AV junctional rhythm | 1 | Aug 28, 2014 |
Acute intermittent porphyria | 6 | Aug 28, 2014 |
Adenocarcinoma | 1 | Aug 28, 2014 |
Aganglionic megacolon | 9 | Nov 22, 2015 |
Alpha-1-antitrypsin deficiency | 7 | Aug 28, 2014 |
Altered myosin contractile function | 1 | Aug 28, 2014 |
Andersen Tawil syndrome | 1 | Aug 28, 2014 |
Angiokeratoma corporis diffusum | 3 | Oct 25, 2017 |
Aortic aneurysm | 2 | Nov 22, 2015 |
Aortic aneurysm, familial thoracic 4 | 2 | Feb 29, 2016 |
Aortic aneurysm, familial thoracic 6 | 3 | Mar 11, 2015 |
Aortic aneurysm, familial thoracic 7 | 1 | Feb 29, 2016 |
Arrhythmogenic cardiomyopathy with woolly hair and keratoderma | 1 | Aug 28, 2014 |
Arrhythmogenic right ventricular cardiomyopathy | 40 | Oct 25, 2017 |
Arrhythmogenic right ventricular dysplasia 1 | 2 | Mar 11, 2015 |
Astrocytoma | 1 | Jul 29, 2016 |
Atrial fibrillation | 4 | Aug 28, 2014 |
Autosomal recessive limb-girdle muscular dystrophy type 2F | 1 | Aug 28, 2014 |
Axial myopathy, late-onset | 2 | Aug 28, 2014 |
Becker muscular dystrophy | 2 | Aug 28, 2014 |
Bloom syndrome | 2 | Feb 29, 2016 |
Breast and colorectal cancer | 1 | Aug 28, 2014 |
Breast and/or ovarian cancer | 12 | Nov 22, 2015 |
Breast neoplasm | 45 | Dec 2, 2016 |
Brugada syndrome | 16 | Oct 25, 2017 |
Brugada syndrome (shorter-than-normal QT interval) | 2 | Aug 28, 2014 |
Brugada syndrome, lidocaine-induced | 2 | Aug 28, 2014 |
Carcinoma of colon | 1 | Feb 29, 2016 |
Carcinoma of male breast | 1 | Aug 28, 2014 |
Cardiac arrhythmia | 2 | Aug 28, 2014 |
Cardiomyopathy | 1 | Nov 22, 2015 |
Carney complex | 1 | Aug 28, 2014 |
Catecholaminergic polymorphic ventricular tachycardia 1 | 2 | Aug 28, 2014 |
Central core myopathy | 3 | Aug 28, 2014 |
Charcot-Marie-Tooth disease | 1 | Aug 28, 2014 |
Colon cancer | 2 | Dec 2, 2016 |
Colorectal / endometrial cancer | 2 | Aug 28, 2014 |
Colorectal adenoma | 13 | Nov 22, 2015 |
Colorectal cancer | 30 | Sep 30, 2018 |
Colorectal cancer, early onset | 1 | Aug 28, 2014 |
Colorectal cancer, non-polyposis | 24 | Nov 22, 2015 |
Conduction system disorder | 1 | Aug 28, 2014 |
Congenital aneurysm of ascending aorta | 7 | Oct 25, 2017 |
Congenital diarrhea 5 with tufting enteropathy | 1 | Aug 28, 2014 |
Congenital heart disease | 1 | Aug 28, 2014 |
Congenital muscular dystrophy | 1 | Aug 28, 2014 |
Congenital myopathy | 8 | Aug 28, 2014 |
Congenital myopathy with cores | 1 | Aug 28, 2014 |
Cowden syndrome | 1 | Aug 28, 2014 |
Cowden syndrome 1 | 1 | Aug 28, 2014 |
Cystinuria | 2 | Aug 28, 2014 |
Dopa-responsive dystonia | 1 | Aug 28, 2014 |
Early repolarization associated with ventricular fibrillation | 1 | Aug 28, 2014 |
