| Platelet Aggregation, Spontaneous |
|
Spontaneous platelet aggregation, Abnormal platelet function |
OMIM:173400 |
| Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
| Testicular Torsion |
|
Torsion of appendix of testis, Testicular torsion |
OMIM:187400 |
| Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
| Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
| Athrombia, Essential |
|
Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding time |
OMIM:209050 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... |
ORPHA:79506 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired ADP-induced platelet aggregation, Impaired collagen-ind... |
OMIM:619130 |
| Fish-Eye Disease |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Increased LDL cholesterol concent... |
OMIM:136120 |
| Platelet-Activating Factor Acetylhydrolase Deficiency |
|
Increased level of platelet-activating factor |
OMIM:614278 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:306000 |
| Hypobetalipoproteinemia, Familial, 2 |
|
Decreased LDL cholesterol concentration, Hypotriglyceridemia |
OMIM:605019 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:603813 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration |
OMIM:144300 |
| Glanzmann Thrombasthenia 2 |
|
Prolonged bleeding time, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced ... |
OMIM:619267 |
| Thrombocythemia 1 |
|
Impaired epinephrine-induced platelet aggregation, Thrombocytosis, Impaired ADP-induced platelet ... |
OMIM:187950 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Platelet Signal Processing Defect |
|
Impaired epinephrine-induced platelet aggregation, Thrombocytopenia, Impaired ADP-induced platele... |
OMIM:173590 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia |
OMIM:232700 |
| Bleeding Disorder, Platelet-Type, 18 |
|
Impaired platelet aggregation, Prolonged bleeding time |
OMIM:615888 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Palpitations, Myocardial fibrosis, Dyspnea, Ventricular tachycardia, Left ventricular hypertrophy... |
OMIM:613873 |
| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Cardiomyopathy, Familial Restrictive, 1 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hyper... |
OMIM:115210 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... |
OMIM:619271 |
| Cardiomyopathy, Dilated, 1R |
|
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... |
OMIM:613424 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... |
OMIM:601493 |
| Bronchopulmonary Dysplasia |
|
Wheezing, Right ventricular failure, Respiratory distress, Abnormal respiratory system physiology... |
ORPHA:70589 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
| Rowley-Rosenberg Syndrome |
|
Cor pulmonale, Hypertension, Atelectasis, Right ventricular hypertrophy, Recurrent pneumonia, Pul... |
OMIM:268500 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Palpitations, Exertional dyspnea, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac de... |
OMIM:608751 |
| Familial Dilated Cardiomyopathy |
|
Abnormal circulating creatine kinase concentration, Palpitations, Ventricular arrhythmia, Reduced... |
ORPHA:217607 |
| Glycogen Storage Disease 0, Muscle |
|
Left atrial enlargement, Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiom... |
OMIM:611556 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation |
OMIM:618462 |
| Cardiomyopathy, Familial Hypertrophic, 21 |
|
Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy |
OMIM:614676 |
| Cardiomyopathy, Familial Hypertrophic, 25 |
|
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
| Apolipoprotein C-Iii Deficiency |
|
Decreased LDL cholesterol concentration, Hypotriglyceridemia, Increased HDL cholesterol concentra... |
OMIM:614028 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Hyperalaninemia, Dyspnea, Hypertrophic cardiomyopathy |
OMIM:614582 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia |
OMIM:610947 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... |
OMIM:612158 |
| Pulmonary Hypertension, Primary, Autosomal Recessive |
|
Right ventricular failure, Exertional dyspnea, Angina pectoris, Right ventricular hypertrophy, Pu... |
OMIM:265400 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Abnormal platelet function |
ORPHA:231393 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia |
OMIM:619175 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Restrictive ventilatory defect, Muscular dystrophy, Flexion contracture, Pneumonia, Right ventric... |
OMIM:253700 |
| Cardiomyopathy, Dilated, 1Kk |
|
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Ventricular septal h... |
OMIM:615248 |
| Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Palpitations, Asymmetric septal hypertrophy, Dyspnea, T-wave inversion, Ventricular tachycardia, ... |
OMIM:608758 |
| Cardiomyopathy, Familial Hypertrophic, 18 |
|
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy |
OMIM:613874 |
| Von Willebrand Disease |
|
Abnormal thrombocyte morphology, Abnormal platelet function |
ORPHA:903 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypermethioninemia, Cardiomyopathy |
