| Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
OMIM:618883 |
| Blue Diaper Syndrome |
|
Hypercalcemia, Nephrocalcinosis, Recurrent hypoglycemia, Increased proinsulin:insulin ratio, Hype... |
ORPHA:94086 |
| Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creatinine concentration, He... |
OMIM:614817 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis, Hypomagnese... |
OMIM:601198 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemic seizures, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hyperphosphatemia |
ORPHA:2239 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... |
OMIM:308990 |
| Pseudohypoparathyroidism, Type Ib |
|
Low urinary cyclic AMP response to PTH administration, Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:94090 |
| Hyperphosphatemia, Polyuria, And Seizures |
|
Polyuria, Hyperphosphatemia |
OMIM:239350 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Nephronophthisis 16 |
|
Hypertrophic cardiomyopathy, Hepatic fibrosis, Nephronophthisis, Situs inversus totalis, Pulmonic... |
OMIM:615382 |
| Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Renal phosphate wasting, Medullary nephrocalci... |
OMIM:616963 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:146200 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Hyperlipoproteinemia, Splenomegaly |
OMIM:118830 |
| Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Hyperammonemia, Ci... |
OMIM:271500 |
| Nephronophthisis 2 |
|
Hyperkalemia, Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creati... |
OMIM:602088 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Myoglobinuria, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Congenital Megacalycosis |
|
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... |
ORPHA:93109 |
| Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... |
OMIM:613496 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Anuria, Elevated circulating creatinine concentration, Hematur... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Anuria, Elevated circulating creatinine concentration, Hematur... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Anuria, Elevated circulating creatinine concentration, Hematur... |
OMIM:612925 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Anuria, Elevated circulating creatinine concentration, Hematur... |
OMIM:612924 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Anuria, Elevated circulating creatinine concentration, Hematur... |
OMIM:612926 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly |
OMIM:619175 |
| Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Renal phosphate wasting, Renal hypophosphatemia |
OMIM:241519 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... |
ORPHA:94088 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Exercise-induced myoglobinuria, Dark urine, Acute ... |
ORPHA:99845 |
| Dent Disease 2 |
|
Nephrocalcinosis, Elevated circulating creatine kinase concentration, Proximal tubulopathy, Hypop... |
OMIM:300555 |
| Azotemia, Familial |
|
Azotemia |
OMIM:109160 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin-resistant diabetes mellitus, Enlarged kidney, Enlarged polycystic ovaries, Insulin resist... |
ORPHA:90301 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Increased renal tubular phosphate reabsorption, Calcinosis, Nephrocalcinosis, Decreased renal tub... |
OMIM:211900 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia, Calcium nephrolithiasis, Hyperphosphatemia |
ORPHA:36913 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Cystic renal dysplasia, Hepatomegaly, Hypertrophic cardiomyopathy, Truncus arteriosus, Hepatic fi... |
OMIM:615415 |
| Fanconi Renotubular Syndrome 2 |
|
Generalized aminoaciduria, Proximal tubulopathy, Hypophosphatemia, Glycosuria, Hypercalciuria, Re... |
OMIM:613388 |
| Calciphylaxis |
|
Stage 5 chronic kidney disease, Hyperphosphatemia |
ORPHA:280062 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria, Hypoglycemia, Hyperammonemia |
ORPHA:664 |
| Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Hyperlipoproteinemia, Splenomegaly |
OMIM:615947 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Fasting hypoglycemia, Generalized aminoaciduria, Hepatocellular ... |
ORPHA:2088 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Jaundice, Reticulocytosis,... |
OMIM:237800 |
| Tyrosinemia, Type I |
|
Hypertrophic cardiomyopathy, Renal Fanconi syndrome, Hepatomegaly, Hypoglycemia, Elevated urinary... |
OMIM:276700 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Insulin resistance, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosp... |
OMIM:612526 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Hyperbilirubinemia, Splenomegaly |
OMIM:179700 |
| X-Linked Sideroblastic Anemia |
|
Glucose intolerance, Abnormality of iron homeostasis, Anemia, Splenomegaly |
