Sinoatrial Node Dysfunction And Deafness |
|
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia |
OMIM:614896 |
Cardiac Conduction Defect |
|
Syncope, Arrhythmia |
OMIM:115080 |
Atrial Fibrillation, Familial, 18 |
|
Third degree atrioventricular block, Permanent atrial fibrillation, Palpitations, Bradycardia, Fi... |
OMIM:617280 |
Supravalvular Aortic Stenosis |
|
Supravalvular aortic stenosis, Arrhythmia |
ORPHA:3193 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Ventricular tachycardia, Syncope, Bradycardia |
OMIM:611938 |
Atrial Septal Defect 6 |
|
Bradycardia, Atrial fibrillation |
OMIM:613087 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Sudden cardiac death, Arrhythmia |
OMIM:212500 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy |
OMIM:107970 |
His Bundle Tachycardia |
|
Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia |
ORPHA:3283 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Long Qt Syndrome 5 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... |
OMIM:613695 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia |
OMIM:600919 |
Short Qt Syndrome 2 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... |
OMIM:609621 |
Familial Short Qt Syndrome |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... |
ORPHA:51083 |
Cardiomyopathy, Familial Hypertrophic, 3 |
|
Sudden cardiac death, Hypertrophic cardiomyopathy |
OMIM:115196 |
Long Qt Syndrome 9 |
|
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... |
OMIM:611818 |
Osteochondrosis Of The Metatarsal Bone |
|
Abnormality of the third metatarsal bone, Avascular necrosis, Abnormality of the fifth metatarsal... |
ORPHA:564003 |
Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Complete heart block with narrow QRS complexes, Syncope, Atrioventricular b... |
OMIM:140400 |
Progressive Familial Heart Block, Type Ib |
|
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... |
OMIM:616249 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Syncope, Tachycardia, Ventricular fibrillation |
OMIM:603829 |
Sick Sinus Syndrome 1 |
|
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... |
OMIM:608567 |
Atrial Fibrillation, Familial, 7 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... |
OMIM:612240 |
Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval |
OMIM:618782 |
Lethal Congenital Contracture Syndrome 3 |
|
Respiratory insufficiency, Neonatal death |
OMIM:611369 |
Long Qt Syndrome 8 |
|
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... |
OMIM:618447 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Sudden cardiac death, Ventricular tachycardia, Syncope |
ORPHA:3286 |
Intellectual Developmental Disorder With Cardiac Arrhythmia |
|
Bradycardia, Sick sinus syndrome, Arrhythmia |
OMIM:617173 |
Atrial Fibrillation, Familial, 9 |
|
Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f... |
OMIM:613980 |
Osteogenesis Imperfecta, Type Viii |
|
Wide anterior fontanel, Recurrent fractures, Femoral retroversion, Short metacarpal, Radial bowin... |
OMIM:610915 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... |
OMIM:619464 |
Mazabraud Syndrome |
|
Fibrous dysplasia of the bones, Recurrent fractures, Bone pain |
ORPHA:57782 |
Atrial Fibrillation, Familial, 15 |
|
Sudden cardiac death, Atrial flutter, Supraventricular tachycardia, Atrial fibrillation |
OMIM:615770 |
Atrial Fibrillation, Familial, 4 |
|
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Atrial fibrillation, ... |
OMIM:611493 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Eiken Syndrome |
|
Short phalanx of finger, Thin bony cortex, Short toe, Metaphyseal irregularity, Abnormal bone oss... |
ORPHA:79106 |
Muscular Hypertonia, Lethal |
|
Pneumonia, Respiratory distress, Death in infancy |
OMIM:254120 |
Brugada Syndrome |
|
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... |
ORPHA:130 |
Melorheostosis With Osteopoikilosis |
|
Hypertension, Abnormal cortical bone morphology, Osteopoikilosis, Complete duplication of the dis... |
ORPHA:1879 |
Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy |
OMIM:192605 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... |
OMIM:602086 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... |
OMIM:614021 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Pulmonic stenosis, Ventricular escape rhythm, Mitral regurgitation, Atrial flutter, Bradycardia, ... |
OMIM:616201 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy |
OMIM:609909 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Congenital knee dislocation, Increased susceptibility to fractures, Delayed closure of the anteri... |
OMIM:130060 |
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay |
|
Broad-based gait, Osteopenia, Inability to walk, Recurrent fractures |
OMIM:619884 |
Gnathodiaphyseal Dysplasia |
|
Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis, Osteopenia, Bowing... |
ORPHA:53697 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Foot acroosteolysis, Abnormality of the knee, Tapered finger, Abnormality of the ankle, Abnormal ... |
ORPHA:970 |
Osteogenesis Imperfecta, Type Xxii |
|
Abnormal circulating calcium concentration, Thin bony cortex, Recurrent fractures, Pseudoarthrosi... |
OMIM:619795 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Premature ventricular contraction, Ventricular tac... |
OMIM:614916 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Ventricular arrhythmia, Dilated cardio... |
OMIM:115200 |
Brugada Syndrome 1 |
|
Sudden cardiac death, Right bundle branch block, Cardiac arrest, Syncope, Supraventricular tachyc... |
OMIM:601144 |
Short Qt Syndrome 3 |
|
Shortened QT interval, Palpitations, Tachycardia |
OMIM:609622 |
Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod... |
ORPHA:168796 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... |
OMIM:600858 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst... |
OMIM:604772 |
Long Qt Syndrome 6 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... |
OMIM:613693 |
Atrial Standstill |
|
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... |
ORPHA:1344 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Sudden cardiac death, Reduced left ventricular endsystolic diameter, Hypertrophic cardiomyopathy,... |
OMIM:612124 |
Sclerosteosis |
|
Finger syndactyly, 2-3 finger syndactyly, Increased bone mineral density, Curved distal phalanges... |
ORPHA:3152 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... |
OMIM:613485 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... |
OMIM:604400 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Upper limb undergrowth, Short foot, Short stature, Abnormal cortical bone morphology, Limitation ... |
ORPHA:166277 |
Hyperostosis Corticalis Generalisata |
|
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Diaphyseal t... |
ORPHA:3416 |
Long Qt Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... |
OMIM:613688 |
Atrial Fibrillation, Familial, 10 |
|
Permanent atrial fibrillation, Tricuspid regurgitation, Atrial flutter, Bradycardia, Paroxysmal a... |
OMIM:614022 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnormal pelvic girdle bone... |
ORPHA:1802 |
Grant Syndrome |
|
Joint dislocation, Short stature, Abnormal cortical bone morphology, Abnormality of the glenoid f... |
ORPHA:2097 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitat... |
OMIM:610476 |
Osteoporosis-Pseudoglioma Syndrome |
|
Crumpled long bones, Isosexual precocious puberty, Increased susceptibility to fractures, Short s... |
ORPHA:2788 |
Monosomy 5P |
|
Finger syndactyly, Small hand, Recurrent fractures, Short stature, Joint hyperflexibility, Abnorm... |
ORPHA:281 |
Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... |
OMIM:608569 |
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Bundle branch block, Arrhythmia |
ORPHA:1479 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... |
ORPHA:2790 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Thin bony cortex, Sparse bone trabeculae, Hypophosphatemic rickets, Difficulty walking, Fibular b... |
OMIM:241530 |
Cardiomyopathy, Dilated, 1G |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... |
OMIM:604145 |
Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... |
ORPHA:45453 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradyca... |
OMIM:617222 |
Brugada Syndrome 9 |
|
Presyncope, Palpitations, Prolonged QT interval, ST segment elevation |
OMIM:616399 |
Wolff-Parkinson-White Syndrome |
|
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... |
OMIM:194200 |
Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Aortic regurgitation, Atrial f... |
OMIM:163800 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Thin bony cortex, Metaphyseal irregularity, Recurrent fractures, Bulging epiphyses, Hypophosphate... |
OMIM:600081 |
Paroxysmal Extreme Pain Disorder |
|
Bradycardia, Tachycardia |
OMIM:167400 |
Atrial Fibrillation, Familial, 11 |
|
Prolonged QRS complex, Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged... |
OMIM:614049 |
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Sudden cardiac death, Torsade de pointes, Polymorphic and polytopic ventricular extrasystoles, Le... |
OMIM:115000 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Sparse bone trabeculae, Secondary hyperparathyroidism, Difficulty walking, Post... |
ORPHA:289157 |
Short Qt Syndrome 1 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Palpitations, Shortened QT interval, Paroxysmal at... |
OMIM:609620 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Thin bony cortex, Generalized bone demineralization, Genu valgum, Knee pain, Metaphyseal irregula... |
OMIM:600785 |
Atrial Standstill 1 |
|
Atrial standstill, Premature atrial contractions, Atrial cardiomyopathy, Ventricular escape rhyth... |
OMIM:108770 |
Brugada Syndrome 8 |
|
Ventricular tachycardia, Right bundle branch block, ST segment elevation |
OMIM:613123 |
Butyrylcholinesterase Deficiency |
|
Apnea |
OMIM:617936 |
Long Qt Syndrome 1 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... |
OMIM:192500 |
Dysplastic Cortical Hyperostosis |
|
Short stature, Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly, A... |
ORPHA:2204 |
Pyle Disease |
|
Thin bony cortex, Genu valgum, Limited elbow extension, Cubitus valgus, Metaphyseal dysplasia, Me... |
OMIM:265900 |
Brugada Syndrome 6 |
|
Cardiac arrest, Ventricular fibrillation, ST segment elevation |
OMIM:613119 |
Atrial Fibrillation, Familial, 3 |
|
Sudden cardiac death, Permanent atrial fibrillation, Syncope, Prolonged QTc interval, Atrial fibr... |
OMIM:607554 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Sparse bone trabeculae, Secondary hyperparathyroidism, Difficulty walking, Fibu... |
OMIM:264700 |
Spastic Paraplegia-Paget Disease Of Bone Syndrome |
|
Recurrent fractures, Spastic gait, Gait disturbance, Increased spinal bone density, Bone pain |
ORPHA:329475 |
Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Sudden cardiac death, Premature ventricular contraction, Ventricular fibrillation |
OMIM:612956 |
Long Qt Syndrome 12 |
|
Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation |
OMIM:612955 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... |
OMIM:615441 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy |
OMIM:604401 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Coarse metaphyseal trabecularization, ... |
ORPHA:2635 |
Cranio-Osteoarthropathy |
|
Abnormality of the knee, Arthritis, Clubbing of toes, Abnormal cortical bone morphology, Abnormal... |
ORPHA:1525 |
Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Sparse bone trabeculae, Secondary hyperparathyroidism, Difficulty walking, Fibu... |
OMIM:277440 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Camptodactyly of finger, Paresthesia, Short stature, Ataxia, Intention tremor, Dysmetria, Hypogly... |
ORPHA:48431 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... |
OMIM:601154 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Increased susceptibility to fractures, Anemia, Metaphyseal cupping... |
OMIM:241500 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Genu varum, Genu valgum, Joint dislocation, Recurrent fractures, Short stature, Osteomalacia, Hyp... |
ORPHA:93160 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Recurrent fractures, Short stature, Absence of secondary sex characteristics, Increased circulati... |
ORPHA:2410 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Increased susceptibility to fractures, Abnormal long bone morphology, Urinary bladder sphincter d... |
ORPHA:52430 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval |
OMIM:220400 |
Laryngomalacia |
|
Congenital laryngeal stridor, Respiratory distress |
OMIM:150280 |
Familial Expansile Osteolysis |
|
Thin bony cortex, Hydroxyprolinuria, Osteolysis, Pathologic fracture, Bowing of the long bones, B... |
OMIM:174810 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Pathologic fracture, Gait disturbance, Osteopenia, Bone cyst |
OMIM:618193 |
Sick Sinus Syndrome 3, Susceptibility To |
|
Sick sinus syndrome |
OMIM:614090 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Syncope, Prolo... |
ORPHA:101016 |
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Increased susceptibility to fractures, Epiphyseal streaking, Delayed closure of the anterior font... |
OMIM:604922 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... |
OMIM:611528 |
Short Qt Syndrome 7 |
|
Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation |
OMIM:620231 |
Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Dilat... |
OMIM:601494 |
Cardiomyopathy, Dilated, 1Z |
|
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy |
OMIM:611879 |
Gorham-Stout Disease |
|
Abnormal bone ossification, Osteomyelitis, Abnormal finger morphology, Torticollis, Osteolysis in... |
ORPHA:73 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Short stature, Abnormality of the elbow, Slender long bone, Abnormal cortica... |
ORPHA:1486 |
Osteogenesis Imperfecta, Type V |
|
Recurrent fractures, Hyperextensibility of the finger joints, Anterior radial head dislocation, S... |
OMIM:610967 |
Brugada Syndrome 3 |
|
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... |
OMIM:611875 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Thin bony cortex, Sparse bone trabeculae, Hypophosphatemic rickets, Low-molecular-weight proteinu... |
OMIM:300554 |
Albers-Schönberg Osteopetrosis |
|
Anemia, Avascular necrosis, Osteomyelitis, Recurrent fractures, Genu valgum, Short stature, Joint... |
ORPHA:53 |
Buschke-Ollendorff Syndrome |
|
Flexion contracture, Renal insufficiency, Recurrent fractures, Short stature, Cutaneous finger sy... |
ORPHA:1306 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... |
OMIM:601419 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Bowing of limbs due to multiple fractures, Disproportionate short-limb short stature, Multiple pr... |
OMIM:259410 |
Isolated Congenital Hypoglossia/Aglossia |
|
Dyspnea, Upper airway obstruction, Aspiration pneumonia, Respiratory distress |
ORPHA:141152 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card... |
OMIM:600884 |
Ck Syndrome |
|
Abnormal digit morphology, Abnormal cortical bone morphology, Joint hypermobility |
OMIM:300831 |
Intermediate Osteopetrosis |
|
Increased susceptibility to fractures, Anemia, Osteomyelitis, Recurrent fractures, Erlenmeyer fla... |