OMIM:613752 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Dyspnea, Respiratory distress, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Co... |
ORPHA:86812 |
| Cardiomyopathy, Familial Hypertrophic, 15 |
|
Endocardial fibrosis, Dyspnea, Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:613255 |
| Cardiomyopathy, Dilated, 1D |
|
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... |
OMIM:601494 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Flexion contracture, Limb-girdle mu... |
OMIM:608099 |
| Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Left Ventricular Noncompaction 1 |
|
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Sudden cardiac death, Con... |
OMIM:604169 |
| Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:144600 |
| Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| His Bundle Tachycardia |
|
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy |
ORPHA:3283 |
| Cardiomyopathy, Familial Hypertrophic, 20 |
|
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy |
OMIM:613876 |
| Chylomicron Retention Disease |
|
Hypotriglyceridemia, Steatorrhea, Hypocholesterolemia, Decreased LDL cholesterol concentration, H... |
OMIM:246700 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration |
OMIM:615238 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... |
OMIM:616516 |
| D-2-Hydroxyglutaric Aciduria 2 |
|
D-2-hydroxyglutaric acidemia, Cardiomyopathy |
OMIM:613657 |
| Von Willebrand Disease, X-Linked Form |
|
Prolonged bleeding time |
OMIM:314560 |
| Myopathy, Myofibrillar, 3 |
|
Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Elev... |
OMIM:609200 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypercholesterolemia, Hyperbilirubinemia, Hypermethioninemia, Hypertriglyceridemia, Decreased HDL... |
OMIM:605814 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Apnea, Ventricular hypertrophy, Hepatic steatosis, Elevated circulating alanine aminotransferase ... |
OMIM:619048 |
| Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
| Peripartum Cardiomyopathy |
|
Exertional dyspnea, Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardi... |
ORPHA:563 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Abnormal natural killer cell phys... |
OMIM:613101 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Hematuria, Abnormal circulating lipid concentration, Polycystic ovaries, Membranoproliferative gl... |
OMIM:608709 |
| Complete Atrioventricular Septal Defect |
|
Wheezing, Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly... |
ORPHA:1329 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Scapular winging, Arrhythmia, Flexion contracture, Respiratory insufficiency, Rimmed vacuoles, El... |
OMIM:300696 |
| Cardiomyopathy, familial hypertrophic, 19 |
|
Asymmetric septal hypertrophy |
OMIM:613875 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Arrhythmia, Hypertrophic cardiomyopathy |
OMIM:612098 |
| Hyperlipidemia, Familial Combined, 3 |
|
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... |
OMIM:144250 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy |
OMIM:616500 |
| Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
| Cardiomyopathy, Familial Hypertrophic, 2 |
|
Hypertrophic cardiomyopathy |
OMIM:115195 |
| Cardiomyopathy, Familial Hypertrophic, 3 |
|
Hypertrophic cardiomyopathy |
OMIM:115196 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Hypertrophic cardiomyopathy |
OMIM:613251 |
| Glanzmann Thrombasthenia 1 |
|
Impaired platelet aggregation, Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction... |
OMIM:273800 |
| Morbid Obesity And Spermatogenic Failure |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HD... |
OMIM:615703 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Cardiomyopathy |
OMIM:612422 |
| Retinoschisis, Autosomal Dominant |
|
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation |
OMIM:180270 |
| Ataxia With Vitamin 3 Deficiency |
|
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration |
OMIM:277460 |
| Cog7-Cdg |
|
Hypertrophic cardiomyopathy |
ORPHA:79333 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Palpitations, Dyspnea, Elevated pulmonary artery pressure, Increased pulmonary vascular resistanc... |
ORPHA:275766 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Hyperalaninemia, Hypertrophic cardiomyopathy, Abnormal heart morphology |
OMIM:618250 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Severely reduced ejection fraction, Wolff-Parkinson-White syndrome, Congestive heart failure, Rig... |
ORPHA:444013 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... |
OMIM:613838 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Left ventricular systolic dysfuncti... |
ORPHA:353 |
| Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Intrinsic hand muscle atrophy, Hip flexor weakness, Proximal muscle weakness in lower limbs, Dist... |
ORPHA:63273 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Arrhythmia, Proximal amyotrophy, Muscular dystrophy, Respiratory insufficiency, Elevated circulat... |
OMIM:612999 |
| Myopathy, Distal, 4 |
|
Mildly elevated creatine kinase, Distal lower limb amyotrophy, Skeletal muscle atrophy, Myopathy,... |
OMIM:614065 |
| Familial Hyperaldosteronism Type I |
