Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Hyperactivity, Anorexia, Aggressive behavior, Congestive heart failure, Abnorma... |
ORPHA:3077 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries |
OMIM:184700 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cryptorchidism, Effort-induced polymorphic vent... |
ORPHA:3282 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ... |
ORPHA:90301 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Progressive cerebellar ataxia, Progressive gait ataxia, Cardiomyopathy, Cognitive i... |
ORPHA:1177 |
Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... |
ORPHA:45452 |
Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
Ataxia-Telangiectasia |
|
Recurrent respiratory infections, Ataxia, Telangiectasia of the skin, Polycystic ovaries, Gait di... |
ORPHA:100 |
Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Isosexual pr... |
ORPHA:91348 |
Cln3 Disease |
|
Ataxia, Aggressive behavior, Mental deterioration, Depression, Bradykinesia, T-wave inversion, De... |
ORPHA:228346 |
Atrial Fibrillation, Familial, 11 |
|
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... |
OMIM:614049 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Waddling gait, Absent P wave, First degree atrioventricular block, Sudden cardiac death, Atrioven... |
OMIM:310300 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Short attention span, Enlarged ovaries, Hypospadias, Cryptorchidism, Dysphagia, Bi... |
ORPHA:2745 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Precocious puberty, Long penis, Cardiomyopathy, Polydipsia, Increased pineal vo... |
ORPHA:769 |
Peutz-Jeghers Syndrome |
|
Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Neoplasm of ... |
ORPHA:2869 |
Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Cardiomyopathy |
OMIM:300376 |
Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
Recessive Mitochondrial Ataxia Syndrome |
|
Ataxia, ST segment elevation, Dysmetria, Gait disturbance, Cognitive impairment, Dysphagia, Limb ... |
ORPHA:94125 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Pneumonia, Enlarged polycystic ovaries, Polycystic ovaries, Abnormal salivary g... |
ORPHA:2298 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... |
OMIM:611528 |
Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... |
OMIM:608751 |
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... |
OMIM:608758 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Abnormal EKG, Left-to-right shunt, Tachycardia, Cardiomegaly, Right ventricular fai... |
ORPHA:1329 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Polycystic ovaries |
ORPHA:488191 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Abnormal EKG, Myocardial infarction, Congestive heart failure, Abnormal pulmonary i... |
ORPHA:330001 |
Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
Hepatic Adenomas, Familial |
|
Polycystic ovaries |
OMIM:142330 |
Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... |
ORPHA:85451 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Breast hypoplasia, Hypopla... |
ORPHA:785 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... |
ORPHA:90796 |
Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
Brugada Syndrome 7 |
|
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... |
OMIM:613120 |
Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... |
ORPHA:101016 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,... |
ORPHA:508 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Depression, Ovarian cyst, Hypertension, Agitation, Mental deterioration, Emotional lability |
OMIM:610475 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Abnormality of male external genitalia, Adrenal hyperplasia, Abnormal externa... |
ORPHA:95699 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... |
OMIM:613243 |
Rett Syndrome |
|
Gait apraxia, Bruxism, Gait ataxia, Truncal ataxia, Abnormal T-wave, Motor deterioration, Prolong... |
OMIM:312750 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Rudiger Syndrome |
|
Ovarian cyst, Micropenis, Bicornuate uterus |
OMIM:268650 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... |
OMIM:609040 |
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Genital ulcers, Sple... |
OMIM:602450 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Ataxia, Enlarged polycystic ovaries, Adenoma se... |
ORPHA:201 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Hypertension, Polycystic ovaries |
ORPHA:79084 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Progressive neurologic deterioration, Congestive hear... |
ORPHA:90065 |
Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
Muscular Dystrophy, Duchenne Type |
|
Waddling gait, Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Ti... |
OMIM:310200 |
Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
Preeclampsia |
|
Hypertension, Elevated diastolic blood pressure, Elevated systolic blood pressure, Polycystic ova... |
