| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification, 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 |
|
Joint stiffness, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... |
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 |
| Isolated Osteopoikilosis |
|
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... |
ORPHA:166119 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Ele... |
OMIM:604765 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Dilated cardiomyopathy, Hypomagnesemia, Reduced left ventricular ejection fraction, Hypocalcemia,... |
OMIM:620152 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Hyperinsulinemia |
OMIM:618406 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:2204 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... |
ORPHA:2790 |
| Flynn-Aird Syndrome |
|
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... |
OMIM:136300 |
| Van Buchem Disease |
|
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis |
OMIM:239100 |
| Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone |
ORPHA:564003 |
| Neuroleptic Malignant Syndrome |
|
Hypertensive crisis, Hypotension, Pulmonary embolism, Hyperphosphatemia, Hypomagnesemia, Hypocalc... |
ORPHA:94093 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Cortical sclerosis, Pathologic fracture, Elevated circulating creatinine concentration, Osteopetr... |
OMIM:620366 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Increased bone mineral density |
ORPHA:178377 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:3152 |
| Mueller-Weiss Syndrome |
|
Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A... |
ORPHA:566943 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hyperglutaminemia, Low plasma ci... |
OMIM:615751 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Arrhythmia |
OMIM:616949 |
| Melorheostosis |
|
Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone m... |
ORPHA:2485 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Intermediate Osteopetrosis |
|
Cortical sclerosis, Osteomyelitis, Hepatosplenomegaly, Increased susceptibility to fractures, Abn... |
ORPHA:210110 |
| Pyruvate Carboxylase Deficiency |
|
Neonatal hyperbilirubinemia, Hypoglycemia, Hyperglycemia, Hyperammonemia, Hyperglutamatemia, Hype... |
ORPHA:3008 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros... |
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 |
| Autoimmune Hypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Prolonged QT interval, Ventricular arrhythm... |
ORPHA:36913 |
| Axial Osteomalacia |
|
Increased bone mineral density, Elevated circulating creatine kinase concentration, Osteomalacia |
OMIM:109130 |
| Schnitzler Syndrome |
|
Vasculitis, Splenomegaly, Arthritis, Hepatomegaly, Increased bone mineral density |
ORPHA:37748 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypoalbuminemia, Multiple muscular ventricular septal defects, Hypernatremia, Pulmonic stenosis |
OMIM:615508 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypoglycemia, Hyperglycemia, Hyperglycinemia, Partial atrioventricular canal defect, Hypernatremia |
OMIM:620423 |
| Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia |
ORPHA:35710 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hypotension, Hypoglycemic seizures, Neonatal hypoglycemia |
ORPHA:199296 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:240200 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
| Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia |
ORPHA:529799 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler... |
OMIM:166600 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia, Hypovolemia |
ORPHA:223 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis |
OMIM:613370 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Osteopetrosis, Hepatomegaly, Increased bone mineral density, Recurrent fractures |
OMIM:611490 |
| Hyperkalemic Periodic Paralysis |
|
Congestive heart failure, Elevated circulating creatine kinase concentration, Hypokalemia, Hypona... |
ORPHA:682 |
| Pseudohypoparathyroidism Type 1B |
|
Hyperphosphatemia, Hypocalcemic tetany, Increased bone density with cystic changes, Hypocalcemia,... |
ORPHA:94089 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Snakebite Envenomation |
|
