| Hypertension, Essential |
|
Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure |
OMIM:145500 |
| Intracranial Hypertension, Idiopathic |
|
Hypertension |
OMIM:243200 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension |
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension |
OMIM:605572 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
| Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
| Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hypertension |
OMIM:166990 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
| Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Hypertension |
OMIM:618464 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypertension, Myocardial infarction |
OMIM:608320 |
| Paramyotonia Congenita Of Von Eulenburg |
|
Handgrip myotonia, Myotonia of the upper limb, Myotonia, Facial muscle hypertrophy, Myotonia of t... |
ORPHA:684 |
| Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
| Polycystic Kidney Disease 7 |
|
Hypertension |
OMIM:620056 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
| Epilepsy With Bilateral Occipital Calcifications |
|
Celiac disease |
OMIM:226810 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ... |
OMIM:314050 |
| Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
| Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
| Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
| Preeclampsia/Eclampsia 1 |
|
Hypertension |
OMIM:189800 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Type I diabetes mellitus, Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphobla... |
OMIM:620044 |
| Melorheostosis With Osteopoikilosis |
|
Hypertension |
ORPHA:1879 |
| Thrombocytopenia 5 |
|
Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... |
OMIM:616216 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
| Glutamate-Cysteine Ligase Deficiency |
|
Hepatosplenomegaly, Hemolytic anemia, Jaundice, Reticulocytosis |
ORPHA:33574 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Hypertension, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
| Jejunal Atresia |
|
Abnormal abdomen morphology, Jejunal atresia |
OMIM:243600 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
| Brachydactyly-Arterial Hypertension Syndrome |
|
Hypertension |
ORPHA:1276 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Stom... |
OMIM:185000 |
| Myotonia Congenita, Autosomal Recessive |
|
Myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Myotonia with warm-up phenomenon, Dys... |
OMIM:255700 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Hypertension |
ORPHA:2820 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
| Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
| Nail-Patella-Like Renal Disease |
|
Hypertension |
ORPHA:2613 |
| Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
Lacunar stroke, Hypertension, Transient ischemic attack |
OMIM:616779 |
| Hypertension And Brachydactyly Syndrome |
|
Hypertension |
OMIM:112410 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Hyperaldosteronism, Familial, Type Iv |
|
Hypertension |
OMIM:617027 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia |
ORPHA:2802 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Myocardial infarction, Diarrhea, Microangiopathic hemolytic anemia, Arrhythmia, ... |
ORPHA:54057 |
| Cystic Hamartoma Of Lung And Kidney |
|
Hypertension |
ORPHA:2111 |
| Trimethylaminuria |
|
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
| Iga Nephropathy, Susceptibility To, 3 |
|
Hypertension |
OMIM:616818 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Focal Segmental Glomerulosclerosis 5 |
|
Hypertension |
OMIM:613237 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... |
OMIM:224120 |
| Myotonia Congenita, Autosomal Dominant |
|
Handgrip myotonia, Myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Myotonia with warm... |
OMIM:160800 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular volume, Poikilo... |
ORPHA:98870 |
| Harderoporphyria |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Vomiting, Prolonged neonatal jaundice |
OMIM:618892 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Hypertension |
OMIM:613944 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hypertension |
OMIM:607832 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Hypertension, Second degree atriovent... |
OMIM:617021 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
| Focal Segmental Glomerulosclerosis 2 |
|
Hypertension |
OMIM:603965 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
| Reticuloendotheliosis, X-Linked |
|
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly |
OMIM:312500 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Sudden cardiac death, Hypertension, Myocardial infarction |
OMIM:610947 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
| Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Raynaud phenomenon, Hypertension, Impotence, Ischemic stroke, Dysphagia, Achalasia |
OMIM:615750 |
| Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Hypertension |
OMIM:601894 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Anemia |
OMIM:611283 |
| Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... |
ORPHA:488650 |
| Myotonic Dystrophy 1 |
|
Atrial flutter, Atrial fibrillation, Myotonia, First degree atrioventricular block, Facial dipleg... |
OMIM:160900 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
| Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert |
|
Hypertension, Telangiectases producing 'marbled' skin |
OMIM:206570 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Hypogonadism, Poikilocytosis, Elev... |
OMIM:615234 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Ulcerative colitis, Anemia, Bloody diarrhea |
OMIM:619398 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy... |
OMIM:206100 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
| Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
| Periventricular Nodular Heterotopia |
|
Aortic regurgitation, Pyloric stenosis, Gastroesophageal reflux |
ORPHA:98892 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Pyloric stenosis, Arthrogryposis multiplex congenita, Pulmonic stenosis, Camptodactyly |
OMIM:614262 |
| Renal Failure, Progressive, With Hypertension |
|
Hypertension |
OMIM:161900 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Hyperaldosteronism, Familial, Type Ii |
|
Hypertension |
OMIM:605635 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia |
ORPHA:1345 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th... |
OMIM:613839 |
| Majeed Syndrome |
|
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:609628 |
| Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis, Projectile vomiting |
OMIM:179010 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... |
ORPHA:231226 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
| Congenital Atransferrinemia |
|
Abnormality of the pancreas, Hypothyroidism, Anemia |
ORPHA:1195 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Mitral regurgi... |
OMIM:612561 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension |
ORPHA:401945 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis |
OMIM:300653 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Jaundice, Sphero... |
ORPHA:71275 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis |
OMIM:611590 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Megaloblastic anemia, Anisopoikilo... |
ORPHA:35858 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
| Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee flexion contrac... |
OMIM:619040 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
| Immunodeficiency 96 |
|
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Decreased circulating t... |
OMIM:619774 |
| Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Hypertension |
OMIM:605115 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Pyloric stenosis, Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper l... |
OMIM:616924 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Leu... |
OMIM:615285 |
| Coproporphyria, Hereditary |
|
Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal coproporphyrin 3, Tach... |
OMIM:121300 |
| Polycystic Kidney Disease 5 |
|
Hypertension |
OMIM:617610 |
| Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri... |
ORPHA:822 |
| Maternally-Inherited Diabetes And Deafness |
|
Malabsorption, Congestive heart failure, Hypertension, Constipation, Arrhythmia, Hypertrophic car... |
ORPHA:225 |
| Liddle Syndrome |
|
Hypertension, Arrhythmia, Cerebral ischemia |
ORPHA:526 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Hypertension |
OMIM:137950 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... |
OMIM:611783 |
| Rippling Muscle Disease 1 |
|
Skeletal muscle hypertrophy, Percussion-induced rapid rolling muscle contractions, Muscle mounding |
OMIM:600332 |
| Lessel-Kubisch Syndrome |
|
Hypertension |
OMIM:618681 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... |
OMIM:617907 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Hypertension |
OMIM:161950 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Myotonia, S... |
ORPHA:98855 |
| Fg Syndrome 3 |
|
Pyloric stenosis, Joint contracture, Chronic constipation, Cryptorchidism |
OMIM:300406 |
| Pseudohypoaldosteronism, Type Iia |
|
Hypertension |
OMIM:145260 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Pancytopenia, Hypertension, Abnormality of the liver, Increased mean corpuscul... |
ORPHA:2169 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... |
ORPHA:231222 |
| Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, Myotonia, Facial hypotonia, First degree atrioventricular block, Encopresis,... |
ORPHA:589821 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ... |
ORPHA:100025 |
| Emery-Dreifuss Muscular Dystrophy |
|
Myotonia, Atrioventricular block, Decreased cervical spine flexion due to contractures of posteri... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Myotonia, Atrioventricular block, Decreased cervical spine flexion due to contractures of posteri... |
ORPHA:98853 |
| Myotonic Dystrophy 2 |
|
Handgrip myotonia, Tachycardia, Myotonia, Premature ventricular contraction, Right bundle branch ... |
OMIM:602668 |
| Brody Disease |
|
Skeletal muscle hypertrophy, Percussion myotonia, Myotonia, Flexion contracture |
OMIM:601003 |
| Acetazolamide-Responsive Myotonia |
|
Skeletal muscle hypertrophy, Myotonia, Dysphagia |
ORPHA:99736 |
| Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
| Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia |
OMIM:153550 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... |
ORPHA:353 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
| Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Reticulocytosis |
OMIM:130600 |
| Rippling Muscle Disease 2 |
|
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Percussion-induced rapid rolling muscle con... |
OMIM:606072 |
| Moyamoya Disease 1 |
|
Inflammatory arteriopathy, Telangiectasia |
OMIM:252350 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypothyroidism, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpus... |
ORPHA:300298 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Myotonia, S... |
ORPHA:98863 |
| Paramyotonia Congenita |
|
Skeletal muscle hypertrophy, Handgrip myotonia, Percussion myotonia, Paradoxical myotonia |
OMIM:168300 |
| Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... |
ORPHA:848 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Nephronophthisis |
|
Anemia |
ORPHA:655 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
| Grange Syndrome |
|
Aortic regurgitation, Hypertension |
ORPHA:79094 |
| Morbid Obesity And Spermatogenic Failure |
|
Congestive heart failure, Hypertension, Myocardial infarction |
OMIM:615703 |
| Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Abnormal cardiac ventricular function, Anemia of inadequate... |
ORPHA:98826 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
| Hypokalemic Periodic Paralysis |
|
Impaired myocardial contractility, Myotonia, Increased intramyocellular lipid droplets, Abnormal ... |
ORPHA:681 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Myotonia, Flexion contracture, Proximal muscle weakness in lower limbs, ... |
OMIM:310440 |
| Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Anemia |
OMIM:617408 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Pyloric stenosis, Elbow flexion contracture, Increased variability in ... |
OMIM:619461 |
| Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
| Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia |
ORPHA:163596 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Centrally nucleated skeletal muscle fibe... |
OMIM:613327 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Vomiting, Congenital sho... |
OMIM:300048 |
| Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
| Zebra Body Myopathy |
|
Handgrip myotonia, Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-gi... |
ORPHA:97240 |
| Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
| Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Hamartomatous polyposis, Multiple... |
ORPHA:251992 |
| Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
| Myotonia, Potassium-Aggravated |
|
Skeletal muscle atrophy, Handgrip myotonia, Myotonia, Skeletal muscle hypertrophy, Percussion myo... |
OMIM:608390 |
| Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... |
OMIM:263400 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertension |
ORPHA:71529 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Hypertrophic cardiomyopathy, Ascites, Anemia |
ORPHA:295 |
| Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Hand muscle atrophy, Distal lower limb amyotrophy, Handgrip myotonia, Myotonia, Camptodactyly of ... |
ORPHA:324442 |
| Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Cardiomyopathy, Hepatic fibrosis, Hypogonad... |
OMIM:613313 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Abnorm... |
ORPHA:86839 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Esophageal varix, Portal hypertension |
OMIM:617068 |
| Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Bilateral cryptorchidism, Pyloric stenosis, High palate |
ORPHA:314575 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis |
ORPHA:713 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Epistaxis, Anemia |
OMIM:616176 |
| Hyperkalemic Periodic Paralysis |
|
Skeletal muscle atrophy, Myotonia, Bowel incontinence, Congestive heart failure, Flexion contract... |
ORPHA:682 |
| Hydrops Fetalis, Nonimmune |
|
Congestive heart failure, Anemia |
OMIM:236750 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypertension, Arrhythmia, Cardiomyopathy |
ORPHA:3222 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... |
ORPHA:231214 |
| Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentra... |
OMIM:232800 |
| Myotonia Fluctuans |
|
Handgrip myotonia, Myotonia of the upper limb, Myotonia of the face, Cold-sensitive myotonia, Myo... |
ORPHA:99734 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Diarrhea, Schistocytosis, Hypertension, Microangiopathic hemolytic anemia, Throm... |
OMIM:235400 |
| Acute Erythroid Leukemia |
|
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia |
ORPHA:318 |
| Myotonia Permanens |
|
Skeletal muscle hypertrophy, Myotonia, Generalized muscle hypertrophy, Dysphagia |
ORPHA:99735 |
| Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Denys-Drash Syndrome |
|
Hypertension |
ORPHA:220 |
| Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
| Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Skeletal muscle atrophy, Myotonia |
OMIM:254950 |
| Familial Cylindromatosis |
|
Telangiectasia of the skin |
ORPHA:211 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Muscular Dystrophy, Barnes Type |
|
Myopathy, Myotonia, Muscular dystrophy |
OMIM:158800 |
| Elliptocytosis 3 |
|
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... |
OMIM:617948 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Transient ischemic attack, Myocardial infarction, Jaundice, Schistocytosis, Micr... |
OMIM:274150 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Increased muscle glycogen content, Skeletal muscle atrophy, Myotonia |
ORPHA:371 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Pyloric stenosis |
OMIM:188025 |
| Hyperaldosteronism, Familial, Type I |
|
Hypertension |
OMIM:103900 |
| Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
| Pseudohypoaldosteronism Type 2 |
|
Hypertension |
ORPHA:757 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hypertension |
