Finger Locking, Recurrent, With Intrauterine Growth Retardation And Proportionate Short Stature |
|
Intrauterine growth retardation, Short stature |
OMIM:135950 |
Cardiomyopathy, Dilated, 1M |
|
Impaired myocardial contractility, Reduced left ventricular ejection fraction, Congestive heart f... |
OMIM:607482 |
Cardiomyopathy, Dilated, 2A |
|
Myofiber disarray, Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular e... |
OMIM:611880 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... |
OMIM:613424 |
Cardiomyopathy, Dilated, 1W |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... |
OMIM:611407 |
Cardiomyopathy, Dilated, 1Cc |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... |
OMIM:613122 |
Cardiomyopathy, Dilated, 1I |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congestive heart failure, Red... |
OMIM:604765 |
Cardiomyopathy, Dilated, 1Jj |
|
Dilated cardiomyopathy, Reduced left ventricular ejection fraction |
OMIM:615235 |
Cardiomyopathy, Dilated, 1Ee |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613252 |
Cardiomyopathy, Dilated, 1Ff |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:613286 |
Cardiomyopathy, Dilated, 1Dd |
|
Sudden cardiac death, Left ventricular systolic dysfunction, Congestive heart failure, Dilated ca... |
OMIM:613172 |
Cardiomyopathy, Dilated, 1L |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Incre... |
OMIM:606685 |
Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume |
OMIM:613881 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... |
OMIM:601493 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... |
OMIM:612158 |
Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy |
OMIM:609909 |
Cardiomyopathy, Dilated, 1J |
|
Sudden cardiac death, Abnormal left ventricular function, Congestive heart failure, Dilated cardi... |
OMIM:605362 |
Cardiomyopathy, Dilated, 1Z |
|
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy |
OMIM:611879 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Abnormal cardiac ventricular function, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:217622 |
Cardiomyopathy, Dilated, 1U |
|
Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilat... |
OMIM:613694 |
Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Left ... |
OMIM:615396 |
Cardiomyopathy, Dilated, 1Gg |
|
Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ... |
OMIM:613642 |
Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:34587 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation |
OMIM:616500 |
Cardiomyopathy, Dilated, 1Kk |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Increased left ventricular end-diastolic vo... |
OMIM:615248 |
His Bundle Tachycardia |
|
Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia |
ORPHA:3283 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Left ve... |
OMIM:615373 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card... |
OMIM:600884 |
Cardiomyopathy, Dilated, 3B |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume |
OMIM:302045 |
Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
Barth Syndrome |
|
Dilated cardiomyopathy, Endocardial fibroelastosis |
ORPHA:111 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... |
OMIM:617912 |
Heart-Hand Syndrome, Slovenian Type |
|
Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod... |
ORPHA:168796 |
Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
Cardiomyopathy, Dilated, 1Bb |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:612877 |
Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
Cardiomyopathy, Dilated, 2G |
|
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... |
OMIM:619897 |
Cardiomyopathy, Familial Hypertrophic, 3 |
|
Sudden cardiac death, Hypertrophic cardiomyopathy |
OMIM:115196 |
Bardet-Biedl Syndrome 2 |
|
Hypogonadism, Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect, Diabetes mellitus |
OMIM:615981 |
Cardiomyopathy, Dilated, 1X |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular... |
OMIM:611615 |
Cardiomyopathy, Dilated, 2D |
|
Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:619371 |
Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Congestive hea... |
OMIM:613697 |
Cardiomyopathy, Dilated, 2B |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... |
OMIM:614672 |
Cardiomyopathy, Dilated, 2C |
|
Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced left ventricular ejection fraction |
OMIM:618189 |
Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Polycystic ovaries, Hypergonadotropic hypogonadism, Precocious puberty, Dilated cardiomyopathy |
ORPHA:2229 |
Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... |
OMIM:608569 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Pulmonary arterial hypertension, Myofiber disarray, Apical hypertrophic cardiomyopathy, Left vent... |
OMIM:613255 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Hemochromatosis, Type 2A |
|
Dilated cardiomyopathy, Congestive heart failure, Hepatomegaly, Arrhythmia, Hypogonadotropic hypo... |
OMIM:602390 |
Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, Hypertro... |
OMIM:601419 |
Cardiomyopathy, Dilated, 1G |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... |
OMIM:604145 |
Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy |
OMIM:610140 |
Cardiomyopathy, Dilated, 1Ii |
|
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Ventricular tachycardia,... |
OMIM:615184 |
Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
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 |
Cardiomyopathy, Dilated, 2F |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:619747 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Myofiber disarray, Restrictive cardiomyopathy, Cardiogenic shock, Dilated cardiomyopathy, Myocard... |
OMIM:619424 |
Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, D... |
OMIM:601494 |
Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy |
ORPHA:154 |
Hemochromatosis Type 2 |
|
Diabetes mellitus, Abnormality of endocrine pancreas physiology, Dilated cardiomyopathy, Hypogona... |
ORPHA:79230 |
Cardiomyopathy, Familial Hypertrophic, 28 |
|
Sudden cardiac death, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruct... |
OMIM:619402 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Pulmonic stenosis, Dilated cardiomyopathy |
ORPHA:79159 |
Cardiomyopathy, Dilated, 1E |
|
Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti... |
OMIM:601154 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Dilated cardiomyopathy |
OMIM:619903 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Myocardial s... |
OMIM:612422 |
Paragangliomas 6 |
|
Elevated circulating catecholamine level, Hypertension, Paraganglioma |
OMIM:618464 |
Cardiomyopathy, Dilated, 1Nn |
|
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... |
OMIM:615916 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Dilated cardiomyopathy |