Epistaxis, Hypotension, Cardiogenic shock, Cerebral ischemia, Hyponatremia, Tachycardia, Intracra... |
ORPHA:449285 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Pathologic fracture, Osteomyelitis, Splenomegaly, Hypocalcemia, Femur fracture, Osteopetrosis, Ca... |
OMIM:259700 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
| Colchicine Poisoning |
|
Hypotension, Cardiogenic shock, Congestive heart failure, Hypomagnesemia, Hypocalcemia, Hypokalem... |
ORPHA:31824 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hypovolemic shock, Osteomyelitis, Hyponatremia, Arrhythmia, Hyperkalemia, Increased circulating r... |
ORPHA:171876 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Orthostatic hypotension, Increased circulating renin level |
OMIM:610600 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... |
OMIM:618052 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Thickened cortex of long bones, Clavicul... |
OMIM:144750 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... |
OMIM:614473 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Elevated systolic blood pressure, Decreased circulating renin level, Hyponatremia, Reduced blood ... |
OMIM:300539 |
| Late-Onset Familial Hypoaldosteronism |
|
Hypotension, Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
| Necrotizing Enterocolitis |
|
Hypotension, Abnormal heart morphology, Shock, Hyperglycemia, Abnormal glucose homeostasis, Hypon... |
ORPHA:391673 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Craniosynostosis, Hypoalbuminemia |
ORPHA:88643 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Hemochromatosis, Type 1 |
|
Increased circulating iron concentration, Cardiomyopathy, Congestive heart failure, Increased cir... |
OMIM:235200 |
| Early-Onset Familial Hypoaldosteronism |
|
Hypotension, Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hypotension, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
OMIM:614736 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hypotension, Hyperkalemia |
OMIM:264350 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hypoketotic hypoglycemia, Hyperammonemia, Elevated circulating creatine k... |
OMIM:600649 |
| Aica-Ribosiduria Due To Atic Deficiency |
|
Hyponatremia, Secundum atrial septal defect, Hypoglycemia |
OMIM:608688 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Albers-Schönberg Osteopetrosis |
|
Mandibular osteomyelitis, Osteomyelitis, Hypocalcemia, Generalized osteosclerosis, Arthritis, Ost... |
ORPHA:53 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hypomagnesemia, Hyperuricemia, Hyponatremia, Pulmonary arterial hypertension, Increased blood ure... |
OMIM:613845 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
| Whipple Disease |
|
Insulin resistance, Gastrointestinal hemorrhage, Hypotension, Splenomegaly, Hyponatremia, Arthrit... |
ORPHA:3452 |
| Cholera |
|
Hypovolemic shock, Hypotension, Hypoglycemia, Abnormal blood ion concentration, Hypocalcemia, Hyp... |
ORPHA:173 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Hypoalbuminemia, Osteomalacia, Osteomyelitis, Splenomegaly, Arthritis, Vasculitis in the skin, El... |
OMIM:619381 |
| Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Hypotension |
ORPHA:91354 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... |
ORPHA:85451 |
| Hereditary Coproporphyria |
|
Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration |
ORPHA:79273 |
| Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... |
ORPHA:2041 |
| Dysosteosclerosis |
|
Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Ventricular septal defect, Incre... |
ORPHA:1782 |
| Otopalatodigital Syndrome Type 1 |
|
Synostosis of carpal bones, Limitation of joint mobility, Increased bone mineral density, Abnorma... |
ORPHA:90650 |
| Timothy Syndrome |
|
Atrioventricular block, Hypoglycemia, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ve... |
OMIM:601005 |
| Late-Onset Isolated Acth Deficiency |
|
Hypotension, Type I diabetes mellitus, Hypoglycemia, Hyperuricemia, Hyponatremia, Orthostatic hyp... |
ORPHA:199299 |
| Cirrhotic Cardiomyopathy |
|
Abnormal circulating B-type natriuretic peptide concentration, Congestive heart failure, Fourth h... |
ORPHA:57777 |
| Fixed Subaortic Stenosis |
|
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology... |
ORPHA:3092 |
| Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Fractures of the long bones, Osteolysis |
OMIM:167250 |
| Chondrodysplasia, Blomstrand Type |
|
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis |
OMIM:215045 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Hyperphosphatemia, Increased bone mineral density, Hyperuricemia, Hydroxyprolinemia, ... |
OMIM:239000 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyo... |
OMIM:115197 |
| Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
| Legionnaires Disease |
|
Hypotension, Splenomegaly, Hyponatremia, Arrhythmia, Myocarditis, Endocarditis, Pericarditis |
ORPHA:549 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... |
OMIM:267700 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... |
ORPHA:860 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Osteopetrosis, Splenomegaly |
OMIM:615085 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelitis, Hepatosplenomegaly, Osteopetrosis,... |
OMIM:259710 |
| Familial Glucocorticoid Deficiency |
|
Hypotension, Hypertrophic cardiomyopathy, Hyponatremia, Ketotic hypoglycemia, Hypoglycemic seizur... |
ORPHA:361 |
| Diastrophic Dysplasia |
|
Joint hypermobility, Increased bone mineral density, Joint stiffness, Camptodactyly of finger |
ORPHA:628 |
| Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Neonatal insulin-dependent diabetes mellitus, Hyperbilirubinemia, Hyperammonemia... |
ORPHA:1667 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Epistaxis, Hepatosplenomegaly, Splenomegaly, Osteopetrosis, Hepatomegaly |
OMIM:612840 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Osteopenia, Splenomegaly, Hypocalcemia, Hypokalemia, Hyponatremia, Calcinosis, Hypertension |
OMIM:617913 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Cerebral vasculitis |
ORPHA:83601 |
| Familial Dysautonomia |
|
Osteolysis, Hyponatremia, Orthostatic hypotension, Tachycardia, Hypertension, Recurrent fractures |
ORPHA:1764 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Abnormality of iron homeostasis, Cardiomyopathy, Congestive heart failure, Increased circulating ... |
ORPHA:465508 |
| Familial Hypoaldosteronism |
|
Hypotension, Increased circulating renin level, Hyponatremia, Orthostatic hypotension, Hyperkalem... |
ORPHA:427 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
| Mirage Syndrome |
|
Hypoglycemia, Radial club hand, Hyponatremia, Intracranial hemorrhage, Hyperkalemia |
OMIM:617053 |
| Osteogenesis Imperfecta, Type Xiii |
|
Recurrent fractures, Joint hypermobility, Limitation of knee mobility, Osteoporosis, Reduced bone... |
OMIM:614856 |
| Majeed Syndrome |
|
Osteomyelitis, Splenomegaly, Increased susceptibility to fractures, Synovitis, Hepatomegaly, Incr... |
ORPHA:77297 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Hip osteoarthritis, Limitation of joint mobility, Osteoarthritis of the distal interphalangeal jo... |
ORPHA:93284 |
| Hartsfield Syndrome |
|
Craniosynostosis, Hypernatremia |
OMIM:615465 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Delayed patellar ossification, Abnormal bone ossification |
ORPHA:163649 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o... |
ORPHA:85188 |
| Werner Syndrome |
|
Insulin resistance, Congestive heart failure, Joint stiffness, Type II diabetes mellitus, Myocard... |
ORPHA:902 |
| Infant Botulism |
|
Hyponatremia, Cardiac arrest, Hypotension, Hypertension |
ORPHA:178478 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:616329 |
| Generalized Pustular Psoriasis |
|
Hypoalbuminemia, Congestive heart failure, Hypocalcemia, Hyponatremia, Arthritis, Elevated circul... |
ORPHA:247353 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... |
OMIM:618858 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Coronal craniosynostosis, Increased bone mineral density |
OMIM:616943 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Ankle flexion contracture, Abnormal circulating porphyrin concentration, Increased ... |
ORPHA:100924 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Retinal telangiectasia |
OMIM:620157 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... |
OMIM:610582 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Hepatos... |
OMIM:603553 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Aortic valve stenosis, Coarse metaphyseal trabecularization, Facial hyperostosis, Osteopetrosis, ... |
