Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi... |
OMIM:617994 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Pseudopseudohypoparathyroidism |
|
Ectopic ossification, Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Craniosynostosis, Cardiomegaly |
ORPHA:88643 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemi... |
ORPHA:36913 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
Calciphylaxis |
|
Ectopic ossification, Hyperphosphatemia |
ORPHA:280062 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Fatigable weakness of swallowing muscles, Hyperpho... |
ORPHA:99845 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperostosis, Subperiosteal bone formation, Hyperphosphatemia |
OMIM:211900 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Osteoporosis, Hypocalcemia |
OMIM:612462 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Hypophosphatemia |
OMIM:146350 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia, Osteoporosis, Subcutaneous ossification |
OMIM:103580 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:193100 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Hyperphosphatemia, Hypocalcemia... |
ORPHA:94089 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Hydroxyprolinemia, Osteoporosis, Hyperphosphatemia, H... |
OMIM:239000 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia, Cardiomyocyte mitochond... |
ORPHA:423 |
Autosomal Dominant Hypocalcemia |
|
Reduced bone mineral density, Fatigable weakness, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Thic... |
OMIM:127000 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Osteoporosis, Hypophosphatemia |
OMIM:612287 |
Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia, Patchy osteosclerosis |
ORPHA:2323 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Osteoporosis, Hypophosphatemia |
OMIM:612286 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia... |
ORPHA:94093 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany,... |
ORPHA:79444 |
Familial Isolated Hyperparathyroidism |
|
Osteopenia, Hypercalcemia, Generalized osteoporosis, Hypophosphatemia |
ORPHA:99879 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly |
OMIM:619170 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Increased bone mineral density, Reduced bone mineral density, Hyperostosis frontalis ... |
ORPHA:79443 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Rickets, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Calvarial hyperostosis, Epiphyseal stippling, Hyperphosphatemia, Neonatal epiphyseal stippling |
OMIM:101800 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteomalacia, Bone cyst, Osteolysis, Hypocalcemia, Hypophosphatemia, Abnormal bone structure, Coa... |
ORPHA:93160 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration, Reduced bone miner... |
ORPHA:157215 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Hyperphosphatemia, Hypocalcemic tetany, Decreased sku... |
ORPHA:93325 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcemia, Hypophosphatemia,... |
OMIM:600081 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia |
OMIM:300555 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Infantile Sialic Acid Storage Disease |
|
Osteopenia, Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly |
OMIM:269920 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Abnormal circulating calcium concentration, Delayed epiphyseal ossification, Rickets, Sparse bone... |
OMIM:241530 |
Linear Verrucous Nevus Syndrome |
|
Reduced bone mineral density, Hypophosphatemia |
ORPHA:2611 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemia,... |
OMIM:300554 |
Refractory Celiac Disease |
|
Hypomagnesemia, Osteoporosis, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... |
OMIM:300280 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Increased circulating ferritin concentration, Splenomegaly, Osteoporo... |
OMIM:235200 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, F... |
ORPHA:42 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:134600 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcemia,... |
OMIM:264700 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Hyperalaninemia, Hyperprolinemia, Cardiomegaly |
OMIM:619064 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:618838 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:618913 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:613388 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, C... |
OMIM:212140 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Hypouricemia, Rickets, Hypophosphatemia |
OMIM:616026 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:614702 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae,... |
ORPHA:289157 |
Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphate... |
OMIM:277440 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Abnormal circulating calcium concentration, Rickets, Hypophosphatemia, Hypophosphat... |
OMIM:307800 |
Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... |
ORPHA:85451 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:619051 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Colchicine Poisoning |
|
Hyponatremia, Myocarditis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypoc... |
ORPHA:31824 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Hypokalemia, Hypergalactosem... |
OMIM:227810 |
Cystinosis |
|
Hypokalemia, Rickets, Hypophosphatemia |
ORPHA:213 |
Dent Disease 1 |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemia,... |
OMIM:300009 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Thickened cortex of lo... |
OMIM:253250 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Hepatomegaly, Hypertriglyceridemia, Rickets, Hypophosphatemia |
ORPHA:2088 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha... |
OMIM:619743 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Cardiomegal... |
ORPHA:57777 |
Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent foramen ovale |
OMIM:601005 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration |
ORPHA:340 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Asymmetric septal hypertrophy, Dense calvaria |
OMIM:252920 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia, Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Osteomalacia, Hypercalcemia, Fibrous dysplasia of the bones, Rickets, Osteolysi... |
ORPHA:249 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Hypophosphatemia |
OMIM:239200 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... |
OMIM:201475 |
Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Epiphyseal stippling, Cardiomyopathy |
OMIM:256550 |
Oncogenic Osteomalacia |
|
Fibrous dysplasia of the bones, Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Osteoporosis, Congenital hypertrophy o... |
OMIM:239850 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, L... |
OMIM:617713 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cardiomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
ORPHA:465508 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Refsum Disease, Classic |
|
Cardiomyopathy, Elevated circulating phytanic acid concentration, Cardiomegaly |
OMIM:266500 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Mccune-Albright Syndrome |
|
Osteomalacia, Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia, Aneurysmal bone cyst... |
ORPHA:562 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... |
ORPHA:289176 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Abnormal pulmonary valve morphology, Craniosynostosis, Splenomegaly, Reduced bone m... |
ORPHA:667 |
Dent Disease |
|
Renal hypophosphatemia, Osteomalacia, Elevated circulating creatine kinase concentration, Delayed... |
