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 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Cyanosis, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy |
OMIM:312500 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... |
OMIM:615285 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:616860 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc... |
OMIM:224100 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase... |
OMIM:224120 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Glutamate-Cysteine Ligase Deficiency |
|
Hepatosplenomegaly, Hemolytic anemia, Jaundice, Reticulocytosis |
ORPHA:33574 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... |
OMIM:300908 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Increased circulating lactate dehydrogenase... |
ORPHA:3202 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Miscarriage, Abnormal hemoglobin, Anemia of inadequate productio... |
ORPHA:2133 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice, Cutan... |
OMIM:618892 |
Diamond-Blackfan Anemia 13 |
|
Normocytic anemia |
OMIM:615909 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Abnormal lactate dehydrogenase level, Macrothrombo... |
ORPHA:67044 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Petechiae, Reduced platelet ... |
OMIM:314050 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Miscarriage, Anisocytosis, Jaundice, Sphero... |
ORPHA:71275 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... |
OMIM:619902 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri... |
ORPHA:822 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Nephrotic range proteinuria, Autoimmune thrombocytopenia, Stage... |
OMIM:613496 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Jaundice, Schistocytos... |
OMIM:274150 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... |
OMIM:615234 |
Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Reticulocytopenia, A... |
ORPHA:300298 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Increased circulating lactate dehydrogenas... |
ORPHA:232 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Increased circulating lactate dehydrogenase concentrat... |
ORPHA:86841 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El... |
OMIM:615559 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... |
OMIM:603552 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Reduced glutathione synthetase level |
ORPHA:32 |
Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia |
OMIM:153550 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Death in infancy, Autoimmune thrombocytopenia, Sple... |
OMIM:617514 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... |
OMIM:235400 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Spastic Paraplegia And Evans Syndrome |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia |
OMIM:601608 |
Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly |
OMIM:615010 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... |
OMIM:615008 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Petechiae, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Glutathione Peroxidase Deficiency |
|
Heinz bodies, Compensated hemolytic anemia |
OMIM:614164 |
Elliptocytosis 3 |
|
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... |
OMIM:617948 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:620010 |
Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Megaloblastic Anemia, Folate-Responsive |
|
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... |
OMIM:601775 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Hemolytic anemia, Glyoxalase deficiency, Reduced glutathione synthetase level |
OMIM:231900 |
Malaria |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hyperbilirubinemia, Acut... |
ORPHA:673 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Increased circulating lactate dehydrogenase concentration, Ele... |
OMIM:232800 |
Mcleod Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Sple... |
OMIM:300842 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge... |
ORPHA:824 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Death in infancy, Ventricular septal defect, Elevated circulating aspartate aminotr... |
OMIM:614876 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadeno... |
ORPHA:858 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Galactosemia Iii |
|
Splenomegaly, Hepatomegaly, Jaundice, Decreased beta-galactosidase activity |
OMIM:230350 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Renal insufficiency, Proteinuria, Abnormal lactate dehydrogenase level, Hematuri... |
ORPHA:54057 |
Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... |
ORPHA:231222 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:79238 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... |
OMIM:603903 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:619868 |
Hemolytic Anemia, Congenital, X-Linked |
|
Hemolytic anemia, Jaundice |
OMIM:301015 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... |
OMIM:618278 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Anuria, Acute colitis, Leukocytosis, Schistocytosis, Elevated circ... |
ORPHA:90038 |
Orotic Aciduria |
|
Orotic acid crystalluria, Ventricular septal defect, Impaired T cell function, Anisocytosis, Fola... |
OMIM:258900 |
Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor... |
OMIM:615382 |
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration |
|
Acanthocytosis |
OMIM:607236 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat... |
ORPHA:158057 |
Developmental And Epileptic Encephalopathy 50 |
|
Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Renal tubular acidosis, Deat... |
OMIM:616457 |
Nephronophthisis |
|
Anemia |
ORPHA:655 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Retrograde ejaculation,... |
ORPHA:49041 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Hepatic failure, Thrombocytop... |
ORPHA:108 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Nephrocalcinosis, Decreased m... |
OMIM:611590 |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:230450 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alkalin... |
OMIM:214900 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... |
OMIM:247800 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Elevated hepatic tr... |
ORPHA:79303 |
Rh-Null, Regulator Type |
|
Hemolytic anemia, Jaundice, Stomatocytosis |
OMIM:268150 |
Lathosterolosis |
|
Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos... |
OMIM:607330 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi... |
OMIM:301045 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia, Elevated leukocyte alkaline phosphatase |
OMIM:162830 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Red-brown urine, Tubulointersti... |
ORPHA:228308 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephriti... |
OMIM:619644 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Angular cheilitis, Megaloblastic a... |
ORPHA:35858 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corp... |
ORPHA:98870 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Protei... |
OMIM:614034 |
Galactosemia I |
|
Hemolytic anemia, Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, ... |
OMIM:230400 |
Trimethylaminuria |
|
Trimethylaminuria, Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Atypical Hemolytic Uremic Syndrome |
|
Proteinuria, Abnormal lactate dehydrogenase level, Hematuria, Microangiopathic hemolytic anemia, ... |
ORPHA:2134 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Red-brown urine, Tubulointerstitial nephritis... |
ORPHA:157 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
Progressive Familial Intrahepatic Cholestasis |
|
Splenomegaly, Hepatomegaly, Jaundice, Cholestasis |
ORPHA:172 |
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 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Decreased circulating total IgM, Lymphocytosis |
OMIM:606445 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Incr... |
ORPHA:100024 |
Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Lipodystrophy, Chilblains, I... |
OMIM:619858 |
Abetalipoproteinemia |
|
Acanthocytosis |
OMIM:200100 |
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia |
ORPHA:2802 |
Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Anisocytosis, Death in childhood |
OMIM:604273 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated alkaline phosphatase of bone origin, Spleno... |
OMIM:616828 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Increased circulating lactate dehydrogenase concent... |
OMIM:210250 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly |
ORPHA:56425 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ... |
OMIM:245900 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Reduced glutathione synthetase level, Neutropenia |
OMIM:266130 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Porphyria, Acute Hepatic |
|
Hemolytic anemia, Elevated urinary delta-aminolevulinic acid |
OMIM:612740 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... |
OMIM:602347 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating cr... |
OMIM:617872 |
Coproporphyria, Hereditary |
|
Splenomegaly, Hepatomegaly, Jaundice, Cutaneous photosensitivity |
OMIM:121300 |
Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Rhabdomyo... |
OMIM:300653 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... |
OMIM:612714 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... |
OMIM:617021 |
3-Methylglutaconic Aciduria, Type Viia |
|
3-Methylglutaconic aciduria, Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Hypobetalipoproteinemia, Familial, 1 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:615558 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thr... |
ORPHA:398124 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Renal insufficiency, Decreased hemoglobin concentration, Reticulocytosis, Rhabd... |
ORPHA:713 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... |
OMIM:617006 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Hypomag... |
OMIM:613845 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ... |
OMIM:269920 |
Lathosterolosis |
|
Hepatomegaly, Hypoplasia of penis, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platel... |
ORPHA:46059 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Petechiae, Elevated circulating creatine kinase concentration, Elevated circulating... |
ORPHA:231111 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Reticulocytosis |
OMIM:130600 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... |
ORPHA:231226 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Petechiae, Splenomegaly, L... |
OMIM:612840 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Hyperbilirubinemia |
OMIM:618660 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Death in childhood, ... |
OMIM:601847 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure |
ORPHA:75234 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver... |
OMIM:615415 |
Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Acanthocytosis |
OMIM:604777 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... |
ORPHA:247598 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Renal insufficiency, Acute hepatic failure, Elevated hepatic transami... |
ORPHA:1667 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Colitis, Hypoalbuminemia, Neutropenia, Ecchymosis, Infectious encephalitis, Hepatomegaly, Maculop... |
ORPHA:540 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Lupus nephritis, Leukopenia, Arthritis, Cutaneous photosensitivit... |
OMIM:152700 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly, 3-Methylglutaconic aciduria |
OMIM:619813 |
Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Erythema, Hepatic failure, Cholelithiasis |
OMIM:177000 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:619874 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... |
OMIM:300751 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Hypoplasia of penis, Splenomegaly, Spherocytosis, Mitral valve prolapse, Atrial... |
ORPHA:251066 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Eleva... |
OMIM:611881 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Abnormality of the testis size, Renal cyst, Elevated gamma-glutam... |
ORPHA:400 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Ascites, Anemia |
ORPHA:100025 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Eczema, Thrombocytopenia, Increase... |
OMIM:304790 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly, Death in infancy |
ORPHA:139406 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... |
OMIM:607685 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Conjugated hyperbilirubinemia, Nephrocalcinosis, Aminoaciduria, Elevated ga... |
OMIM:208085 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Reduced delayed ... |
OMIM:603909 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Leukopenia... |
ORPHA:470 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Splenomegal... |
ORPHA:905 |
Relapsing Fever |
|
Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio... |
ORPHA:91547 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Hepatic steatosis, Acanth... |
ORPHA:71 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice, Patent ductus arteriosus, Anemia... |
ORPHA:290 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Cirr... |
OMIM:613313 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Hypertrophic cardiomyopathy |
ORPHA:79281 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, El... |
OMIM:235555 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Subcutaneous hemorrhage, Thrombocytopenia |
ORPHA:1980 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Malformation of the hepatic ducta... |
OMIM:208540 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hemolytic anemia, Decreased muscle mass, Elevated creatine kinase after exercise, Exercise-induce... |
ORPHA:57 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
Anemia, Autoimmune Hemolytic |
|
Autoimmune hemolytic anemia |
OMIM:205700 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
Hemochromatosis, Neonatal |
|
Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H... |
OMIM:231100 |
Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hemolytic anemia, Hepatomegaly,... |
OMIM:619487 |
Cholangiocarcinoma |
|
Biliary tract neoplasm, Jaundice, Acholic stools |
ORPHA:70567 |
Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
Edinburgh Malformation Syndrome |
|
Death in infancy, Jaundice |
OMIM:129850 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Premature graying of hair, H... |
ORPHA:79477 |
Cog7-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:79333 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, In... |
OMIM:613839 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Leukopenia, Hypoalbuminemia, Infectious encephalitis, Hyponatremia, Hepatomegaly, Hepatosplenomeg... |
OMIM:603553 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc... |
ORPHA:882 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... |
OMIM:613812 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Muscle fiber atrophy, Renal insufficiency, Elevated circulating creatine kinase concentration, El... |
ORPHA:228302 |
Congenital Atransferrinemia |
|
Abnormality of the pancreas, Anemia |
ORPHA:1195 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... |
OMIM:616217 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Proteinuria, Diabetes mellitus, Hematuria, Nephrotic sy... |
OMIM:608709 |
Protoporphyria, Erythropoietic, 2 |
|
Iron deficiency anemia |
OMIM:618015 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Abnormal blood ion concentration, Renal cyst, Gastrointestinal inflammation, ... |
ORPHA:79404 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm... |
ORPHA:85445 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac... |
OMIM:277900 |
Dubin-Johnson Syndrome |
|
Jaundice, Biliary tract abnormality |
OMIM:237500 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
OMIM:251880 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia |
ORPHA:99931 |
Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Petechiae, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Ecchym... |
OMIM:153670 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Death in infancy, Splenomegaly, Jaundice,... |
OMIM:615512 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Elevated gamma-gluta... |
OMIM:614480 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612925 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... |
ORPHA:2137 |
Galactosemia Iv |
|
Prolonged neonatal jaundice |
OMIM:618881 |
Choreoacanthocytosis |
|
Acanthocytosis |
OMIM:200150 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... |
ORPHA:3261 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Facial palsy, Thrombocytopenia, Leukocy... |
OMIM:259720 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... |
ORPHA:848 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Iron deficiency anemia,... |
ORPHA:37042 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... |
OMIM:620135 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites |
ORPHA:890 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrah... |
OMIM:607765 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612926 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia |
OMIM:618313 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Decreased acid sphingomyeli... |
OMIM:607616 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia |
OMIM:616959 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Renal interstitial edem... |
ORPHA:91500 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis |
ORPHA:60 |
Acute Erythroid Leukemia |
|
Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia |
ORPHA:318 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising susceptibility, HbH hemogl... |
ORPHA:231401 |
Rotor Syndrome |
|
Abnormal circulating enzyme concentration or activity, Bilirubinuria, Conjugated hyperbilirubinem... |
ORPHA:3111 |
Neonatal Alloimmune Neutropenia |
|
Jaundice, Miscarriage, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Abnormal dental enamel morp... |
ORPHA:251004 |
Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79239 |
Pearson Syndrome |
|
Renal cyst, Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytos... |
ORPHA:699 |
Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis |
ORPHA:33402 |
Galactosemia Ii |
|
Prolonged neonatal jaundice |
