Brugada Syndrome 2 |
|
Syncope, First degree atrioventricular block, Sudden cardiac death, Prolonged PR interval, Ventri... |
OMIM:611777 |
Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
Progressive Familial Heart Block, Type Ia |
|
Left anterior fascicular block, Syncope, Sudden cardiac death, Prolonged PR interval, Left poster... |
OMIM:113900 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Hypertension, Paroxysmal atrial fibrillation, Prolonged PR interval |
OMIM:615378 |
Acroosteolysis |
|
Osteolytic defects of the phalanges of the toes, Osteolytic defects of the phalanges of the hand |
OMIM:102400 |
Atrial Fibrillation, Familial, 7 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Palpitations, Premature atrial contractio... |
OMIM:612240 |
Medial Condensing Osteitis Of The Clavicle |
|
Patchy reduction of bone mineral density, Limited shoulder movement |
ORPHA:57196 |
Type 1 Diabetes Mellitus 15 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:601666 |
Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
Paget Disease Of Bone 4 |
|
Osteolysis |
OMIM:606263 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Ventricular tachycardia, Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Sudden car... |
OMIM:610193 |
Atrioventricular Dissociation |
|
Congenital atrioventricular dissociation |
OMIM:209600 |
Long Qt Syndrome 10 |
|
T-wave alternans, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, Atrial fib... |
OMIM:611819 |
Xanthoma Disseminatum |
|
Osteolysis |
ORPHA:158003 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Prolonged QTc interval, Reduced left ventricular ejection fraction, Torsade de po... |
OMIM:613485 |
Familial Expansile Osteolysis |
|
Thin bony cortex, Osteolysis, Pathologic fracture |
OMIM:174810 |
Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, Palpitations, First degree atrioventricular block, Permanent atri... |
OMIM:617280 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Progressive Familial Heart Block, Type Ii |
|
Syncope, Sudden cardiac death, Complete heart block with narrow QRS complexes, Sinus bradycardia,... |
OMIM:140400 |
Sinoatrial Node Dysfunction And Deafness |
|
Bradycardia, Syncope, Abnormal QRS complex, Increased heart rate variability |
OMIM:614896 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Reduced bone mineral density, Osteolysis, Foot acroosteolysis, Abnormal cortical bone morphology |
ORPHA:970 |
Hyaline Fibromatosis Syndrome |
|
Osteolysis, Osteoporosis, Progressive flexion contractures, Osteopenia, Flexion contracture |
OMIM:228600 |
Atrial Standstill 1 |
|
Atrial cardiomyopathy, Paroxysmal atrial fibrillation, Atrial standstill, First degree atrioventr... |
OMIM:108770 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Progressive Familial Heart Block, Type Ib |
|
Left anterior fascicular block, Syncope, Arrhythmia, Atrioventricular block, Shortened PR interva... |
OMIM:604559 |
Atrial Fibrillation, Familial, 11 |
|
Prolonged QRS complex, Prolonged P wave, Atrial fibrillation, Reduced left ventricular ejection f... |
OMIM:614049 |
Orofacial Cleft 10 |
|
Unilateral cleft lip, Unilateral cleft palate |
OMIM:613705 |
Orofacial Cleft 1 |
|
Cleft upper lip, Cleft palate |
OMIM:119530 |
Orofacial Cleft 5 |
|
Cleft upper lip, Cleft palate |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft upper lip, Cleft palate |
OMIM:608864 |
Cardiomyopathy, Dilated, 1U |
|
Syncope, Severely reduced left ventricular ejection fraction, First degree atrioventricular block... |
OMIM:613694 |
Wolff-Parkinson-White Syndrome |
|
Ventricular preexcitation with multiple accessory pathways, Prolonged QRS complex, Wolff-Parkinso... |
OMIM:194200 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Sick Sinus Syndrome 4 |
|
Paroxysmal atrial fibrillation, Syncope, Sinoatrial block, Abnormal QT interval, Sinus bradycardi... |
OMIM:619464 |
Long Qt Syndrome 14 |
|
Cardiac arrest, Prolonged QTc interval, T-wave alternans, Ventricular fibrillation, 2:1 atriovent... |
OMIM:616247 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Osteolysis |
ORPHA:2776 |
Sick Sinus Syndrome 1 |
|
Absent P wave, Sick sinus syndrome, Sinus bradycardia, Atrioventricular block, Prolonged QT inter... |
OMIM:608567 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, T-wave inversion in the right precordia... |
OMIM:602086 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, T-wave inversion in the right precordia... |
OMIM:602087 |
Brugada Syndrome |
|
Cardiac arrest, ST segment elevation, Syncope, Supraventricular tachycardia, Trifascicular block,... |
ORPHA:130 |
Long Qt Syndrome 11 |
|
Prolonged QTc interval, Syncope |
OMIM:611820 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypo... |
OMIM:610021 |
Cardiomyopathy, Dilated, 1G |
|
Ventricular tachycardia, Reduced left ventricular ejection fraction, Premature atrial contraction... |
OMIM:604145 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft upper lip, Cleft palate |
OMIM:106250 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Juvenile Hyaline Fibromatosis |
|
Progressive flexion contractures, Osteolysis, Joint stiffness |
ORPHA:2028 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Ventricular tachycardia, Ventricular couplet, Paroxysmal atrial fibrillation, Effort-induced poly... |
OMIM:604772 |
Cardiomyopathy, Dilated, 1E |
|
Reduced left ventricular ejection fraction, Syncope, Palpitations, Supraventricular tachycardia, ... |
OMIM:601154 |
Rosaï-Dorfman Disease |
|
Osteolysis |
ORPHA:158014 |
Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Osteolysis, Fractures of the long bones |
OMIM:167250 |
Gnathodiaphyseal Dysplasia |
|
Mandibular osteomyelitis, Thickened cortex of long bones, Osteopenia, Recurrent fractures |
ORPHA:53697 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Non-midline cleft lip, Tooth agenesis, Cleft palate |
ORPHA:1074 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia |
OMIM:240900 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Long Qt Syndrome 16 |
|
Prolonged QTc interval, Bradycardia, Second degree atrioventricular block, T-wave alternans |
OMIM:618782 |
Brugada Syndrome 9 |
|
ST segment elevation, Palpitations, Prolonged QT interval, Presyncope |
OMIM:616399 |
Mu-Heavy Chain Disease |
|
Osteoporosis, Osteolysis |
ORPHA:100024 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Irritability, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Long Qt Syndrome 2 |
|
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... |
OMIM:613688 |
Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Syncope, First degree atrioventricular block, Left bu... |
OMIM:613697 |
Familial Short Qt Syndrome |
|
Syncope, Palpitations, Shortened QT interval, Sudden cardiac death, Atrioventricular block, Ventr... |
ORPHA:51083 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Asymmetric septal hypertrophy, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Syncope, Pa... |
OMIM:600858 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Arrhythmia, Sick sinus syndrome, Prolonged PR interval, Bradycardia, Ventricular escape rhythm |
ORPHA:542306 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... |
ORPHA:2790 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval |
OMIM:220400 |
Atrial Fibrillation, Familial, 9 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Syncope, Palpitations, Permanent atrial f... |
OMIM:613980 |
Pierre Robin Syndrome |
|
Pierre-Robin sequence, Glossoptosis, Cleft palate |
OMIM:261800 |
Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... |