OMIM:600666 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypertension, Myocardial infarction |
ORPHA:54370 |
| Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
| Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume, Bone ma... |
OMIM:127550 |
| Hyperlysinemia, Type I |
|
Anemia |
OMIM:238700 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly |
OMIM:273680 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia |
OMIM:616959 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
| Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Pyloric sten... |
ORPHA:169189 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
| Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis |
ORPHA:664 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, C... |
OMIM:618278 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Pyloric stenosis |
OMIM:226700 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibo... |
OMIM:613101 |
| Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Skeletal muscle hypertrophy, Myotonia, Firm muscles |
OMIM:255710 |
| External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Pyloric stenosis |
OMIM:133705 |
| Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Myotonia, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hypertrophy, Lower limb mu... |
ORPHA:209335 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Anemia |
ORPHA:1802 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Houge-Janssens Syndrome 1 |
|
Congenital muscular torticollis, Chronic diarrhea, Facial hypotonia, Pyloric stenosis |
OMIM:616355 |
| Primary Familial Polycythemia |
|
Epistaxis, Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Hypertension, Mitral re... |
OMIM:614473 |
| Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... |
OMIM:601346 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... |
ORPHA:100024 |
| Amyloidosis, Familial Visceral |
|
Hypertension |
OMIM:105200 |
| Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Abnormal left... |
OMIM:540000 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Anisocytosis |
OMIM:604273 |
| Capillary Malformation-Arteriovenous Malformation 2 |
|
Telangiectasia |
OMIM:618196 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Myopathy, Myotonia |
OMIM:170400 |
| Pseudohypoaldosteronism, Type Iib |
|
Hypertension |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hypertension |
OMIM:614495 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Pe... |
OMIM:617052 |
| Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Flexion contracture, Congenital pyloric atresia |
OMIM:612138 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... |
OMIM:603552 |
| Atransferrinemia |
|
Congestive heart failure, Abnormality of the liver, Hypochromic anemia |
OMIM:209300 |
| Myopathy, Centronuclear, X-Linked |
|
Facial palsy, Pyloric stenosis, Cryptorchidism, Flexion contracture, High palate, Diaphragmatic e... |
OMIM:310400 |
| Tempi Syndrome |
|
Telangiectasia, Intracranial hemorrhage, Increased circulating IgG level, Increased hematocrit, A... |
ORPHA:284227 |
| Trisomy 18P |
|
Bilateral cryptorchidism, High, narrow palate, Pyloric stenosis, Facial palsy |
ORPHA:1715 |
| Richieri Costa-Da Silva Syndrome |
|
Handgrip myotonia, Decreased muscle mass, Myotonia of the upper limb, Diastasis recti, Skeletal m... |
ORPHA:3101 |
| Liddle Syndrome 2 |
|
Hypertension |
OMIM:618114 |
| Liddle Syndrome 3 |
|
Hypertension |
OMIM:618126 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
| Cutis Marmorata Telangiectatica Congenita |
|
Hypertension, Telangiectasia |
OMIM:219250 |
| Proximal Myotonic Myopathy |
|
Myotonia |
ORPHA:606 |
| Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Increased circulating IgM ... |
ORPHA:37748 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hypertension |
ORPHA:79084 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:601859 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... |
OMIM:187800 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypertension |
OMIM:201910 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Senior-Loken Syndrome |
|
Hypertension |
ORPHA:3156 |
| Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Pyloric stenosis |
OMIM:617219 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell coun... |
ORPHA:3261 |
| Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia |
OMIM:607616 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:610539 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Pyloric stenosis, Cryptorchidism, Cleft palate, High palate, Bifid uvula |
ORPHA:96184 |
| Glutaric Aciduria Iii |
|
Hypertension |
OMIM:231690 |
| Familial Cervical Artery Dissection |
|
Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral hemorrhage, Hypertension, ... |
ORPHA:36382 |
| Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
| Episodic Ataxia Type 1 |
|
Calf muscle hypertrophy, Myotonia, Nausea |
ORPHA:37612 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... |
ORPHA:811 |
| Gray Platelet Syndrome |
|
Splenomegaly, Epistaxis, Thrombocytopenia |
ORPHA:721 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Esophagitis, Neutropenia |
OMIM:612562 |
| Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Hiatus hernia, Pyloric stenosi... |
ORPHA:3342 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Acute colitis, Myocardial infarction, Leukocytosis, Schistocytosis, Peritonitis,... |
ORPHA:90038 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
| Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
| Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Pyloric stenosis, Gastrointestinal dys... |
ORPHA:363705 |
| Craniofacial Dyssynostosis With Short Stature |
|
Pyloric stenosis, Cryptorchidism |
OMIM:218350 |
| 16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Mitral regurgitation, Increased mean corpuscular volume, Dysphagia, Throm... |
ORPHA:261250 |
| Preeclampsia |
|
Hypertension, Elevated systolic blood pressure, Elevated diastolic blood pressure |
ORPHA:275555 |
| Thomsen And Becker Disease |
|
Myotonia |
ORPHA:614 |
| Fg Syndrome Type 1 |
|
Progressive flexion contractures, Abnormal large intestine morphology, Malrotation of colon, Pylo... |
ORPHA:93932 |
| Normokalemic Periodic Paralysis |
|
Percussion myotonia |
OMIM:170600 |
| Sneddon Syndrome |
|
Intracranial hemorrhage, Hypertension |
ORPHA:820 |
| Mungan Syndrome |
|
Tricuspid regurgitation, Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Hypoper... |
OMIM:611376 |
| Immunodeficiency 46 |
|
Intermittent thrombocytopenia, Chronic diarrhea, Decreased circulating antibody level, Neutropeni... |
OMIM:616740 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis, Hyperinsulinemia |
ORPHA:66518 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
| Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly |
OMIM:615010 |
| Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric ly... |
OMIM:209950 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypertension |
OMIM:202110 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hypertension, Mitral regurgitation |
OMIM:173900 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Episodic hypertension |
OMIM:619483 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Reticulocytopenia, Retinal hemorrhage, Anemia, Bone marrow hypocellulari... |
ORPHA:88 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
| Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Hypotension |
OMIM:611489 |
| Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, Diarrhea, Lymphadenopathy, T lymphocytopenia, Gastroesophageal reflux |
OMIM:608971 |
| Liddle Syndrome 1 |
|
Hypertension |
OMIM:177200 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Cerebral hemorrhage, Anemia, Pulmonary embolism |
OMIM:614514 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertension |
OMIM:613877 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
| Mitchell-Riley Syndrome |
|
Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ... |
OMIM:615710 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hypertension |
OMIM:603278 |
| Marden-Walker Syndrome |
|
Decreased muscle mass, High, narrow palate, Pyloric stenosis, Cryptorchidism, Cleft palate, Conge... |
OMIM:248700 |
| Ulnar-Mammary Syndrome |
|
Camptodactyly of finger, Pyloric stenosis, Cryptorchidism, Aplasia of the pectoralis major muscle... |
ORPHA:3138 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Cardiomyopathy, Cirrhosis, Arrhythmia, Hepatic steatosis, Anemia |
OMIM:606069 |
| Nephronophthisis 18 |
|
Hypertension |
OMIM:615862 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension |
OMIM:616069 |
| Pseudohypoaldosteronism, Type Iie |
|
Hypertension |
OMIM:614496 |
| Castleman Disease |
|
Intestinal obstruction, Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Medi... |
ORPHA:160 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Potocki-Shaffer Syndrome |
|
Hypertension, Hypothyroidism, Anemia, Delayed puberty |
ORPHA:52022 |
| Nephrotic Syndrome, Type 1 |
|
Pyloric stenosis, Gastroesophageal reflux |
OMIM:256300 |
| Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma |
ORPHA:882 |
| Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia, Anemia, Lymphadenopathy |
ORPHA:158014 |
| Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
| Diamond-Blackfan Anemia 5 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia |
OMIM:612528 |
| Postorgasmic Illness Syndrome |
|
Hypertension, Palpitations |
ORPHA:279947 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Hypertension |
OMIM:618061 |
| Riboflavin Transporter Deficiency |
|
Skeletal muscle atrophy, Facial palsy, Hypertension, Hypogonadism, Dysphagia, Limb muscle weakness |
ORPHA:97229 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenome... |
OMIM:612840 |
| 3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Pyloric stenosis, High, narrow palate, Cleft palate, Knee flexion contra... |
ORPHA:435638 |
| Transaldolase Deficiency |
|
Telangiectasia, Anemia, Hepatosplenomegaly, Cirrhosis, Thrombocytopenia |
ORPHA:101028 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Myotonia, Premature ovarian insufficiency |
ORPHA:391307 |
| Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... |
ORPHA:169079 |
| X-Linked Sideroblastic Anemia |
|
Splenomegaly, Anemia |
ORPHA:75563 |
| Hyperkalemic Periodic Paralysis |
|
Myotonia |
OMIM:170500 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
| Trichothiodystrophy 3, Photosensitive |
|
Bilateral cryptorchidism, Pyloric stenosis, Meckel diverticulum |
OMIM:616395 |
| Telangiectasia, Hereditary Benign |
|
Diffuse telangiectasia |
OMIM:187260 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
| Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Anemia |
OMIM:618182 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Hypertension |
ORPHA:181 |
| Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Calf muscle hypertrophy, Hypertension, Infertility, Oligomenorrhea |
ORPHA:280356 |
| Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly |
OMIM:615085 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Myeloproliferative disorder, Restrictive cardiomyopathy |
OMIM:607685 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Diffuse alveolar hemorrhage, Reduced natural killer cell activity, Splenomegaly, Se... |
OMIM:616050 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema... |
ORPHA:2330 |
| Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
| 6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
| Lowry-Maclean Syndrome |
|
Congenital diaphragmatic hernia, Bilateral cryptorchidism, Midgut malrotation, High, narrow palat... |
ORPHA:2409 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Reduced delayed ... |
OMIM:603909 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Pyloric stenosis, Cryptorchidism, Anteriorly placed anus, Small thenar eminence, High palate, Pul... |
OMIM:619148 |
| Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Steatorrhea |
OMIM:613291 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
| Kleefstra Syndrome |
|
Bowel incontinence, Pyloric stenosis, Cryptorchidism, Macroglossia, Gastroesophageal reflux, Cons... |
ORPHA:261494 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Intestin... |
OMIM:243150 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Vasculitis in the skin, Anemia, Hepatomegaly |
OMIM:620296 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly |
OMIM:618107 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Hypertension, Myocardial infarction |
OMIM:618620 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
| Reticular Dysgenesis |
|
Abnormality of neutrophils, Diarrhea, Decreased circulating antibody level, Leukopenia, Aplasia/H... |
ORPHA:33355 |
| Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Myocardial infarction, Splenomegaly, Jaundice, Congestive heart f... |
ORPHA:108 |
| Barth Syndrome |
|
Abnormal mitochondrial morphology |
ORPHA:111 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:616435 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Skeletal muscle atrophy, Hip contracture, Shoulder flexion contracture, Quadriceps muscle weaknes... |
OMIM:255800 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
| Sneddon Syndrome |
|
Hypertension, Ischemic stroke, Cerebral hemorrhage |
OMIM:182410 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:1349 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia,... |
OMIM:613011 |
| Polyarteritis Nodosa |
|
Raynaud phenomenon, Cardiomyopathy, Pericarditis, Hypertension |
ORPHA:767 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Dyspareunia, Telangiectasia of the skin, Malabsorption, Congestive heart failure, Flexion contrac... |
ORPHA:220393 |
| Telangiectasia, Hereditary Hemorrhagic, Type 5 |
|
Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia |
OMIM:615506 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Abnormality of the thyroid gland, Splenomegaly, Abnormal circulating calcium-phosphate regulating... |
ORPHA:417 |
| Cryoglobulinemia, Familial Mixed |
|
Hypertension |
OMIM:123550 |
| Acquired Methemoglobinemia |
|
Tachycardia, Syncope, Vomiting, Palpitations, Arrhythmia, Methemoglobinemia |
ORPHA:464453 |
| Apparent Mineralocorticoid Excess |
|
Hypertension |
OMIM:218030 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hyp... |
ORPHA:699 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R... |
OMIM:105650 |
| Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... |
OMIM:300751 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Percussion myotonia, Nemaline bodies, Gastroesophageal reflux, Elbow contracture |
OMIM:620275 |
| Nephroblastoma |
|
Hypertension |
ORPHA:654 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hypertension |
OMIM:608600 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract a... |
ORPHA:79301 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
| Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas, Duodenal atresia |
ORPHA:1203 |
| Wolman Disease |
|
Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Splenomegaly, Adrenal insufficiency,... |
ORPHA:75233 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased T3/T4 ratio, Congenital hypothyroidism, Constipation, Impaired sensitivity to thyroid h... |
OMIM:614450 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Jaundice, Diarrhea, Lymphadenopathy, Anemia, Ascites, Thrombocytopenia |
ORPHA:858 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Anemia, Cardiomyopathy, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:79312 |
| Episodic Ataxia, Type 2 |
|
Myotonia |
OMIM:108500 |
| Isolated Ectopia Lentis |
|
Hypertension |
ORPHA:1885 |
| Familial Cerebral Saccular Aneurysm |
|
Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage |
ORPHA:231160 |
| Eisenmenger Syndrome |
|
Ventricular tachycardia, Iron deficiency anemia, Abnormality of the liver, Supraventricular tachy... |
ORPHA:97214 |
| Takayasu Arteritis |
|
Myocardial infarction, Vasculitis, Hypertension, Cerebral ischemia, Pulmonary arterial hypertensi... |
ORPHA:3287 |
| Pituitary Adenoma 1, Multiple Types |
|
Hypertension, Cardiomyopathy |
OMIM:102200 |
| Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Hypertension, Mitral ... |
OMIM:230800 |
| Immunodeficiency 48 |
|
Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly, Diarrhea, Panhypogammaglobulinemia |
OMIM:269840 |
| Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Diarrhea, Reticulocytopenia,... |
OMIM:275350 |
| Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia |
OMIM:618313 |
| Hemochromatosis, Type 3 |