ORPHA:275555 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Atrial fibrillation, Paroxysmal atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Female hypogonadism |
ORPHA:397685 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... |
ORPHA:99106 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Glycogen Storage Disease Xv |
|
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... |
OMIM:613507 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... |
ORPHA:66529 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... |
OMIM:255160 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, C... |
ORPHA:137675 |
Purine Nucleoside Phosphorylase Deficiency |
|
Cerebral vasculitis, Ataxia, Pneumonia, Splenomegaly, Recurrent upper respiratory tract infection... |
OMIM:613179 |
Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave |
ORPHA:1055 |
Dextrocardia |
|
Abnormal EKG, Abnormal reproductive system morphology, Abnormality of the spleen, Abnormal lung l... |
ORPHA:1666 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Peripartum Cardiomyopathy |
|
Tachycardia, Left ventricular systolic dysfunction, Right ventricular failure, Cardiogenic shock,... |
ORPHA:563 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walkin... |
ORPHA:100924 |
Congenital Fibrinogen Deficiency |
|
Tachycardia, Hemorrhagic ovarian cyst, Internal hemorrhage, Splenic rupture, Left ventricular hyp... |
ORPHA:335 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Crypto... |
ORPHA:91 |
Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Polycystic ovaries |
ORPHA:1643 |
Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Cardiomegaly, Inability to walk, Right bundle branch block, Tip-toe gait, Reduced l... |
ORPHA:268 |
Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertension, Polycystic ovaries |
ORPHA:280356 |
Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
Congenital Sialidosis Type 2 |
|
Hepatomegaly, Abnormal EKG, Ataxia, Respiratory tract infection, Dysmetria, Hepatosplenomegaly, T... |
ORPHA:93400 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Sudden cardiac death, Lymphangioma, Splenomegaly, Neopla... |
ORPHA:744 |
Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Recurrent upper respiratory tract infections, Attention deficit hyperactivity dis... |
ORPHA:284180 |
Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
Loeffler Endocarditis |
|
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... |
ORPHA:75566 |
Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cryptorchidism, Hypergonadotropic hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:3085 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal EKG, Jaw claudication, Abnormal pulmonary int... |
ORPHA:85443 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Polycystic ovaries |
OMIM:608709 |
Brugada Syndrome 5 |
|
ST segment elevation, Bundle branch block, Ventricular fibrillation |
OMIM:612838 |
Atrial Fibrillation, Familial, 14 |
|
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Polycystic ovaries |
ORPHA:2228 |
Friedreich Ataxia |
|
Abnormal EKG, Ataxia, Congestive heart failure, Limb ataxia, Gait ataxia, Hypertrophic cardiomyop... |
OMIM:229300 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... |
ORPHA:99103 |
Naxos Disease |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Cardiomegaly, Cong... |
OMIM:601214 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Abnormal spermatogenesis, Azoospermia, Ovarian cyst, Elevated circ... |
OMIM:228300 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Left axis deviation, Congestive heart failure, ST segment el... |
OMIM:261740 |
Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Abnormal testis morphology, Ataxia, Polycystic ovaries |
ORPHA:1227 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Recurrent respiratory infections, Hepatomegaly, Right axis deviat... |
OMIM:232300 |
Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Ovarian cyst, Joint hemorrhage |
ORPHA:327 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, T-wave ... |
ORPHA:263297 |
Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hepatomegaly, Tachycardia, Cardiac shunt, Cardiomegaly, Congestive heart failure, Left ventricula... |
ORPHA:860 |
Cystic Echinococcosis |
|
Multiple pulmonary cysts, Hepatomegaly, Pulmonary cyst, Abnormality of the testis size, Ovarian c... |
ORPHA:400 |
Distal Deletion 10P |
|
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries |
ORPHA:1580 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Polycystic ovaries, Hypertrophic cardiomyop... |
ORPHA:2348 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Polycystic ovaries, Hypertension, Hypertrop... |
ORPHA:79083 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo... |
ORPHA:90793 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... |
ORPHA:3093 |
Alternating Hemiplegia Of Childhood |
|
Ataxia, Cardiac conduction abnormality, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior,... |
ORPHA:2131 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymph node hypoplasia, Pneumonia, Absent tonsils, Hepatomegaly |
