:653 |
Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... |
OMIM:306955 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Congestive heart failure, Decreased response to growth hormone stimulation test, Abnormal heart m... |
ORPHA:444077 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Tricuspid regurgitation, Mitral regurgitation, Sinus bradycardia |
OMIM:261990 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Type I diabetes mellitus, Congestive heart failure, Hepatosplenomegaly, Patent foramen ovale, Pri... |
ORPHA:391487 |
Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Central hypothyroidism, Decreased circulating ACTH concentration, Te... |
OMIM:620305 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Dilated cardiomyopathy, Enamel hypoplasia, Failure to thrive, Bradycardia |
ORPHA:79404 |
Amoebiasis Due To Free-Living Amoebae |
|
Increased red blood cell count, Granuloma, Skin ulcer, Abnormal hypothalamus morphology, Cerebral... |
ORPHA:68 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypotension, Hypothyroidism, Hypertension |
ORPHA:93256 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Congenital hypothyroidism, Patent foramen ovale, Aplasia of the thymus, Hypothyroidism, Pulmonary... |
OMIM:620186 |
Williams Syndrome |
|
Type II diabetes mellitus, Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect... |
ORPHA:904 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Adrenal pheochromocytoma, Pallor, Extraadrenal pheochromocytoma |
ORPHA:29072 |
Digeorge Syndrome |
|
Parathyroid hypoplasia, Umbilical hernia, Tetralogy of Fallot, Obesity, Inguinal hernia, Splenome... |
OMIM:188400 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Hypothyroidism, Raynaud phenomenon |
OMIM:607944 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic valve, Hypothyroidism, Hype... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic valve, Hypothyroidism, Hype... |
ORPHA:352665 |
Rothmund-Thomson Syndrome Type 1 |
|
Hypogonadism, Abnormal dental enamel morphology, Telangiectasia, Hypothyroidism, Small for gestat... |
ORPHA:221008 |
Phace Association |
|
Congenital hypothyroidism, Ventricular septal defect, Lingual thyroid |
OMIM:606519 |
Alobar Holoprosencephaly |
|
Central hypothyroidism, Failure to thrive, Decreased response to growth hormone stimulation test,... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central hypothyroidism, Failure to thrive, Decreased response to growth hormone stimulation test,... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central hypothyroidism, Failure to thrive, Decreased response to growth hormone stimulation test,... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Central hypothyroidism, Failure to thrive, Decreased response to growth hormone stimulation test,... |
ORPHA:220386 |
Goodpasture Syndrome |
|
Anemia, Pallor |
OMIM:233450 |
Alternating Hemiplegia Of Childhood |
|
Pallor, Dehydration |
ORPHA:2131 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Central hypothyroidism, Failure to thrive |
OMIM:300912 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prominent U wave, Bidirectional ventricular ectopy, Palpitations, Syncope, Enamel hypoplasia, Hyp... |
OMIM:170390 |
Phace Syndrome |
|
Abnormal heart morphology, Tetralogy of Fallot, Hypothyroidism, Abnormal cardiac septum morpholog... |
ORPHA:42775 |
1P36 Deletion Syndrome |
|
Dilated cardiomyopathy, Failure to thrive, Camptodactyly of finger, Hypogonadism, Abnormal heart ... |
ORPHA:1606 |
Mccune-Albright Syndrome |
|
Precocious puberty, Increased circulating cortisol level, Increased circulating prolactin concent... |
ORPHA:562 |
3-Methylglutaconic Aciduria, Type Viii |
|
Failure to thrive, Bradycardia |
OMIM:617248 |
Neuhauser Syndrome |
|
Primary hypothyroidism |
OMIM:249310 |
Juvenile Nephropathic Cystinosis |
|
Hypothyroidism, Failure to thrive, Hypovolemia |
ORPHA:411634 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Abnormality of exocrine pancreas physiology, Hypothyroidism, Abnormality of endocrine pancreas ph... |
ORPHA:93111 |
Acrocardiofacial Syndrome |
|
Camptodactyly of finger, Tetralogy of Fallot, Mitral stenosis, Ventricular septal defect, Truncus... |
ORPHA:2008 |
Steinert Myotonic Dystrophy |
|
Atrial fibrillation, Male hypogonadism, Dilated cardiomyopathy, Prolonged PR interval, Decreased ... |
ORPHA:273 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Precocious puberty, Increased circulating prolactin concentration, Abnormal heart morphology, Ute... |
ORPHA:438213 |
Williams-Beuren Syndrome |
|
Myxomatous mitral valve degeneration, Umbilical hernia, Coronary artery stenosis, Failure to thri... |
OMIM:194050 |
Gabriele-De Vries Syndrome |
|
Decreased response to growth hormone stimulation test, Patent foramen ovale, Distal arthrogryposi... |
ORPHA:506358 |
Holoprosencephaly 7 |
|
Panhypopituitarism, Fusion of the left and right thalami, Hydrocephalus, Occipital meningocele |
OMIM:610828 |
Truncus Arteriosus |
|
Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morpho... |
ORPHA:3384 |
Stüve-Wiedemann Syndrome |
|
Camptodactyly of finger, Elbow flexion contracture, Knee flexion contracture, Hypothyroidism, Fle... |