|
Hypogonadotropic hypogonadism, Cardiomyopathy, Cirrhosis, Neutropenia, Lymphopenia, Anemia |
OMIM:604250 |
| Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... |
ORPHA:31825 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, M... |
ORPHA:85450 |
| Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Heart block... |
ORPHA:398124 |
| Formiminoglutamic Aciduria |
|
Anemia, Megaloblastic anemia |
ORPHA:51208 |
| Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ... |
ORPHA:263665 |
| Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Myocardial infarction, Pulmonary embolism, Abnor... |
ORPHA:447 |
| Systemic Lupus Erythematosus 17 |
|
Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis |
OMIM:301080 |
| Duodenal Ulcer, Hyperpepsinogenemic I |
|
Duodenal ulcer |
OMIM:126850 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia |
ORPHA:3204 |
| Immunodeficiency, Common Variable, 10 |
|
Pyloric stenosis, Frequent Giardia lamblia infestation |
OMIM:615577 |
| Zellweger Syndrome |
|
Cryptorchidism, Pyloric stenosis, High palate, Malabsorption |
ORPHA:912 |
| Rhabdoid Tumor |
|
Lymphadenopathy, Anemia, Neoplasm of the liver, Hypertension, Internal hemorrhage, Thrombocytopenia |
ORPHA:69077 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Hypertension |
ORPHA:567544 |
| Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Myotonia, Abnormal muscle fiber morphology, Rhabdomyolysis, Shortened PR i... |
ORPHA:79102 |
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Crypt hyperplasia |
OMIM:613217 |
| Coach Syndrome 2 |
|
Hypertension |
OMIM:619111 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... |
OMIM:308240 |
| Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
| Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:403 |
| Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hypertension |
OMIM:615238 |
| Griscelli Syndrome |
|
Pyloric stenosis |
ORPHA:381 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Decreased activity of mitochondrial complex IV, Hypothermia |
OMIM:616501 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Cleft palate, Gastroesophageal reflux, Pyloric stenosis, Congenital diaphragmatic hernia |
ORPHA:261197 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Anemia, Delayed puberty |
ORPHA:2598 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Hypertension |
OMIM:616733 |
| Immunodeficiency 76 |
|
Splenomegaly, Chronic diarrhea, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia, L... |
OMIM:619164 |
| Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... |
ORPHA:824 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Hypertension |
ORPHA:1192 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... |
ORPHA:85451 |
| Opitz-Kaveggia Syndrome |
|
Anal stenosis, Multiple joint contractures, Intestinal malrotation, Pyloric stenosis, Cryptorchid... |
OMIM:305450 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Diarrhea, Lymphadenopathy, Increased cir... |
OMIM:618495 |
| Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Abnorma... |
OMIM:226990 |
| Porphyria, Acute Intermittent |
|
Tachycardia, Diarrhea, Paralytic ileus, Hypertension, Vomiting, Constipation, Hepatocellular carc... |
OMIM:176000 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... |
OMIM:615513 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Intestinal obstruction, Pulmonary embolism, Diarrhea, Decreased circulating antibod... |
OMIM:226300 |
| Bone Marrow Failure Syndrome 4 |
|
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt... |
OMIM:618116 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
| Cold Agglutinin Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Diarrhea, Lymphadenopathy |
ORPHA:56425 |
| Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Handgrip myotonia, Intestinal pseudo-obstruction, Prolonged QRS complex,... |
ORPHA:273 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity |
OMIM:616871 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital muscular torticollis, Pyloric stenosis, Submucous cleft hard palate, Chronic diarrhea,... |
ORPHA:457279 |
| Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
| Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Cryptorchidism, Congenital pyloric atresia |
ORPHA:2617 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Aganglionic megacolon, Flexion contracture, Interphalangeal thumb joint contracture,... |
OMIM:613870 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Polysplenia, Duodenal atresia |
OMIM:619608 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Myotonia, Flexion contracture |
OMIM:615491 |
| Immunodeficiency 102 |
|
Decreased circulating IgG level, Hepatomegaly, Partial absence of specific antibody response to H... |
OMIM:301082 |
| Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... |
ORPHA:507 |
| Pseudohypoaldosteronism, Type Iic |
|
Hypertension |
OMIM:614492 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Intestinal malrotation, Hypoperistalsis, Cryptorchidism, Hypertension, Pulmonary arterial hyperte... |
OMIM:613834 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex IV, Hy... |
OMIM:245400 |
| Esophageal Atresia |
|
Barrett esophagus, Intestinal malrotation, Pyloric stenosis, Gastrointestinal dysmotility, Anorec... |
ORPHA:1199 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Splenomegaly, Ascites, Anemia |
ORPHA:1046 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Anemia, Intestinal atresia |
ORPHA:3405 |
| Ochoa Syndrome |
|
Hypertension |
ORPHA:2704 |
| Idiopathic Congenital Hypothyroidism |
|
Umbilical hernia, Hypothermia |
ORPHA:95717 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis |
ORPHA:172 |
| Peripartum Cardiomyopathy |
|
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... |
ORPHA:563 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Anemia, Cardiomegaly |
OMIM:620135 |
| Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Hypertension, Cerebral ischemia, Arteritis |
ORPHA:494424 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocyt... |
OMIM:300367 |
| Abetalipoproteinemia |
|
Reticulocytosis, Hepatomegaly, Cardiomegaly, Acanthocytosis, Congestive heart failure, Hypothyroi... |
ORPHA:14 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypertension, Dilated cardiomyopathy, Ischemic stroke, Cerebral hemorrhage |
ORPHA:280679 |
| Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy |
OMIM:618662 |
| Glucocorticoid Resistance, Generalized |
|
Hypertension |
OMIM:615962 |
| Koolen-De Vries Syndrome |
|
Pyloric stenosis, Cryptorchidism, Hypotrophy of the small hand muscles, Narrow palate, Cleft pala... |
OMIM:610443 |
| Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... |
OMIM:603903 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ... |
ORPHA:98850 |
| Koolen-De Vries Syndrome |
|
High, narrow palate, Pyloric stenosis, Cryptorchidism, Narrow palate, Cleft palate |
ORPHA:96169 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Adrenal hypoplasia, Anemia, Leukopenia, Bone marrow hypocellularity, Thro... |
OMIM:619151 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Anemia |
ORPHA:28 |
| Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Hypertension, Epistaxis |
ORPHA:404 |
| Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Decreased muscle mass, Elbow contracture, Pyloric stenosis, Cryptorchidism, Clef... |
OMIM:617137 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased... |
OMIM:617780 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells, Decreased ci... |
OMIM:620282 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Pyloric stenosis, Flexion contracture, Elbow flexion contracture, Cryptorchidism |
OMIM:614438 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
| Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Exocrine panc... |
OMIM:612714 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo... |
OMIM:301078 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Anemia, Leukopenia, Cardiomyopathy, Pancreatitis, Thrombocytopenia |
ORPHA:27 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... |
ORPHA:103907 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus, Duodenal atresia |
ORPHA:3004 |
| Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Hypertension, Congenital thromboc... |
OMIM:618886 |
| Riboflavin Deficiency |
|
Hypothermia |
OMIM:615026 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
| Acute Transverse Myelitis |
|
Orthostatic hypotension, Gastroparesis, Subarachnoid hemorrhage, Paralytic ileus, Upper limb musc... |
ORPHA:139417 |
| Chronic Granulomatous Disease |
|
Pyloric stenosis, Tracheoesophageal fistula, Malabsorption |
ORPHA:379 |
| Juvenile Paget Disease |
|
Hypertension |
ORPHA:2801 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Transient ischemic attack, Cerebral hemorrhage, Intracranial hemorrhage, Hypertension, Lacunar st... |
ORPHA:136 |
| Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
| Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Skeletal muscle atrophy, Spontaneous esophageal perfor... |
ORPHA:1876 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Chronic diarrhea, Ileus, Hepatitis, Increased circulat... |
OMIM:304790 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease |
OMIM:214900 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Congestive heart failure, Dilated card... |
OMIM:602390 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Multiple joint contractures, Decreased mitochondrial number |
ORPHA:352470 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:605373 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Decreased circulating antib... |
OMIM:300635 |
| Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
| Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer |
ORPHA:3350 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Hypertension |
OMIM:615980 |
| Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Duodenal ulcer |
OMIM:126840 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Impaired ristocetin-induced platelet... |
OMIM:153670 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Portal hypertension, Hypersplenism, ... |
OMIM:278000 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Anemia |
ORPHA:79402 |
| Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Hype... |
ORPHA:64743 |
| Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia |
OMIM:223350 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Camptodactyly of finger, Bowel incontinence, High, narrow palate, Pyloric s... |
ORPHA:261330 |
| Postaxial Acrofacial Dysostosis |
|
Pyloric stenosis, Midgut malrotation, Cleft palate, Cryptorchidism |
OMIM:263750 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Multiple joint contractures, Pyloric stenosis, Cryptorchidism, Gastroesopha... |
ORPHA:464306 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Lymphadenopathy, B... |
OMIM:150550 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Pure red cell aplasia, Autoimmune ... |
ORPHA:436159 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
| Solitary Rectal Ulcer Syndrome |
|
Bloody diarrhea, Hematochezia, Chronic constipation, Bloody mucoid diarrhea, Intermittent diarrhe... |
ORPHA:209964 |
| Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Ascites, Anemia, Hepatomegaly |
ORPHA:2123 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An... |
ORPHA:66529 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Decreased circulating dehydroepiandrosterone-sulfate concentration, Methemoglobinemia, Elevated c... |
OMIM:250790 |
| Diarrhea 9 |
|
Villous atrophy |
OMIM:618168 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Hypertension |
OMIM:166300 |
| Marburg Hemorrhagic Fever |
|
Bloody diarrhea, Leukopenia, Vomiting, Abnormal lymphocyte morphology, Nausea, Internal hemorrhag... |
ORPHA:99826 |
| Stuve-Wiedemann Syndrome 1 |
|
Myotonia, Elbow flexion contracture, Dysphagia, Knee flexion contracture, Pulmonary arterial hype... |
OMIM:601559 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Gastroesophageal reflux, Bone marrow ... |
OMIM:614742 |
| 2Q37 Microdeletion Syndrome |
|
Pyloric stenosis, Congenital diaphragmatic hernia |
ORPHA:1001 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... |
ORPHA:329971 |
| Paroxysmal Hemicrania |
|
Hypertension |
ORPHA:157835 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Joint contracture, Inguinal hernia, Hypothermia |
OMIM:614498 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypothermia |
OMIM:610006 |
| Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
| Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Diarrhea, Hypereosinophilia, Lymphadenop... |
OMIM:615387 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
| Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... |
OMIM:615237 |
| Isolated Agammaglobulinemia |
|
Abnormality of the tonsils, Abnormality of neutrophils, Thrombocytopenia, Diarrhea, Abnormality o... |
ORPHA:229717 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Tachycardia, Congestive heart failure |
ORPHA:90037 |
| Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insuffi... |
ORPHA:309108 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased mitochondrial number |
ORPHA:457050 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
| Stiff Skin Syndrome |
|
Hypertension |
ORPHA:2833 |
| Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia |
OMIM:610333 |
| Schwartz-Jampel Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Myotonia, Shoulder flexion contracture, Cleft palate, S... |
ORPHA:800 |
| Infant Botulism |
|
Cardiac arrest, Bowel incontinence, Xerostomia, Hypertension, Constipation, Hypotension, Dysphagia |
ORPHA:178478 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome... |
OMIM:619463 |
| Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
| Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Vomiting, Hepatic steatosis |
OMIM:614480 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Intestinal obstruction, Recurrent intrapulmonary hemorrhage, Transient ischemic attack,... |
ORPHA:183 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hypertension |
OMIM:615954 |
| Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Diarrhea, L... |
OMIM:603554 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
| Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
| Gaisböck Syndrome |
|
Diabetes mellitus, Angina pectoris, Myocardial infarction, Splenomegaly, Increased mean corpuscul... |
ORPHA:90041 |
| Lesch-Nyhan Syndrome |
|
Anemia |
ORPHA:510 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
| Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:94080 |
| Fanconi Renotubular Syndrome 5 |
|
Hypertension |
OMIM:618913 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave |
ORPHA:231625 |
| Senior-Loken Syndrome 4 |
|
Anemia |
OMIM:606996 |
| Gaucher Disease Type 2 |
|
Splenomegaly, Cardiac arrest, Dysphagia, Hepatomegaly |
ORPHA:77260 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia |
OMIM:612926 |
| Congenital Rubella Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Anemia, Type I diabetes mellitus, Thrombocytopenia |
ORPHA:290 |
| Marshall-Smith Syndrome |
|
Bilateral cryptorchidism, Pyloric stenosis, Cryptorchidism, Premature ventricular contraction, An... |
OMIM:602535 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Malabsorp... |
ORPHA:131 |
| Hyperaldosteronism, Familial, Type Iii |
|
Hypertension |
OMIM:613677 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, A... |
OMIM:616100 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Anemia, Cardiomegaly |
OMIM:618838 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Macrocytic anemia, Cardiomyopathy |
OMIM:619046 |
| Tetrasomy 18P |
|
Achalasia, Syncope |
ORPHA:3307 |
| Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage |
ORPHA:251274 |
| Galactosemia Iii |
|
Splenomegaly, Jaundice, Vomiting, Hepatomegaly |
OMIM:230350 |
| Tularemia |
|
Tachycardia, Mediastinal lymphadenopathy, Leukocytosis, Abnormal nasopharyngeal adenoid morpholog... |
ORPHA:3392 |
| Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hyperparathyroidism, Anemia |
ORPHA:2668 |
| Idiopathic Camptocormia |
|
Myositis, Myotonia, Fatty replacement of skeletal muscle, Abnormal muscle fiber dysferlin, Proxim... |
ORPHA:1320 |
| Relapsing Fever |
|
Tachycardia, Neutrophilia, Epistaxis, Leukocytosis, Jaundice, Diarrhea, Anemia, Leukopenia, Vomit... |
ORPHA:91547 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Tachycardia, Mediastinal lymphadenopathy, Diarrhea, Adrenal overacti... |
ORPHA:139411 |
| Jacobsen Syndrome |