OMIM:230200 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612924 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic anemia, Reti... |
ORPHA:447 |
Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Elevated gamma-glutamyltr... |
OMIM:608885 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... |
ORPHA:84081 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an... |
ORPHA:1959 |
Short Stature With Microcephaly And Distinctive Facies |
|
Death in infancy, Anisopoikilocytosis, Anemia |
OMIM:615789 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis... |
ORPHA:75563 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... |
OMIM:619232 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel... |
OMIM:257200 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Mandibular osteomyelitis, Hepatospleno... |
OMIM:259710 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure |
OMIM:618549 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Prolidase Deficiency |
|
Hepatomegaly, Petechiae, Elevated circulating aspartate aminotransferase concentration, Eczema, H... |
OMIM:170100 |
Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Anemia |
ORPHA:1802 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Eczema, Perianal abscess, Lymphadenitis, Splenomegaly, Recu... |
OMIM:618935 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hepatomegaly, Hemolytic ... |
OMIM:308230 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:610539 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Increased circulating ferritin concentration, Congenital hepatic fibrosis, Abnormal... |
ORPHA:446 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating lactate dehydrogenase concentration, Hepatomegaly, Elevated circulating ala... |
OMIM:605911 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... |
ORPHA:139507 |
Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Leukop... |
ORPHA:1304 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Dec... |
ORPHA:381 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Focal segmental glomerulosclerosis, Thrombocytopenia, Splenomegaly, Le... |
OMIM:617303 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Combined Saposin Deficiency |
|
Splenomegaly, Hepatomegaly, Death in infancy |
OMIM:611721 |
Jaundice, Familial Obstructive, Of Infancy |
|
Jaundice |
OMIM:308600 |
Crigler-Najjar Syndrome, Type Ii |
|
Jaundice |
OMIM:606785 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Jaundice |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Jaundice |
OMIM:237900 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Decreased circulating antibody level, ... |
OMIM:613101 |
Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Hypertrophic cardiomyopathy, Ascites, Anemia |
ORPHA:295 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Reticulocytosis, Hepatome... |
ORPHA:14 |
Congenital Erythropoietic Porphyria |
|
Anisocytosis, Abnormal circulating porphyrin concentration, Scarring alopecia of scalp, Red-brown... |
ORPHA:79277 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:615085 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir... |
ORPHA:36234 |
Immunodeficiency 104 |
|
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... |
OMIM:613280 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Compl... |
OMIM:557000 |
Hyperbilirubinemia, Rotor Type |
|
Jaundice |
OMIM:237450 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Panhypogammaglobulinemia, Splenomegaly |
OMIM:269840 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Anemia, Vasculitis in the skin, Petechiae, Purpura |
OMIM:620296 |
Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Portal hypertension, Nodular regenerative... |
OMIM:619463 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Increased circulating ferritin conc... |
OMIM:604250 |
Crigler-Najjar Syndrome Type 1 |
|
Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice |
ORPHA:79234 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Splenome... |
OMIM:276700 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C... |
OMIM:606367 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia |
OMIM:243320 |
Schimke Immuno-Osseous Dysplasia |
|
Lymphopenia, Proteinuria, Impaired T cell function, Minimal change glomerulonephritis, Thrombocyt... |
ORPHA:1830 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Anemia |
ORPHA:28 |
Coach Syndrome 3 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Portal fibrosis, Renal interstitial inflamma... |
OMIM:619113 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Hydroureter, Diabetes mellitus, Megaloblastic anemia, Neutropenia, Hydronep... |
OMIM:598500 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia |
ORPHA:163596 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase |
OMIM:617068 |
Lambert Syndrome |
|
Jaundice, Intrahepatic biliary atresia |
OMIM:245550 |
Crigler-Najjar Syndrome, Type I |
|
Jaundice |
OMIM:218800 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Hyperlysinemia, Type I |
|
Hyperlysinuria, Anemia |
OMIM:238700 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy |
OMIM:105200 |
Gilbert Syndrome |
|
Elevated hepatic transaminase, Jaundice, Hepatic failure |
OMIM:143500 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Elevated gamma-gluta... |
OMIM:278000 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Proteinuria, Scarring, Foot joi... |
ORPHA:90321 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype... |
ORPHA:79124 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Prolonged neonatal jaundice |
OMIM:262400 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Hepatomegaly, Pericarditis, Myositis, Skin rash, Gastritis, Prolonged bleeding ... |
ORPHA:809 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Hydrops Fetalis, Nonimmune |
|
Anemia |
OMIM:236750 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Pericardial effusion, Abnormality of the lymphatic system, Hepato... |
ORPHA:464329 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Lipodystrophy, Mesangial hypercellularity,... |
ORPHA:329918 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia |
ORPHA:169090 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Death in infancy, Cardiomegaly, Hepatocellular necrosis, Periportal fibrosis, Hyper... |
OMIM:201475 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Increased... |
OMIM:608836 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... |
OMIM:602088 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Death in infancy, Proteinuria,... |
OMIM:613404 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Pericardial effusion, Discoid ... |
ORPHA:93552 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret... |
ORPHA:1046 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly, Aminoaciduria |
ORPHA:417 |
Graft Versus Host Disease |
|
Skeletal muscle atrophy, Fasciitis, Myositis, Gastrointestinal inflammation, Acute hepatitis, Dup... |
ORPHA:39812 |
Thymoma |
|
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... |
ORPHA:99867 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia |
ORPHA:90033 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Elevated circulating creatinin... |
ORPHA:230 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Shigellosis |
|
Abnormal blood ion concentration, Uveitis, Conjunctivitis, Acute colitis, Hyponatremia, Hemolytic... |
ORPHA:810 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline phosphatase conce... |
OMIM:605479 |
Pseudo-Torch Syndrome 3 |
|
Death in infancy, Proteinuria, Cardiomegaly, Increased circulating ferritin concentration, Leukoc... |
OMIM:618886 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia, Jaundice, Incr... |
OMIM:105600 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia/aplasia, Anemia, Ascites, Thrombocytopenia |
ORPHA:2123 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abnormal erythrocyte morphology, Neurogenic bladder, Acanthocytosis |
ORPHA:96180 |
Legionnaires Disease |
|
Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Splenomegaly, Jaundice, Myocarditis... |
ORPHA:549 |
Gray Platelet Syndrome |
|
Splenomegaly, Bruising susceptibility, Thrombocytopenia |
ORPHA:721 |
Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Deat... |
OMIM:610333 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Nonketotic hypoglycem... |
ORPHA:20 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hepatomegaly, Anemia |
OMIM:618107 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Castleman Disease |
|
Renal insufficiency, Generalized lymphadenopathy, Abdominal mass, Elevated circulating C-reactive... |
ORPHA:160 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
Familial Atrial Myxoma |
|
Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi... |
ORPHA:615 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Darier's sign, Urticaria, Increased proportion of CD... |
ORPHA:98848 |
Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Petechiae, Splenomegaly, Jaundi... |
OMIM:251290 |
Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect |
OMIM:612527 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Multiple renal cysts, Increa... |
ORPHA:2924 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal... |
OMIM:301068 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Hypocalcemia, Ly... |
OMIM:619991 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Uveitis, Leukopenia, Hypoalbuminemia, Abnorma... |
ORPHA:99826 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Hepatomegaly, Acute hepatic failure, Dicarboxylic aciduria, Eleva... |
OMIM:613070 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st... |
OMIM:615438 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Thrombocytopenia, Splenomegaly, Hyperammonemia, Cardiomyopathy... |
ORPHA:79312 |
Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia |
OMIM:187800 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Decreased 3-hydroxyacyl-CoA ... |
OMIM:231530 |
Crigler-Najjar Syndrome Type 2 |
|
Prolonged neonatal jaundice |
ORPHA:79235 |
Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... |
OMIM:300972 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Premature graying of hair, Leukopenia, Incre... |
OMIM:127550 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Abnormal urinary color, Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90037 |
Transaldolase Deficiency |
|
Abnormality of the kidney, Hepatosplenomegaly, Anemia, Biventricular hypertrophy, Cirrhosis, Atri... |
ORPHA:101028 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Urticaria, Anemia |
ORPHA:37748 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Acanthocytosis, Intrahepatic cholestasis, Abnormal abdome... |
ORPHA:97280 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Petechiae, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, H... |
ORPHA:2330 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
Hypouricemia, Renal, 1 |
|
Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub... |
OMIM:220150 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Portal hypertension, Hepatic cysts, Eosinophilia, Pancreatic cysts, A... |
ORPHA:284 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, Neutropen... |
ORPHA:443811 |
Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Necrotizing enterocolitis, Increased urine succinate level, ... |
OMIM:606812 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Nephrotic s... |
OMIM:618999 |
Formiminoglutamic Aciduria |
|
Atrial septal defect, Abnormal concentration of acylcarnitine in the urine, Anemia, Megaloblastic... |
ORPHA:51208 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Elevated gamma-glutamyltransferase level, Hepatic steatosis, Hepatomegaly, Mem... |
OMIM:619525 |
Sepsis In Premature Infants |
|
Hepatomegaly, Cyanosis, Petechiae, Elevated circulating C-reactive protein concentration, Thrombo... |
ORPHA:90051 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Medullary nephrocalcinosis, Poikilocytosis, Acanthocytosis |
OMIM:618947 |
Lambert Syndrome |
|
Ventricular septal defect, Jaundice, Intrahepatic biliary atresia, Cholestasis |
ORPHA:1296 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
Immunodeficiency 27A |
|
Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosp... |
OMIM:209950 |
Hypercholanemia, Familial, 2 |
|
Prolonged neonatal jaundice |
OMIM:619256 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Splenomegaly, Lymp... |
OMIM:618495 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... |
OMIM:603278 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent ton... |
OMIM:613779 |
Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c... |
OMIM:614817 |
Hydroxykynureninuria |
|
Jaundice |
OMIM:236800 |
Immunodeficiency 23 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Eosinophilia, Eczema, Allergic rhinit... |
OMIM:615816 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... |
ORPHA:65682 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice |
OMIM:243300 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Cardiomyopathy |
OMIM:609016 |
Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Death in infancy, Fetal ascites, Bone-marrow foam cells, Low cholesterol esterifica... |
OMIM:607625 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... |
ORPHA:30391 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Generalized lymphadenopathy, Hepatic steatosis, Hemolytic anemia, Hepatomegal... |
OMIM:615846 |
Abcd Syndrome |
|
Polycythemia |
OMIM:600501 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614727 |
Trichohepatoenteric Syndrome 1 |
|
Hypoalbuminemia, Hepatic fibrosis, Hepatomegaly, Hypospadias, Increased mean platelet volume, Abn... |
OMIM:222470 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,... |
ORPHA:730 |
Meckel Syndrome, Type 8 |
|
Pericardial effusion, Hyperechogenic kidneys, Polycystic kidney dysplasia, Enlarged kidney |
OMIM:613885 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Corneal scarring, Atypical sca... |
OMIM:263700 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Conjugated hyperbilirubinemia, Jaundice, Hepatosplenomegaly, Stomat... |
ORPHA:168577 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerul... |
OMIM:232220 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... |
OMIM:619201 |
Congenital Pancreatic Cyst |
|
Jaundice, Pancreatitis |
ORPHA:313906 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial... |
OMIM:613011 |
Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Hypo... |
ORPHA:167 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Abnormal circulating enzyme concentration or activity, Elevated circu... |
ORPHA:2785 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Acne, Recurrent skin infection... |
OMIM:300635 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Hypoglycemia, Ne... |
OMIM:619418 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Death in infancy, Splenomegaly, Abnormality of the spleen, Stillbirth... |
ORPHA:85212 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Death in childhood, Lymphopenia |
OMIM:619164 |
Johanson-Blizzard Syndrome |
|
Death in infancy, Hypoplasia of penis, Diabetes mellitus, Hypospadias, Dextrocardia, Abnormality ... |
ORPHA:2315 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Foo... |
OMIM:214500 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Inguinal hernia, Proteinuria, Glomerulonephritis, Elevated circulating creatinine c... |
OMIM:614376 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Membranoproliferative glomerulonephritis, Lipodystrophy, Proteinuria, Hematuria, Nephrotic syndro... |
OMIM:613913 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thromb... |
ORPHA:507 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca... |
OMIM:235200 |
Cholestasis, Intrahepatic, Of Pregnancy, 1 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ... |
OMIM:147480 |
Fanconi-Bickel Syndrome |
|
Elevated gamma-glutamyltransferase level, Fasting hypoglycemia, Hepatomegaly, Ketonuria, Hypouric... |
OMIM:227810 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Diabetes mellitus, Megaloblastic anemia, C... |
OMIM:222300 |
Osteopetrosis, Autosomal Recessive 3 |
|
Distal renal tubular acidosis, Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly |
OMIM:259730 |
Myasthenia Gravis |
|
Hemolytic anemia, Myositis, Pure red cell aplasia, Hepatitis, Abnormal thymus morphology, Rheumat... |
ORPHA:589 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Elevated circulating C-reactive protein concentration, Elevated gamma-glutamy... |
OMIM:619573 |
Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Mesangial hypercellularity, Paraproteinemia, Nephritis, ... |
ORPHA:91139 |
Nephrotic Syndrome, Type 10 |
|
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... |
OMIM:615861 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Elevated hepatic transaminase, Anterior uveitis, Inflammatory abnormal... |
ORPHA:95455 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine... |
ORPHA:906 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Ascites, Anemia |
ORPHA:75233 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Skin rash, Elevated circulating C-reactive protein concentration, Reduced natural k... |
OMIM:616050 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Renal insufficiency, Thrombocytopenia, Hyperammonemia, Renal tubular dysfunction, N... |
ORPHA:289916 |
Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... |
OMIM:617609 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... |
OMIM:226990 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Cyanosis, Gastritis, Facial palsy, Hyperkalemia, Renal tubular epithelial ne... |
ORPHA:31826 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... |
ORPHA:85450 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Leukopeni... |
ORPHA:27 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, H... |
OMIM:612541 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Sandhoff Disease |
|
Splenomegaly, Hepatomegaly |
ORPHA:796 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Death in infancy, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Car... |
OMIM:619046 |
Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia |
OMIM:612528 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Torticollis, Metrorrhagia, Elevated carcinoma antigen 125 level, Elevat... |
ORPHA:370348 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Polycystic liver disease, Renal cyst, Elevated circulating alkaline phosphatase concentration, As... |
OMIM:174050 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, Ecchymosis, Decreased g... |