ORPHA:210110 |
Long Qt Syndrome 3 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... |
OMIM:603830 |
Laryngotracheal Angioma |
|
Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing |
ORPHA:137935 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr... |
OMIM:607450 |
Melnick-Needles Syndrome |
|
Osteolytic defects of the phalanges of the hand, Respiratory insufficiency, Vesicoureteral reflux... |
ORPHA:2484 |
Long Qt Syndrome 10 |
|
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrioventricular block, Atrial fib... |
OMIM:611819 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Bradycardia, Atrial fibrillation |
OMIM:614302 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Short stature, Hypertrophic cardiomyopathy, Delayed puberty, Hypoglycemia, Osteopenia, Hyperlipid... |
ORPHA:369 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Mitral ... |
OMIM:615373 |
Dent Disease 1 |
|
Thin bony cortex, Aminoaciduria, Hyperphosphaturia, Sparse bone trabeculae, Low-molecular-weight ... |
OMIM:300009 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... |
OMIM:618920 |
Odontochondrodysplasia 1 |
|
Short phalanx of finger, Flared iliac wing, Nephronophthisis, Genu recurvatum, Polycystic kidney ... |
OMIM:184260 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Joint hyperflexibility, Brachydactyly, Short distal phalanx of finger, Osteoporosis, Wormian bones |
ORPHA:2787 |
Respiratory Distress Syndrome In Premature Infants |
|
Neonatal respiratory distress, Dyspnea, Respiratory distress, Tachypnea |
OMIM:267450 |
Long Qt Syndrome 14 |
|
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... |
OMIM:616247 |
Osteogenesis Imperfecta, Type Iii |
|
Pulmonary arterial hypertension, Protrusio acetabuli, Bowing of limbs due to multiple fractures, ... |
OMIM:259420 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi... |
ORPHA:85188 |
Bruck Syndrome 1 |
|
Knee flexion contracture, Increased susceptibility to fractures, Protrusio acetabuli, Hip contrac... |
OMIM:259450 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... |
OMIM:612347 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating beta-C-terminal telopeptide concentration, Osteomalacia, Short stature, Hyp... |
ORPHA:157215 |
Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Respiratory distress, Stillbirth, Death in adolescence, Neonatal... |
OMIM:619751 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Glycerol Kinase Deficiency |
|
Short stature, Adrenal insufficiency, Adrenocortical hypoplasia, Pathologic fracture, Increased u... |
OMIM:307030 |
Weismann-Netter Syndrome |
|
Anemia, Abnormality of the humerus, Tibial bowing, Abnormal cortical bone morphology, Femoral bow... |
ORPHA:3344 |
Atrial Fibrillation, Familial, 12 |
|
Paroxysmal atrial fibrillation |
OMIM:614050 |
Cardiomyopathy, Dilated, 2F |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:619747 |
Bronchopulmonary Dysplasia |
|
Tracheobronchomalacia, Hyperoxemia, Abnormal respiratory system physiology, Respiratory distress,... |
ORPHA:70589 |
Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Recurrent fractures, Hypogonadism, Short stature, Toe syndactyly, Clinod... |
ORPHA:3409 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Gnathodiaphyseal Dysplasia |
|
Increased susceptibility to fractures, Osteomyelitis, Diaphyseal cortical sclerosis, Osteopenia, ... |
OMIM:166260 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
2-3 toe syndactyly, Recurrent fractures, Delayed skeletal maturation, Joint hyperflexibility, Ost... |
ORPHA:2324 |
Bruck Syndrome 2 |
|
Knee flexion contracture, Increased susceptibility to fractures, Flexion contracture, Short statu... |
OMIM:609220 |
Atrial Fibrillation, Familial, 1 |
|
Atrial fibrillation |
OMIM:608583 |
Atrial Fibrillation, Familial, 5 |
|
Atrial fibrillation |
OMIM:611494 |
Atrial Fibrillation, Familial, 2 |
|
Atrial fibrillation |
OMIM:608988 |
Severe Acute Respiratory Syndrome |
|
Hypoxemia, Respiratory distress, Dyspnea, Cough, Respiratory failure requiring assisted ventilati... |
ORPHA:140896 |
Lethal Recessive Chondrodysplasia |
|
Short long bone, Flared elbow metaphyses, Accelerated skeletal maturation, Respiratory distress, ... |
ORPHA:1423 |
Immunodeficiency 95 |
|
Respiratory failure, Respiratory distress, Recurrent viral pneumonia |
OMIM:619773 |
Caffey Disease |
|
Respiratory insufficiency, Increased circulating antibody level, Cortical thickening of long bone... |
ORPHA:1310 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Increased susceptibility to fractures, Premature thelarche, Sclerotic cranial sutures, Arthropath... |
ORPHA:371428 |
Atrial Standstill 2 |
|
Atrial standstill, Atrial cardiomyopathy, Palpitations, Atrial arrhythmia, Absent P wave, Bradyca... |
OMIM:615745 |
Brugada Syndrome 7 |
|
Prolonged P wave, Permanent atrial fibrillation, ST segment elevation, Atrial flutter, Paroxysmal... |
OMIM:613120 |
Juvenile Paget Disease |
|
Hyperuricemia, Recurrent fractures, Short stature, Coarse metaphyseal trabecularization, Hyperten... |
ORPHA:2801 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia |
ORPHA:871 |
Hypophosphatasia, Adult |
|
Increased susceptibility to fractures, Recurrent fractures, Osteomalacia, Arthropathy, Rickets, C... |
OMIM:146300 |
Osteogenesis Imperfecta, Type Xiv |
|
Increased susceptibility to fractures, Recurrent fractures, Short stature, Femoral bowing, Osteop... |
OMIM:615066 |
Angioosteohypotrophic Syndrome |
|
Thin bony cortex, Upper limb undergrowth, Paresthesia, Abnormal trabecular bone morphology, Hypop... |
ORPHA:75508 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Asymmetric septal hype... |
OMIM:613838 |
Pachydermoperiostosis |
|
Genu varum, Splenomegaly, Anemia, Osteomyelitis, Avascular necrosis, Small hand, Arthritis, Abnor... |
ORPHA:2796 |
Autosomal Recessive Primary Microcephaly |
|
Vesicoureteral reflux, Short stature, Abnormal cortical bone morphology, Unilateral renal agenesi... |
ORPHA:2512 |
Post-Traumatic Pituitary Deficiency |
|
Hypotension, Decreased response to growth hormone stimulation test, Osteoporosis of vertebrae, De... |
ORPHA:95619 |
Solitary Bone Cyst |
|
Proximal femoral metaphyseal abnormality, Abnormality of the medullary cavity of the long bones, ... |
ORPHA:83468 |
Hypophosphatasia |
|
Respiratory insufficiency, Anemia, Recurrent fractures, Short stature, Emphysema, Large fontanell... |
ORPHA:436 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Recurrent fractures, Cutaneous abscess, Joint hypermobility, Increased circulating IgE level, Rec... |
OMIM:147060 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Respiratory insufficiency, Pulmonary insufficiency, Recurrent fractures, Con... |
OMIM:166210 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Sudden cardiac death, Impaired glucose tolerance, Type II diabetes mellitus, Glucose intolerance,... |
OMIM:610947 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Hyperpituitarism, Osteolysis, Difficulty walking, Fibrous dysplasia of the bone... |
ORPHA:249 |
Bruck Syndrome |
|
Respiratory insufficiency, Recurrent fractures, Short stature, Pterygium, Arthrogryposis multiple... |
ORPHA:2771 |
Osteogenesis Imperfecta, Type Xix |
|
Recurrent fractures, Rhizomelia, Joint hypermobility, Bowing of the legs, Severe short stature, M... |
OMIM:301014 |
Osteogenesis Imperfecta, Type Ix |
|
Bowing of limbs due to multiple fractures, Recurrent fractures, Short lower limbs, Multiple prena... |
OMIM:259440 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... |
OMIM:610193 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... |
OMIM:613251 |
