| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
| Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular base... |
OMIM:619155 |
| Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
| Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
| Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... |
OMIM:615573 |
| Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
| Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... |
OMIM:619263 |
| Nephrotic Syndrome, Type 23 |
|
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... |
OMIM:619201 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
| Nephrotic Syndrome, Type 2 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:600995 |
| Nephrotic Syndrome, Type 17 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:618176 |
| Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma... |
OMIM:256300 |
| Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
| Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
| Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
| Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
| Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
| Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
| Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
| Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
| Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
| Nephrotic Syndrome, Type 21 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... |
OMIM:618594 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... |
OMIM:308990 |
| Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... |
OMIM:618963 |
| Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... |
OMIM:620049 |
| Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
| C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
| Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
| Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria |
OMIM:607832 |
| Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616893 |
| Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
| Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
| Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
| Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus |
OMIM:182690 |
| Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome |
OMIM:616220 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... |
ORPHA:766 |
| Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
| Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:616730 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... |
ORPHA:656 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... |
ORPHA:567548 |
| Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... |
ORPHA:54370 |
| Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... |
OMIM:616818 |
| Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency |
OMIM:249660 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... |
OMIM:615008 |
| Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Elevated circula... |
OMIM:614455 |
| Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes ... |
OMIM:612526 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Elbow fle... |
OMIM:604416 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent... |
OMIM:616860 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:613944 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, J... |
OMIM:603552 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Abnormal ci... |
OMIM:608709 |
| Complement Factor H Deficiency |
|
Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g... |
OMIM:609814 |
| Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
| Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g... |
ORPHA:84090 |
| Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ... |
OMIM:209950 |
| C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
| Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... |
OMIM:617609 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... |
OMIM:619868 |
| Hematuria, Benign Familial, 2 |
|
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology |
OMIM:620320 |
| Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:607616 |
| Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:2613 |
| Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
| Oculorenocerebellar Syndrome |
|
Glomerular sclerosis, Nephropathy |
OMIM:257970 |
| Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... |
ORPHA:398063 |
| Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Stage... |
OMIM:617575 |
| Hematuria, Benign Familial, 1 |
|
Hematuria, Thin glomerular basement membrane |
OMIM:141200 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... |
OMIM:617056 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Renal insufficie... |
OMIM:245900 |
| Hydroxyprolinemia |
|
Hydroxyprolinemia, Microscopic hematuria |
OMIM:237000 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:613913 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hypertriglyceridemia, Hepatomegaly |
OMIM:619175 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin co... |
OMIM:603553 |
| Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... |
OMIM:614377 |
| Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Renal insufficiency, Hypercalcemia, Anemia, Ascites, Thrombocytopenia |
ORPHA:2123 |
| Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia, Chorioretinal coloboma |
ORPHA:1116 |
| Hyperprolinemia Type 1 |
|
Nephropathy, Hyperprolinemia, Proteinuria, Prolinuria |
ORPHA:419 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
| Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:618348 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... |
ORPHA:228302 |
| Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
| Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Increased... |
OMIM:232700 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... |
ORPHA:94088 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia |
OMIM:207731 |
| Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... |
OMIM:617730 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:161950 |
| Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... |
OMIM:615862 |
| Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... |
OMIM:618913 |
| Lymphangiectasia, Intestinal |
|
Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia |
OMIM:152800 |
| Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
| Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... |
OMIM:226990 |
| Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... |
ORPHA:1652 |
| Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Cataract, Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5... |
OMIM:614376 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
| Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Intestinal lymphangiectasi... |
OMIM:226300 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
| Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Proteinuria, Elevated circulating C-reactive protein concentratio... |
OMIM:614034 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia |
OMIM:619398 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
| Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
| Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Abnormal lymphatic vessel morphology, Reduced proportion of CD4+ effector me... |
ORPHA:90362 |
| Galloway-Mowat Syndrome 6 |
|
Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Decreased b... |
OMIM:618347 |
| Immunodeficiency 43 |
|
Lung abscess, Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemi... |
OMIM:241600 |
| Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... |
OMIM:603860 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Increased circulating ferrit... |
OMIM:616050 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo... |
OMIM:617780 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa... |
ORPHA:158061 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Hypoglycemia, Elevated circulating creatinine concentration, Increase... |
OMIM:617872 |
| Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Renal insufficiency, Proteinuria, Hypercalcemia, Anemia |
ORPHA:2668 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| Rhabdoid Tumor |
|
Hypercalcemia, Lymphadenopathy, Hematuria, Anemia, Neoplasm of the liver, Thrombocytopenia |
ORPHA:69077 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... |
OMIM:308240 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Hypomag... |
OMIM:613845 |
| Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... |
ORPHA:507 |
| Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... |
OMIM:613496 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne... |
OMIM:300908 |
| Galactosemia I |
|
Increased level of galactitol in plasma, Albuminuria, Aminoaciduria, Galactosuria, Increased leve... |
OMIM:230400 |
| Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
| Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
| Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
| Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:617731 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis |
OMIM:314000 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
| Atypical Hemolytic Uremic Syndrome |
|
Hematuria, Acute kidney injury, Proteinuria |
ORPHA:2134 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612926 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
| Cryofibrinogenemia, Familial Primary |
|
Hematuria, Transient nephrotic syndrome |
OMIM:123540 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... |
OMIM:301006 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P... |
OMIM:618398 |
| Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Lesch-Nyhan Syndrome |
|
Hematuria, Renal insufficiency, Hyperuricemia |
ORPHA:510 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612924 |
| Papular Xanthoma |
|
Hyperlipidemia, Histiocytosis |
ORPHA:158008 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocyte foot proces... |
OMIM:617006 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
| Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
| Blue Diaper Syndrome |
|
Hypercalcemia, Increased proinsulin:insulin ratio, Nephrocalcinosis, Blue urine, Recurrent hypogl... |
ORPHA:94086 |
| Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul... |
OMIM:300635 |
| Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
| Dengue Fever |
|
Hepatomegaly, Leukopenia, Ascites, Hypoproteinemia, Thrombocytopenia |
ORPHA:99828 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia |
OMIM:144300 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... |
OMIM:616828 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... |
OMIM:610947 |
| Hypouricemia, Renal, 1 |
|
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... |
OMIM:220150 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Increased LDL ... |
OMIM:615703 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia |
ORPHA:100025 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Cataract, Hypoalbuminemia, Microcytic anemia |
OMIM:618805 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic steatosis |
OMIM:619013 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
| Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Proteinuria, Hematuria, Decreased serum creatinine, Acute kidney injury |
ORPHA:54057 |
| Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
| Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
| Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... |
OMIM:123550 |
| Blue Diaper Syndrome |
|
Nephrocalcinosis, Abnormal circulating tryptophan concentration, Abnormal abdomen morphology, Hyp... |
OMIM:211000 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus |
OMIM:608320 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
| Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Hemolytic anemia, Decreased HDL cholester... |
ORPHA:650 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... |
OMIM:608600 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating... |
OMIM:620282 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Failure to thrive, Tubulointerstitial fibrosis |
OMIM:263000 |
| Analbuminemia |
|
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... |
OMIM:616000 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
| Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia |
ORPHA:2494 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... |
ORPHA:567546 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... |
OMIM:601198 |
| Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatic stea... |
ORPHA:247585 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
| Preeclampsia |
|
Increased body mass index, Proteinuria, Abnormality of the kidney, Small for gestational age, Chr... |
ORPHA:275555 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
| Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated circulating creatine kinase conce... |
OMIM:610717 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... |
OMIM:235400 |
| Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Hypouricemia, Xanthin... |
ORPHA:3467 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... |
ORPHA:158048 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
| Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Thrombocytopenia, ... |
ORPHA:64743 |
| Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... |
OMIM:136120 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Leukocytosis, Lym... |
OMIM:615895 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
| Diarrhea 13 |
|
Hepatic steatosis, Recurrent hypoglycemia, Hypoalbuminemia |
OMIM:620357 |
| Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El... |
OMIM:210250 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Hypophosphatasia |
|
Hypercalcemia, Anemia |
ORPHA:436 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Renal insufficiency, Neonatal insulin-dependent diabetes mellitus, Ja... |
ORPHA:1667 |
| Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology |
OMIM:602114 |
| Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Diabetes mellitus, Hypospadias, Abnormality of the pancreas, Hypoproteinemia... |
ORPHA:2315 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
| Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
| Angioma, Hereditary Neurocutaneous |
|
Hematuria |
OMIM:106070 |
| Hyperlysinemia, Type I |
|
Hyperlysinemia, Hyperlysinuria, Anemia, Ectopia lentis |
OMIM:238700 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
| Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:2070 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:604367 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
| Lipase Deficiency, Combined |
|
Pancreatitis, Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus |
OMIM:246650 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... |
ORPHA:98870 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... |
OMIM:615558 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia |
ORPHA:75234 |
| Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:616629 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Congenital Analbuminemia |
|
Lipodystrophy, Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, H... |
ORPHA:86816 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... |
ORPHA:540 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... |
ORPHA:86839 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp... |
ORPHA:79233 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
| Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Increased mean corpuscular hemoglobin conc... |
ORPHA:90041 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Hematuria, Increased mean corpuscular... |
OMIM:617021 |
| Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... |
OMIM:616963 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Decreased hepatic echogenicity, Hypoalbuminemia... |
OMIM:613752 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
| Amyloidosis, Familial Visceral |
|
Hematuria, Nephrotic syndrome, Nephropathy, Proteinuria |
OMIM:105200 |
| Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate |
OMIM:242530 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormal lymph node morphology |
ORPHA:33111 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
| Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... |
OMIM:248250 |
| Acquired Partial Lipodystrophy |
|
Glomerulopathy, Microscopic hematuria, Proteinuria |
ORPHA:79087 |
| Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst |
OMIM:611773 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule... |
ORPHA:839 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Elevated circulating creatinine concentration, Cholestasis, Anemia, Hypoalbuminemia... |
OMIM:608104 |
| Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Inguinal hernia, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasi... |
OMIM:235255 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr... |
OMIM:620211 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administration |
OMIM:603233 |
| Cystinuria |
|
Hematuria, Hyperuricemia, Renal insufficiency, Nephrolithiasis |
ORPHA:214 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Hypercalciuri... |
OMIM:239200 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Hypoalbuminemia, Proteinuria |
OMIM:614652 |
| Chédiak-Higashi Syndrome |
|
Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Increased circul... |
ORPHA:167 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Jaundice, Schistocytos... |
OMIM:274150 |
| Aapoaiv Amyloidosis |
|
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem... |
ORPHA:439232 |
| Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Abnormality of thrombocytes, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia |
ORPHA:172 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... |
ORPHA:71275 |
| Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
| Galloway-Mowat Syndrome 9 |
|
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:619603 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Renal dysplasia, Elevated circulating creatinine concentration, Abnormal renal corticomedullary d... |
OMIM:616733 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures |
ORPHA:2239 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... |
OMIM:616516 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
| Nephrotic Syndrome, Type 10 |
|
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... |
OMIM:615861 |
| Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:278000 |
| Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Proteinuria, Elevated circulating creatine kinase concentration, Urinary incontinen... |
ORPHA:94093 |
| Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Inguinal hernia, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymphangiecta... |
ORPHA:1655 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis |
OMIM:619428 |
| Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
| Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... |
OMIM:617729 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphology, Hyperca... |
ORPHA:251004 |
| Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Fetal ascites, Thrombocytopenia, Leukocytosis, Hepatitis, Hyperam... |
ORPHA:292 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus, Increased adipose tissue |
ORPHA:71529 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
| Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... |
ORPHA:824 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... |
ORPHA:276621 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... |
ORPHA:228308 |
| Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... |
ORPHA:91547 |
| Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
ORPHA:347 |
| Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Neph... |
ORPHA:29073 |
| Small Cell Carcinoma Of The Bladder |
|
Hematuria, Hypercalcemia, Recurrent urinary tract infections, Dysuria |
ORPHA:284400 |
| Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ... |
ORPHA:2260 |
| Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
| Anti-Glomerular Basement Membrane Disease |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:375 |
| Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio... |
ORPHA:94090 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalonic aciduria, T... |
OMIM:251000 |
| Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Hyperkalemia, Renal hypoplasia, Tubulointers... |
OMIM:617595 |
| Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... |
OMIM:237800 |
| Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotriglyceridemia, Hypoc... |
OMIM:246700 |
| Glucose-Galactose Malabsorption |
|
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H... |
ORPHA:35710 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Nephrot... |
OMIM:607426 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... |
OMIM:613877 |
| Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
| Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Cataract, Proteinuria, Recurrent skin infecti... |
ORPHA:33001 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... |
ORPHA:3202 |
| Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
| Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, ... |
ORPHA:97362 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Increased... |
OMIM:618620 |
| Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Hematuria, Nephropathy, Nephrolithiasis |
ORPHA:2196 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Portal hyperten... |
OMIM:251880 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
| Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
| Autoimmune Hypoparathyroidism |
|
Calcium nephrolithiasis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:36913 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E... |
OMIM:619658 |
| Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Hypertriglyceridemia |
OMIM:177000 |
| Hypophosphatasia, Infantile |
|
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Hypercalciuria, Nephr... |
OMIM:241500 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic steatosis |
ORPHA:436182 |
| Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... |
ORPHA:99845 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
| Glycogen Storage Disease Iv |
|
Failure to thrive, Tubulointerstitial fibrosis |
OMIM:232500 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Increased circulating free fatt... |
ORPHA:26793 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
| Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Paratracheal lymph... |
OMIM:615934 |
| Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Di... |
ORPHA:79083 |
| Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop... |
OMIM:300555 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Diabetes mellitus, Decreased mean corpuscular hemoglobin concentrat... |
ORPHA:231226 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyper... |
OMIM:620366 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Tubulointerstitial nephritis, Proteinuria |
OMIM:616901 |
| Preeclampsia/Eclampsia 1 |
|
Proteinuria |
OMIM:189800 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria |
OMIM:120433 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... |
OMIM:619313 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Hypoglycemia, Leukocytosis, Hyperammonemia, Hyperuricemia, Thrombocytosi... |
ORPHA:134 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Macrocytic anemia, Hypogly... |
ORPHA:199299 |
| Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hyperna... |
ORPHA:529808 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Hyperbilirubinemia, Fava bean-induced hemolytic anemia |
OMIM:618660 |
| Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hyperna... |
ORPHA:529799 |
| Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
| Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
| Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia |
OMIM:615924 |
| Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Glucose intolerance, Leukopenia, Hypoalbuminemia, Fasting hypoglycemia,... |
ORPHA:2298 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Thrombocytopenia, Splenomegaly, Flexion contra... |
OMIM:617591 |
| Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Cataract, Proteinuria, Abnormal circulating lipid concentration |
ORPHA:225 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir... |
ORPHA:49041 |
| Pseudohypoparathyroidism, Type Ic |
|
Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administration, Hypocalce... |