ORPHA:340 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hypoalbuminemi... |
ORPHA:171 |
Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Polyuria, Anemia, Nephronophthisis |
OMIM:606996 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... |
ORPHA:529799 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Microcytic anemia, Elevated circulating alanine aminotransferase concentration, Dil... |
OMIM:618805 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Patent ductus arteriosus, Elliptocytosis, Abnor... |
ORPHA:86818 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality |
ORPHA:234 |
Atransferrinemia |
|
Abnormality of the liver, Hypochromic anemia |
OMIM:209300 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl... |
ORPHA:449395 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Hypok... |
OMIM:619377 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria, Limb muscle weakness, Hemolytic anemia, Skeletal muscle atrophy |
OMIM:612300 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:86893 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Hepatomegaly, Jaundice, Death in infancy |
OMIM:614872 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Neonatal death, Hepatic periportal necrosis, Hepatic steatosis |
OMIM:231680 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent... |
OMIM:602390 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splenome... |
ORPHA:1572 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Ventricular septal defect, Thrombocytopenia, Patent ductus arter... |
ORPHA:163979 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Low choleste... |
OMIM:257220 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells, Decreased ci... |
OMIM:620282 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Splenomegaly, Hepatomegaly, Death in infancy, Cardiomyopathy |
OMIM:608540 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Hepatomegaly, Decreased liver function |
OMIM:614870 |
Cholestasis, Intrahepatic, Of Pregnancy 3 |
|
Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice |
OMIM:614972 |
Muckle-Wells Syndrome |
|
Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Splenomegaly, Uveitis, Urticaria,... |
ORPHA:575 |
Systemic Primary Carnitine Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
ORPHA:158 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, Hyperam... |
OMIM:246450 |
Hellp Syndrome |
|
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... |
ORPHA:244242 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Flexion contracture, Gastrointestinal inflammation, Iron deficiency anemia, U... |
ORPHA:79408 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Minimal change glomeruloneph... |
OMIM:616730 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... |
OMIM:614887 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Dysmenorrhea, Hepato... |
ORPHA:79240 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Abnormal heart morpholog... |
OMIM:214110 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis |
OMIM:616719 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Death in infancy, Cardiomegaly, Death in childhood, Neonatal death, Hypertrophic cardiomyopathy |
OMIM:614096 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Neurogenic bladder, Death in infancy, Skeletal muscle atrophy, Elevated circulating... |
OMIM:608779 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Dysmenorrhea, Increa... |
ORPHA:264580 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated hepatic transaminase, Hepatomegaly, Duplicated collecting system, Hypospadias, Elevated ... |
OMIM:301056 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Throm... |
ORPHA:158029 |
Lipoyltransferase 1 Deficiency |
|
Elevated hepatic transaminase, Death in infancy, Hyperglutaminemia, Lacticaciduria, Hyperprolinem... |
OMIM:616299 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Death in infancy, Thrombocytopenia, Patent ductus arteriosus, Cryptorchidism, Eleva... |
OMIM:608104 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,... |
ORPHA:83471 |
Amme Complex |
|
Inguinal hernia, Diastasis recti, Hematuria, Elliptocytosis, Umbilical hernia |
OMIM:300194 |
Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... |
OMIM:256550 |
Catastrophic Antiphospholipid Syndrome |
|
Abnormal heart valve morphology, Abnormality of the kidney, Cutis marmorata, Miscarriage, Myocard... |
ORPHA:464343 |
Myh9-Related Disease |
|
Elevated hepatic transaminase, Prolonged bleeding time, Renal insufficiency, Proteinuria, Increas... |
ORPHA:182050 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Hepatomegaly, Chronic oral candidiasis, Decreased proportion of ... |
ORPHA:276 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal reticulocyte morphology |
ORPHA:2522 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Decreased beta-glucocerebrosidase level, Thrombocytopenia |
OMIM:231000 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Eczema, Hypoglycemia, Thro... |
OMIM:606054 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Skin rash, Increased total bilirubin |
ORPHA:90036 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Ketonuria, Glomerulopathy, Hypogl... |
ORPHA:79282 |
Majeed Syndrome |
|
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:609628 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia... |
OMIM:200995 |
Imerslund-Grasbeck Syndrome 2 |
|
Megaloblastic anemia |
OMIM:618882 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ... |
ORPHA:289390 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:615158 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes ... |
OMIM:612526 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Hypoglycemia, Elevated circulating aspartate aminotransferase conce... |
OMIM:617093 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Death in infancy, Splenomegaly, Leukocytosis, Death in adolescence, Death in childhood |
OMIM:618042 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated circulating creatine kinase concentration, Impaired T cell function, Inflammation of the... |
OMIM:614576 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Hemolytic anemia |
OMIM:615399 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased muscle mass, Cardiomegaly, Hyperglycemia, Hepatomegaly, Hypogonadotropic hypogonadism, ... |
ORPHA:465508 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Conjugated hyperbilirubinemia, Renal cyst, Elevated gamma-glutamyltransferase level, Atrial septa... |
OMIM:614866 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactiv... |
OMIM:308240 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Secundum atrial sept... |
OMIM:614300 |
Aicardi-Goutieres Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Splenomegaly, Erythema, Cardiomyopathy, P... |
OMIM:225750 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Cryptorchidism, Micropenis, Hypogonadism, Neonatal hyperbilirubinemia |
ORPHA:3363 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno... |
OMIM:300853 |
Porphyria Cutanea Tarda |
|
Abnormal circulating porphyrin concentration, Elevated hepatic iron concentration, Hepatic steato... |
ORPHA:101330 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Immunodeficiency 102 |
|
Leukopenia, Decreased circulating IgG level, Hepatomegaly, Partial absence of specific antibody r... |
OMIM:301082 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy |
ORPHA:99978 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Increased inflammatory response, Hypertriglyceridemia, Increased circulating lactat... |
ORPHA:158061 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Micronodular cirrhosis, ... |
OMIM:606003 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:256810 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Anemia, Leukopenia, Abnormal... |
ORPHA:505248 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatosis, Vacuolated lymphocy... |
ORPHA:275761 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Cardiomegaly, Death in childhood |
OMIM:619064 |
2p15-16.1 microdeletion syndrome |
|
Camptodactyly of finger, Hydronephrosis |
DECIPHER:70 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Elevated cir... |
OMIM:613095 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Stage 5 chronic kidney disease, Hyperammonemi... |
OMIM:251000 |
Hereditary Chronic Pancreatitis |
|
Abnormal circulating enzyme concentration or activity, Leukocytosis, Jaundice, Recurrent pancreat... |
ORPHA:676 |
3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia, Cardiomyopathy, 3-Methylglutaconic aciduria, Decreased liver function, Thrombocytop... |
ORPHA:67048 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Sideroblastic anemia, Hypertrophic cardiomyopathy, Hepatomegaly |
OMIM:613561 |
O'Donnell-Luria-Rodan Syndrome |
|
Prolonged neonatal jaundice |
OMIM:618512 |
Hepatoerythropoietic Porphyria |
|
Hemolytic anemia, Recurrent bacterial skin infections, Abnormal circulating enzyme concentration ... |
ORPHA:95159 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death, Eosinophilia, Neutropenia |
OMIM:257100 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Eczema, Minimal change glome... |
OMIM:618348 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Systemic Lupus Erythematosus 16 |
|
Lupus nephritis |
OMIM:614420 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Patent duc... |
OMIM:615996 |
Lesch-Nyhan Syndrome |
|
Hematuria, Renal insufficiency, Anemia |
ORPHA:510 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... |
OMIM:301006 |
Immunodeficiency, Common Variable, 7 |
|
Recurrent urinary tract infections, Splenomegaly, Chronic (near) absent circulating IgG4, Reduced... |
OMIM:614699 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Myositis, Hypertriglyceridemia, Lipodystrophy, Sinus... |
OMIM:617591 |
Crome Syndrome |
|
Renal tubular epithelial necrosis |
OMIM:218900 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a... |
OMIM:607594 |
C1Q Deficiency 1 |
|
Membranoproliferative glomerulonephritis |
OMIM:613652 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia, Anemia, Lymphadenopathy |
ORPHA:158014 |
Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia |
OMIM:223350 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... |
ORPHA:567548 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Hepatomegaly, Abnormality of the urinary system |
ORPHA:2204 |
Carcinoid Syndrome |
|
Elevated hepatic transaminase, Chronic noninfectious lymphadenopathy, Hepatic necrosis, Facial te... |
ORPHA:100093 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Acanthocytosis |
ORPHA:157850 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Decreased female libido, Skin rash, Miscarriage, Abnorma... |
ORPHA:330015 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Nephritis, Thrombocytopenia, Abnormality of the musculature of the limbs |
ORPHA:3327 |
Felty Syndrome |
|
Episcleritis, Hepatomegaly, Pericarditis, Recurrent urinary tract infections, Sinusitis, Thromboc... |
ORPHA:47612 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hip contracture, Abnormality of the kidney, Abnormal renal cortex morphology, Muscle hemorrhage, ... |
ORPHA:464321 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, Limb hypertonia, HbH hemoglobin, Prolonged neonatal ja... |
ORPHA:423479 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hypouricemia, Increased circulat... |
OMIM:613179 |
Complement Component 4A Deficiency |
|
Cutaneous photosensitivity, Glomerulonephritis, Purpura |
OMIM:614380 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:266120 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Inguinal hernia, Death in infancy, Ventricular septal defect, Thyroid lymphangiecta... |
OMIM:235255 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Reduced natural killer ... |
OMIM:300400 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Orthostatic Hypotension 2 |
|
Anemia |
OMIM:618182 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma |
OMIM:613490 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, Glomerulonephritis |
ORPHA:2172 |
Rift Valley Fever |
|
Elevated hepatic transaminase, Skin rash, Miscarriage, Jaundice, Hepatitis, Uveitis, Hematuria, A... |
ORPHA:319251 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content |
OMIM:232700 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Elevated... |
OMIM:212140 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Cheilitis, Lymphadeno... |
ORPHA:536 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Episcleritis, Keratitis, Splenomegaly, Jaundice, Neu... |
ORPHA:525731 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Thrombocytopenia, Cryptorchidism, Gi... |
OMIM:611209 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content |
OMIM:261750 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Death in infancy, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevat... |
OMIM:617049 |
Macdermot-Winter Syndrome |
|
Camptodactyly of finger, Hydronephrosis, Death in infancy |
OMIM:247990 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... |
ORPHA:436159 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Hepatomegaly, Recurrent urinary tract infections, Ventricular se... |
OMIM:620210 |
Yellow Fever |
|
Renal insufficiency, Anuria, Neutrophilia, Elevated circulating creatine kinase concentration, Ac... |
ORPHA:99829 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Anuria, Acute colitis, Pneumonia, Diabetes mellitus, Pancreatitis... |
ORPHA:544482 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Pericardi... |
ORPHA:77259 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, D... |
OMIM:615122 |
Attrv122I Amyloidosis |
|
Cardiomegaly, Cardiac amyloidosis, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Res... |
ORPHA:85451 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Impaired T cell function, Splenomegaly, Abnormality of the ureter, Amin... |
ORPHA:30 |
Crigler-Najjar Syndrome |
|
Jaundice, Abnormality of the liver |
ORPHA:205 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
Pparg-Related Familial Partial Lipodystrophy |
|
Dysmenorrhea, Maternal diabetes, Prominent veins on trunk, Hepatic steatosis, Loss of facial adip... |
ORPHA:79083 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular... |
OMIM:600649 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Arthritis, Crescentic glomerulonephritis, Elevated circulating C-reactive protein concentration, ... |
OMIM:616414 |
Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... |
ORPHA:169079 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, De... |
OMIM:240500 |
Ogden Syndrome |
|
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic... |
OMIM:300855 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Erythema, Lymphadenopathy |
OMIM:619183 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
H Syndrome |
|
Abnormality of the kidney, Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Micropenis, En... |
ORPHA:168569 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Death in infancy, Decreased liver function, Neonatal death, Hypertrophic cardiomyopathy, Anemia |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Death in infancy, Cardiomyopathy, Decreased liver function, Neonatal death, Anemia |
OMIM:618839 |
Meacham Syndrome |
|
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalo... |
OMIM:608978 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia |
OMIM:618398 |
Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Male infertility, Pancytopenia, Renal agenesis, Hypergonadotropic h... |
OMIM:227650 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Prolonged bleeding time, Microcytic anemia, Abnormality of the menstrual cycle, Pat... |
ORPHA:90308 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia |
ORPHA:3204 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Anemia |
ORPHA:2668 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Neutropenia, Nephropathy,... |
OMIM:617056 |
Gaisböck Syndrome |
|
Plethora, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemog... |
ORPHA:90041 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Duplicated collecting system, Diabetes mellitus, Cholestasis, Hepa... |
ORPHA:541423 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic... |
ORPHA:42 |
Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Erythema nodosum, Splenomegaly, Jaundice... |
OMIM:613471 |
Tarp Syndrome |
|
Extramedullary hematopoiesis, Cyanosis, Cryptorchidism, Horseshoe kidney, Atrial septal defect, T... |
ORPHA:2886 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Hemolytic... |
ORPHA:2968 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Hepatomegaly, Death in infancy, Osteomyelitis, Elevated circulating C-reactive protein concentrat... |
OMIM:619423 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:18 |
Degcags Syndrome |
|
Bilateral renal hypoplasia, Premature graying of hair, Leukopenia, Iron deficiency anemia, Atrial... |
OMIM:619488 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Glomerulopathy, Hypertriglyceridemia,... |
ORPHA:2348 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Urticaria, Splenomegaly, Pancytopenia |
OMIM:614979 |
Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia |
OMIM:275350 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec... |
OMIM:314390 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ... |
OMIM:619534 |
Gaucher Disease Type 2 |
|
Splenomegaly, Hepatomegaly |
ORPHA:77260 |
Galactose Mutarotase Deficiency |
|
Hepatomegaly, Decreased liver function, Cholestasis, Abnormal circulating enzyme concentration or... |
ORPHA:570422 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy... |
ORPHA:93476 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:616435 |
Immunodeficiency 46 |
|
Decreased circulating antibody level, Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating crea... |
OMIM:614921 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Patent ductus arteriosus, Renal tubular dysfunction, Hyperbilirubi... |
OMIM:614886 |
Thyroid Hemiagenesis |
|
Jaundice |
ORPHA:95719 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Abnormal heart morphology, Cardi... |
ORPHA:26791 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Ecch... |
ORPHA:88 |
Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnormality of the liver, Hyp... |
ORPHA:85443 |
Majeed Syndrome |
|
Hepatomegaly, Glomerulopathy, Inflammatory abnormality of the skin, Proteinuria, Acne, Osteomyeli... |
ORPHA:77297 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... |