ORPHA:75563 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Pericardial effusion, Elevated circulating creatine kinase concentration, Hematuria... |
ORPHA:231111 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Hypertrigl... |
OMIM:610947 |
| Fanconi Renotubular Syndrome 5 |
|
Tubulointerstitial fibrosis, Hypophosphatemia, Stage 5 chronic kidney disease, Glycosuria, Aminoa... |
OMIM:618913 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia |
OMIM:614480 |
| Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Hypokalemia, Lacticaciduria, Hypophosphatemia, Glycosuria, Aminoacidur... |
OMIM:134600 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Splenomegaly |
OMIM:206400 |
| Aa Amyloidosis |
|
Hepatomegaly, Nephrotic syndrome, Abnormal heart morphology, Acute kidney injury, Cholestasis, Ne... |
ORPHA:85445 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Splenomeg... |
OMIM:263200 |
| Hyperphosphatasia With Mental Retardation Syndrome 3 |
|
Hyperphosphatemia |
OMIM:614207 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Anemia, Elevated transferrin satur... |
OMIM:606069 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Hypochromia, Type II diabetes mellitus, Elevated hepatic iron concentration, Erythr... |
OMIM:616860 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinuria, Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
| Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hypocalcemic seizures, Low urinary cyclic AMP response to PTH administration... |
ORPHA:94089 |
| Uremic Pruritus |
|
Hypercalcemia, Chronic kidney disease, Stage 5 chronic kidney disease, Increased blood urea nitro... |
ORPHA:94059 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Mitral valve prolapse, Pancreatic cysts, Elevated circulating creatinine concentration, Decreased... |
ORPHA:730 |
| Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Glucose intolerance, Impai... |
OMIM:147630 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Micropenis, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
OMIM:241410 |
| Pseudohypoparathyroidism, Type Ic |
|
Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Hyperphosphatemia |
OMIM:612462 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... |
OMIM:613092 |
| Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
| Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Glomerulonephriti... |
OMIM:104200 |
| Galactosemia Iii |
|
Hepatomegaly, Hypergalactosemia, Splenomegaly, Aminoaciduria, Galactosuria, Jaundice |
OMIM:230350 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Erythroid hyperplasia, Anemia, Hyperbilirubinemia, Spl... |
OMIM:613673 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... |
ORPHA:93108 |
| Hemochromatosis, Type 2B |
|
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Anemia, Elevated transferrin saturation, Ca... |
OMIM:613313 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Schistocytosis, Microangiopathic hemolytic anemia, Abnormal renal physiology, Elevated circulatin... |
OMIM:274150 |
| Familial Isolated Hyperparathyroidism |
|
Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Infantile hypercalcemia, Hy... |
ORPHA:99879 |
| Pseudohypoparathyroidism, Type Ia |
|
Low urinary cyclic AMP response to PTH administration, Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hyperphosphaturia, Renal phosphate wasting, Hypophosphatemia, Nephrolithiasis |
OMIM:612287 |
| Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Hyponatremia, Leukocytosis, Myoglobinuria, Thrombocytosis, Hypernatremia, Elevated ... |
ORPHA:94093 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Macroscopic hematuria, Hypercalcemia, Episodic hemolytic anemia, Increased blood urea nitrogen, M... |
ORPHA:251004 |
| Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, B... |
OMIM:607616 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hyperphosphaturia, Hypophosphatemia, Nephrolithiasis, Renal phosphate wasting, Hypercalciuria |
OMIM:612286 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Hepatomegaly, Ureteral duplication, Decreased plasma free carnitine, Hydr... |
OMIM:608836 |
| Malignant Hyperthermia Of Anesthesia |
|
Hyperkalemia, Myoglobinuria, Elevated creatine kinase after exercise, Acute kidney injury, Cardio... |
ORPHA:423 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241520 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hypercalcemia, Hyperphosphatemia |
OMIM:617994 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Polysplenia, Renal dysplasia, Hepatic... |
OMIM:208540 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kin... |
OMIM:600649 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... |
ORPHA:766 |
| Glycogen Storage Disease Ia |
|
Hepatomegaly, Focal segmental glomerulosclerosis, Hypoglycemia, Hyperlipidemia, Hepatocellular ca... |
OMIM:232200 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Schistocytosis, Hyperlipidemia, Microangiopathic hemolytic anemia, Anuria, Elevated circulating c... |