ORPHA:276 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Overgrowth of external genitalia, Precocious puberty in females, Congestive heart f... |
ORPHA:528 |
Meige Disease |
|
Lymph node hypoplasia, Pleural effusion, Absence of lymph node germinal center |
ORPHA:90186 |
Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation,... |
ORPHA:980 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Ataxia, Dysphagia, Arrhythmia |
ORPHA:480864 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Bronc... |
ORPHA:2969 |
Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism |
OMIM:613546 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Isosexual precocious puberty, Premature thelarche, Precocious puberty, Ambiguous genitalia, femal... |
ORPHA:90795 |
Luscan-Lumish Syndrome |
|
Polyphagia, Aggressive behavior, Polycystic ovaries |
OMIM:616831 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation... |
OMIM:615745 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... |
ORPHA:90068 |
Agammaglobulinemia, X-Linked |
|
Recurrent pneumonia, Epididymitis, Bronchiectasis, Bronchiolitis obliterans, Lymph node hypoplasi... |
OMIM:300755 |
Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... |
ORPHA:3464 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hypertension, Polycystic ovaries |
OMIM:604367 |
African Trypanosomiasis |
|
Hepatomegaly, Pericarditis, Abnormal EKG, Akinesia, Aggressive behavior, Splenomegaly, Myocarditi... |
ORPHA:3385 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Splenomegaly, Co... |
ORPHA:280365 |
Donohue Syndrome |
|
Precocious puberty, Ovarian cyst, Long penis, Clitoral hypertrophy |
OMIM:246200 |
Cardiac Diverticulum |
|
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Pul... |
ORPHA:1686 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Premature thelarche, Atrioventricular block, Polycystic ovaries, Hypertension, Nodular goiter |
ORPHA:371428 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Hypergonadotropic hypogonadism, Polycystic ovaries |
OMIM:268020 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... |
ORPHA:70591 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... |
ORPHA:90797 |
Fowler Urethral Sphincter Dysfunction Syndrome |
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Abnormality of the ovary, Polycystic ovaries |
ORPHA:2795 |
Scorpion Envenomation |
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Bundle branch block, Tachycardia, Restlessness, Ataxia, Cardiac conduction abnormality, Congestiv... |
ORPHA:466677 |
Exercise-Induced Malignant Hyperthermia |
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Prolonged QT interval, Ataxia, Confusion, Abnormal T-wave, ST segment depression, Hypotension, Le... |
ORPHA:466650 |
Akt2-Related Familial Partial Lipodystrophy |
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Hepatomegaly, Polycystic ovaries |
ORPHA:79085 |
Steinert Myotonic Dystrophy |
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Prolonged QRS complex, Decreased response to growth hormone stimulation test, Oral-pharyngeal dys... |
ORPHA:273 |
Lipe-Related Familial Partial Lipodystrophy |
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Hepatomegaly, Abnormal labia majora morphology, Polycystic ovaries |
ORPHA:435660 |
Estrogen Resistance |
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Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries |
OMIM:615363 |
Cowden Syndrome 1 |
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Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Varicocele, Goiter |
OMIM:158350 |
Infantile Systemic Hyalinosis |
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Telangiectasia of the skin, Aplasia/Hypoplasia of the thymus, Polycystic ovaries |
ORPHA:2176 |
Cowden Syndrome 6 |
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Hydrocele testis, Ovarian cyst, Varicocele, Goiter |
OMIM:615109 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
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Gonadal dysgenesis, Polycystic ovaries |
ORPHA:1770 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
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Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave |
ORPHA:231625 |
Mccune-Albright Syndrome |
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Hyperplasia of the Leydig cells, Elevated circulating growth hormone concentration, Precocious pu... |
ORPHA:562 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
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Telangiectasia of the skin, Abnormality of the lymphatic system, Hydrocele testis, Ovarian serous... |
ORPHA:276280 |
Familial Adenomatous Polyposis 4 |
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Ovarian cyst, Uterine leiomyoma |
OMIM:617100 |
Fibrous Dysplasia Of Bone |
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Antalgic gait, Precocious puberty in females, Elevated circulating growth hormone concentration, ... |