Ehlers-Danlos syndrome, type 4 | 7 | Dec 2, 2016 |
Elevated basal serum calcitonin | 1 | Aug 28, 2014 |
Emery-Dreifuss muscular dystrophy | 1 | Aug 28, 2014 |
Endometrial carcinoma | 2 | Aug 28, 2014 |
Esophageal carcinoma | 1 | Nov 22, 2015 |
Exertional myalgia, muscle stiffness and myoglobinuria | 1 | Aug 28, 2014 |
Familial adenomatous polyposis 1 | 8 | Mar 11, 2015 |
Familial adenomatous polyposis 2 | 2 | Oct 25, 2017 |
Familial aortic aneurysms | 1 | Dec 2, 2016 |
Familial isolated arrhythmogenic right ventricular dysplasia | 5 | Nov 22, 2015 |
Familial multiple polyposis syndrome | 6 | Oct 25, 2017 |
Familial partial lipodystrophy, Dunnigan type | 2 | Aug 28, 2014 |
Familial spontaneous pneumothorax | 1 | Aug 28, 2014 |
Fumarase deficiency | 2 | Aug 28, 2014 |
Gastrointestinal polyposis | 2 | Aug 28, 2014 |
Gastrointestinal stromal tumor, familial | 2 | Feb 29, 2016 |
Gaucher disease | 1 | Feb 29, 2016 |
Generalized juvenile polyposis/juvenile polyposis coli | 1 | Nov 7, 2016 |
Gorlin syndrome | 7 | Oct 25, 2017 |
Haemorrhagic telangiectasia 1 | 6 | Nov 22, 2015 |
Haemorrhagic telangiectasia 2 | 4 | Aug 28, 2014 |
Hearing impairment | 1 | Feb 29, 2016 |
Hereditary antithrombin deficiency | 6 | Nov 22, 2015 |
Hereditary breast ovarian cancer syndrome | 17 | Oct 25, 2017 |
Hereditary diffuse gastric adenocarcinoma | 3 | Oct 25, 2017 |
Hereditary hemorrhagic telangiectasia | 1 | Sep 30, 2018 |
Hereditary mixed polyposis syndrome | 1 | Dec 2, 2016 |
Hereditary pheochromocytoma-paraganglioma | 1 | Oct 25, 2017 |
Holoprosencephaly sequence | 1 | Aug 28, 2014 |
Hyperammonemia | 1 | Nov 22, 2015 |
Hypercholesterolemia | 40 | Dec 2, 2016 |
Hypercholesterolemia, familial, 1 | 2 | Dec 2, 2016 |
Hyperparathyroidism | 2 | Aug 28, 2014 |
Hyperparathyroidism 2 with jaw tumors | 2 | Mar 11, 2015 |
Hyperphenylalaninemia | 1 | Aug 28, 2014 |
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency | 1 | Aug 28, 2014 |
Hypertrophic cardiomyopathy | 5 | Oct 25, 2017 |
Hypokalemic periodic paralysis | 1 | Aug 28, 2014 |
Increased left ventricular wall thickness | 3 | Nov 22, 2015 |
Insulin-resistant diabetes mellitus AND acanthosis nigricans | 1 | Nov 22, 2015 |
Jervell and Lange-Nielsen syndrome 1 | 1 | Aug 28, 2014 |
Li-Fraumeni syndrome | 5 | Oct 25, 2017 |
Loeys-Dietz syndrome 1 | 2 | Nov 22, 2015 |
Long QT syndrome | 58 | Oct 25, 2017 |
Long QT syndrome 2 | 4 | Nov 22, 2015 |
Long QT syndrome, drug-associated | 2 | Aug 28, 2014 |
Lymphedema | 1 | Aug 28, 2014 |
Lynch syndrome | 16 | Sep 30, 2018 |
Malignant hyperthermia and exertional rhabdomyolosis | 2 | Aug 28, 2014 |