|
Intracranial hemorrhage, Secretory adrenocortical adenoma, Nausea, Epistaxis, Hypertension, Abnor... |
ORPHA:403 |
| Familial Hyperaldosteronism Type Ii |
|
Intracranial hemorrhage, Secretory adrenocortical adenoma, Nausea, Epistaxis, Hypertension, Gluco... |
ORPHA:404 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
| Stargardt Disease 1 |
|
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa |
OMIM:248200 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Skin rash, Acute kidney injury, Elevated circulating creatinine concentration, Synovitis, Hyperte... |
ORPHA:567544 |
| Pulmonary Hypertension, Primary, 1 |
|
Right ventricular failure, Dyspnea, Increased pulmonary vascular resistance, Hypertension, Right ... |
OMIM:178600 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Pulmonary hemorrhage, Restrictive ventilatory defect, Dyspnea, Cough, Decreased DLCO, Elevated ci... |
OMIM:616414 |
| Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Respiratory insufficiency, Supraventricular tachycardia, Elevated circulating creatine kinase con... |
OMIM:255100 |
| Classic Multiminicore Myopathy |
|
Restrictive ventilatory defect, Right ventricular failure, Increased muscle lipid content, Congen... |
ORPHA:324604 |
| Atrial Fibrillation, Familial, 10 |
|
Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgit... |
OMIM:614022 |
| Frasier Syndrome |
|
Increased circulating gonadotropin level, Ambiguous genitalia, male, Focal segmental glomeruloscl... |
ORPHA:347 |
| Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia |
OMIM:614480 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Elevated circulating creatinine concentration, Flexion contracture, Postnat... |
OMIM:616733 |
| Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia, Prolonged bleeding time |
OMIM:173420 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Hyperalaninemia, Bradycardia, Left ventricular hypertrophy, Respiratory insufficiency |
OMIM:614654 |
| Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Elevated circulating creatine kinase concentration, Myopathy, Autophagic vacuoles, Hypertrophic c... |
OMIM:609500 |
| Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
| Familial Hyperaldosteronism Type Iii |
|
Intracranial hemorrhage, Nausea, Epistaxis, Hypertension, Glucocortocoid-insensitive primary hype... |
ORPHA:251274 |
| Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Prolonged prothrombin time, Splenic rupture, Internal hemorrhage, Hemorrhagic ... |
ORPHA:335 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Platelet... |
OMIM:187800 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Interstitial pneumonitis, Neonatal respiratory distress, Chronic lung disease, Right ventricular ... |
ORPHA:217563 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
| Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Respiratory distress, Recurrent otitis media, External genital hypoplasia, Renal ... |
OMIM:615993 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia |
OMIM:608898 |
| Niemann-Pick Disease, Type B |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... |
OMIM:607616 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Infertility, Hyperinsulinemia, Oligomenorrhea, Hepatic steatosis, Hypertension, Polycystic ovarie... |
ORPHA:280356 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Ventricular arrhythmia, Palpitations, Dyspnea, Sudden cardiac death, Right ventricular cardiomyop... |
OMIM:610476 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiomegaly, Left ventricular hypertrophy, Elevated circulating creatine kinase co... |
OMIM:617713 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Type 1 fibers relatively ... |
OMIM:300580 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Peritonitis, Hypercholesterolemia, Acute kidney injury, Focal segmental glomerulosclerosis, Growt... |
ORPHA:567548 |
| Gne Myopathy |
|
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Mildly elevated c... |
ORPHA:602 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia |
OMIM:613877 |
| Myofibrillar Myopathy 10 |
|
EMG: myopathic abnormalities, Flexion contracture of finger, Increased QRS voltage, Left ventricu... |
OMIM:619040 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Cryptorchidism, Macroglossia, Left ventricular systolic dysfunction, Congenital muscular dystroph... |
OMIM:613156 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Hypertrophic cardiomyopathy |
ORPHA:79281 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased LDL cholesterol concentration, Hypocholesterolemia |
OMIM:616834 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Ventr... |
OMIM:616730 |
| Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Dilated cardiomyopathy, Cardiorespiratory arrest, Hypertrophic cardiomyopathy |
ORPHA:34587 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... |
ORPHA:90793 |
| Distal Nebulin Myopathy |
|
EMG: myopathic abnormalities, Exertional dyspnea, Cardiomyopathy, Weakness of the intrinsic hand ... |
ORPHA:399103 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Hyperalaninemia, Left ventricular hypertrophy |
OMIM:616974 |
| Hyperaldosteronism, Familial, Type I |