ORPHA:249 |
Cidec-Related Familial Partial Lipodystrophy |
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Hepatomegaly, Polycystic ovaries |
ORPHA:435651 |
Cowden Syndrome 5 |
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Hydrocele testis, Ovarian cyst, Goiter |
OMIM:615108 |
Short Syndrome |
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Ovarian cyst |
OMIM:269880 |
Woodhouse-Sakati Syndrome |
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Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... |
OMIM:241080 |
Acquired Generalized Lipodystrophy |
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Hepatomegaly, Abnormal cardiovascular system physiology, Polycystic ovaries, Hypertension, Cardio... |
ORPHA:79086 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Splenomegaly, Polycystic ovaries, Cardiomyopathy, Hepatomegaly |
ORPHA:264580 |
Hyperparathyroidism, Transient Neonatal |
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Ovarian cyst, Hyperparathyroidism, Enlarged kidney, Splenic cyst |
OMIM:618188 |
Peutz-Jeghers Syndrome |
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Neoplasm of the pancreas, Ovarian cyst, Intestinal bleeding, Precocious puberty with Sertoli cell... |
OMIM:175200 |
Dopamine Beta-Hydroxylase Deficiency |
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Abnormal EKG, Orthostatic hypotension, Syncope, Orthostatic syncope |
ORPHA:230 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Hepatomegaly, Splenomegaly, Labial hypertrophy, Polycystic ovaries, Cardiomyopathy, Polyphagia, C... |
OMIM:608594 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Splenomegaly, Polycystic ovaries, Hepatomegaly |
ORPHA:79240 |
Gitelman Syndrome |
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Neoplasm of the pancreas, Prolonged QT interval, Polydipsia, Salt craving, Raynaud phenomenon, Lo... |
ORPHA:358 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Recurrent respiratory infections, Hyperactivity, Hypospadias, Pneumonia, Cardiac conduction abnor... |
ORPHA:353281 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Hepatomegaly, Splenomegaly, Labial hypertrophy, Polycystic ovaries, Hypertrophic cardiomyopathy, ... |
OMIM:269700 |
Carney Complex |
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Neoplasm of the pancreas, Ovarian dermoid cyst, Pituitary growth hormone cell adenoma, Sertoli ce... |
ORPHA:1359 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
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Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst |
ORPHA:454840 |
Chromosome 17Q12 Deletion Syndrome |
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Cryptorchidism, Pica, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus |
OMIM:614527 |
Digeorge Syndrome |
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Parathyroid agenesis, Atelectasis, Splenomegaly, Recurrent pneumonia, Parathyroid hypoplasia, Hyd... |
OMIM:188400 |
Williams Syndrome |
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Hypoplasia of penis, Myocardial infarction, Cardiomegaly, Dysmetria, Compulsive behaviors, Ataxia... |
ORPHA:904 |
Lipodystrophy, Familial Partial, Type 2 |
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Hepatomegaly, Hypertension, Labial pseudohypertrophy, Polycystic ovaries |
OMIM:151660 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hepatomegaly, Epistaxis, Polycystic ovaries, Hypertension, Pulmonary venous hypertension, Cogniti... |
ORPHA:79259 |
Friedreich Ataxia 2 |
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Abnormal EKG, Concentric hypertrophic cardiomyopathy, Ataxia, Congestive heart failure |
OMIM:601992 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... |
OMIM:201750 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Recurrent respiratory infections, Hyperactivity, Hypospadias, Pneumonia, Cardiac conduction abnor... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Recurrent respiratory infections, Hyperactivity, Hypospadias, Pneumonia, Cardiac conduction abnor... |
ORPHA:353277 |
Orofaciodigital Syndrome I |
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Pancreatic cysts, Ovarian cyst, Hypertension |
OMIM:311200 |
Cerebellar-Facial-Dental Syndrome |
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Cryptorchidism, Abnormal T-wave |
ORPHA:444072 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
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Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol... |
ORPHA:572333 |
Alström Syndrome |
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Decreased response to growth hormone stimulation test, Hypoplasia of the Leydig cells, Micropenis... |
ORPHA:64 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
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Micropenis, Left-to-right shunt, Hypospadias, Endometriosis |
ORPHA:363444 |
Beaulieu-Boycott-Innes Syndrome |
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Endometriosis |
OMIM:613680 |