ORPHA:2780 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Hyperkalemia, Hypertension, Glycosuria |
ORPHA:97362 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hyperphosphatemia, Hypocalcemia, Thickened cortex of long bones, Transient hypophosphatemia, Incr... |
OMIM:127000 |
| Acute Adrenal Insufficiency |
|
Hypotension, Hypoglycemia, Increased circulating renin level, Hyperuricemia, Hyponatremia, Orthos... |
ORPHA:95409 |
| Alg12-Cdg |
|
Hypoalbuminemia, Recurrent hypoglycemia, Biventricular hypertrophy, Muscular ventricular septal d... |
ORPHA:79324 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hypotension, Abnormal circulating cholesterol concentration, Increased circulating renin level, H... |
ORPHA:168558 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Cranial hyperostosis, Hepatosplenomegaly, Hyperbilirubinemia, Splenomegaly, Hypocalcemia, Osteope... |
OMIM:259720 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis |
OMIM:617306 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Renal hypophosphatemia, Pseudo-fractures, Osteomalacia, Rick... |
ORPHA:289176 |
| Addison Disease |
|
Hypotension, Type I diabetes mellitus, Hypoglycemia, Hyperuricemia, Hyponatremia, Orthostatic hyp... |
ORPHA:85138 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hypotension, Abnormal circulating cholesterol concentration, Increased circulating renin level, H... |
ORPHA:289548 |
| Poems Syndrome |
|
Visceromegaly, Sclerosis of hand bone, Sclerosis of foot bone, Sclerosis of skull base, Splenomeg... |
ORPHA:2905 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... |
OMIM:606176 |
| Gaucher Disease Type 3 |
|
Aortic valve calcification, Abnormal heart valve morphology, Splenomegaly, Increased susceptibili... |
ORPHA:77261 |
| Alg8-Cdg |
|
Camptodactyly, Hyponatremia |
ORPHA:79325 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hematochezia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia, ... |
OMIM:618183 |
| Porphyria Variegata |
|
Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, 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 |
|
Hypotension, Hyponatremia, Hyperkalemia, Neonatal hypoglycemia, Increased circulating renin level |
ORPHA:90791 |
| Isolated Right Ventricular Hypoplasia |
|
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... |
ORPHA:439 |
| Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... |
OMIM:604367 |
| Danon Disease |
|
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... |
OMIM:300257 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
| Shigellosis |
|
Hypovolemic shock, Hypoglycemia, Hyponatremia, Arthritis, Myocarditis, Abnormal blood ion concent... |
ORPHA:810 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:214700 |
| Naxos Disease |
|
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... |
OMIM:601214 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa... |
OMIM:112250 |
| Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia |
ORPHA:1930 |
| Complete Atrioventricular Septal Defect |
|
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... |
ORPHA:1329 |
| Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Glycosuria, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hyp... |
ORPHA:411634 |
| Pycnodysostosis |
|
Coronal craniosynostosis, Hepatosplenomegaly, Increased susceptibility to fractures, Joint hyperm... |
ORPHA:763 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Osteopetrosis, Splenomegaly |
OMIM:618541 |
| Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density |
ORPHA:3352 |
| Hyperoxaluria, Primary, Type I |
|
Atrioventricular block, Arterial occlusion, Pathologic fracture, Hyperoxaluria, Intermittent clau... |
OMIM:259900 |
| Sheehan Syndrome |
|
Hypoglycemia, Palpitations, Hyponatremia, Orthostatic hypotension, Bradycardia |
ORPHA:91355 |
| Pseudohypoparathyroidism Type 1C |
|
Ectopic ossification, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Prolonged... |
ORPHA:79444 |
| Pseudohypoparathyroidism Type 1A |
|
Ectopic ossification, Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Hypertension, Calcino... |
ORPHA:79443 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Craniofacial osteosclerosis, Increased skull ossification, Hypocalcemia, Osteopetrosis, Diaphysea... |