|
Intestinal malrotation, Pyloric stenosis, Cryptorchidism, Abnormality of the anus, Ectopic anus, ... |
ORPHA:2308 |
| Pfapa Syndrome |
|
Splenomegaly, Hepatomegaly, Malabsorption, Lymphadenopathy |
ORPHA:42642 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia |
OMIM:618398 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertension, Myocardial infarction |
OMIM:615812 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia |
OMIM:612924 |
| Spontaneous Periodic Hypothermia |
|
Hypothermia |
ORPHA:29822 |
| Cornelia De Lange Syndrome 1 |
|
Congenital diaphragmatic hernia, Hiatus hernia, Malrotation of colon, High, narrow palate, Pylori... |
OMIM:122470 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Protein-losing enteropathy |
OMIM:615863 |
| Infantile Liver Failure Syndrome 1 |
|
Hepatomegaly, Macrocytic anemia, Hepatic steatosis, Anemia |
OMIM:615438 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... |
OMIM:308230 |
| Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Chronic diarrhea, Thyroiditis, Lymphadeno... |
ORPHA:39041 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Calf muscle pseudohypertrophy, Dysmenorrhea, Congestive heart failure, Abnormality of skeletal mu... |
ORPHA:79083 |
| Essential Thrombocythemia |
|
Transient ischemic attack, Myocardial infarction, Splenomegaly, Abnormal platelet morphology, Acu... |
ORPHA:3318 |
| C3 Glomerulopathy |
|
Hypertension |
ORPHA:329918 |
| Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr... |
ORPHA:79277 |
| Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level, Hypogonadism, ... |
OMIM:618165 |
| Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
| Anti-Glomerular Basement Membrane Disease |
|
Vasculitis, Anemia |
ORPHA:375 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Impaired T cell function, Splenomegaly, Diarrhea, Neutropenia in presence of anti-n... |
OMIM:607594 |
| Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Congestive heart failure, Myoca... |
ORPHA:466677 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
| Immunodeficiency 22 |
|
Decreased circulating IgG level, Pericarditis, Diarrhea, Capillary leak, Anemia, Protracted diarr... |
OMIM:615758 |
| Nephronophthisis 2 |
|
Hypertension, Pulmonary insufficiency |
OMIM:602088 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H... |
ORPHA:158057 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Diabetes mellitus, Mediastinal lymphadenopathy, Diarrhea, Thymoma,... |
ORPHA:169105 |
| Renal Hypodysplasia/Aplasia 1 |
|
Hypertension |
OMIM:191830 |
| Arteriosclerosis, Severe Juvenile |
|
Hypertension, Gastric ulcer, Myocardial infarction |
OMIM:208060 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Abnormal cardiac ventricular function, Pyloric stenosis, Congestive heart failure, Small bowel di... |
ORPHA:90349 |
| Ectopic Aldosterone-Producing Tumor |
|
Hypertension, Epistaxis |
ORPHA:231632 |
| Oslam Syndrome |
|
Anemia |
OMIM:165660 |
| Muckle-Wells Syndrome |
|
Hepatomegaly, Splenomegaly, Vasculitis, Recurrent aphthous stomatitis, Delayed puberty, Anemia |
ORPHA:575 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Liver abscess, Abnormality of the pancreas, Diarrhea, Abnormality of the lymphatic ... |
ORPHA:54251 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Leukocytosis, Lymphadeno... |
ORPHA:98849 |
| Tetanus |
|
Tachycardia, Bowel incontinence, Hypertension, Bradycardia, Dysphagia |
ORPHA:3299 |
| Primary Unilateral Adrenal Hyperplasia |
|
Hypertension, Palpitations, Epistaxis |
ORPHA:231580 |
| Immunodeficiency, Common Variable, 7 |
|
Splenomegaly, Chronic (near) absent circulating IgG4, Chronic diarrhea, Reduced isohemagglutinin ... |
OMIM:614699 |
| Ollier Disease |
|
Precocious puberty, Lymphangioma, Anemia |
ORPHA:296 |
| Alpha-1-Antitrypsin Deficiency |
|
Splenomegaly, Gastric varix, Cirrhosis, Hepatocellular carcinoma |
OMIM:613490 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Abnormal gastric mucosa morph... |
ORPHA:2494 |
| Hydatidiform Mole |
|
Hyperthyroidism, Anemia |
ORPHA:99927 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Thrombocytopenia, Hypertension, Microangiopathic hemolytic anemia, Anemia |
OMIM:612925 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypothermia |
OMIM:614654 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:289916 |
| Eosinophilic Gastroenteritis |
|
Eosinophilia, Leukocytosis, Diarrhea, Dysphagia, Hematochezia, Vomiting, Steatorrhea, Ascites, An... |
ORPHA:2070 |
| Prolidase Deficiency |
|
Hepatomegaly, Splenomegaly, Diffuse telangiectasia, Anemia, Increased circulating antibody level,... |
OMIM:170100 |
| Gaucher Disease, Type Iii |
|
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly |
OMIM:231000 |
| Smith-Lemli-Opitz Syndrome |
|
Aganglionic megacolon, Intestinal malrotation, Pyloric stenosis, Gastrointestinal dysmotility, Cr... |
OMIM:270400 |
| Cinca Syndrome |
|
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia |
OMIM:607115 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Anemia, Tel... |
OMIM:606003 |
| Apert Syndrome |
|
Pyloric stenosis, Esophageal atresia, Cryptorchidism, Narrow palate, Cleft palate, Ectopic anus, ... |
OMIM:101200 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... |
ORPHA:3226 |
| Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Diar... |
OMIM:301500 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Intractable diarrhea, Esophageal atresia, Arthrogryposis multiplex congenita, Congenital pyloric ... |
OMIM:226730 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis |
ORPHA:75234 |
| Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Chronic diarrhea, Ulcerative colitis, Decreased circulating total IgM... |
OMIM:618394 |
| Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Epistaxis, Abnormal number of alpha granules, Spl... |
OMIM:139090 |
| Niemann-Pick Disease, Type A |
|
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Vomiting,... |
OMIM:257200 |
| Poliomyelitis |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal skeletal muscle morphology, Para... |
ORPHA:2912 |
| Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171300 |
| Caudal Regression Syndrome |
|
Decreased muscle mass, Bowel incontinence, Cryptorchidism, Hypertension, Anal atresia |
ORPHA:3027 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammatio... |
OMIM:602347 |
| Stiff-Person Syndrome |
|
Hypertension, Tachycardia |
OMIM:184850 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia |
OMIM:620365 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypertension, Dilated cardiomyopathy, Congestive heart failure, Myocardial infarction |
OMIM:208000 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic regurgitation, Cleft soft palate, Pyloric stenosis, Cryptorchidism, Chordee, Gastroesophag... |
ORPHA:268261 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... |
ORPHA:729 |
| Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
| Mercury Poisoning |
|
Hypertension, Tachycardia, Hypotension |
ORPHA:330021 |
| Alagille Syndrome 2 |
|
Hypertension, Pulmonic stenosis |
OMIM:610205 |
| Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat... |
ORPHA:83469 |
| Heme Oxygenase 1 Deficiency |
|
Hypertension, Epistaxis, Diffuse alveolar hemorrhage |
OMIM:614034 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Cryptorchidism, Hypothermia |
ORPHA:168593 |
| American Trypanosomiasis |
|
Aganglionic megacolon, Myocarditis, Congestive heart failure, Diarrhea, Cardiomyopathy, Arrhythmi... |
ORPHA:3386 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Facial hypotonia, Handgrip myotonia, High palate |
ORPHA:438216 |
| Pediatric-Onset Graves Disease |
|
Hepatomegaly, Atrial fibrillation, Puberty and gonadal disorders, Splenomegaly, Jaundice, Congest... |
ORPHA:525731 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Umbilical hernia, Hypothermia |
ORPHA:226313 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Morgagni diaphragmatic hernia, Pyloric stenosis, Rectal prol... |
OMIM:613177 |
| Nephronophthisis 1 |
|
Hypertension |
OMIM:256100 |
| Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
| Coach Syndrome 3 |
|
Portal fibrosis, Anemia |
OMIM:619113 |
| Morgagni-Stewart-Morel Syndrome |
|
Hypertension |
ORPHA:77296 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Decreased activity of mitochondrial complex IV |
OMIM:619063 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... |
OMIM:607765 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Thrombocytopenia, Congestive heart failure... |
ORPHA:508542 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Conge... |
OMIM:235200 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Ulcerat... |
OMIM:618935 |
| 1P36 Deletion Syndrome |
|
Camptodactyly of finger, Pyloric stenosis, Cryptorchidism, Dilated cardiomyopathy, Telangiectasia... |
ORPHA:1606 |
| Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Stomatitis, Thrombocytopenia |
OMIM:246400 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia, Protein-losing enteropathy, Abnormal T cell morphology |
OMIM:613502 |
| Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, D... |
OMIM:615122 |
| Cirrhosis, Familial |
|
Hypertension, Esophageal varix, Pulmonary arterial hypertension |
OMIM:215600 |
| Familial Thyroid Dyshormonogenesis |
|
Umbilical hernia, Hypothermia |
ORPHA:95716 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Increased circulatin... |
ORPHA:77259 |
| Alport Syndrome 2, Autosomal Recessive |
|
Hypertension |
OMIM:203780 |
| Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Central hypothyroidism, Lymphoc... |
ORPHA:514 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:231095 |
| Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Diarrhea, Lymphaden... |
OMIM:240500 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... |
ORPHA:79124 |
| Degcags Syndrome |
|
Tachycardia, Jejunal atresia, Oral-pharyngeal dysphagia, Protruding tongue, Pyloric stenosis, Hia... |
OMIM:619488 |
| Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:168000 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Hypertension |
OMIM:615830 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Jaundice, Congestive heart failure, Chron... |
ORPHA:90033 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Cardiomyopathy, Decreased circulating cortisol level, Anemia |
OMIM:618839 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Aortic regurgitation, Tricuspid regurgitation, Bilateral cryptorchidism, Pyloric stenosis, Knee f... |
OMIM:617402 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy, Decreased circulating cortisol level, Anemia |
OMIM:618835 |
| Porphyria Variegata |
|
Proximal muscle weakness in upper limbs, Tachycardia, Ileus, Hypertension, Constipation, Hepatoce... |
ORPHA:79473 |
| Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
| Mcleod Syndrome |
|
Hepatomegaly, Atrial fibrillation, Acanthocytosis, Splenomegaly, Dilated cardiomyopathy, Cardiomy... |
OMIM:300842 |
| Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, Abnormal i... |
ORPHA:397596 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia... |
OMIM:613179 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertension |
ORPHA:363400 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Anemia, Hypoplastic spleen, Th... |
OMIM:185070 |
| Frasier Syndrome |
|
Hypertension |
ORPHA:347 |
| Werner Syndrome |
|
Skeletal muscle atrophy, Telangiectasia of the skin, Myocardial infarction, Congestive heart fail... |
ORPHA:902 |
| Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Cerebellar hemorrhage, Anemia, Cardiomyopathy, Vomiting, Constipation... |
OMIM:606054 |
| Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Gastroesophageal r... |
ORPHA:2414 |
| Deafness-Vitiligo-Achalasia Syndrome |
|
Skeletal muscle atrophy, Achalasia |
ORPHA:3239 |
| Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Intracranial hemorrhage, Thr... |
ORPHA:85212 |
| Felty Syndrome |
|
Hepatomegaly, Pericarditis, Splenomegaly, Lymphadenopathy, Anemia, Bone marrow hypocellularity, N... |
ORPHA:47612 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Thrombocytopenia, Chronic ... |
OMIM:557000 |
| Vascular Hyalinosis |
|
Hematochezia, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
| Neutrophilic Dermatosis, Acute Febrile |
|
Small vessel vasculitis, Dilated cardiomyopathy, Anemia |
OMIM:608068 |
| Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
| Osteogenesis Imperfecta, Type X |
|
Pyloric stenosis |
OMIM:613848 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... |
OMIM:617388 |
| Systemic Sclerosis |
|
Flexion contracture, Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morph... |
ORPHA:90291 |
| Lead Poisoning |
|
Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Hyp... |
ORPHA:330015 |
| Scleromyxedema |
|
Abnormality of the gastrointestinal tract, Transient ischemic attack, Hypoperistalsis, Raynaud ph... |
ORPHA:167635 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Anemia |
OMIM:613092 |
| Fanconi Anemia, Complementation Group W |
|
Polysplenia, Duodenal atresia |
OMIM:617784 |
| Familial Benign Copper Deficiency |
|
Anemia |
ORPHA:1551 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
| Colonic Atresia |
|
Peptic ulcer, Abnormal mesentery morphology, Duodenal stenosis, Abdominal situs inversus, Colonic... |
ORPHA:1198 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Skeletal muscle atrophy, Achalasia |
ORPHA:2400 |
| Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
| Distal Deletion 12Q |
|
Unilateral cryptorchidism, High, narrow palate, Esophageal atresia, Pyloric stenosis, Elbow flexi... |
ORPHA:96149 |
| Achalasia-Microcephaly Syndrome |
|
Achalasia |
OMIM:200450 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Recurrent aphthous stomatitis, Lymphadenopathy |
OMIM:611762 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hypertension |
OMIM:604367 |
| Sandifer Syndrome |
|
Hematemesis, Gastroesophageal reflux, Esophagitis, Episodic vomiting, Anemia |
ORPHA:71272 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Diarrhea, Hypertension, Gastroesophageal reflux, Vomiting, ... |
OMIM:223900 |
| Aceruloplasminemia |
|
Diabetes mellitus, Anemia |
OMIM:604290 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Telangiectasia... |
ORPHA:247691 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Gastroesophageal reflux, Increased size of nasopharyngeal adenoids |
OMIM:619769 |
| Overlap Myositis |
|
Proximal muscle weakness in upper limbs, Perifascicular muscle fiber atrophy, Raynaud phenomenon,... |
ORPHA:206572 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenitis, Dilated cardiomyopathy, Congestive heart... |
OMIM:615895 |
| Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ... |
ORPHA:2461 |
| Jacobsen Syndrome |
|
Pyloric stenosis, Flexion contracture, Cryptorchidism |
OMIM:147791 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Inflammation of the large intestine, Colitis, De... |
OMIM:614700 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Hsd10 Mitochondrial Disease |
|
Abnormal mitochondrial morphology |
OMIM:300438 |
| Bardet-Biedl Syndrome |
|
Skeletal muscle atrophy, Cryptorchidism, Hypertension, Hypoplasia of the ovary, Hypogonadism |
ORPHA:110 |
| Multiple Endocrine Neoplasia, Type Iia |
|
Hypertension, Palpitations |
OMIM:171400 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Ab... |
ORPHA:158061 |
| Serrated Polyposis Syndrome |
|
Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic polyposis, Colorectal polyposis... |
ORPHA:157798 |
| Primary Progressive Freezing Gait |
|
Hypertension |
ORPHA:75567 |
| Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Angina pectoris, Transient ischemic attack, Tel... |
ORPHA:324 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Hip contracture, Abnormality of temperature regulation, Hypothermia, Elbow flexion contrac... |
OMIM:618493 |
| Yunis-Varon Syndrome |
|
High, narrow palate, Pyloric stenosis, Cryptorchidism, Renovascular hypertension, Glossoptosis, H... |
ORPHA:3472 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Liver abscess, Acute colitis, Congestive heart failure, Leukocytosis, Dia... |
ORPHA:67 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Pyloric stenosis, Diastasis recti, Anal atresia |
OMIM:618419 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Azoosp... |
OMIM:300845 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:600376 |
| Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Facial palsy, Congesti... |
ORPHA:31826 |