OMIM:618097 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Hypothyroidism, Cardiomyopathy |
OMIM:619647 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte hypertrophy, Congestive heart failure |
OMIM:605676 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Dilated cardiomyopathy |
OMIM:604286 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlar... |
OMIM:115210 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:206546 |
Peripartum Cardiomyopathy |
|
Sinus tachycardia, Cardiogenic shock, Palpitations, Abnormality of thyroid physiology, Elevated j... |
ORPHA:563 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Dilated cardiomyopathy, Congestive heart failure, Cardiomyopathy |
OMIM:608099 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Endocardial fibroelastosis, Impaired myocardial contractility, Left ventricular diastolic dysfunc... |
OMIM:618052 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Congenital hypothyroidism |
ORPHA:88643 |
Cardiac Lipidosis, Familial |
|
Congestive heart failure, Cardiomyopathy |
OMIM:212080 |
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Sudden cardiac death, Interstitial cardiac fibrosis, Reduced left ventricular ejection fraction, ... |
OMIM:181350 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Right bundle branch block, Redu... |
OMIM:115197 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Bradycardia, Dilated cardiomyopathy, Cryptorchidism |
OMIM:618815 |
D-2-Hydroxyglutaric Aciduria 2 |
|
Cardiomyopathy |
OMIM:613657 |
Glycogen Storage Disease 0, Muscle |
|
Left atrial enlargement, Left ventricular hypertrophy, Cardiomyopathy |
OMIM:611556 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Dilated cardiomyopathy |
OMIM:300580 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Dilated cardiomyopathy |
OMIM:612937 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Dilated cardiomyopathy |
OMIM:300718 |
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Reduced systolic function, Dilated cardiomyopathy |
OMIM:616827 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Hype... |
OMIM:613690 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh... |
OMIM:115200 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... |
OMIM:617047 |
Myopathy, Distal, 1 |
|
Left atrial enlargement, Dilated cardiomyopathy |
OMIM:160500 |
Dpm3-Cdg |
|
Dilated cardiomyopathy |
ORPHA:263494 |
Isolated Right Ventricular Hypoplasia |
|
Patent foramen ovale, Systolic heart murmur, Right bundle branch block, Bidirectional shunt, Abno... |
ORPHA:439 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Adrenal insufficiency, Hypothyroidism, Impaired growth-hormone response to insulin stimulation test |
OMIM:262700 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating ACTH level, Congenital adrenal hyperplasia |
OMIM:613571 |
8P23.1 Duplication Syndrome |
|
Adrenal insufficiency, Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:251076 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy, Hepatomegaly |
OMIM:600649 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Right bundle branch block, Left ventricular systolic dysfunction, Dilated cardiomyopathy |
ORPHA:206559 |
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:619688 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr... |
ORPHA:300751 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Hypergonadotropic hypogonadism, Mitral regurgitation, Dilated cardiomyopathy |
OMIM:212112 |
Familial Dyskinesia And Facial Myokymia |
|
Dilated cardiomyopathy, Congestive heart failure |
ORPHA:324588 |
Hyperaldosteronism, Familial, Type I |
|
Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level, Hypertension, Adre... |
OMIM:103900 |
Left Ventricular Noncompaction 1 |
|
Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr... |
OMIM:604169 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
Cardiomyopathy, Dilated, 1Y |
|
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Dilated cardiomyopathy, Increas... |
OMIM:611878 |
Familial Hyperaldosteronism Type Iii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Left ventricular hypertrophy, Intracranial... |
ORPHA:251274 |
Cardiomyopathy, Dilated, 2E |
|
Ebstein anomaly of the tricuspid valve, Reduced systolic function, Dilated cardiomyopathy |
OMIM:619492 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Cryp... |
OMIM:620135 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, Decreased testicular size, Dilated cardiomyopathy, Congestive heart failure... |
OMIM:610198 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Dilated cardiomyopathy |
ORPHA:34515 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Hypertrophic cardiomyopathy... |
OMIM:614096 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertrophic cardiomyopathy |
OMIM:607487 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased response to growth hormone stimulation test, Ischemic stroke, Cerebral hemorrhage, Decr... |
ORPHA:280679 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Severely reduced left ventricular ejection fraction, Congestive heart failu... |
OMIM:611705 |
Pituitary Adenoma 1, Multiple Types |
|
Increased circulating prolactin concentration, Left ventricular hypertrophy, Hypertension, Pituit... |
OMIM:102200 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Right bundle branch block, Sinus tachycardia, Elevated jugular venous press... |
OMIM:255160 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Dilated cardiomyopathy |
OMIM:602541 |
Atrial Standstill 1 |
|
Paroxysmal atrial fibrillation, Atrial standstill, Premature atrial contractions, Atrial cardiomy... |
OMIM:108770 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hypertrophic cardiomyopat... |
OMIM:614676 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Congestive hear... |
OMIM:614473 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Hyperaldosteronism, Ventricular septal ... |
ORPHA:369929 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hypothyroidism, Left ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Cardiomyopathy |
OMIM:617713 |
Cardiomyopathy, Dilated, 1S |
|
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:613426 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... |
OMIM:608751 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomyopathy |
OMIM:609016 |
Familial Isolated Restrictive Cardiomyopathy |
|
Interstitial cardiac fibrosis, Supraventricular arrhythmia, Syncope, Hypertrophic cardiomyopathy,... |
ORPHA:75249 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Congenital Gerbode Defect |
|
Pulmonary arterial hypertension, Systolic heart murmur, Bacterial endocarditis, Ventricular septa... |
ORPHA:99095 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Decreased testicular ... |
OMIM:300845 |
Danon Disease |
|