ORPHA:1652 |
Danon Disease |
|
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... |
OMIM:300257 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly |
ORPHA:391428 |
Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Cardiomegaly |
OMIM:618886 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Ventricular septal defect, Cardiomegaly, Hypertrophic cardiomyopathy, Decreased skull... |
OMIM:616897 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypophosphatemic rickets, Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:228308 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
OMIM:608836 |
Infantile Nephropathic Cystinosis |
|
Hypokalemia, Rickets, Abnormal blood ion concentration, Hypophosphatemia |
ORPHA:411629 |
Raine Syndrome |
|
Neonatal death, Increased bone mineral density, Subperiosteal bone formation, Hypophosphatemia |
OMIM:259775 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... |
OMIM:232300 |
Craniofaciofrontodigital Syndrome |
|
Osteopenia, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:363705 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper conce... |
OMIM:620306 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Osteomalacia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating ... |
ORPHA:3337 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Delayed epiphyseal ossification, Cardiomegaly |
OMIM:613320 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Hypocalcemic seizures |
ORPHA:405 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Rickets, Reduced bone mineral density, Hypophosphat... |
ORPHA:89936 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ... |
ORPHA:308552 |
Pearson Syndrome |
|
Hepatomegaly, Hypomagnesemia, Splenomegaly, Abnormal heart morphology, Cardiomyopathy, Hypokalemi... |
ORPHA:699 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Elevated circulating creatine kinase concentration, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
Cystinosis, Nephropathic |
|
Hyponatremia, Hepatomegaly, Splenomegaly, Rickets, Reduced blood urea nitrogen, Hypophosphatemia,... |
OMIM:219800 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Card... |
OMIM:614921 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... |
ORPHA:79102 |
Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
Alport Syndrome 3A, Autosomal Dominant |
|
Azotemia, Hypophosphatemia |
OMIM:104200 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Osteoporosis, Cardiomegaly |
ORPHA:1517 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Bicuspid aortic valve, Craniosynostosis, Cardiomegaly, Osteoporosis, Mitral valve pro... |
OMIM:245600 |
Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Cardiomegaly, Decreased LDL ch... |
ORPHA:14 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Osteoporosis, Fat... |
ORPHA:365 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Osteoporosis, Hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
Parathyroid Carcinoma |
|
Osteoporosis, Hypercalcemia, Hypophosphatemia |
ORPHA:143 |
Fructose Intolerance, Hereditary |
|
Hepatomegaly, Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia |
OMIM:229600 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Neonatal death |
OMIM:608013 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Abnormal bone ossification, Cardiomegaly |
ORPHA:2463 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Osteomalacia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia |
ORPHA:534 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy |
ORPHA:79330 |
Fucosidosis |
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Hepatomegaly, Cardiomegaly |
ORPHA:349 |
Mucopolysaccharidosis Type 3 |
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Hepatomegaly, Craniofacial hyperostosis, Cardiomegaly, Splenomegaly, Reduced bone mineral density... |
ORPHA:581 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Lethal Congenital Contracture Syndrome 10 |
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Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
Mucolipidosis Ii Alpha/Beta |
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Osteopenia, Hepatomegaly, Increased serum beta-hexosaminidase, Craniosynostosis, Cardiomegaly, Sp... |
OMIM:252500 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
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Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... |
OMIM:602782 |
Lethal Acantholytic Erosive Disorder |
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Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
Sickle Cell Disease |
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Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:603903 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Unconjugated hyperbiliru... |
OMIM:618278 |
Developmental And Epileptic Encephalopathy 95 |
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Hepatomegaly, Cardiomegaly |
OMIM:618143 |
Liver Disease, Severe Congenital |
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Hyponatremia, Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Elevated circulat... |
OMIM:619991 |
Absence Of The Pulmonary Artery |
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Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
Congenital Tracheomalacia |
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Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
Truncus Arteriosus |
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Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Fucosidosis |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:230000 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
Tropical Endomyocardial Fibrosis |
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Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
Ogden Syndrome |
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Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... |
OMIM:300855 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... |
OMIM:300967 |
Congenital Total Pulmonary Venous Return Anomaly |
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Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Williams Syndrome |
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Abnormal endocardium morphology, Osteopenia, Increased bone mineral density, Overriding aorta, Bi... |
ORPHA:904 |
Histiocytoid Cardiomyopathy |
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Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:137675 |
Bohring-Opitz Syndrome |
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Abnormal cardiac septum morphology, Cardiomegaly |
ORPHA:97297 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating... |
OMIM:256040 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Cardiomegaly, Splenomegaly, H... |
ORPHA:116 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney |
OMIM:130650 |
Yunis-Varon Syndrome |
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Absent sternal ossification, Ventricular septal defect, Cardiomegaly, Decreased skull ossificatio... |
ORPHA:3472 |
Generalized Arterial Calcification Of Infancy |
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Ventricular hypertrophy, Osteomalacia, Cardiomegaly, Pericardial effusion, Myocardial calcificati... |
ORPHA:51608 |
Aicardi-Goutières Syndrome |
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Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:51 |
Singleton-Merten Syndrome 1 |
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Osteopenia, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Osteoporosis, O... |
OMIM:182250 |