|
Hypertension, Hyperaldosteronism, Decreased circulating renin level, Adrenal hyperplasia, Adrenog... |
OMIM:103900 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Abnormal bleeding, Atrial septal defect, Arthrogryposis multiplex congenita, Elevated hepatic tra... |
OMIM:208085 |
| Nemaline Myopathy 11, Autosomal Recessive |
|
Scapular winging, Nemaline bodies, Facial palsy, Reduced vital capacity, Cardiomyopathy |
OMIM:617336 |
| Congenital Tricuspid Valve Dysplasia |
|
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... |
ORPHA:555874 |
| Aapoaiv Amyloidosis |
|
Cardiac amyloidosis, Cardiac conduction abnormality, Atrial flutter, Glomerular sclerosis, Elevat... |
ORPHA:439232 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Arthrogryposis multiplex congenita, Nephrogenic diabetes insipidus, Elevated hepatic transaminase... |
OMIM:613404 |
| Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
| Lysosomal Acid Lipase Deficiency |
|
Hypercholesterolemia, Vacuolated lymphocytes, Death in infancy, Diarrhea, Leukopenia, Anemia, Hyp... |
OMIM:278000 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia |
ORPHA:436182 |
| Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Muscular dystrophy, Calf muscle pseudohypertrophy, Elevated circulating... |
OMIM:300376 |
| Congenital Aortic Valve Stenosis |
|
Aortic valve atresia, Reduced ejection fraction, Endocarditis, Abnormal pulse pressure, Exertiona... |
ORPHA:3093 |
| Endocardial Fibroelastosis |
|
Endocardial fibroelastosis, Congestive heart failure, Cardiomyopathy |
OMIM:226000 |
| Nephrotic Syndrome, Type 14 |
|
Cryptorchidism, Focal segmental glomerulosclerosis, Hypothyroidism, Lymphopenia, Hypertriglycerid... |
OMIM:617575 |
| Focal Segmental Glomerulosclerosis 1 |
|
Focal segmental glomerulosclerosis, Hypertension, Hypoalbuminemia, Stage 5 chronic kidney disease... |
OMIM:603278 |
| Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia, IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Ventr... |
OMIM:618348 |
| Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Apnea, Respiratory insufficiency, Hypertrophic cardiomyopathy |
OMIM:618222 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hypothyroidism, Growth delay, Glomerular sclerosis, Gastroesophageal reflux, Ren... |
OMIM:256300 |
| Hemochromatosis, Type 2A |
|
Increased circulating ferritin concentration, Infertility, Arrhythmia, Azoospermia, Dilated cardi... |
OMIM:602390 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Hypergonadotropic hypogonadism, Glomerular sclerosis, Elevated circulating creatine kinase concen... |
OMIM:607426 |
| Nephrotic Syndrome, Type 23 |
|
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... |
OMIM:619201 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased level of methylsuccinic acid in urine, Respiratory distress, Hepatic steatosis, Elevate... |
ORPHA:26792 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Decreased circulating ACTH level, Increased circulating cortisol level, Primary hypercortisolism,... |
OMIM:219080 |
| Immunodeficiency, Common Variable, 6 |
|
Autoimmune thrombocytopenia, Enlarged kidney, Purpura, Nephrotic range proteinuria, Mesangial Imm... |
OMIM:613496 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Primary hypercortisolism, Hypertension, Increased body weig... |
OMIM:615830 |
| Pituitary Adenoma 1, Multiple Types |
|
Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Prolactinoma... |
OMIM:102200 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Macroglossia, Facial hypotonia, Respiratory distress, Respiratory failure requiring assisted vent... |
ORPHA:308552 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Intracranial hemorrhage, Nausea, Epistaxis, Hyperaldosteronism, Hypertension, Abnormal circulatin... |
ORPHA:369929 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Delayed puberty, Diarrhea, Ventricular septal hypertrophy, Skeletal muscle ... |
ORPHA:370 |
| Atrial Septal Defect, Ostium Primum Type |
|
Exertional dyspnea, Atrial flutter, Decreased pulmonary function, Tricuspid regurgitation, Right ... |
ORPHA:99106 |
| Cardiomyopathy, Dilated, 1M |
|
Dilated cardiomyopathy, Endocardial fibroelastosis, Impaired myocardial contractility |
OMIM:607482 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Ambiguous genitalia, f... |
ORPHA:90791 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Shoulder girdle muscle atrophy, Scapular winging, Dilated cardiomyopathy, Proximal amyotrophy, Mu... |
OMIM:604286 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... |
OMIM:312700 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Acute kidney injury, Thrombocytopenia, Glomerulonephritis, Hemolytic-uremic syn... |
OMIM:615008 |
| Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Apnea, Hypertrophic cardiomyopathy |
OMIM:618235 |
| Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation |
OMIM:614009 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Arrhythmia, Ragged-red muscle fibers, Wolff-Parkinson-White syndrome, Abnormal left ventricular f... |
OMIM:540000 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Increased muscle lipid content, Hepatic steatosis, Hepatomegaly, H... |