OMIM:614954 |
Incessant Infant Ventricular Tachycardia |
|
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Left ventricular systolic dysfunc... |
ORPHA:45453 |
Gorham-Stout Disease |
|
Patchy reduction of bone mineral density, Osteolysis, Pathologic fracture, Osteolysis involving b... |
ORPHA:73 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Syncope, Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Ventricular a... |
OMIM:611818 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Prolonged PR interval, Atrial fibrillation |
OMIM:108900 |
Megaepiphyseal Dwarfism |
|
Cleft palate |
OMIM:249230 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Shortened PR interval, Permanent a... |
OMIM:108950 |
Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
Hyperinsulinism Due To Insr Deficiency |
|
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Insulin resistan... |
ORPHA:263458 |
Cardiomyopathy, Dilated, 1A |
|
Second degree atrioventricular block, First degree atrioventricular block, Sudden cardiac death, ... |
OMIM:115200 |
Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate |
OMIM:119540 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
Cardiomyopathy, Dilated, 1Oo |
|
Reduced left ventricular ejection fraction, Second degree atrioventricular block, Premature ventr... |
OMIM:620247 |
2q33.1 deletion syndrome |
|
High palate, Cleft palate |
DECIPHER:51 |
Long Qt Syndrome 6 |
|
Cardiac arrest, Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventri... |
OMIM:613693 |
Long Qt Syndrome 1 |
|
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Ventricular fibrillati... |
OMIM:192500 |
Sclerosteosis |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:3152 |
Cleft Palate-Lateral Synechia Syndrome |
|
Narrow mouth, Everted lower lip vermilion, Oral synechia, Cleft palate |
ORPHA:2016 |
Osteochondrosis Of The Metatarsal Bone |
|
Sclerosis of foot bone, Thickened cortex of bones, Joint stiffness, Arthritis |
ORPHA:564003 |
Heart-Hand Syndrome, Slovenian Type |
|
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Supraventricular arrhythmia, Di... |
ORPHA:168796 |
Osteosarcoma |
|
Osteolysis, Pathologic fracture |
ORPHA:668 |
Atrial Fibrillation, Familial, 3 |
|
Prolonged QTc interval, Paroxysmal atrial fibrillation, Syncope, Sudden cardiac death, Permanent ... |
OMIM:607554 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, Left bundle branch block, First degree atrioventricular block |
OMIM:615616 |
Keratoderma Hereditarium Mutilans |
|
Osteolysis |
ORPHA:494 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones |
OMIM:607634 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Atrial Septal Defect, Ostium Primum Type |
|
Right bundle branch block, Pulmonary arterial hypertension, Third heart sound, Mitral regurgitati... |
ORPHA:99106 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Flattened epiphysis, Cleft hard palate, Knee flexion contracture, Dislocate... |
ORPHA:166016 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Synovitis, Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids |
OMIM:609655 |
Brugada Syndrome 3 |
|
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation... |
OMIM:611875 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Bifid uvula, Cleft palate |
OMIM:258320 |
Ramon Syndrome |
|
Osteolysis |
ORPHA:3019 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology |
ORPHA:1802 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Palpitations, S... |
OMIM:604400 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Ventricular tachycardia, Prolonged QRS complex, Right ventricular cardiomyopathy, Syncope, T-wave... |
OMIM:611528 |
Talo-Patello-Scaphoid Osteolysis |
|
Synovitis, Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids |
ORPHA:50809 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Recurrent hypoglycemia, Fasting hyperinsulinemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Van Der Woude Syndrome 1 |
|
Bifid uvula, Cleft palate, Hypodontia, Cleft upper lip, Lower lip pit |
OMIM:119300 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Osteolysis, Metacarpal osteolysis, Carpal osteolysis, Limitation of join... |
ORPHA:2774 |
Short Stature Due To Partial Ghr Deficiency |
|
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 |
ORPHA:314802 |
Ollier Disease |
|
Osteolysis, Joint stiffness |
ORPHA:296 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Brugada Syndrome 7 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Atrial flutter, Prolonged P wave, Permanent... |
OMIM:613120 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Prolonged QTc interval, Left anterior fascicular block, Mitral regurgitation, Sudden cardiac deat... |
OMIM:617047 |
Long Qt Syndrome 15 |
|
Cardiac arrest, Prolonged QTc interval, Syncope, Ventricular bigeminy, Polymorphic ventricular ta... |
OMIM:616249 |
Familial Progressive Cardiac Conduction Defect |
|
Heart block, Syncope, Arrhythmia, Bundle branch block, Congestive heart failure |
ORPHA:871 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Hypothyroidism, Hyperglycemia, Transient neonatal diabetes mellitus, Hypoinsul... |
ORPHA:99886 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Lethal Congenital Contracture Syndrome 3 |
|
Arthrogryposis multiplex congenita, Multiple joint contractures, Neonatal death |
OMIM:611369 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Cardiomyopathy, Arrhythmia |
OMIM:300376 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Tenosynovial Giant Cell Tumor |
|
Osteolysis, Joint stiffness, Limitation of joint mobility, Localized osteoporosis |
ORPHA:66627 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Arrhythmia, Bundle branch block |
ORPHA:1479 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Sprengel Deformity |
|
Cleft palate |
ORPHA:3181 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Long Qt Syndrome 12 |
|
Prolonged QTc interval, Syncope, Torsade de pointes, Ventricular fibrillation |
OMIM:612955 |
Cleft Lip With Or Without Cleft Palate |
|
Median cleft lip and palate, Median cleft lip, Non-midline cleft lip, Non-midline cleft palate, S... |
ORPHA:1991 |
Brugada Syndrome 6 |
|
Cardiac arrest, ST segment elevation, Ventricular fibrillation |
OMIM:613119 |
Van Buchem Disease |
|
Increased bone mineral density, Thickened cortex of long bones, Cranial hyperostosis |
OMIM:239100 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Reduced left ventricular ejection fraction, Arrhythmia, Supraventricular tachycardi... |
ORPHA:45452 |
Caffey Disease |
|
Calvarial hyperostosis, Cortical irregularity, Joint hypermobility, Periosteal thickening of long... |
OMIM:114000 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Torsade de pointes, Syncope, Sudden cardiac death, Premature ventricular contraction, Prolonged Q... |
OMIM:612347 |
Cardiomyopathy, Dilated, 1Nn |
|
Mitral regurgitation, Reduced left ventricular ejection fraction, Abnormal ST segment, Congestive... |
OMIM:615916 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
Hutchinson-Gilford Progeria Syndrome |
|
Generalized osteoporosis, Osteolysis |
OMIM:176670 |
Brugada Syndrome 8 |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block |
OMIM:613123 |
Osteopetrosis, Autosomal Dominant 2 |
|
Generalized osteosclerosis, Osteopetrosis, Recurrent fractures, Mandibular osteomyelitis, Fractur... |
OMIM:166600 |
Parc Syndrome |
|
Cleft palate |
OMIM:600331 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... |
