Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
Mahvash Disease |
|
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... |
OMIM:619290 |
Lipase Deficiency, Combined |
|
Type II diabetes mellitus, Pancreatitis |
OMIM:246650 |
Autoimmune Disease |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:109100 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Pemphigus Vulgaris, Familial |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:169610 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea... |
ORPHA:79084 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... |
OMIM:618654 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Congenital Pancreatic Cyst |
|
Jaundice, Pancreatitis |
ORPHA:313906 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
Poems Syndrome |
|
Diabetes mellitus, Pericardial effusion, Hypothyroidism, Abnormality of the endocrine system, Pri... |
ORPHA:2905 |
Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... |
OMIM:608099 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... |
OMIM:608189 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Systemic Lupus Erythematosus 16 |
|
Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib... |
OMIM:614420 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... |
OMIM:611783 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... |
OMIM:617907 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... |
OMIM:263400 |
Cardiomyopathy, Dilated, 1X |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,... |
OMIM:611615 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, E... |
OMIM:300696 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... |
OMIM:620386 |
Immunoglobulin A Deficiency 2 |
|
Autoimmunity, Decreased circulating IgA level |
OMIM:609529 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Abnormal macrophage morphology, Calf muscle pseudohypertrophy, Achilles tendon ... |
ORPHA:353 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Pancreatitis, Hereditary |
|
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... |
OMIM:167800 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... |
OMIM:302045 |
Primary Familial Polycythemia |
|
Epistaxis, Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... |
OMIM:618655 |
Von Hippel-Lindau Disease |
|
Pancreatic islet cell adenoma, Myocardial infarction, Myocarditis, Pancreatic endocrine tumor, Ad... |
ORPHA:892 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var... |
OMIM:614096 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Hashimoto Thyroiditis |
|
Autoimmune antibody positivity, Hashimoto thyroiditis |
OMIM:140300 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Dilat... |
OMIM:611705 |
Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... |
ORPHA:178464 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,... |
OMIM:619566 |
Tempi Syndrome |
|
Telangiectasia, Intracranial hemorrhage, Increased circulating IgG level, Increased hematocrit, P... |
ORPHA:284227 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... |
ORPHA:85451 |
Hereditary Chronic Pancreatitis |
|
Jaundice, Diabetes mellitus, Recurrent pancreatitis, Pancreatic calcification |
ORPHA:676 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... |
ORPHA:75566 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septal defect, Hyp... |
OMIM:620135 |
Adult-Onset Nemaline Myopathy |
|
Dilated cardiomyopathy, Flexion contracture, Increased muscle lipid content, Paraproteinemia, Upp... |
ORPHA:171442 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608600 |
Chylous Ascites |
|
Pancreatitis |
ORPHA:1160 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Pancreatitis |
OMIM:620137 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice |
OMIM:243300 |
Macrophage Activation Syndrome |
|
Increased circulating interleukin 6 concentration, Autoimmunity, Elevated circulating C-reactive ... |
ORPHA:158061 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Gallbladder Disease 1 |
|
Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic fibrosis, Cholecystitis, Bile du... |
OMIM:600803 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter, Musc... |
OMIM:300718 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... |
OMIM:608807 |
Ogden Syndrome |
|
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Ventricula... |
OMIM:300855 |
Immunoglobulin A Deficiency 1 |
|
Autoimmunity, Decreased circulating IgA level |
OMIM:137100 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased variability in... |
ORPHA:86812 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy... |
OMIM:612999 |
Low Phospholipid-Associated Cholelithiasis |
|
Liver abscess, Diabetes mellitus, Cholangitis, Intrahepatic cholestasis, Biliary cirrhosis, Neopl... |
ORPHA:69663 |
Livedoid Vasculopathy |
|
Pancytopenia, Diabetes mellitus, Telangiectasia of the skin, Leukocytosis, Hypertension, Ischemic... |
ORPHA:542643 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Right ventricular dilatation, Abnor... |
ORPHA:2041 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest... |
OMIM:607685 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle... |
OMIM:612937 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus, Gout |
OMIM:610947 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cardiac shunt, Maternal diabetes, Cardiomegaly, Dextrotransposition of the great arteries, Abnorm... |
ORPHA:860 |
Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Polycythemia |
OMIM:613280 |
Insulin Autoimmune Syndrome |
|
Autoimmune antibody positivity, Increased circulating antibody level, Autoimmunity, Systemic lupu... |
ORPHA:411593 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Hepatic steatosis, Pancreatitis, Adrenal insufficiency |
OMIM:619386 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di... |
OMIM:253700 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
C1Q Deficiency 1 |
|
Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
Fumarase Deficiency |
|
Perimembranous ventricular septal defect, Polycythemia, Polymicrogyria, Lissencephaly |
OMIM:606812 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Impotence, Arrhythmia |
ORPHA:85447 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hypertrophic cardiomyopathy, Polycythemia, Hypom... |
ORPHA:309854 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe... |
OMIM:300580 |
Benign Recurrent Intrahepatic Cholestasis |
|
Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carcinoma, Choleli... |
ORPHA:65682 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Conge... |
OMIM:235200 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc... |
ORPHA:266 |
Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... |
OMIM:618848 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Calf muscle pseudohypertrophy, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, ... |
ORPHA:79083 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Congestive heart failure, Cardiomegaly |
OMIM:300886 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Diastasis recti, Congenital diaphragmatic hernia, Cardio... |
ORPHA:116 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter, Cryptorchidism |
OMIM:616816 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Pancreatitis |
OMIM:618230 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Abcd Syndrome |
|
Polycythemia |
OMIM:600501 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... |
OMIM:601954 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:619733 |
Childhood-Onset Nemaline Myopathy |
|
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... |
ORPHA:171439 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Vacuolated lymphocytes |
OMIM:269920 |
Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
ORPHA:178320 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Thrombocytopenia, Anemia, Cardiomegaly |