Atrial Tachyarrhythmia With Short Pr Interval |
|
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Paroxysmal a... |
OMIM:108950 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Bradycardia |
ORPHA:2898 |
Osteosarcoma |
|
Abnormal femoral metaphysis morphology, Osteolysis, Abnormal tibial metaphysis morphology, Joint ... |
ORPHA:668 |
Osteogenesis Imperfecta, Type Xii |
|
Recurrent fractures, Hyperextensibility of the finger joints, Short stature, Bowing of the legs, ... |
OMIM:613849 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Thin bony cortex, Wrist flexion contracture, Delayed closure of the anterior fontanelle, Metacarp... |
OMIM:259600 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia |
OMIM:192600 |
Pycnodysostosis |
|
Delayed cranial suture closure, Increased bone mineral density, Hepatosplenomegaly, Hypoplastic i... |
ORPHA:763 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypogonadism, Short stature, Clinodactyly, Clinodactyly of the 5th finger, Insulin resistance, Se... |
ORPHA:73272 |
Short Stature, Dauber-Argente Type |
|
Increased insulin like growth factor binding protein acid labile subunit concentration, Short sta... |
OMIM:619489 |
Propionic Acidemia |
|
Cerebellar hemorrhage, Anemia, Hyperglycinemia, Short stature, Pancytopenia, Tachypnea, Apnea, Hy... |
OMIM:606054 |
Sinus Node Disease And Myopia |
|
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin |
OMIM:182190 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Bradycardia, Sick sinus syndrome |
OMIM:617182 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Thin bony cortex, Broad femoral neck, Coxa valga, Wide anterior fontanel, Short tubular bones of ... |
ORPHA:85184 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Increased susceptibility to fractures, Radioulnar dislocation, Hypoplastic ilia, Short stature, A... |
ORPHA:93359 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Variant Abeta2M Amyloidosis |
|
Knee pain, Reduced left ventricular ejection fraction, Wrist pain, Pathologic fracture, Arthralgi... |
ORPHA:314652 |
Dent Disease |
|
Thin bony cortex, Aminoaciduria, Non-acidotic proximal tubulopathy, Hyperphosphaturia, Sparse bon... |
ORPHA:1652 |
Mycetoma |
|
Abnormality of the knee, Osteomyelitis, Abnormal forearm bone morphology, Painless fractures due ... |
ORPHA:2583 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
Classic Galactosemia |
|
Gait imbalance, Postural tremor, Abnormal erythrocyte enzyme level, Gait disturbance, Ataxia, Del... |
ORPHA:79239 |
Congenital Heart Defects, Multiple Types, 3 |
|
Right bundle branch block, Atrioventricular dissociation, Atrioventricular block, Tachycardia, At... |
OMIM:614954 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Short 4th metacarpal, Short 5th metacarpal, Rhizomelia, Femoral bowing, Broad t... |
OMIM:619638 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Increased susceptibility to fractures, Anemia, Gastrointestinal telangiectasia, Genu valgum, Meta... |
OMIM:612199 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Bronchiectasis, Hypoxemia, Reduced forced vital capacity, Reduced FEV1/FVC ratio, Decreased force... |
ORPHA:1303 |
Brugada Syndrome 2 |
|
Sudden cardiac death, Right bundle branch block, Syncope, Prolonged PR interval, First degree atr... |
OMIM:611777 |
Gaucher Disease Type 1 |
|
Increased bone mineral density, Osteolysis, Delayed skeletal maturation, Thrombocytopenia, Spleno... |
ORPHA:77259 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Delayed cranial suture closure, Increased susceptibility to fractures, Wide anterior fontanel, In... |
ORPHA:357058 |
Beta-Thalassemia Intermedia |
|
Hypothyroidism, Abnormality of iron homeostasis, Adrenal insufficiency, Hepatosplenomegaly, Hypop... |
ORPHA:231222 |
Chronic Pneumonitis Of Infancy |
|
Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress, Cough, H... |
ORPHA:91359 |
Stüve-Wiedemann Syndrome |
|
Camptodactyly of finger, Hypothyroidism, Flexion contracture, Elbow flexion contracture, Thickene... |
ORPHA:3206 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Hip osteoarthritis, Generalized osteosclerosis, Abnormal pelvic girdle bone ... |
OMIM:166600 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Short stature, Craniofacial hyperostosis, Elevated circulating parathyroid hormone level, Diaphys... |
OMIM:122860 |
Proteus Syndrome |
|
Thin bony cortex, Facial hyperostosis, Calvarial hyperostosis, Splenomegaly, Mandibular hyperostosis |
OMIM:176920 |
Majeed Syndrome |
|
Increased susceptibility to fractures, Metaphyseal irregularity, Flexion contracture, Osteomyelit... |
ORPHA:77297 |
Maffucci Syndrome |
|
Recurrent fractures, Neoplasm of the parathyroid gland, Parathyroid adenoma, Neoplasm of the adre... |
ORPHA:163634 |
Tenorio Syndrome |
|
Delayed cranial suture closure, Raynaud phenomenon, Syncope, Joint laxity, Gait disturbance, Apne... |
OMIM:616260 |
Marshall-Smith Syndrome |
|
Increased susceptibility to fractures, Bowing of the long bones, Slender long bone, Accelerated s... |
ORPHA:561 |
Cardiomyopathy, Dilated, 2G |
|
Right bundle branch block, Cerebral hemorrhage, Severely reduced left ventricular ejection fracti... |
OMIM:619897 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Patent ductus arteriosus, Delayed closure of the anterior fontanelle, Wide anterior fontanel, Sho... |
OMIM:614886 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Knee flexion contracture, Metaphyseal cupping, Hip contracture, Short long bone, Hypophosphatemia... |
OMIM:156400 |
Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria, Recurrent fractures, Short stature, Abnormality of the thyroid gland, Abnormal cal... |
ORPHA:417 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Recurrent fractures, Wormian bones |
ORPHA:2773 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... |
OMIM:254210 |
Kniest Dysplasia |
|
Genu varum, Dumbbell-shaped long bone, Hip contracture, Splayed epiphyses, Coxa vara, Rhizomelia,... |
OMIM:156550 |
Infantile Systemic Hyalinosis |
|
Camptodactyly of finger, Increased susceptibility to fractures, Recurrent fractures, Osteomalacia... |
ORPHA:2176 |
Oncogenic Osteomalacia |
|
Renal phosphate wasting, Increased susceptibility to fractures, Abnormality of the tarsal bones, ... |
ORPHA:352540 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Urinary incontinence, Pathologic fracture, Gait disturbance, Bone cyst |
OMIM:221770 |
Osteogenesis Imperfecta, Type Xxi |
|
Coxa valga, Recurrent fractures, Coxa vara, Joint hypermobility, Bowing of the legs, Disproportio... |
OMIM:619131 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Delayed cranial suture closure, Hypocalcemic tetany, Small hand, Calvarial osteosclerosis, Stenos... |
ORPHA:93324 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Reduced circulating growth hormone concentration, Severe short stature, Decreased serum insulin-l... |
OMIM:262400 |
Osteogenesis Imperfecta, Type Xiii |
|
Wide pubic symphysis, Recurrent fractures, Wide distal femoral metaphysis, Angulated humerus, Sho... |
OMIM:614856 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Recurrent fractures, Hypoplasia of penis, Disproportionate short-limb short stature, Joint hyperf... |
ORPHA:2772 |
Cardiomyopathy, Dilated, 1Nn |
|
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... |
OMIM:615916 |
Osteogenesis Imperfecta, Type Iv |
|
Increased susceptibility to fractures, Bowing of limbs due to multiple fractures, Otosclerosis, R... |
OMIM:166220 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Short stature, Increased circulat... |
ORPHA:171706 |
Florid Cemento-Osseous Dysplasia |
|