OMIM:612462 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435660 |
| Galactokinase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hyperinsulinemia, Hepatosplenomegaly, Increased level of galactitol i... |
ORPHA:79237 |
| Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture |
OMIM:615883 |
| Glycogen Storage Disease Vii |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Hematuria, Hy... |
OMIM:232800 |
| Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
| Hypercalcemia, Infantile, 1 |
|
Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalci... |
OMIM:143880 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Thrombocytopenia, Splenomegaly, Flexion contracture, Anemia, Nephrotic... |
OMIM:617303 |
| Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology |
OMIM:609886 |
| Imerslund-Grasbeck Syndrome 1 |
|
Microscopic hematuria, Proteinuria |
OMIM:261100 |
| Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia |
OMIM:127000 |
| X-Linked Sideroblastic Anemia |
|
Splenomegaly, Glucose intolerance, Anemia, Abnormality of iron homeostasis |
ORPHA:75563 |
| Familial Isolated Hyperparathyroidism |
|
Hyperphosphaturia, Renal insufficiency, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos... |
ORPHA:99879 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:254900 |
| Hyperparathyroidism 4 |
|
Nephrolithiasis, Hypercalcemia |
OMIM:617343 |
| Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:848 |
| Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Failure to thrive, St... |
OMIM:308940 |
| Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Cataract, Hypoproteinemia |
OMIM:608093 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Ketonuria, Leukocytosis, Jaundice, Lip... |
ORPHA:20 |
| Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
| Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ... |
ORPHA:470 |
| Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Chronic activ... |
OMIM:203800 |
| Calciphylaxis |
|
Hyperphosphatemia, Stage 5 chronic kidney disease, Cellulitis |
ORPHA:280062 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protein concentration, Portal hyperte... |
OMIM:615688 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Small for gestational age, Nephrot... |
OMIM:251300 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Li... |
ORPHA:2348 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Leukocy... |
ORPHA:247353 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine leve... |
ORPHA:29072 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
OMIM:610539 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Recurrent corneal erosions, Increased blood urea n... |
OMIM:223900 |
| Cog4-Cdg |
|
Hypercholesterolemia, Cirrhosis, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:263501 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... |
OMIM:616959 |
| Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bile duct proliferation, Fasting ... |
OMIM:613027 |
| Glycogen Storage Disease Xi |
|
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... |
OMIM:612933 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Interstitial Lung And Liver Disease |
|
Hepatomegaly, Intraalveolar phospholipid accumulation, Hyperammonemia, Cholestasis, Aminoaciduria... |
OMIM:615486 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hyperalaninemia, Tubulointerstitial nephritis |
OMIM:614582 |
| Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Iron deficiency anemia, Hypocalcemia, Steatorrhea, Type I diabetes mellitus, T... |
OMIM:212750 |
| Myoglobinuria, Autosomal Dominant |
|
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration |
OMIM:160010 |
| Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Elevated circulating creatinin... |
ORPHA:230 |
| Non-Functioning Paraganglioma |
|
Hypercalcemia, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated u... |
ORPHA:94080 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating C-reactive protein concentration, Sterile pyuria, Renal interstitial edema, ... |
ORPHA:91500 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetic ketoacidosis, Hepatic steatosis, Incr... |
OMIM:615238 |
| Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Renal insufficiency, Elevated circulating creatine kinase concentration, Glomeruloneph... |
ORPHA:36234 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis |
OMIM:610205 |
| Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration |
OMIM:261670 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic h... |
ORPHA:79240 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia |
OMIM:118830 |
| Alg6-Cdg |
|
Hypoalbuminemia, Decreased LDL cholesterol concentration, Retinal degeneration |
ORPHA:79320 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Anisocytosis, Flexion contracture, Renal hypoplasia, Lacticaciduria, Aminoaciduria,... |
OMIM:604273 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice |
OMIM:179700 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi... |
ORPHA:37042 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia, Tooth abscess |
ORPHA:89937 |
| Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:613313 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial ... |
ORPHA:139402 |
| Oculoskeletodental Syndrome |
|
Hepatomegaly, Hypercalcemia, Splenomegaly, Elbow flexion contracture, Hypercalciuria, Mucopolysac... |
OMIM:618440 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... |
OMIM:300539 |
| Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatic steatosis, Hepatomegaly, Proteinuria, Abnormal subcutaneous fat tissue distribution, Flex... |
OMIM:212065 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:151660 |
| Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis |
OMIM:270150 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Depletio... |
OMIM:618528 |
| Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Sinusitis, Increased inflammatory res... |
ORPHA:183 |
| Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... |
ORPHA:363400 |
| Glycogen Storage Disease V |
|
Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:232600 |
| Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn... |
OMIM:616307 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
| Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Enamel hypoplasia, Hyperphosphatemia, Low urinary cyclic AMP response to PTH... |
OMIM:103580 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentrat... |
ORPHA:264580 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Renal insufficiency, Failure to thrive, Proteinuria, Hypocalcemic tetany, Hypourice... |
ORPHA:411634 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ... |
ORPHA:488627 |
| Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis |
OMIM:612126 |
| Al Amyloidosis |
|
Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Abnormality of t... |
ORPHA:85443 |
| Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalciuria, Micropenis, Hypospadias, Hypercalcemia |
OMIM:614732 |
| Diffuse Alveolar Hemorrhage |
|
Hematuria, Elevated circulating creatinine concentration, Proteinuria, Weight loss |
ORPHA:90060 |
| Intermediate Uveitis |
|
Anterior uveitis, Psoriasiform dermatitis, Cataract, Band keratopathy, Tubulointerstitial nephrit... |
ORPHA:279914 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Proteinuria, Hyperbilirub... |
OMIM:620010 |
| Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... |
OMIM:609049 |
| Intermediate Osteopetrosis |
|
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
| Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbuminemia, Hepatic steato... |
OMIM:277900 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney disease, Elevated creatine kinase a... |
ORPHA:284426 |
| Acute Adrenal Insufficiency |
|
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Renal insufficiency, Hypog... |
ORPHA:95409 |
| Aicardi-Goutieres Syndrome 9 |
|
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Stage 5 chronic kidney dise... |
OMIM:619487 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Adipose tissue loss, Insuli... |
ORPHA:528 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Micropenis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
| Oculoskeletodental Syndrome |
|
Nephrocalcinosis, Hypercalcemia, Hypocalcemia, Developmental cataract |
ORPHA:557003 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
| Glycogen Storage Disease Ia |
|
Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Hyperuricemia, ... |
OMIM:232200 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Corneal arcus, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:615234 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Renal cyst, Steatorrhea, Proximal tubulopathy, Hypoalbuminemia, Hepatic fibrosis, C... |
OMIM:602579 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Pancreatic adenocarcinoma, Hypercalcemia, Nephrolithiasis, Recurrent pancreatitis, Polycystic kid... |
OMIM:145001 |
| Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
| Xanthinuria, Type Ii |
|
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... |
OMIM:603592 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Nephrocalcinosis, Hypercalciuria, Hypercalcemia, Renal tubular acidosis |
OMIM:239199 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... |
OMIM:600740 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Increased urine deoxypyridinoline level, Macular scar, Hydroxyprolinemia, Hypercalciuria, Hyperph... |
OMIM:239000 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Absence of renal corticomedullary differentiation, Multiple small medullary ... |
OMIM:263200 |
| Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, Elevat... |
OMIM:619991 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... |
OMIM:613095 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
ORPHA:64753 |
| Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Hypospadias, Increased mean platelet volume, Splenomegaly, Abnormality of the pancr... |
OMIM:222470 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Lung abscess, Leukocytosis, Hypoalbuminemia, Anemia |
ORPHA:67 |
| Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Proteinuria, Glomerulonephritis, Thrombocytopenia, Leukocytosis, Chronic kidney disease, ... |
ORPHA:340 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin r... |
ORPHA:79085 |
| Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Increased urine harderoporphyrin level, Increase... |
OMIM:618892 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435651 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Obesity, Hyperuri... |
ORPHA:261222 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of the lymphatic s... |
ORPHA:47 |
| Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic anemia, Reti... |
ORPHA:447 |
| Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Proteinuria, Small for gestational age, Minimal change glomerulonephritis, Hyp... |
ORPHA:1830 |
| Tyrosinemia, Type I |
|
Hypertyrosinemia, Renal insufficiency, Elevated circulating alpha-fetoprotein concentration, Neph... |
OMIM:276700 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes... |
OMIM:145981 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Microvesicular hepat... |
OMIM:618278 |
| Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Perianal abscess, Iron deficiency anemia, ... |
OMIM:301074 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis |
OMIM:216950 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Alg1-Cdg |
|
Nephrotic syndrome, Renal insufficiency, Hypoalbuminemia |
ORPHA:79327 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Anemia, Hypocalcemic seizures |
ORPHA:93325 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Hyperammonemia, Ballooning hepatocyte degeneration, Ar... |
OMIM:603471 |
| Addison Disease |
|
Hyponatremia, Normocytic anemia, Decreased circulating cortisol level, Hypoglycemia, Hypercalcemi... |
ORPHA:85138 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul... |
OMIM:146255 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... |
ORPHA:2364 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Portal hypertension, Flexion contracture, Hepatosplenomegaly, Hypoalbuminemia, Cirr... |
ORPHA:367 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Glomerular sclerosis, Nephropathy, Elevated circulating creatinine concentration, Proteinuria |