ORPHA:3206 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Dilated cardiomyopathy, Camptodactyly of finger, Tetralogy of Fallot, Congenital hypothyroidism, ... |
OMIM:607872 |
Hallermann-Streiff Syndrome |
|
Hypothyroidism, Congestive heart failure |
ORPHA:2108 |
Cystinosis, Nephropathic |
|
Male hypogonadism, Failure to thrive, Exocrine pancreatic insufficiency, Failure to thrive in inf... |
OMIM:219800 |
Bardet-Biedl Syndrome |
|
Cardiomyopathy, Hypogonadism, Abnormal heart morphology, Obesity, Type II diabetes mellitus, Chil... |
ORPHA:110 |
White-Kernohan Syndrome |
|
Obesity, Hypothyroidism |
OMIM:619426 |
Esophageal Atresia |
|
Polyhydramnios, Pallor |
ORPHA:1199 |
Cerebrotendinous Xanthomatosis |
|
Hypothyroidism, Abnormal atrial septum morphology |
ORPHA:909 |
Charge Syndrome |
|
Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Secundum atrial septal defect, Umbilica... |
OMIM:214800 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Failure to thrive, Corneal scarring, Splenomegaly, Corneal neovascularization, Decreased resting ... |
ORPHA:404454 |
Duplication Of The Pituitary Gland |
|
Polyhydramnios, Abnormal hypothalamus morphology, Encephalocele, Abnormal pituitary gland morphology |
ORPHA:314621 |
Bilateral Polymicrogyria |
|
Arthrogryposis multiplex congenita, Central hypothyroidism |
ORPHA:268940 |
Down Syndrome |
|
Secundum atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Atrioventricular canal defe... |
ORPHA:870 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Congenital hypothyroidism, Thyroid hypoplasia |
ORPHA:521445 |
Cutis Marmorata Telangiectatica Congenita |
|
Telangiectasia of the skin, Hypothyroidism |
ORPHA:1556 |
Coffin-Siris Syndrome 12 |
|
Failure to thrive, Tetralogy of Fallot, Patent foramen ovale, Hypothyroidism, Heart murmur |
OMIM:619325 |
Johanson-Blizzard Syndrome |
|
Dilated cardiomyopathy, Failure to thrive, Exocrine pancreatic insufficiency, Situs inversus tota... |
OMIM:243800 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Abnormality of thyroid physiology, Atrial septal defect |
OMIM:300968 |
Viss Syndrome |
|
Coronary sinus enlargement, Failure to thrive, Umbilical hernia, Inguinal hernia, Mitral valve pr... |
OMIM:619472 |
Bickerstaff Brainstem Encephalitis |
|
Abnormal thalamic MRI signal intensity |
ORPHA:79138 |
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Hypothyroidism |
ORPHA:457212 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Congenital hypothyroidism, Failure to thrive |
OMIM:616973 |
Holt-Oram Syndrome |
|
Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Ventricular septal de... |
OMIM:142900 |
Schinzel-Giedion Syndrome |
|
Central hypothyroidism, Umbilical hernia, Abnormal heart morphology, Failure to thrive in infancy... |
ORPHA:798 |
Fibrous Dysplasia Of Bone |
|
Precocious puberty in females, Increased circulating cortisol level, Thyroid carcinoma, Hyperpitu... |
ORPHA:249 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2165 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Ventriculomegaly, Pallor, Hydrocephalus |
OMIM:253280 |
Townes-Brocks Syndrome 1 |
|
Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect, Hypothyroidism, Atrial septal d... |
OMIM:107480 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... |
ORPHA:99125 |
Townes-Brocks Syndrome |
|
Failure to thrive, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Hypothyroidism, Dela... |
ORPHA:857 |
Infantile Nephropathic Cystinosis |
|
Abnormality of thyroid physiology, Failure to thrive |
ORPHA:411629 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Congenital hypothyroidism |
OMIM:271510 |
Peters Plus Syndrome |
|
Hypoplastic left heart, Umbilical hernia, Congenital hypothyroidism, Inguinal hernia, Abnormal ca... |
ORPHA:709 |
Genitopatellar Syndrome |
|
Knee flexion contracture, Hip contracture, Ventricular septal defect, Hypothyroidism, Atrial sept... |
OMIM:606170 |
Microphthalmia, Syndromic 6 |
|
Abnormality of the hypothalamus-pituitary axis, Failure to thrive, Hypothyroidism, Adrenal hypopl... |
OMIM:607932 |
Alström Syndrome |
|
Insulin resistance, Obesity, Hyperinsulinemia, Type II diabetes mellitus, Dorsocervical fat pad, ... |
ORPHA:64 |
Wiedemann-Rautenstrauch Syndrome |
|
Increased subcutaneous truncal adipose tissue, Failure to thrive, Increased circulating prolactin... |
ORPHA:3455 |
Pmm2-Cdg |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Anasarca, Increased ci... |
ORPHA:79318 |
Sponastrime Dysplasia |
|
Precocious puberty, Hypothyroidism, Small for gestational age |
ORPHA:93357 |
Sotos Syndrome |
|
Ankle flexion contracture, Umbilical hernia, Abnormal heart morphology, Inguinal hernia, Hip cont... |
ORPHA:821 |
Primrose Syndrome |
|
Hip contracture, Knee flexion contracture, Hypothyroidism, Delayed puberty, Truncal obesity, Flex... |
OMIM:259050 |
Kabuki Syndrome 1 |
|
Premature thelarche, Congenital hypothyroidism, Atrial septal defect, Ventricular septal defect |
OMIM:147920 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Sinus bradycardia |
OMIM:619482 |
Doors Syndrome |
|
Congenital hypothyroidism, Double outlet right ventricle, Adrenal hyperplasia |
ORPHA:79500 |
Ring Chromosome 13 Syndrome |
|
Primary hypothyroidism |
ORPHA:96176 |
Norrie Disease |
|
Cryptorchidism, Abnormality of the diencephalon |
ORPHA:649 |