| Intermediate Osteopetrosis |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
| Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Wilson Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Anemia, Cirrhosis, Acute hepatitis, Hepatic stea... |
ORPHA:905 |
| Immunodeficiency 70 |
|
Celiac disease, Achalasia, Colitis |
OMIM:618969 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
| Knobloch Syndrome 2 |
|
Pyloric stenosis, Chronic constipation |
OMIM:618458 |
| Copper Deficiency, Familial Benign |
|
Anemia |
OMIM:121270 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary... |
ORPHA:369929 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Hypogonadism, Cryptorchidism, Testicular seminoma, Abnormal stomach morphology |
ORPHA:281090 |
| Drug-Induced Lupus Erythematosus |
|
Thrombocytopenia, Pericarditis, Prolonged QTc interval, Anemia |
ORPHA:231111 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Neutropenia |
OMIM:617056 |
| Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
| Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Malabsorption, Splenomegaly, Furrowed tongue, Hamartomatous p... |
ORPHA:2930 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pancytopenia, Diabetes mellitus, Anemia, Leukopenia, Pulmonary arterial hypertension, Thrombocyto... |
OMIM:613845 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Hypertension, Atrial fibrillation |
ORPHA:976 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... |
OMIM:619849 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Fetal ascites, Myocarditis, Leukocytosis, Hepatitis, Cholestasis,... |
ORPHA:292 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, Dela... |
OMIM:611881 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Duodenal ulcer |
OMIM:190310 |
| Hypercholanemia, Familial 1 |
|
Fat malabsorption, Steatorrhea |
OMIM:607748 |
| Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... |
ORPHA:220460 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Congestive heart ... |
OMIM:615512 |
| Smith-Lemli-Opitz Syndrome |
|
Aganglionic megacolon, Congenital diaphragmatic hernia, Pyloric stenosis, Cryptorchidism, Cleft p... |
ORPHA:818 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypertension, Second degree atrioventricular block, Pulmonary arterial hypertension |
OMIM:615474 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Hypothermia |
OMIM:608800 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Gastroparesis, Facial palsy, Left bundle branch block, Gastroesophageal reflux, Constipation, Arr... |
OMIM:610131 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myocardial infarction, Splenomegaly, Med... |
ORPHA:3452 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Follicular hyperplasia, Raynaud phenomenon, Increased circulating IgA level, Paratracheal lymphad... |
OMIM:615934 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Hypertension |
OMIM:219080 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Bowel incontinence, Hypertension, Impotence, Hypotension, Dysphagia |
ORPHA:93256 |
| Costello Syndrome |
|
Rhabdomyosarcoma, Pyloric stenosis, Achilles tendon contracture, Macroglossia, Hypertrophic cardi... |
OMIM:218040 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Jaundice, Cholestasis, Hepatosplenomegaly, Bile duct proliferation, Cirrhosis, Fat malabsorption |
ORPHA:79302 |
| Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... |
ORPHA:1414 |
| Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
| Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cardiac arrest, Splenomegaly, Diarrhea, Con... |
ORPHA:99745 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Raynaud phenomenon, Splenomegaly, Leukocytosis, ... |
OMIM:615688 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Steatorrhea, Persistence of hemoglobin F, Ane... |
OMIM:260400 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... |
ORPHA:758 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Hypertension |
OMIM:610475 |
| Feingold Syndrome |
|
Abnormality of the spleen, Annular pancreas, Esophageal atresia, Duodenal atresia |
ORPHA:1305 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Abnormality of exocrine pancreas physiology, Pyloric stenosis |
ORPHA:93111 |
| Monosomy 18P |
|
Hypertension, Cleft palate |
ORPHA:1598 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Diarrhea, Hyperinsulinemia, Syncope, Orthostatic syncope, ... |
ORPHA:230 |
| Hemochromatosis, Type 5 |
|
Anemia, Elevated hepatic iron concentration |
OMIM:615517 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Dystonia, Cardiomegaly |
OMIM:614702 |
| Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Villous atrophy, Microcytic anemia, Malabsorption, Increase... |
ORPHA:398063 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal reticulocyte morphology |
ORPHA:2522 |
| Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Adrenal insuffic... |
OMIM:609981 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Chr... |
OMIM:602450 |
| Arterial Tortuosity Syndrome |
|
Aortic regurgitation, Congenital diaphragmatic hernia, Hiatus hernia, Flexion contracture, Hypert... |
OMIM:208050 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Steatorrhea |
OMIM:235555 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Diabetes mellitus, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis |
OMIM:612526 |
| Coach Syndrome 1 |
|
Hypertension, Esophageal varix, Portal hypertension |
OMIM:216360 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
| Hurler-Scheie Syndrome |
|
Splenomegaly, Abnormality of the tonsils, Cardiomyopathy, Hepatomegaly |
ORPHA:93476 |
| Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Decr... |
ORPHA:99867 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Leukocytosis, Lymphadenopathy, Anemia, Leuk... |
ORPHA:520 |
| Nephronophthisis-Like Nephropathy 1 |
|
Hypertension |
OMIM:613159 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
| Hyperparathyroidism, Neonatal Severe |
|
Hepatomegaly, Splenomegaly, Primary hyperparathyroidism, Elevated circulating parathyroid hormone... |
OMIM:239200 |
| Congenital Contractural Arachnodactyly |
|
Intestinal malrotation, High palate, Tracheoesophageal fistula, Duodenal atresia |
ORPHA:115 |
| Neuroblastoma, Susceptibility To, 1 |
|
Hypertension, Diarrhea, Abdominal mass, Anemia |
OMIM:256700 |
| Acquired Von Willebrand Syndrome |
|
Normocytic anemia, Refractory anemia, Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxi... |
ORPHA:99147 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Thromb... |
OMIM:214500 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis |
OMIM:619658 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypertension |
OMIM:613095 |
| Congenital Factor Ii Deficiency |
|
Intracranial hemorrhage, Joint hemorrhage, Epistaxis, Anemia |
ORPHA:325 |
| Familial Thrombocytosis |
|
Acute myeloid leukemia, Transient ischemic attack, Splenomegaly, Chronic myelogenous leukemia, Pu... |
ORPHA:71493 |
| Glycogen Storage Disease Ixb |
|
Splenomegaly, Diarrhea, Increased hepatic glycogen content, Hepatomegaly |
OMIM:261750 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
| Hereditary Orotic Aciduria |
|
Splenomegaly, Impaired T cell function, Anemia |
ORPHA:30 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Epistaxis, Abnormality of neutrophi... |
ORPHA:33226 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypertension |
OMIM:617763 |
| Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
| Achalasia-Microcephaly Syndrome |
|
Achalasia |
ORPHA:929 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Hepatic fibrosis, Protein-losing enteropathy, Cirrhosis, Steatorrh... |
OMIM:602579 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Reduced natural killer cell activity, Splenomegaly, Jaundice, Lymphadenopathy, Anem... |
ORPHA:540 |
| Spastic Paraplegia Type 7 |
|
Abnormal mitochondrial morphology |
ORPHA:99013 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:259710 |
| Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g... |
ORPHA:1451 |
| Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic syst... |
ORPHA:464329 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Diarrhea, Hepatocellular adenoma, ... |
ORPHA:264580 |
| Acute Intermittent Porphyria |
|
Proximal muscle weakness in upper limbs, Tachycardia, Diarrhea, Ileus, Proximal muscle weakness i... |
ORPHA:79276 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Serotonin Syndrome |
|
Tachycardia, Diarrhea, Rhabdomyolysis, Hypertension, Hypotension, Nausea |
ORPHA:43116 |
| Hennekam Syndrome |
|
Pyloric stenosis, Camptodactyly of finger, Malabsorption |
ORPHA:2136 |
| Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension |
OMIM:613320 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Hypergonadotropic hypogonadism, Reticulocytopenia, Anemia, Neutropenia, Leukemia, T... |
OMIM:600901 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Chronic lympha... |
OMIM:616005 |
| Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Steroid-responsive anemia, Reticulocytopenia, Anemia |
OMIM:613309 |
| Apparent Mineralocorticoid Excess |
|
Hypertension |
ORPHA:320 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Chronic... |
OMIM:300972 |
| Al Amyloidosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal EKG, Howell-Jolly bodies, Gastroparesis, Jaw ... |
ORPHA:85443 |
| Fish-Eye Disease |
|
Splenomegaly, Angina pectoris, Lymphadenopathy, Hepatomegaly |
ORPHA:79292 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Decreased activity of mitochondrial complex I, Decreased activity of mitochondrial complex IV, Hy... |
OMIM:251880 |
| Livedoid Vasculopathy |
|
Pancytopenia, Diabetes mellitus, Telangiectasia of the skin, Leukocytosis, Hypertension, Ischemic... |
ORPHA:542643 |
| Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Splenomegaly, Leukocytosis, Jaundice, Diarrhea, Enterocolitis, Anemia,... |
ORPHA:90051 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia |
ORPHA:169090 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abnormality of the gastrointestinal tract, Intestinal malrotation, Hypoperistalsis, Cryptorchidis... |
ORPHA:2241 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... |
OMIM:256550 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Vasculitis, Lymphadenopathy, Decreas... |
ORPHA:1572 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... |
OMIM:102700 |
| Knobloch Syndrome |
|
Pyloric stenosis |
ORPHA:1571 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Increased circulating antibody level, Lympho... |
OMIM:617591 |
| Schimke Immuno-Osseous Dysplasia |
|
Transient ischemic attack, Congestive heart failure, Hypertension, Abnormal intestine morphology,... |
ORPHA:1830 |
| Familial Bicuspid Aortic Valve |
|
Aortic regurgitation, Hypertension, Aortic valve stenosis, Heart murmur |
ORPHA:402075 |
| Meningococcal Meningitis |
|
Fever, Hypothermia |
ORPHA:33475 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Cryptorchidism, Cleft palate, Narrow palate, Anteriorly placed anus, Hypertension |
ORPHA:1555 |
| Menkes Disease |
|
Hypothermia |
OMIM:309400 |
| Ulnar-Mammary Syndrome |
|
Anal stenosis, Pyloric stenosis, Elbow flexion contracture, Arrhythmia, Anal atresia |
OMIM:181450 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hematemesis, Hypertension, Esophageal varix, Portal hypertension |
OMIM:263200 |
| Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Adrenal hypoplasia, Chronic diarrhea, Anemia, Leukopenia, Intracr... |
OMIM:617053 |
| Simple Cryoglobulinemia |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pericarditis, Myocardial ... |
ORPHA:91139 |
| Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hemolytic anemia, Hepatomegaly, Pericarditis, Gastritis, Splenomegal... |
ORPHA:809 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Gastroparesis, Cryptorchidism, Hypertension, Arrhythmia, Hypertrophic cardiomyopathy |
OMIM:614052 |
| Stromme Syndrome |
|
Accessory spleen, Jejunal atresia, Intestinal malrotation, Cleft palate, Stillbirth, Duodenal atr... |
OMIM:243605 |
| Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Hypergonadotropic hypogonadism, Reticulocytopenia, Anemia, Neutropenia, Leukemia, T... |
OMIM:227650 |
| Aortic Arch Interruption |
|
Aortic regurgitation, Shock, Tricuspid regurgitation, Blood pressure substantially higher in arms... |
ORPHA:2299 |
| Adult-Onset Still Disease |
|
Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Splenomegaly, Leukocytosis... |
ORPHA:829 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Hyperparathyroidism, Anemia |
OMIM:620366 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hypertension, Gastroesophageal reflux |
ORPHA:449291 |
| Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Subdural hemorrhage, Intracranial he... |
ORPHA:169802 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia |
OMIM:614520 |
| Mowat-Wilson Syndrome |
|
Aganglionic megacolon, Pyloric stenosis, Cryptorchidism, Submucous cleft hard palate, Generalized... |
OMIM:235730 |
| Genetic Transient Congenital Hypothyroidism |
|
Umbilical hernia, Hypothermia |
ORPHA:226316 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Flexion contracture, Retinal hemorrhage, Hypertension, Gastroesophageal reflux, High... |
OMIM:614653 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
| Rh-Null, Regulator Type |
|
Hemolytic anemia, Jaundice, Stomatocytosis |
OMIM:268150 |
| Timothy Syndrome |
|
Hypothermia |
OMIM:601005 |
| Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Decreased circulating antibody level |
OMIM:618042 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly |
OMIM:619183 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin, Diabetes insipidus, Prolonged neonatal jaundice |
ORPHA:423479 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Jaundice, Hepatos... |
OMIM:603553 |
| Deafness, Congenital, With Vitiligo And Achalasia |
|
Skeletal muscle atrophy, Achalasia |
OMIM:221350 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Decreased activity of mitochondrial complex I, Mitochondrial hypertrophy, Decreased activity of m... |
OMIM:500013 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:276621 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal mitochondrial morphology |
ORPHA:275872 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Peritoneal effusion, Chronic diarrhea, Abnormal lymphatic vessel... |
ORPHA:90362 |
| Developmental And Epileptic Encephalopathy 50 |
|
Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Dysphagia, Anemia |
OMIM:616457 |
| Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Multiple joint contractures, Gastroparesis, Quadriceps muscle weakness, ... |
ORPHA:70 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Intestinal pseudo-obstruction, Gastroparesis, Ragged-red muscle fibers, Dilated cardiomyopathy, I... |
ORPHA:70595 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal mitochondrial shape, Hypothermia, Decreased activity of mitochondrial complex IV, Flexio... |
ORPHA:17 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Hypergonadotropic hypogonadism, Reticulocytopenia, Anemia, Bone marrow hypocellular... |
OMIM:227645 |
| Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Pancytopenia, Anemia, Vomiting, Neutropenia, Thrombocytopenia |
OMIM:251110 |
| Isolated Sedoheptulokinase Deficiency |
|
Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Cholestatic liver dis... |
ORPHA:440713 |
| Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Acute hepatitis, Spider hemangioma, Splenomegaly, F... |
ORPHA:2137 |
| Cornelia De Lange Syndrome |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Pyloric stenosis, Cryptorchidism, Cleft ... |
ORPHA:199 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Steatorrhea, Malabsorption |
ORPHA:3217 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Hematochezia, Acholic ... |
OMIM:613812 |
| Tsh-Secreting Pituitary Adenoma |
|
Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Supraventricular arr... |
ORPHA:91347 |
| Aorta Coarctation |
|
Congestive heart failure, Hypertension, Pulmonary arterial hypertension |
ORPHA:1457 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:259700 |
| Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Pulmonary embolism, Esophageal varix, Intracranial hemorrhage, Hyper... |
ORPHA:394 |
| Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:269920 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Abnormal esophagus morphology, Gastroe... |
ORPHA:1018 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Anemia, Leukopenia, Hypertrophic cardiomyop... |