ORPHA:247691 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolera... |
ORPHA:2088 |
| Chylomicron Retention Disease |
|
Hypertriglyceridemia, Acanthocytosis, Increased hepatocellular lipid droplets, Steatorrhea, Hypoc... |
ORPHA:71 |
| Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
OMIM:604250 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Focal segmental glomerulosclerosis, Elevated circulating creatine kinase concentration |
OMIM:616239 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypomagnesemi... |
OMIM:619743 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Enuresis, Abnormality of the kidney |
ORPHA:459061 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Intestinal inflammation, Membranoproliferative glomerulonephritis, Proteinuria, Chilblains |
OMIM:619858 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
| Immunodeficiency 92 |
|
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... |
OMIM:619652 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Proteinuria, Hypouricemia, Large for gestational age, Hypophosphatemia, Nephro... |
OMIM:616026 |
| Werner Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c, Retinal degeneration, Cataract |
OMIM:277700 |
| Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio... |
ORPHA:94089 |
| Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Chronic noninfectious lymphadenopathy, Hypercalcemia, Pancreatic islet c... |
ORPHA:97289 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ... |
ORPHA:158684 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Hematuria |
ORPHA:1473 |
| Sanjad-Sakati Syndrome |
|
Abnormal dental enamel morphology, Hypoplasia of penis, Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
OMIM:615381 |
| Glycogen Storage Disease Ib |
|
Proteinuria, Hyperlipidemia, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, Inflammat... |
OMIM:232220 |
| Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
| Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Intrahepatic cholestasi... |
ORPHA:97283 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... |
OMIM:618858 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
| 2P21 Microdeletion Syndrome |
|
Nephrolithiasis, Hypoglycemia, Hypocalcemia, Cystinuria |
ORPHA:163693 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
| Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia, Anemia |
OMIM:174900 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Diabetes mellitus, Anemia ... |
ORPHA:231222 |
| Seckel Syndrome 10 |
|
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Impaired gl... |
OMIM:617253 |
| Lead Poisoning |
|
Decreased HDL cholesterol concentration, Skin rash, Chronic kidney disease, Oligozoospermia, Incr... |
ORPHA:330015 |
| Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... |
OMIM:243910 |
| Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Intrahepatic cholestasi... |
ORPHA:97282 |
| Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Hyperlipidemia, Hematuria, Focal segmental glomerulosclerosis, ... |
OMIM:232240 |
| Syndromic Diarrhea |
|
Hepatomegaly, Inguinal hernia, Increased mean platelet volume, Splenomegaly, Renal hypoplasia, Ab... |
ORPHA:84064 |
| Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Optic atrophy, Hypocalcemia, Anemia |
ORPHA:53 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Splenoportal Vascular Anomalies |
|
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi... |
OMIM:271500 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn... |
OMIM:277400 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
| Nephroblastoma |
|
Hematuria, Nephroblastoma, Weight loss |
ORPHA:654 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
| 46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Ure... |
OMIM:154230 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperlipidemia, Hypertriglyceridemia, Hyperinsulinemia |
OMIM:617885 |
| Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissue, Abnormal ... |
ORPHA:79277 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Insulin-resistant diabetes mellitus, Hypertr... |
ORPHA:66628 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Thrombocytopenia, Splenomegaly, Hyperammonemia, Neutropenia, P... |
ORPHA:79312 |
| Abetalipoproteinemia |
|
Reticulocytosis, Decreased HDL cholesterol concentration, Abnormality of retinal pigmentation, Ac... |
ORPHA:14 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoglycemia, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Hyperammonemia, ... |
OMIM:617093 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... |
OMIM:185000 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Acanthocytosis, Intrahe... |
ORPHA:97280 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt... |
ORPHA:79477 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc... |
OMIM:242150 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Insulin-resistant diabetes mellitus, Hypertr... |
ORPHA:179494 |
| Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia, Exocrine pancreatic insufficiency |
OMIM:260450 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Renal insufficiency, Thrombocytopenia, Hyperammonemia, Renal tubular dysfunction, N... |
ORPHA:289916 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Albuminuria, Aminoaciduria, Elevated circulating long chain fatty acid concentration... |
OMIM:214100 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... |
OMIM:620138 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:254531 |
| Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Lenticonus, Corneal e... |
OMIM:301050 |
| Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Hypercalcemia, Chondrocalcinosis |
ORPHA:2591 |
| Tangier Disease |
|
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl... |
ORPHA:31150 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
| Fanconi Anemia, Complementation Group V |
|
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... |
OMIM:617243 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cataract, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia |
OMIM:175500 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... |
OMIM:606176 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Abnormal circulating selenium concentration, Decreased serum iron, Corneal erosion, Decreased ser... |
ORPHA:89842 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, Cirrhosis, N... |
OMIM:214900 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Aminoacidur... |
OMIM:613404 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Hepatomegaly, Dicarboxylic aciduria, Microvesicular hepatic steat... |
OMIM:613070 |
| Systemic Sclerosis |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Elevated circula... |
ORPHA:90291 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hip contracture, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Knee flexion contracture, Neph... |
OMIM:156400 |
| Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Flexion contracture, Maturity-onset diabetes of the y... |
OMIM:616222 |
| Gitelman Syndrome |
|
Proteinuria, Urinary incontinence, Decreased urinary potassium, Hypermagnesemia, Gout, Tubulointe... |
ORPHA:358 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
| Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... |
ORPHA:466650 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Nephrolithiasis, Stage 5 chronic kidney diseas... |
ORPHA:79259 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
ORPHA:280365 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... |
ORPHA:54251 |
| Cocaine Intoxication |
|
Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Hematuria, T... |
ORPHA:90068 |
| Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Proteinuria, Bilateral cryptorchidism, Stage 5 chronic kidney disease, Nephr... |
OMIM:242900 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... |
ORPHA:1414 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... |
OMIM:613011 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic ane... |
OMIM:243150 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipo... |
OMIM:269700 |
| Cednik Syndrome |
|
Nephrotic syndrome, Proteinuria |
ORPHA:66631 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Hypospadias, Pure red cell aplasia, Erythroid hypoplasia, Developmental g... |
ORPHA:124 |
| Cryoglobulinemic Vasculitis |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:91138 |
| Coach Syndrome 2 |
|
Coloboma, Elevated circulating creatinine concentration, Chorioretinal coloboma |
OMIM:619111 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
| Autosomal Dominant Hypocalcemia |
|
Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypermagnesiuria |
ORPHA:428 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Elevated circulating creatin... |
ORPHA:90038 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Hematuria, Nephropathy, Proteinuria |
ORPHA:1765 |
| Primary Hyperoxaluria |
|
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... |
ORPHA:416 |
| H Syndrome |
|
Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Microcytic anemia, Hepatosplenomegaly, Ly... |
ORPHA:168569 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease... |
OMIM:162000 |
| Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Diabetes mellitus, Hyperuricemia |
ORPHA:77296 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia |
OMIM:259700 |
| Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... |
ORPHA:405 |
| Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia, Myoglobinuria, Acute ki... |
ORPHA:423 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Renal insufficiency, Proteinuria, Corneal opacity, Stage 5 chronic kidney disease, Bilateral rena... |
OMIM:166300 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Coloboma, Hypoalbuminemia, Hypocalcemia, Hypomagnes... |
OMIM:618183 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
| Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Flexion contracture, Hepatospl... |
ORPHA:505248 |
| Cockayne Syndrome Type 1 |
|
Renal insufficiency, Cataract, Proteinuria, Optic atrophy, Pigmentary retinopathy, Conjunctivitis... |
ORPHA:90321 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Hematuria, Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
| Alg12-Cdg |
|
Hyponatremia, Hypospadias, Recurrent hypoglycemia, Abnormal adipose tissue morphology, Hypoalbumi... |
ORPHA:79324 |
| Poems Syndrome |
|
Diabetes mellitus, Lipodystrophy, Lymphadenopathy, Thrombocytosis, Ascites, Polycythemia, Viscero... |
ORPHA:2905 |
| Cystinosis, Nephropathic |
|
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... |
OMIM:219800 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Methylmalonic aciduria, Hyperhom... |
OMIM:277410 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Decreased circulating copper concentration, Sp... |
OMIM:300972 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, He... |
OMIM:248370 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Renal phosphate wasting, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin res... |
OMIM:615980 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hyperlipidemia, Failure to thrive, Proteinuria, Abnormality of the kidney |
ORPHA:369 |
| Aa Amyloidosis |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... |
ORPHA:85445 |
| Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re... |
OMIM:613388 |
| Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content |
OMIM:261750 |
| Majeed Syndrome |
|
Glomerulopathy, Proteinuria, Microscopic hematuria, Cachexia, Weight loss, Failure to thrive |
ORPHA:77297 |
| Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Increased blood urea nitrogen,... |
OMIM:233450 |
| Myh9-Related Disease |
|
Renal insufficiency, Proteinuria, Presenile cataracts, Nephropathy, Nephritis |
ORPHA:182050 |
| Orthostatic Hypotension 1 |
|
Hypomagnesemia, Neonatal hypoglycemia, Nocturia, Increased blood urea nitrogen |
OMIM:223360 |
| Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperphosphaturia, Ketonuria, Hypouricemia, Pr... |
OMIM:227810 |
| Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas |
OMIM:134610 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
| Laron Syndrome |
|
Hypercholesterolemia, Hypoplasia of penis, Hypoglycemia |