Second degree atrioventricular block, Increased QRS voltage, Severely reduced left ventricular ej... |
OMIM:300257 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Reduced systolic function, Pancreatitis, Dilated cardiomyopathy, Hepatomegaly |
OMIM:618805 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Reduced left vent... |
OMIM:613876 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Left ventricular outflow tract obstruction, Biventricular hypertrophy, Hepatomegaly, Hyperhidrosi... |
ORPHA:860 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:252011 |
Familial Hyperaldosteronism Type Ii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Intracranial hemorrhage, Hypertension, Adr... |
ORPHA:404 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Patent foramen ovale, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular nonc... |
OMIM:619167 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Sudden cardiac death, Reduced left ventricular endsystolic diameter, Ventricular septal hypertrop... |
OMIM:612124 |
Naxos Disease |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... |
OMIM:601214 |
Timothy Syndrome |
|
Patent foramen ovale, Hypothyroidism, Ventricular septal defect, Prolonged QT interval, Cardiomeg... |
OMIM:601005 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
Autoimmune Polyendocrinopathy Type 1 |
|
Decreased circulating aldosterone level, Increased circulating cortisol level, Adrenal hyperplasi... |
ORPHA:3453 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Hypergonadotropic hypogonadism, Dilated cardiomyopathy, Arrhythmia |
OMIM:615084 |
Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Systolic heart murmur, Left ventricular outflow tract obstruction,... |
ORPHA:3092 |
Lipoid Congenital Adrenal Hyperplasia |
|
Adrenogenital syndrome, Congenital adrenal hyperplasia |
OMIM:201710 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Bicuspid aortic valve, Type II diabetes mellitus, Dilated cardiomyopathy, Aortic regurgitation, R... |
ORPHA:401923 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy |
ORPHA:1349 |
Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Left ventri... |
ORPHA:85451 |
Coronary Arterial Fistula |
|
Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Bacterial endocardi... |
ORPHA:2041 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:607598 |
Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Hypertension, Adrenal hyperplasia, Epistaxis, Secretory adrenocortical a... |
ORPHA:403 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Dilated cardiomyopathy |
OMIM:161800 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly, Atrioventricular block, Arrhythmia |
ORPHA:85447 |
Dk1-Cdg |
|
Interstitial cardiac fibrosis, Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hy... |
ORPHA:91131 |
Myopathy, Centronuclear, 5 |
|
Mitral regurgitation, Dilated cardiomyopathy |
OMIM:615959 |
Cirrhotic Cardiomyopathy |
|
Elevated pulmonary artery pressure, Left ventricular diastolic dysfunction, Third heart sound, Re... |
ORPHA:57777 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Dilated cardiomyopathy, Congestive heart failure |
OMIM:606703 |
Adult-Onset Nemaline Myopathy |
|
Dilated cardiomyopathy |
ORPHA:171442 |
Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy |
OMIM:192605 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Pallor |
ORPHA:228312 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... |
OMIM:613251 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Paroxysmal atrial... |
OMIM:613874 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... |
ORPHA:75566 |
Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnormal tricusp... |
ORPHA:555874 |
Malonyl-Coa Decarboxylase Deficiency |
|
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy |
OMIM:248360 |
Dermatitis, Atopic |
|
Facial erythema, Dry skin, Pallor |
OMIM:603165 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism, Congestive heart failure |
OMIM:300886 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Restrictive cardiomyopathy, Hypoplasia of the thymus, Pericardial effusion, Right atrial enlargem... |
OMIM:619313 |
Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Retinitis Pigmentosa 27 |
|
Pallor |
OMIM:613750 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper... |
OMIM:613838 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Hypergonadotropic hypogonadism, Dilated cardiomyopathy, Arrhythmia |
ORPHA:352447 |
Paragangliomas 3 |
|
Glomus jugular tumor, Hyperhidrosis, Hypertension associated with pheochromocytoma, Elevated circ... |
OMIM:605373 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Hypertension, Adrenal hyperplasia |
OMIM:201910 |
Polymyositis |
|
Abnormal atrioventricular conduction, Abnormal mitral valve morphology, Congestive heart failure,... |
ORPHA:732 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly, Hyperhidrosis |
OMIM:613576 |
Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... |
ORPHA:45453 |
Paragangliomas 1 |
|
Hyperhidrosis, Glomus jugular tumor, Hypertension associated with pheochromocytoma, Elevated circ... |
OMIM:168000 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Dilated cardiomyopathy |
OMIM:618120 |
Muscular Dystrophy, Becker Type |
|
Cardiomyopathy, Arrhythmia, Abnormal EKG |
OMIM:300376 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A... |
OMIM:262600 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Decreased circulating cortisol level |
OMIM:618838 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:219080 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Dilated cardiomyopathy |
ORPHA:272 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Atrial septal defect, Cardiomyopathy |
ORPHA:1909 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hepatomegaly, Hyperhidrosis |
OMIM:614299 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Dilated cardiomyopathy |
OMIM:255310 |
Neonatal Lupus Erythematosus |
|
Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial node origin, Heart block, Prolon... |
ORPHA:398124 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
Combined Oxidative Phosphorylation Deficiency 50 |
|
Adrenal insufficiency |
OMIM:619025 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Mitral valve prolapse, Left ventricular systolic dysfunction, Dilated cardiomyopathy |
OMIM:145350 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... |
OMIM:608758 |
Hemochromatosis, Type 1 |
|
Telangiectasia, Congestive heart failure, Testicular atrophy, Diabetes mellitus, Hepatomegaly, Ar... |
OMIM:235200 |
Alstrom Syndrome |
|
Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Decreased response to growth hormone stimul... |
OMIM:203800 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Pulmonary insufficiency, Heart murmur, Decreased testicular size, ... |
