| Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Torsade de pointes, Congenital sensorineural hearing impairment, Sudden cardiac death, Prolonged ... |
OMIM:220400 |
| Osteochondrosis Of The Metatarsal Bone |
|
Abnormality of the third metatarsal bone, Joint stiffness, Progressive joint destruction, Scleros... |
ORPHA:564003 |
| Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Syncope, Hearing impairment, Increased heart rate variability, Bradycardia |
OMIM:614896 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Nesidioblastosis |
OMIM:601820 |
| Eiken Syndrome |
|
Abnormal fingertip morphology, Thin bony cortex, Epiphyseal dysplasia, Metaphyseal irregularity, ... |
ORPHA:79106 |
| Long Qt Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613688 |
| Pancreas, Dorsal, Agenesis Of |
|
Abnormality of the pancreas, Diabetes mellitus |
OMIM:167755 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:256450 |
| Mahvash Disease |
|
Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia, Increased g... |
OMIM:619290 |
| Long Qt Syndrome 6 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... |
OMIM:613693 |
| Atrial Fibrillation, Familial, 9 |
|
Permanent atrial fibrillation, Palpitations, Prolonged QTc interval, Syncope, Paroxysmal atrial f... |
OMIM:613980 |
| Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus |
OMIM:612227 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
| Long Qt Syndrome 10 |
|
Sudden cardiac death, T-wave alternans, Atrial fibrillation, Prolonged QT interval, Atrioventricu... |
OMIM:611819 |
| Long Qt Syndrome 1 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:192500 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
| Long Qt Syndrome 13 |
|
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... |
OMIM:613485 |
| Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
| Long Qt Syndrome 9 |
|
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... |
OMIM:611818 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... |
OMIM:614021 |
| Long Qt Syndrome 14 |
|
Prolonged QTc interval, Prolonged QT interval, T-wave alternans, Ventricular fibrillation, Cardia... |
OMIM:616247 |
| Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
| Atrial Fibrillation, Familial, 3 |
|
Permanent atrial fibrillation, Sudden cardiac death, Prolonged QTc interval, Syncope, Atrial fibr... |
OMIM:607554 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Congenital sensorineural hearing impairment, Premature ventricular contractio... |
OMIM:612347 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Abnormality of femur morphology, Craniofacial hyperostosis, Splenomegaly, Anemia, Abnormality of ... |
ORPHA:1802 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... |
ORPHA:263458 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Upper limb metaphyseal widening, Osteopenia, Humerus varus, Thin bony cortex, Hypoplasia of the u... |
ORPHA:85188 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Reduced bone mineral density, Abnormal hip bone morphology, Foot acroosteolysis, Abnormality of t... |
ORPHA:970 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
| Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
| Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus |
OMIM:600089 |
| Brugada Syndrome 9 |
|
Presyncope, Palpitations, ST segment elevation, Prolonged QT interval |
OMIM:616399 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Atrial fibrillation, Sinus bradycardia, Prolonged QT interval |
OMIM:600919 |
| Hyperlysinemia, Type I |
|
Anemia, Hyperlysinemia, Hyperactivity, Cognitive impairment |
OMIM:238700 |
| Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
| Atrial Fibrillation, Familial, 18 |
|
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... |
OMIM:617280 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ... |
OMIM:118651 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr... |
ORPHA:1856 |
| Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... |
OMIM:608567 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... |
OMIM:615441 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... |
ORPHA:3152 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Toe clinodactyly, Short stature, Wormian bones, Upper limb undergrowth, Pathologic fracture, Shor... |
ORPHA:166277 |
| Angioosteohypotrophic Syndrome |
|
Hypoplasia of the radius, Abnormality of the hand, Short humerus, Upper limb undergrowth, Thin bo... |
ORPHA:75508 |
| Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... |
OMIM:604559 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... |
OMIM:600785 |
| Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Reduced bone mineral density, Short stature, Wormian bones, Slender long bon... |
OMIM:619795 |
| Long Qt Syndrome 5 |
|
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... |
OMIM:613695 |
| Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... |
ORPHA:1879 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... |
ORPHA:2790 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... |
OMIM:607778 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:606762 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Fasting hyper... |