ORPHA:633 |
| Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Urinary incontinence, Iron deficiency anemia, Astigmatis... |
OMIM:618885 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Conjugat... |
OMIM:619662 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Neutrophilia, Elevat... |
OMIM:619644 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciuria, Pancreatitis |
OMIM:145980 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
OMIM:611762 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio... |
ORPHA:79444 |
| Cinca Syndrome |
|
Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, H... |
OMIM:607115 |
| Marburg Hemorrhagic Fever |
|
Reticulocytosis, Renal insufficiency, Lymphopenia, Hypoglycemia, Elevated circulating creatine ki... |
ORPHA:99826 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentra... |
OMIM:613327 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
| Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Leukocytosis, Abnormal blood ion concentration, Oliguria, Hypo... |
ORPHA:31824 |
| Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
| Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Anemia, Hypomagnesemia |
OMIM:244460 |
| Brucellosis |
|
Hepatomegaly, Liver abscess, Lung abscess, Glomerulonephritis, Elevated circulating C-reactive pr... |
ORPHA:1304 |
| Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... |
ORPHA:79126 |
| Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Perianal abscess, Hyperlipidemia, Ja... |
ORPHA:444490 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Insulin resistance, Insulin-... |
ORPHA:79086 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Leukocytosis, Hypercholesterolemia, Hyperglycemia, Left ventricular hypertrophy |
ORPHA:90065 |
| Denys-Drash Syndrome |
|
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma |
ORPHA:220 |
| Orotic Aciduria |
|
Orotic acid crystalluria, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
| Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Corneal arcus, Xanthelasma |
OMIM:603776 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Nephrotic syndrome, Proteinuria, Cryptorchidism |
ORPHA:1192 |
| Pearson Syndrome |
|
Renal cyst, Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytos... |
ORPHA:699 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level |
OMIM:171420 |
| Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Renal salt wasting, Hypersplenism, Mi... |
ORPHA:275761 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Abnormal granulocyte morphology, Abno... |
ORPHA:98907 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria, Hypoglycemia, Hyperammonemia |
ORPHA:664 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipo... |
OMIM:608594 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi... |
OMIM:194380 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
| Glycogen Storage Disease Iii |
|
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperlipidemia, H... |
OMIM:232400 |
| Urachal Cyst |
|
Dysuria, Elevated circulating C-reactive protein concentration, Pyuria, Urachus fistula, Hematuria |
ORPHA:488 |
| Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Low urinary cyclic AMP response to PTH administratio... |
ORPHA:79443 |
| Cystinosis |
|
Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Hypokalemia, Am... |
ORPHA:213 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... |
OMIM:235700 |
| Xanthinuria, Type I |
|
Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis |
OMIM:278300 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Knee flex... |
OMIM:608836 |
| Smith-Magenis Syndrome |
|
Retinal detachment, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
| Simple Cryoglobulinemia |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality of the ki... |
ORPHA:91139 |
| Pseudo-Torch Syndrome 3 |
|
Proteinuria, Increased circulating ferritin concentration, Leukocytosis, Acute kidney injury, Con... |
OMIM:618886 |
| Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Failure to thrive |
OMIM:102700 |
| Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, H... |
ORPHA:171 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... |
OMIM:614748 |
| Primary Sjögren Syndrome |
|
Renal insufficiency, Myositis, Chronic active hepatitis, Glomerulonephritis, Abnormality of the k... |
ORPHA:289390 |
| Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Hyperhomocystinemi... |
ORPHA:2169 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... |
OMIM:616649 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Microvesicular ... |
OMIM:619418 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hyperphosphaturia, Increased circulating beta-C-terminal telopeptide concentration, Nephrolithias... |
ORPHA:157215 |
| Alagille Syndrome 1 |
|
Duplicated collecting system, Posterior embryotoxon, Hypertriglyceridemia, Cataract, Band keratop... |
OMIM:118450 |
| Muckle-Wells Syndrome |
|
Renal insufficiency, Elevated circulating C-reactive protein concentration, Leukocytosis, Conjunc... |
OMIM:191900 |
| Hypocomplementemic Urticarial Vasculitis |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:36412 |
| Secondary Intestinal Lymphangiectasia |
|
Lymphopenia, Reduced circulating transferrin concentration, Chylous ascites, Hypoalbuminemia, Cir... |
ORPHA:90363 |
| Hereditary Mucoepithelial Dysplasia |
|
Hematuria, Abnormality of the bladder |
ORPHA:1839 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenom... |
OMIM:259720 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Hypoglycemia, 4-hydroxyphenylacetic aciduria, Conjugated hyperbilirubinemia, Mi... |
OMIM:617156 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Nephrotic syndrome, Mucopolysacchariduria, Proteinuria, Opacification of the corneal stroma |
OMIM:215250 |
| Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Corneal arcus, Xanthelasma |
OMIM:144010 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Renal phosphate wasting, Hypophosphatemia |
OMIM:193100 |
| Autoerythrocyte Sensitization Syndrome |
|
Autoimmune thrombocytopenia, Abnormal erythrocyte morphology, Hematuria, Thrombocytosis, Impaired... |
ORPHA:324636 |
| Low Phospholipid-Associated Cholelithiasis |
|
Diabetes mellitus, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirrhosis, Neopl... |
ORPHA:69663 |
| Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
| Monosomy 13Q34 |
|
Insulin resistance, Hepatic steatosis, Hypercalcemia |
ORPHA:96168 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia, Unilateral renal agenesis |
OMIM:101800 |
| Renal Nutcracker Syndrome |
|
Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria |
ORPHA:71273 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Polyuria, Renal salt wasting, ... |
OMIM:601678 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise... |
ORPHA:368 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Paget Disease Of Bone 2, Early-Onset |
|
Hydroxyprolinuria, Hypercalcemia |
OMIM:602080 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... |
OMIM:182900 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:98855 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hypoglycemia, Hyperuricemia |
ORPHA:364 |
| Castleman Disease |
|
Renal insufficiency, Elevated circulating C-reactive protein concentration, Weight loss, Hematuri... |
ORPHA:160 |
| Megaloblastic Anemia, Folate-Responsive |
|
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... |
OMIM:601775 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Weight loss, Renal tubular ... |
ORPHA:99885 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Scarring, Atrophic scars, Hypoalbuminemia, Enamel hypoplasia, Anemia |
ORPHA:79396 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, A... |
ORPHA:412 |
| Pheochromocytoma |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Developmental cataract, Renal ... |
OMIM:171300 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Aminoaciduria, Hypoalbuminemia,... |
OMIM:619055 |
| Adult-Onset Still Disease |
|
Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Elevated circulating C-reactive protein ... |
ORPHA:829 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoglycemia, 3-Methylglutaconic aciduria, Hypoalbuminemia, Macrovesicular hepatic steatosis, Bil... |
OMIM:618329 |
| Glanzmann Thrombasthenia |
|
Macroscopic hematuria |
ORPHA:849 |
| Legionnaires Disease |
|
Hematuria, Renal insufficiency, Proteinuria, Hyponatremia |
ORPHA:549 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Pancreatic adenocarcinoma, Hypercalcemia, Renal hamartoma, Nephrolithiasis, ... |
ORPHA:99880 |
| Xfe Progeroid Syndrome |
|
Renal insufficiency, Proteinuria, Absence of subcutaneous fat, Corneal scarring, Hypoalbuminemia,... |
OMIM:610965 |
| Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... |
OMIM:615812 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Inguinal hernia, Pancytopenia, Hypoglycemia, Portal hypertension, Cholestasis, Hypoalbuminemia, H... |
OMIM:613658 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia, Hyperinsulinemia, Hyperglycemia |
ORPHA:329249 |
| Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Pancreatic islet cell adenoma, Hypercalcemia, Insulinoma, Increased circulating cor... |
OMIM:131100 |
| Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Hypocalcemia, Micropenis, Ascites |
OMIM:602361 |
| Hypotonia-Cystinuria Syndrome |
|
Nephrolithiasis, Cystinuria, Hypocalcemia, Cystine crystalluria, Neonatal hypoglycemia |
OMIM:606407 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pleural lymphangiectasia, Pericardial lymphangiectasia, Ectopic kidney, Thyroid lymphangiectasia,... |
OMIM:235510 |
| Parathyroid Carcinoma |
|
Renal insufficiency, Pancreatic adenocarcinoma, Hypercalcemia, Renal hamartoma, Nephrolithiasis, ... |
ORPHA:143 |
| Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Abnormality of the u... |
ORPHA:93552 |
| Cogan Syndrome |
|
Keratitis, Leukocytosis, Conjunctivitis, Thrombocytosis, Anemia |
ORPHA:1467 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Lipodystrophy, Elevated circulating C-reactive protein concentration, Leukocytosis,... |
OMIM:617099 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Prolo... |
ORPHA:288 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:98863 |
| Stormorken Syndrome |
|
Hematuria, Elevated circulating creatine kinase concentration |
OMIM:185070 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
| Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:98853 |
| Juvenile Polyposis Of Infancy |
|
Anemia, Refractory anemia, Hypoalbuminemia, Subcutaneous lipoma |
ORPHA:79076 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:616511 |
| Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Hyperuricemia, Uric acid... |
ORPHA:411536 |
| Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Cholangitis, Thrombocytopenia, Leukocyto... |
ORPHA:3260 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
| Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Hypoglycemia, Thrombocytop... |
OMIM:606054 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Primary congenital glaucoma,... |
OMIM:105650 |
| Systemic Lupus Erythematosus |
|
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis |
OMIM:152700 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia |
OMIM:612287 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol... |
OMIM:619381 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Diabetes mellitus, Decreased mean corpuscular hemoglo... |
ORPHA:231214 |
| Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia, Type II diabetes mellitus, Renovascular hypertension |
ORPHA:401923 |
| Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:259900 |
| Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Membranoproliferative glomerulonephritis, Proteinuria... |
ORPHA:48435 |
| Becker Muscular Dystrophy |
|
Abnormal urinary color, Myoglobinuria, Elevated circulating creatine kinase concentration |
ORPHA:98895 |
| Free Sialic Acid Storage Disease |
|
Nephrotic syndrome, Proteinuria, Iris hypopigmentation |
ORPHA:834 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia |
OMIM:612286 |
| Papa Syndrome |
|
Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Arthritis, Crohn's disease |
ORPHA:69126 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:161200 |
| Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia... |
OMIM:619573 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen... |
ORPHA:300298 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Diabetes mellitus, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronep... |
OMIM:598500 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... |
OMIM:300554 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... |
ORPHA:79403 |
| Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... |
OMIM:609057 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, Hypercalciuria, Renal cyst, Nephrocalcinosis, Astigmatism, C... |
ORPHA:369837 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Hydronephrosis, Obesity |
OMIM:619269 |
| Familial Thrombocytosis |
|
Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly |
ORPHA:71493 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia, Maturity-onset diabetes of the young |
ORPHA:96184 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hematuria, Neph... |
ORPHA:1018 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Cataract, Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcinos... |
OMIM:617913 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia |
OMIM:604484 |
| Ruvalcaba Syndrome |
|
Hematuria, Abnormal localization of kidney |
ORPHA:3121 |
| Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia |
ORPHA:2611 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulointerstiti... |
ORPHA:227990 |
| Familial Isolated Hypoparathyroidism |
|
Nephropathy, Cataract, Hypocalcemia |
ORPHA:2238 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Nephrolithiasis, Abnormal adipose tissue morphology, Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
| Familial Cold Autoinflammatory Syndrome 1 |
|
Leukocytosis, Conjunctivitis, Elevated circulating C-reactive protein concentration |
OMIM:120100 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
| Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Proteinuria, Renal artery stenosis |
OMIM:209010 |
| Smith-Magenis Syndrome |
|
Retinal detachment, Hypertriglyceridemia, Abnormality of the ureter, Microcornea, Hypercholestero... |
ORPHA:819 |
| Neuraminidase Deficiency |
|
Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosaccharides, Prote... |
OMIM:256550 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, Optic disc pallor, HbH hemoglobin, Macular coloboma |
ORPHA:423479 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... |
ORPHA:209902 |
| Primary Biliary Cholangitis |
|
Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Biliary cirrhosis, Hepatitis, Abnor... |
ORPHA:186 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine concentration, Pure re... |
OMIM:613179 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Cataract, Cholangitis, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria |
OMIM:124000 |
| Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirub... |
OMIM:613280 |
| Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Thrombocytopenia, Methylmalonic ac... |
OMIM:251110 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:86818 |
| Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
| Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen... |
ORPHA:97278 |
| Ethylene Glycol Poisoning |
|
Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfunction, ... |
ORPHA:31826 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulointerstiti... |
ORPHA:227982 |
| Sarcoidosis |
|
Hemolytic anemia, Renal insufficiency, Hepatomegaly, Scarring, Hypercalcemia, Eosinophilia, Porta... |
ORPHA:797 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
| Hemophilia B |
|
Hematuria |
ORPHA:98879 |
| Mu-Heavy Chain Disease |
|
Nephropathy, Bence Jones Proteinuria, Weight loss |
ORPHA:100024 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Campt... |
OMIM:256040 |
| Myoglobinuria, Recurrent |
|
Recurrent myoglobinuria, Exercise-induced myoglobinuria |
OMIM:550500 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Abnormal circulating calcium concentration, Hypercalciuria, Renal phosph... |
OMIM:241530 |
| Fibrous Dysplasia Of Bone |
|
Increased circulating cortisol level, Diabetes mellitus, Hypercalcemia, Hypophosphatemia |
ORPHA:249 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Highly elevated creatine kinase, Exercise-induced myoglobinuria |
ORPHA:352479 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Elevated creatine kinase after exercise, Myoglobinuria, Acute kidney injury, Hyperkalemia |
ORPHA:57 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Tubulointerstitial fibrosis |
OMIM:607944 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Hematuria, Proteinuria |
OMIM:192315 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the pancreas, Brain abscess, Multiple lipomas, Extrahepatic portal hypertension, Rect... |
ORPHA:2929 |
| Multiple Endocrine Neoplasia Type 4 |
|
Increased urinary cortisol level, Hypercalcemia, Fasting hyperinsulinemia, Insulinoma, Thymoma, E... |
ORPHA:276152 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Elevated circulating creatinine concentration, Decreased urine output, Hyper... |
ORPHA:542323 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... |
OMIM:255120 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Autoimmune thrombocy... |
ORPHA:77293 |
| Klippel-Trénaunay Syndrome |
|
Hematuria |
ORPHA:90308 |
| Megalocornea-Intellectual Disability Syndrome |
|
Iridodonesis, Hypoplasia of the iris, Astigmatism, Hypercholesterolemia, Megalocornea, Abnormal a... |
ORPHA:2479 |
| Hereditary Fructose Intolerance |
|
Hepatomegaly, Renal insufficiency, Reactive hypoglycemia, Jaundice, Chronic kidney disease, Hyper... |
ORPHA:469 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic... |
OMIM:609812 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Urinary incontinence, Hypercalcemia |
ORPHA:476126 |
| Microscopic Polyangiitis |
|
Hematuria, Glomerulopathy, Renal insufficiency, Oliguria |
ORPHA:727 |
| Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Hematuria, Nephrotic syndrome, Urethr... |
ORPHA:2035 |
| Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Nephritis |
ORPHA:3327 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Cardiomegaly, Splenomegaly, Increased circulating ferritin conce... |
OMIM:235200 |
| Cranioectodermal Dysplasia 1 |
|
Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubulointerstiti... |
OMIM:218330 |
| Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration, Corneal crystals |
OMIM:219750 |
| Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Neoplasm of the thymus, Intrahepatic chole... |
ORPHA:97261 |
| Hyperuricemia, Hprt-Related |
|
Hyperuricemia, Renal insufficiency, Nephrolithiasis, Hyperuricosuria |
OMIM:300323 |
| Actinic Prurigo |
|
Cheilitis, Pyoderma, Glomerulonephritis |
OMIM:174770 |
| Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Optic disc pallor, Cataract, Elevated circulating creatine kinase ... |
OMIM:610377 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Hypercalcemia, Jaundice, Extrahepatic cholestasis, Multiple lip... |
ORPHA:913 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Hematuria |
ORPHA:79 |
| Gapo Syndrome |
|
Tubulointerstitial fibrosis |
OMIM:230740 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Generalized aminoaciduria, Hypocalcemia, Hypophosphatemia, Enamel hypoplasia, Hypocalcemic seizures |
OMIM:264700 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myoglobinuria, Elevated circulating creatine kinase concentration |
ORPHA:119 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Abnormal circulating calcium concentration, Enamel hypomineralization, Renal phosphate wasting, R... |
OMIM:307800 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... |
OMIM:609015 |
| Glycogen Storage Disease Ixd |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria |
OMIM:300559 |
| Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Renal insufficiency, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
| Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Elevated circulating crea... |
OMIM:620300 |
| Griscelli Syndrome Type 1 |
|
Hyperlipidemia, Iris hypopigmentation |
ORPHA:79476 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Cataract, Proteinuria |
ORPHA:2715 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia,... |
ORPHA:2785 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly |
ORPHA:163596 |
| Mccune-Albright Syndrome |
|
Hyperphosphaturia, Pancytopenia, Hepatitis, Cholestasis, Hepatocellular adenoma, Renal tubular dy... |
ORPHA:562 |
| Cinca Syndrome |
|
Abnormality of thrombocytes, Abnormality of neutrophils, Elevated circulating C-reactive protein ... |
ORPHA:1451 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria, Cachexia |
ORPHA:2774 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
| Melas |
|
Proteinuria, Focal segmental glomerulosclerosis, Proximal tubulopathy, Nephropathy, Failure to th... |
ORPHA:550 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias... |
OMIM:611881 |
| Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... |
ORPHA:411629 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
| Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein concentration |
OMIM:614204 |
| Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Renal tubular dysfunction, Enuresis, Glycosuria, Nep... |
ORPHA:69076 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
| Neuhauser Syndrome |
|
Hypoplasia of the iris, Hypercholesterolemia, Megalocornea, Iridodonesis |
OMIM:249310 |
| Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:1302 |
| Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Elevated circulating C-react... |
ORPHA:900 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Cryptorchidism, Renal insufficiency, Proteinuria, Renal hypoplasia |
ORPHA:1307 |
| Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Cataract, Band keratopathy, Bicarbonaturia, Bicarbonate-wasting renal tubular ... |
ORPHA:47159 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Renal insufficiency, Small for gestational age, Mild proteinuria, Hyper... |
OMIM:619147 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Abnormal urinary color, Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90037 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentration, Increased ... |
ORPHA:263455 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Nephropathy, Renal insufficiency, Cataract, Hypocalcemia |
ORPHA:1563 |
| Acute Promyelocytic Leukemia |
|
Hematuria, Weight loss |
ORPHA:520 |
| Timothy Syndrome |
|
Hypoglycemia, Hypocalcemia, Cardiomegaly |
OMIM:601005 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Renal insufficiency, Hyperbilirubinemia |
ORPHA:713 |
| Donnai-Barrow Syndrome |
|
Proteinuria, Iris coloboma |
ORPHA:2143 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ... |
OMIM:251100 |
| Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra... |
ORPHA:2614 |
| Fabry Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hyperlipidemia, Hematuria, Nephrotic syndrome, ... |
ORPHA:324 |
| Malakoplakia |
|
Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Urinary hesitancy |
ORPHA:556 |
| Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Failure to thrive, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria... |
ORPHA:18 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
ORPHA:436271 |
| Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... |
ORPHA:411709 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease, Corneal crystals |
OMIM:219900 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Thrombocytosis, Leukocytosis, Hypochromic anemia |
OMIM:618213 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Hematuria |
ORPHA:853 |
| Congenital Factor V Deficiency |
|
Hematuria |
ORPHA:326 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Diabetes mellitus, Elevated hemoglobin A1c |
OMIM:619278 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Glomerulopathy, Renal insufficiency, Proteinuria, Hypoammonemia, Proximal renal tub... |
ORPHA:534 |
| Leptospirosis |
|
Papilledema, Cellular urinary casts, Retinal hemorrhage, Hyperproteinemia, Conjunctival hyperemia... |
ORPHA:509 |
| Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... |