ORPHA:2326 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:615954 |
Congenital Disorder Of Glycosylation, Type It |
|
Sudden cardiac death, Pulmonary arterial hypertension, Ventricular septal defect, Dilated cardiom... |
OMIM:614921 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Hypertension, Adrenal hyperplasia |
OMIM:202110 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Heart murmur, Pulmonic valve myxoma, Congestive heart failure, Cardiac my... |
ORPHA:615 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Ventricular tachycardia, Syncope, Dilated cardiomyopathy |
OMIM:615821 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Hypertension, Adrenal hyperplasia, Primary hypercortisolism... |
OMIM:615830 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
OMIM:231530 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... |
ORPHA:1677 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Histiocytoid cardiomyopathy, Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Thy... |
OMIM:300952 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Adrenal insufficiency, Hypertrophic cardiomyopathy, Pancreatitis |
OMIM:619386 |
Muscular Dystrophy, Cardiac Type |
|
Cardiomyopathy, Abnormal EKG |
OMIM:309930 |
Laing Early-Onset Distal Myopathy |
|
Dilated cardiomyopathy |
ORPHA:59135 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Increased circulating cortisol level, Type II diabetes mellitus, Decreased circulating ACTH level... |
ORPHA:189439 |
Andersen-Tawil Syndrome |
|
Polymorphic ventricular tachycardia, Torsade de pointes, Abnormal T-wave, Hyperaldosteronism, Ven... |
ORPHA:37553 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... |
OMIM:612098 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Hypothyroidism, Right bundle branch block, T-wave inversion, Ventricular... |
ORPHA:263297 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Patent foramen ovale, Ventricular septal defect, Pericardial effusion, Dilated cardiomyopathy, At... |
ORPHA:26793 |
Congenital Myopathy 8 |
|
Cardiomegaly, Congestive heart failure |
OMIM:618654 |
Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Palpitations, Abnormal P wave, Tricuspid regurgitation, Third heart sound,... |
ORPHA:99106 |
Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:616730 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Congestive heart failure, Myocardial fibrosis, Hypertrophic cardiomyopathy,... |
OMIM:617222 |
Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
Complete Atrioventricular Septal Defect |
|
Systolic heart murmur, Displacement of the papillary muscles, Hepatomegaly, Abnormal P wave, Hype... |
ORPHA:1329 |
Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Bilateral cryptorchidism, Atrial septal defect, ... |
OMIM:618652 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pulmonary arterial hypertension, Systolic heart murmur, Unroofed coronary sinus, Transient ischem... |
ORPHA:99104 |
Atrial Standstill |
|
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... |
ORPHA:1344 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
Hemochromatosis, Type 2B |
|
Hypogonadism, Congestive heart failure, Hepatomegaly, Splenomegaly, Cardiomyopathy |
OMIM:613313 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Growth delay, Pallor |
OMIM:613561 |
Barth Syndrome |
|
Endocardial fibroelastosis, Congestive heart failure, Increased left ventricular end-diastolic vo... |
OMIM:302060 |
Dominant Beta-Thalassemia |
|
Hypothyroidism, Adrenal insufficiency, Hypopituitarism, Dilated cardiomyopathy, Hepatosplenomegal... |
ORPHA:231226 |
Dilated Cardiomyopathy With Ataxia |
|
Hypothyroidism, Bilateral cryptorchidism, Dilated cardiomyopathy, Prolonged QT interval, Muscular... |
ORPHA:66634 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Dilated cardiomyopathy, Congestive heart failure, Arrhythmia, Cardiomyopathy |
OMIM:310200 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypertension, Congestive heart failure, Dilated cardiomyopathy, Myocardial infarction, Cardiomegaly |
OMIM:208000 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hypertrophic cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy |
OMIM:611126 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Left ventricular hypertrophy, Angina pectoris, Myocardial fibrosis, Hypertrophic cardiomyopathy, ... |
OMIM:613873 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Atrial septal defect, Diabetes mellitus, Situs inversus totalis, Crypt... |
OMIM:249270 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Dilated cardiomyopathy, Congestive heart failure, Hepatosplenomegaly, Abnormal cardiomyocyte morp... |
ORPHA:367 |
Gm1-Gangliosidosis, Type I |
|
Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepa... |
OMIM:230500 |
Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Patent foramen ovale, Ventricular septal defect, Coronary artery fistula, Wolff-Parkinson-White s... |
OMIM:619343 |
X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
Aa Amyloidosis |
|
Hypotension, Hypothyroidism, Adrenal insufficiency, Enlarged kidney, Abnormal heart morphology, H... |
ORPHA:85445 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Angina pectoris, Ventricul... |
OMIM:115195 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... |
OMIM:613243 |
Atrial Septal Defect, Ostium Secundum Type |
|
Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function, Palpitati... |
ORPHA:99103 |
Adams-Oliver Syndrome 5 |
|
Pulmonary arterial hypertension, Patent foramen ovale, Splenomegaly, Right ventricular hypertroph... |
OMIM:616028 |
Beta-Thalassemia Major |
|
Hypothyroidism, Adrenal insufficiency, Hypopituitarism, Dilated cardiomyopathy, Hepatosplenomegal... |
ORPHA:231214 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Growth delay, Short stature, Pallor |
OMIM:615631 |
Hyperaldosteronism, Familial, Type Iii |
|
Decreased circulating renin level, Hyperaldosteronism, Hypertension, Adrenal hyperplasia |
OMIM:613677 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Ohdo Syndrome, Sbbys Variant |
|
Hypothyroidism, Dilated cardiomyopathy, Cryptorchidism |
OMIM:603736 |
Familial Cutaneous Collagenoma |
|
Congestive heart failure, Angina pectoris, Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypotension, Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Elevate... |
ORPHA:90791 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric ... |
OMIM:600858 |
Mcleod Syndrome |
|
Dilated cardiomyopathy, Hepatomegaly, Splenomegaly, Atrial fibrillation, Cardiomyopathy |
OMIM:300842 |
Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin level, Hyperte... |
ORPHA:231580 |
Pituitary Gigantism |
|
Hyperhidrosis, Increased circulating prolactin concentration, Type II diabetes mellitus, Left ven... |
ORPHA:99725 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hyperinsulinemic hypoglycemia, Hypertrophic cardiomyopathy, Prolonged QT ... |