OMIM:610717 |
| Cushing Disease |
|
Infertility, Hypertension, Telangiectasia of the skin, Truncal obesity, Hypokalemia, Metrorrhagia... |
ORPHA:96253 |
| Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Hypercholesterolemia, Decreased circulating apol... |
OMIM:207750 |
| Perching Syndrome |
|
Camptodactyly, Flexion contracture, Respiratory distress |
OMIM:617055 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Global systolic dysfunction, Dyspnea, Respiratory insufficiency, Nemaline bodies, Limb muscle wea... |
OMIM:606842 |
| Antithrombin Iii Deficiency |
|
Pulmonary embolism, Arterial occlusion |
OMIM:613118 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Decreased plasma carnitine, Increased muscle glycogen content, Macroglossia, Respiratory distress... |
ORPHA:254864 |
| Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Left ventricular hypertrophy |
OMIM:614458 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Scapular winging, Restricted neck movement due to contractures, Peroneal muscle atrophy, Dilated ... |
OMIM:181350 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Myopathy, Low-output congestive heart failure, Respiratory distress, Hypertrophic cardiomyopathy |
ORPHA:91130 |
| Cardiomyopathy, Dilated, 2C |
|
Dilated cardiomyopathy, Reduced ejection fraction, Pulmonary arterial hypertension |
OMIM:618189 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
| Cardiac Lipidosis, Familial |
|
Congestive heart failure, Cardiomyopathy |
OMIM:212080 |
| Focal Segmental Glomerulosclerosis 2 |
|
Focal segmental glomerulosclerosis, Hypertension, Chronic kidney disease, Stage 5 chronic kidney ... |
OMIM:603965 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hypoalbuminemia, Hyperlipidemia |
OMIM:615863 |
| Immunodeficiency 48 |
|
Panhypogammaglobulinemia, Pneumonia, Hepatomegaly, Diarrhea, Failure to thrive, Splenomegaly |
OMIM:269840 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Eosinophilic liver infiltration, Hepatic cysts, Hypothyroidism, Membranous nep... |
OMIM:618999 |
| Cardiomyopathy, Familial Hypertrophic, 28 |
|
Asymmetric septal hypertrophy, Reduced ejection fraction, Atrial fibrillation, Concentric hypertr... |
OMIM:619402 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
| Bacterial Toxic-Shock Syndrome |
|
Peritonitis, Hypocalcemia, Skin rash, Elevated circulating creatinine concentration, Recurrent ur... |
ORPHA:36234 |
| Hereditary Myopathy With Early Respiratory Failure |
|
EMG: myopathic abnormalities, Restrictive ventilatory defect, Dyspnea, Internally nucleated skele... |
ORPHA:178464 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Podocyte foot process effacement, Increased CD4:CD8 ratio, Impaired lymphocyte transformation wit... |
OMIM:617006 |
| Cystic Echinococcosis |
|
Ovarian cyst, Peritoneal abscess, Elevated hepatic transaminase, Abnormal heart morphology, Hepat... |
ORPHA:400 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Increased serum pyruvate, Respiratory insufficiency, Skeletal muscle atroph... |
ORPHA:238329 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Pulmonary arterial hypertension, Hypertension, Biventricular hypertrop... |
OMIM:615474 |
| Schimke Immuno-Osseous Dysplasia |
|
Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8 T cells, Neutropenia,... |
ORPHA:1830 |
| Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Podocyte foot process effacement, Steroid-resistant nephrotic s... |
OMIM:619263 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Compensated hypothyroidism, Skin rash, Abnormality of the hepatic vasculature, Punctate vasculiti... |
ORPHA:247691 |
| Myopathy, Myofibrillar, 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Respiratory insufficiency due to muscle weaknes... |
OMIM:608810 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Abnormal circulating creatine kinase concentration, EMG: myopathic abnormalities, Facial diplegia... |
ORPHA:399058 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia |
OMIM:615924 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Flexion contracture, Cough, Hepatomegaly, ... |
ORPHA:77260 |
| Alport Syndrome |
|
Hematuria, Cough, IgA deposition in the glomerulus, Vomiting, Clitoral hypertrophy, Renal insuffi... |
ORPHA:63 |
| Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome |
ORPHA:69063 |
| Myopathy, Myofibrillar, 6 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Respiratory insufficiency, Generalized amyotrop... |
OMIM:612954 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... |
OMIM:615954 |
| Heparin-Induced Thrombocytopenia |
|
Autoimmune thrombocytopenia, Increased inflammatory response, Increased serum serotonin, Myocardi... |
ORPHA:3325 |
| Primary Unilateral Adrenal Hyperplasia |
|
Palpitations, Nausea, Epistaxis, Hypertension, Glucocortocoid-insensitive primary hyperaldosteron... |
ORPHA:231580 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Increased circulating cortisol level, Abnormal calcium-phosphate regulating hormone level, Primar... |
ORPHA:3453 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Arthrogryposis multiplex congenita, Sudden episodic apnea, Respiratory distress, Respiratory insu... |