Avascular necrosis, Abnormal trabecular bone morphology, Mandibular osteomyelitis, Abnormal bone ... |
ORPHA:83451 |
Short Stature Due To Ghsr Deficiency |
|
Short stature, Delayed puberty, Decreased serum insulin-like growth factor 1, Delayed skeletal ma... |
ORPHA:314811 |
Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Narrow pelvis bone, Respiratory distress, Abnormal... |
ORPHA:66637 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Recurrent fractures, Short stature, Bruising susceptibility, Joint hypermobility, Recurrent joint... |
OMIM:619115 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Fractured radius, Short femur, Adducted thumb, Hypertrophic cardiomyopathy, ... |
OMIM:616897 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Resp... |
ORPHA:264675 |
Familial Nasal Acilia |
|
Bronchiectasis, Respiratory distress, Chronic sinusitis, Chronic rhinitis, Dyspnea |
ORPHA:922 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... |
OMIM:608758 |
Achondrogenesis Type 1A |
|
Abnormal enchondral ossification, Recurrent fractures, Severe short stature, Short palm, Short foot |
ORPHA:93299 |
Dysosteosclerosis |
|
Short diaphyses, Increased susceptibility to fractures, Short sternum, Broad femoral neck, Delaye... |
OMIM:224300 |
Short Stature Due To Partial Ghr Deficiency |
|
Short stature, Delayed puberty, Decreased serum insulin-like growth factor 1, Delayed skeletal ma... |
ORPHA:314802 |
Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Increased bone mineral density, Cortical thickening of long bone diaphyses, ... |
OMIM:166740 |
Osteogenesis Imperfecta, Type Xvi |
|
Recurrent fractures, Rhizomelia, Short long bone, Short stature, Bruising susceptibility, Joint h... |
OMIM:616229 |
Menkes Disease |
|
Short stature, Decreased circulating ceruloplasmin concentration, Joint laxity, Intracranial hemo... |
OMIM:309400 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Respiratory insufficiency, Increased susceptibility to fractures, Advanced ossification of carpal... |
OMIM:615349 |
Recurrent Respiratory Papillomatosis |
|
Respiratory insufficiency, Respiratory distress, Recurrent pneumonia, Upper airway obstruction, D... |
ORPHA:60032 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Abnormality of renal excretion, Rickets of the lower limbs, Abnormal trabecu... |
ORPHA:289176 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Corner fracture of metaphysis, Limb pain, Disproportionate short-trunk short stature, Reduced bon... |
ORPHA:93315 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Cardiac arrest, Syncope, Epsilon wave, Pr... |
OMIM:609040 |
Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Ventricular tachycardia,... |
OMIM:615184 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Respiratory distress, Large poste... |
ORPHA:226313 |
Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Recurrent fractures, Petechiae, Increased bone mineral density, Reticulocytosis, Growth d... |
OMIM:611490 |
Tako-Tsubo Cardiomyopathy |
|
Hypotension, T-wave inversion, Ventricular arrhythmia, Cardiogenic shock, Mildly reduced left ven... |
ORPHA:66529 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Fanconi Renotubular Syndrome 2 |
|
Renal phosphate wasting, Proximal tubulopathy, Recurrent fractures, Short stature, Osteomalacia, ... |
OMIM:613388 |
Paget Disease Of Bone 2, Early-Onset |
|
Increased susceptibility to fractures, Bowing of the long bones, Bone pain, Hydroxyprolinuria, Sh... |
OMIM:602080 |
Aggressive Systemic Mastocytosis |
|
Hypotension, Anemia, Neutropenia, Leukemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Oste... |
ORPHA:98850 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Short stature, Hypogonadism, Ataxia, Hypoglycemia, Dystonia, Postnatal gr... |
OMIM:616113 |
Nestor-Guillermo Progeria Syndrome |
|
Delayed closure of the anterior fontanelle, Flexion contracture, Sinus tachycardia, Osteolysis, R... |
OMIM:614008 |
Osteogenesis Imperfecta, Type Xviii |
|
Thin bony cortex, Recurrent fractures, Joint laxity, Joint hypermobility, Femoral bowing, General... |
OMIM:617952 |
Osteopetrosis, Autosomal Recessive 2 |
|
Anemia, Genu valgum, Osteomyelitis, Recurrent fractures, Pancytopenia, Decreased osteoclast count... |
OMIM:259710 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Abnormal mucociliary clearance, Respiratory distress, Bronchiectasis |
OMIM:619466 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Increased susceptibility to fractures, Hyperaldosteronism, Increased circulating cortisol level, ... |
ORPHA:189427 |
Cole-Carpenter Syndrome 2 |
|
Recurrent fractures, Short stature, Coronal craniosynostosis, Wormian bones, Wide cranial sutures... |
OMIM:616294 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Abnormal bone ossification, Wide anterior fontanel, Coxa valga, Abnormality of cranial sutures, A... |
ORPHA:163649 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Apneic episodes precipitated by illness, fatigue, stress, Respiratory distress, Sudden episodic a... |
OMIM:605809 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Decreased response to growth hormone stimulation test, Hypercalciuria, Epiphyseal dysplasia, Hypo... |
OMIM:614732 |
Brugada Syndrome 5 |
|
Bundle branch block, Ventricular fibrillation, ST segment elevation |
OMIM:612838 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Increased susceptibility to fractures, Increased circulating cortisol level, Type II diabetes mel... |
ORPHA:189439 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Flexion contracture, Respiratory distress, Congenital hip dislocation, Multiple prenatal fracture... |
OMIM:271225 |
Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Osteomyelitis, Coxa vara, Calvarial osteosclerosis, Increased bone mineral density, Hypoc... |
OMIM:259700 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Neoplasm of the thyroid gland, Congestive heart failure, Recurrent fractures, Reduced bone minera... |
ORPHA:137608 |
Pleural Mesothelioma |
|
Abnormal respiratory system physiology, Respiratory distress, Pleural effusion, Dyspnea, Cough |
ORPHA:50251 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Increased susceptibility to fractures, Hypophosphatemia, Hyperphosphatur... |
OMIM:612287 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypothyroidism, Short stature, Impaired growth-hormone response to insulin stimulation test, Adre... |
OMIM:262700 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory failure, Cough, Respiratory distress, Tachypnea |
OMIM:263000 |
Osteogenesis Imperfecta, Type I |
|
Increased susceptibility to fractures, Otosclerosis, Recurrent fractures, Bruising susceptibility... |
OMIM:166200 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616276 |
Cleidocranial Dysplasia |
|
Tapered finger, Hypoplastic inferior ilia, Spina bifida occulta, Large fontanelles, Genu valgum, ... |
ORPHA:1452 |
Gaucher Disease Type 3 |
|
Pulmonary arterial hypertension, Increased susceptibility to fractures, Anemia, Avascular necrosi... |
ORPHA:77261 |
Cutis Laxa, Autosomal Dominant 3 |
|
Delayed cranial suture closure, Hip dislocation, Unilateral renal agenesis, Aortic regurgitation,... |
OMIM:616603 |
Cryptogenic Organizing Pneumonia |
|
Pneumothorax, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory defect, Dyspnea,... |
ORPHA:1302 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Renal phosphate wasting, Increased susceptibility to fractures, Hypophosphatemia, Hyperphosphatur... |
OMIM:612286 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Delayed closure of the anterior fontanelle, Panhypogammaglobulinemia, Short stature, Epiphyseal s... |