ORPHA:71212 |
Cyclic Vomiting Syndrome |
|
Growth delay, Pallor |
OMIM:500007 |
Adrenal Hypoplasia, Congenital |
|
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... |
OMIM:300200 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Neutrophilic Dermatosis, Acute Febrile |
|
Dilated cardiomyopathy, Small vessel vasculitis |
OMIM:608068 |
Pure Autonomic Failure |
|
Orthostatic hypotension, Anhidrosis, Syncope, Abnormality of circulating catecholamine level |
ORPHA:441 |
Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:618348 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Pallor |
ORPHA:49827 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Pulmonary arterial hypertension, Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomega... |
OMIM:619051 |
Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopathy, Hypertrophic cardiomyo... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopathy, Hypertrophic cardiomyo... |
ORPHA:98853 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Adrenal gland agenesis |
OMIM:611812 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Abnormal left ventricular function, Dilated cardiomyopathy |
OMIM:607155 |
Carnitine Deficiency, Systemic Primary |
|
Endocardial fibroelastosis, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgi... |
OMIM:212140 |
Melas |
|
Pulmonary arterial hypertension, Hypothyroidism, Recurrent pancreatitis, Concentric hypertrophic ... |
ORPHA:550 |
Familial Glucocorticoid Deficiency |
|
Hypotension, Leydig cell neoplasia, Precocious puberty, Decreased circulating aldosterone level, ... |
ORPHA:361 |
Propionic Acidemia |
|
Cardiomyopathy, Hepatomegaly, Arrhythmia |
ORPHA:35 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Cerebellar hemorrhage, Congestive heart failure, Dilated cardiomyopathy, Hy... |
ORPHA:99901 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Elevated jugular venous pressure, Congestive heart failure, Decreased serum testo... |
ORPHA:465508 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly, Bradycardia |
OMIM:614702 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopathy, Ventricular escape rhy... |
ORPHA:98855 |
Autoimmune Polyendocrinopathy Type 2 |
|
Hypogonadism, Type I diabetes mellitus, Primary adrenal insufficiency, Graves disease, Hashimoto ... |
ORPHA:3143 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency,... |
ORPHA:71526 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
Naxos Disease |
|
Sudden cardiac death, Hyperhidrosis, Paroxysmal ventricular tachycardia, Congestive heart failure... |
ORPHA:34217 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Pulmonary arterial hypertension, Cardiomegaly, Hepatomegaly |
OMIM:619064 |
Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Splenomegaly, Congestive heart failure, Hepatomegaly |
OMIM:269920 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... |
OMIM:202010 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenal insuffici... |
OMIM:609734 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Pulmonary insufficiency, Bicuspid aortic valve, Mitral valve prolapse, Aortic regurgitation, Mitr... |
ORPHA:555877 |
Pseudohypoaldosteronism, Type Iia |
|
Pseudohypoaldosteronism, Hypertension |
OMIM:145260 |
Generalized Glucocorticoid Resistance Syndrome |
|
Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level... |
ORPHA:786 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macroorchidism, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Congestive hea... |
ORPHA:324410 |
Congenital Toxoplasmosis |
|
Cardiomegaly, Hepatomegaly |
ORPHA:858 |
Mulibrey Nanism |
|
Pericardial constriction, Congestive heart failure, Myocardial fibrosis, Hepatomegaly, Cardiomegaly |
OMIM:253250 |
Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly, Congestive heart failure, Arrhythmia |
OMIM:266500 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Dilated cardiomyopathy, Congestive heart failure, Arrhythmia |
OMIM:609015 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decre... |
ORPHA:189427 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Hyperaldosteronism, Pericardial effusion, Dilated cardiomyopathy, Congestiv... |
ORPHA:73224 |
Leigh Syndrome With Cardiomyopathy |
|
Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitati... |
ORPHA:70474 |
16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Mitral regurgitation, Ventricular septal defect, Cryptorchidism |
ORPHA:261250 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis... |
OMIM:201810 |
Mucopolysaccharidosis, Type Iiib |
|
Cardiomegaly, Splenomegaly, Asymmetric septal hypertrophy, Hepatomegaly |
OMIM:252920 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Non-Functioning Pituitary Adenoma |
|
Hypotension, Adrenal insufficiency, Anterior hypopituitarism, Increased circulating gonadotropin ... |
ORPHA:91349 |
Aorta Coarctation |
|
Pulmonary arterial hypertension, Aortic valve atresia, Perimembranous ventricular septal defect, ... |
ORPHA:1457 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Adrenal insufficiency, Hyperaldosteronism, Adrenocorticotropic hormone excess |
OMIM:613743 |
Kearns-Sayre Syndrome |
|
Third degree atrioventricular block, Primary adrenal insufficiency, Diabetes mellitus, Hypoparath... |
OMIM:530000 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Hypothyroidism, Hyperthyroidism, Reduced left ventricular ejection fraction, Ventricular arrhythm... |
ORPHA:254892 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Hypothyroidism, Diabetes mellitus, Dilated cardiomyopathy, Cryptorchidism |
OMIM:616541 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Neonatal death, Cardiomyopathy |
OMIM:618839 |
Neuraminidase Deficiency |
|
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy |
OMIM:256550 |
Von Hippel-Lindau Disease |
|
Pancreatic cysts, Hyperhidrosis, Adrenal pheochromocytoma, Pancreatic endocrine tumor, Elevated c... |
ORPHA:892 |
Myelofibrosis |
|
Purpura, Pallor |
OMIM:254450 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Antenatal intracerebral hemorrhage, Enlarged kidney, Dilated cardiomyopathy, Hepatomegaly, Arrhyt... |
OMIM:608836 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Atrial septal defect, Myocardial fibrosis, Transposition of the great art... |
OMIM:253800 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level |
OMIM:605115 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Dilated cardiomyopathy, Congestive heart failure, Hepatomegaly, Hematochezia, Splenomegaly, Cardi... |
OMIM:615895 |
Isolated Anencephaly/Exencephaly |
|
Primary adrenal insufficiency |
ORPHA:1048 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Short stature, Pallor |
OMIM:611590 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor |
ORPHA:276556 |
Evans Syndrome |
|
Petechiae, Pallor |