OMIM:604169 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Syncope, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation |
OMIM:600919 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Limitation of joint mobility, Abnormal cortical bone morphology, Pathologic fracture |
ORPHA:166277 |
Desmoid Tumor |
|
Osteolysis, Limitation of joint mobility |
ORPHA:873 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Absent P wave, Palpitations, First degree atrioventricular block, Sudden cardiac death, Atriovent... |
OMIM:310300 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Cardiac arrest, Syncope, Polymorphic ventricular tachycardia, Premature ventricular contraction, ... |
OMIM:615441 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft upper lip, Cleft palate |
OMIM:137215 |
Short Qt Syndrome 1 |
|
Cardiac arrest, Paroxysmal atrial fibrillation, Syncope, Palpitations, Shortened QT interval, Sud... |
OMIM:609620 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Cardiac arrest, Supraventricular tachycardia, Atrioventricular block, Dilated cardiomyopathy, Hyp... |
OMIM:612158 |
Weaver-Williams Syndrome |
|
Narrow mouth, Cleft palate |
ORPHA:3448 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Reduced circulating growth hormone concentration, Hypoglycemia, Decreased serum insulin-like grow... |
OMIM:262400 |
Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin resistance, Hyperin... |
ORPHA:411593 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteolysis, Osteomalacia, Coarse metaphyseal trabecularization, Bone cyst, Recurrent fractures, A... |
ORPHA:93160 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Ventricular Tachycardia, Familial |
|
Cardiomyopathy, Right bundle branch block, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Bifid Uvula |
|
Submucous cleft soft palate, Bifid uvula, Cleft lip |
ORPHA:99771 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Sick Sinus Syndrome 3, Susceptibility To |
|
Sick sinus syndrome |
OMIM:614090 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Cardiac arrest, Ventricular tachycardia, Syncope, Palpitations, Bidirectional ventricular tachyca... |
OMIM:614021 |
Craniorachischisis |
|
Anal atresia, Bifid sternum |
ORPHA:63260 |
Cardiomyopathy, Dilated, 1Bb |
|
Severely reduced left ventricular ejection fraction, Left bundle branch block, Congestive heart f... |
OMIM:612877 |
Atrial Standstill |
|
Mobitz I atrioventricular block, Ventricular tachycardia, Reduced left ventricular ejection fract... |
ORPHA:1344 |
Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
Cranio-Osteoarthropathy |
|
Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness, Arthritis |
ORPHA:1525 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Insulinoma, Type II diabetes ... |
OMIM:147630 |
Caffey Disease |
|
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Periosteal thickening of long... |
ORPHA:1310 |
Long Qt Syndrome 5 |
|
Prolonged QTc interval, Torsade de pointes, Syncope, Sudden cardiac death, Sinus bradycardia, Ven... |
OMIM:613695 |
Classic Hodgkin Lymphoma |
|
Osteolysis |
ORPHA:391 |
Short Stature Due To Ghsr Deficiency |
|
Delayed puberty, Hypoglycemia, Decreased serum insulin-like growth factor 1 |
ORPHA:314811 |
Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
Short Qt Syndrome 7 |
|
Cardiac arrest, Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation |
OMIM:620231 |
Dermatoosteolysis, Kirghizian Type |
|
Osteolysis, Tarsal synostosis, Osteoarthritis |
ORPHA:1657 |
Brugada Syndrome 1 |
|
Cardiac arrest, Syncope, Supraventricular tachycardia with an accessory connection mediated pathw... |
OMIM:601144 |
Maffucci Syndrome |
|
Osteolysis, Recurrent fractures |
ORPHA:163634 |
Atrial Septal Defect, Sinus Venosus Type |
|
Right bundle branch block, Pulmonary arterial hypertension, Systolic heart murmur, Automatic atri... |
ORPHA:99105 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia |
OMIM:240600 |
Infantile Myofibromatosis |
|
Bone cyst, Osteolysis, Limitation of joint mobility |
ORPHA:2591 |
Congenital Left Ventricular Aneurysm |
|
Arrhythmia, Abnormal T-wave, Congestive heart failure, Abnormal ST segment |
ORPHA:1055 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Abnormal circulating insulin concentration, Elevated circulating thyroid-st... |
ORPHA:171706 |
Cleft Palate, Deafness, And Oligodontia |
|
Oligodontia of primary teeth, Short hallux, No permanent dentition, Cleft soft palate, Sandal gap |
OMIM:216300 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Abnormal liver parenchyma morphology, Abnormality of the pancreas |
ORPHA:3032 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Cleft palate, Abnormal rib morphology, Hypoplastic distal segments of scapulae,... |
OMIM:602196 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Frank-Ter Haar Syndrome |
|
Camptodactyly of finger, Osteolysis, Joint stiffness |
ORPHA:137834 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Craniofacial osteosclerosis, Osteolysis, Hyperostosis, Arthritis, Osteomyelitis |
ORPHA:324964 |
Pyle Disease |
|
Thin bony cortex, Limited elbow extension, Reduced bone mineral density |
OMIM:265900 |
Arthrogryposis, Distal, Type 1C |
|
Pursed lips, High palate, Camptodactyly of finger, Camptodactyly of toe, Bifid uvula, Cleft lip, ... |
OMIM:619110 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Partial duplication of the distal phalanx of the hallux, Bifid uvula, Bifid distal phalanx of the... |
ORPHA:2669 |
Paget Disease Of Bone 2, Early-Onset |
|
Osteolysis, Osteosclerosis of the ulna, Increased susceptibility to fractures, Sclerosis of skull... |
OMIM:602080 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
Eiken Syndrome |
|
Abnormal trabecular bone morphology, Limited elbow flexion, Delayed epiphyseal ossification, Thin... |
ORPHA:79106 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test, Hypoglycemia... |
OMIM:262700 |
Nephrosis With Deafness And Urinary Tract And Digital Malformations |
|
Partial duplication of the distal phalanx of the hallux, Bifid uvula, Short distal phalanx of the... |
OMIM:256200 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteolysis, Osteoporosis, Osteolysis involving bones of the lower limbs, Carpal osteolysis, Osteo... |
ORPHA:371428 |
Holzgreve Syndrome |
|
Cleft upper lip, Cleft palate |
OMIM:236110 |
Pulmonary Hypertension, Primary, 4 |
|
Pulmonary arterial hypertension, First degree atrioventricular block, Elevated pulmonary artery p... |
OMIM:615344 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Thi... |
OMIM:601419 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Calvarial hyperostosis, Osteolysis, Increased susceptibility to fractures, Pathologic fracture |
ORPHA:52430 |
Brugada Syndrome 4 |
|
Syncope, Atrial fibrillation, Shortened QT interval |
OMIM:611876 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Aggressive behavior, Hyperinsulinemia |
ORPHA:329249 |
Van Der Woude Syndrome 2 |
|
Anodontia, Cleft palate, Dental malocclusion, Hypodontia, Lip pit, Cleft upper lip |
OMIM:606713 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Rickets, Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Thi... |
OMIM:600785 |
Diaphanospondylodysostosis |
|
Enlarged thorax, Absent or minimally ossified vertebral bodies, Missing ribs, Cleft palate, Abnor... |
ORPHA:66637 |
Coffin-Lowry Syndrome |
|
Open mouth, High palate, Bifid sternum, Pectus excavatum, Widely spaced teeth, Coxa valga, Short ... |
OMIM:303600 |
Short Qt Syndrome 2 |
|
Syncope, Shortened QT interval, Sudden cardiac death, Ventricular fibrillation, Bradycardia, Atri... |