ORPHA:656 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Paroxysmal Cold Hemoglobinuria |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Hemoglobinuria, Coombs-positive hemolytic an... |
ORPHA:90035 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... |
ORPHA:1451 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Decreased methionine synthase activity, Skin ... |
OMIM:277380 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Death in infancy, Pulmonic stenosis, Restrictive cardiomyopathy, Ascites, Portal ve... |
OMIM:619433 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Neutrophilia, Liver abscess, Abnormality of the kidney, Abnormalit... |
ORPHA:54251 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Inguinal hernia, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectas... |
ORPHA:1655 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom... |
OMIM:615688 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Decreased glomerular filtration rate, N... |
OMIM:232200 |
Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Cardiomyopathy, Jaundice, Acute hepatic failure |
OMIM:616483 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Splenomegaly, Erythema, Lymphadenopathy, Abnormal lymphocyte morphology |
ORPHA:2584 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Patent ductus arteriosus, Hydronephrosis, Increased mean platelet volume |
OMIM:300048 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creati... |
OMIM:615895 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Jaundice |
ORPHA:2349 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Dilated cardiomyopathy, Hepatic necrosis, D... |
ORPHA:71212 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Proteinuria, Chronic neutropenia, Hepatocellular adenoma, Enlarged kidney, Stage 5 ... |
ORPHA:79259 |
Leigh Syndrome |
|
Hepatocellular necrosis |
OMIM:256000 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Skeletal muscle atrophy, Elevated circulating C-reactive... |
OMIM:256040 |
Pyridoxal Phosphate-Responsive Seizures |
|
Pyridoxine-responsive sideroblastic anemia, Hypoglycemia, Abnormal circulating glycine concentrat... |
ORPHA:79096 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis, Lipodystrophy |
OMIM:305800 |
Sarcoidosis |
|
Increased T cell count, Uveitis, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Hemo... |
ORPHA:797 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ... |
OMIM:212050 |
Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Pancytopenia, Ventricular septal defect, Renal agenesis, Hypergonad... |
OMIM:227645 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splenomegaly,... |
OMIM:611762 |
Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Pancytopenia, Renal agenesis, Hypergonadotropic hypogonadism, Ectop... |
OMIM:600901 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Hypospadias, Microcytic anemia, Cryptorchidism, Flexion contracture, Bruising susceptibility, HbH... |
ORPHA:98791 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... |
OMIM:605814 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis |
OMIM:619428 |
Pfapa Syndrome |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:42642 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Elevated circulating aspartate aminotransferase concentration, Bilateral cryptorchidism, Intrahep... |
OMIM:619685 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Elevated hepatic transam... |
OMIM:260400 |
Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Thyroiditis, Lymphadenopathy, ... |
ORPHA:39041 |
Noonan Syndrome 4 |
|
Ureteral duplication, Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Atrial septal... |
OMIM:610733 |
Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hepatomegaly, Elevated hepatic transaminase |
OMIM:306000 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine... |
OMIM:255120 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Cor triatrium sinister, Penoscrotal hypospadias, Ventricular septal defect, Dex... |
OMIM:618280 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lym... |
ORPHA:3226 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Increased urine succinate level, Hypoglycemia, Elevated ci... |
OMIM:619048 |
Alg6-Cdg |
|
Abnormal circulating enzyme concentration or activity, Abnormality of the liver, Jaundice |
ORPHA:79320 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Inguinal hernia, Cholangitis, S... |
OMIM:613610 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocyt... |
OMIM:616100 |
Choreoacanthocytosis |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Abno... |
ORPHA:2388 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, Death in infancy, Hypoglycemia, 4-hydroxyphenyla... |
OMIM:617156 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ... |
OMIM:608022 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly |
ORPHA:85447 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:348 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Patent ductus arteriosus, Hypercalciuria, Nephrocalcinosis, Elliptocytosis, Patent foramen ovale,... |
OMIM:300990 |
Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:79292 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Death in infancy, Hypoplasia of penis, Recurrent urinary tract infections, Abnormal hemoglobin, A... |
ORPHA:847 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Osteomyelitis, Facial palsy, Splenomegaly, Anemia, Elevated circulati... |
OMIM:259700 |
Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lym... |
ORPHA:1333 |
Reynolds Syndrome |
|
Hepatomegaly, Telangiectasia of the skin, Jaundice, Cirrhosis, Ascites, Generalized abnormality o... |
ORPHA:779 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Inguinal hernia, Truncus arteriosus, Ventricular septal defect, Congenital dia... |
OMIM:601186 |
Syndromic Diarrhea |
|
Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thymus, Hepatic fibro... |
ORPHA:84064 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Pancytopenia, Inguinal hernia, Recurrent urinary tract infections,... |
OMIM:613658 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, ... |
OMIM:612561 |
Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Leukopenia, Increased circulating IgG level, Glucose in... |
ORPHA:2298 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Mediastinal lymphadenopat... |
ORPHA:83469 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Decreased circulating antibod... |
ORPHA:397596 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Intrahepatic cholestasi... |
ORPHA:97282 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Exercise-induc... |
ORPHA:26793 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Elevated circulating alkaline phosphat... |
OMIM:613489 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Renal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concent... |
OMIM:619386 |
Fanconi Anemia, Complementation Group D2 |
|
Ectopic kidney, Reticulocytopenia, Neutropenia, Micropenis, Pelvic kidney, Agenesis of corpus cal... |
OMIM:227646 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Petechiae, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Hepati... |
OMIM:608013 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Thrombocytopenia, Methylmalonic ac... |
OMIM:251110 |
Mevalonic Aciduria |
|
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Skin rash, Elevated circulating cre... |
OMIM:610377 |
Postinfectious Vasculitis |
|
Elevated circulating C-reactive protein concentration, Gastrointestinal inflammation, Bacterial e... |
ORPHA:48435 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Aortic valve stenosis, Thrombocy... |
OMIM:230800 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatic steatosis, Hepatomegaly, Generalized muscular appearance from birth, Umbilical hernia, El... |
OMIM:269700 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Cyanosis, Splenomegaly, Chylopericardium, Pulmonic stenosis, Ascites |
ORPHA:2414 |
Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Skeletal muscle atrophy, Splenomegaly, Flexion contracture, Umbili... |
ORPHA:87876 |
Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Abnormality ... |
ORPHA:2035 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophi... |
ORPHA:829 |
Adams-Oliver Syndrome 6 |
|
Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypoplasia, Hepatic fibrosis,... |
OMIM:616589 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, Portal fibro... |
ORPHA:369 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Anemia |
ORPHA:371 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... |
OMIM:150550 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Hypertrophic cardiomyopa... |
OMIM:220110 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypert... |
ORPHA:57777 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Hypercalciuri... |
OMIM:239200 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto... |
ORPHA:331206 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Diabetes mellitus, Increased circulating ferritin concentration, E... |
ORPHA:79230 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Abnorm... |
OMIM:613390 |
Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormality of the spleen... |
ORPHA:1834 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Ventricular septal defect, Congenital diaphragmatic hernia, Ectopic kidney, Mo... |
OMIM:613309 |
Hereditary Methemoglobinemia |
|
Cyanosis, Methemoglobinemia |
ORPHA:621 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Patent ductus arteriosus after premature birth, Renal hypoplasia, Renal cys... |
OMIM:618460 |
Rhabdoid Tumor |
|
Renal neoplasm, Lymphadenopathy, Anemia, Neoplasm of the liver, Hematuria, Thrombocytopenia |
ORPHA:69077 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypospadias, Ventricular septal defect, Renal agenesis, Cryptorchidism, Reduced alpha/beta synthe... |
OMIM:301040 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Abnormal urine sebacic acid conc... |
OMIM:615751 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Skeletal muscle steatosis, Renal tubular dysfunctio... |
ORPHA:436271 |
Cinca Syndrome |
|
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia |
OMIM:607115 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Urinary incontinence, Acanthocytosis |
OMIM:234200 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria, Hepatic failure |
ORPHA:664 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... |
OMIM:233600 |
Idiopathic Congenital Hypothyroidism |
|
Macroglossia, Umbilical hernia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:95717 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Death in childhood, Hypert... |
OMIM:246900 |
Galactokinase Deficiency |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Premature ovarian insufficie... |
ORPHA:79237 |
Listeriosis |
|
Liver abscess, Granulomatosis, Conjunctivitis, Cholecystitis, Infectious encephalitis, Pyelonephr... |
ORPHA:533 |
Goodpasture Syndrome |
|
Renal insufficiency, Cyanosis, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuri... |
OMIM:233450 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Vesicoureteral reflux, Renal cortical cysts, ... |
OMIM:130650 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... |
OMIM:104200 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Hiatus hernia, Patent ductus arteriosus, Recurrent pneumonia, Persiste... |
OMIM:619769 |
Crimean-Congo Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Leukopenia, Increased circulating IgG level, ... |
ORPHA:99827 |
Thyrocerebroretinal Syndrome |
|
Skeletal muscle atrophy, Nephritis, Thrombocytopenia |
OMIM:274240 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Aceruloplasminemia |
|
Torticollis, Diabetes mellitus, Decreased serum iron, Increased circulating ferritin concentratio... |
OMIM:604290 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Intrahepatic cholestasi... |
ORPHA:97283 |
Bone Marrow Failure Syndrome 4 |
|
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt... |
OMIM:618116 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Flexion contracture, Renal cyst, Hypoalbuminemia, Hepatic fibrosis, Death in childhood, Hypochole... |
OMIM:212065 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Bone marrow hypocellularity, Cirrhosi... |
OMIM:614742 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ... |
OMIM:251100 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Absence of ly... |
OMIM:608184 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Dicarboxylic acidu... |
ORPHA:99901 |
Fgfr2-Related Bent Bone Dysplasia |
|
Extramedullary hematopoiesis, Hepatosplenomegaly |
ORPHA:313855 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Hepatomegaly, Ventricular septal defect, Death in infancy |
OMIM:613730 |
Livedoid Vasculopathy |
|
Leukocytosis, Pancytopenia, Polycythemia, Anemia |
ORPHA:542643 |
Q Fever |
|
Abnormality of the liver, Cholecystitis, Infectious encephalitis, Hepatomegaly, Maculopapular exa... |
ORPHA:781 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... |
ORPHA:100085 |
Whipple Disease |
|
Hyponatremia, Hepatomegaly, Pericarditis, Myositis, Mediastinal lymphadenopathy, Splenomegaly, My... |
ORPHA:3452 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Patent ductus arteriosus, Hernia, Atrial septal defect, Hypertrophic cardiomyopathy... |
ORPHA:1842 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... |
ORPHA:94088 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Erdheim-Chester Disease |
|
Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Abnormal pericardium morphology, Hypogona... |
ORPHA:35687 |
Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Cirrhosis, Ascites |
OMIM:215600 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Increased circulating IgG4 level, Elevated circulating C-reactiv... |
ORPHA:449400 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Petechiae, Hypergonadotropic hypog... |
OMIM:617053 |
Congenital Myopathy 19 |
|
Skeletal muscle atrophy, Facial hypotonia, Cryptorchidism, Renal atrophy, Congenital contracture,... |
OMIM:618578 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:617388 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Microcytic anemia, L... |
OMIM:251900 |
Acth Deficiency, Isolated |
|
Jaundice, Cholestasis |
OMIM:201400 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Death in infancy, Hypospadias, Ventricular septal def... |
ORPHA:912 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Impaired glucose tolerance, Splenomegaly, Chronic kidney... |
OMIM:615630 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Micropenis, Pancreatic h... |
OMIM:602782 |
Takenouchi-Kosaki Syndrome |
|
Inguinal hernia, Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Cryptorc... |
OMIM:616737 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Hypoglyc... |
OMIM:229600 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Darier's sign, Urticaria, Abnormality o... |
ORPHA:79456 |
Multiple Myeloma |
|
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... |
ORPHA:29073 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Pulmonic stenosis |
ORPHA:251076 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Joint contracture of the han... |
OMIM:179613 |
North American Indian Childhood Cirrhosis |
|
Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice |
OMIM:604901 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Hypoglycemia, Lactic... |
ORPHA:3008 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Decreased circulating antibody level, Iron deficiency anemia, Hypoalbuminemia, Thro... |
OMIM:226300 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... |
OMIM:614700 |
Systemic Sclerosis |
|
Renal insufficiency, Pericarditis, Proteinuria, Elevated circulating creatine kinase concentratio... |
ORPHA:90291 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Patent foramen ovale... |
OMIM:614582 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Death in infancy, Dicarboxylic aciduria, Hypoglycemia, Microvesicu... |
OMIM:611126 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Severe B lymphocytopenia, Sinusitis, Hepatomegaly, Autoimmune thromb... |
OMIM:102700 |
Mulibrey Nanism |
|
Hepatomegaly |
ORPHA:2576 |
Farber Lipogranulomatosis |
|
Splenomegaly, Hepatomegaly, Lipogranulomatosis, Decreased acid ceramidase activity |
OMIM:228000 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Death in infancy, Splenomegaly, Recurrent pneumonia, Decreased circulating total Ig... |
OMIM:612301 |
Immunodeficiency 54 |
|
Splenomegaly, Hepatomegaly, Reduced natural killer cell count, Lymphadenopathy |
OMIM:609981 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Thickening of the tubular basement membrane, Polyuria, Impaired renal concen... |
OMIM:266900 |
Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Myositis, Multiple joint contractures, Lipoatrophy, Chilblains, Cu... |
ORPHA:51 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Tricuspid stenosis, Dermatological manifestations of systemic diso... |
ORPHA:100078 |
Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Anemia |
ORPHA:375 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg... |
ORPHA:98850 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Ureteral duplication, Nephroblastoma, Cardiomegaly, Splenomegaly, Abnormal pancreas... |
ORPHA:116 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Cyanosis, Ventricular septal defect, Abnor... |
ORPHA:860 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc... |
OMIM:602450 |
Uremic Pruritus |
|
Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec... |
ORPHA:94059 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circul... |
ORPHA:158048 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Anemia |
OMIM:614514 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Hypoglycemia, Mesangial hypercell... |
OMIM:617575 |
Developmental And Epileptic Encephalopathy 75 |
|
Cardiomyopathy, Decreased liver function, Prolonged neonatal jaundice |
OMIM:618437 |
Orthostatic Hypotension 1 |
|
Neonatal hypoglycemia, Increased blood urea nitrogen, Retrograde ejaculation, Hypomagnesemia, Wea... |
OMIM:223360 |
X-Linked Intellectual Disability, Schimke Type |
|
Hip contracture, Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, ... |
ORPHA:85285 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Increased inflammatory response, Skin rash, Elevated circulating c... |
ORPHA:542323 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo... |