ORPHA:79299 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... |
OMIM:616117 |
| Grant Syndrome |
|
Joint dislocation, Short stature, Abnormality of the glenoid fossa, Micrognathia, Wormian bones, ... |
ORPHA:2097 |
| Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Disproportionate short-limb short stature, Short femur, Hypoplasia of the radius, Short tibia, Ly... |
OMIM:601376 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Decreased circulating T4 concentration, Increased radioactive iodine uptake, Constipation, Macrog... |
ORPHA:90673 |
| Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
| Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular bigeminy, Ventricular ectopy, Prolonged QTc inte... |
OMIM:616249 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Polyphagia, Childhood-onset tr... |
ORPHA:71529 |
| Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged QTc interva... |
OMIM:612240 |
| Long Qt Syndrome 12 |
|
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval |
OMIM:612955 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Polycystic ovaries, Diabetes mellitus, Insulin resi... |
ORPHA:79084 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... |
OMIM:618447 |
| Thyroid Hormone Metabolism, Abnormal, 1 |
|
Hypothyroidism, Decreased circulating free T3, Elevated circulating thyroid-stimulating hormone c... |
OMIM:609698 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... |
OMIM:600081 |
| Gcgr-Related Hyperglucagonemia |
|
Cholelithiasis, Neoplasm of the pancreas, Abnormal biliary tract morphology, Glucagonoma, Increas... |
ORPHA:438274 |
| Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... |
ORPHA:276580 |
| Dysplastic Cortical Hyperostosis |
|
Increased bone mineral density, Splenomegaly, Short stature, Abnormality of limb bone morphology,... |
ORPHA:2204 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Short humerus, Epiphyseal stippling, Short femur |
OMIM:600121 |
| Multiple Symmetric Lipomatosis |
|
Insulin resistance, Hepatomegaly |
ORPHA:2398 |
| Gnathodiaphyseal Dysplasia |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Bowing of the long bones, Thickened co... |
ORPHA:53697 |
| Cranio-Osteoarthropathy |
|
Joint stiffness, Joint swelling, Osteoarthritis, Deviation of finger, Abnormality of tibia morpho... |
ORPHA:1525 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Short stature, Decreased circulating free T3, Increas... |
ORPHA:171706 |
| Romano-Ward Syndrome |
|
Torsade de pointes, Abnormal T-wave, Abnormal autonomic nervous system physiology, Sudden cardiac... |
ORPHA:101016 |
| Metatropic Dysplasia |
|
Joint stiffness, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodactyly of the 5th... |
ORPHA:2635 |
| Fibular Hemimelia |
|
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Thrombo... |
ORPHA:93323 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... |
ORPHA:293964 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to gluc... |
ORPHA:276575 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Delayed epiphyseal ossification, Coxa vara, Joint stiffness, Limitation of joint mobility, Finger... |
ORPHA:93308 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... |
OMIM:619598 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope |
OMIM:611938 |
| Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Short stature, Severe postnatal growth retardation, Pituitary dwarfism, Hy... |
OMIM:262700 |
| Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
| Weismann-Netter Syndrome |
|
Abnormality of femur morphology, Tibial bowing, Severe short stature, Abnormal morphology of ulna... |
ORPHA:3344 |
| Immunodeficiency 31C |
|
Lymphopenia, Short stature, Osteopenia, Diarrhea, Hypothyroidism, Villous atrophy, Delayed pubert... |
OMIM:614162 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Thyroid Dyshormonogenesis 6 |
|
Hypothyroidism, Congenital hypothyroidism |
OMIM:607200 |
| Familial Short Qt Syndrome |
|
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... |
ORPHA:51083 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Maturity-onset diabetes of the you... |
ORPHA:324575 |
| Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Osteopenia, Short femoral neck, Disproportionate short... |
OMIM:271530 |
| Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
| Long Qt Syndrome 3 |
|
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... |
OMIM:603830 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71526 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617182 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Goiter, Tachycardia, Palpitations, Weight loss |
OMIM:188580 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Abnormal hip bone morphology, Short stature, Micrognathia, Slender long bone... |
ORPHA:1486 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... |
OMIM:264700 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Infertility, Hyperinsulinemia, Lipoatrophy, Loss of gluteal ... |
ORPHA:280356 |
| Familial Expansile Osteolysis |
|
Osteolysis, Thin bony cortex, Bowing of the long bones, Pathologic fracture |
OMIM:174810 |
| Mueller-Weiss Syndrome |
|