OMIM:235400 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Focal segmental glomerulosclerosis, Hypoglycemia, Neutropenia, Hyperlipidemia, Hepa... |
OMIM:232220 |
| Carnitine Deficiency, Systemic Primary |
|
Decreased carnitine level in liver, Hepatomegaly, Hypertrophic cardiomyopathy, Hypoglycemia, Endo... |
OMIM:212140 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Hypoalbuminemia |
ORPHA:88643 |
| Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Hypouricemia, Renal tubular dysfunction, Generalized aminoaciduria, Hypokalemi... |
OMIM:227810 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
| Autosomal Dominant Hypocalcemia |
|
Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypermagnesiuria, Hypercalciuria, Hyperphosphatemia |
ORPHA:428 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Endocardial fibrosis, Restrictive cardiomyopathy, Splenomegaly, Myeloproliferative ... |
OMIM:607685 |
| Cystinosis |
|
Portal hypertension, Renal tubular dysfunction, Hypokalemia, Hypophosphatemia, Type I diabetes me... |
ORPHA:213 |
| Immunodeficiency 69 |
|
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Increased circulating ferritin concentration,... |
OMIM:618963 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Po... |
OMIM:615234 |
| Hyperparathyroidism, Neonatal Severe |
|
Hypercalcemia, Hepatomegaly, Calcinosis, Hyperphosphaturia, Aminoaciduria, Hypophosphatemia, Anem... |
OMIM:239200 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration, Chole... |
OMIM:619658 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:193100 |
| Sanjad-Sakati Syndrome |
|
Hypoplasia of penis, Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Anemia, Increase... |
ORPHA:230 |
| Sea-Blue Histiocyte Disease |
|
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Iron deficiency anemia, Hyperbilirubinemia, Sple... |
OMIM:616278 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Leukocytosis, Decreased urine output, Tubulointerstitial nephritis, Anuria, Elevate... |
ORPHA:340 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Generalized aminoaciduria, Hypoglycemia, Renal sodium wasting, Hypokalemia, Increas... |
ORPHA:3337 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hyperphosphaturia, Hypophosphatemia, Nephrolithiasis, Increased circulating beta-C-terminal telop... |
ORPHA:157215 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Hypertrophic cardiomyopa... |
OMIM:617303 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Persistence of hemoglobin F, Splenomegaly, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Renal... |
OMIM:255120 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Multiple small medullary renal cysts, Hypophosphatemia, Nephrolithiasis, Parathorm... |
OMIM:600740 |
| Dent Disease 1 |
|
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Hypophosphatemia, Nephr... |
OMIM:300009 |
| Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly |
OMIM:615593 |
| Hemochromatosis, Type 1 |
|
Increased serum iron, Hepatomegaly, Hepatocellular carcinoma, Ascites, Glucose intolerance, Cardi... |
OMIM:235200 |
| Tyrosinemia Type 1 |
|
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly, Hypocalcemia |
ORPHA:100025 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Abnormal penis morphology, Hyperphosphatemia |
ORPHA:457059 |
| Harderoporphyria |
|
Hemolytic anemia, Hepatomegaly, Neonatal hyperbilirubinemia, Splenomegaly, Increased circulating ... |
OMIM:618892 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydronephrosis, Urethral atresia, Atrioventricular canal defect, Transposition of the great arter... |
OMIM:314390 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Hydronephrosis, Normocytic anemia, Nephrotic syndrome, Renovascular hypertension, Membranous neph... |
ORPHA:49041 |
| Amyloidosis, Familial Visceral |
|
Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly, Cholestasis, Nephropathy, Proteinuria |
OMIM:105200 |
| Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... |
OMIM:133180 |
| Hereditary Fructose Intolerance |
|
Hepatomegaly, Chronic kidney disease, Hypophosphatemia, Hyperuricemia, Reactive hypoglycemia, Hyp... |
ORPHA:469 |
| Refractory Celiac Disease |
|
Hypoproteinemia, Hypoalbuminemia, Macrocytic anemia, Normocytic anemia, Iron deficiency anemia, H... |
ORPHA:398063 |
| Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Renal Fanconi syndrome, Hypokalemia, Proximal tu... |
ORPHA:411634 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Hyperlipidemia, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, Neonatal ch... |
OMIM:214900 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Nephrocalcinosis, Proximal tubulopathy, Hypophosphatemia, Nephrolithiasis, Renal phosphate wastin... |
OMIM:300554 |
| Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Anemia, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