ORPHA:911 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular necrosis, He... |
ORPHA:90062 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Reduced xanthine dehydrogenase level, Hypourice... |
ORPHA:3467 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Renal insufficiency, Reduced circulating aldolase concentration, Reactive hypoglyce... |
ORPHA:469 |
Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... |
OMIM:139090 |
Digeorge Syndrome |
|
Impaired T cell function, Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemia, Hep... |
OMIM:188400 |
Carpenter Syndrome 1 |
|
Omphalocele, Hydroureter, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Jo... |
OMIM:201000 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Reduced subcutaneous adipose tissue, Abnormal renal glomerulus morphology, Renal insufficiency, M... |
OMIM:137940 |
Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... |
OMIM:608600 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Skeletal muscle atrophy, Rhabdomyosarcoma, Recurre... |
ORPHA:647 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Immunodeficiency 92 |
|
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... |
OMIM:619652 |
Idiopathic Pulmonary Arterial Hypertension |
|
Chronic hemolytic anemia, Abnormality of connective tissue, Right ventricular hypertrophy |
ORPHA:275766 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Cardiomyopathy, Hepatic fib... |
OMIM:232400 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Hepatomegaly, Elevated hepatic transaminase, E... |
ORPHA:2394 |
Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal heart val... |
ORPHA:99776 |
Mody |
|
Elevated hemoglobin A1c, Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin... |
ORPHA:552 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney |
ORPHA:79128 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... |
OMIM:618394 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Hydronephrosis, In... |
OMIM:154230 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula... |
OMIM:300280 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Chronic hepatitis due to cryptos... |
ORPHA:572 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Ectodermal dysplasia, Cardiomegaly |
OMIM:613576 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:391 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Skin rash, Cellular urinary casts, Jaundice, Rhabdomyolysis, Hepatiti... |
ORPHA:509 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Abnormal tricuspid valve morphology, Anemia |
ORPHA:3405 |
Hyperparathyroidism, Transient Neonatal |
|
Unilateral renal agenesis, Enlarged kidney, Splenic cyst |
OMIM:618188 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Congenital diaphragmatic hernia, Atrial septal defect,... |
ORPHA:373 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Eczema, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculit... |
ORPHA:508542 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Portal hypertension, Dilate... |
ORPHA:367 |
Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Secundum atrial septal defect, Patent duc... |
OMIM:617397 |
Oslam Syndrome |
|
Anemia |
OMIM:165660 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Fetal ascites, Flexion contracture, Knee flexion contracture, Facial erythema, Hypocalcemia, Chro... |
OMIM:619503 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... |
ORPHA:100086 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hepatomegaly, Elevated hepatic transaminase, Ventricular sept... |
OMIM:615673 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Primary Biliary Cholangitis |
|
Portal hypertension, Jaundice, Hepatic failure, Hepatitis, Biliary cirrhosis, Abnormal intrahepat... |
ORPHA:186 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Skin rash, Abnormality of the pancreas, Jaundice, Elevated circula... |
ORPHA:69665 |
Alg9-Cdg |
|
Hepatomegaly, Hypoplasia of the bladder, Ventricular septal defect, Ureteral hypoplasia, Pericard... |
ORPHA:79328 |
Poems Syndrome |
|
Thrombocytosis, Polycythemia |
ORPHA:2905 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Skeletal muscle atrophy, Hypolysinemia, Increased circulating ferritin concentratio... |
OMIM:222700 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Nephroblastoma, Ascites |
OMIM:253250 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... |
ORPHA:324575 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Neutropenia in presence of anti... |
OMIM:615952 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:616433 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Leukopenia, Neutropenia, Pa... |
ORPHA:811 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Umbilical hernia, Abnormal circulating thyroglobulin level, Prolon... |
ORPHA:95715 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Sin... |
OMIM:251260 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Granuloma... |
ORPHA:562639 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Proteinuria, Splenomegaly, Aplasia/Hypoplasia of the abdominal wall musculature, Ne... |
ORPHA:834 |
Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Viral hepatitis, Glomerulopathy, Renal insufficiency, Proteinuria, Splenomegaly, Me... |
ORPHA:91138 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Abnormality of the thenar eminence, Hypospadias, Ventricular septal defec... |
ORPHA:124 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia, Cardiomyopathy, Organic aciduria, Propionyl-CoA carbo... |
ORPHA:35 |
Sézary Syndrome |
|
Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte m... |
ORPHA:3162 |
Hsd10 Disease, Infantile Type |
|
Abnormal circulating enzyme concentration or activity, Cyanosis, Hypoglycemia, Cardiomegaly, Hype... |
ORPHA:391428 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypokalemia, Aminoaci... |
OMIM:617913 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis, Scrotal hypospadias, Hypospadias, Micropenis, Methemoglobinemia |
OMIM:250790 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Abno... |
OMIM:216360 |
Joubert Syndrome 33 |
|
Splenomegaly |
OMIM:617767 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Hypospadias, Mitral stenosis, Ventricular septal defect, C... |
ORPHA:163956 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Dysmenorrhea, Premature graying of hair, Increased intra... |
ORPHA:280365 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Pancreatic steatosis, Thrombocytop... |
OMIM:617052 |
Aceruloplasminemia |
|
Refractory anemia, Abnormal circulating enzyme concentration or activity, Torticollis, Decreased ... |
ORPHA:48818 |
Cronkhite-Canada Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:2930 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Familial Thyroid Dyshormonogenesis |
|
Macroglossia, Prolonged neonatal jaundice, Umbilical hernia, Abnormal circulating thyroglobulin l... |
ORPHA:95716 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:619151 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Proteinuria, Abnormal heart valve morphol... |
ORPHA:77261 |
Sandhoff Disease |
|
Hepatomegaly, Skeletal muscle atrophy, Reduced beta-hexosaminidase activity, Urinary incontinence... |
OMIM:268800 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect... |
ORPHA:500095 |
Essential Thrombocythemia |
|
Splenomegaly, Abnormal platelet morphology, Acute leukemia |
ORPHA:3318 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Hepatomegaly, Pericarditis, Lymphadenopathy |
ORPHA:85414 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Ventricular septal defect, Cryptorchi... |
OMIM:214100 |
Kawasaki Disease |
|
Pericarditis, Proteinuria, Abnormal heart valve morphology, Skin rash, Myocarditis, Leukocytosis,... |
ORPHA:2331 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, ... |
OMIM:616576 |
Cat-Eye Syndrome |
|
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:195 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Hepatomegaly, Renal insufficiency, Glomerulopathy, Proteinuria, Abnormal heart valv... |
ORPHA:36412 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creati... |
ORPHA:228305 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art... |
ORPHA:210122 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
Mogs-Cdg |
|
Decreased circulating IgG level, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Decreased circul... |
ORPHA:79330 |
Image Syndrome |
|
Hypogonadism, Cryptorchidism, Hypospadias, Hydronephrosis |
ORPHA:85173 |
Joubert Syndrome 37 |
|
Hepatomegaly, Cryptorchidism, Hydronephrosis, Micropenis, Decreased testicular size |
OMIM:619185 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Death in infancy, Renal insufficiency, Polycystic liver disease, Proteinuria, Pancreatic fibrosis... |
OMIM:208500 |
Orofaciodigital Syndrome Xv |
|
Agenesis of corpus callosum, Hydronephrosis |
OMIM:617127 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic c... |
OMIM:614702 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane... |
OMIM:243150 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta... |
OMIM:619484 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Hypertrophic cardiomyopathy, Enl... |
OMIM:252500 |
Hijazi-Reis Syndrome |
|
Hyperbilirubinemia |
OMIM:301094 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Abnormal ... |
OMIM:618494 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Ventricular septal defect, Cardiomegaly, Flexion contracture, Micropenis, Hypertroph... |
OMIM:616897 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis |
OMIM:216950 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Urinary incontinence, Elevated circu... |
OMIM:232300 |
Joubert Syndrome 8 |
|
Hepatomegaly, Prolonged neonatal jaundice |
OMIM:612291 |
6P22 Microdeletion Syndrome |
|
Patent ductus arteriosus, Hydronephrosis, Hernia |
ORPHA:251046 |
Lassa Fever |
|
Menometrorrhagia, Miscarriage, Jaundice, Oliguria, Increased circulating IgM level, Conjunctivitis |
ORPHA:99824 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,... |
ORPHA:93111 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Incr... |
OMIM:616005 |
Diabetic Embryopathy |
|
Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality of the pan... |
ORPHA:1926 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hernia, Abnormality of the lower urinary tract, Hyperbilirubinemia, Hiatus hernia |
ORPHA:101009 |
Bachmann-Bupp Syndrome |
|
Cryptorchidism, Hypoglycemia, Hyperbilirubinemia |
OMIM:619075 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Perianal abscess, Hyperlipidemia, Ja... |
ORPHA:444490 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Glomerular sclerosi... |
OMIM:223900 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Renal insufficiency, Hype... |
OMIM:203800 |
Aredyld Syndrome |
|
Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Splenomegaly, Abnormality of the ur... |
ORPHA:1133 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Cryptorchidism, Patent ductus arteriosus, Hydronephrosis |
OMIM:619797 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Posterolateral diaphragmatic hernia, Inguinal hernia, Death in infancy, Progero... |
OMIM:613177 |
Lig4 Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Pancytopenia, Telangiectasia of the skin, Cryptorchidism, Leuk... |
ORPHA:99812 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Lymphocytosis, Hypoch... |
ORPHA:514 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Renal insufficiency, Purpura, Cutis marmorata, Abnormality of ne... |
ORPHA:33226 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Death in infancy, Abnormal heart valve morphology, Splenomegaly, Vacuolated lymphoc... |
OMIM:230500 |
Sotos Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, Cryptorchidism, Muscular ventricular septal... |
OMIM:117550 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... |
ORPHA:567546 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hepatomegaly, Death in infancy, Hypospadias, Abnormal pulmonary valve morphology, Camptodactyly o... |
ORPHA:1194 |
Suleiman-El-Hattab Syndrome |
|
Inguinal hernia, Ventricular septal defect, Cryptorchidism, Atrial septal defect, Patent foramen ... |
OMIM:618950 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Dengue Fever |
|
Hepatomegaly, Skin rash, Petechiae, Bruising susceptibility, Leukopenia, Ascites, Hypoproteinemia... |
ORPHA:99828 |
Kabuki Syndrome 1 |
|
Hemolytic anemia, Crossed fused renal ectopia, Ventricular septal defect, Autoimmune thrombocytop... |
OMIM:147920 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Patent ductus arteriosus, Jaundice, 3-Methylglutaric aciduria, 3-Methylglutacon... |
OMIM:617248 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Actinic Prurigo |
|
Cheilitis, Cutaneous photosensitivity, Pyoderma, Glomerulonephritis |
OMIM:174770 |
Afibrinogenemia, Congenital |
|
Death in infancy, Splenic rupture, Death in adolescence, Death in childhood, Neonatal death, Brui... |
OMIM:202400 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cyanosis, Cardiomegaly, Pericardial effusion, Right atrial enlargement, Anomalous p... |
ORPHA:555874 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or ... |
ORPHA:565612 |
Acquired Methemoglobinemia |
|
Cyanosis, Methemoglobinemia |
ORPHA:464453 |
Fanconi-Bickel Syndrome |
|
Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Hepatomegaly, Elevated circulating aspartate... |
ORPHA:2088 |
Jacobsen Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Inguinal hernia, Ventricular septal defect, Eczem... |
ORPHA:2308 |
Trisomy 13 |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Abnormality of the ureter, M... |
ORPHA:3378 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:231095 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Prolonged bleeding time, ... |
OMIM:608233 |
3C Syndrome |
|
Death in infancy, Hypoplasia of penis, Inguinal hernia, Hypospadias, Ventricular septal defect, A... |
ORPHA:7 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
Fucosidosis |
|
Hepatomegaly, Angiokeratoma, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Flexion contract... |
OMIM:230000 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Death in infancy, Left ventricular noncompaction cardiomyopathy, Left atrial enlarg... |
OMIM:619424 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Partial agenesis of the corpus callosum, Flexion contracture, Renal cyst, Knee flexion contractur... |
OMIM:210710 |
Mirizzi Syndrome |
|
Dark urine, Elevated hepatic transaminase, Pancreatitis, Jaundice, Elevated circulating alkaline ... |
ORPHA:521219 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Death in infancy, Death in childhood, Neutropenia, Hyperechogeni... |
OMIM:617941 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro... |
OMIM:608594 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyp... |
OMIM:615710 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Inguinal hernia, Pulmonic stenosis, Facial telangiectasia, Contracture of the proximal interphala... |
OMIM:620141 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Renal insufficiency, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pu... |
OMIM:220210 |
Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Pericarditis, Elevated circu... |
ORPHA:900 |
Nail-Patella Syndrome |
|
Renal insufficiency, Biceps aplasia, Proteinuria, Glomerulonephritis, Absence of pectoralis minor... |
OMIM:161200 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Death in infancy, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:230900 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Urethral stenosis, Hydronephrosis, Hypoplastic left heart, Transpositi... |
ORPHA:1727 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Insulin resistance, Hypogonadism, Neonatal hyperbilirubinemia, Hypoglycemia |
ORPHA:73272 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skeletal muscle atrophy, Recurrent skin infections, Decreased serum iron, Dilated cardiomyopathy,... |
ORPHA:89842 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis, Pulmonic stenosis |
OMIM:264140 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Renal agenesis, Hypercalcemia, Splenomegaly, Cryptorchidism, Elbow flexion contract... |
OMIM:618440 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Inguinal hernia, Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Patent d... |
ORPHA:487796 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Hypoglycemia, Leukocytosis, Hyperammonemia, Hyperuricemia, Thrombocytosi... |
ORPHA:134 |
Stromme Syndrome |
|
Accessory spleen, Bilateral renal hypoplasia, Myopathy, Stillbirth, Agenesis of corpus callosum, ... |
OMIM:243605 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul... |
OMIM:613327 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Vesicoureteral reflux, Prolonged neonatal jaundice |
OMIM:618828 |
Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Mitral valve calcification, Proteinuria, Abnormal pericardium morphol... |
ORPHA:355 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Splenomegaly, Hepatomegaly, Reduced renal corticomedullary differentiation |
OMIM:618541 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia |
ORPHA:2169 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia, Hepatitis, Hypoglycemic seizures, Prolonged neonatal jaundice, Neonat... |
ORPHA:199296 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Atrial septal defect, Pleural lymphangiectasia, Pericardial lymphangiectasia, Ventricular septal ... |
OMIM:235510 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder, Purpura |
OMIM:254450 |
Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Elevated gamma-glutamyltransferase... |
OMIM:243800 |
Bone Marrow Failure Syndrome 5 |
|
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level |
OMIM:618165 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:613944 |
Hydatidiform Mole |
|
Anemia |
ORPHA:99927 |
Dubowitz Syndrome |
|
Hypospadias, Eczema, Abnormality of neutrophils, Cutis marmorata, Thrombocytopenia, Cryptorchidis... |
ORPHA:235 |
Von Hippel-Lindau Syndrome |
|
Polycythemia |
OMIM:193300 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Asplenia, Anemia, Hematuria, Hypoplastic spleen, Thrombocytopenia |
OMIM:185070 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopath... |
ORPHA:379 |
Primary Hyperoxaluria Type 1 |
|
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... |
ORPHA:93598 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Elevated hepatic transaminase, Cryptorchidism, Jaundice, Flexion contracture, Hypoproteinemia |