ORPHA:1959 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Pericardial effusion, T-wave inversion, Enlarged kidney, ST segment depression, Cong... |
OMIM:261740 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor |
ORPHA:276575 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Pallor |
OMIM:266200 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor |
ORPHA:276580 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hypotension, Hyperaldosteronism, Pseudohypoaldosteronism, Increased circulating renin level, Hype... |
OMIM:177735 |
Congenital Disorder Of Glycosylation, Type Im |
|
Bradycardia, Dilated cardiomyopathy |
OMIM:610768 |
Distal Monosomy 13Q |
|
Primary adrenal insufficiency, Abnormal cardiac septum morphology |
ORPHA:1590 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hypotension, Hyperaldosteronism, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism |
OMIM:264350 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Primary adrenal insufficiency, Elevated circulating thyroid-stimulating hormone concentration, Hy... |
OMIM:617872 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Macroorchidism, Increased circulating ACTH level, Decreased circulating cortisol level, Adrenal h... |
ORPHA:90790 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Left ventricular hypertrophy, Dilated cardiomyopathy |
OMIM:618321 |
Atrial Standstill 2 |
|
Dilatation of the ventricular cavity, Atrial standstill, Atrial cardiomyopathy, Palpitations, Atr... |
OMIM:615745 |
Collagenoma, Familial Cutaneous |
|
Cardiomyopathy, Right ventricular cardiomyopathy, Tricuspid regurgitation, Primary testicular fai... |
OMIM:115250 |
Arterial Tortuosity Syndrome |
|
Cardiac arrest, Congestive heart failure, Hypertension, Dilated cardiomyopathy, Myocardial infarc... |
ORPHA:3342 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Growth delay, Pallor |
OMIM:615234 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Increased serum testosterone level, Hydrocele testis, Congenital adrenal hyperplasia |
ORPHA:96181 |
Beta-Thalassemia |
|
Skin ulcer, Pallor |
ORPHA:848 |
Immunodeficiency 54 |
|
Adrenal insufficiency, Adrenocorticotropic hormone excess, Splenomegaly, Hepatomegaly |
OMIM:609981 |
Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Short stature, Pallor |
OMIM:609053 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Dilated cardiomyopathy |
ORPHA:70595 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Adrenal insufficiency |
OMIM:618238 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Raynaud phenomenon, Dilated cardiomyopathy, Hypertension, Hepatosplenomegaly, Type I diabetes mel... |
OMIM:615688 |
Tropical Endomyocardial Fibrosis |
|
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Corona... |
ORPHA:75565 |
Leishmaniasis |
|
Skin ulcer, Pallor |
ORPHA:507 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating dehydroepiandrosterone-sulfate concentration, Decreased circulating cortiso... |
ORPHA:95699 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
Wolman Disease |
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Adrenal insufficiency, Adrenal calcification, Splenomegaly, Hepatomegaly |
ORPHA:75233 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
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Sudden cardiac death, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, He... |
OMIM:201475 |
Fucosidosis |
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Cardiomegaly, Hypothyroidism, Hepatomegaly, Hyperhidrosis |
ORPHA:349 |
Alpha-N-Acetylgalactosaminidase Deficiency |
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Cardiomegaly |
ORPHA:3137 |
Myopathic Ehlers-Danlos Syndrome |
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Pallor |
ORPHA:536516 |
Glycerol Kinase Deficiency |
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Adrenal insufficiency, Adrenocortical hypoplasia, Cryptorchidism |
OMIM:307030 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
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Delayed puberty, Growth delay, Pallor |
OMIM:600462 |
Nestor-Guillermo Progeria Syndrome |
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Pulmonary arterial hypertension, Right bundle branch block, Sinus tachycardia, Hypertension, Decr... |
OMIM:614008 |
Hec Syndrome |
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Cardiomyopathy, Arrhythmia, Vaginal hydrocele, Endocardial fibroelastosis |
ORPHA:2119 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... |
OMIM:620066 |
Congenitally Corrected Transposition Of The Great Arteries |
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Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Premature atr... |
ORPHA:216694 |
Hb Bart'S Hydrops Fetalis |
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Pallor |
ORPHA:163596 |
Corticosterone Methyloxidase Type Ii Deficiency |
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Decreased circulating aldosterone level, Increased circulating renin level, Increased circulating... |
OMIM:610600 |
Vici Syndrome |
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Left ventricular hypertrophy, Dilated cardiomyopathy, Congestive heart failure, Atrial septal def... |
OMIM:242840 |
Cantu Syndrome |
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Pericardial effusion, Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve |
OMIM:239850 |
Primary Myelofibrosis |
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Ecchymosis, Purpura, Petechiae, Pallor |
ORPHA:824 |
Kcnq2-Related Epileptic Encephalopathy |
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Facial erythema, Pallor |
ORPHA:439218 |
Hypoadrenocorticism, Familial |
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Adrenal insufficiency, Adrenal hypoplasia |
OMIM:240200 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Hypotension, Cardiac arrest, Dilated cardiomyopathy, Acute pancreatitis, Hepatomegaly |
ORPHA:20 |
Dravet Syndrome |
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Pallor |
ORPHA:33069 |
Drug-Induced Autoimmune Hemolytic Anemia |
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Pallor |
ORPHA:90037 |
Chronic Thromboembolic Pulmonary Hypertension |
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Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ... |
ORPHA:70591 |
Anemia, Sideroblastic, 1 |
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Anemic pallor |
OMIM:300751 |
Craniofaciofrontodigital Syndrome |
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Pulmonary arterial hypertension, Persistent fetal circulation, Ventricular septal defect, Pericar... |
ORPHA:363705 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
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Dilated cardiomyopathy |
OMIM:613989 |
Carnitine Palmitoyltransferase I Deficiency |