ORPHA:251009 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypothyroidism, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Nephrolithiasis, Chronic neut... |
ORPHA:79259 |
Osteogenesis Imperfecta, Type Xi |
|
Increased susceptibility to fractures, Protrusio acetabuli, Coxa vara, Short stature, Joint laxit... |
OMIM:610968 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Paroxysma... |
ORPHA:45452 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Right bundle branch block, Cardiac arrest, Syncope, Angina pectoris, Congestive heart failure, Hy... |
OMIM:612098 |
Caffey Disease |
|
Joint hypermobility, Bowing of the legs, Cortical irregularity, Subperiosteal bone formation, Cal... |
OMIM:114000 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Bradycardia, Dilated cardiomyopathy |
OMIM:618815 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinem... |
ORPHA:411593 |
Osteopetrosis, Autosomal Dominant 3 |
|
Anemia, Recurrent fractures, Hyperparathyroidism, Osteopenia, Splenomegaly |
OMIM:618107 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Myopathy And Diabetes Mellitus |
|
Tip-toe gait, Inability to walk, Achilles tendon contracture, Type I diabetes mellitus, Respirato... |
ORPHA:2596 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... |
OMIM:608751 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Flexion contracture, Tapered finger, Hip dislocation, Hypoglycemia, Pain insensitivity, Delayed e... |
OMIM:616007 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Increased susceptibility to fractures, Abnormality of the knee, Generalized joint laxity, Small h... |
ORPHA:251028 |
Geroderma Osteodysplastica |
|
Abnormal bone ossification, Recurrent fractures, Hip dislocation, Severe short stature, Joint hyp... |
ORPHA:2078 |
Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Short phalanx of finger, Respiratory insufficiency, Metaphyseal rarefaction, Elbow f... |
OMIM:601559 |
Mastocytosis |
|
Hypotension, Respiratory insufficiency, Recurrent fractures, Asthma, Telangiectasia of the skin, ... |
ORPHA:98292 |
Geroderma Osteodysplasticum |
|
Increased susceptibility to fractures, Recurrent fractures, Hyperextensibility of the finger join... |
OMIM:231070 |
Aminoacylase 1 Deficiency |
|
Bradycardia |
OMIM:609924 |
Prader-Willi Syndrome |
|
Central hypothyroidism, Precocious puberty, Small pituitary gland, Increased susceptibility to fr... |
ORPHA:739 |
Osteogenesis Imperfecta, Type X |
|
Thin bony cortex, Genu valgum, Generalized joint laxity, Rhizomelia, Short stature, Tibial bowing... |
OMIM:613848 |
Osteogenesis Imperfecta |
|
Somatic sensory dysfunction, Flexion contracture, Dislocated radial head, Large fontanelles, Abno... |
ORPHA:666 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metatarsal, Genu valgum, Upper limb undergrowth, Abnormal joint morphology, Abnormal carpal... |
ORPHA:93351 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pneumothorax, Bronchiectasis, Respiratory distress, Chronic pulmonary obstruction, Pleural effusi... |
ORPHA:411703 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Bradycardia |
OMIM:616277 |
Glycogen Storage Disease Ia |
|
Hyperuricemia, Short stature, Enlarged kidney, Abnormal bleeding, Hypertension, Gout, Delayed pub... |
OMIM:232200 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Recurrent fractures, Short stature, Absence of secondary sex characteristics, Anterior hypopituit... |
ORPHA:2235 |
Oculodentodigital Dysplasia |
|
Camptodactyly of finger, Toe syndactyly, Short hallux, Hypoglycemia, Madelung deformity, Abnormal... |
ORPHA:2710 |
Idiopathic Juvenile Osteoporosis |
|
Gait disturbance, Bone pain, Osteoporosis, Recurrent fractures |
ORPHA:85193 |
Gaucher Disease |
|
Respiratory insufficiency, Increased bone mineral density, Osteolysis, Delayed skeletal maturatio... |
ORPHA:355 |
Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Cardiac arrest, Bradycardia, Tachycardia |
ORPHA:70587 |
Multiple Enchondromatosis, Maffucci Type |
|
Pathologic fracture |
OMIM:614569 |
Osteogenesis Imperfecta, Type Vii |
|
Crumpled long bones, Protrusio acetabuli, Delayed cranial suture closure, Wide anterior fontanel,... |
OMIM:610682 |
Familial Osteodysplasia, Anderson Type |
|
Increased susceptibility to fractures, Hyperuricemia, Aplastic clavicle, Recurrent fractures, Apl... |
ORPHA:2769 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... |
OMIM:112250 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Elbow flexion contracture, Bruising susceptibility, Contracture of the proximal interphalangeal j... |
OMIM:612394 |
Gaucher Disease Type 2 |
|
Abnormal pattern of respiration, Cough, Respiratory distress |
ORPHA:77260 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory failure, Dyspnea, Respiratory distress |
ORPHA:1832 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Delayed cranial suture closure, Increased bone mineral density, Delayed skeletal maturation, Larg... |
ORPHA:2658 |
Dysosteosclerosis |
|
Recurrent fractures, Short stature, Increased bone mineral density, Coarse metaphyseal trabecular... |
ORPHA:1782 |
Mucolipidosis Ii Alpha/Beta |
|
Hip subluxation, Coxa valga, Premature anterior fontanel closure, Flared iliac wing, Camptodactyl... |
OMIM:252500 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Recurrent fractures, Femoral bowing, Severe short stature, Osteopenia, Osteoporosis |
OMIM:126550 |
Greig Cephalopolysyndactyly Syndrome |
|
Delayed cranial suture closure, Preaxial hand polydactyly, Joint contracture of the hand, Hypergl... |
OMIM:175700 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Ventricular escape rhythm, Arrhythmia, Prolonged PR interval, Bradycardia, Sick sinus syndrome |
ORPHA:542306 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory insufficiency, Respiratory distress |
ORPHA:238329 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Neuropathic arthropathy, Osteomyelitis, Gait imbalance, Inability to walk, Impaired distal tactil... |
ORPHA:36386 |
Brugada Syndrome 4 |
|
Shortened QT interval, Atrial fibrillation, Syncope |
OMIM:611876 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory insufficiency, Flexion contracture, Multiple joint contractures, Hallux valgus, Patel... |
ORPHA:536471 |
Atrial Septal Defect, Sinus Venosus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Right bundl... |
ORPHA:99105 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Bradycardia, Congestive heart failure |
OMIM:619048 |
Brittle Cornea Syndrome |
|
Increased susceptibility to fractures, Hallux valgus, Pulmonic stenosis, Hip dysplasia, Camptodac... |
ORPHA:90354 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Metaphyseal irregularity, Dumbbell-shaped long bone, Metaphyseal cupping, Hypoplastic pubic bone,... |
OMIM:151210 |
Perching Syndrome |
|
Respiratory distress |
OMIM:617055 |
Hyperparathyroidism, Transient Neonatal |
|
Patent ductus arteriosus, Recurrent fractures, Short long bone, Enlarged kidney, Splenic cyst, Re... |
OMIM:618188 |
Progressive Pseudorheumatoid Dysplasia |
|
Camptodactyly of finger, Genu varum, Coxa vara, Joint contracture of the hand, Enlarged epiphyses... |
OMIM:208230 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Osteomyelitis, Fused cervical vertebrae, Neutrophilia, Respiratory distress, Osteolysis, Periosti... |
OMIM:612852 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Patent ductus arteriosus, Hypothyroidism, Short stature, Hip dislocation, Hypoglycemia, Osteopeni... |
OMIM:618005 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hyperphosphatemia, Hyperuricemia, Recurrent fractures, Short stature, Increased bone mineral dens... |