ORPHA:3226 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Brain abscess, Anuria, Diabetes mellitus, Pancreatitis, Leukocyto... |
ORPHA:544482 |
| Staphylococcal Necrotizing Pneumonia |
|
Neutrophilia, Diabetes mellitus, Elevated circulating C-reactive protein concentration, Leukocyto... |
ORPHA:36238 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c, Flexion contracture, Ge... |
OMIM:619127 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia |
ORPHA:2089 |
| Yellow Fever |
|
Renal insufficiency, Anuria, Neutrophilia, Elevated circulating creatine kinase concentration, Ac... |
ORPHA:99829 |
| Systemic Lupus Erythematosus |
|
Hematuria, Proteinuria, Lupus nephritis, Pyuria |
ORPHA:536 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Decreased mean p... |
OMIM:617718 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst |
OMIM:617478 |
| Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
| Wild Type Attr Amyloidosis |
|
Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Nephropathy |
ORPHA:330001 |
| Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Elevated urinary catecholamine level, Hypercalcemia, Elevate... |
ORPHA:653 |
| Giant Cell Arteritis |
|
Hematuria, Renal insufficiency, Weight loss |
ORPHA:397 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Leukocytosis, Peritonitis, Abnormal glucose homeostasis, Neutropenia, Hyperglycemia... |
ORPHA:391673 |
| Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Abnormal circulating calcium concentration, Weight loss, Hematuria, Incr... |
ORPHA:60025 |
| Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Hypophosphatemia, Anemia |
ORPHA:667 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228305 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Proteinuria |
OMIM:603585 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypospadias |
OMIM:610644 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr... |
ORPHA:71212 |
| Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morpholog... |
OMIM:614227 |
| Immunodeficiency 96 |
|
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... |
OMIM:619774 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi... |
OMIM:608612 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Generalized aminoaciduria, Hypocalcemia, Hypophosphatemia, Enamel hypoplasia, Hypocalcemic seizures |
ORPHA:289157 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Moderate albuminuria, Failure to thrive, Membranoproliferative glomerulonephritis, Microscopic he... |
OMIM:619525 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... |
ORPHA:494444 |
| Hypouricemia, Renal, 2 |
|
Hypouricemia, Nephrolithiasis |
OMIM:612076 |
| Gaucher Disease Type 1 |
|
Hematuria, Proteinuria |
ORPHA:77259 |
| Immunoglobulin A Vasculitis |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:761 |
| Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Hypoglycemia, Jaundice, Bicarbonaturia,... |
OMIM:229600 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cho... |
OMIM:607765 |
| Spondyloenchondrodysplasia |
|
Hematuria, Chronic kidney disease, Proteinuria |
ORPHA:1855 |
| Congenital Factor Ii Deficiency |
|
Microscopic hematuria |
ORPHA:325 |
| Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
| Oncogenic Osteomalacia |
|
Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
OMIM:220110 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Enamel hypoplasia, Hypocalcemic seizures, Hypophosphatemia |
OMIM:277440 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia, Micropenis, ... |
ORPHA:163979 |
| Fish-Eye Disease |
|
Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly |
ORPHA:79292 |
| Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:261476 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Exercise-induced myoglobinuria |
OMIM:300653 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
OMIM:606721 |
| Chronic Mucocutaneous Candidiasis |
|
Hematuria, Recurrent urinary tract infections |
ORPHA:1334 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly... |
ORPHA:565612 |
| Ddost-Cdg |
|
Failure to thrive, Nephrotic range proteinuria |
ORPHA:300536 |
| Cholera |
|
Hyponatremia, Abnormality of renal excretion, Hypoglycemia, Abnormal blood ion concentration, Hyp... |
ORPHA:173 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Agra... |
OMIM:301078 |
| Fabry Disease |
|
Renal insufficiency, Proteinuria, Corneal dystrophy, Urinary mulberry cells, Lipiduria |
OMIM:301500 |
| Moderate Hemophilia A |
|
Hematuria |
ORPHA:169805 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Sple... |
OMIM:222700 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration, Splen... |
OMIM:612852 |
| Renal Hypodysplasia/Aplasia 1 |
|
Bilateral renal agenesis, Proteinuria, Renal dysplasia |
OMIM:191830 |
| Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Hepatomegaly, Hypospadias, Unilateral renal agenesis, Splenom... |
OMIM:270400 |
| Livedoid Vasculopathy |
|
Pancytopenia, Diabetes mellitus, Leukocytosis, Hyperhomocystinemia, Atrophic scars, Abnormal circ... |
ORPHA:542643 |
| Wagro Syndrome |
|
Cataract, Proteinuria, Corneal opacity, Aniridia, Nephroblastoma, Decreased testicular size |
OMIM:612469 |
| Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis |
OMIM:130600 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Steatorrhea, Nephrocalcinos... |
OMIM:260400 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk... |
ORPHA:3243 |
| Osteootohepatoenteric Syndrome |
|
Proteinuria, Grade II vesicoureteral reflux, Weight loss, Hypokalemia, Increased serum bile acid ... |
OMIM:619377 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Umbilical hernia, Prolonged neonatal jaundice, Hypercholesterolemia, Abnormal circulating thyrogl... |
ORPHA:90674 |
| Hennekam Syndrome |
|
Camptodactyly of finger, Ectopic kidney, Splenomegaly, Pulmonary lymphangiectasia, Horseshoe kidn... |
ORPHA:2136 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Tubulointerstitial nephritis, Myositis, Thyroiditis, Keratoconjunctivitis sicca |
ORPHA:79078 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Thrombocytopenia, Neutrope... |
OMIM:557000 |
| Amme Complex |
|
Hematuria |
OMIM:300194 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Isotretinoin-Like Syndrome |
|
Inguinal hernia, Lymphopenia, Hypocalcemia |
ORPHA:2306 |
| Relapsing Polychondritis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Chondritis of pinna... |
ORPHA:728 |
| Bardet-Biedl Syndrome 20 |
|
Papilledema, Proteinuria, Astigmatism, Hypercholesterolemia, Micropenis |
OMIM:619471 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Exerci... |
OMIM:201475 |
| Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Lymphocytosis, Hypoch... |
ORPHA:514 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia, Cellulitis |
OMIM:266265 |
| Sickle Cell Disease |
|
Hematuria, Renal insufficiency |
OMIM:603903 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M... |
ORPHA:309854 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Lujo Hemorrhagic Fever |
|
Renal insufficiency, Microscopic hematuria, Oliguria, Elevated circulating C-reactive protein con... |
ORPHA:319213 |
| Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Glomerulonephritis, Impaired neutrophil chemotaxis, Hemolytic-uremic synd... |
ORPHA:2968 |
| Familial Mediterranean Fever |
|
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, ... |
OMIM:249100 |
| Hereditary Chronic Pancreatitis |
|
Leukocytosis, Elevated circulating C-reactive protein concentration |
ORPHA:676 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Recurrent otitis media, Cryptorchidism, Proteinuria, Multiple bladder diverticula |
ORPHA:2728 |
| Plasminogen Deficiency, Type I |
|
Decreased level of plasminogen, Nephrolithiasis, Conjunctivitis, Periodontitis, Nephritis |
OMIM:217090 |
| Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Chronic pancreatitis, Abnormal circulating... |
ORPHA:98908 |
| Donnai-Barrow Syndrome |
|
Cataract, Proteinuria, Non-acidotic proximal tubulopathy, Hypoplasia of the iris, Iris coloboma |
OMIM:222448 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Methanol Poisoning |
|
Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus |
ORPHA:31825 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Leukocytosis, Thrombocytopenia |
ORPHA:83601 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Horseshoe kidney, Increased mean corpuscular volume, Neutropenia, Vesicoureter... |
OMIM:612562 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, Intrahepatic bile duct dilatati... |
OMIM:619534 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria |
OMIM:602199 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Elevated circulating creat... |
OMIM:614643 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Increased serum bile acid concentration, Hyperbilirubinemia, Mild proteinuria |
OMIM:619685 |
| 16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Increased mean corpuscular volume, Astigmatism, Thrombocytopenia |
ORPHA:261250 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Renal tubular acidosis, Hypoglycemia, Transient hyperlipidemia, Hepatomegaly |
ORPHA:156 |
| Bernard-Soulier Syndrome |
|
Partially duplicated kidney, Macroscopic hematuria |
ORPHA:274 |
| Microtriplication 11Q24.1 |
|
Keratoconus, Hyperlipidemia |
ORPHA:289522 |
| Thyrocerebroretinal Syndrome |
|
Nephritis |
OMIM:274240 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Moderate albuminuria, Obesity |
OMIM:614231 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Ketonuria, Elevated circulating creatine kinase concentration, Highly elevated creatine kinase, 3... |
OMIM:251900 |
| Severe Hemophilia A |
|
Macroscopic hematuria |
ORPHA:169802 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Micropenis, Hypospadias, Hypocalcemia, Hypoglycemia |
OMIM:607143 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly... |
ORPHA:83471 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Unilateral renal atrophy, Cryptorchidism, Pyelonephritis, Oligozoospermia, Nephritis, Renal dyspl... |
OMIM:314300 |
| Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... |
OMIM:309000 |
| Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma |
ORPHA:538 |
| Agel Amyloidosis |
|
Cataract, Proteinuria, Stage 5 chronic kidney disease, Keratoconjunctivitis sicca, Lattice cornea... |
ORPHA:85448 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Cholestasis, Hypocalcemia, Left ventricular hypertrophy, Diffuse hepatic steatosis, Hypoketotic h... |
ORPHA:746 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia, Lipoatrophy |
ORPHA:363618 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
| Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, A... |
ORPHA:567983 |
| Ohdo Syndrome |
|
Cryptorchidism, Proteinuria |
OMIM:249620 |
| Multiple Endocrine Neoplasia Type 1 |
|
Neoplasm of the pancreas, Hypercalcemia, Insulinoma, Nephrolithiasis, Hypercalciuria, Thymoma, Mu... |
ORPHA:652 |
| Acquired Von Willebrand Syndrome |
|
Hematuria |
ORPHA:99147 |
| Familial Mediterranean Fever |
|
Pericarditis, Proteinuria, Skin rash, Orchitis, Osteoarthritis, Peritonitis, Nephrocalcinosis, Ne... |
ORPHA:342 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Flexion contracture, Hypospadias, HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Ventral hernia, Inguinal hernia, Widened atrophic scar, Hypertriglyceridemia, Diabetes mellitus, ... |
ORPHA:536532 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... |
OMIM:127550 |
| Hereditary Hemorrhagic Telangiectasia |
|
Hematuria, Nephrolithiasis |
ORPHA:774 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Hypercalciuria, Hepatic calcification, Hyperprostaglandinuria,... |
ORPHA:73224 |
| Mucoepithelial Dysplasia, Hereditary |
|
Hematuria |
OMIM:158310 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Dicarboxylic aciduria |
OMIM:231530 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Conjugated hyperbilirubinemia, Chronic kidney disease, Renal cy... |
OMIM:208500 |
| Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Nephrocalcinosis, Vesico... |
ORPHA:904 |
| Galloway-Mowat Syndrome |
|
Nephropathy, Nephrotic syndrome, Proteinuria |
ORPHA:2065 |
| Paroxysmal Cold Hemoglobinuria |
|
Abnormal urinary color, Hemoglobinuria |
ORPHA:90035 |
| Shigellosis |
|
Hyponatremia, Abscess, Hemolytic-uremic syndrome, Leukocytosis, Urethritis, Abnormal blood ion co... |