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Cardiomegaly, Hepatomegaly, Arrhythmia |
OMIM:255120 |
Non-Functioning Paraganglioma |
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Pallor |
ORPHA:94080 |
Combined Oxidative Phosphorylation Deficiency 3 |
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Patent foramen ovale, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hepatomegaly |
OMIM:610505 |
Retinitis Pigmentosa 75 |
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Pallor |
OMIM:617023 |
Truncus Arteriosus |
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Hypoplasia of the thymus, Truncus arteriosus, Ventricular septal defect, Transposition of the gre... |
ORPHA:3384 |
Cold Agglutinin Disease |
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Pallor |
ORPHA:56425 |
Idiopathic Pulmonary Hemosiderosis |
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Heart murmur, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
Apparent Mineralocorticoid Excess |
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Decreased circulating aldosterone level, Abnormality of circulating cortisol level, Decreased cir... |
ORPHA:320 |
Primary Lipodystrophy |
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Type II diabetes mellitus, Pancreatitis, Hypertension, Congestive heart failure, Angina pectoris,... |
ORPHA:90970 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
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Pallor |
OMIM:613839 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Pulmonary arterial hypertension, Pancreatic hypoplasia, Splenomegaly, Facial telangiectasia, Vent... |
OMIM:602782 |
Pseudohypoaldosteronism, Type Iib |
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Pseudohypoaldosteronism, Hypertension |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
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Pseudohypoaldosteronism, Hypertension |
OMIM:614495 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
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Female hypogonadism, Hypothyroidism, Decreased circulating aldosterone level, Adrenal insufficien... |
OMIM:240300 |
Mogs-Cdg |
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Hypothyroidism, Left ventricular hypertrophy, Hydrocele testis, Atrial septal defect, Hepatosplen... |
ORPHA:79330 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
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Cardiomegaly, Hepatomegaly, Arrhythmia |
ORPHA:42 |
Autoimmune Hemolytic Anemia |
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Pallor |
ORPHA:98375 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
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Left ventricular outflow tract obstruction, Heart murmur, Left ventricular hypertrophy, Hypertrop... |
ORPHA:308552 |
X-Linked Adrenoleukodystrophy |
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Adrenal insufficiency, Abnormality of adrenal physiology, Increased circulating ACTH level |
ORPHA:43 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
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Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect |
OMIM:616897 |
Steinert Myotonic Dystrophy |
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Supraventricular tachycardia, Hyperinsulinemia, Decreased response to growth hormone stimulation ... |
ORPHA:273 |
Familial Aortic Dissection |
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Aortic regurgitation, Cardiomegaly, Abnormal left ventricular function |
ORPHA:229 |
Mixed-Type Autoimmune Hemolytic Anemia |
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Pallor |
ORPHA:90036 |
Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
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Pulmonary arterial hypertension, Cardiomegaly, Hypertension |
OMIM:613320 |
Heterotaxy, Visceral, 1, X-Linked |
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Subvalvular aortic stenosis, Atrioventricular canal defect, Hepatomegaly, Right atrial isomerism,... |
OMIM:306955 |
Idiopathic Hypereosinophilic Syndrome |
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Pulmonary embolism, Transient ischemic attack, Supraventricular arrhythmia, Raynaud phenomenon, P... |
ORPHA:3260 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
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Delayed puberty, Dilated cardiomyopathy |
ORPHA:89842 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Pallor |
ORPHA:3226 |
Tsh-Secreting Pituitary Adenoma |
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Hypotension, Enlarged pituitary gland, Pericardial effusion, Ventricular arrhythmia, Supraventric... |
ORPHA:91347 |
Hsd10 Disease, Infantile Type |
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Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Triple A Syndrome |
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Anterior hypopituitarism, Adrenal insufficiency |
ORPHA:869 |
Gaucher Disease, Type Iiic |
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Splenomegaly, Mitral stenosis, Hepatomegaly, Cardiomegaly, Aortic valve calcification, Mitral val... |
OMIM:231005 |
Congenital Dyserythropoietic Anemia Type Iii |
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Short stature, Pallor |
ORPHA:98870 |
Acquired Idiopathic Sideroblastic Anemia |
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Pallor |
ORPHA:75564 |
Beta-Thalassemia Intermedia |
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Pulmonary arterial hypertension, Hypothyroidism, Hypogonadism, Adrenal insufficiency, Hepatosplen... |
ORPHA:231222 |
Pseudo-Torch Syndrome 3 |
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Cardiomegaly, Hypertension, Cerebral hemorrhage |
OMIM:618886 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor |
OMIM:246450 |
Lethal Congenital Contracture Syndrome 10 |
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Cardiomegaly, Overriding aorta, Hypoplasia of the thymus, Ventricular septal defect |
OMIM:617022 |
Absence Of The Pulmonary Artery |
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Pulmonary arterial hypertension, Patent foramen ovale, Systolic heart murmur, Truncus arteriosus,... |
ORPHA:980 |
Pseudohypoaldosteronism, Type Iic |
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Decreased circulating renin level, Pseudohypoaldosteronism, Hypertension |
OMIM:614492 |
Beck-Fahrner Syndrome |
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Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
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Small pituitary gland, Delayed puberty, Hypogonadotropic hypogonadism, Central adrenal insufficiency |
OMIM:612079 |
Sandhoff Disease |
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Hyperhidrosis, Hypohidrosis, Hepatosplenomegaly, Hepatomegaly, Orthostatic hypotension, Cardiomegaly |