OMIM:609621 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Pectus excavatum, Osteoarthritis, Abnormal metacarpal morphology, Cleft palate, Pectus carinatum,... |
ORPHA:166100 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Stillbirth, Multiple unerupted teeth, Crowded maxillary incisors |
OMIM:183300 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Joint stiffness, Abnormal cortical bone morphology, Abnormal enchondral ... |
ORPHA:2635 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Osteopetrosis, Cortical sclerosis, Pathologic fracture |
OMIM:620366 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Reduced left ventricular ejection fraction, Palpitations, Sudden cardiac death, R... |
OMIM:608751 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Cardiac arrest, Prolonged QTc interval, Left anterior fascicular block, Atrial fibrillation, Paro... |
OMIM:616117 |
Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Osteolysis, Periostitis, Osteopenia, Osteomyelitis, Fused cervical vertebrae |
OMIM:612852 |
Long Qt Syndrome 8 |
|
Prolonged QTc interval, Syncope, Aborted sudden cardiac death, Sudden cardiac death, Sinus bradyc... |
OMIM:618447 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Pancreatic islet-cell hyperplasia, Progressive neurologic deterioration, Re... |
ORPHA:276608 |
Short Qt Syndrome 3 |
|
Palpitations, Tachycardia, Shortened QT interval |
OMIM:609622 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Arrhythmia, Severely reduced left ventricular ejection fraction, Sudden cardiac death, Congestive... |
OMIM:611705 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
Proprotein Convertase 1/3 Deficiency |
|
Hypoinsulinemia, Reactive hypoglycemia, Hypogonadotropic hypogonadism, Decreased circulating cort... |
OMIM:600955 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft upper lip, Cleft palate |
OMIM:179400 |
Fetal Akinesia Deformation Sequence 4 |
|
High palate, Camptodactyly, Rocker bottom foot, Neonatal death, Prenatal death, 11 pairs of ribs,... |
OMIM:618393 |
Orofacial Cleft 13 |
|
Cleft soft palate, Oligodontia |
OMIM:613857 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypoins... |
ORPHA:453533 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
Glycogen Storage Disease Xv |
|
ST segment elevation, Ventricular fibrillation, Paroxysmal ventricular tachycardia, T-wave invers... |
OMIM:613507 |
Romano-Ward Syndrome |
|
Prolonged QTc interval, Abnormal T-wave, Torsade de pointes, Syncope, Sudden cardiac death, Sinus... |
ORPHA:101016 |
Van Der Woude Syndrome |
|
Abnormal salivary gland morphology, Cleft palate, Hypodontia, Lip pit, Cleft upper lip, Lower lip... |
ORPHA:888 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Cardiac arrest, Ventricular tachycardia, Prolonged QRS complex, Epsilon wave, Right ventricular c... |
OMIM:609040 |
Mucopolysaccharidosis, Type Ix |
|
Finger joint hypermobility, Bifid uvula, Hyperextensibility at wrists, Hyperextensibility at elbo... |
OMIM:601492 |
Orofaciodigital Syndrome Type 5 |
|
Abnormality of the philtrum, Postaxial foot polydactyly, Bifid uvula, Postaxial polysyndactyly of... |
ORPHA:2919 |
Mody |
|
Neonatal hypoglycemia, Abnormal circulating insulin concentration, Glycosuria, Abnormal oral gluc... |
ORPHA:552 |
Attrv30M Amyloidosis |
|
Arrhythmia, Cardiomyopathy, Atrioventricular block |
ORPHA:85447 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Fasting hypoglycemia, Maternal diabetes, Neonatal hypoglycemia, Excessive insulin response to glu... |
ORPHA:324575 |
Osteogenesis Imperfecta, Type Xxii |
|
Thin bony cortex, Reduced bone mineral density, Multiple prenatal fractures, Recurrent fractures |
OMIM:619795 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
Facial Clefting, Oblique, 1 |
|
Cleft upper lip, Cleft palate |
OMIM:600251 |
Desminopathy |
|
Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Supraventricular arrhythmia, Conges... |
ORPHA:98909 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... |
OMIM:613243 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Asymmetric septal hypertrophy, Ventricular tachycardia, Palpitations, Supraventricular tachycardi... |
OMIM:608758 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Osteolysis, Ankylosis |
ORPHA:659 |
Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis |
OMIM:615085 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Reduced left ventricular ejection fraction, Abnormal ST segment, Restrictive cardiom... |
OMIM:612422 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Left anterior fascicular block, Reduced left ventricular ejection fraction, Syncope, Arrhythmia, ... |
OMIM:181350 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Cleft palate |
OMIM:217150 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Reactive hypoglycemia, Hyperinsulinemic hypoglycemia |
ORPHA:35878 |
Ck Syndrome |
|
Joint hypermobility, Abnormal cortical bone morphology |
OMIM:300831 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Heart block, Syncope, Supraventricular tachycardia, Sinoatrial block, Sudden cardiac death, Atria... |
ORPHA:300751 |
Gamma-Heavy Chain Disease |
|
Osteolysis, Rheumatoid arthritis |
ORPHA:100026 |
Osteopetrosis, Autosomal Recessive 4 |
|
Increased bone mineral density, Osteopetrosis, Recurrent fractures |
OMIM:611490 |
Grant Syndrome |
|
Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification |
ORPHA:2097 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Adducted Thumbs Syndrome |
|
Craniosynostosis, High palate, High, narrow palate, Cleft palate, Velopharyngeal insufficiency, A... |
OMIM:201550 |
Proteus Syndrome |
|
Calvarial hyperostosis, Thin bony cortex, Facial hyperostosis, Mandibular hyperostosis |
OMIM:176920 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Lip pit, Non-midline cleft lip, Cleft palate |
ORPHA:1072 |
Long Qt Syndrome 3 |
|
Prolonged QTc interval, Ventricular tachycardia, Torsade de pointes, Syncope, Sudden cardiac deat... |
OMIM:603830 |
Orofaciodigital Syndrome Iii |
|
Postaxial foot polydactyly, Pectus excavatum, Bifid uvula, Microdontia, Short sternum, Supernumer... |
OMIM:258850 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Anencephaly 2 |
|
Median cleft palate, Cleft maxillary alveolar ridge, Median cleft lip |
OMIM:619452 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal cortical bone morphology, Limitation of joint mobility, Recurrent fractures |
ORPHA:1486 |
Acropectorovertebral Dysplasia |
|
Camptodactyly of finger, Short distal phalanx of finger, Pectus excavatum, Finger syndactyly, Syn... |
ORPHA:957 |
Congenital Velopharyngeal Incompetence |
|
Abnormal palate morphology, Velopharyngeal insufficiency |
ORPHA:2291 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Camptodactyly of finger, Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2521 |
Felty Syndrome |
|
Limitation of joint mobility, Synovitis, Osteolysis, Arthritis |
ORPHA:47612 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Angioosteohypotrophic Syndrome |
|
Thin bony cortex, Abnormal trabecular bone morphology |
ORPHA:75508 |
Diffuse Cutaneous Systemic Sclerosis |
|
Flexion contracture, Osteolysis, Arthritis |
ORPHA:220393 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Palpitations, Premature ventricular contraction, Presyncope, Left bundle... |
OMIM:618920 |
Arthrogryposis, Distal, Type 3 |
|
Down-sloping shoulders, Camptodactyly of finger, High palate, Camptodactyly of toe, Congenital hi... |
