| Lipedema |
|
Edema |
OMIM:614103 |
| Angioedema, Hereditary, 6 |
|
Facial edema, Edema of the dorsum of hands, Angioedema |
OMIM:619363 |
| Lymphatic Malformation 11 |
|
Pedal edema, Lymphedema |
OMIM:619401 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:618883 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
| Kaposi Sarcoma, Susceptibility To |
|
Edema |
OMIM:148000 |
| Lymphatic Malformation 14 |
|
Lymphedema |
OMIM:620602 |
| Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241520 |
| Angioedema, Hereditary, 5 |
|
Facial edema, Edema of the dorsum of hands, Angioedema |
OMIM:619361 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Anisocytos... |
OMIM:615631 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... |
ORPHA:766 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Erythroid hyperplasia, Type II diabetes mellitus, Splenomegaly, Anisocytosis,... |
OMIM:616860 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
| Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
| Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Pulmonary edema, Edema |
OMIM:178400 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A... |
ORPHA:86841 |
| Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... |
OMIM:613673 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
| Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate pr... |
OMIM:224120 |
| Rh-Null, Amorph Type |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis |
OMIM:617970 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:2239 |
| Macular Dystrophy, Dominant Cystoid |
|
Edema, Cystoid macular edema |
OMIM:153880 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... |
OMIM:300835 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:193100 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
ORPHA:94090 |
| Orotic Aciduria |
|
Folate-unresponsive megaloblastic anemia, Anisocytosis, Ventricular septal defect, Atrial septal ... |
OMIM:258900 |
| Lymphatic Malformation 8 |
|
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion |
OMIM:618773 |
| Lymphatic Malformation 3 |
|
Lymphedema |
OMIM:613480 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
| White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
| Dent Disease 2 |
|
Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:618913 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:146200 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Rh Deficiency Syndrome |
|
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos... |
ORPHA:71275 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... |
ORPHA:98870 |
| Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level |
OMIM:601198 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia |
OMIM:612089 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
| Lymphatic Malformation 9 |
|
Predominantly lower limb lymphedema |
OMIM:619319 |
| Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
| Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... |
OMIM:616959 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
| Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia |
ORPHA:2611 |
| Dominant Beta-Thalassemia |
|
Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemogl... |
ORPHA:231226 |
| Lymphedema And Cerebral Arteriovenous Anomaly |
|
Lymphedema |
OMIM:152900 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatem... |
ORPHA:157215 |
| Refractory Celiac Disease |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Anemia, Hypoglycemia |
OMIM:618838 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Anisocytos... |
OMIM:301310 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Elevated hemoglobin A1c, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:618618 |
| Lymphatic Malformation 7 |
|
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Anisocytosis |
OMIM:604273 |
| Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia |
OMIM:134600 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatosplenomegaly, Leukocytosis, Reticulocytosis, Anisocytosis, Cardiom... |
OMIM:618278 |
| Hemochromatosis, Type 4 |
|
Cardiomyopathy, Glucose intolerance, Anemia, Hepatomegaly, Diabetes mellitus, Impaired glucose to... |
OMIM:606069 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Glucose intolerance, Splenomegaly |
ORPHA:75563 |
| Blue Diaper Syndrome |
|
Hypercalcemia, Hyperphosphatemia |
ORPHA:94086 |
| Colchicine Poisoning |
|
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con... |
ORPHA:31824 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241530 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypophosphatemia, Hypocalcemia |
OMIM:600081 |
| Cystinosis |
|
Hypokalemia, Hypophosphatemia |
ORPHA:213 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia |
OMIM:264700 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Neonatal death |
OMIM:614096 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating free fatty acid level, Hypophosphatemia |
OMIM:605911 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp... |
OMIM:619743 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:307800 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Hypophosphatemia |
OMIM:616026 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypophosphatemia, Hypercalcemia |
OMIM:600740 |
| Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia |
OMIM:613388 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Anemia, Cardiomegaly, Thrombocytopenia |
ORPHA:858 |
| Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Edema |
OMIM:610158 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Hypocalcemic seizures, Hypophosphatemia |
OMIM:277440 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:300554 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp... |
OMIM:227810 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Hepatomegaly, Hypoketotic hypoglycemia, Dilated cardiomyopathy |
OMIM:600649 |
| Yellow Nail Syndrome |
|
Predominantly lower limb lymphedema, Lymphedema |
OMIM:153300 |
| Hyperparathyroidism, Neonatal Severe |
|
Hypophosphatemia, Hypercalcemia, Calcinosis |
OMIM:239200 |
| Oncogenic Osteomalacia |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
ORPHA:36913 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... |
OMIM:618052 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Hypercalcemia |
OMIM:156400 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... |
ORPHA:860 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... |
OMIM:265300 |
| Hemochromatosis, Type 1 |