ORPHA:810 |
| Congenital Factor X Deficiency |
|
Hematuria |
ORPHA:328 |
| Familial Multiple Lipomatosis |
|
Insulin resistance, Hyperlipidemia, Lipodystrophy, Increased adipose tissue |
ORPHA:199276 |
| Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Abnormality of the pancreas, Mucopolysacchariduria, Hypocalcemia, Neutropenia, Anemia |
ORPHA:175 |
| Williams-Beuren Syndrome |
|
Inguinal hernia, Renal insufficiency, Diabetes mellitus, Hypercalcemia, Portal hypertension, Flex... |
OMIM:194050 |
| Cardiogenic Shock |
|
Elevated circulating creatinine concentration, Oliguria |
ORPHA:97292 |
| Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,... |
ORPHA:50918 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Eosinophilia, Cardiomegaly, Splenomegaly, Hypoalbuminemia, Ascites |
ORPHA:75565 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Scrotal hypospadias, Micropenis, Methemoglobinemia, Hypospadias |
OMIM:250790 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Dysuria, Renal tubular epithelial necrosis, Hematuria, Moderate albumi... |
ORPHA:95455 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Urin... |
ORPHA:79102 |
| Q Fever |
|
Hematuria, Weight loss |
ORPHA:781 |
| Glycerol Kinase Deficiency |
|
Increased urinary glycerol, Hypertriglyceridemia, Hypoglycemia, Hyperglycerolemia, Chronic pancre... |
OMIM:307030 |
| Sotos Syndrome |
|
Hip contracture, Inguinal hernia, Ureteral duplication, Hypospadias, Hypercalcemia, Ankle flexion... |
ORPHA:821 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria |
OMIM:607155 |
| Gaucher Disease Type 3 |
|
Hematuria, Proteinuria |
ORPHA:77261 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal insufficiency, Diabetes mellitus, Unilateral renal agenesis, Hypocalcemia, Polycystic kidne... |
ORPHA:2237 |
| Ogden Syndrome |
|
Global glomerulosclerosis, Eczema, Cryptorchidism, Hydrocele testis, Polycystic kidney dysplasia,... |
OMIM:300855 |
| Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Pneumonia, Ectopic kidney, Cryptorchidism, Abnormal renal morphology, V... |
OMIM:122470 |
| Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... |
ORPHA:3261 |
| Double Outlet Right Ventricle |
|
Aplasia/Hypoplasia of the thymus, Hypocalcemia |
ORPHA:3426 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Cataract, Optic atrophy, Nephrocalcinosis, Thr... |
ORPHA:79500 |
| Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Optic atrophy, Hypocalcemia |
OMIM:618476 |
| Opsismodysplasia |
|
Renal phosphate wasting, Hypophosphatemia |
OMIM:258480 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom... |
ORPHA:231736 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Astigmatism |
OMIM:619769 |
| Atelis Syndrome 2 |
|
Thrombocytopenia, Remnants of the hyaloid vascular system, Anemia, Developmental cataract |
OMIM:620185 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:255125 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine... |
OMIM:616878 |
| Raine Syndrome |
|
Hydroureter, Hypophosphatemia, Arthrogryposis multiplex congenita, Enamel hypoplasia, Hydronephrosis |
OMIM:259775 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... |
ORPHA:86843 |
| Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... |
ORPHA:91495 |
| Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:612300 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
| Martin-Probst Syndrome |
|
Renal insufficiency, Proteinuria, Cryptorchidism, Chordee, Micropenis |
OMIM:300519 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Enthesitis, Renal phos... |
ORPHA:289176 |
| Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... |
ORPHA:189427 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Rift Valley Fever |
|
Hematuria |
ORPHA:319251 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hypospadias, Overweight, Obesity, Hematuria, Hyperbilirubinemia, Decreased body weight, Micropeni... |
OMIM:619475 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Gaucher Disease |
|
Hematuria, Proteinuria, Elevated circulating C-reactive protein concentration |
ORPHA:355 |
| X-Linked Hypophosphatemia |
|
Odontodysplasia, Enthesitis, Renal phosphate wasting, Hypophosphatemia, Hypocalciuria, Cellulitis... |
ORPHA:89936 |
| Digeorge Syndrome |
|
Inguinal hernia, Renal insufficiency, Femoral hernia, Cholelithiasis, Unilateral renal agenesis, ... |
OMIM:188400 |
| Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Myoglobinuria, Elevated circulating creatine kinase concentration |
ORPHA:206549 |
| Cockayne Syndrome |
|
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... |
ORPHA:191 |
| Leukocyte Adhesion Deficiency, Type I |
|
Leukocytosis, Rectal abscess, Elevated circulating C-reactive protein concentration |
OMIM:116920 |
| Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom... |
OMIM:120200 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Insulin resistance, Generalized lipodystrophy |
ORPHA:90154 |
| Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Proteinuria, Weight loss |
ORPHA:35858 |
| Atypical Werner Syndrome |
|
Hypertriglyceridemia, Lipoatrophy, Diabetes mellitus, Insulin-resistant diabetes mellitus, Fastin... |
ORPHA:79474 |
| 22Q11.2 Deletion Syndrome |
|
Inguinal hernia, Hypospadias, Abnormal dental enamel morphology, Abnormality of the tonsils, Abno... |
ORPHA:567 |
| Thymoma |
|
Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leuk... |
ORPHA:99867 |
| Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Myeloprolifer... |
ORPHA:79456 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... |
OMIM:221900 |
| Eisenmenger Syndrome |
|
Brain abscess, Renal insufficiency, Elevated circulating C-reactive protein concentration, Hypoch... |
ORPHA:97214 |
| Hellp Syndrome |
|
Hemoglobinuria, Acute kidney injury, Proteinuria, Increased body weight |
ORPHA:244242 |
| Kawasaki Disease |
|
Pericarditis, Proteinuria, Skin rash, Myocarditis, Hepatitis, Sterile pyuria, Cheilitis, Ascendin... |
ORPHA:2331 |
| Igg4-Related Thyroid Disease |
|
Retroperitoneal fibrosis, Sclerosing cholangitis, Pancreatic fibrosis, Hypocalcemia |
ORPHA:64744 |
| Pure Mitochondrial Myopathy |
|
Recurrent myoglobinuria |
ORPHA:254854 |
| Craniofacioskeletal Syndrome |
|
Hydronephrosis, Absent gallbladder, Hypospadias, Hypocalcemia |
OMIM:300712 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Abnormal hemoglobin, Optic atrophy, Hydronephrosis, Anemia |
ORPHA:847 |
| Velocardiofacial Syndrome |
|
Umbilical hernia, Inguinal hernia, Hypocalcemia |
OMIM:192430 |
| 19P13.12 Microdeletion Syndrome |
|
Arthrogryposis multiplex congenita, Hyperlipidemia, Hypospadias, Hepatic steatosis |
ORPHA:254346 |
| Crimean-Congo Hemorrhagic Fever |
|
Hematuria, Proteinuria, Elevated circulating creatine kinase concentration |
ORPHA:99827 |
| Pmm2-Cdg |
|
Multiple joint contractures, Lipodystrophy, Proteinuria, Reduced thyroxin-binding globulin, Abnor... |
ORPHA:79318 |
| Caroli Syndrome |
|
Liver abscess, Hypersplenism, Conjugated hyperbilirubinemia, Leukocytosis, Conjunctival icterus, ... |
ORPHA:480520 |
| Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the urinary system physiology, Ne... |
ORPHA:2552 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Thoracic aortic aneurysm, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Rena... |
OMIM:619351 |
| Aymé-Gripp Syndrome |
|
Pericarditis, Cataract, Proteinuria, Cryptorchidism, Developmental cataract, Megalocornea |
ORPHA:1272 |
| Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipoatrophy, Hypospadias, Flexion cont... |
OMIM:264090 |
| Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Cataract, Abnormality of the kidney, Py... |
ORPHA:2036 |
| Acute Generalized Exanthematous Pustulosis |
|
Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neut... |
ORPHA:293173 |
| Cockayne Syndrome B |
|
Renal insufficiency, Proteinuria, Cryptorchidism, Developmental cataract, Microcornea, Hypoplasia... |
OMIM:133540 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Optic nerve hypoplasia, Leukocytosis, Optic atrophy, Renal hypoplasia, Azotemia, Micropenis |
OMIM:619321 |
| Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral... |
ORPHA:391641 |
| Chronic Graft Versus Host Disease |
|
Hematuria, Urinary bladder inflammation, Weight loss, Phimosis |
ORPHA:99921 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypospadias, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Umbilical hernia,... |
OMIM:301040 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Reduced subcutaneous adipose tissue, Hip contracture, Inguinal hernia, Hemolytic anemia, Unilater... |
OMIM:619503 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Nephrotic syndrome, Malar rash, Nephritis |
OMIM:603909 |
| Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Chronic otitis media, Hydronephrosis |
ORPHA:2750 |
| Hand-Foot-Genital Syndrome |
|
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure... |
OMIM:140000 |
| Holoprosencephaly |
|
Hyponatremia, Hypoplasia of penis, Proteinuria, Cryptorchidism, Abnormality of the urinary system... |
ORPHA:2162 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Hyperlipidemia, Flexion contracture |
ORPHA:90153 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy, Ren... |
OMIM:260920 |
| Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Cholelithiasis |
ORPHA:273 |
| Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipoatrophy, Camptodactyly of finger, ... |
ORPHA:3455 |
| Johanson-Blizzard Syndrome |
|
Hepatomegaly, Diabetes mellitus, Hypospadias, Increased VLDL cholesterol concentration, Urethrova... |
OMIM:243800 |
| Cockayne Syndrome A |
|
Renal insufficiency, Cataract, Proteinuria, Cryptorchidism, Opacification of the corneal stroma, ... |
OMIM:216400 |
| Orofaciodigital Syndrome I |
|
Proteinuria, Polycystic kidney dysplasia |
OMIM:311200 |
| Aromatase Deficiency |
|
Enlarged polycystic ovaries, Insulin resistance, Hyperlipidemia, Type II diabetes mellitus, Hepat... |
ORPHA:91 |
| Charge Syndrome |
|
Cataract, Renal hypoplasia, Horseshoe kidney, Hydronephrosis, Coloboma, Retinal coloboma, Hypocal... |
OMIM:214800 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Homozygous Familial Hypercholesterolemia |
|
Optic neuropathy, Hyperlipidemia, Increased LDL cholesterol concentration, Renal artery stenosis,... |
ORPHA:391665 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Neutrophilia, Scarring, Microcytic anemia, Leukocytosis, Umbilical hernia, Anemia |
ORPHA:99843 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
| Alström Syndrome |
|
Urinary incontinence, Functional abnormality of the bladder, Hepatic fibrosis, Micropenis, Hepati... |
ORPHA:64 |
| Igg4-Related Pachymeningitis |
|
Sinusitis, Elevated circulating C-reactive protein concentration, Lymphadenitis, Nephritis, Pancr... |
ORPHA:449427 |
| Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria |
ORPHA:2714 |
| Zygomycosis |
|
Renal insufficiency, Sinusitis, Fasciitis, Pericarditis, Gastritis, Pustule, Myocarditis, Periton... |
ORPHA:73263 |
| Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
| Oculopalatocerebral Syndrome |
|
Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Hydronephrosis, Umbilical hernia, Hypocalcemia |
OMIM:620330 |
| Woodhouse-Sakati Syndrome |
|
Hyperlipidemia, Diabetes mellitus, Micropenis |
OMIM:241080 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Cryptorchidism, Proteinuria |
OMIM:616682 |
| Woodhouse-Sakati Syndrome |
|
Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Micropenis |
ORPHA:3464 |
| Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ecto... |
ORPHA:649 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperlipidemia, Hyperkalemia, Enuresis, Hyperglycemia |
ORPHA:293987 |
| Acromelic Frontonasal Dysostosis |
|
Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
| Neuroocular Syndrome |
|
Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Lens coloboma, Blue irides, ... |
OMIM:619539 |
| Full Nf2-Related Schwannomatosis |
|
Posterior subcapsular cataract, Remnants of the hyaloid vascular system, Cortical cataract |
ORPHA:637 |
| Microphthalmia, Syndromic 2 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Hypospadias, Developmental cataract,... |
OMIM:300166 |
| Holoprosencephaly 2 |
|
Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma |
OMIM:157170 |