Talipes calcaneovarus, Joint stiffness, Edema of the dorsum of feet, Sclerosis of foot bone, Limi... |
ORPHA:566943 |
| Familial Thyroid Dyshormonogenesis |
|
Sensorineural hearing impairment, Hypothermia, Thyroid defect in oxidation and organification of ... |
ORPHA:95716 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
| Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Impotence, Central adrenal insufficiency, Decreased fertility in mal... |
ORPHA:91347 |
| Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Hypoplasia of penis, Truncal obesity, Hypoglycemia,... |
ORPHA:181393 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Protracted diarrhea, Abnormal intestine morphology |
OMIM:251850 |
| Sick Sinus Syndrome 4 |
|
Abnormal QT interval, Abnormal QRS complex, Sinoatrial block, Syncope, Chronotropic incompetence,... |
OMIM:619464 |
| Acromesomelic Dysplasia 2A |
|
Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/H... |
OMIM:200700 |
| Mccune-Albright Syndrome |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Precocious puberty, Hyperth... |
OMIM:174800 |
| Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism |
OMIM:603373 |
| Lethal Faciocardiomelic Dysplasia |
|
Intrauterine growth retardation, Microretrognathia, Hypoplasia of the radius, Radial club hand, S... |
ORPHA:1972 |
| Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... |
OMIM:609621 |
| Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Premature pubarche |
OMIM:614662 |
| Morbid Obesity And Spermatogenic Failure |
|
Infertility, Type II diabetes mellitus, Azoospermia, Oligospermia, Myocardial infarction, Hypertr... |
OMIM:615703 |
| Pituitary Dwarfism With Large Sella Turcica |
|
Hypothyroidism, Growth delay, Pituitary dwarfism, Decreased response to growth hormone stimulatio... |
OMIM:262710 |
| Ritscher-Schinzel Syndrome 3 |
|
Wide anterior fontanel, Shortening of all distal phalanges of the fingers, Short 1st metacarpal, ... |
OMIM:619135 |
| Brachydactyly Type A1 |
|
Broad metacarpals, Clinodactyly of the 5th finger, Talipes equinovarus, Short stature, Distal sym... |
ORPHA:93388 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Renal tubular dysfunction, Failure to thrive, Hyperinsulinemia, Diarrhea, Vomiting, Hypoglycemia,... |
OMIM:606528 |
| Van Bogaert-Hozay Syndrome |
|
Osteolytic defects of the phalanges of the hand, Micrognathia, Distal ulnar hypoplasia |
OMIM:277150 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Tachycardia, Weight loss, Goiter |
OMIM:613239 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... |
OMIM:241530 |
| Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Joint stiffness, Severe short stature, Hypoplasia of the radius, Delayed cranial suture closure, ... |
ORPHA:2249 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... |
ORPHA:2141 |
| Mental Retardation Syndrome, Mietens-Weber Type |
|
Forearm undergrowth, Dislocated radial head, Severe postnatal growth retardation, Pes planus, Elb... |
OMIM:249600 |
| Sick Sinus Syndrome 2 |
|
Torsade de pointes, Sudden cardiac death, Syncope, Atrial fibrillation, Prolonged QTc interval, A... |
OMIM:163800 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
| Short Qt Syndrome 1 |
|
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... |
OMIM:609620 |
| Jervell And Lange-Nielsen Syndrome |
|
Torsade de pointes, Arrhythmia, Prolonged QTc interval, Syncope, Ventricular fibrillation, Profou... |
ORPHA:90647 |
| Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Abnormality of ... |
ORPHA:240 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Constipation... |
ORPHA:90674 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... |
OMIM:277440 |
| Retinohepatoendocrinologic Syndrome |
|
Maturity-onset diabetes of the young, Infertility, Hypothyroidism |
OMIM:268040 |
| Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Forearm undergrowth, Lower limb undergrowth, Craniosynostosis |
OMIM:218650 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Short distal phalanx of finger, Brachydactyly, Wormian bones, Osteoporosis, Joint hyperflexibility |
ORPHA:2787 |
| Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, At... |
OMIM:601494 |
| Diarrhea 9 |
|
Villous atrophy, Diarrhea |
OMIM:618168 |
| Caffey Disease |
|
Increased circulating antibody level, Cortical thickening of long bone diaphyses, Periosteal thic... |
ORPHA:1310 |
| Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Hypoplasia of the capital femoral epiphysis, Irreg... |
ORPHA:750 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Sick sinus syndrome, Arrhythmia, Bradycardia |
OMIM:617173 |
| Brugada Syndrome 3 |
|
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... |
OMIM:611875 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Hepatomegaly, Excessive insulin response to glucagon test, Hypoket... |
ORPHA:276556 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Hirsutism, Type II diabetes mellitus, Hyperinsulinemia, Loss... |
OMIM:604367 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Polyphagia, Hyperinsulinemia |
ORPHA:329249 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Abnormal calcium-phosphate regulating hormone level, Recurrent fractures, Precocious puberty, Hyp... |
ORPHA:457059 |