OMIM:608093 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney |
OMIM:613091 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Cholestasis, Hypoglycemic seizures, Hyperbilirubinemia |
OMIM:609734 |
Isolated Sedoheptulokinase Deficiency |
|
Renal insufficiency, Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, ... |
ORPHA:440713 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Inguinal hernia, Decreased muscle mass, Abnormal heart valve morphology, Recurrent skin infection... |
ORPHA:2953 |
Timothy Syndrome |
|
Ventricular septal defect, Pneumonia, Hypoglycemia, Cardiomegaly, Patent ductus arteriosus, Hypoc... |
OMIM:601005 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Camptoda... |
OMIM:613385 |
Vacterl/Vater Association |
|
Omphalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Cong... |
ORPHA:887 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Ketonuria, Cyanosis, Hypoglycemia, Low plasma citrulline, Elevated circulating alan... |
OMIM:261680 |
Williams-Beuren Region Duplication Syndrome |
|
Cutis marmorata, Unilateral renal agenesis, Cryptorchidism, Patent ductus arteriosus, Chronic oti... |
OMIM:609757 |
Smith-Lemli-Opitz Syndrome |
|
Partial agenesis of the corpus callosum, Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Atrial... |
OMIM:270400 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukopenia, L... |
ORPHA:50918 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Macrocytic anemia, Premature ovarian insufficiency, Hypoglycemia... |
ORPHA:199299 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Death in infancy, Renal hypoplasia, Renal cyst, Renal tubular ... |
OMIM:614922 |
Alström Syndrome |
|
Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of the Leydig cells, Hepa... |
ORPHA:64 |
Trisomy 17P |
|
Skeletal muscle atrophy, Hypoplasia of penis, Urethral valve, Patent ductus arteriosus, Urethral ... |
ORPHA:261290 |
Refsum Disease, Classic |
|
Decreased phytanoyl-CoA hydroxylase activity, Cardiomegaly, Elevated circulating phytanic acid co... |
OMIM:266500 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... |
OMIM:249100 |
Trisomy 1Q |
|
Omphalocele, Multicystic kidney dysplasia, Ventricular septal defect, Camptodactyly of finger, Co... |
ORPHA:261344 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:617713 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p... |
OMIM:607361 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Penile freckling, Splenomegaly, Decreased circulating antibody level, Hydrocele tes... |
OMIM:605309 |
Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T c... |
ORPHA:760 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Neonatal death, At... |
OMIM:265380 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atrial septal defect, Patent f... |
OMIM:618652 |
Allan-Herndon-Dudley Syndrome |
|
Skeletal muscle atrophy, Cryptorchidism, Flexion contracture, Prolonged neonatal jaundice, Limb h... |
ORPHA:59 |
Alagille Syndrome 1 |
|
Multiple small medullary renal cysts, Atrial septal defect, Vesicoureteral reflux, Renal hypoplas... |
OMIM:118450 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Patent ductus arteriosus, Flexion contracture, Dilatation of the renal... |
ORPHA:314588 |
Endocrine-Cerebroosteodysplasia |
|
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney |
OMIM:612651 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Urinary incontinence, Hiatus hernia, Urinary hesitancy, Urinary urgency, Neonatal hyperbilirubine... |
OMIM:609727 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Fetal ascites, Pericardial effusion, Thrombocytopenia, Leukocytos... |
ORPHA:292 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Telangiectasia of the skin, Abnormalit... |
ORPHA:1775 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormal circulating fatty-acid concent... |
ORPHA:263455 |
Mucopolysaccharidosis, Type Iiia |
|
Splenomegaly, Hepatomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy |
OMIM:252900 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Hydroureter, Hydronephrosis |
OMIM:618240 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Perianal erythema, Impaired T cell function, Splenomegaly, Low alkaline phosphatase... |
OMIM:201100 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Prominent superficial veins, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus... |
ORPHA:528 |
Xanthinuria, Type I |
|
Reduced xanthine dehydrogenase level, Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Py... |
OMIM:278300 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, 3-hydroxydicarb... |
OMIM:619355 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Abnormality of the lymphatic system, Enlarged kidney |
ORPHA:276280 |
Fryns Syndrome |
|
Omphalocele, Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Ventricular septal def... |
OMIM:229850 |
Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Dextrocardia, Unilateral renal agenesis, Conjugated hyperbilirubinemia... |
OMIM:620305 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta 2-microglobulin... |
ORPHA:97362 |
Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Splenomegaly, Hypersplenism, Right ventricular hypertrophy, Pulmonic sten... |
OMIM:616028 |
Immunodeficiency 22 |
|
Decreased circulating IgG level, Pericarditis, Anemia, Decreased circulating total IgM, Decreased... |
OMIM:615758 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Atrial septal defect, Uterine prolapse, Bicuspid aortic valve, Ventricular septal defect, Decreas... |
ORPHA:438213 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Recurrent pneumonia, Cardiomegaly, Vascular skin abnormality, Oligosacchariduria |
ORPHA:3137 |
Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent urinary tract infections, Mediastinal lymphadenopathy, T... |
ORPHA:169105 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly, Erythema |
ORPHA:33577 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Hydroureter... |
ORPHA:90324 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ... |
OMIM:610199 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Miscarriage, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis |
ORPHA:71493 |
Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu... |
OMIM:243910 |
8P Inverted Duplication/Deletion Syndrome |
|
Small hypothenar eminence, Dextrocardia, Cryptorchidism, Abnormal heart morphology, Contractures ... |
ORPHA:96092 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Renal tubular... |
ORPHA:156 |
Cocaine Intoxication |
|
Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Rhabdomyolys... |
ORPHA:90068 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Cyanosis, Elevated circulatin... |
ORPHA:159 |
Fanconi Anemia, Complementation Group R |
|
Pelvic kidney, Bone marrow hypocellularity, Anemia |
OMIM:617244 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Death in infancy, Diabetes mellitus, Hypoglycemia, Secundum ... |
OMIM:609069 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Prolonged neonatal jaundice |
OMIM:618868 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... |
OMIM:105650 |
Iga Nephropathy, Susceptibility To, 1 |
|
Purpura, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the... |
OMIM:161950 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:207750 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Functional abnormality of the bladder, T lymphocytopenia, Patent foramen ovale, Infectious enceph... |
ORPHA:391487 |
Distal Duplication 6P |
|
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia, Hernia |
ORPHA:1745 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Duplicated collecting system, Hepatomegaly, Inguinal hernia, Ventricular septal defect, Elevated ... |
OMIM:280000 |
Idiopathic Hypereosinophilic Syndrome |
|
Skeletal muscle atrophy, Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Leukocy... |
ORPHA:3260 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Hypertriglyceridemia, Pr... |
OMIM:619127 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Inguinal hernia, Hydronephrosis |
OMIM:235760 |
American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy |
ORPHA:3386 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Abnormality of the gallbladder, Acrocyanosis, Vascular skin abnormality |
ORPHA:349 |
Tangier Disease |
|
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Hepatosplenom... |
ORPHA:31150 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:619051 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Proximal muscle weakness in upper lim... |
ORPHA:435660 |
Distal Xq28 Microduplication Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Neonatal hyperbilirubinemia |
ORPHA:293939 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hypert... |
OMIM:615381 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Dea... |
OMIM:602579 |
Joubert Syndrome 35 |
|
Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:618161 |
Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria,... |
OMIM:219800 |
Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Cryptorchidism, Agenesis of corpus callosum, Lipoma, Subvalvular aorti... |
OMIM:613001 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Bicuspid aortic valve, Ventricular septal ... |
ORPHA:261494 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Jaundice, Prolonged neonatal jaundice |
OMIM:613038 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l... |
OMIM:619381 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Peritoneal effusion, Pericardial effusion, Abnormal lymphatic ve... |
ORPHA:90362 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Abnormal abdomen morphology, Ex... |
ORPHA:97278 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Abnorm... |
ORPHA:98907 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Abnormal tricuspid valve morphology, Dextrocardia |
ORPHA:1759 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Inguinal hernia, Severe B lymphocytopenia, Superficial dermal perivascular inflamma... |
ORPHA:83617 |
Copper Deficiency, Familial Benign |
|
Anemia |
OMIM:121270 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Stomatitis, Chronic pancreati... |
OMIM:232240 |
Netherton Syndrome |
|
Skin rash, Eczema, Ectopic kidney, Increased circulating IgE level, Decreased circulating antibod... |
ORPHA:634 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Prolonged neonatal jaundice |
ORPHA:226313 |
Peroxisome Biogenesis Disorder 6B |
|
Elevated circulating phytanic acid concentration, Distal amyotrophy, Decreased liver function, Pr... |
OMIM:614871 |
Focal Dermal Hypoplasia |
|
Acute hepatic failure, Omphalocele, Multicystic kidney dysplasia, Inguinal hernia, Ventricular se... |
ORPHA:2092 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Corticosteroid-Binding Globulin Deficiency |
|
Anemia, Decreased urinary potassium |
OMIM:611489 |
Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:301050 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Renal insufficiency, Decreased female libido, Hypoglycemia, Hype... |
ORPHA:95409 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic aciduria, Hypo... |
OMIM:212138 |
Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulm... |
ORPHA:100075 |
Cardiofaciocutaneous Syndrome 1 |
|
Splenomegaly, Atopic dermatitis, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyop... |
OMIM:115150 |
Kury-Isidor Syndrome |
|
Recurrent otitis media, Ventricular septal defect, Hydronephrosis |
OMIM:619762 |
African Trypanosomiasis |
|
Hepatomegaly, Renal insufficiency, Pericarditis, Miscarriage, Urinary incontinence, Abnormality o... |
ORPHA:3385 |
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 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Ventricular septal defect, Dilated cardiomyopathy, Arthrogryposis multip... |
OMIM:607598 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Anemia, Thrombocytopenia, Lymphopenia, Portal hypertension |
OMIM:620365 |
Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Recurrent urinary tract infections, Neutrophilia, Severe periodontitis, Scarring, M... |
ORPHA:99843 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... |
OMIM:203700 |
Poikiloderma With Neutropenia |
|
Skin rash, Elevated circulating creatine kinase concentration, Splenomegaly, Recurrent pneumonia,... |
OMIM:604173 |
Cat Eye Syndrome |
|
Atrial septal defect, Ventricular septal defect, Renal agenesis, Patent ductus arteriosus, Biliar... |
OMIM:115470 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Inguinal hernia, Cutis marmorata, Renal hypoplasia, Vesicoureteral reflux, Agenesis of corpus cal... |
OMIM:613735 |
Sarcoidosis, Susceptibility To, 2 |
|
Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy |
OMIM:612387 |
Tarp Syndrome |
|
Horseshoe kidney, Neonatal death, Hepatic failure, Atrial septal defect, Tetralogy of Fallot, Hyd... |
OMIM:311900 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Atrial septal defect, Ventricular septal defect, Hypospadias, Splenomegaly, Renal c... |
OMIM:312870 |
Scrub Typhus |
|
Anterior uveitis, Renal insufficiency, Skin rash, Myocarditis, Splenomegaly, Lymphadenopathy, Inf... |
ORPHA:83317 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega... |
OMIM:260920 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal hypertrophy, He... |
OMIM:252930 |
Mpi-Cdg |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Portal hypertension, Hepatic... |
ORPHA:79319 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Death in infancy, Increased circulating NT-proBNP concentration, Hypoglycemia, Recurrent myoglobi... |
OMIM:620300 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ... |
ORPHA:158684 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Ketonuria, Renal hypoplasia |
OMIM:619053 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Inguinal hernia, Decreased iduronate sulfatase level, Abnormal heart valve morpholo... |
OMIM:309900 |
Zaki Syndrome |
|
Renal agenesis, Congenital diaphragmatic hernia, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:619648 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Dilated cardiomyopathy, Left ventricular noncompaction, Neonatal death, Left ventri... |
OMIM:619167 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435651 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Urethral valve, Hydroureter, Cryptorchidism, Urethral obstruc... |
OMIM:236730 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Proteinuria, H... |
OMIM:616026 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Bicuspid aortic valve, Hypospadias, Abnormal dental enamel morphology, Cryp... |
ORPHA:96169 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Bone-marrow foam cells, Fetal ascites, Low cholesterol esterification rate, Splenom... |
ORPHA:646 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Neutrophilia, Osteomyelitis, Skin rash, Elevated circulating C-reactive protein con... |
OMIM:612852 |
Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... |
OMIM:301000 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Ventricular septal defect, Hypospadias, Recurrent pneumonia, Atrial septal defec... |
OMIM:616449 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Fasciitis, Myositis, Skin rash, Elevated circulating C-reactive protein concentrati... |
ORPHA:32960 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, I... |
ORPHA:1454 |
Sotos Syndrome |
|
Ureteral duplication, Flexion contracture, Atrial septal defect, Vesicoureteral reflux, Chronic o... |
ORPHA:821 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Neoplasm of the thymus, Intrahepatic cholestasis, Abnorma... |
ORPHA:97261 |
Addison Disease |
|
Hyponatremia, Normocytic anemia, Premature ovarian insufficiency, Primary testicular failure, Hyp... |
ORPHA:85138 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h... |
OMIM:239850 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Inguinal hernia, Camptodactyly of finger, Thenar muscle atrophy, Heparan sulfate ex... |
OMIM:607015 |
Pachydermoperiostosis |
|
Hepatomegaly, Osteomyelitis, Acne, Seborrheic dermatitis, Splenomegaly, Arthritis, Eczematoid der... |
ORPHA:2796 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Hypospadias, Ventricular septal defect, Recurrent pneumonia, Lateral ventricle d... |
ORPHA:464738 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Epispadias, Agenesis of corpus callosum, Abnormal penis morphology, Mult... |
ORPHA:2461 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly, Lymphadenopathy, Hypocalcemia, O... |
ORPHA:667 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Hypertrophic cardio... |
ORPHA:508 |
Thyroid Hypoplasia |
|
Jaundice |
ORPHA:95720 |
Cog5-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Urinary incontinence, Camptodact... |
ORPHA:263487 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
Scheie Syndrome |
|
Splenomegaly, Hepatomegaly, Mucopolysacchariduria |
ORPHA:93474 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Facial hypotonia, Cryptorchidism, Micropenis, Abnormality of muscle size, Hydronephrosis |
ORPHA:364028 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Adipose tissue loss, Increased intraabdominal fat, Hyper... |
OMIM:151660 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Hepatomegaly, Cryptorchidism, Death in childhood, Micropenis,... |
OMIM:619005 |
Fanconi Anemia, Complementation Group F |
|
Vesicoureteral reflux, Renal hypoplasia, Anemia, Leukopenia, Bone marrow hypocellularity, Microph... |
OMIM:603467 |
Tetrasomy 9P |
|
Myositis, Biliary atresia, Micropenis, Patent foramen ovale, Amelogenesis imperfecta, Absent gall... |
ORPHA:3310 |
Biotinidase Deficiency |
|
Hepatomegaly, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Hyperamm... |
OMIM:253260 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur... |
ORPHA:2704 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Facial hypotonia, Elevated c... |
ORPHA:308552 |
Gracile Syndrome |
|
Death in early adulthood, Increased circulating ferritin concentration, Cholestasis, Renal Fancon... |
ORPHA:53693 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Tetrasomy 15Q26 |
|
Patent ductus arteriosus, Horseshoe kidney, Camptodactyly, Atrial septal defect, Hydronephrosis |
OMIM:614846 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Aplasia of the thymus, Facial palsy, Hydrocele testis, Unconjugated hyperbilirubinemia, Prolonged... |
OMIM:620186 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Calf muscle pseudohypertroph... |