| Hemochromatosis, Type 2A |
|
Increased serum iron, Hepatomegaly, Dilated cardiomyopathy, Cardiomyopathy, Splenomegaly, Cirrhos... |
OMIM:602390 |
| Hyperlipoproteinemia, Type Iv |
|
Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:144600 |
| Hypertriglyceridemia 1 |
|
Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:145750 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Hepatomegaly, Hyperphosphaturia, Hypoglycemia, Nephrocalcinosis, Glycosuria, Diabet... |
OMIM:616026 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Dent Disease |
|
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... |
ORPHA:1652 |
| Mody |
|
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemic hypog... |
ORPHA:552 |
| Nephronophthisis 19 |
|
Hepatomegaly, Hepatic fibrosis, Nephronophthisis, Bile duct proliferation, Stage 5 chronic kidney... |
OMIM:616217 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Hyperphosphaturia, Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
| Fructose Intolerance, Hereditary |
|
Hepatomegaly, Hyperphosphaturia, Hypoglycemia, Transient aminoaciduria, Proximal tubulopathy, Hyp... |
OMIM:229600 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Low urinary cyclic AMP response to PTH ad... |
ORPHA:79444 |
| Colchicine Poisoning |
|
Myocarditis, Hyponatremia, Leukocytosis, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Oliguria,... |
ORPHA:31824 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia, Unilateral renal agenesis |
OMIM:101800 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Hypoglycemia, Cardiomegaly, Anemia |
OMIM:618838 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Nephrotic syndrome, Elevated circulating creatine kinase concentration, Cardiomegal... |
OMIM:617713 |
| Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
| Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Abnormal lymphatic vessel morphology, Pericardial effusion, Lymphangioma, Abnor... |
ORPHA:464329 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary... |
ORPHA:731 |
| Glycogen Storage Disease Ixc |
|
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Increased hepatic glycogen content, Bile duct p... |
OMIM:613027 |
| Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia, Abnormality of the kidney |
ORPHA:2611 |
| Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Hemolytic anemia... |
OMIM:185000 |
| Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612653 |
| Igg4-Related Kidney Disease |
|
Tubulointerstitial nephritis, Lymphadenopathy, Chronic kidney disease, Eosinophilia, Elevated cir... |
ORPHA:449395 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Unconjugated hyperbilirubinemia, Pancytopenia, Chronic kidney disease, Hemosiderinuria, Hemolytic... |
ORPHA:447 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypercalcemia, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:612089 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Renal tubular dysfunction, Abnormal abdomen morphology, Hypophosphatemia, Renal phosphate wasting... |
OMIM:241530 |
| Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hypocalcemic tetany, Hypocalcemic seizures, Low urinary cyclic AMP response to PTH ad... |
ORPHA:79443 |
| Timothy Syndrome |
|
Ventricular septal defect, Hypoglycemia, Cardiomegaly, Tetralogy of Fallot, Hypocalcemia, Patent ... |
OMIM:601005 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbiliru... |
OMIM:616689 |
| Pearson Syndrome |
|
Neutropenia, Lacticaciduria, Hypophosphatemia, Splenomegaly, Diabetes mellitus, Pancytopenia, Ren... |
ORPHA:699 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis |
ORPHA:66661 |
| Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Pancreatic hypoplasia, Ureteropelvic junction obstruction, Diabetes mellitus, Unilat... |
OMIM:137920 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hepatocellular necrosis, Elevated circulating creatine... |
OMIM:201475 |
| H Syndrome |
|
Lymphadenopathy, Micropenis, Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia, Diabete... |
ORPHA:168569 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosi... |
OMIM:182900 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Nonsphe... |
OMIM:235700 |
| Fish-Eye Disease |
|
Lymphadenopathy, Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly |
ORPHA:79292 |
| Exercise-Induced Malignant Hyperthermia |
|
Hyperkalemia, Elevated circulating creatine kinase concentration, Acute kidney injury, Oliguria, ... |
ORPHA:466650 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypercalcemia, Hypocalcemic seizures, Hypomagnesiuria, Nephrolithiasis, Parathormone-independent ... |
ORPHA:405 |
| Acrodysostosis With Multiple Hormone Resistance |
|
Hypospadias, Hyperphosphatemia, Diabetes mellitus, Hypocalcemia |
ORPHA:280651 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Acanthocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosi... |