| Dyssegmental Dysplasia With Glaucoma |
|
Delayed epiphyseal ossification, Wide anterior fontanel, Hip contracture, Short stature, Flared m... |
OMIM:601561 |
| Ulnar Hypoplasia |
|
Ulnar deviation of the hand, Radial bowing, Hypoplasia of the radius, Hypoplasia of the ulna, Rad... |
OMIM:191440 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Wide anterior fontanel, Increased bone mineral density, Osteopenia, Micrognathia, Broad femoral n... |
ORPHA:85184 |
| Lactose Intolerance, Adult Type |
|
Diarrhea, Decreased small intestinal mucosa lactase level, Lactose intolerance |
OMIM:223100 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus |
OMIM:613375 |
| Acrodysostosis |
|
Short toe, Abnormal morphology of ulna, Short stature, Hypoplasia of the radius, Cone-shaped epip... |
ORPHA:950 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... |
OMIM:300554 |
| Atrial Standstill |
|
Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpitations, Mobitz I atrioventri... |
ORPHA:1344 |
| Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hypoplasia of t... |
OMIM:127300 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Femoral bowing, Wormian bones, Thin bony cortex, Pes planus, Broad thumb, Rhizomelia, Short 4th m... |
OMIM:619638 |
| Prader-Willi Habitus, Osteopenia, And Camptodactyly |
|
Joint contracture of the hand, Short stature, Osteopenia, Osteoporosis, Camptodactyly, Obesity |
OMIM:264010 |
| Hyperthyroidism, Nonautoimmune |
|
Hyperthyroidism, Small for gestational age, Tachycardia, Thyroid hyperplasia, Goiter |
OMIM:609152 |
| Glutaric Aciduria Iii |
|
Hypertension, Goiter, Failure to thrive, Hyperthyroidism |
OMIM:231690 |
| Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
| Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Graves disease, Increased circulating free T3, Weigh... |
OMIM:275000 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Tibial bowing, Subperiosteal bone resorption, Sparse bone trabec... |
ORPHA:289157 |
| Osteomesopyknosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2777 |
| Ck Syndrome |
|
Abnormal digit morphology, Abnormal cortical bone morphology, Micrognathia, Joint hypermobility |
OMIM:300831 |
| Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
| Ulnar Hemimelia |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
| Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Polyphagia, Hyperinsulinemia |
ORPHA:369873 |
| Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Arrhythmia |
ORPHA:3193 |
| Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Hyperinsulinemia |
OMIM:618406 |
| Mccune-Albright Syndrome |
|
Abnormal endocrine physiology, Pancreatitis, Ovarian cyst, Increased circulating prolactin concen... |
ORPHA:562 |
| RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Diabetes mellitus |
DECIPHER:47 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Abdominal obesity, Decreased response to growth hormone stimulation test, Short stature, Truncal ... |
OMIM:618160 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Arrhythmia |
OMIM:212500 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Abnormal bone structure, Anemia, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
| Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... |
ORPHA:99886 |
| His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy |
ORPHA:3283 |
| Riboflavin Deficiency |
|
Hypoglycemia, Hypothermia |
OMIM:615026 |
| Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy, Diarrhea |
OMIM:618662 |
| Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short clavicl... |
ORPHA:2484 |
| Genetic Transient Congenital Hypothyroidism |
|
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... |
ORPHA:226316 |
| Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Short stature, Hypoplasia of th... |
OMIM:112910 |
| Pediatric-Onset Graves Disease |
|
Failure to thrive, Graves disease, Sinus tachycardia, Craniosynostosis, Increased circulating fre... |
ORPHA:525731 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Coxa vara, Flat capital femoral epiphysis, Short femur, Micrognathia, Wide capital femoral epiphy... |
OMIM:147891 |
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Intractable diarrhea |
OMIM:613217 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Delayed epiphyseal ossification, Decreased circulating T4 concentration, Constipation, Macrogloss... |
ORPHA:226313 |
| Flynn-Aird Syndrome |
|
Joint stiffness, Ataxia, Increased bone mineral density, Rod-cone dystrophy, Osteoporosis, Increa... |
OMIM:136300 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Polyphagia, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
| Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, ST segment depression, Mitral regurgitation, Palpitations, Decreased QRS voltage... |
ORPHA:66529 |
| Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
| Diarrhea 12, With Microvillus Atrophy |
|
Microvillar PAS-positive secretory granules, Vomiting, Villous atrophy, Secretory diarrhea, Micro... |
OMIM:619445 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Short stature, Osteoporosis, Hypothyroidism, Male hypogonadism, Premature ovarian insufficiency |