OMIM:114300 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, Short distal phalanx of finger, Submucous cleft hard palate, Short 4th m... |
ORPHA:3201 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia |
ORPHA:366 |
Coffin-Siris Syndrome 11 |
|
Esophageal atresia, High palate, Bifid uvula, Downturned corners of mouth, Small hand, Cleft soft... |
OMIM:618779 |
Aggressive Systemic Mastocytosis |
|
Osteoporosis, Osteolysis, Pathologic fracture |
ORPHA:98850 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteolysis, Acroosteolysis of distal phalanges (feet), Osteolytic defects of the distal phalanges... |
ORPHA:90153 |
Cleft Lip/Palate |
|
Abnormality of dental eruption, Unilateral cleft palate, Abnormal number of permanent teeth, Clef... |
ORPHA:199306 |
Sapho Syndrome |
|
Craniofacial osteosclerosis, Osteolysis, Enthesitis, Hyperostosis, Arthritis, Osteomyelitis, Recu... |
ORPHA:793 |
Nestor-Guillermo Progeria Syndrome |
|
Osteolysis, Progressive clavicular acroosteolysis, Osteolytic defects of the distal phalanges of ... |
OMIM:614008 |
Gaucher Disease Type 1 |
|
Increased bone mineral density, Osteolysis, Pathologic fracture, Osteoarthritis, Osteopenia |
ORPHA:77259 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Fasting hypoglycemia, Maternal diabetes, Excessive insulin response to glucagon test, Abnormal or... |
ORPHA:276580 |
Pachydermoperiostosis |
|
Osteolysis, Abnormal cortical bone morphology, Osteoporosis, Arthritis, Osteomyelitis, Limitation... |
ORPHA:2796 |
Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
Kearns-Sayre Syndrome |
|
Third degree atrioventricular block |
ORPHA:480 |
Fibrous Dysplasia Of Bone |
|
Rickets, Patchy reduction of bone mineral density, Osteolysis, Fibrous dysplasia of the bones, Pa... |
ORPHA:249 |
Insulinoma |
|
Pituitary prolactin cell adenoma, Transient global amnesia, Anxiety, Fasting hyperinsulinemia, Re... |
ORPHA:97279 |
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft lip, Cleft palate |
OMIM:612370 |
Stuve-Wiedemann Syndrome 2 |
|
Thoracic hypoplasia, Camptodactyly, Death in adolescence, Neonatal death, Stillbirth, Short long ... |
OMIM:619751 |
Obesity Due To Sim1 Deficiency |
|
Cognitive impairment, Glucose intolerance, Memory impairment, Hyperinsulinemia |
ORPHA:369873 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Narrow greater sciatic notch, Hip dysplasia, Abnormal metaphysis morphology, Irregular iliac cres... |
ORPHA:93316 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Acroosteolysis of distal phalanges (feet), Osteolysis, Osteolytic defects of the distal phalanges... |
ORPHA:90154 |
Chromomycosis |
|
Osteolysis, Ankylosis |
ORPHA:182 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Neonatal hypoglycemia, Abnormal circulating insulin concentration, Nonketotic hypoglycemia, Hypog... |
ORPHA:293964 |
Congenital Myopathy 24 |
|
Cardiomyopathy, First degree atrioventricular block |
OMIM:617336 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft upper lip, Cleft palate |
OMIM:120433 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Cardiac arrest, Reduced left ventricular ejection fraction, Syncope, First degree atrioventricula... |
OMIM:115197 |
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome |
|
Non-midline cleft lip, Cleft palate |
ORPHA:1484 |
Dysosteosclerosis |
|
Oligodontia, Increased susceptibility to fractures, Diaphyseal thickening, Short sternum, Prematu... |
OMIM:224300 |
Osteopetrosis, Autosomal Recessive 2 |
|
Diaphyseal sclerosis, Osteopetrosis, Osteomyelitis, Recurrent fractures, Cranial hyperostosis, Ma... |
OMIM:259710 |
Glucocorticoid Resistance, Generalized |
|
Increased circulating androstenedione concentration, Increased circulating ACTH level, Increased ... |
OMIM:615962 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal bone structure, Mandibular osteomyelitis, Multiple bony cystic lesions, Abnormal trabecu... |
ORPHA:83451 |
Cardiomyopathy, Dilated, 1D |
|
Reduced left ventricular ejection fraction, Sudden cardiac death, Congestive heart failure, Sinus... |
OMIM:601494 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Oligodontia, Abnormality of the dentition, Camptodactyly, Short distal phalanx of finger, Calvari... |
OMIM:616331 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemic seizures, Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concent... |
OMIM:620211 |
Orofaciodigital Syndrome Xix |
|
High palate, Postaxial foot polydactyly, Type A brachydactyly, Accessory oral frenulum, Microdont... |
OMIM:620107 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Pectus excavatum, Unilateral cleft palate, Unilateral cleft lip, Submucous cleft hard palate, Sca... |
OMIM:619122 |
Sick Sinus Syndrome 2 |
|
Cardiac arrest, Prolonged QTc interval, Paroxysmal atrial fibrillation, Torsade de pointes, Synco... |
OMIM:163800 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Posteriorly placed tongue, Aplasia/Hypoplasia of the distal phalanges of the toes, Pierre-Robin s... |
OMIM:192445 |
Bencze Syndrome |
|
Open bite, Submucous cleft hard palate |
ORPHA:1241 |
Bamforth-Lazarus Syndrome |
|
Cleft palate |
OMIM:241850 |
Craniosynostosis 2 |
|
Craniosynostosis, Bicoronal synostosis, Unicoronal synostosis, Supernumerary tooth, Cleft soft pa... |
OMIM:604757 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Fasting hypoglycemia, Excessive insulin response to glucagon test, Hyperinsulinemia, Hypoglycemic... |
ORPHA:276575 |
Cerebrocostomandibular Syndrome |
|
Cleft palate, Carious teeth, 11 pairs of ribs, Anal stenosis, 10 pairs of ribs, Bell-shaped thora... |
OMIM:117650 |
Gitelman Syndrome |
|
Raynaud phenomenon, Abnormal T-wave, Syncope, Palpitations, Low-to-normal blood pressure, Promine... |
ORPHA:358 |
Diprosopus |
|
Non-midline cleft lip, Cleft palate |
ORPHA:1681 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin |
OMIM:609438 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Unilateral cleft lip, Bifid uvula, Cleft palate |
ORPHA:2736 |
Danon Disease |
|
Ventricular tachycardia, Wolff-Parkinson-White syndrome, Syncope, Severely reduced left ventricul... |
OMIM:300257 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Diabetes mellitus, Insulin resistance, Hyperinsulinemia |
ORPHA:79084 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Hyperinsulinemia, Hyperglycemia, Diabetic ketoa... |
OMIM:262190 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Clinodactyly, Camptodactyly, Abnormality of the dentition, Broad thumb, Long philtrum, Absent uvu... |
OMIM:618529 |
Orofaciodigital Syndrome Type 10 |
|
Oligodactyly, Preaxial polydactyly, Metatarsal synostosis, Polysyndactyly of hallux, Hypoplasia o... |
ORPHA:2756 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Emotional lability, Hypoplasia of the ovary, Hyperinsulinemia, Hypergonadotropic hypogonadism, De... |
ORPHA:179494 |
Glucocorticoid Deficiency 2 |
|
Recurrent hypoglycemia, Increased circulating ACTH level, Decreased circulating cortisol level |
OMIM:607398 |
Osteogenesis Imperfecta, Type Xviii |
|
Generalized osteoporosis, Joint laxity, Recurrent fractures, Thin bony cortex, Joint hypermobility |
OMIM:617952 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Reduced left ventricular ejection fraction, Arrhythmia, Angina pectoris, Restrictiv... |
ORPHA:85451 |
Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Neonatal death, Cleft palate |
OMIM:615524 |
Papillon-Lefèvre Syndrome |
|
Osteolysis |
ORPHA:678 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Thin bony ... |
OMIM:600081 |
Mixed Connective Tissue Disease |