ORPHA:79086 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Camptodactyly of finger, Hypoplasia of penis, Hydronephrosis, Cryptorchidism |
ORPHA:2083 |
Transketolase Deficiency |
|
Hepatomegaly, Increased level of ribose in urine, Ventricular septal defect, Seborrheic dermatiti... |
ORPHA:488618 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Elevated hepatic transaminase, Torticollis, Osteomyelitis, Hypospadias, Bicuspid aortic valve, Ve... |
OMIM:619475 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Abnormality of T cell physiology, Psoriasiform dermatitis, ... |
ORPHA:2237 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Decreased testicular size, Cryptorchidism, Hypogonadism, Camptodactyly, Micropenis, Joint contrac... |
OMIM:612513 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Increased circula... |
ORPHA:449427 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Abnormal heart valve morphology, Camptodactyly of finger, Abnor... |
ORPHA:1606 |
Tetraploidy |
|
Aplasia/Hypoplasia of the thymus, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:3305 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Cryptorchidism, Hydronephrosis |
OMIM:618060 |
Trisomy 20P |
|
Inguinal hernia, Hypospadias, Camptodactyly of finger, Abnormality of the kidney, Cryptorchidism,... |
ORPHA:261318 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Dysplastic corpus callosum, Recurrent pneumonia, Patent foramen ovale, Hydronephrosis |
OMIM:619179 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Elevated hemoglobin A1c, Hypoglycemia, Type I diabetes mellitus, D... |
OMIM:616113 |
9Q21.13 Microdeletion Syndrome |
|
Cryptorchidism, Hydronephrosis, Abnormal heart morphology |
ORPHA:531151 |
Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Dextrocardia, Ureteral agenesis, Congenital megaureter, Apla... |
ORPHA:2437 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Mitral valve prolapse, Abnormal heart morphology, Enuresis no... |
OMIM:615873 |
Prune Belly Syndrome |
|
Hydroureter, Cryptorchidism, Patent ductus arteriosus, Aplasia of the abdominal wall musculature,... |
OMIM:100100 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Abnormality of the ur... |
ORPHA:2552 |
Camurati-Engelmann Disease |
|
Hepatomegaly, Skeletal muscle atrophy, Facial palsy, Splenomegaly, Abnormal subcutaneous fat tiss... |
ORPHA:1328 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Limb joint contracture, Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Patent fo... |
OMIM:620327 |
Blau Syndrome |
|
Clear cell renal cell carcinoma, Pericarditis, Skin rash, Camptodactyly of finger, Facial palsy, ... |
ORPHA:90340 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Hypoglycemia, Pneumonia, Jaundice, Hyperkalemia, Macroorchidism |
ORPHA:90790 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Abnormality of the pancreas, Aplasia/Hypoplasia of the abdominal wall musculature, ... |
ORPHA:175 |
Mucopolysaccharidosis Type 6 |
|
Sinusitis, Abnormal heart valve morphology, Splenomegaly, Macroglossia, Mucopolysacchariduria, He... |
ORPHA:583 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo... |
ORPHA:103918 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Elevated circulating alpha-fetoprotein concentration, Patent ductus arteriosus, Hype... |
ORPHA:280633 |
Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Decreased beta-galactosidase activity, Sea-... |
OMIM:230600 |
Fryns Syndrome |
|
Omphalocele, Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Cryptorc... |
ORPHA:2059 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroglossia, Umbilical hernia, Prolonged neonatal jaundice, Macroorchidism, Hypercholesterolemia... |
ORPHA:90674 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Mesomelia-Synostoses Syndrome |
|
Umbilical hernia, Hydronephrosis |
ORPHA:2496 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, S... |
OMIM:266920 |
Polycythemia Vera |
|
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leukemia, Bruising... |
ORPHA:729 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Inguinal hernia, Adenoiditis, Heparan sulfate excretion in urine, Splenomegaly, Car... |
ORPHA:581 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Skeletal muscle atrophy, Limb joint contracture, Seborrheic dermatitis, Splenomegal... |
OMIM:301072 |
Isolated Right Ventricular Hypoplasia |
|
Cyanosis, Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ... |
ORPHA:439 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Hydron... |
ORPHA:457193 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Unilateral renal agenesis, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Flexion cont... |
OMIM:308050 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Macroglossia, Prolonged neonatal jaundice, Umbilical h... |
ORPHA:90673 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Hepatomegaly, Death in infancy, Cyanosis, Hypospadias, Skeletal m... |
OMIM:252010 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease... |
OMIM:162000 |
Endove Syndrome, Limb-Brain Type |
|
Recurrent urinary tract infections, Neurogenic bladder, Osteomyelitis, Umbilical hernia, Hydronep... |
OMIM:619218 |
Pancreatoblastoma |
|
Jaundice, Pancreatic calcification, Abnormal lymph node morphology |
ORPHA:677 |
Distal Deletion 12Q |
|
Late onset atopic dermatitis, Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabet... |
ORPHA:96149 |
Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Hepatocellular carcinoma, Enteroviral hepatitis, Cor pulmonal... |
OMIM:300755 |
Familial Tumoral Calcinosis |
|
Splenomegaly, Hepatomegaly, Nephrocalcinosis |
ORPHA:53715 |
Genitopatellar Syndrome |
|
Hip contracture, Multicystic kidney dysplasia, Cryptorchidism, Knee flexion contracture, Atrial s... |
ORPHA:85201 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Hepatomegaly, Death in infancy, Neonatal hypoglycemia, Crypto... |
OMIM:619004 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria,... |
OMIM:201450 |
Desmoid Tumor |
|
Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:873 |
Melnick-Needles Syndrome |
|
Vesicoureteral reflux, Abnormal cardiac septum morphology, Omphalocele, Hydronephrosis |
ORPHA:2484 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Neutropenia, Infectious encephalitis, ... |
ORPHA:73263 |
Intellectual Disability, Buenos-Aires Type |
|
Umbilical hernia, Abnormal cardiac septum morphology, Hydronephrosis |
ORPHA:3079 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Scarring alopecia of scalp, Flexion contracture, Erythroderma, Hydronephrosis, Neonatal hypoglycemia |
ORPHA:35173 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Arthrogryposis multiplex congenita, Hydronephrosis |
OMIM:618265 |
Trisomy 8P |
|
Multiple joint contractures, Abnormal atrioventricular connection, Cryptorchidism, Fetal pyelecta... |
ORPHA:264450 |
Opitz Gbbb Syndrome |
|
Omphalocele, Atrial septal defect, Enlarged ovaries, Inguinal hernia, Hypospadias, Ventricular se... |
ORPHA:2745 |
Chime Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, Pulmonary valve atresia, Erythema, Acute le... |
ORPHA:3474 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Decreased testicular size, Hydroureter, Ventricular septal defect, Distal urethr... |
OMIM:146510 |
Familial Aortic Dissection |
|
Patent ductus arteriosus, Cutis marmorata, Cardiomegaly |
ORPHA:229 |
Duane-Radial Ray Syndrome |
|
Atrial septal defect, Renal malrotation, Ventricular septal defect, Renal agenesis, Facial palsy,... |
OMIM:607323 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in childhood, Death in infancy, Cardiomegaly |
OMIM:613320 |
Raine Syndrome |
|
Death in infancy, Hydroureter, Elevated circulating alkaline phosphatase concentration, Hypophosp... |
OMIM:259775 |
Koolen-De Vries Syndrome |
|
Atrial septal defect, Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular sept... |
OMIM:610443 |
Hennekam Syndrome |
|
Camptodactyly of finger, Ectopic kidney, Pericardial effusion, Splenomegaly, Pulmonary lymphangie... |
ORPHA:2136 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Ventricular septal defect, Cryptorchidism, Patent ductus arterio... |
OMIM:300712 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hypercalcemia, Jaundice, Erythema, Extrahepatic cholestasis, Mu... |
ORPHA:913 |
Von Hippel-Lindau Disease |
|
Polycythemia |
ORPHA:892 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:306400 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia... |
OMIM:617022 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Atrial septal defect, Ureteral hypoplasia, Congenital diap... |
OMIM:614080 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia, Aspiration pneumonia |
ORPHA:95232 |
Schinzel-Giedion Syndrome |
|
Inguinal hernia, Myeloid leukemia, Hypospadias, Nephroblastoma, Streak ovary, Recurrent pneumonia... |
ORPHA:798 |
Hermansky-Pudlak Syndrome 10 |
|
Splenomegaly, Hepatomegaly, Neutropenia |
OMIM:617050 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cyanosis, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septa... |
ORPHA:1329 |
Frontometaphyseal Dysplasia 1 |
|
Skeletal muscle atrophy, Scapular winging, Hydroureter, Interphalangeal joint contracture of fing... |
OMIM:305620 |
Craniofaciofrontodigital Syndrome |
|
Atrial septal defect, Prominent superficial veins, Bicuspid aortic valve, Ventricular septal defe... |
ORPHA:363705 |
Eisenmenger Syndrome |
|
Hepatomegaly, Renal insufficiency, Cyanosis, Ventricular septal defect, Elevated circulating C-re... |
ORPHA:97214 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Cryptor... |
OMIM:618454 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Abnormal heart valve... |
ORPHA:77293 |
Lymphatic Malformation 7 |
|
Pericardial effusion, Atrial septal defect, Ascites, Anemia |
OMIM:617300 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
2P15P16.1 Microdeletion Syndrome |
|
Decreased testicular size, Inguinal hernia, Multicystic kidney dysplasia, Facial palsy, Camptodac... |
ORPHA:261349 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Atrial septal defect, Ureteral stenosis, Hypospadias, Hydroureter, Splenopancreatic fusion, Macro... |
OMIM:269150 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
Immunodeficiency 17 |
|
Death in infancy, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cel... |
OMIM:615607 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Omphalocele, Ventricular septal defect, Hypospadias, Complete atrioventricular ... |
OMIM:236680 |
1Q21.1 Microdeletion Syndrome |
|
Inguinal hernia, Cryptorchidism, Patent ductus arteriosus, Abnormal cardiac septum morphology, Ve... |
ORPHA:250989 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia |
OMIM:613986 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Elevated circulating creatine kinase c... |
ORPHA:268 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Tricuspid stenosis, Abnormality of the kidney, Patent ductu... |
ORPHA:391641 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Cryptorchidism, Hyposthenuria, Vesicoureteral reflux, Hypernatremia, Hydronep... |
OMIM:615926 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepati... |
OMIM:124000 |
Menkes Disease |
|
Inguinal hernia, Osteomyelitis, Hypoglycemia, Aplasia/Hypoplasia of the abdominal wall musculatur... |
ORPHA:565 |
Eec Syndrome |
|
Hypospadias, Abnormal dental enamel morphology, Renal hypoplasia/aplasia, Keratitis, Inflammatory... |
ORPHA:1896 |
Okamoto Syndrome |
|
Omphalocele, Ventricular septal defect, Urinary incontinence, Splenomegaly, Abnormal left ventric... |
ORPHA:2729 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes... |
ORPHA:79085 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Atypical scarring of skin, Premature graying of hai... |
ORPHA:1297 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Abnormal ... |
ORPHA:453499 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Mitral valve prolapse, Hila... |
OMIM:620233 |
Hyperlipoproteinemia, Type Id |
|
Splenomegaly, Hepatomegaly, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Ventricular septal defect, Abnorm... |
ORPHA:818 |
Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Hepatomegaly, Inguinal hernia, Ventricular septal defect, Splenomegaly, Patent ductu... |
OMIM:269860 |
Gabriele-De Vries Syndrome |
|
Facial hypotonia, Cryptorchidism, Lateral ventricle dilatation, Distal arthrogryposis, Ureteropel... |
OMIM:617557 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Nephroblastoma, Renal hypoplasia |
OMIM:612918 |
Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Hypospadias, Ventricular septal defect, Bilateral cryptorchidism, Cryptorchidis... |
OMIM:180849 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly, Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal c... |
OMIM:620306 |
Danon Disease |
|
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... |
OMIM:300257 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Pericarditis, Proteinuria, Skin rash, Orchitis, Splenomegaly, Peritonitis,... |
ORPHA:342 |
Vesicoureteral Reflux 3 |
|
Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Hydroureter, Grade III vesico... |
OMIM:613674 |
Toluene Embryopathy |
|
Cryptorchidism, Hydronephrosis, Abnormal localization of kidney |
ORPHA:1920 |
22Q11.2 Deletion Syndrome |
|
Impaired T cell function, Hypoplasia of the thymus, Hypocalcemia, Atrial septal defect, Vesicoure... |
ORPHA:567 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia/aplasia, Vesico... |
ORPHA:107 |
7Q11.23 Microduplication Syndrome |
|
Inguinal hernia, Hypospadias, Ventricular septal defect, Unilateral renal agenesis, Congenital di... |
ORPHA:96121 |
Cardiofaciocutaneous Syndrome |
|
Abnormal heart valve morphology, Cryptorchidism, Excessive wrinkled skin, Pulmonic stenosis, Atri... |
ORPHA:1340 |
Mosaic Trisomy 8 |
|
Decreased testicular size, Camptodactyly of finger, Cryptorchidism, Vesicoureteral reflux, Arthro... |
ORPHA:96061 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Cardiomegaly, Patent ductus ar... |
ORPHA:3427 |
Thakker-Donnai Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Transposition of the great arteries, ... |
ORPHA:1780 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Mitral valve calcification, Poor wound healing, Abnormality of the spleen, Thromboc... |
ORPHA:2072 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Congenital muscular torticollis, Truncus arteriosus, ... |
ORPHA:2538 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Facial paralysis, Elevated circulating creatine kinase concentration |
OMIM:175780 |
15Q Overgrowth Syndrome |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ureterovesical stenosis, Abn... |
ORPHA:314585 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, Proteinu... |
ORPHA:63 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Hydronephrosis, Limb hypertonia |
ORPHA:488613 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Increased hepatic glycogen content, 3-Methylglutaconic aciduria, Cardiomegaly |
OMIM:619259 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Omphalocele, Inguinal hernia, Diastasis recti, Flexion contracture, Macroglossia, Camptodactyly, ... |
ORPHA:254528 |
Occipital Horn Syndrome |
|
Inguinal hernia, Recurrent urinary tract infections, Femoral hernia, Scarring, Hiatus hernia, Jau... |
ORPHA:198 |
Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Umbilical hernia, Hydronephrosis |
OMIM:619217 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Facial hypotonia, Elevated c... |
ORPHA:365 |
Autosomal Recessive Robinow Syndrome |
|
Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defect, A... |
ORPHA:1507 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Cryptorchidism, Micropenis, Ventricular septal defect, Hydronephrosis |
OMIM:617798 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Ventricular septal defect, Hep... |
ORPHA:436252 |
Micro Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney |
ORPHA:2510 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Camptodactyly of finger, Renal hypoplasia/aplasia, Cryptorchidism, Hydr... |
ORPHA:568 |
Genetic Transient Congenital Hypothyroidism |
|
Macroglossia, Umbilical hernia, Increased circulating thyroglobulin level, Prolonged neonatal jau... |
ORPHA:226316 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Elevated circulating alkaline phosphatase concentration, Hydronephrosis, Telangiectasia |
ORPHA:247262 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Impotence, Urinary incontinence, Cardiomegaly |
OMIM:105210 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Prolonged neonatal jaundice |
ORPHA:99832 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Hydronephrosis, Erythroderma |
OMIM:302960 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Flexion contracture of finger, Hypospadias, Ventricular septal defect, Unilateral renal agenesis,... |
ORPHA:464311 |
Charge Syndrome |
|
Secundum atrial septal defect, Hypocalcemia, Atrial septal defect, Micropenis, Aplasia/Hypoplasia... |
OMIM:214800 |
Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Glandular hypospad... |
ORPHA:1358 |
Wiedemann-Rautenstrauch Syndrome |
|
Congenital malformation of the left heart, Wide penis, Vesicoureteral reflux, Dilatation of renal... |
ORPHA:3455 |
Trisomy 18 |
|
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,... |
ORPHA:3380 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Inguinal hernia, Multiple joint contractures, Cardiomegaly, Cryptorchidism, Low alk... |
OMIM:618143 |
Baller-Gerold Syndrome |
|
Abnormality of the ureter, Abnormal localization of kidney, Abnormal cardiac septum morphology, V... |
ORPHA:1225 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Atrial septal defect, Recurrent urinary tract infections, Hypospadias, Bicus... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Atrial septal defect, Recurrent urinary tract infections, Hypospadias, Bicus... |
ORPHA:363958 |
Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly |
OMIM:601979 |
Cardiac Valvular Dysplasia 1 |
|
Inguinal hernia, Hydroureter, Ventricular septal defect, Left atrial enlargement, Tricuspid steno... |
OMIM:212093 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Hypospadias, Ventricular septal defect, Unilateral renal agenesis, E... |
ORPHA:464306 |
Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Ventricular septal defect, Foot joint contracture, Cryptorchidism, Mitral valve ... |
ORPHA:444072 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Atrial septal defect, Renal dysplasia, Patent ductus arteriosus, Hydronephrosis |
OMIM:300968 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/apl... |