OMIM:618625 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting |
OMIM:615863 |
| Multiple Epiphyseal Dysplasia With Robin Phenotype |
|
Dislocated radial head, Coxa vara, Flat capital femoral epiphysis, Talipes equinovarus, Flexion c... |
OMIM:601560 |
| Hyperostosis Frontalis Interna |
|
Irregular menstruation, Hyperostosis frontalis interna, Increased circulating prolactin concentra... |
OMIM:144800 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Syncope, Sinus bradycardia, Complete heart block with narrow QRS complexes,... |
OMIM:140400 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Dislocated radial head, Epiphyseal dysplasia, Fragmented epiphyses, Delayed epiphyseal ossificati... |
ORPHA:166016 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutter, Atrial fibrillation... |
OMIM:616201 |
| Caffey Disease |
|
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones, Calvarial hyperos... |
OMIM:114000 |
| Estrogen Resistance |
|
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:615363 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Arrhythmia, Aganglionic megacolon, Hyperhidrosis |
ORPHA:2151 |
| Idiopathic Congenital Hypothyroidism |
|
Decreased circulating T4 concentration, Constipation, Macroglossia, Delayed proximal femoral epip... |
ORPHA:95717 |
| Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
|
Hypothyroidism, Panhypopituitarism, Decreased response to growth hormone stimulation test |
OMIM:300123 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hypothermia |
OMIM:610006 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia |
ORPHA:35878 |
| Ulnar Hypoplasia With Mental Retardation |
|
Bilateral ulnar hypoplasia, Talipes equinovarus, Limited elbow movement, Limitation of knee mobility |
OMIM:276821 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, Dysuria, Chronic kidney disease, Abnormal enzyme/coenzyme activity, Macroscopic ... |
ORPHA:976 |
| Thyroid Hypoplasia |
|
Constipation, Macroglossia, Hypothyroidism, Thyroid hypoplasia, Jaundice |
ORPHA:95720 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia |
OMIM:307500 |
| Gorham-Stout Disease |
|
Abnormality of femur morphology, Abnormality of finger, Osteomyelitis, Abnormal bone ossification... |
ORPHA:73 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... |
ORPHA:174 |
| Diastrophic Dysplasia |
|
Hip contracture, Disproportionate short-limb short stature, Hypoplastic cervical vertebrae, Talip... |
OMIM:222600 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... |
OMIM:600858 |
| Slc35A2-Cdg |
|
Intrauterine growth retardation, Talipes equinovarus, Craniosynostosis, Short stature, Short tibi... |
ORPHA:356961 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Type II diabetes mellitus, Impaired sensitivity to thyroid hormone, Small for gestational age, Co... |
OMIM:274300 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Abnormal morphology of ulna, Synostosis of carpal bones, Micromelia, Abnormality of tibia morphol... |
ORPHA:2634 |
| Short Rib-Polydactyly Syndrome |
|
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Intrauterine growth retardation, Sho... |
ORPHA:1505 |
| Thyroid Hormone Resistance, Selective Pituitary |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti... |
OMIM:145650 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Constipation, Delayed proximal femoral epiphyseal os... |
ORPHA:226307 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density, Diabetes mellitus |
OMIM:602475 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Orthostati... |
ORPHA:66628 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Left anterior fascicular block, Permanent atrial fibrillation, Left bundle branch block, Mitral r... |
OMIM:617047 |
| Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Epiphyseal streaking, Clinodactyly of the 4th toe, Short stature, Wormian bones, Limited elbow ex... |
OMIM:604922 |
| Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Abnormal bone ossification, Abnormal... |
ORPHA:2114 |
| Brugada Syndrome |
|
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... |
ORPHA:130 |
| Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
| Acromesomelic Dysplasia 2C |
|
Severe short-limb dwarfism, Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short... |
OMIM:201250 |
| Short Stature, Dauber-Argente Type |
|
Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Short statu... |
OMIM:619489 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Recurrent fractures, Bone cyst, Joint dislocation, Abnormal hip bone morphology, Short stature, O... |
ORPHA:93160 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Disproportionate short-limb short stature, Limitation of joint mobility, Abnormal join... |
ORPHA:93351 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hirsutism, Primary amenorrhea, Generalized lipodystrophy, Li... |
OMIM:612526 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Cortical sclerosis, Diaphyseal sclerosis, Short stature, Elevated circulating parathyroid hormone... |
OMIM:122860 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... |
ORPHA:3329 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypothermia, Hepatic failure, Hypoketotic hypoglycemia, Arrhythmia, Hypotension, Oliguria, Dicarb... |