OMIM:617303 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypothermia, Decreased circulating carnitine concentration |
ORPHA:159 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hematochezia, Colon ... |
OMIM:174900 |
| Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hepatic fibrosis, Protein-losing ... |
ORPHA:79319 |
| Prader-Willi Syndrome |
|
Gastroparesis, Cryptorchidism, Xerostomia, Primary amenorrhea, Hypertension, Hypogonadism, Infert... |
ORPHA:739 |
| Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma |
OMIM:115310 |
| Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Atrophic gastritis, He... |
OMIM:615846 |
| Abcd Syndrome |
|
Polycythemia |
OMIM:600501 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... |
OMIM:300280 |
| Legionnaires Disease |
|
Pericarditis, Splenomegaly, Jaundice, Myocarditis, Diarrhea, Hepatitis, Lymphadenopathy, Bone mar... |
ORPHA:549 |
| Renal Hypoplasia |
|
Hypertension |
ORPHA:93101 |
| Familial Dysautonomia |
|
Hypertension, Orthostatic hypotension, Tachycardia, Gastroesophageal reflux |
ORPHA:1764 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Hypertension |
OMIM:610489 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroorchidism, Hypercholesterolemia, Umbilical hernia, Hypothermia |
ORPHA:90674 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Diarrhea, Asymmetric septal hypertrophy |
OMIM:252920 |
| Malt Lymphoma |
|
Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Lymphadenopathy, Constipation, Anemia |
ORPHA:52417 |
| Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation, Gastroparesis |
OMIM:277320 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... |
ORPHA:86843 |
| Apert Syndrome |
|
Esophageal atresia, Cleft palate, Narrow palate, Hypertension, Ectopic anus, Bifid uvula |
ORPHA:87 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hypertensive crisis, Nausea, Intestinal perforation, Myocarditis, Diarrhea, Secretory diarrhea, B... |
ORPHA:544482 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Thro... |
OMIM:267700 |
| Acquired Generalized Lipodystrophy |
|
Cardiomyopathy, Abnormal cardiovascular system physiology, Hypertension |
ORPHA:79086 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Hypertension |
OMIM:619758 |
| Q Fever |
|
Hepatomegaly, Pericarditis, Splenomegaly, Myocarditis, Vasculitis, Hepatitis, Hepatosplenomegaly,... |
ORPHA:781 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Fanconi Anemia, Complementation Group R |
|
Bone marrow hypocellularity, Anemia |
OMIM:617244 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc... |
ORPHA:158048 |
| Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Aplasia/Hypoplasia of the tongue, Aplasia of the pectorali... |
ORPHA:1358 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Intermittent thrombocytopenia, Erythroid hypoplasia, Thrombocytopenia, Splenomegaly... |
OMIM:612541 |
| Glycogen Storage Disease Ic |
|
Stomatitis, Spider hemangioma, Hypertension, Inflammation of the large intestine, Hepatocellular ... |
OMIM:232240 |
| Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension, Cleft palate |
OMIM:614424 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Hypertension, Hypotension |
OMIM:174000 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Pyloric stenosis, Contracture of the distal interphalangeal joint of the fingers, Cleft palate, C... |
ORPHA:83617 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Familial Adenomatous Polyposis 4 |
|
Duodenal polyposis, Adenomatous colonic polyposis, Gastric adenocarcinoma |
OMIM:617100 |
| Renal Agenesis |
|
Hypertension |
ORPHA:411709 |
| Birk-Landau-Perez Syndrome |
|
Hypertension |
OMIM:617595 |
| Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level |
ORPHA:2268 |
| Neuroleptic Malignant Syndrome |
|
Tachycardia, Pulmonary embolism, Rhabdomyolysis, Hypertension, Vomiting, Bradycardia, Hypotension... |
ORPHA:94093 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Decreased serum testosterone concentration, Hypogonadotropic hy... |
ORPHA:465508 |
| Low Phospholipid-Associated Cholelithiasis |
|
Hypertension |
ORPHA:69663 |
| Majeed Syndrome |
|
Hepatomegaly, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic microcytic a... |
ORPHA:77297 |
| Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Recurrent intrapulmonary hemorrhage, Pericar... |
ORPHA:900 |
| Galloway-Mowat Syndrome 3 |
|
Hypertension, High palate, Camptodactyly, Hiatus hernia |
OMIM:617729 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Renovascular hypertension, Large vessel vasculitis, Hydrocele testis, Hypertension, Retrograde ej... |
ORPHA:49041 |
| Triple A Syndrome |
|
Abnormality of the calf musculature, Achalasia, Abnormality of the hypothenar eminence |
ORPHA:869 |
| Gaucher Disease, Type Ii |
|
Hepatomegaly, Splenomegaly, Anemia, Gastroesophageal reflux, Dysphagia, Thrombocytopenia |
OMIM:230900 |
| Alstrom Syndrome |
|
Hypergonadotropic hypogonadism, Congestive heart failure, Dilated cardiomyopathy, Irregular menst... |
OMIM:203800 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial ... |
OMIM:157640 |
| Adams-Oliver Syndrome 6 |
|
Splenomegaly, Esophageal varix, Hepatic fibrosis, Portal hypertension |
OMIM:616589 |
| Glycogen Storage Disease Ia |
|
Hypertension, Decreased muscle mass, Intermittent diarrhea, Hepatocellular carcinoma |
OMIM:232200 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammation of the l... |
ORPHA:906 |
| Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
| Alveolar Echinococcosis |
|
Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A... |
ORPHA:284 |
| Cogan Syndrome |
|
Aortic regurgitation, Leukocytosis, Vasculitis, Large vessel vasculitis, Thrombocytosis, Anemia |
ORPHA:1467 |
| Acute Interstitial Pneumonia |
|
Hypertension |
ORPHA:79126 |
| Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Melena, Hypertrophic cardiomyopathy, Par... |
OMIM:276700 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing enteropathy, Gas... |
OMIM:175500 |
| Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, V... |
ORPHA:3260 |
| Sézary Syndrome |
|
Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte m... |
ORPHA:3162 |
| Wagro Syndrome |
|
Hypertension |
OMIM:612469 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Cholestasis, Anemia, Protein-losing enteropathy, Neonatal death, Ascites, Thrombocy... |
OMIM:608104 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Decreased activity of mitochondrial complex I, Increased mitochondrial number |
OMIM:615578 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Hypertension, Oligomenorrhea |
OMIM:219090 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Hypoperistalsis |
OMIM:619365 |
| Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Esophageal atresia, Tracheoesophageal fistula, Thrombocytopenia, Duodenal atresia |
OMIM:300514 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypertension |
ORPHA:251004 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy |
OMIM:212140 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Umbilical hernia, Hypothermia |
ORPHA:90673 |
| Alg6-Cdg |
|
Macroglossia, Abnormality of the liver, Protein-losing enteropathy, Jaundice |
ORPHA:79320 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Celiac disease, Achalasia, Abnormal intestine morphology, Exocrine pancreatic insufficiency |
OMIM:615952 |
| Adrenocortical Carcinoma |
|
Hypertension, Palpitations |
ORPHA:1501 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,... |
ORPHA:892 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Congenital diaphragmatic hernia, Junctional ectopic tachycardia, Cleft palate, Anteriorly placed ... |
OMIM:309801 |
| Alport Syndrome 1, X-Linked |
|
Hypertension |
OMIM:301050 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Dilated cardiomyopathy, Secretory... |
OMIM:619573 |
| Autosomal Dominant Dopa-Responsive Dystonia |
|
Hypertension |
ORPHA:98808 |
| Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Jaundice, Anemia of inadequate production, Congenital hypoplastic anemia |
OMIM:105600 |
| Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Diabetes mellitus, Abnormal mesentery morphology, Cardiomyopathy, Co... |
ORPHA:3463 |
| Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Hypertension, Hepatic hemangioma, Pheochromocytoma, P... |
OMIM:193300 |
| Alexander Disease |
|
Facial palsy, Sudden cardiac death, Bowel incontinence, Hypertension, High palate, Constipation, ... |
ORPHA:58 |
| Alagille Syndrome |
|
Hypertension, Telangiectasia of the skin |
ORPHA:52 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis |
OMIM:608885 |
| Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Syncope, Nausea, Anemia |
ORPHA:71273 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypothermia, Increased circulating free fatty acid level |
ORPHA:26793 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Intestinal perf... |
OMIM:603041 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly |
OMIM:259730 |
| Bronchogenic Cyst |
|
Abnormal esophagus morphology, Abnormality of the diaphragm, Dysphagia, Abnormal stomach morphology |
ORPHA:2357 |
| Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenop... |
ORPHA:91138 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Nausea, Splenomegaly, Diarrhea, Anemia, Leukopenia, Vomiting, Hemophagocytosis, Pan... |
OMIM:222700 |
| Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Hypertension, Impotence, Oligomenorrhea, Hypotension |
ORPHA:95613 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Mowat-Wilson Syndrome |
|
Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Gastrointestinal ... |
ORPHA:2152 |
| Feingold Syndrome 1 |
|
Accessory spleen, Jejunal atresia, Asplenia, Esophageal atresia, Gastrointestinal atresia, Trache... |
OMIM:164280 |
| Beta-Ketothiolase Deficiency |
|
Hypertension, Diarrhea, Vomiting, Hypotension |
ORPHA:134 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Malformation of the hepatic ductal pla... |
OMIM:208540 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Diarrhea, Hepatocellular adenoma, Hepatic fibrosis, Vomiting, Cirrhos... |
ORPHA:79240 |
| Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Delayed p... |
ORPHA:77261 |
| Knobloch Syndrome 1 |
|
Pyloric stenosis |
OMIM:267750 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Achalasia, Esophageal stenosis, Orthostatic hypotension, Dysphagia |
OMIM:615510 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Duodenal atresia |
OMIM:619227 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
| Nephronophthisis 4 |
|
Anemia |
OMIM:606966 |
| Schimke Immunoosseous Dysplasia |
|
Transient ischemic attack, Bilateral cryptorchidism, Hypertension, Cerebral ischemia, Pulmonary a... |
OMIM:242900 |
| Bardet-Biedl Syndrome 1 |
|
Aganglionic megacolon, High, narrow palate, Hypertension, High palate, Hypogonadism, Left ventric... |
OMIM:209900 |
| Interstitial Lung And Liver Disease |
|
Hepatomegaly, Hypothyroidism, Cholestasis, Hepatic fibrosis, Vomiting, Cirrhosis, Thrombocytosis,... |
OMIM:615486 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Cryptorchidism, F... |
ORPHA:261537 |
| Seckel Syndrome 10 |
|
Hypertension, Congestive heart failure |
OMIM:617253 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Hyperthyroidism, Gastritis, Autoimmune thrombocytopenia, Abnormality... |
ORPHA:37042 |
| Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Nausea, Hematemesis, Diarrhea, Capillary leak, Melena, Intracrania... |
ORPHA:340 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Epistaxis, Diarrhea, Irregular menstruation, Hepatocellular adenoma, Enterocolitis, Ulcerative co... |
ORPHA:79259 |
| Hurler Syndrome |
|
Angina pectoris, Camptodactyly of finger, Chronic diarrhea, Macroglossia, Hypertension, Cardiomyo... |
ORPHA:93473 |
| Senior-Boichis Syndrome |
|
Portal hypertension, Malformation of the hepatic ductal plate, Congenital hepatic fibrosis, Chole... |
ORPHA:84081 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Pericarditis, Lymphadenopathy, Hepatomegaly |
ORPHA:85414 |
| Hsd10 Disease, Infantile Type |
|
Choreoathetosis, Hypertrophic cardiomyopathy, Dystonia, Cardiomegaly |
ORPHA:391428 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Flexion contracture, Vomiting, Muscular dystrophy, Congenital pyloric atresia |
ORPHA:158684 |
| Cockayne Syndrome Type 1 |
|
Foot joint contracture, Cryptorchidism, Diarrhea, Hypertension, Male hypogonadism |
ORPHA:90321 |
| Dystonia-Deafness Syndrome 1 |
|
Achalasia, Pseudobulbar paralysis, Cleft palate, Dysphagia |
OMIM:607371 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Hypertension, Atrioventricular block |
ORPHA:371428 |
| Glycogen Storage Disease Ib |
|
Hypertension, Inflammation of the large intestine, Hepatocellular carcinoma |
OMIM:232220 |
| Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Reduced natural killer cel... |
OMIM:608233 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Calcinosis, Hypertension, Gastroesophageal reflux, High palate, Dysphagia |
OMIM:617913 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Hypertension |
OMIM:104200 |
| Renal Hypoplasia, Bilateral |
|
Hypertension |
ORPHA:97362 |
| 8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Hypogonadotropic hypogonadism, Splenomegaly, Spherocytosis, Hypogonadism, Abnor... |
ORPHA:251066 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Hypertension, Shortened PR interval |
OMIM:614947 |
| Fryns Syndrome |
|
Aganglionic megacolon, Intestinal malrotation, Cleft palate, Ectopic anus, Gastroesophageal reflu... |
ORPHA:2059 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic val... |
ORPHA:363618 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Narrow palate, Anteriorly placed anus, Hypertension, High palate, Bifid uvula |
OMIM:123790 |
| Posterior Urethral Valve |
|
Hypertension |
ORPHA:93110 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
High, narrow palate, Scapular winging, High palate, Hypertension |
OMIM:616914 |
| Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Portal hypertension, Hypertension, Lower limb hypertonia, Increased blood pressure,... |
OMIM:619487 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:29072 |
| Progeroid Short Stature With Pigmented Nevi |
|
Premature ovarian insufficiency, Chordee, Aortic valve stenosis, Vomiting, Esophageal ulceration |
OMIM:176690 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
| Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Achalasia |
ORPHA:436174 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... |
ORPHA:90793 |
| Branchiooculofacial Syndrome |
|
Facial palsy, Malrotation of colon, Pyloric stenosis, Cryptorchidism, Elbow flexion contracture, ... |
OMIM:113620 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Leukopenia, Increased circulating IgG le... |
ORPHA:99827 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Constipation, Gastroesophageal reflux, Abnormal hemoglobin, Anemia |
ORPHA:847 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Intestinal pseudo-obstruction, Gastroparesis, Centrall... |
OMIM:607459 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic... |
OMIM:259720 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Cryptorchidism, F... |
ORPHA:261552 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Ane... |
OMIM:612301 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Annular pancreas, Reticulocytopenia, Anemia, Bone m... |
OMIM:227646 |
| Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... |
ORPHA:53035 |
| Chylomicron Retention Disease |
|
Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea |
OMIM:246700 |
| Spondyloenchondrodysplasia |
|
Raynaud phenomenon, Hypertension, Vasculitis |
ORPHA:1855 |
| Au-Kline Syndrome |
|
Cryptorchidism, Cleft palate, Hypertension, Gastroesophageal reflux, High palate, Constipation, B... |
OMIM:616580 |
| Abetalipoproteinemia |
|
Fat malabsorption, Acanthocytosis |
OMIM:200100 |
| Tangier Disease |
|
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Lef... |
ORPHA:31150 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Hypertension, Irregular menstruation, Abnormal libido, Proximal amyotrophy |
ORPHA:189427 |
| Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
| Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Diarrhea, Vomiting, Constipa... |
OMIM:155310 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Hematochezia, Prolonged neonatal ja... |
OMIM:214950 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, High-out... |
OMIM:187300 |
| Myhre Syndrome |
|