|
Osteolysis, Joint stiffness, Arthritis |
ORPHA:809 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex |
OMIM:619638 |
Achondrogenesis, Type Ii |
|
Horizontal ribs, Short ribs, Broad long bones, Hypoplastic iliac wing, Cleft palate, Stillbirth, ... |
OMIM:200610 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Reduced circulating growth hormone concentration, Neonatal hypoglycemia, Abnormal circulating adr... |
OMIM:262600 |
Oculofaciocardiodental Syndrome |
|
Oligodontia, Abnormality of the dentition, Tooth malposition, Abnormal palate morphology, Short t... |
ORPHA:2712 |
Thanatophoric Dysplasia, Type Ii |
|
Hypoplastic ilia, Short greater sciatic notch, Short ribs, Neonatal death, Metaphyseal irregulari... |
OMIM:187601 |
Schneckenbecken Dysplasia |
|
Thoracic hypoplasia, Lateral clavicle hook, Flat acetabular roof, Short ribs, Advanced ossificati... |
OMIM:269250 |
Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Abnormal liver parenc... |
ORPHA:64743 |
Limb-Mammary Syndrome |
|
Camptodactyly, Hallux valgus, Bifid uvula, Syndactyly, Cleft palate, Hypodontia, Joint contractur... |
OMIM:603543 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
Cleft Velum |
|
Cleft soft palate, Velopharyngeal insufficiency |
ORPHA:99772 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemia |
ORPHA:71529 |
Cree Mental Retardation Syndrome |
|
Aplasia/Hypoplasia of the ribs, Pectus excavatum, Rocker bottom foot, Cutaneous finger syndactyly... |
OMIM:606851 |
Tenorio Syndrome |
|
Emotional lability, Hypoinsulinemia, Anxiety, Hypoglycemia |
OMIM:616260 |
Microphthalmia, Syndromic 11 |
|
Cleft upper lip, Cleft palate |
OMIM:614402 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Rickets, Osteomalacia, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone tra... |
OMIM:300554 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Abnormal metaphysis morphology, Bifid uvula, Asymmetry of the tho... |
ORPHA:2780 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatocellular carcinoma, Pancreatitis, Elevated circulating alanine aminotransferase concentrati... |
OMIM:603471 |
Heart Block, Congenital |
|
Mitral regurgitation, Cardiomyopathy, Atrioventricular block, Absent atrioventricular node, Atria... |
OMIM:234700 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
Amish Lethal Microcephaly |
|
Osteoporosis, Death in infancy, Decreased skull ossification, Limitation of joint mobility, Cleft... |
ORPHA:99742 |
Chromosome 17Q12 Duplication Syndrome |
|
Esophageal atresia, Broad thumb, Smooth philtrum, Cleft soft palate, Brachydactyly |
OMIM:614526 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis |
OMIM:617306 |
Familial Dysautonomia |
|
Osteolysis, Recurrent fractures |
ORPHA:1764 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lower limbs, Ost... |
ORPHA:464321 |
Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Third heart sound, Systolic heart murmur, Elevated jugular venous pressure, Pulmona... |
ORPHA:1329 |
Atrial Septal Defect, Ostium Secundum Type |
|
Pulmonary arterial hypertension, Mitral regurgitation, Systolic heart murmur, Right ventricular f... |
ORPHA:99103 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Delayed puberty, Central adrenal insufficiency, Decreased response to growth hormone stimulation ... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Delayed puberty, Central adrenal insufficiency, Decreased response to growth hormone stimulation ... |
ORPHA:71526 |
Weismann-Netter Syndrome |
|
Abnormal cortical bone morphology |
ORPHA:3344 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Ventricular tachycardia, Hypotension, Cardiomyopathy, Premature ventricular contr... |
OMIM:212138 |
Faciocardiomelic Dysplasia, Lethal |
|
Short thumb, Hypoplasia of the radius, Neonatal death, Narrow mouth, Short 5th finger, Microgloss... |
OMIM:227270 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Reduced left ventricular ejection fraction, Pulmonary venous hypertension,... |
ORPHA:75565 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ectopic anus, Non-midline cleft lip, Cleft palate |
ORPHA:2476 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Osteolysis, Joint contracture of the hand, Pathologic fracture |
OMIM:263700 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia |
OMIM:620195 |
Developmental And Epileptic Encephalopathy 101 |
|
Bradycardia, Third degree atrioventricular block |
OMIM:619814 |
Orofaciodigital Syndrome Type 3 |
|
Postaxial foot polydactyly, Abnormality of the dentition, Pectus excavatum, Irregular dentition, ... |
ORPHA:2752 |
Timothy Syndrome |
|
Pulmonary arterial hypertension, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pr... |
OMIM:601005 |
Osteopetrosis, Autosomal Recessive 1 |
|
Craniosynostosis, Increased bone mineral density, Pathologic fracture, Calvarial osteosclerosis, ... |
OMIM:259700 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Glycosuria, Ketotic hypoglycemia, Irritability |
ORPHA:2089 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Excessive insulin response to glucagon test, Recurrent hypoglycemia, Reactive hypoglycemia, Hypog... |
ORPHA:276556 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Thin bony cortex, Increased bone mineral density, Wide anterior fontanel, Osteopenia |
ORPHA:85184 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recur... |
OMIM:241530 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Syncope, Palpitations, Second degree atrioventricular block, Sinus bradycardia |
OMIM:616812 |
Kaposiform Lymphangiomatosis |
|
Osteolysis, Fractures of the long bones |
ORPHA:464329 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
ST segment elevation, Prolonged QRS complex, Hypotension, Cardiomyopathy, ST segment depression, ... |
OMIM:261740 |
Osteopetrosis, Autosomal Recessive 3 |
|
Diaphyseal sclerosis, Osteopetrosis, Cranial hyperostosis |
OMIM:259730 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Submucous cleft hard palate, Syndactyly, Cleft palate, Clinodactyly of the 5th finger, Short femo... |
OMIM:614701 |
Obsolete: Early-Onset Schizophrenia |
|
Emotional lability, Abnormal emotion/affect behavior, Suicidal ideation, Cognitive impairment, Un... |
ORPHA:96369 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Delayed puberty, Delayed thelarche, Hyperinsulinemic hypoglycemia |
OMIM:616033 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures |
ORPHA:77261 |
Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Short finger, Death in infancy, Neonatal death, Everted lower lip vermilion |
OMIM:242500 |
Microtia, Hearing Impairment, And Cleft Palate |
|
Cleft palate |
OMIM:612290 |
Multiple Synostoses Syndrome 1 |
|
Lower limb undergrowth, Carpal synostosis, Absent distal phalanges, Short hallux, Asymmetry of th... |
OMIM:186500 |
H Syndrome |
|
Camptodactyly, Osteolysis, Recurrent fractures |
ORPHA:168569 |
Cardiogenic Shock |
|
Cardiac arrest, Abnormal EKG, ST segment elevation, Mitral regurgitation, Hypotension, Elevated j... |
ORPHA:97292 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteolysis, Osteomyelitis |
ORPHA:35687 |
Steinert Myotonic Dystrophy |
|
Prolonged QRS complex, Left ventricular systolic dysfunction, Supraventricular tachycardia, Prolo... |
ORPHA:273 |
Stickler Syndrome, Type I |
|
Pectus excavatum, Joint stiffness, Bifid uvula, Abnormal femoral epiphysis morphology, Submucous ... |
OMIM:108300 |
W Syndrome |
|
Camptodactyly, Broad uvula, Radial bowing, Upper lip pit, Submucous cleft hard palate, Metatarsus... |