OMIM:616649 |
| Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased c... |
OMIM:207750 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemia, Hyperlipidemia, Increased hepatic glycogen content, Tubulointerstitial fibrosis, Ne... |
ORPHA:79259 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Anemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
| Beckwith-Wiedemann Syndrome |
|
Renal cortical cysts, Hepatomegaly, Nephrocalcinosis, Cardiomegaly, Nephrolithiasis, Hepatoblasto... |
OMIM:130650 |
| Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Abnormality of iron homeostasis, Hepatitis, Abnormal h... |
ORPHA:848 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production |
OMIM:224100 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypertrophic cardiomyopathy, Heavy proteinuria, Nephrotic syndrome, Leukopenia, Abnormal heart mo... |
ORPHA:505248 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Abnormal renal physiology, Elevated circulating creatinine concentration, Glomerular sclerosis, I... |
OMIM:223900 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperprolinemia, Perimembranous ventricular septal defect, Cardiomegaly, Hyperalaninemia |
OMIM:619170 |
| Infantile Nephropathic Cystinosis |
|
Renal Fanconi syndrome, Hyperphosphaturia, Renal tubular dysfunction, Hypokalemia, Abnormal tubul... |
ORPHA:411629 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:307800 |
| Meacham Syndrome |
|
Dextrocardia, Horseshoe kidney, Bicuspid aortic valve, Ventricular septal defect, Cardiac total a... |
OMIM:608978 |
| Leprechaunism |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Fasting hypoglycemia, Hypokalemia, Insulin resistance,... |
ORPHA:508 |
| Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ... |
OMIM:603860 |
| Acrocephalopolydactylous Dysplasia |
|
Cystic renal dysplasia, Hepatomegaly, Hepatic fibrosis, Ascites, Pancreatic fibrosis, Polysplenia... |
OMIM:200995 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Decreased plasma free carnitine, Tubulointerstitial nephritis, Hyperlipidemia, Red-brown urine, E... |
ORPHA:228308 |
| Attrv30M Amyloidosis |
|
Abnormal renal physiology, Cardiomegaly, Cardiomyopathy, Nephropathy |
ORPHA:85447 |
| Diaphanospondylodysostosis |
|
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Abnormal liver lobulation, Enlarge... |
OMIM:608022 |
| Cockayne Syndrome Type 1 |
|
Hepatomegaly, Anemia, Increased blood urea nitrogen, Proteinuria, Renal insufficiency |
ORPHA:90321 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, El... |
OMIM:174000 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Hypercalciuria |
OMIM:156400 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Nephrolithiasis, Hypocalcemia |
ORPHA:93160 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Nephrocalcinosis, Pancreatic adenocarcinoma, Hypophosphatemia, Renal cyst, Nephrol... |
ORPHA:99880 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Unconjugated hyperbilirubinemia, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecys... |
OMIM:266200 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Increased red cell hemolysis by shear stress, Hemoglobinuria, Hepatitis, Cholelithi... |
OMIM:194380 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Hepatomegaly, Abnormality of iron homeostasis, Cholangiocarcinoma, Hepatocellular carcinoma, Hype... |
ORPHA:465508 |
| Parathyroid Carcinoma |
|
Hypercalcemia, Nephrocalcinosis, Pancreatic adenocarcinoma, Hypophosphatemia, Renal cyst, Nephrol... |
ORPHA:143 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Hemoglobinuria, Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehy... |
OMIM:300908 |
| Danon Disease |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concent... |
OMIM:300257 |
| Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Lymphadenitis, Cardiomegaly, Anemia, Increased circulating ferritin concentration, ... |
OMIM:618886 |
| Beckwith-Wiedemann Syndrome |
|
Hypoglycemia, Congenital megaureter, Splenomegaly, Neonatal hypoglycemia, Nephropathy, Hypercalci... |
ORPHA:116 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly |
ORPHA:90037 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglyceridemia, Pancyto... |
OMIM:618398 |
| Solute carrier family 4 (anion exchanger), member 1 |
|
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Jaundice, Ret... |
OMIM:109270 |
| Beta-Thalassemia Intermedia |
|
Hepatomegaly, Abnormality of iron homeostasis, Leukocytosis, Elevated hepatic iron concentration,... |
ORPHA:231222 |
| Familial Atrial Myxoma |
|
Bacterial endocarditis, Cardiac myxoma, Ascites, Cardiomegaly, Cholestasis, Pulmonic valve myxoma... |
ORPHA:615 |
| Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
| Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena... |
ORPHA:255249 |
| Oncogenic Osteomalacia |
|