Cryptorchidism, Submucous cleft hard palate, Cleft palate, Skeletal muscle hypertrophy, Hypertens... |
ORPHA:2588 |
| Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Bone-marrow foam cells, Hypersplenism, Microvesicular hepatic steatosis, J... |
ORPHA:275761 |
| Syndromic Diarrhea |
|
Aortic regurgitation, Hepatomegaly, Gastritis, Increased mean platelet volume, Splenomegaly, Bloo... |
ORPHA:84064 |
| Menkes Disease |
|
Inguinal hernia, Hypothermia, Atypical scarring of skin, Hernia, Umbilical hernia, Chondrocalcinosis |
ORPHA:565 |
| Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated circulating growth hormone concentration, Spl... |
ORPHA:2796 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Mitral valve prolapse, Hepatosplenomegaly |
ORPHA:309155 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, High, narrow palate, Hy... |
ORPHA:91387 |
| Postinfectious Vasculitis |
|
Cerebral vasculitis, Raynaud phenomenon, Orchitis, Gastrointestinal inflammation, Cardiomyopathy,... |
ORPHA:48435 |
| Congenital Tracheal Stenosis |
|
Fetal ascites, Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel ... |
ORPHA:141127 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypothermia |
OMIM:618775 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Diabetes mellitus, Angina pectoris, Splenomegaly, Vacuolated lymphocytes, Cardiomyo... |
ORPHA:565612 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Skeletal muscle atrophy, Flexion contracture of finger, Camptodactyly, Achalasia, Joint contractu... |
OMIM:609033 |
| Hallermann-Streiff Syndrome |
|
High, narrow palate, Cryptorchidism, Narrow palate, Telangiectasia, Hypertension, High palate, Pu... |
OMIM:234100 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Temperature instability, Flexion contracture, Hypothermia |
ORPHA:99027 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Atrial fibrillation, Gastroparesis, Facial palsy, Quadriceps muscle weakness, Ragged-red muscle f... |
ORPHA:254892 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Multiple Endocrine Neoplasia Type 1 |
|
Duodenal ulcer, Peptic ulcer, Hematemesis, Shortened QT interval, Diarrhea, Melena, Hypertension,... |
ORPHA:652 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenitis, Chronic... |
OMIM:260920 |
| Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Protein-losing enteropathy |
ORPHA:79327 |
| Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Splenomegaly, Microvesicular hepatic steatosis, Macronodular cirr... |
OMIM:619418 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape |
OMIM:610773 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Jaundice, Cholestasis, Steatorr... |
ORPHA:79303 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Fever, Hypothermia |
ORPHA:20 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypertension, Pulmonary embolism |
ORPHA:567546 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Achalasia, Orthostatic hypotension |
OMIM:231550 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Small intestinal dysmotility, Sinus bradycardia, Chronic constipation, Gastroesophageal reflux, D... |
OMIM:619482 |
| Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Vasculitis, My... |
ORPHA:50918 |
| Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Portal hypertension, Celiac disease, Hematemesis, Esop... |
OMIM:301068 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Exaggerated startle response, Cardiomegaly |
OMIM:268800 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymp... |
OMIM:235255 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Atrial septal defect, Exaggerated startle response, Patent foramen ovale, Tremor |
OMIM:620327 |
| Xfe Progeroid Syndrome |
|
Hypertension |
OMIM:610965 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Congenital pyloric atresia, Intestinal atresia |
ORPHA:79403 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Macroglossia, Achalasia, Dysphagia |
ORPHA:79107 |
| Blau Syndrome |
|
Hypertension, Pericarditis |
OMIM:186580 |
| Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, Chronic diarrhea, Agammaglobulinemia, T lymphocy... |
OMIM:300755 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypertension |
OMIM:612780 |
| Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Volvulus, Tracheoeso... |
ORPHA:210122 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypothermia |
OMIM:618329 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Impaired T cell function, Splenomegaly, Diarrhea, Hypogonadism, Decreased serum tes... |
OMIM:201100 |
| Central Hypoventilation Syndrome, Congenital, 1 |
|
Chronic constipation, Ineffective esophageal peristalsis, Aganglionic megacolon, Decreased heart ... |
OMIM:209880 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Copper accumul... |
ORPHA:309854 |
| Alkaptonuria |
|
Myocardial infarction, Hypertension, Thickened Achilles tendon, Prostatitis, Tendon rupture |
ORPHA:56 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Telangiectasia, Hematochezia, Mitral regurgitation, Hepatic arteriovenous malformation... |
OMIM:175050 |
| Alport Syndrome |
|
Hypertension, Vomiting, Dysphagia |
ORPHA:63 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Mitral stenosis |
OMIM:231005 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis |
OMIM:614328 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Intracranial hemorrhage, Hypertension, Irregular menstruation, Testicular adrenal rest tumor |
ORPHA:90795 |
| Nephronophthisis 11 |
|
Hepatic fibrosis, Anemia |
OMIM:613550 |
| Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Spider hemangioma, Hepatic fibrosis, Neoplasm of the gallbladder,... |
ORPHA:171 |
| Tbck-Related Intellectual Disability Syndrome |
|
Cryptorchidism, Hypothermia |
ORPHA:488632 |
| Rat-Bite Fever |
|
Abdominal aseptic abscess, Pericarditis, Parotitis, Lymphadenitis, Myocarditis, Diarrhea, Vomitin... |
ORPHA:31205 |
| Oligomeganephronia |
|
Hypertension |
ORPHA:2260 |
| Fryns Syndrome |
|
Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Esophageal atresia, Cle... |
OMIM:229850 |
| Achalasia, Familial Esophageal |
|
Achalasia, Xerostomia |
OMIM:200400 |
| Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa... |
ORPHA:29073 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Gastroesophageal reflux, Const... |
OMIM:301040 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Gastrointestinal dysmotility, Intestinal malrotation, Duodenal atresia |
OMIM:617798 |
| Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Pancytopenia, Epistaxis, Thrombocytopenia, Splenomegaly, Vacuolate... |
ORPHA:167 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Abnormality of the pancreas, Lymphopenia, Anemia |
ORPHA:935 |
| Brucellosis |
|
Hepatomegaly, Pericarditis, Liver abscess, Transient ischemic attack, Hypersplenism, Thrombocytop... |
ORPHA:1304 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
OMIM:602782 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Hypertension |
ORPHA:730 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypertension |
OMIM:202010 |
| Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Dysphagia, Sea-blue histiocyto... |
OMIM:257220 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Intestinal malrotation, Asplenia, Esophageal atresia, Pulmonary lymphangiectasia, Tracheoesophage... |
OMIM:265380 |
| Fanconi Anemia, Complementation Group F |
|
Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia, Duodenal atresia |
OMIM:603467 |
| Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Abnormal tongue morphology, Diarrhea, Proximal amyotrophy, Neoplasm of the... |
ORPHA:653 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
High, narrow palate, Cryptorchidism, Flexion contracture, Elbow flexion contracture, Decreased fe... |
ORPHA:95699 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Decreased serum leptin, Splenomegaly, ... |
OMIM:269700 |
| Nestor-Guillermo Progeria Syndrome |
|
Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary arterial hypertension, S... |
OMIM:614008 |
| Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Portal vein thrombosis, Pulmonic stenosis, Pulmonary arterial hypert... |
OMIM:616028 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Diabetes mellitus, Portal hypertension, Pancreatic cysts, Splenomegaly, Elevated ci... |
OMIM:610199 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly |
ORPHA:42 |
| Yunis-Varon Syndrome |
|
Pyloric stenosis, Cryptorchidism, Heart murmur, Cardiomyopathy, High palate, Pulmonary arterial h... |
OMIM:216340 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymphangiectasia, Hepatospleno... |
ORPHA:1655 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Hypertension, Infertility, Oligomenorrhea, Oligozoospermia |
ORPHA:786 |
| Occipital Horn Syndrome |
|
Inguinal hernia, Femoral hernia, Scarring, Hypothermia, Hiatus hernia, Atypical scarring of skin,... |
ORPHA:198 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Portal hypertension, Esophageal varix, Hypertens... |
ORPHA:731 |
| Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis, Diarrhea, Chro... |
OMIM:249100 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Decreased mitochondrial number |
ORPHA:352447 |
| Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Raynaud phenomenon, Splenomegaly, Jaundice, Biliary ci... |
OMIM:613471 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Achalasia, Dysphagia |
OMIM:300858 |
| Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Duodenal polyposis, Adenomatous colonic polyposis, Esophageal carcinoma... |
ORPHA:247806 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Tremor, Cardiomyopathy, Intention tremor, Cardiomegaly |
OMIM:105210 |
| Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Telangiectasia of the skin, Abnormalit... |
ORPHA:1775 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Gastritis, Follicular hyperplasia, Splenomegaly, Diarrhea,... |
OMIM:619381 |
| Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Nelson Syndrome |
|
Intracranial hemorrhage, Hypertension |
ORPHA:199244 |
| Denys-Drash Syndrome |
|
Hypertension |
OMIM:194080 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, ... |
ORPHA:567983 |
| Carney Complex |
|
Sertoli cell neoplasm, Neoplasm of the stomach, Testicular neoplasm, Esophageal neoplasm, Congest... |
ORPHA:1359 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Intestinal obstruction, Splenomegaly, Leukocytosis, Peritonitis, Vasculitis, Diarrh... |
ORPHA:32960 |
| Papillorenal Syndrome |
|
Hypertension |
OMIM:120330 |
| Oculoskeletodental Syndrome |
|
Splenomegaly, Hepatomegaly, Macroglossia, Protein-losing enteropathy |
OMIM:618440 |
| Lymphatic Malformation 7 |
|
Ascites, Anemia |
OMIM:617300 |
| Feingold Syndrome Type 1 |
|
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia |
ORPHA:391641 |
| Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... |
OMIM:200995 |
| Familial Osteodysplasia, Anderson Type |
|
Hypertension |
ORPHA:2769 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Protein-losing enteropathy |
OMIM:618154 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
| Isolated Biliary Atresia |
|
Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholic stools, Periporta... |
ORPHA:30391 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:201475 |
| Gardner Syndrome |
|
Neoplasm of the pancreas, Duodenal polyposis, Ampulla of Vater carcinoma, Adenomatous colonic pol... |
ORPHA:79665 |
| Orthostatic Hypotension 1 |
|
Intermittent hypothermia |
OMIM:223360 |
| Microphthalmia, Syndromic 1 |
|
Aganglionic megacolon, High, narrow palate, Rectal prolapse, Pyloric stenosis, Cryptorchidism, Hi... |
OMIM:309800 |
| Juvenile Polyposis Of Infancy |
|
Refractory anemia, Gastrointestinal hemorrhage, High, narrow palate, Rectal prolapse, Adenomatous... |
ORPHA:79076 |
| Young-Onset Parkinson Disease |
|
Gastroparesis, Diarrhea, Male sexual dysfunction, Constipation, Female sexual dysfunction, Nausea |
ORPHA:2828 |
| Scalp-Ear-Nipple Syndrome |
|
Hypertension |
ORPHA:2036 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Cleft palate, Acute lymphoblastic leukemia, Colon cancer, Stomach cancer, A... |
ORPHA:1052 |
| Arima Syndrome |
|
Hypertension, Esophageal varix |
OMIM:243910 |
| Somatomammotropinoma |
|
Hypogonadotropic hypogonadism, Dysmenorrhea, Macroglossia, Mitral regurgitation, Hypertension, Im... |
ORPHA:314769 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Umbilical hernia, Hypothermia |
OMIM:218700 |
| Microform Holoprosencephaly |
|
Cleft palate, Duodenal atresia |
ORPHA:280200 |
| Senior-Loken Syndrome 1 |
|
Anemia |
OMIM:266900 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Mitochondrial hypertrophy |
OMIM:602541 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hypertension |
OMIM:151660 |
| Barth Syndrome |
|
Abnormal mitochondrial morphology |
OMIM:302060 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Achalasia, Gastroesophageal reflux, Cleft palate |
OMIM:600987 |
| Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Cholelithiasis, Thrombocytopenia |
OMIM:263700 |
| Chylomicron Retention Disease |
|
Increased hepatocellular lipid droplets, Acanthocytosis, Steatorrhea, Fat malabsorption, Hepatic ... |
ORPHA:71 |
| Microvillus Inclusion Disease |
|
Villous atrophy, Abnormal small intestinal villus morphology |
ORPHA:2290 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Fever, Hypothermia |
ORPHA:255210 |
| Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Achalasia, Dysphagia |
ORPHA:289483 |
| Orofaciodigital Syndrome I |
|
Hamartoma of tongue, Cleft palate, Tongue nodules, Lobulated tongue, Hypertension, High palate, B... |
OMIM:311200 |
| Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Jaundice, Extr... |
ORPHA:913 |
| Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatic adenocarcinoma, Duodenal polyposis, Stomach cancer, Adenomatous co... |
ORPHA:733 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypothermia |
ORPHA:79282 |
| Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Hypertension, Mitral regurgitation |
OMIM:611962 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Dystonia, Atrial septal defect, Left ventricular ... |
ORPHA:79330 |
| Acromegaly |
|
Hypogonadotropic hypogonadism, Dysmenorrhea, Macroglossia, Mitral regurgitation, Hypertension, Im... |
ORPHA:963 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Leukemia, Cleft palate, Duodenal atresia |
OMIM:257300 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
| Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Premature ovarian insufficiency, Telangiectasia of the skin, Congestive ... |
ORPHA:79474 |
| Orofaciodigital Syndrome Type 1 |
|
Hamartoma of tongue, Cleft palate, Lobulated tongue, Hypertension, High palate, Tongue nodules, E... |
ORPHA:2750 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
| Familial Mediterranean Fever |
|
Pericarditis, Intestinal obstruction, Myocardial infarction, Splenomegaly, Peritonitis, Vasculiti... |
ORPHA:342 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Myocardial infarction, Diarrhea... |
ORPHA:99889 |
| Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
| Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Prolonged QT interval, Hypergonadotropic hypogonadism, Hypertension, Oligomenorrhea |
ORPHA:79443 |
| Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Umbilical hernia, Hypothermia |
ORPHA:226307 |
| Martin-Probst Syndrome |
|
Cryptorchidism, Chordee, Telangiectasia |
OMIM:300519 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Congenital muscular torticollis, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Recta... |
ORPHA:2538 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy |
OMIM:619518 |
| Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Camptodactyly of finger, Flexion contracture, Chronic diarrhea, Heart murmur, Macroglossia, Hyper... |
ORPHA:217085 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the g... |
OMIM:253800 |
| Mgat2-Cdg |
|
Arrhythmia, Gastroesophageal reflux, Reflex asystolic syncope, Gastroparesis |
ORPHA:79329 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Mitochondrial swelling |
ORPHA:397744 |
| Cat Eye Syndrome |
|
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Biliary atresia, Cleft pal... |
OMIM:115470 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Camptodactyly of finger, Flexion contracture, Chronic diarrhea, Heart murmur, Macroglossia, Hyper... |
ORPHA:217093 |
| Cushing Disease |
|
Myocardial infarction, Secondary amenorrhea, Proximal amyotrophy, Hypertension, Capillary fragili... |