OMIM:254210 |
| Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment, Retinal fold |
OMIM:605750 |
| Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Secretory diarrhea, Pancytopenia, Thrombocytopenia,... |
OMIM:616050 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Hyponatremia, Pneumonia, Hyperactive renin-angiotensin syst... |
ORPHA:90790 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 4 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... |
OMIM:602087 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Atrial fibrillation, Sick sinus syndrome, Ventricular fibrillation, Left ve... |
OMIM:163800 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis, Elevated hepatic transaminase, Prolonged prothrombin time, Hypergonadotropic hypo... |
OMIM:212065 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis, Pneumonia, Glomerulonephritis |
OMIM:247800 |
| Autoimmune Hepatitis |
|
Acute hepatitis, Increased total bilirubin, Cirrhosis, Spider hemangioma, Inflammation of the lar... |
ORPHA:2137 |
| Combined Oxidative Phosphorylation Deficiency 44 |
|
Hypertrophic cardiomyopathy |
OMIM:618855 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Menometrorrhagia, Macronodular adrenal hyperplasia, Hypertension, Truncal obesity, Failure to thr... |
ORPHA:189427 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Distal Myotilinopathy |
|
EMG: myopathic abnormalities, Abnormal muscle fiber myotilin, Multiple joint contractures, Distal... |
ORPHA:98911 |
| Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... |
OMIM:600995 |
| Muscular Dystrophy, Cardiac Type |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy, Abnormal EKG, Cardiomyopathy |
OMIM:309930 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Hy... |
OMIM:603552 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Increased circulating antibody level, Hepatomegaly, Diarrhea, Failur... |
OMIM:618495 |
| Agenesis Of The Corpus Callosum And Congenital Lymphedema |
|
Pulmonary arterial hypertension, Right ventricular hypertrophy, Hypertension |
OMIM:613623 |
| Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Necrotizing myopathy, Cardiomyopathy |
OMIM:225740 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Lacticaciduria, Hyperglycinemia, Hepatic steatosis, Elevated circulating alanine aminotransferase... |
OMIM:619386 |
| Myopathy, Myosin Storage, Autosomal Recessive |
|
EMG: myopathic abnormalities, Dilated cardiomyopathy, Centrally nucleated skeletal muscle fibers,... |
OMIM:255160 |
| Nephrotic Syndrome, Type 10 |
|
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon... |
OMIM:615861 |
| Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
| Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... |
OMIM:256020 |
| Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Hepatomegaly, Cong... |
OMIM:613313 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Hypertrophic cardiomyopathy |
OMIM:604377 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Muscular dystrophy, Flexion contracture, Elevated circulating creatine kinase concentration, Limb... |
OMIM:609308 |
| Nephrotic Syndrome, Type 17 |
|
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ... |
OMIM:618176 |
| Cardiomyopathy, Familial Hypertrophic, 7 |
|
Ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy |
OMIM:613690 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Elevated circulating creatine kinase concentration, Muscular dystrophy, Left ventricular hypertro... |
OMIM:613153 |
| C3 Glomerulopathy |
|
Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, Hypertension, Memb... |
ORPHA:329918 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Atrial fibrillation, Prolonged PR inter... |
OMIM:108900 |
| Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Hypertension, Microscopic hematuria, Stage 5 chronic kidney d... |
OMIM:613237 |
| Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Adrenal hyperplasia, Increased circulating cortisol level |
OMIM:614190 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Cryptorchidism, Rhizomelia, Camptodactyly, Postnatal growth retardation, Thrombocytopenia, Hydron... |
OMIM:611209 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
| Synaptic Congenital Myasthenic Syndromes |
|
Hand muscle weakness, Scapular winging, Sleep apnea, Respiratory distress, Exertional dyspnea, Hy... |
ORPHA:98915 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Slender build, Hypertension, Diabetes mellitus, Hypogonadism, Adrenal hyperplasia, Pigmented micr... |
ORPHA:189439 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Intrauterine growth ret... |
OMIM:301006 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty... |
OMIM:605809 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Cor pulmonale, Cough, Respiratory failure, Tachypnea |
OMIM:263000 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requiring assist... |
ORPHA:264675 |
| +173470 integrin, beta-3 |
|
Impaired platelet aggregation, Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thro... |
OMIM:173470 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Hypertension, Renal insufficiency, Proteinuria |