OMIM:239000 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Knee flexion contracture, Wrist flexion contracture, Flexion contracture, Hip contracture, Elbow ... |
ORPHA:1143 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4 |
|
Apnea, Neonatal death |
OMIM:615228 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hand tremor, Hyperinsulinemic hypoglycemia, ... |
ORPHA:79299 |
Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Abnormal ST segment, Congestive heart failure, Arrhythmia |
ORPHA:1055 |
H Syndrome |
|
Hypertriglyceridemia, Facial telangiectasia, Recurrent fractures, Hypogonadism, Hallux valgus, Sh... |
ORPHA:168569 |
Mccune-Albright Syndrome |
|
Precocious puberty, Hyperphosphaturia, Bone marrow hypocellularity, Fibrous dysplasia of the bone... |
ORPHA:562 |
Cleidocranial Dysplasia 1 |
|
Short middle phalanx of the 2nd finger, Increased bone mineral density, Hip dislocation, Large fo... |
OMIM:119600 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary arterial hypertension, Decreased DLCO, Dyspnea, Cough |
OMIM:234810 |
Rothmund-Thomson Syndrome |
|
Increased susceptibility to fractures, Anemia, Broad ulna, Short stature, Calcinosis, Abnormal tr... |
ORPHA:2909 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Cardiac arrest, Premature ventricular contraction, Ventricular tachycardia, Atrioven... |
OMIM:212138 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hypotension, Increased susceptibility to fractures, Acute myeloid leukemia, Splenomegaly, Increas... |
ORPHA:98849 |
Cole-Carpenter Syndrome 1 |
|
Recurrent fractures, Short stature, Coronal craniosynostosis, Osteopenia, Reduced bone mineral de... |
OMIM:112240 |
Dysplasia Epiphysealis Hemimelica |
|
Genu varum, Genu valgum, Recurrent fractures, Flattened femoral head, Accelerated skeletal matura... |
ORPHA:1822 |
Rothmund-Thomson Syndrome Type 1 |
|
Short phalanx of finger, Hypothyroidism, Abnormal trabecular bone morphology, Metaphyseal striati... |
ORPHA:221008 |
Rothmund-Thomson Syndrome Type 2 |
|
Short phalanx of finger, Abnormal trabecular bone morphology, Metaphyseal striations, Delayed ske... |
ORPHA:221016 |
Gm1-Gangliosidosis, Type Ii |
|
Patent ductus arteriosus, Thin bony cortex, Sea-blue histiocytosis, Coxa valga, Gait disturbance,... |
OMIM:230600 |
Osteopetrosis, Autosomal Recessive 7 |
|
Anemia, Decreased circulating total IgM, Death in infancy, Abnormal trabecular bone morphology, R... |
OMIM:612301 |
Idiopathic Congenital Hypothyroidism |
|
Delayed cranial suture closure, Increased radioactive iodine uptake, Elevated circulating thyroid... |
ORPHA:95717 |
Growth Hormone Insensitivity Syndrome |
|
Diabetes insipidus, Hypogonadism, Short stature, Type II diabetes mellitus, Hypoplasia of penis, ... |
ORPHA:181393 |
Shashi-Pena Syndrome |
|
Patent ductus arteriosus, Short metacarpal, Accelerated skeletal maturation, Unilateral renal age... |
OMIM:617190 |
Hao-Fountain Syndrome |
|
Delayed cranial suture closure, Hallux valgus, Central sleep apnea, Clinodactyly of the 5th finge... |
OMIM:616863 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Delayed cranial suture closure, Flexion contracture, Coxa valga, Acroosteolysis of distal phalang... |
OMIM:248370 |
Van Buchem Disease |
|
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis |
OMIM:239100 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Recurrent fractures, Short stature, Enlarged kidney, Hypertension, Membranoproliferative glomerul... |
ORPHA:251004 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Shoulder dislocation, Tarsal sclerosis, Coxa valga, Inability to walk, Delayed skeletal maturatio... |
ORPHA:404454 |
Greenberg Dysplasia |
|
Short phalanx of finger, Absent or minimally ossified vertebral bodies, Tetraphocomelia, Epiphyse... |
OMIM:215140 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Angina pectoris, Hypertrophic cardiomyopathy, Ventricular tachycardia, Palpitations, Atrial fibri... |
OMIM:613873 |
Hypoglycemia, Leucine-Induced |
|
Ataxia, Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short phalanx of finger, Delayed cranial suture closure, Hyperinsulinemia, Flexion contracture, A... |
OMIM:608612 |
Hemochromatosis Type 2 |
|
Abnormality of iron homeostasis, Abnormality of endocrine pancreas physiology, Hypogonadism, Arth... |
ORPHA:79230 |
Mccune-Albright Syndrome |
|
Increased circulating prolactin concentration, Precocious puberty, Hyperthyroidism, Increased cir... |
OMIM:174800 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Precocious puberty, Recurrent fractures, Abnormal finger morphology, Short stature, Hyperphosphat... |
OMIM:163200 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory insufficiency, Multiple joint contractures, Hallux valgus, Postnatal growth retardati... |
ORPHA:536467 |
Diaphanospondylodysostosis |
|
Respiratory insufficiency, Absent in utero ossification of vertebral bodies, Delayed vertebral os... |
OMIM:608022 |
Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Congestive heart failure, Hyp... |
ORPHA:330001 |
Mehmo Syndrome |
|
Gait ataxia, Decreased response to growth hormone stimulation test, Inability to walk, Birth leng... |
OMIM:300148 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Shoulder dislocation, Spatulate thumbs, Hallux valgus, Elbow flexion contracture, Hip dislocation... |
OMIM:245600 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Impaired urinary acid... |
OMIM:179800 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Thickened cort... |
OMIM:144750 |
Fanconi-Bickel Syndrome |
|
Renal tubular acidosis, Impaired glucose tolerance, Glycosuria, Hypophosphatemia, Hyperphosphatur... |
ORPHA:2088 |
Alg12-Cdg |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Camptodactyly... |
ORPHA:79324 |
Laron Syndrome |
|
Short toe, Abnormality of the elbow, Hypoplasia of penis, Brachydactyly, Severe short stature, De... |
ORPHA:633 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory failure, Exertional dyspnea, Death in infancy, Hypoxemia, Respiratory distress, Apnea... |
OMIM:610921 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Familial Dysautonomia |
|
Avascular necrosis, Recurrent fractures, Gait disturbance, Hypertension, Ataxia, Osteolysis, Impa... |
ORPHA:1764 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Intermediate Nemaline Myopathy |
|
Flexion contracture, Multiple prenatal fractures, Difficulty walking, Respiratory failure, Arthro... |
ORPHA:171433 |
Glycogen Storage Disease Xv |
|
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, ST segment eleva... |
OMIM:613507 |
Menkes Disease |
|
Chorea, Chondrocalcinosis, Osteomyelitis, Recurrent fractures, Intrauterine growth retardation, I... |
ORPHA:565 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Irregular ossification at anterior rib ends, Metaphyseal sclerosi... |
OMIM:260400 |
Mirage Syndrome |
|
Adrenal insufficiency, Hypoglycemia, Hyponatremia, Thrombocytopenia, Rocker bottom foot, Radial c... |
OMIM:617053 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Ventricular arrhythmia, Syn... |
ORPHA:300751 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Respiratory distress, Inc... |
ORPHA:26792 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteomyelitis, Recurrent fractures, Increased circulating IgE level, Cough, Joint hyperflexibilit... |
ORPHA:2314 |
Congenital Myopathy 10A, Severe Variant |
|
Camptodactyly of finger, Respiratory insufficiency, Respiratory distress, Elevated circulating cr... |
OMIM:614399 |
3-Methylglutaconic Aciduria Type 1 |
|
3-Methylglutaconic aciduria, Progressive cerebellar ataxia, Dystonia, Hypoglycemia |