ORPHA:159 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Ectrodactyly, Upper limb phocomelia, Radial club hand, Short humerus, Hypoplasia of the ulna, Abn... |
ORPHA:2878 |
| Short Qt Syndrome 3 |
|
Palpitations, Tachycardia, Shortened QT interval |
OMIM:609622 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602087 |
| Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Atrial fibrillation, Arrhythmia, Bradycardia |
OMIM:614302 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Constipation, Macroglossia, Congenital hypothyroidism, Ectopic thyroid, Hypothyroidism, Elevated ... |
OMIM:218700 |
| Dent Disease 1 |
|
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Rec... |
OMIM:300009 |
| Acromesomelic Dysplasia, Grebe Type |
|
Joint stiffness, Short toe, Disproportionate short-limb short stature, Short tibia, Aplasia of th... |
ORPHA:2098 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Orthostati... |
ORPHA:179494 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
T-wave inversion in the right precordial leads, Ventricular arrhythmia, Right ventricular cardiom... |
OMIM:602086 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Lipoatrophy, Oligomenorrhea, Lipodystrophy, Hypertriglyceridemia, Insulin-resistant diabetes mell... |
OMIM:613877 |
| Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... |
ORPHA:45453 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Metaphyseal irregularity, Dislocated radial head, Knee dislocation, Short stature, Short femoral ... |
OMIM:618395 |
| Lethal Recessive Chondrodysplasia |
|
Micrognathia, Micromelia, Limb undergrowth, Generalized osteosclerosis, Flared elbow metaphyses, ... |
ORPHA:1423 |
| Primary Erythromelalgia |
|
Hypothermia, Vasculitis |
ORPHA:90026 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal distal femoral condyles,... |
OMIM:307800 |
| Spondyloperipheral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Shortening of all proximal phalanges of the f... |
OMIM:271700 |
| Creutzfeldt-Jakob Disease |
|
Apathy, Abnormal cerebellum morphology, Depression, Anxiety, Memory impairment, Gait ataxia, Irri... |
OMIM:123400 |
| Hydatidiform Mole |
|
Miscarriage, Hyperthyroidism, Menometrorrhagia |
ORPHA:99927 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Hypothyroidism, Cardiomyopathy |
OMIM:619647 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Thin metacarpal cortices, Thin bony cortex, C1-C2 subluxation, Delayed closure of the... |
OMIM:259600 |
| Fibrous Dysplasia Of Bone |
|
Abnormality of the endocrine system, Precocious puberty in females, Thyroid carcinoma, Elevated c... |
ORPHA:249 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Malabsorption, Abnormal enzyme/coenzyme activity, Vomiting, Nausea, Abnormal small intestinal muc... |
ORPHA:103907 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Mody |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... |
ORPHA:552 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Facial p... |
OMIM:601419 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Small for gestational age, Activating thyroid-stimulating hormone receptor defec... |
ORPHA:424 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas... |
OMIM:250460 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Postnatal growth retardation, Short stature, Hypogonadism, Central hypothyroidism |
OMIM:616113 |
| Secondary Short Bowel Syndrome |
|
Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dys... |
ORPHA:95427 |
| Isolated Osteopoikilosis |
|
Abnormality of femur morphology, Joint stiffness, Abnormal bone ossification, Sclerosis of foot b... |
ORPHA:166119 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Rickets of the lower limbs, Coxa vara, Tibial bowing, Distal femoral bowing, Hypophosphatemic ric... |
ORPHA:289176 |
| Spontaneous Periodic Hypothermia |
|
Hypothermia, Arrhythmia, Hyperhidrosis |
ORPHA:29822 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Reduced circulating prol... |
OMIM:300888 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Hypoglyc... |
OMIM:262190 |
| Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Talipes equinovarus, Craniosynostosis, Short tibia, Micrognathia, Abnormalit... |
OMIM:251230 |
| Congenital Atransferrinemia |
|
Hypothyroidism, Arthritis |
ORPHA:1195 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed puberty, Hyperinsulinemic hypoglycemia, Delayed thelarche, Diabetes mellitus |
OMIM:616033 |
| Congenital Generalized Lipodystrophy |
|
Amenorrhea, Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hypertrichosis, L... |
ORPHA:528 |
| Thyroid Dyshormonogenesis 2A |
|
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter |
OMIM:274500 |
| Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... |
OMIM:612885 |
| Spondylometaphyseal Dysplasia, East African Type |
|
Coxa vara, Disproportionate short-limb short stature, Metaphyseal spurs, Metaphyseal widening, Br... |
OMIM:611702 |
| Pachydermoperiostosis |
|
Joint swelling, Osteomyelitis, Elevated circulating growth hormone concentration, Splenomegaly, S... |