OMIM:607832 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Decreased plasma carnitine, Dilated cardiomyopathy |
OMIM:611283 |
| Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Cirrhosis, Macroglossia, Hyperinsulinemia, Amenorrhea, Oligomenorrhea, Hepa... |
ORPHA:528 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Delayed puberty, Diarrhea, Anemia, Skeletal muscle atrophy, Increased sarco... |
ORPHA:264580 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Camptodactyly of finger, Restrictive ventilatory defect, Respiratory distress, Respiratory insuff... |
OMIM:614399 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 3 |
|
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... |
OMIM:602086 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Macrovesicular hepatic steatosis, Neutropenia, Hypoalbuminemia, Anemia, Leukopenia, Macroglossia,... |
OMIM:617303 |
| Pituitary Gigantism |
|
Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Elevated cir... |
ORPHA:99725 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:612526 |
| Congenital Pulmonary Lymphangiectasia |
|
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Tricuspid regurgita... |
ORPHA:2414 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Focal segmental glomerulosclerosis, Dysphagia, Nephropathy, Glomerulopathy, Thrombocytopenia, Nep... |
OMIM:254900 |
| Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Decreased LDL cholesterol concentration, Hypocholesterolemia |
OMIM:256840 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia, Ischemic stroke, ST segment depression, Hypertension, Myocardial infarction... |
ORPHA:90065 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Cirrhosis, Giant cell hepatitis, Intrahepatic cholestasis, Hyperbilirubinemia, Steatorrhea, Hypoc... |
OMIM:607765 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Marked muscular hypertrophy, Hyperuricemia, Secondary amenorrhea, Cirrhosis, Maternal diabetes, P... |
ORPHA:79083 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Respiratory insufficiency, Elevated ... |
OMIM:615352 |
| Alstrom Syndrome |
|
Hyperuricemia, Renal insufficiency, Otitis media, Hypergonadotropic hypogonadism, Tubulointerstit... |
OMIM:203800 |
| Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Bronchiectasi... |
OMIM:617514 |
| Noonan Syndrome 8 |
|
Cryptorchidism, Atrial septal defect, Ventricular septal defect, Pleural effusion, Pulmonic steno... |
OMIM:615355 |
| Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Respirator... |
ORPHA:470 |
| Adams-Oliver Syndrome 5 |
|
Pulmonary arterial hypertension, Umbilical hernia, Pulmonic stenosis, Right atrial enlargement, R... |
OMIM:616028 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Hyp... |
OMIM:614131 |
| Pleural Mesothelioma |
|
Dyspnea, Respiratory distress, Abnormal respiratory system physiology, Pleural effusion, Cough, A... |
ORPHA:50251 |
| Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Hypertension, Abnormality of circulating cortisol level, Hypokalemia, Decrea... |
ORPHA:320 |
| Tangier Disease |
|
Facial diplegia, Hepatomegaly, Myocardial infarction, Distal amyotrophy, Left ventricular hypertr... |
OMIM:205400 |
| Fabry Disease |
|
Conjunctival telangiectasia, Hematuria, Abnormal endocardium morphology, Abnormal circulating lip... |
ORPHA:324 |
| Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Wrist drop, Intrinsic hand muscle atrophy, Leg muscle stiffness, Weakness of the intrinsic hand m... |
ORPHA:98912 |
| Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Primary amenorrhea, Gonadal dysgenesis, Stage 5 chronic kidne... |
OMIM:136680 |
| Fabry Disease |
|
Arrhythmia, Proteinuria, Angina pectoris, Urinary mulberry cells, Nausea, Hypertension, Myocardia... |
OMIM:301500 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypocalcemia, Arrhythmia, Chronic hepatic failure, Lower limb muscle weakness, Tricuspid regurgit... |
ORPHA:746 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... |
OMIM:615285 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Dyspnea, Right bundle branch block, ST segment depression, Atrial fibrillation, Biventricular hyp... |
OMIM:613243 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Dysmenorrhea, Hepatic steatosis, Skeletal muscle hypertrophy, Polycystic ovaries, Hepatomegaly, H... |
ORPHA:2348 |
| Complement Component 4A Deficiency |
|
Glomerulonephritis, Vasculitis, Purpura |
OMIM:614380 |
| Squalene Synthase Deficiency |
|
Elevated circulating methylsuccinic acid concentration, Constipation, Bilateral cryptorchidism, H... |
OMIM:618156 |
| Cardiomyopathy Associated With Myopathy And Sudden Death |
|
Asymmetric septal hypertrophy, Myopathy |
OMIM:212130 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Foot dorsiflexor weakness, Focal segmental glomerulosclerosis, Distal lower limb amyotrophy, Stag... |
OMIM:614455 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Neutropenia, Nephropathy, Hyperuricemia, Gout, Renal cyst, Ch... |
OMIM:617056 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... |
OMIM:619375 |
| Epilepsy, Pyridoxine-Dependent |
|
Neonatal respiratory distress, Respiratory distress |