|
Cardiomyopathy, Glucose intolerance, Splenomegaly, Cardiomegaly, Hepatomegaly, Diabetes mellitus |
OMIM:235200 |
| Fanconi-Bickel Syndrome |
|
Hypophosphatemia, Hypertriglyceridemia |
ORPHA:2088 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia |
ORPHA:289157 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia |
OMIM:127000 |
| Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H... |
ORPHA:411634 |
| Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, ... |
OMIM:212140 |
| Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hypophosphatemia, Hyperuricemia |
ORPHA:469 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
| Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly |
OMIM:269920 |
| Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
ORPHA:94089 |
| Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia |
OMIM:612462 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Hypoglycemia |
OMIM:614702 |
| Dent Disease 1 |
|
Hypophosphatemia |
OMIM:300009 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Hypophosphatemia, Azotemia |
OMIM:104200 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia |
ORPHA:405 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Sickle Cell Disease |
|
Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Target cell... |
OMIM:603903 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase |
ORPHA:99845 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
| Infantile Nephropathic Cystinosis |
|
Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia |
ORPHA:411629 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly |
ORPHA:615 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi... |
ORPHA:3337 |
| Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
| Neuraminidase Deficiency |
|
Cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foa... |
OMIM:256550 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Hypomagnesemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated c... |
ORPHA:79102 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:241410 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hypercalcemia, Hyperphosphatemia, Calcinosis |
OMIM:211900 |
| Timothy Syndrome |
|
Hypoglycemia, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Cardiomegaly |
OMIM:601005 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Left atrial e... |
OMIM:300280 |
| Fibrous Dysplasia Of Bone |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:249 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Anemia, Leukocytosis, Congenital thrombocytopenia |
OMIM:618886 |
| Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hypercalcemia, Hyperphosphatemia |
OMIM:617994 |
| Mody |
|
Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Glucose ... |
ORPHA:552 |
| Long-Olsen-Distelmaier Syndrome |
|
Dilated cardiomyopathy, Secundum atrial septal defect, Hypoglycemia, Ventricular septal defect, C... |
OMIM:620609 |
| Neurooculocardiogenitourinary Syndrome |
|
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:618652 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
| Raine Syndrome |
|
Hypophosphatemia |
OMIM:259775 |
| Mccune-Albright Syndrome |
|
Hypophosphatemia |
ORPHA:562 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Hypomagnesemia, Hypophosphatemic rickets, Hypokale... |
OMIM:219800 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Pericardial constriction, Myocardial fibrosis |
OMIM:253250 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
| Congenital Erythropoietic Porphyria |
|
Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Thrombocytopenia,... |
ORPHA:79277 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly |
OMIM:252920 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia |
ORPHA:99931 |
| Ciliary Dyskinesia, Primary, 53 |
|
Polysplenia, Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricul... |
OMIM:620642 |
| Pearson Syndrome |
|
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hypophosphatemia, Hyperalaninemia |
ORPHA:699 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... |
OMIM:115197 |
| Lymphatic Malformation 6 |
|
Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Genital edema, Pleural effusio... |
OMIM:616843 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly, Hypoglycemia |
ORPHA:42 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly |
OMIM:619051 |
| Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin... |
ORPHA:94093 |
| Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... |
OMIM:231005 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia |
ORPHA:534 |
| Fructose Intolerance, Hereditary |
|
Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Bicarbonaturia |
OMIM:229600 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:99880 |
| Parathyroid Carcinoma |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:143 |
| Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Hypoglycemia |
ORPHA:391428 |
| Cantu Syndrome |
|
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion |
OMIM:239850 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Cardiomegaly, Nonketotic hypoglycemia, Hypertrophic cardiomyopathy |
OMIM:201475 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... |
ORPHA:2041 |
| Dent Disease |
|
Renal hypophosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:1652 |
| Malignant Hyperthermia Of Anesthesia |
|
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise |
ORPHA:423 |
| Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... |
ORPHA:1457 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Hyperglycemia, Splenomegaly, Cardiomegaly, Hepatomegaly, Diabetes mellitus |
ORPHA:465508 |
| Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal hypophosphatemia, Hypophosphatemic rickets |
ORPHA:289176 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:667 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... |
OMIM:306955 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hypoketotic hypoglycemia, Cardiomegaly |
OMIM:255120 |
| X-Linked Hypophosphatemia |
|
Hypophosphatemia |
ORPHA:89936 |
| Pseudohypoparathyroidism Type 1C |
|
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures |
ORPHA:79444 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Splenomegaly, Neonatal death, Cardiomegaly, Anemia, Thrombocytopenia, Hepatom... |
OMIM:608013 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Cardiomegaly, Mitral valve prolapse, Abnormal atrioventricular valve morph... |
ORPHA:324410 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect |
OMIM:616897 |
| Refsum Disease, Classic |
|
Cardiomegaly, Cardiomyopathy |
OMIM:266500 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Type I diabetes mellitus, Hepatosplenomegaly, Splenomegaly, Mitral valve prolapse, Ventricular se... |
OMIM:602782 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia |
OMIM:101800 |
| Pseudohypoparathyroidism Type 1A |
|
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures |
ORPHA:79443 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... |
ORPHA:363705 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Cirrhotic Cardiomyopathy |
|
Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial e... |
ORPHA:57777 |
| Mogs-Cdg |
|
Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Thrombocyto... |
ORPHA:79330 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Hypoglycemia, Cardiomegaly, Nonketotic hypoglycemia, Hepatomegaly, Enlarg... |
OMIM:608836 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia |
ORPHA:93325 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial... |
OMIM:261740 |
| Congenital Disorder Of Glycosylation, Type It |
|
Dilated cardiomyopathy, Hypoglycemia, Ventricular septal defect, Cardiomegaly, Hepatomegaly |
OMIM:614921 |
| Hypomagnesemia 3, Renal |
|
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi... |
OMIM:248250 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... |
ORPHA:1329 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Danon Disease |
|
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... |
OMIM:300257 |
| Double Outlet Left Ventricle |
|
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atresia, Doubl... |
ORPHA:3427 |
| Sandhoff Disease |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
OMIM:268800 |
| Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect |
OMIM:617022 |
| Amyloidosis, Hereditary Systemic 1 |
|
Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cardiomyopathy, Hypoketotic hypoglycemia, Cardiomegaly, Abnormal myocardium morphology, Hepatomegaly |
ORPHA:228308 |
| Naxos Disease |
|
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... |
OMIM:601214 |
| Exercise-Induced Malignant Hyperthermia |
|
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
| Hemorrhagic Fever-Renal Syndrome |
|
Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia |
ORPHA:340 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... |
OMIM:245600 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... |
OMIM:620066 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology |
ORPHA:1517 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:308552 |
| Abetalipoproteinemia |
|
Acanthocytosis, Reticulocytosis, Cardiomegaly, Anemia, Hepatomegaly |
ORPHA:14 |
| Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... |
ORPHA:1478 |
| Fucosidosis |
|
Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly |
OMIM:230000 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
| Ogden Syndrome |
|
Secundum atrial septal defect, Polycythemia, Patent foramen ovale, Ventricular septal defect, Car... |
OMIM:300855 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Cardiomegaly, Ventricular septal defect |
ORPHA:96191 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Cardiomegaly, Increased T cell count, Anemia, Thr... |
OMIM:620376 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:208000 |
| Truncus Arteriosus |
|
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Truncus arterios... |
ORPHA:3384 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly |
OMIM:620306 |
| Mucopolysaccharidosis Type 3 |
|
Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve morphology, Cardiomegaly, A... |
ORPHA:581 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Right ventricular hypertrophy |
ORPHA:268 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:232300 |
| Congenital Tracheomalacia |
|
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... |
ORPHA:95430 |
| Mucolipidosis Ii Alpha/Beta |
|
Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Enlarged kidney |
OMIM:252500 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Cardiomega... |
ORPHA:51 |
| Absence Of The Pulmonary Artery |
|
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... |
ORPHA:980 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cardiomegaly, Hypoglycemia, Ventricular septal defect |
ORPHA:137675 |
| Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Cardiomyopathy, Cardiomegaly, Hepatomegaly, Neonatal hypoglycemia, Enlarg... |
OMIM:130650 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation, Right ventricular... |
ORPHA:1677 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Microcytic anemia, Splenomegaly, Cardiomegaly, Thrombocytopenia, Hepatomegaly, Impaired glucose t... |
OMIM:256040 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Cardiomegaly, Splenic cyst, Patent foramen ovale |
OMIM:620371 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... |
OMIM:300967 |
| Liver Disease, Severe Congenital |
|
Dilatation of the ventricular cavity, Leukopenia, Splenomegaly, Patent foramen ovale, Ventricular... |
OMIM:619991 |
| Beckwith-Wiedemann Syndrome |
|
Visceromegaly, Polycythemia, Hypoglycemia, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegal... |
ORPHA:116 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve |
ORPHA:91387 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... |
ORPHA:99125 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy |
ORPHA:365 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Abnormal cardiac septum morphology |
ORPHA:97297 |
| Tropical Endomyocardial Fibrosis |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car... |
ORPHA:75565 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Williams Syndrome |
|
Hypertrophic cardiomyopathy, Tetralogy of Fallot, Type II diabetes mellitus, Mitral valve prolaps... |
ORPHA:904 |
| Yunis-Varon Syndrome |
|
Cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial septal defect |
ORPHA:3472 |
| Singleton-Merten Syndrome 1 |
|
Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Mitral valve calcification, Subv... |
OMIM:182250 |
| Generalized Arterial Calcification Of Infancy |
|
Cardiomegaly, Ventricular hypertrophy, Pericardial effusion, Myocardial calcification |
ORPHA:51608 |
| Familial Afibrinogenemia |
|
Joint swelling |
ORPHA:98880 |
| Afibrinogenemia, Congenital |
|
Splenic rupture, Neonatal death |
OMIM:202400 |
| Familial Dysfibrinogenemia |
|
|
ORPHA:98881 |
| Familial Hypofibrinogenemia |
|
|
ORPHA:101041 |