ORPHA:2796 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Secondary amenorrhea, Inappropriately normal thyroid-stimulating hormone level, Central hypothyro... |
OMIM:301033 |
| Osteogenesis Imperfecta, Type V |
|
Recurrent fractures, Limited pronation/supination of forearm, Anterior radial head dislocation, S... |
OMIM:610967 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulating alkaline phosphatase concen... |
ORPHA:263455 |
| Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... |
OMIM:115200 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed tarsal ossification, Delayed o... |
OMIM:607078 |
| Osteogenesis Imperfecta, Type Xviii |
|
Recurrent fractures, Femoral bowing, Micrognathia, Wormian bones, Thin bony cortex, Joint laxity,... |
OMIM:617952 |
| Acquired Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis |
ORPHA:79087 |
| Fetal Iodine Syndrome |
|
Sensorineural hearing impairment, Hypothyroidism |
ORPHA:1910 |
| Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Apathy, Anxiety, Inappropriate behavior, Falls, Memory impairment, Shuffling gait, Motor deterior... |
ORPHA:412066 |
| Prader-Willi syndrome (Type 1) |
|
Truncal obesity, Hypogonadism |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Truncal obesity, Hypogonadism |
DECIPHER:53 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Cardiac arrest, Hypothermia, Arrhythmia, Abnormal autonomic nervous system physiology |
ORPHA:168593 |
| Trehalase Deficiency |
|
Abnormal enzyme/coenzyme activity, Malabsorption, Diarrhea, Vomiting |
ORPHA:103909 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... |
OMIM:144750 |
| Hypochondroplasia |
|
Childhood onset short-limb short stature, Aplasia/hypoplasia of the extremities, Flared metaphysi... |
OMIM:146000 |
| Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Osteopenia, Micrognathia, Clinodactyly, Radial deviation of finger |
OMIM:608747 |
| Type 1 Diabetes Mellitus |
|
Polyphagia, Polydipsia, Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Oligomenorrhea, Decreased serum leptin, Lipodystrophy, Hypertriglyceridemia, Incr... |
ORPHA:79085 |
| Thyroid Lymphoma |
|
Hypothyroidism, Goiter, Hashimoto thyroiditis, Hyperthyroidism |
ORPHA:97285 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Abnormal femoral neck/head morphology, Short stature, Osteopenia, Metaphyseal widening, Osteoporo... |
ORPHA:2788 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Impaired sensitivity to thyroid hormone, Increased body weight, Increased body mass index, Congen... |
OMIM:614450 |
| Bangstad Syndrome |
|
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... |
ORPHA:1227 |
| Immunodeficiency 8 |
|
Hyperactivity, Lymphopenia |
OMIM:615401 |
| Pendred Syndrome |
|
Congenital sensorineural hearing impairment, Cochlear malformation, Thyroid carcinoma, Compensate... |
OMIM:274600 |
| Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Short toe, Disproportionate short-limb short stature, Talipes equinovarus, Ele... |
OMIM:609441 |
| Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... |
OMIM:194200 |
| Van Buchem Disease |
|
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density |
OMIM:239100 |
| Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Femoral bowing, Ulnar deviation of finger, Single transverse palmar crease, Cont... |
OMIM:601559 |
| 3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, Optic atrophy, Noncompaction cardiomyopathy, Dilated cardiomyopathy, Prolon... |
OMIM:610198 |
| Proprotein Convertase 1/3 Deficiency |
|
Malabsorption, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Diarrhea, Vil... |
OMIM:600955 |
| Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Small epiphyses of... |
OMIM:177170 |
| Leptin Deficiency Or Dysfunction |
|
Micropenis, Primary amenorrhea, Decreased serum leptin, Abnormal eating behavior, Polyphagia, Hyp... |
OMIM:614962 |
| Thyrotoxic Periodic Paralysis |
|
Graves disease, Hyperthyroidism, Palpitations, Hyperhidrosis, Shortened PR interval, Thyrotoxicos... |
ORPHA:79102 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Activating thyroid-stimulating hormone receptor defect, Weight loss, Thyroid hyp... |
ORPHA:99819 |
| Hypophosphatemic Rickets |
|
Joint stiffness, Failure to thrive, Precocious puberty, Fibrous dysplasia of the bones, Hyperthyr... |
ORPHA:437 |
| Achondrogenesis Type 2 |
|
Abnormal bone ossification, Delayed proximal femoral epiphyseal ossification, Short ribs, Hypopla... |
ORPHA:93296 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Congenital hypothyroidism, Craniosynostosis |
ORPHA:88643 |
| Hyperthyroxinemia, Familial Dysalbuminemic |
|
Euthyroid hyperthyroxinemia |
OMIM:615999 |
| Hyperthyroxinemia, Dystransthyretinemic |
|
Euthyroid hyperthyroxinemia |
OMIM:145680 |
| Congenital Amegakaryocytic Thrombocytopenia |
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Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification |
ORPHA:3319 |
| Boomerang Dysplasia |
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Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of ulna, Abnorma... |
ORPHA:1263 |
| Cardiomyopathy, Familial Hypertrophic 27 |
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Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Mitral regurgita... |