OMIM:266100 |
| Tracheopathia Osteoplastica |
|
Cough, Wheezing, Dyspnea, Recurrent pneumonia |
OMIM:189961 |
| Bardet-Biedl Syndrome 1 |
|
Abnormality of the ovary, Nephrogenic diabetes insipidus, Biliary tract abnormality, Hypertension... |
OMIM:209900 |
| Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
IgA deposition in the glomerulus, Nephropathy, Focal segmental glomerulosclerosis |
OMIM:182690 |
| X-Linked Retinal Dysplasia |
|
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology |
ORPHA:1852 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Palpitations, Elevated urinary dopamine, Hematuria, Extraadrenal pheochromocytoma, Hypertension a... |
ORPHA:276621 |
| Apolipoprotein A-I Deficiency |
|
Anemia, Splenomegaly, Decreased HDL cholesterol concentration, Abnormality of the liver, Lymphade... |
ORPHA:425 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Hepatic steatosis, Hypertension, Polycystic ovaries, Hepatomegaly, Pancreatitis... |
ORPHA:79084 |
| Hyperaldosteronism, Familial, Type Iii |
|
Hypertension, Hyperaldosteronism, Decreased circulating renin level, Hypokalemia, Adrenal hyperpl... |
OMIM:613677 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypocalcemia, Decreased prealbumin level, Interstitial pneumonitis, Eczematoid dermatitis, Thyroi... |
ORPHA:37042 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Distal amyotrophy, Respiratory distress |
OMIM:619099 |
| Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... |
ORPHA:179 |
| Melas |
|
Cardiac conduction abnormality, Abnormal mitochondria in muscle tissue, Diarrhea, Anemia, Type II... |
ORPHA:550 |
| Left Ventricular Noncompaction 8 |
|
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... |
OMIM:615373 |
| Tyrosinemia, Type I |
|
Glomerular sclerosis, Renal insufficiency, Paralytic ileus, Cirrhosis, Enlarged kidney, Hypertyro... |
OMIM:276700 |
| Focal Segmental Glomerulosclerosis 7 |
|
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... |
OMIM:616002 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Hydrocele testis, Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, ... |
ORPHA:49041 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Proportionate short stature, Abnormal left ventricular function, Lo... |
ORPHA:3208 |
| Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhythmia, Leg muscle stiffness |
ORPHA:320360 |
| Peroxisome Biogenesis Disorder 3B |
|
Steatorrhea, Hypocholesterolemia |
OMIM:266510 |
| Idiopathic Neonatal Atrial Flutter |
|
Reduced ejection fraction, Arrhythmia, Respiratory distress, Paroxysmal supraventricular tachycar... |
ORPHA:45452 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Abnormal heart morphology, Mildly elevated creatine kinase, Flexion contrac... |
ORPHA:1143 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Hypertrophic cardiomyopathy |
OMIM:615395 |
| Glycogen Storage Disease Ia |
|
Abnormal bleeding, Xanthelasma, Decreased muscle mass, Elevated hepatic transaminase, Focal segme... |
OMIM:232200 |
| Meckel Syndrome, Type 7 |
|
Atrial septal defect, Situs inversus totalis, Pancreatic cysts, Biliary cirrhosis, Multicystic ki... |
OMIM:267010 |
| Nephrotic Syndrome, Type 18 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:618177 |
| Autosomal Recessive Centronuclear Myopathy |
|
Scapular winging, Abnormal heart valve morphology, Centrally nucleated skeletal muscle fibers, Re... |
ORPHA:169186 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomeruloneph... |
OMIM:617609 |
| Hyperlipoproteinemia, Type Id |
|
Colitis, Hepatomegaly, Failure to thrive, Splenomegaly, Hyperlipoproteinemia |
OMIM:615947 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I |
ORPHA:488191 |
| Focal Segmental Glomerulosclerosis 8 |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis |
OMIM:616032 |
| Nephrotic Syndrome, Type 20 |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis |
OMIM:301028 |
| Nephrotic Syndrome, Type 19 |
|
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... |
OMIM:618178 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Reduced ejection fraction, Scapular winging, Muscular edema, Lower limb muscle weakness, Proximal... |
ORPHA:268 |
| Congenital Laryngeal Web |
|
Abnormal cardiac septum morphology, Stridor, Respiratory distress |
ORPHA:2374 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Membranoproliferative glomerulonephritis, Renal insufficiency, Nephrotic syndrome |
OMIM:613779 |
| 3-Methylglutaconic Aciduria, Type V |
|
Cryptorchidism, Noncompaction cardiomyopathy, Microvesicular hepatic steatosis, Glutaric aciduria... |
OMIM:610198 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hydrocele testis, Hypocholesterolemia, Hepatomegaly, Neonatal death, Micropenis, Hypertrophic car... |
OMIM:618810 |
| Nephrotic Syndrome, Type 13 |
|
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal segmental glomerulosc... |
OMIM:616893 |
| Tubulointerstitial Nephritis With Uveitis |
|
Panuveitis, Elevated circulating creatinine concentration, Reversible renal failure, Uveitis, Acu... |
OMIM:607665 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomyopathy |
OMIM:609016 |
| Immunodeficiency 27A |
|