ORPHA:67046 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Short stature, Glycosuria, Hypophosphatemia, Hyperphosphaturia, Rickets, Diabetes ... |
OMIM:616026 |
Kallmann Syndrome |
|
Recurrent fractures, Anterior hypopituitarism, Hypothalamic gonadotropin-releasing hormone defici... |
ORPHA:478 |
Lipoyltransferase 1 Deficiency |
|
Pulmonary arterial hypertension, Bradycardia |
OMIM:616299 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
3-Methylglutaconic aciduria, Gait imbalance, Short stature, Dilated cardiomyopathy, Elevated circ... |
OMIM:618120 |
Craniometadiaphyseal Dysplasia |
|
Genu varum, Genu valgum, Coxa valga, Wide anterior fontanel, Short stature, Flared metaphysis, Os... |
OMIM:269300 |
Familial Thyroid Dyshormonogenesis |
|
Delayed cranial suture closure, Increased radioactive iodine uptake, Elevated circulating thyroid... |
ORPHA:95716 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Knee flexion contracture, Patent ductus arteriosus, Telangiectasia, Upper limb undergrowth, Small... |
OMIM:608799 |
Developmental And Epileptic Encephalopathy 101 |
|
Third degree atrioventricular block, Bradycardia |
OMIM:619814 |
Campomelic Dysplasia |
|
Respiratory insufficiency, Hydronephrosis, Tracheobronchomalacia, Recurrent fractures, Short stat... |
ORPHA:140 |
Cardiomyopathy, Dilated, 1Y |
|
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... |
OMIM:611878 |
Osteoglophonic Dysplasia |
|
Short phalanx of finger, Increased susceptibility to fractures, Pseudoarthrosis, Short foot, Shor... |
OMIM:166250 |
Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Coxa vara, Delayed calcaneal ossification, Hip dislocation, Respiratory d... |
OMIM:183900 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary arterial hypertension, Bowing of the long bones, Anemia, Recurrent fractures, Hypophosp... |
ORPHA:667 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Abnormal circulating fatty-acid concentra... |
ORPHA:263455 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Polydactyly, Delayed closure of the anterior fontanelle, Short stature, Clinodactyly of the 5th f... |
ORPHA:231140 |
Glycogen Storage Disease Ib |
|
Hyperuricemia, Short stature, Enlarged kidney, Hypertension, Gout, Osteoporosis, Delayed puberty,... |
OMIM:232220 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Joint contracture, Respiratory distress, Inability to walk |
OMIM:617977 |
Roifman Syndrome |
|
Short toe, Hip contracture, Decreased T cell activation, Short stature, Decreased circulating ant... |
ORPHA:353298 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Severe short stature, Hypoglycemia, Intrauterine growth retardation |
OMIM:223500 |
Trimethylaminuria |
|
Tachycardia, Hypertension |
OMIM:602079 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Hyperinsulinemia, Ketotic hypoglycemia, Decr... |
ORPHA:324575 |
Pulmonary Hypertension, Primary, 3 |
|
Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Dyspnea, Elevated pulmo... |
OMIM:615343 |
Late-Onset Isolated Acth Deficiency |
|
Hypotension, Orthostatic hypotension, Generalized bone demineralization, Hyperuricemia, Normocyti... |
ORPHA:199299 |
Illum Syndrome |
|
Bradycardia |
OMIM:208155 |
Hamamy Syndrome |
|
Neck pterygia, Tapered finger, Recurrent fractures, Hip dysplasia, Clinodactyly of the 5th finger... |
OMIM:611174 |
Grange Syndrome |
|
Patent ductus arteriosus, Increased susceptibility to fractures, Hypertension, Aortic regurgitati... |
ORPHA:79094 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Anemia, Renal tubular acidosis, Short stature, Abnormal erythrocyte enzyme level, Elevated circul... |
ORPHA:264580 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Flexion contracture, Patellar dislocation, Abnormally ossified vertebrae, Short stature, Epiphyse... |
ORPHA:35173 |
Craniofaciofrontodigital Syndrome |
|
Pulmonary arterial hypertension, Patent ductus arteriosus, Persistent fetal circulation, Finger j... |
ORPHA:363705 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Hypothyroidism, Slender toe, Clinodactyly, Joint laxity, Down-sloping shoulders, Broad-based gait... |
ORPHA:391408 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Flexion contracture, Abnormal renal corticomedullary differentiation, Hypertension, Respiratory d... |
OMIM:616733 |
Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Wrist flexion contracture, Hydronephrosis, Recurrent fractures, ... |
OMIM:609465 |
Frank-Ter Haar Syndrome |
|
Short phalanx of finger, Delayed cranial suture closure, Wide anterior fontanel, Short long bone,... |
OMIM:249420 |
Marbach-Rustad Progeroid Syndrome |
|
Right bundle branch block, Pulmonary insufficiency, Short stature, Insulin resistance, Growth del... |
OMIM:619322 |
Antley-Bixler Syndrome |
|
Camptodactyly of finger, Delayed cranial suture closure, Recurrent fractures, Elbow ankylosis, Na... |
ORPHA:83 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Increased susceptibility to fractures, Reduced natural killer cell count, Decreased circulating t... |
OMIM:619752 |
Mohr-Tranebjaerg Syndrome |
|
Increased susceptibility to fractures, Tremor, Dystonia |
OMIM:304700 |
Insulin-Like Growth Factor I Deficiency |
|
Short stature, Clinodactyly of the 5th finger, Decreased serum insulin-like growth factor 1, Dela... |
OMIM:608747 |
Thyroid Lymphoma |
|
Upper airway obstruction, Dyspnea, Respiratory distress, Stridor |
ORPHA:97285 |
Bardet-Biedl Syndrome 16 |
|
Polydactyly, Short stature, Hypogonadism, Stage 5 chronic kidney disease, Respiratory distress, R... |
OMIM:615993 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Antenatal intracerebral hemorrhage, Respiratory insufficiency, Tapered finger, Tapered toe, Elbow... |
OMIM:608836 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Increased susceptibility to fractures, Tip-toe gait, Aspiration pneumonia, Inability to walk, Gai... |
ORPHA:216866 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Hyperalaninemia, Hyperglycinemia, Death in infancy, Adrenal insufficiency, Elevate... |
OMIM:619386 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hip subluxation, Flexion contracture, Advanced ossification of carpal bones, Coxa valga, Hallux v... |
OMIM:271640 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy |
OMIM:616974 |
Distal Renal Tubular Acidosis |
|
Aminoaciduria, Hyperphosphaturia, Low-molecular-weight proteinuria, Nephrolithiasis, Reduced bone... |
ORPHA:18 |
Odontochondrodysplasia |
|
Patent ductus arteriosus, Coxa valga, Abnormal metaphysis morphology, Death in infancy, Short sta... |
ORPHA:166272 |
Lysinuric Protein Intolerance |
|
Respiratory insufficiency, Leukopenia, Anemia, Intraalveolar phospholipid accumulation, Pulmonary... |
OMIM:222700 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed cranial suture closure, Elevated circulating thyroid-stimulating hormone concentration, R... |
OMIM:601812 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Lytic de... |
OMIM:601376 |
Interstitial Lung Disease 2 |
|
Pulmonary arterial hypertension, Exertional dyspnea, Dyspnea, Cough, Decreased DLCO |
OMIM:178500 |
Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Anterior hypopituitarism, Hypoplasia of penis, Congestive heart failu... |
ORPHA:2022 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Bradycardia |
OMIM:614654 |
Mucopolysaccharidosis-Plus Syndrome |
|
Flexion contracture, Inability to walk, Flared iliac wing, Hypertrophic cardiomyopathy, Bone marr... |
OMIM:617303 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Recurrent fractures, Short stature, Glycosuria, Stage 5 chronic kidney disease, Rickets, Renal Fa... |
OMIM:268315 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|