OMIM:618052 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
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Decreased circulating T4 concentration, Reduced circulating prolactin concentration, Decreased ci... |
ORPHA:99832 |
| Rothmund-Thomson Syndrome |
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Palmar hyperkeratosis, Reduced bone mineral density, Short stature, Broad ulna, Osteopenia, Aplas... |
ORPHA:2909 |
| Thyroid Dyshormonogenesis 3 |
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Increased T3/T4 ratio, Goiter, Compensated hypothyroidism, Thyroid carcinoma |
OMIM:274700 |
| Timothy Syndrome |
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Hypothyroidism, Prolonged QT interval, Bradycardia |
OMIM:601005 |
| Idiopathic Neonatal Atrial Flutter |
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Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... |
ORPHA:45452 |
| Coenzyme Q10 Deficiency, Primary, 7 |
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Dysphagia, Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
| Multiple Endocrine Neoplasia Type 4 |
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Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... |
ORPHA:276152 |
| Autosomal Recessive Kenny-Caffey Syndrome |
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Growth delay, Cortical thickening of long bone diaphyses, Postnatal growth retardation, Stenosis ... |
ORPHA:93324 |
| Mietens Syndrome |
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Coxa vara, Joint stiffness, Clinodactyly of the 5th finger, Coxa valga, Elbow ankylosis, Severe s... |
ORPHA:2557 |
| Lipe-Related Familial Partial Lipodystrophy |
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Increased adipose tissue around the neck, Hyperlipidemia, Loss of gluteal subcutaneous adipose ti... |
ORPHA:435660 |
| Diamond-Blackfan Anemia 11 |
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Anemia of inadequate production, Absent thumb, Short stature, Hypoplasia of the radius, Radioulna... |
OMIM:614900 |
| Paroxysmal Extreme Pain Disorder |
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Tachycardia, Bradycardia |
OMIM:167400 |
| Buschke-Ollendorff Syndrome |
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Joint stiffness, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
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Hip contracture, Advanced ossification of carpal bones, Microretrognathia, Knee dislocation, Micr... |
OMIM:618363 |
| Bardet-Biedl Syndrome 11 |
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Obesity, Hypogonadism |
OMIM:615988 |
| Langer Mesomelic Dysplasia |
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Radial bowing, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognathia, Rudimentary fibul... |
OMIM:249700 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
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Abnormal femoral neck/head morphology, Wide anterior fontanel, Abnormal bone ossification, Slende... |
ORPHA:163649 |
| Bdv Syndrome |
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Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
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Papillary thyroid carcinoma, Follicular thyroid carcinoma, Colon cancer, Nodular goiter, Goiter |
ORPHA:319487 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
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Elevated circulating growth hormone concentration, Polycystic ovaries, Insulin-resistant diabetes... |
ORPHA:90301 |
| Morgagni-Stewart-Morel Syndrome |
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Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteoarthritis, Osteoporos... |
ORPHA:77296 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
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Vertigo, Sudden cardiac death, Ventricular tachycardia, Syncope |
ORPHA:3286 |
| 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
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Hypothyroidism, Infertility |
OMIM:264300 |
| Hypothyroidism, Congenital, Nongoitrous, 1 |
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Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypoth... |
OMIM:275200 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
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Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
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Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... |
OMIM:604772 |
| Atrial Fibrillation, Familial, 10 |
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Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Paroxysmal atrial fibrill... |
OMIM:614022 |
| Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
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Abnormal bone ossification, Genu varum, Bowing of the long bones, Coarse metaphyseal trabeculariz... |
ORPHA:1952 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
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Hypoplasia of the capital femoral epiphysis, Hypoplasia of the ulna, Genu valgum, Rhizomelia, Gen... |
OMIM:143095 |