ORPHA:2473 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Inguinal hernia, Cryptorchidism, Cutaneous photosensitivity, Vesicoureteral reflux, Micropenis, P... |
OMIM:618653 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Perica... |
OMIM:181000 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Atrial septal defect, Hypoplasia of the bladder, Hydroureter, Bicuspid aortic valve, Valvular pul... |
OMIM:300707 |
Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Abnormal heart valve morphology, Hypospadias, Camptodactyly of finger, Ureteral obst... |
ORPHA:90652 |
Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Cong... |
ORPHA:2322 |
Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Ventricular septal defect, Horseshoe kidney, Camptodactyly, Aortic valve steno... |
OMIM:272950 |
Apert Syndrome |
|
Overriding aorta, Ventricular septal defect, Acne, Cryptorchidism, Chronic otitis media, Agenesis... |
OMIM:101200 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Hypogonadotropic hypogonadism, Hypoglycemia, Macroglossia, Prolonged neonatal jaundice, Umbilical... |
ORPHA:226307 |
Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... |
ORPHA:254704 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Elevated hepatic transaminase, Diabetes mellitus, Cryptorchidism, Jaundice, Hypogonadism, Moderat... |
OMIM:614231 |
Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Hydronephrosis |
ORPHA:2839 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Recurrent skin infections, Scarring, Diastasis recti, Hiatus hernia, Cryptorchidism, Fragile skin... |
OMIM:601776 |
Frontometaphyseal Dysplasia |
|
Interphalangeal joint contracture of finger, Camptodactyly of finger, Ureteral obstruction, Hypop... |
ORPHA:1826 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cyanosis, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Renal cyst, Agenes... |
ORPHA:137675 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... |
OMIM:609057 |
Congenital Myopathy 17 |
|
Renal hypoplasia, Myopathy, Distal arthrogryposis, Diaphragmatic eventration, Ureteropelvic junct... |
OMIM:618975 |
Truncus Arteriosus |
|
Cyanosis, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Patent ductus... |
ORPHA:3384 |
Alzheimer Disease, Familial, 1 |
|
Neurofibrillary tangles, Decreased circulating GABA concentration |
OMIM:104300 |
Orofaciodigital Syndrome Type 1 |
|
Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Ab... |
ORPHA:2750 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C... |
ORPHA:904 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Omphalocele, Hypoplasia of the bladder, Renal agenesis, Camptodactyly of finger... |
OMIM:249000 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Patent ductus arteriosus, Mitral valve prolapse, Umbilical hernia, Ureteral triplication, Hydrone... |
OMIM:104350 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Type 1 mu... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Type 1 mu... |
ORPHA:352665 |
Chromosome 17Q12 Deletion Syndrome |
|
Elevated hepatic transaminase, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent... |
OMIM:614527 |
Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s... |
ORPHA:79500 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Ab... |
ORPHA:2463 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Renal dysplasia, Recurrent skin infections, Urinary bladder inflammation, Hem... |
ORPHA:79403 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... |
ORPHA:75565 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Polycythemia, Anemia |
OMIM:600376 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Unilateral renal atrophy, Torticollis, Cryptorchidism, Pyelonephritis, Oligozoospermia, Keloids, ... |
OMIM:314300 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Skeletal muscle atrophy, Dysuria, Upper limb muscle weakness, Distal amyotrophy, Hydronephrosis |
ORPHA:101000 |
3Mc Syndrome 1 |
|
Omphalocele, Conjunctival telangiectasia, Ventricular septal defect, Diastasis recti, Patent duct... |
OMIM:257920 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Chronic pan... |
ORPHA:98908 |
Occipital Horn Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ur... |
OMIM:304150 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Vesicovaginal fistula, Enamel hypoplasia, Lateral ventricle dilatation, Atrial septal defect, Ure... |
OMIM:300896 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Bohring-Opitz Syndrome |
|
Facial hypotonia, Nephroblastoma, Cardiomegaly, Bilateral wrist flexion contracture, Congenital c... |
ORPHA:97297 |
Robinow Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Cryptorchidism, Abnormal heart morpholog... |
ORPHA:97360 |
Melnick-Needles Syndrome |
|
Omphalocele, Ureteral stenosis, Mitral valve prolapse, Stillbirth, Tricuspid valve prolapse, Recu... |
OMIM:309350 |
Citrullinemia, Classic |
|
Hepatomegaly, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis, Elevat... |
OMIM:215700 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly |
OMIM:208000 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr... |
ORPHA:1677 |
Pfeiffer Syndrome Type 3 |
|
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney |
ORPHA:93260 |
Thyroid Ectopia |
|
Jaundice |
ORPHA:95712 |
Viss Syndrome |
|
Chronic gastritis, Prominent superficial blood vessels, Right ventricular dilatation, Increased c... |
OMIM:619472 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Inguinal hernia, Cryptorchidism, Nephrolithiasis, Nephrocalcinosis, Macroglossia, Umbilical herni... |
OMIM:268310 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Bardet-Biedl Syndrome 12 |
|
Hydroureter, Abdominal mass, Cystic renal dysplasia, Hypogonadism, Hydronephrosis |
OMIM:615989 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux... |
ORPHA:261537 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
ORPHA:412 |
Cerebrotendinous Xanthomatosis |
|
Abnormal circulating enzyme concentration or activity, Prematurely aged appearance, Abnormal atri... |
ORPHA:909 |
Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux... |
ORPHA:2152 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:2995 |
Arboleda-Tham Syndrome |
|
Recurrent urinary tract infections, Ventricular septal defect, Secundum atrial septal defect, Chr... |
OMIM:616268 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Atrial septal defect, Recurrent urinary tract infections, Hypospadias, Bicuspid aortic valve, Ven... |
ORPHA:353281 |
Cystic Fibrosis |
|
Male infertility, Hepatomegaly, Recurrent pneumonia, Cor pulmonale, Biliary cirrhosis, Hypercalci... |
OMIM:219700 |
Nail-Patella Syndrome |
|
Renal insufficiency, Decreased muscle mass, Proteinuria, Abnormality of the kidney, Contracture o... |
ORPHA:2614 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Fragile skin, Cardiomegaly |
ORPHA:158687 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Portal hypertension, Megacystis, Hepatic failure, Hydronephrosis |
OMIM:619431 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Inguinal hernia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flex... |
OMIM:245600 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Otitis media, Atrial septal defect, Vesicoureteral reflux, Patent foramen ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Otitis media, Atrial septal defect, Vesicoureteral reflux, Patent foramen ... |
ORPHA:353277 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Ventricular septal defect, Maternal diabetes, Cryptorchidism... |
ORPHA:49 |
Cousin Syndrome |
|
Joint contracture of the hand, Wrist flexion contracture, Hydronephrosis, Camptodactyly |
OMIM:260660 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux... |
ORPHA:261552 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Hypogonadotropic hypo... |
OMIM:604292 |
Au-Kline Syndrome |
|
Cryptorchidism, Chronic kidney disease, Dilatation of the renal pelvis, Vesicoureteral reflux, Hy... |
OMIM:616580 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis |
OMIM:619362 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Polycythemia, Anemia |
OMIM:187300 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Splenomegaly, Hepatomegaly, Anhidrotic ectodermal dysplasia |
OMIM:612132 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Episcleritis, Inguinal hernia, Hydroureter, Abnormal dental enamel morphology, Campt... |
ORPHA:2273 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Renal dysplasia, Duplicated collecting system, Inguinal hernia, Hydroureter, Renal agenesis, Hypo... |
OMIM:129900 |
Absence Of The Pulmonary Artery |
|
Cyanosis, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morphology, Abnormal cardiac sep... |
ORPHA:980 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi... |
ORPHA:105 |
Congenital Tracheomalacia |
|
Cyanosis, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pu... |
ORPHA:95430 |
Campomelic Dysplasia |
|
Hydronephrosis |
ORPHA:140 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Macroglossia, Umbilical hernia, Increased circulating thyroglobulin level, Hyperbilirubinemia |
OMIM:218700 |
White-Kernohan Syndrome |
|
Hydroureter, Dysplastic corpus callosum, Horseshoe kidney, Recurrent otitis media, Hydronephrosis |
OMIM:619426 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Neurogenic bladder, Ureteropelvic junction obstruction, Lower limb muscle weakness, Hydronephrosi... |
OMIM:616973 |
Coffin-Siris Syndrome 1 |
|
Inguinal hernia, Hydroureter, Hypospadias, Ventricular septal defect, Congenital diaphragmatic he... |
OMIM:135900 |
Ctcf-Related Neurodevelopmental Disorder |
|
Inguinal hernia, Phimosis, Cryptorchidism, Patent ductus arteriosus, Joint contracture of the 5th... |
ORPHA:363611 |
Al-Gazali Syndrome |
|
Recurrent pneumonia, Wrist flexion contracture, Hydronephrosis |
OMIM:609465 |
Gabriele-De Vries Syndrome |
|
Distal lower limb amyotrophy, Facial hypotonia, Cryptorchidism, Ebstein anomaly of the tricuspid ... |
ORPHA:506358 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Patent ductus arteriosus, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Lip telangiectasia, ... |
ORPHA:79280 |
Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Cryptorchidism, Dilatation of the renal pelvis, Stage 5 chronic kidn... |
ORPHA:2044 |
Charge Syndrome |
|
Hypogonadotropic hypogonadism, Facial palsy, Cryptorchidism, Patent ductus arteriosus, Horseshoe ... |
ORPHA:138 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Hydronephrosis, Periodontitis, Type I diabetes mellitus, Moderate albuminuria, Dentinogenesis imp... |
OMIM:619269 |
Floating-Harbor Syndrome |
|
Inguinal hernia, Hypospadias, Cryptorchidism, Glandular hypospadias, Atopic dermatitis, Nephrocal... |
OMIM:136140 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Visceral Myopathy 1 |
|
Megacystis, Hydronephrosis, Urinary retention, Vesicoureteral reflux, Pancreatitis |
OMIM:155310 |
15q26 overgrowth syndrome |
|
Renal agenesis, Camptodactyly of finger, Abnormality of the kidney, Horseshoe kidney, Duplication... |
DECIPHER:81 |
Monosomy 22Q13.3 |
|
Recurrent skin infections, Hydronephrosis, Vesicoureteral reflux, Umbilical hernia, Recurrent pye... |
ORPHA:48652 |
Plasminogen Deficiency, Type I |
|
Decreased level of plasminogen, Nephrolithiasis, Conjunctivitis, Periodontitis, Nephritis |
OMIM:217090 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cutis marmorata, Cardiomegaly, Patent ductus arteriosus, Bruising suscepti... |
ORPHA:91387 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Decreased testicular size, Multicystic kidney dysplasia, Elevated circulating creatine kinase con... |
OMIM:615287 |
Peters-Plus Syndrome |
|
Ureteral duplication, Hypospadias, Bilobate gallbladder, Ventricular septal defect, Diastasis rec... |
OMIM:261540 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Inguinal hernia, Hypospadias, Renal hypoplasi... |
ORPHA:709 |
Focal Dermal Hypoplasia |
|
Omphalocele, Ureteral duplication, Inguinal hernia, Diastasis recti, Congenital diaphragmatic her... |
OMIM:305600 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal renal morphology, Abnorm... |
ORPHA:363700 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Cyanosis, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Cardiome... |
ORPHA:99125 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Hypospadias, Urinary incontinence, Ventricular septal defect, Renal agenesis,... |
OMIM:619522 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hepatic arteriovenous malformation, Anemia, Mitral valve prolapse |
OMIM:175050 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Neurofibrillary tangles, Deposits immunoreactive to beta-amyloid protein |
ORPHA:1020 |
Campomelic Dysplasia |
|
Contracture of the distal interphalangeal joint of the fingers, Hypospadias, Hydronephrosis, Abno... |
OMIM:114290 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Hyperphosphaturia, Cyanosis, Elevated alkaline phosphatase of bone origi... |
ORPHA:51608 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Dysplasti... |
OMIM:300967 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Ventricular septal defect, Eczema, Recurrent pneumonia, Hypocalcemia, Umbilical hernia, Hydroneph... |
OMIM:620330 |
Oeis Complex |
|
Omphalocele, Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal... |
OMIM:258040 |
Alzheimer Disease 9, Susceptibility To |
|
Neurofibrillary tangles |
OMIM:608907 |
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology |
|
Neurofibrillary tangles |
OMIM:605055 |
Vater/Vacterl Association |
|
Renal dysplasia, Hypospadias, Ventricular septal defect, Renal agenesis, Ectopic kidney, Patent d... |
OMIM:192350 |
Early-onset Alzheimer disease with cerebral amyloid angiopathy |
|
Neurofibrillary tangles |
DECIPHER:48 |
Alzheimer Disease 2 |
|
Neurofibrillary tangles |
OMIM:104310 |
Gerstmann-Straussler Disease |
|
Neurofibrillary tangles, Lower limb muscle weakness |
OMIM:137440 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Neurofibrillary tangles |
OMIM:606688 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Inguinal hernia, Hydronephrosis |
OMIM:271520 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Neurofibrillary tangles |
OMIM:619132 |
Alzheimer Disease 3 |
|
Neurofibrillary tangles |
OMIM:607822 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Neurofibrillary tangles, Lateral ventricle dilatation |
OMIM:607485 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Cardiac myxoma, Renal hypoplasia, Pyelonephritis,... |
OMIM:181270 |
Hand-Foot-Genital Syndrome |
|
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Small thenar eminence, Chordee, Ves... |
OMIM:140000 |
Genitopatellar Syndrome |
|
Hip contracture, Multicystic kidney dysplasia, Ventricular septal defect, Cryptorchidism, Knee fl... |
OMIM:606170 |
Yunis-Varon Syndrome |
|
Hypospadias, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Renovascular hypertension, ... |
ORPHA:3472 |
Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... |
ORPHA:573278 |
Otopalatodigital Syndrome, Type Ii |
|
Omphalocele, Hypospadias, Elbow contracture, Cryptorchidism, Stillbirth, Atrial septal defect, Um... |
OMIM:304120 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Omphalocele, Hypoplasia of penis, Urethrovaginal fistula, Congenital hepatic fibrosis, Cryptorchi... |
ORPHA:93271 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Inguinal hernia, Cryptorchidism, Macroglossia, Umbilical hernia, Micropenis, Hydronephrosis, Rena... |
OMIM:180700 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Cyst of the ductus choledochus, Patent ductus arteriosus, Hydronephrosis, Cardiomyopathy, Atrial ... |
ORPHA:480880 |
Lacrimoauriculodentodigital Syndrome |
|
Abnormal dental enamel morphology, Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, Ke... |
ORPHA:2363 |
Knobloch Syndrome 1 |
|
Duplicated collecting system, Patent ductus arteriosus, Bifid ureter, Hydronephrosis, Renal dupli... |
OMIM:267750 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Neurofibrillary tangles |
OMIM:616840 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Cryptorchidism, A... |
ORPHA:2636 |
Progressive Non-Fluent Aphasia |
|
Neurofibrillary tangles |
ORPHA:100070 |
Holoprosencephaly 3 |
|
Hydronephrosis |
OMIM:142945 |
Adult-Onset Dystonia-Parkinsonism |
|
Neurofibrillary tangles, Abnormal circulating creatine kinase concentration, Hypomimic face |
ORPHA:199351 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Cryptorchidism, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephrosis |
OMIM:236700 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Neurofibrillary tangles |
OMIM:610217 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Inguinal hernia, Recurrent urinary tract infections, Dilatation of the ventricular cavity, Recurr... |
ORPHA:90349 |
Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
OMIM:600383 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
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Anuria, Peritonitis, Patent ductus arteriosus, Megacystis, Pyelonephritis, Fetal megacystis, Rena... |
OMIM:619351 |
Osteogenesis Imperfecta, Type Vii |
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Death in infancy, Dentinogenesis imperfecta, Hydronephrosis |
OMIM:610682 |
Autosomal Dominant Cutis Laxa |
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Inguinal hernia, Prematurely aged appearance, Unilateral renal agenesis, Dilatation of the ventri... |
ORPHA:90348 |
Scalp-Ear-Nipple Syndrome |
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Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... |
ORPHA:2036 |
Alzheimer Disease 4 |
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Neurofibrillary tangles, Cerebral amyloid angiopathy |
OMIM:606889 |
Homozygous Familial Hypercholesterolemia |
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Hyperlipidemia, Tendon xanthomatosis, Renal steatosis, Increased LDL cholesterol concentration, A... |
ORPHA:391665 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
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Neurofibrillary tangles, Cerebral amyloid angiopathy |
OMIM:117300 |
Supranuclear Palsy, Progressive, 2 |
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Neurofibrillary tangles, Retrocollis |
OMIM:609454 |
Supranuclear Palsy, Progressive, 1 |
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Neurofibrillary tangles, Retrocollis |
OMIM:601104 |
Singleton-Merten Syndrome 1 |
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Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |