| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density, Diabetes mellitus |
OMIM:602475 |
| Melorheostosis With Osteopoikilosis |
|
Hypertension, Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
| Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong... |
OMIM:604765 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Hypokalem... |
OMIM:620152 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Hyperinsulinemia |
OMIM:618406 |
| Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
| Flynn-Aird Syndrome |
|
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... |
OMIM:136300 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
| Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Pulmonary embolism... |
ORPHA:94093 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Hyperkalemia, Elevated circulating creatinine... |
OMIM:620366 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
| Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
| Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... |
ORPHA:210110 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni... |
OMIM:615751 |
| Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... |
ORPHA:2485 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Arrhythmia |
OMIM:616949 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Hypoglycemia, Hypera... |
ORPHA:3008 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia, Hypoglycemic seizures, Hypotension, Neonatal hypoglycemia |
ORPHA:199296 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Schnitzler Syndrome |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Vasculitis, Arthritis |
ORPHA:37748 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration |
OMIM:109130 |
| Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Increased bone mineral density, Ventricular arrhythmia, Abnormal left vent... |
ORPHA:36913 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:240200 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia, Pulmonic stenosis, Multiple muscular ventricular septal defects |
OMIM:615508 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension |
OMIM:620125 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia, Hypovolemia |
ORPHA:223 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Increased bone mineral density, Recurrent fractures, Splenomegaly, Osteopetrosis |
OMIM:611490 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
| Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Flexi... |
ORPHA:682 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Shock, Abnormal heart morphology, Bradycardia, Hypotension, Abnormal glucose homeos... |
ORPHA:391673 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
| Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral is... |
ORPHA:449285 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension |
OMIM:203400 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Craniosynostosis, Splenomegaly, Oste... |
OMIM:259700 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
| Colchicine Poisoning |
|
Hyponatremia, Congestive heart failure, Myocarditis, Hypovolemia, Abnormal blood ion concentratio... |
ORPHA:31824 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Elevated systolic blood pressure, Decreased serum crea... |
OMIM:300539 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Osteomyelitis, Hyperkalemia, Hypovolemic shock, Increased circulating renin level, ... |
ORPHA:171876 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotension |
ORPHA:556037 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Cardiomegaly, Increased circulating ferritin concentration, Cong... |
OMIM:235200 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hypotension |
OMIM:264350 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Craniosynostosis, Cardiomegaly |
ORPHA:88643 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension |
OMIM:177735 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level, Hypotension |
ORPHA:556030 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:614736 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
| Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... |
ORPHA:53 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Secundum atrial septal defect, Hypoglycemia |
OMIM:608688 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Diabetes mellitus, Hypomagnesemia, Hyperuricemia, Increased blood urea nitrogen, Pu... |
OMIM:613845 |
| Cholera |
|
Hyponatremia, Tachycardia, Hypoglycemia, Abnormal blood ion concentration, Hypovolemic shock, Hyp... |
ORPHA:173 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
| Whipple Disease |
|
Hyponatremia, Gastrointestinal hemorrhage, Pericarditis, Hepatomegaly, Myocardial infarction, Myo... |
ORPHA:3452 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Orthostatic hypotension, Hypoglycemia, Hypercalcemia, Hyperkalemia, Hyperuricemia, ... |
ORPHA:199299 |
| Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
| Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Prolonged QT interval, Increased bone mineral density, Diaphyseal sclerosis, Hyperpho... |
ORPHA:94089 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Osteomalacia, Elevated circulating C-reactive protein concentration, Splenomegaly,... |
OMIM:619381 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... |
ORPHA:85451 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Hypotension |
ORPHA:91354 |
| Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Ventricular septal defect, Recurrent f... |
ORPHA:1782 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... |
ORPHA:90650 |
| Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
| Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
| Gaucher Disease Type 1 |
|
Osteopenia, Hepatomegaly, Increased bone mineral density, Pericardial effusion, Abnormal myocardi... |
ORPHA:77259 |
| Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
| Fixed Subaortic Stenosis |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Angina pectoris, Bicuspid aortic valve, Ven... |
ORPHA:3092 |
| Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Ventricular tachyca... |
OMIM:601005 |
| Hereditary Coproporphyria |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Tachycardia |
ORPHA:79273 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Hydroxyprolinemia, Os... |
OMIM:239000 |
| Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca... |
ORPHA:860 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
| Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Increased circulating NT-p... |
ORPHA:57777 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Hepatomegaly, Osteopetrosis |
OMIM:615085 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, Sudden cardiac ... |
OMIM:115197 |
| Legionnaires Disease |
|
Hyponatremia, Pericarditis, Myocarditis, Splenomegaly, Endocarditis, Hypotension, Arrhythmia |
ORPHA:549 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... |
OMIM:259710 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Diabetes mellitus, Portal hypertension, Joint stiffness, Cardiomegaly, Increased ci... |
ORPHA:465508 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Hypoalb... |
ORPHA:1667 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Epistaxis, Splenomegaly, Hepatosplenomegaly, Osteopetrosis |
OMIM:612840 |
| Diastrophic Dysplasia |
|
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness |
ORPHA:628 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Osteopenia, Hyponatremia, Calcinosis, Splenomegaly, Hypertension, Hypokalemia, Hypocalcemia |
OMIM:617913 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:300971 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hypovolemia, Hyperkalemia, Increased circulating renin lev... |
ORPHA:427 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Ketotic hypoglycemia, Hyperkalemia, Hypoglycemic seizures, Hypotension, Hypertrophi... |
ORPHA:361 |
| Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... |
OMIM:614856 |
| Infant Botulism |
|
Hyponatremia, Hypertension, Cardiac arrest, Hypotension |
ORPHA:178478 |
| Hartsfield Syndrome |
|
Hypernatremia, Craniosynostosis |
OMIM:615465 |
| Familial Dysautonomia |
|
Hyponatremia, Orthostatic hypotension, Tachycardia, Recurrent fractures, Osteolysis, Hypertension |
ORPHA:1764 |
| Mirage Syndrome |
|
Hyponatremia, Hypoglycemia, Radial club hand, Hyperkalemia, Intracranial hemorrhage |
OMIM:617053 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification |
ORPHA:163649 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... |
ORPHA:85188 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
| Majeed Syndrome |
|
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Splenomegaly, Flexion contracture, S... |
ORPHA:77297 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... |
OMIM:618858 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Congestive heart failure, Ar... |
ORPHA:247353 |
| Werner Syndrome |
|
Increased bone mineral density, Telangiectasia of the skin, Myocardial infarction, Joint stiffnes... |
ORPHA:902 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... |
ORPHA:100924 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Retinal telangiectasia |
OMIM:620157 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... |
ORPHA:93284 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Aortic valve stenosis, Osteopetrosis, Facial hyperostosis, Coarse... |
ORPHA:2780 |
| Acute Adrenal Insufficiency |
|
Hyponatremia, Orthostatic hypotension, Hypoglycemia, Hypercalcemia, Myocardial infarction, Hyperk... |
ORPHA:95409 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Hypertension, Hyperkalemia, Glycosuria |
ORPHA:97362 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, S... |
OMIM:603553 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Osteoporosis, Hypovolemia, Reduced bone mineral density, Abnormal cir... |
ORPHA:168558 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Cranial hyperostosis, Hepatosplenomeg... |
OMIM:259720 |
| Alg12-Cdg |
|
Hyponatremia, Patent foramen ovale, Muscular ventricular septal defect, Biventricular hypertrophy... |
ORPHA:79324 |
| Addison Disease |
|
Hyponatremia, Orthostatic hypotension, Hypoglycemia, Hypercalcemia, Hyperkalemia, Increased circu... |
ORPHA:85138 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Hyperkalemia, Osteoporosis, Hypovolemia, Reduced bone mineral density, Abnormal cir... |
ORPHA:289548 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... |
OMIM:606176 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis |
OMIM:617306 |
| Alg8-Cdg |
|
Hyponatremia, Camptodactyly |
ORPHA:79325 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... |
ORPHA:289176 |
| Gaucher Disease Type 3 |
|
Hepatomegaly, Increased bone mineral density, Mitral valve calcification, Abnormal heart valve mo... |
ORPHA:77261 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... |
OMIM:604367 |
| Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Thic... |
OMIM:127000 |
| Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
| Porphyria Variegata |
|
Hyponatremia, Abnormal circulating porphyrin concentration, Tachycardia, Hypertension |
ORPHA:79473 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension, Neonatal hypoglycemia |
ORPHA:90791 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Hematochezia, Hypoalbuminemia, Hypocalc... |
OMIM:618183 |
| Danon Disease |
|
Wolff-Parkinson-White syndrome, Myocardial necrosis, Elevated circulating creatine kinase concent... |
OMIM:300257 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia |
OMIM:214700 |
| Poems Syndrome |
|
Sclerosis of hand bone, Diabetes mellitus, Sclerosis of foot bone, Pericardial effusion, Sclerosi... |
ORPHA:2905 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
| Shigellosis |
|
Hyponatremia, Hypoglycemia, Myocarditis, Abnormal blood ion concentration, Arthritis, Hypovolemic... |
ORPHA:810 |
| Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... |
ORPHA:439 |
| Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Increased bone mineral density, Raynaud phenomenon, Arterial occlusion, Atrioventr... |
OMIM:259900 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Cerebral vasculitis |
ORPHA:83601 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... |
OMIM:112250 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypovolemia, Glycosuri... |
ORPHA:411634 |
| Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
| Gaucher Disease |
|
Osteopenia, Hepatomegaly, Increased bone mineral density, Osteomyelitis, Mitral valve calcificati... |
ORPHA:355 |
| Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Generalized osteosclerosis, Increased susceptibilit... |
ORPHA:763 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Splenomegaly, Hepatomegaly, Osteopetrosis |
OMIM:618541 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Prolonged QT interval, Increased bone mineral density, Hyperphosphatemia, Hypocalcemi... |
ORPHA:79444 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
| Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density |
ORPHA:3352 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... |
OMIM:615812 |
| Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Prolonged QT interval, Increased bone mineral density, Reduced bone mineral density, ... |
ORPHA:79443 |
| Sheehan Syndrome |
|
Hyponatremia, Orthostatic hypotension, Hypoglycemia, Palpitations, Bradycardia |
ORPHA:91355 |
| Pituitary Apoplexy |
|
Hyponatremia, Hypertension, Hypoglycemia, Hypotension |
ORPHA:95613 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopetrosis, H... |
OMIM:618476 |
| Rabin-Pappas Syndrome |
|
Tracheomalacia, Hyponatremia, Retinal telangiectasia |
OMIM:620155 |
| Atypical Werner Syndrome |
|
Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Hyperglycemia, In... |
ORPHA:79474 |
| Cystinosis, Nephropathic |
|
Hyponatremia, Hepatomegaly, Diabetes mellitus, Splenomegaly, Rickets, Reduced blood urea nitrogen... |
OMIM:219800 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... |
OMIM:224300 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hepatomegaly, Elevated circulating creatine kinase concentration, Dilated cardiomyo... |
OMIM:610505 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
ORPHA:90790 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
| Desmosterolosis |
|
Splenomegaly, Increased bone mineral density, Osteopetrosis, Anomalous pulmonary venous return |
ORPHA:35107 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemic seizures, Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia |
OMIM:241410 |
| Holoprosencephaly |
|
Hyponatremia, Diabetes mellitus, Ventricular septal defect, Abnormal pulmonary valve morphology, ... |
ORPHA:2162 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:613090 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... |
ORPHA:1677 |
| Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Abnormal pericardium morphology, Congestive heart ... |
ORPHA:35687 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Diabetes mellitus, Myocarditis, Hyperkalemia, Hypertension, Hypocalcemia, Septic ar... |
ORPHA:544482 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia |
OMIM:300200 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:618838 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Recurrent hypoglycemia, Hyperkalemia, Hypotension |
ORPHA:293978 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hypertension, Hyperglycemia, Osteoporosis |
OMIM:615954 |
| Primary Hyperoxaluria |
|
Hyperoxaluria, Recurrent fractures, Heart block, Generalized osteosclerosis, Raynaud phenomenon, ... |
ORPHA:416 |
| Camurati-Engelmann Disease |
|
Sclerosis of skull base, Cortical thickening of long bone diaphyses, Increased bone mineral densi... |
OMIM:131300 |
| Dysostosis, Stanescu Type |
|
Massively thickened long bone cortices, Increased bone mineral density |
ORPHA:1798 |
| Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Abnormal heart valve morphology, Camptodactyly of finger, Tarsal ... |
ORPHA:90652 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly |
OMIM:259730 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Neonatal hypoglycemia, Left axis deviation, Cardiomegaly, Congestive heart... |
OMIM:261740 |
| X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ... |
ORPHA:89936 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Myocardial infarction, Elevated circulating creatinine concentration, Hypertension,... |
ORPHA:90038 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Ankylosis, Congestive heart failure, Dilated cardiomyopathy,... |
OMIM:208000 |
| 12Q14 Microdeletion Syndrome |
|
Osteopoikilosis, Diabetes mellitus |
ORPHA:94063 |
| Liver Disease, Severe Congenital |
|
Cardiomegaly, Abnormal left ventricular function, Hypocalcemia, Elevated hepatic iron concentrati... |
OMIM:619991 |
| Schwartz-Jampel Syndrome |
|
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion ... |
ORPHA:800 |
| Acute Intermittent Porphyria |
|
Hyponatremia, Hypertension, Tachycardia |
ORPHA:79276 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Hypovolemia, Hyperkalemia, Hepatosplenomegaly, Pulmonary arte... |
ORPHA:275761 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Calcinosis, Hepatomegaly, Impaired glucose tolerance, Joint stiffness, Hyperlipidemia... |
OMIM:248370 |
| Adenohypophysitis |
|
Hyponatremia, Orthostatic hypotension |
ORPHA:95512 |
| Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
| Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Ventricular septal defec... |
ORPHA:33364 |
| Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypertriglyceridemia, Epistaxis, Pericardial effusion, Increased circulating ferrit... |
ORPHA:167 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
| Desmosterolosis |
|
Generalized osteosclerosis, Abnormal circulating cholesterol concentration, Total anomalous pulmo... |
OMIM:602398 |
| Panhypophysitis |
|
Hyponatremia, Orthostatic hypotension |
ORPHA:95513 |
| Raine Syndrome |
|
Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal bone formation,... |
OMIM:259775 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Recurrent fractures, Craniosynostosis, Abnormal pulmonary valve morphology, Splenom... |
ORPHA:667 |
| Japanese Encephalitis |
|
Hyponatremia, Stiff neck, Elbow flexion contracture |
ORPHA:79139 |
| Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia, Patchy osteosclerosis |
ORPHA:2323 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly, Osteopetrosis, Hypocalcemic seiz... |
OMIM:612301 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Enlarged ovaries, Abnormal circulating fatty-acid conce... |
ORPHA:2298 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Osteopetrosis |
ORPHA:3240 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl... |
ORPHA:2658 |
| Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Recurrent fractures, Osteomalacia, Joint stiffness, Hypoammonemia, Joint hyperflexi... |
ORPHA:534 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Hypochloremia, Hypertension, Hypokalemia, Increased circulating renin level, Hypoma... |
ORPHA:89938 |
| Williams Syndrome |
|
Osteopenia, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Myocardial... |
ORPHA:904 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... |
ORPHA:555874 |
| Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia |
OMIM:602522 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Shock, Hypovolemia, Hyperkalemia, Hypochloremia, Hypotension, Neonatal hypoglycemia |
ORPHA:90794 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Hepatosplenomegaly,... |
ORPHA:731 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Hyperkalemia |
OMIM:201810 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyponatremia, Hypoglycemia, Tarsal synostosis, Craniosynostosis, Humeroradial synostosis, Hyperka... |
OMIM:201750 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... |
ORPHA:1457 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperlipidemia, Hyperkalemia, Hyperglycemia |
ORPHA:293987 |
| Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Synostosis of joints |
ORPHA:50945 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia |
OMIM:618426 |
| Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... |
OMIM:119600 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia |
OMIM:618252 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Recurrent fractures, Elevated circulating creatine kinase concentration, Osteopetro... |
ORPHA:2785 |
| Sclerosteosis 1 |
|
Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc... |
OMIM:269500 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Atrial septal defect, Sclerosis of skull base, Increased density of long bones, Thickened cortex ... |
OMIM:269150 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