ORPHA:2804 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Paroxysmal atrial fibrillation, Reduced left ventricular ejection fraction, Syncope, Palpitations... |
ORPHA:1677 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Open mouth, High palate, Bifid uvula, Submucous cleft hard palate, Supernumerary tooth, Thin verm... |
OMIM:617412 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Congenital pyloric atresia, Oral mucosal blisters, Neonatal death, Esophageal stenosis |
OMIM:619817 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Short humerus, High palate, Submucous cleft hard palate, Osteopenia, Epiphyseal stippling, Flexio... |
OMIM:222765 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Osteolysis involving bones of the upper limbs, Flexion contracture, Camptodactyly, Osteolysis inv... |
ORPHA:88630 |
Neonatal Lupus Erythematosus |
|
Abnormal electrophysiology of sinoatrial node origin, Heart block, Arrhythmia, Atrioventricular b... |
ORPHA:398124 |
Coronary Arterial Fistula |
|
Abnormal EKG, Pulmonary arterial hypertension, Systolic heart murmur, Continuous heart murmur, Sy... |
ORPHA:2041 |
Loeys-Dietz Syndrome 5 |
|
High palate, Pectus excavatum, Bilateral coxa valga, Bifid uvula, Flexion contracture of toe, Hia... |
OMIM:615582 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Neonat... |
ORPHA:79644 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Increased bone mineral density, Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of pr... |
ORPHA:85188 |
Ebstein Anomaly |
|
Right bundle branch block, Atrial standstill, Sudden cardiac death, Ventricular preexcitation, At... |
OMIM:224700 |
Plin1-Related Familial Partial Lipodystrophy |
|
Abnormal circulating hormone concentration, Hyperinsulinemia, Insulin-resistant diabetes mellitus... |
ORPHA:280356 |
Estrogen Resistance |
|
Delayed puberty, Increased circulating osteocalcin level, Impaired glucose tolerance, Increased s... |
OMIM:615363 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Absent thumb, Submucous cleft hard palate, Bifid uvula |
OMIM:619239 |
Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Joint hyperflexibility, Osteolytic ... |
ORPHA:2484 |
Encephalocraniocutaneous Lipomatosis |
|
Bone cyst, Osteolysis, Craniofacial hyperostosis |
ORPHA:2396 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Cognitive impairment, Hypoglycemia |
ORPHA:364 |
Alpha-Mannosidosis, Infantile Form |
|
Craniosynostosis, Osteolysis, Joint stiffness, Cortical thickening of long bone diaphyses, Osteop... |
ORPHA:309282 |
Bdv Syndrome |
|
Delayed puberty, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Decreas... |
OMIM:619326 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Bradycardia, Atrioventricular block |
OMIM:614407 |
Solitary Fibrous Tumor |
|
Hypoinsulinemia, Recurrent hypoglycemia, Hypoglycemia |
ORPHA:2126 |
Chikungunya |
|
Osteolysis, Joint stiffness, Enthesitis, Stiff interphalangeal joints, Arthritis, Periostitis, Sy... |
ORPHA:324625 |
Lymphatic Malformation 5 |
|
Cleft palate |
OMIM:153200 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Palpitations, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardi... |
OMIM:615745 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Reduced circulating growth hormone concentration, Neonatal hypoglycemia, Decreased circulating fo... |
OMIM:613986 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Cardiomyopathy |
ORPHA:1177 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Pierre-Robin sequence, Cleft soft palate, Thin upper lip vermilion, Clinodactyly of the 5th finger |
OMIM:620183 |
Dent Disease 1 |
|
Rickets, Osteomalacia, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractur... |
OMIM:300009 |
Schilbach-Rott Syndrome |
|
Bifid uvula, Submucous cleft hard palate, 3-4 finger cutaneous syndactyly, Narrow mouth, Clinodac... |
OMIM:164220 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Flexion contracture, Bone cyst, Osteolysis, Hip contracture |
ORPHA:3042 |
Birk-Barel Syndrome |
|
High palate, Bifid uvula, Tented upper lip vermilion, Submucous cleft soft palate, Short philtrum |
OMIM:612292 |
Myhre Syndrome |
|
Craniofacial hyperostosis, Abnormal lip morphology, Joint stiffness, Bifid uvula, Unilateral clef... |
ORPHA:2588 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Hyperinsulinemia, Hyperglycemia, Type II diabetes mellitus, Insulin resistance... |
OMIM:604367 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, ST segment elevation, Mitral regurgitation, Hypotension, Syncope, Palpita... |
ORPHA:66529 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Osteopetrosis |
ORPHA:3240 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypoplasia of the ovary, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased serum estrad... |
ORPHA:66628 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Thin bony ... |
OMIM:264700 |
Lyme Disease |
|
Arrhythmia, Atrioventricular block |
ORPHA:91546 |
Vitamin D-Dependent Rickets, Type 2A |
|
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Thin bony ... |
OMIM:277440 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Elbow ankylosis, Abnormal cortical bone morphology, Bifid uvula, Facial hyperostosis, Cleft palat... |
ORPHA:2658 |
Gaucher Disease |
|
Increased bone mineral density, Osteolysis, Joint stiffness, Osteoarthritis, Osteopenia, Recurren... |
ORPHA:355 |
Cryptococcosis |
|
Osteolysis, Osteomyelitis |
ORPHA:1546 |
Myotonic Dystrophy 1 |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block |
OMIM:160900 |
Momo Syndrome |
|
Congenital pseudoarthrosis of the clavicle, High palate, Taurodontia, Dental malocclusion, Long p... |
ORPHA:2563 |
Incontinentia Pigmenti |
|
Camptodactyly of finger, Osteolysis, Spina bifida occulta, Eosinophilia |
ORPHA:464 |
Hepatoerythropoietic Porphyria |
|
Osteoporosis, Osteolysis, Osteopenia |
ORPHA:95159 |
Hajdu-Cheney Syndrome |
|
Osteolysis, Osteoporosis, Osteopenia, Coarse metaphyseal trabecularization, Decreased skull ossif... |
ORPHA:955 |
Orofaciodigital Syndrome Type 2 |
|
Y-shaped metacarpals, Polysyndactyly of hallux, Short tibia, Cleft palate, Preaxial foot polydact... |
ORPHA:2751 |
Buratti-Harel Syndrome |
|
High palate, Bifid uvula, Submucous cleft hard palate, Broad thumb, Velopharyngeal insufficiency,... |
OMIM:619314 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Fasting hypoglycemia, Neonatal hypoglycemia, Glycosuria, Pancreatic islet-cell hyperplasia, Progr... |
ORPHA:263455 |
8Q22.1 Microdeletion Syndrome |
|
Craniosynostosis, Camptodactyly of finger, Abnormality of the dentition, Submucous cleft hard pal... |
ORPHA:178303 |
Familial Renal Glucosuria |
|
Abnormal circulating insulin concentration, Glycosuria, Abnormal oral glucose tolerance, Hypergly... |
ORPHA:69076 |
Loeffler Endocarditis |
|
Left ventricular diastolic dysfunction, Mitral regurgitation, Arrhythmia, Palpitations, Aortic re... |
ORPHA:75566 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Rickets, Osteomalacia, Delayed epiphyseal ossification, Sparse bone trabeculae, Increased suscept... |
ORPHA:289157 |
Tarp Syndrome |
|
High palate, Pectus excavatum, Postaxial polydactyly, Hypoplasia of the radius, Rocker bottom foo... |
OMIM:311900 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
ST segment elevation, Ventricular tachycardia, Arrhythmia, Palpitations, Cardiomyopathy, Ventricu... |
ORPHA:263297 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Camptodactyly of toe, Metatarsal osteolysis, Metacarpal osteolysis, Wrist flexion contracture, Os... |
OMIM:259600 |