ORPHA:96253 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
| Williams Syndrome |
|
Myocardial infarction, Rectal prolapse, Gastroesophageal reflux, Hypogonadotropic hypogonadism, S... |
ORPHA:904 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Premature ovarian insufficiency, Myocardial infarction, Female infertility... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Prolonged QT interval, Premature ovarian insufficiency, Myocardial infarction, Female infertility... |
ORPHA:99228 |
| Monosomy X |
|
Prolonged QT interval, Premature ovarian insufficiency, Myocardial infarction, Female infertility... |
ORPHA:99226 |
| Turner Syndrome |
|
Prolonged QT interval, Premature ovarian insufficiency, Myocardial infarction, Female infertility... |
ORPHA:881 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Decreased activity of mitochondrial complex I, Mitochondrial swelling |
OMIM:618250 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the pancreas, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Gastro... |
ORPHA:2929 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Duodenal atresia |
OMIM:614114 |
| Hyperlipoproteinemia, Type I |
|
Nausea, Splenomegaly, Jaundice, Hepatosplenomegaly, Vomiting, Pancreatitis |
OMIM:238600 |
| Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Desmoid tumors, Small... |
OMIM:175100 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Myhre Syndrome |
|
Cryptorchidism, Generalized muscle hypertrophy, Cleft palate, Skeletal muscle hypertrophy, Hypert... |
OMIM:139210 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Blau Syndrome |
|
Pericarditis, Splenomegaly, Xerostomia, Large vessel vasculitis, Lymphadenopathy, Hypertension, A... |
ORPHA:90340 |
| Dextrocardia |
|
Meckel diverticulum, Intestinal malrotation, Abnormality of the spleen, Abnormality of abdominal ... |
ORPHA:1666 |
| Hutchinson-Gilford Progeria Syndrome |
|
Aortic regurgitation, Mitral stenosis, Angina pectoris, Myocardial infarction, Transient ischemic... |
ORPHA:740 |
| Mucopolysaccharidosis Type 2 |
|
Chronic diarrhea, Macroglossia, Contractures of the large joints, Hypertension, Cardiomyopathy, F... |
ORPHA:580 |
| Xq21 Microdeletion Syndrome |
|
Hypertension |
ORPHA:1435 |
| Metachromatic Leukodystrophy |
|
Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal duodenum m... |
ORPHA:512 |
| Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
| Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Sudden cardiac death, Myocardial infarction, Heart murmur, Abnormal left ventric... |
ORPHA:391665 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Gastroesophageal reflux, High palate, Hypertension |
OMIM:300896 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Hypothermia, Corneal scarring, Atypical scarring of skin, Unexplained fevers, Recurren... |
ORPHA:642 |
| Systemic Lupus Erythematosus |
|
Raynaud phenomenon, Hypertension |
ORPHA:536 |
| Dystonia-Aphonia Syndrome |
|
Abnormal mitochondrial shape |
ORPHA:412217 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Opisthotonus |
OMIM:608013 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Male infertility, Tachycardia, Streak ovary, Unilateral cryptorchidism, Bi... |
ORPHA:1772 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Achalasia, Flexion contracture, Telangiectasia of the skin |
OMIM:616007 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
| Cockayne Syndrome A |
|
Hip contracture, Cryptorchidism, Irregular menstruation, Hypertension, Hypogonadism, Arrhythmia |
OMIM:216400 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Thyroid lymphangiectasia, Rectal prolapse, Pulmonary lymphangiectas... |
OMIM:235510 |
| Cog8-Cdg |
|
Protein-losing enteropathy |
ORPHA:95428 |
| 22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Hypertensive crisis, Aganglionic megacolon, Intestinal malrotation, ... |
ORPHA:567 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Diarrhea, Hypertension, Vomiting, Dysphagia, Pulmonary arterial hyperten... |
OMIM:606721 |
| Plasminogen Deficiency, Type I |
|
Duodenal ulcer |
OMIM:217090 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Mitochondrial swelling |
OMIM:615595 |
| Scalp-Ear-Nipple Syndrome |
|
Supraventricular tachycardia, Hypertension, Bifid uvula, Congestive heart failure |
OMIM:181270 |
| Cockayne Syndrome |
|
Skeletal muscle atrophy, Cryptorchidism, Retinal hemorrhage, Contractures of the large joints, Co... |
ORPHA:191 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
| Focal Dermal Hypoplasia |
|
Gastroesophageal reflux, Duodenal atresia |
ORPHA:2092 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Fever, Hyperlipidemia, Hypothermia |
ORPHA:293987 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal mitochondrial shape |
ORPHA:485421 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Anteriorly placed anus, Hypertension, Mitral regurgitation, Vomiting, Dysphagia, Left ventricular... |
OMIM:220111 |
| Adams-Oliver Syndrome 1 |
|
Hypertension, Aortic valve stenosis, Pulmonary arterial hypertension, Pulmonic stenosis |
OMIM:100300 |
| Immunodeficiency 77 |
|
Gastroparesis |
OMIM:619223 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased serum leptin, Splenomegaly, Hyperi... |
OMIM:608594 |
| Miller-Dieker Lissencephaly Syndrome |
|
Cleft palate, Duodenal atresia |
OMIM:247200 |
| Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Mitochondrial swelling |
OMIM:606812 |
| Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:207750 |
| Duplication Of Urethra |
|
Rectourethral fistula, Anorectal anomaly, Chordee, Anal fistula, Anal atresia |
ORPHA:237 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Pulmonary arterial hypertension, Anemia |
ORPHA:667 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Macroglossia, High palate, Bifid uvula, Hypertension |
OMIM:266920 |
| Chops Syndrome |
|
Gastroparesis, High, narrow palate, Cryptorchidism, Constipation, Gastroesophageal reflux |
OMIM:616368 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Furrowed tongue, Gastroesophageal reflux, High palate, Annular pancreas, Duodenal atresia |
OMIM:616975 |
| Pierson Syndrome |
|
Hypertension, Retinal hemorrhage |
OMIM:609049 |
| Neurofibromatosis, Type I |
|
Hypertension |
OMIM:162200 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Renal Dysplasia |
|
Hypertension |
ORPHA:93108 |
| Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Iron deficiency anemia, Intest... |
ORPHA:261584 |
| Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology |
ORPHA:2847 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Intestinal malrotation, Asplenia, Abdominal situs inversus, Abdominal situs ambiguus, Duodenal at... |
OMIM:270100 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Increased mitochondrial number |
ORPHA:263297 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Dilated cardiomyopathy, Enlarged kidney, Cardiomegaly |
OMIM:608836 |
| Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:306400 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Decreased serum insulin-like growth factor 1, Autoimmune thrombocytopenia, Hyperspl... |
ORPHA:77293 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Bilateral cryptorchidism, Contractures of the large joints, Premature ovarian insufficiency, Chordee |
ORPHA:96179 |
| Gm1 Gangliosidosis Type 1 |
|
Cardiomyopathy, Exaggerated startle response, Dystonia, Hepatosplenomegaly |
ORPHA:79255 |
| Williams-Beuren Syndrome |
|
Colonic diverticula, Portal hypertension, Celiac disease, Rectal prolapse, Flexion contracture, H... |
OMIM:194050 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Cranioectodermal Dysplasia 2 |
|
Left ventricular hypertrophy, Hypertension, High palate, Cleft palate |
OMIM:613610 |
| Tay-Sachs Disease |
|
Exaggerated startle response, Tremor, Hepatosplenomegaly, Dystonia, Laryngeal dystonia |
ORPHA:845 |
| Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Abnormal mitochondrial shape |
ORPHA:543470 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Shoulder flexion contracture, Cryptorchidism, Flexion contracture, Elbow flexion... |
OMIM:210710 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Gastroesophageal reflux, Duodenal atresia |
ORPHA:464311 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
| Neurofibromatosis Type 1 |
|
Neoplasm of the gastrointestinal tract, Hypertension, Cryptorchidism |
ORPHA:636 |
| Cockayne Syndrome B |
|
Hypertension, Arrhythmia, Cryptorchidism |
OMIM:133540 |
| Holoprosencephaly 13, X-Linked |
|
Submucous cleft hard palate, Cleft palate, Gastroesophageal reflux, Median cleft palate, Duodenal... |
OMIM:301043 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:308552 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:614921 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
| Fucosidosis |
|
Splenomegaly, Hepatomegaly, Dystonia, Cardiomegaly |
OMIM:230000 |
| Whim Syndrome |
|
Abnormal small intestine morphology, Lymphadenitis, Abnormal neutrophil morphology, Neutropenia, ... |
ORPHA:51636 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Cryptorchidism, Elbow flexion contracture, Cleft palate, Knee flexion contracture, Anteriorly pla... |
OMIM:151050 |
| Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Cryptorchidism, Lower limb hypertonia, Chordee, Constipation |
OMIM:616728 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response |
OMIM:617864 |
| Bartter Syndrome Type 4 |
|
Hypertension |
ORPHA:89938 |
| Keutel Syndrome |
|
Hypertension, Pulmonic stenosis |
OMIM:245150 |
| Sarcoidosis |
|
Fever, Scarring, Hypothermia |
ORPHA:797 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Uterine prolapse, Cryptorchidism, Hypothermia |
ORPHA:438213 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Submucous cleft hard palate, Flexion contracture, Generalized limb muscle atrophy, Chordee |
OMIM:618891 |
| Menke-Hennekam Syndrome 2 |
|
Duodenal ulcer |
OMIM:618333 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Duodenal atresia |
ORPHA:468631 |
| 17Q11 Microdeletion Syndrome |
|
Telangiectasia of the skin, Rhabdomyosarcoma, Gastrointestinal stroma tumor, Renovascular hyperte... |
ORPHA:97685 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Gastroparesis, High, narrow pala... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Gastroparesis, High, narrow pala... |
ORPHA:352665 |
| Scedosporiosis |
|
Abnormal jejunum morphology |
ORPHA:449280 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
| 46,Xy Sex Reversal 6 |
|
Chordee |
OMIM:613762 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Cryptorchidism, Primary amenorrhea, Anteriorly placed anus, Hypertension, Chordee, Camptodactyly,... |
OMIM:201750 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Jejunal atresia, Ileal atresia, Cryptorchidism, Chordee |
OMIM:618820 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:228308 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
| Zygomycosis |
|
Gastrointestinal hemorrhage, Gastritis, Hematemesis, Mediastinal lymphadenopathy, Peritonitis, He... |
ORPHA:73263 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly |
OMIM:620306 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Aganglionic megacolon, Cryptorchidism, Cleft palate, Hypertension, Corneal neovascularization |
OMIM:308205 |
| Tuberous Sclerosis Complex |
|
Hypertension, Internal hemorrhage |
ORPHA:805 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Achalasia, Limb-girdle muscular dystrophy, Esophagitis |
OMIM:615356 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypogonadotropic hypogonadism, Gastroparesis, Cryptorchidism, Primary amenorrhea, Infertility, De... |
ORPHA:98754 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Tremor, L... |
OMIM:300967 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypogonadotropic hypogonadism, Gastroparesis, Cryptorchidism, Primary amenorrhea, Infertility, De... |
ORPHA:98793 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypogonadotropic hypogonadism, Gastroparesis, Cryptorchidism, Primary amenorrhea, Infertility, De... |
ORPHA:177904 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypogonadotropic hypogonadism, Gastroparesis, Cryptorchidism, Primary amenorrhea, Infertility, De... |
ORPHA:177901 |
| Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| Iniencephaly |
|
Anal atresia, Duodenal atresia |
ORPHA:63259 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Dystonia |
ORPHA:521426 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
| Vascular Ehlers-Danlos Syndrome |
|
Telangiectasia of the skin, Transient ischemic attack, High, narrow palate, Cryptorchidism, Aplas... |
ORPHA:286 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Epistaxis, Aplasia of the right hemidiaphragm, Cryptorchidism, Episodic vomiting, Chordee, Ankylo... |
OMIM:619841 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:232300 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response |
OMIM:615574 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve... |
ORPHA:581 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Gastroparesis, Bowel incontinence |
OMIM:618877 |
| Osteoglophonic Dysplasia |
|
Cryptorchidism, Chordee, High palate, Camptodactyly of finger |
OMIM:166250 |
| Hand-Foot-Genital Syndrome |
|
Small thenar eminence, Chordee |
OMIM:140000 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Enlarged kidney |
OMIM:252500 |
| Spondyloocular Syndrome |
|
Duodenal ulcer |
OMIM:605822 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hematochezia, Ascites, Protein-losing enteropathy |
OMIM:618183 |
| Generalized Arterial Calcification Of Infancy |
|
Transient ischemic attack, Retinal hemorrhage, Myocardial calcification, Hypertension, Weak pulse... |
ORPHA:51608 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
| Diets-Jongmans Syndrome |
|
Duodenal atresia |
OMIM:618846 |
| Hypoplasminogenemia |
|
Duodenal ulcer |
ORPHA:722 |
| Ogden Syndrome |
|
Torticollis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomeg... |
OMIM:300855 |
| Charge Syndrome |
|
Anal stenosis, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Dysphagia, Lymphopeni... |
OMIM:214800 |
| Cardiospondylocarpofacial Syndrome |
|
Gastroparesis, Congenital diaphragmatic hernia, Mitral regurgitation, Gastroesophageal reflux, De... |
OMIM:157800 |
| Isolated Congenital Alacrima |
|
Achalasia |
ORPHA:91416 |
| Tarp Syndrome |
|
Extramedullary hematopoiesis, Cleft palate, Glossoptosis, Abnormal duodenum morphology, Tongue no... |
ORPHA:2886 |
| Townes-Brocks Syndrome 1 |
|
Anal stenosis, Rectoperineal fistula, Tracheoesophageal fistula, Gastroesophageal reflux, Rectova... |
OMIM:107480 |
| Aicardi-Goutières Syndrome |
|
Cardiomegaly, Tremor, Hepatosplenomegaly, Dystonia, Hypertrophic cardiomyopathy |
ORPHA:51 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Lym... |
OMIM:619991 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Coffin-Siris Syndrome 1 |
|
Duodenal ulcer, Intestinal malrotation, Cleft palate, Gastric ulcer, High palate, Intussusception |
OMIM:135900 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:365 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:137675 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
| Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Cardiomegaly |
ORPHA:97297 |
| Alström Syndrome |
|
Hypergonadotropic hypogonadism, Portal hypertension, Testicular fibrosis, Congestive heart failur... |
ORPHA:64 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Cryptorchidism, Lower limb hypertonia, Chordee |
ORPHA:477993 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney |
OMIM:130650 |
| Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Abnormal thymus morphology, Cleft palate, Abnormality of the... |
OMIM:219000 |
| 46,Xy Ovotesticular Difference Of Sex Development |
|
Chordee |
ORPHA:325345 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Transient ischemic attack, Gastroparesis, Gastrointestinal dysmotility, Chronic diarrhea, Cleft p... |
ORPHA:500150 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Intestinal malrotation, Hiatus hernia, Cleft palate, High palate, Abnormal duodenum morphology |
OMIM:601776 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Cryptorchidism, Hydrocele testis, Chordee, High palate, Dysphagia |
OMIM:619522 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Visceromegaly, Enlarged ki... |
ORPHA:116 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:256040 |
| Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |
| Aortic Aneurysm, Familial Thoracic 8 |
|
|
OMIM:615436 |