OMIM:618476 |
| Pituitary Apoplexy |
|
Hyponatremia, Hypotension, Hypertension, Hypoglycemia |
ORPHA:95613 |
| Rabin-Pappas Syndrome |
|
Hyponatremia, Tracheomalacia, Retinal telangiectasia |
OMIM:620155 |
| Gaucher Disease |
|
Aortic valve calcification, Hepatomegaly, Elevated circulating C-reactive protein concentration, ... |
ORPHA:355 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Coronary artery stenosis, Hyperglycemia, Increased LDL cholesterol concentration, Type II diabete... |
OMIM:615812 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hyperammonemia, Patent foramen ov... |
OMIM:610505 |
| Atypical Werner Syndrome |
|
Aortic valve stenosis, Aortic valve calcification, Limitation of joint mobility, Insulin-resistan... |
ORPHA:79474 |
| Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Rickets, Glycosuria, Hypomagnesemia, Hypophosphate... |
OMIM:219800 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Vasospasm, Congestive heart failure, Hyperglycemia, Ischemic stroke, Cerebral ischemia, ST segmen... |
ORPHA:90065 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Hyperkalemia, Hypoglycemia |
ORPHA:90790 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerosis of skull base, Increased susceptibility to fracture... |
OMIM:224300 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia |
OMIM:241410 |
| Erdheim-Chester Disease |
|
Congestive heart failure, Abnormal pericardium morphology, Osteomyelitis, Abnormal aortic valve m... |
ORPHA:35687 |
| Desmosterolosis |
|
Increased bone mineral density, Osteopetrosis, Splenomegaly, Anomalous pulmonary venous return |
ORPHA:35107 |
| Holoprosencephaly |
|
Hypoglycemia, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Joint hypermobility, Vent... |
ORPHA:2162 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia |
OMIM:613090 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... |
ORPHA:1677 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hypertensive crisis, Septic arthritis, Hypocalcemia, Hyponatremia, Myocarditis, Hyperkalemia, Hyp... |
ORPHA:544482 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:618838 |
| Tropical Endomyocardial Fibrosis |
|
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia |
OMIM:300200 |
| Dysostosis, Stanescu Type |
|
Increased bone mineral density, Massively thickened long bone cortices |
ORPHA:1798 |
| Primary Hyperoxaluria |
|
Arterial occlusion, Cardiomyopathy, Hyperoxaluria, Intermittent claudication, Generalized osteosc... |
ORPHA:416 |
| Camurati-Engelmann Disease |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Sclerosis of skull ba... |
OMIM:131300 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Osteoporosis, Hypertension, Hyperglycemia |
OMIM:615954 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, Hypertrophic ca... |
OMIM:261740 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Elevated circulating creatinine concentration, Hypokalemia, Hyponatremia, Unconjugated hyperbilir... |
ORPHA:90038 |
| Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Carpal synostosis, Abnormal heart valve morphology, Camptodactyly of ... |
ORPHA:90652 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Hepatosplenomegaly, Diaphyseal sclerosis, Osteopetrosis, Cranial hyperostosis |
OMIM:259730 |
| X-Linked Hypophosphatemia |
|
Limitation of joint mobility, Rickets, Generalized osteosclerosis, Hypophosphatemia, Arthritis, E... |
ORPHA:89936 |
| 12Q14 Microdeletion Syndrome |
|
Osteopoikilosis, Diabetes mellitus |
ORPHA:94063 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Hypotension, Recurrent hypoglycemia |
ORPHA:293978 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Congestive heart failure, Hypophosphatemic rickets, Cardiomegaly, Ankylos... |
OMIM:208000 |
| Liver Disease, Severe Congenital |
|
Dilatation of the ventricular cavity, Hyperbilirubinemia, Ventricular septal defect, Atrial septa... |
OMIM:619991 |
| Lysosomal Acid Lipase Deficiency |
|
Hypotension, Hepatosplenomegaly, Hyponatremia, Pulmonary arterial hypertension, Hypercholesterole... |
ORPHA:275761 |
| Schwartz-Jampel Syndrome |
|
Shoulder flexion contracture, Joint stiffness, Hip contracture, Elevated circulating creatine kin... |