OMIM:268800 |
Congenital Isolated Acth Deficiency |
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Hypotension, Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropin defici... |
ORPHA:199296 |
Pseudohypoaldosteronism, Type Iie |
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Pseudohypoaldosteronism, Hypertension |
OMIM:614496 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
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Mitral valve prolapse, Mitral regurgitation, Dilated cardiomyopathy |
OMIM:607459 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
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Cardiomegaly, Congestive heart failure, Cardiomyopathy |
OMIM:619259 |
Achalasia-Addisonianism-Alacrima Syndrome |
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Decreased circulating aldosterone level, Adrenal insufficiency, Decreased circulating cortisol le... |
OMIM:231550 |
Immunodeficiency 87 And Autoimmunity |
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Pulmonary arterial hypertension, Atrioventricular canal defect, Third degree atrioventricular blo... |
OMIM:619573 |
Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Pulmonary arterial hypertension, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage,... |
ORPHA:79282 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Sweet Syndrome |
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Dilated cardiomyopathy, Small vessel vasculitis |
ORPHA:3243 |
Myopathy, Mitochondrial, And Ataxia |
|
Growth delay, Short stature, Pallor |
OMIM:617675 |
Hydrolethalus Syndrome 1 |
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Adrenal gland dysgenesis, Complete atrioventricular canal defect, Ventricular septal defect, Stil... |
OMIM:236680 |
Lethal Acantholytic Erosive Disorder |
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Cardiomegaly, Hypovolemic shock, Impaired myocardial contractility, Cardiomyopathy |
ORPHA:158687 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Hypertrophic cardiomyopathy, Cardiac conduction abnormality, Dilated cardiomyopathy, Hepatomegaly |
ORPHA:255210 |
American Trypanosomiasis |
|
Pallor |
ORPHA:3386 |
Liddle Syndrome 2 |
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Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level |
OMIM:618114 |
Familial Hypoaldosteronism |
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Hypotension, Hypovolemia, Decreased circulating aldosterone level, Adrenal insufficiency, Increas... |
ORPHA:427 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor |
ORPHA:263455 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor |
ORPHA:90033 |
Oculopharyngodistal Myopathy 1 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Paroxysmal atrial fibrillation |
OMIM:164310 |
Beckwith-Wiedemann Syndrome |
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Pancreatic hyperplasia, Adrenocortical carcinoma, Enlarged kidney, Hepatomegaly, Cryptorchidism, ... |
OMIM:130650 |
Hereditary Spherocytosis |
|
Skin ulcer, Growth delay, Pallor |
ORPHA:822 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Coronary artery stenosis, Pancreatitis, Angina pectoris, Abnormal cardiomyocyte morphology, Diabe... |
ORPHA:565612 |
Histiocytoid Cardiomyopathy |
|
Supraventricular tachycardia, Right bundle branch block, Ventricular septal defect, Wolff-Parkins... |
ORPHA:137675 |
Microphthalmia With Linear Skin Defects Syndrome |
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Abnormal cardiac septum morphology, Abnormal testis morphology, Mitral valve prolapse, Dilated ca... |
ORPHA:2556 |
Sickle Cell Disease |
|
Hypertension, Hepatomegaly, Cholelithiasis, Cardiomegaly, Splenomegaly |
OMIM:603903 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Growth delay, Pallor |
ORPHA:300298 |
Sheehan Syndrome |
|
Abnormal size of pituitary gland, Gonadotropin deficiency, Decreased serum estradiol, Decreased c... |
ORPHA:91355 |
Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy |
OMIM:226100 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right bundle branch block, Reduced left ventricular ejection fraction, Abnormal EKG, Cardiomegaly... |
ORPHA:268 |
Poems Syndrome |
|
Pulmonary arterial hypertension, Hypothyroidism, Increased circulating prolactin concentration, H... |
ORPHA:2905 |
Heart Block, Congenital |
|
Myocardial fibrosis, Myocardial calcification, Mitral regurgitation, Atrioventricular block, Abse... |
OMIM:234700 |
Cushing Disease |
|
Pituitary corticotropic cell adenoma, Increased circulating cortisol level, Capillary fragility, ... |
ORPHA:96253 |
Prolactinoma |
|
Hypotension, Female hypogonadism, Hypogonadism, Anterior hypopituitarism, Decreased circulating A... |
ORPHA:2965 |
Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
CantĂș Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology |
ORPHA:1517 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
1P36 Deletion Syndrome |
|
Hypothyroidism, Telangiectasia, Abnormal cardiac septum morphology, Hypogonadism, Annular pancrea... |
ORPHA:1606 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Patent foramen ovale, Hypothyroidism, Ventricular septal defect, Bicuspid aortic valve, Ebstein a... |
OMIM:607872 |
Leigh Syndrome With Nephrotic Syndrome |
|
Cardiomegaly |
ORPHA:255249 |
Glycogen Storage Disease Ii |
|
Right axis deviation, Sinus tachycardia, Wolff-Parkinson-White syndrome, Shortened PR interval, H... |
OMIM:232300 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal insufficiency, Hepatosplenomegaly, Adrenal calcification, Hepatomegaly, Portal hypertensi... |
OMIM:278000 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Hepa... |
ORPHA:96191 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pituitary corticotropic cell adenoma, Capillary fragility, Atypical pulmonary carcinoid tumor, Ad... |
ORPHA:99889 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Patent foramen ovale, Ventricular septal defect, Pineal cyst, Atrial septal defect, Left ventricu... |
OMIM:300967 |
Nephrotic Syndrome, Type 14 |
|
Adrenal insufficiency, Hypothyroidism, Hypogonadism, Cryptorchidism |
OMIM:617575 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hypotension, Adrenocorticotropic hormone excess, Hypovolemia, Decreased circulating aldosterone l... |
ORPHA:289548 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Heart block, Hepatomegaly, Arrhythmia, Cardiomegaly, Abnormal myocardium morphology, Cardiomyopathy |
ORPHA:228308 |
Carney Triad |
|
Hypertension, Pheochromocytoma, Arrhythmia, Gastrointestinal hemorrhage, Paraganglioma, Adrenal o... |
ORPHA:139411 |
Sepsis In Premature Infants |
|
Purpura, Petechiae, Pallor |
ORPHA:90051 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
Fumarase Deficiency |
|
Pallor |
OMIM:606812 |
Johanson-Blizzard Syndrome |
|