Peripartum Cardiomyopathy |
|
Myocarditis, Pulmonary arterial hypertension, Abnormal T-wave, Mitral regurgitation, Ventricular ... |
ORPHA:563 |
Isolated Childhood Apraxia Of Speech |
|
Submucous cleft hard palate, High, narrow palate |
ORPHA:209908 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Flexion contracture, Progressive clavicular acroosteolysis, Acroosteolysis of distal phalanges (f... |
OMIM:608612 |
Occipital Horn Syndrome |
|
Rickets, Osteolysis, Osteoporosis, Synostosis of joints, Osteopenia, Osteomalacia, Joint hyperfle... |
ORPHA:198 |
Tetrasomy 12P |
|
Abnormal soft palate morphology, Anal atresia, Everted lower lip vermilion, Downturned corners of... |
ORPHA:884 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Arrhythmia, Myocardial infarction, Congestive heart failure, Orthostatic hypotensio... |
ORPHA:330001 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Short distal phalanx of finger, Submucous cleft hard palate, Branchial fistula |
OMIM:609166 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Wide anterior fontanel, Abnormal cortical bone morphology |
OMIM:614886 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Cognitive impairment, Insulin resistance, Hyperinsulinemia, Progressive psychomotor deterioration |
ORPHA:363400 |
Momo Syndrome |
|
High palate, Taurodontia, Dental malocclusion, Long philtrum, Smooth philtrum, Delayed eruption o... |
OMIM:157980 |
Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Osteopetrosis, Increased skull ossification |
OMIM:618476 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Atrioventricular block, First degree atrioventricular block |
ORPHA:392 |
Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Oligodactyly, Forearm undergrowth, Absent radius, Missing ribs, Short tibia, Cl... |
OMIM:251230 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Atrioventricular block, Dilated cardiomyopathy... |
ORPHA:98855 |
Retinitis Pigmentosa |
|
Hypogonadism, Type II diabetes mellitus, Hyperinsulinemia |
ORPHA:791 |
Greenberg Dysplasia |
|
Absent or minimally ossified vertebral bodies, Long clavicles, Metaphyseal cupping, Multiple pren... |
OMIM:215140 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Camptodactyly, Acroosteolysis of distal phalanges (feet), Joint stiffness, Progressive clavicular... |
OMIM:248370 |
Congenital Aortic Valve Stenosis |
|
Abnormal T-wave, Reduced left ventricular ejection fraction, Abnormal pulse pressure, Sudden card... |
ORPHA:3093 |
Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Atrioventricular block, Dilated cardiomyopathy... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Atrioventricular block, Dilated cardiomyopathy... |
ORPHA:98853 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Increased circulating ACTH level, Abnormal circulating renin, Abnormal circulating aldosterone, C... |
OMIM:614736 |
Chime Syndrome |
|
Osteolysis |
ORPHA:3474 |
Galactokinase Deficiency |
|
Psychomotor deterioration, Hypoglycemia, Hyperinsulinemia, Hypergonadotropic hypogonadism |
ORPHA:79237 |
Campomelic Dysplasia |
|
Shortening of all phalanges of the toes, Hip dislocation, Thin ribs, Cleft palate, Narrow mouth, ... |
OMIM:114290 |
Native American Myopathy |
|
High palate, Camptodactyly, Bifid uvula, Cleft palate, Downturned corners of mouth, Submucous cle... |
ORPHA:168572 |
Hydrolethalus |
|
Bifid uvula, Unilateral cleft lip, Submucous cleft hard palate, Cleft palate, Postaxial hand poly... |
ORPHA:2189 |
Histiocytoid Cardiomyopathy |
|
Right bundle branch block, Ventricular tachycardia, Wolff-Parkinson-White syndrome, Supraventricu... |
ORPHA:137675 |
Bangstad Syndrome |
|
Primary gonadal insufficiency, Increased circulating cortisol level, Abnormality of the parathyro... |
ORPHA:1227 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ventricular tachycardia, Tachycardia, Arrhythmia, Atrioventricular block, Dilated cardiomyopathy,... |
ORPHA:26793 |
Mosaic Variegated Aneuploidy Syndrome |
|
Osteolysis |
ORPHA:1052 |
Naxos Disease |
|
Prolonged QRS complex, Right ventricular cardiomyopathy, Syncope, Palpitations, Arrhythmia, Sudde... |
OMIM:601214 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
High palate, Submucous cleft hard palate, Dental crowding, Protruding tongue, Thick vermilion bor... |
OMIM:618106 |
Coccidioidomycosis |
|
Osteolysis, Osteomyelitis, Arthritis, Eosinophilia |
ORPHA:228123 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Atrioventricular block, Hypertrophic cardiomyo... |
ORPHA:98863 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Conical tooth, Widely spaced teeth, Submucous cleft hard palate, Finger syndactyly, Cleft palate,... |
ORPHA:1071 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Widely spaced toes, Syndactyly, Neonatal death, Natal tooth, Sandal gap, Tapered distal phalanges... |
OMIM:609638 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Sick sinus syndrome, Premature atrial co... |
ORPHA:216694 |
Osteopetrosis, Autosomal Recessive 7 |
|
Osteopetrosis, Abnormal trabecular bone morphology |
OMIM:612301 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Craniosynostosis, Rickets of the lower limbs, Increased bone mineral density, Enthesitis, Hypopho... |
ORPHA:289176 |
Atelosteogenesis, Type I |
|
Clubbing, Long clavicles, Short metatarsal, Cleft palate, Multinucleated giant chondrocytes in ep... |
OMIM:108720 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism |
ORPHA:3085 |
Bent Bone Dysplasia Syndrome 2 |
|
Short 1st metacarpal, Short lower limbs, Short ribs, Short tibia, Thin ribs, Hypoplastic acetabul... |
OMIM:620076 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Short finger, Oligodontia, High palate, Aplasia of the distal phalanx of the 5th finger, Short di... |
OMIM:608670 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Anal atresia, Horizontal ribs, Lateral clavicle hook, Long thorax, Cleft lip, Preaxial polydactyl... |
OMIM:617925 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Congenital Erythropoietic Porphyria |
|
Osteoporosis, Osteolysis, Osteopenia |
ORPHA:79277 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia |
ORPHA:664 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
High palate, Anteriorly placed anus, Submucous cleft hard palate, High, narrow palate, Long philt... |
OMIM:612863 |
Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Glucose intolerance, Abnormality of the adrenal glands, Absence of secondary se... |
ORPHA:785 |
Stüve-Wiedemann Syndrome |
|
Camptodactyly of finger, Abnormal cortical bone morphology, Osteoporosis, Knee flexion contractur... |
ORPHA:3206 |
Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate |
OMIM:243440 |
Gm1-Gangliosidosis, Type Ii |
|
Thin bony cortex, Joint stiffness |
OMIM:230600 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Mitral regurgitation, First degree atrioventricular block, Aortic regurgitation, Tricuspid regurg... |
OMIM:620066 |
Limb-Mammary Syndrome |
|
Oligodactyly, Bifid uvula, Cleft lip, Cleft hard palate, Syndactyly, Cleft palate, 3-4 finger cut... |
ORPHA:69085 |
Ear-Patella-Short Stature Syndrome |
|
Craniosynostosis, Camptodactyly of finger, Patellar aplasia, Bifid uvula, Submucous cleft hard pa... |
ORPHA:2554 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Bifid uvula, Cleft hard palate, Submucous cleft hard palate, Dental crowding, Short femur, Narrow... |
OMIM:300990 |
Kearns-Sayre Syndrome |
|
Arrhythmia, Cardiomyopathy, Third degree atrioventricular block |
OMIM:530000 |
Insulin-Resistance Syndrome Type B |
|