Hyperphosphaturia, Renal phosphate wasting, Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Generalized aminoaciduria, Hypophosphatemia, Hypocalcemic seizures |
OMIM:264700 |
| Insulin-Resistance Syndrome Type B |
|
Fasting hypoglycemia, Insulin-resistant diabetes mellitus, Enlarged ovaries, Fasting hyperinsulin... |
ORPHA:2298 |
| Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Micropenis, Hyperechogenic kidneys, Microphallus, Enlarged kidney |
OMIM:612651 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hepatomegaly, Ventricular septal defect, Maternal diabetes, Biventricular hypertrophy, Abnormal m... |
ORPHA:860 |
| Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Pancreatitis, Lactescent serum, Splenomegaly, Hypercholesterolemia, Jaundice, Hep... |
OMIM:238600 |
| Cardiomyopathy, Familial Hypertrophic 27 |
|
Cardiomegaly |
OMIM:618052 |
| Spherocytosis, Type 5 |
|
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612690 |
| Sickle Cell Anemia |
|
Hepatomegaly, Leukocytosis, Hematuria, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red ... |
OMIM:603903 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney |
ORPHA:79128 |
| Erythrocytosis, Familial, 8 |
|
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... |
OMIM:222800 |
| Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Restrictive cardiomyopathy, Cardiomegaly, Anemi... |
ORPHA:85451 |
| Alg9-Cdg |
|
Hepatomegaly, Hydronephrosis, Ventricular septal defect, Right ventricular dilatation, Pericardia... |
ORPHA:79328 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypophosphatemia |
OMIM:600081 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Generalized aminoaciduria, Hypophosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:289157 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Biliary cirrhosis, Portal hypertension, Scler... |
OMIM:617394 |
| Mccune-Albright Syndrome |
|
Hyperphosphaturia, Renal tubular dysfunction, Hepatitis, Hypophosphatemia, Bone marrow hypocellul... |
ORPHA:562 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Hypophosphatemia, Hypocalcemic seizures |
OMIM:277440 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Dextrocardia, Horseshoe kidney, Ventricular septal defect, Abdominal situs inversus, Renal agenes... |
OMIM:306955 |
| Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:185020 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly |
OMIM:617441 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Abnormality of the lymphatic system, Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney |
OMIM:613091 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Lymphadenopathy, Hypophosphatemia, Anemia, Splenomegaly, Hypocalcemia, Abnormal pul... |
ORPHA:667 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
| Thyrotoxic Periodic Paralysis |
|
Hyperkalemia, Episodic hypokalemia, Urinary retention, Mildly elevated creatine kinase, Decreased... |
ORPHA:79102 |
| Cirrhotic Cardiomyopathy |
|
Left atrial enlargement, Hepatomegaly, Ascites, Increased circulating galectin-3 level, Abnormal ... |
ORPHA:57777 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Chronic neutropenia, Ventricular septal defect, Renal malrotation, Mitral valve prolapse, Bifid u... |
ORPHA:500095 |
| Opsismodysplasia |
|
Renal phosphate wasting, Hypophosphatemia |
OMIM:258480 |
| Elliptocytosis 1 |
|
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly |
OMIM:611804 |
| Raine Syndrome |
|
Hydronephrosis, Hydroureter, Hypophosphatemia |
OMIM:259775 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypokalemia, Nephrocalcinosis, Hematuria, Hypophosphatemia, Nephrolithiasis, Proxim... |
ORPHA:534 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... |
OMIM:231005 |
| Goodpasture Syndrome |
|
Macroscopic hematuria, Anemia, Cylindruria, Increased blood urea nitrogen, Erythrocyte cylindruri... |
OMIM:233450 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
| Fibrous Dysplasia Of Bone |
|
Hypercalcemia, Hypophosphatemia, Diabetes mellitus |
ORPHA:249 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Biventricular hypertrophy, Ascites, Cardiomegaly, Cardiomyopathy, Neonatal hypoglycemia |
OMIM:261740 |
| Hypophosphatemic Rickets |
|
Hypercalcemia, Hyperphosphaturia, Nephrocalcinosis, Hypophosphatemia, Hypocalciuria, Renal phosph... |
ORPHA:437 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hypospadias, Hepatomegaly, Hydronephrosis, Ventricular septal defect, Polysplenia, Right ventricu... |
OMIM:312870 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormality of renal excretion, Hyperphosphaturia, Renal phosphate wasting, Renal hypophosphatemi... |
ORPHA:289176 |
| Nephronophthisis 20 |
|
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:617271 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left vent... |
ORPHA:1457 |
| X-Linked Hypophosphatemia |
|
Hypocalciuria, Renal phosphate wasting, Hypophosphatemia |
ORPHA:89936 |