Malignant hyperthermia equivocal with halotane | 1 | Aug 28, 2014 |
Malignant hyperthermia of anesthesia | 17 | Oct 25, 2017 |
Malignant hyperthermia, susceptibility to, 1 | 23 | Aug 28, 2014 |
Malignant tumor of breast | 2 | Oct 25, 2017 |
Malignant tumor of prostate | 2 | Nov 22, 2015 |
Mandibuloacral dysplasia | 1 | Aug 28, 2014 |
Marfan syndrome | 21 | Oct 25, 2017 |
Marfan syndrome, incomplete | 1 | Aug 28, 2014 |
Medullary thyroid carcinoma | 5 | Nov 22, 2015 |
Metabolic disease | 1 | Aug 28, 2014 |
Multi-minicore disease and atypical periodic paralysis | 1 | Aug 28, 2014 |
Multiminicore myopathy | 2 | Aug 28, 2014 |
Multiminicore/minicore/multicore disease | 1 | Aug 28, 2014 |
Multiple endocrine neoplasia, type 1 | 1 | Mar 11, 2015 |
Multiple endocrine neoplasia, type 2 | 1 | Aug 28, 2014 |
Multiple endocrine neoplasia, type 2a | 1 | Nov 22, 2015 |
Multiple fibrofolliculomas | 3 | Feb 29, 2016 |
Muscular dystrophy | 1 | Aug 28, 2014 |
Muscular dystrophy and arthrogryposis | 1 | Aug 28, 2014 |
Myopathy, RYR1-associated | 2 | Aug 28, 2014 |
Myopathy, progressive axial with cataracts | 1 | Aug 28, 2014 |
Myotonic dystrophy | 2 | Oct 25, 2017 |
Neoplasm of stomach | 3 | Aug 28, 2014 |
Oligodontia | 3 | Sep 30, 2018 |
Ornithine carbamoyltransferase deficiency | 2 | Aug 28, 2014 |
Orofacial cleft | 1 | Aug 28, 2014 |
Ovarian cancer | 6 | Nov 22, 2015 |
PRKAG2 cardiac syndrome | 1 | Aug 28, 2014 |
Papillary renal cell carcinoma type 1 | 2 | Aug 28, 2014 |
Paroxysmal familial ventricular fibrillation | 1 | Aug 28, 2014 |
Partial albinism | 2 | Nov 22, 2015 |
Peutz-Jeghers syndrome | 3 | Oct 25, 2017 |
Phenylketonuria | 2 | Aug 28, 2014 |
Pheochromocytoma | 7 | Mar 11, 2015 |
Polycythemia | 1 | Aug 28, 2014 |
Polymorphic ventricular tachycardia | 3 | Aug 28, 2014 |
Polyp of colon | 6 | Sep 30, 2018 |
Primary dilated cardiomyopathy | 27 | Oct 25, 2017 |
Primary familial hypertrophic cardiomyopathy | 74 | Nov 22, 2015 |
Rhabdomyosarcoma | 1 | Aug 28, 2014 |
SUDDEN INFANT DEATH SYNDROME | 3 | Nov 22, 2015 |
Sarcoma | 1 | Aug 28, 2014 |
Sudden cardiac death | 1 | Aug 28, 2014 |
Telangiectasia, hereditary hemorrhagic, type 1 | 2 | Mar 11, 2015 |
Thrombophilia due to protein C deficiency, autosomal dominant | 11 | Nov 22, 2015 |
Thrombophilia due to protein S deficiency, autosomal dominant | 13 | Nov 22, 2015 |
Tuberous sclerosis 2 | 1 | Feb 29, 2016 |
Tuberous sclerosis and lymphangiomyomatosis | 1 | Aug 28, 2014 |
Tuberous sclerosis syndrome | 17 | Oct 25, 2017 |
Turcot syndrome | 2 | Aug 28, 2014 |
Von Hippel-Lindau syndrome | 5 | Oct 25, 2017 |
Wilson disease | 4 | Nov 22, 2015 |