ORPHA:800 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Splenomegaly, Femur fracture, Osteopetrosis, Hepatomegaly, H... |
OMIM:612301 |
| Acute Intermittent Porphyria |
|
Hyponatremia, Tachycardia, Hypertension |
ORPHA:79276 |
| Adenohypophysitis |
|
Hyponatremia, Orthostatic hypotension |
ORPHA:95512 |
| Trichothiodystrophy |
|
Osteopenia, Cardiomyopathy, Multiple joint contractures, Ventricular septal defect, Craniosynosto... |
ORPHA:33364 |
| Mody |
|
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... |
ORPHA:552 |
| Raine Syndrome |
|
Increased bone mineral density, Hypophosphatemia, Arthrogryposis multiplex congenita, Subperioste... |
OMIM:259775 |
| Desmosterolosis |
|
Total anomalous pulmonary venous return, Joint contracture of the hand, Abnormal circulating chol... |
OMIM:602398 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia |
OMIM:609812 |
| Panhypophysitis |
|
Hyponatremia, Orthostatic hypotension |
ORPHA:95513 |
| Chédiak-Higashi Syndrome |
|
Epistaxis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly, Hypona... |
ORPHA:167 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Insulin-resistant diabetes mellitus, Elbow flexion contracture, Hyperglycemia, Joint ... |
OMIM:248370 |
| Japanese Encephalitis |
|
Stiff neck, Hyponatremia, Elbow flexion contracture |
ORPHA:79139 |
| Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal pulmonary valve morphology, Splenomegaly, Hypocalcemia, Pulmonary arterial hypertension,... |
ORPHA:667 |
| Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai... |
ORPHA:1478 |
| Insulin-Resistance Syndrome Type B |
|
Hypoalbuminemia, Postprandial hyperglycemia, Insulin resistance, Hypotriglyceridemia, Glycosuria,... |
ORPHA:2298 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Limitation of joint mobility, Cranial hyperostosis, Facial hyperostosis, Abnormal cortical bone m... |
ORPHA:2658 |
| Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
| Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Coarse metaphyseal trabecularization, Ventricular septal defect, Thickened cortex of long bones, ... |
OMIM:620558 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Osteomalacia, Joint stiffness, Joint hypermobility, Hyponatremia, Hypokalemia, Hypophosphatemia, ... |
ORPHA:534 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... |
ORPHA:555874 |
| Williams Syndrome |
|
Synostosis of joints, Type II diabetes mellitus, Mitral regurgitation, Mitral valve prolapse, Ven... |
ORPHA:904 |
| Histiocytoid Cardiomyopathy |
|
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Hypoglycemia, Congestive ... |
ORPHA:137675 |
| Aorta Coarctation |
|
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... |
ORPHA:1457 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia |
OMIM:602522 |
| Bartter Syndrome Type 4 |
|
Hypomagnesemia, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
ORPHA:89938 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hypotension, Shock, Hyponatremia, Hyperkalemia, Neonatal hypoglycemia, Hypochloremia, Hypovolemia |
ORPHA:90794 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Hepatosplenomegaly, Portal hypertension, Splenomegaly, Increased ser... |
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 |
|
Joint contracture of the hand, Hypoglycemia, Carpal synostosis, Humeroradial synostosis, Decrease... |
OMIM:201750 |
| Blomstrand Lethal Chondrodysplasia |
|
Synostosis of joints, Increased bone mineral density |
ORPHA:50945 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hypokalemia, Hyponatremia |
OMIM:618426 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia |
OMIM:618252 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperglycemia, Hyperlipidemia |
ORPHA:293987 |
| Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... |
OMIM:119600 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hypocalcemia, Elevated circulating creatine kinase concentration, Pulmonary arterial hypertension... |
ORPHA:2785 |
| Sclerosteosis 1 |
|
Cortically dense long tubular bones, Sclerotic scapulae, Facial palsy secondary to cranial hypero... |
OMIM:269500 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Thickened cortex of long bones, Sclerosis of skull base, Increased density of long bones, Atrial ... |
OMIM:269150 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... |
ORPHA:99125 |