ORPHA:858 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu... |
OMIM:619042 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal mast... |
ORPHA:98848 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... |
ORPHA:488650 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ... |
ORPHA:98850 |
Myopathy, Distal, Tateyama Type |
|
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... |
OMIM:614321 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... |
ORPHA:615 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... |
OMIM:617228 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Abnormality of skeletal muscle fiber... |
ORPHA:2348 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Paten... |
OMIM:618652 |
Oculopharyngodistal Myopathy 2 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... |
OMIM:618940 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Insulin-resistant diabetes mellitus, Hepatic steatosis, Pancreatitis |
ORPHA:435651 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Decreased muscle mass, Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated j... |
ORPHA:465508 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Congenital hypothyroidism, Cardiomegaly |
ORPHA:88643 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Ballooning hepatocyte degeneration, Hepatic fibrosis, Hepatocellular carcino... |
OMIM:603471 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... |
OMIM:615424 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
|
Elevated circulating catecholamine level, Hypertension, Paraganglioma |
OMIM:618464 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent foramen ovale, Patent duct... |
OMIM:601005 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Abnormal cortical gyration, Patent ductus arter... |
OMIM:616867 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Autoimmunity, Decreased specific pneumococcal antibody level |
OMIM:617006 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis |
OMIM:618805 |
Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuol... |
OMIM:256550 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Skeletal muscle hypertrophy, Card... |
OMIM:300280 |
Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... |
OMIM:620286 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617760 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Thenar muscle atrophy, Fatty replacement ... |
OMIM:256030 |
Proximal Myopathy With Extrapyramidal Signs |
|
Centrally nucleated skeletal muscle fibers, Insulin-resistant diabetes mellitus, Cardiomyopathy, ... |
ORPHA:401768 |
Adult Acute Respiratory Distress Syndrome |
|
Pancreatitis, Diabetic ketoacidosis, Pneumonia |
ORPHA:70578 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart... |
ORPHA:275766 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... |
OMIM:254110 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Facial pals... |
OMIM:619424 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Eczema, Perianal abscess, Lymphadenitis, Splenomegaly, Recurrent pneumonia, U... |
OMIM:618935 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Cardiomyopathy, Increased variability in muscle fiber diameter |
OMIM:613752 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Myopathy, Mitral regurgitat... |
OMIM:212140 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Tachycardia, Eosinophilia,... |
ORPHA:98849 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Cardiomegaly, Leukocytosis, Hypertension, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Bradycardia, Weakness of facial ... |
OMIM:620265 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... |
ORPHA:57777 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
Maple Syrup Urine Disease |
|
Hypoglycemia, Pancreatitis |
OMIM:248600 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... |
OMIM:613204 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating luteinizi... |
OMIM:617253 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, Brain ab... |
OMIM:600376 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
Bethlem Myopathy 2 |
|
Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter |
OMIM:616471 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... |
OMIM:300717 |
Mast Cell Sarcoma |
|
Splenomegaly, Hepatomegaly, Mastocytosis |
ORPHA:66661 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Anemia, Cardiomegaly |
OMIM:618838 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
ORPHA:79312 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ... |
OMIM:258450 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Pancreatitis |
ORPHA:289916 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:619064 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Dyspnea, Stridor, Cough, Aspiration |
ORPHA:2004 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib... |
OMIM:619178 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, Brain ab... |
OMIM:187300 |
Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... |
OMIM:616228 |
Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist... |
OMIM:619473 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Iridocyclitis, Type II diabetes mellitus, Type I diabetes mellitus, Hypothyroidism, Pancreatitis |
ORPHA:412057 |
Arterial Calcification, Generalized, Of Infancy, 2 |
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Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Congenital Myopathy 4A, Autosomal Dominant |
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Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Dilated cardiom... |
OMIM:255310 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
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Cardiomegaly |
OMIM:613576 |
Congenital Myopathy 14 |
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Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... |
OMIM:618414 |
Myopathy, Tubular Aggregate, 1 |
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Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... |
OMIM:160565 |
Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Pri... |
OMIM:603903 |
Propionic Acidemia |
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Hepatomegaly, Hypoglycemia, Eczema, Pancreatitis |
OMIM:606054 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased c... |
OMIM:601859 |
Von Hippel-Lindau Syndrome |
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Hypertension, Polycythemia, Pheochromocytoma, Paraganglioma |
OMIM:193300 |
Cap Myopathy |
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Reduced systolic function, Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy,... |
ORPHA:171881 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
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Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... |
OMIM:619051 |
Tropical Endomyocardial Fibrosis |
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Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Tubular Aggregate Myopathy |
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Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
Hyperparathyroidism 2 With Jaw Tumors |
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Recurrent pancreatitis, Hyperparathyroidism, Pancreatic adenocarcinoma |
OMIM:145001 |
Cach Syndrome |
|
Optic neuritis, Pancreatitis, Hepatosplenomegaly |
ORPHA:135 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
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Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Patent ductus a... |
OMIM:616866 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly |
OMIM:600649 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
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Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... |
OMIM:618129 |
Mulibrey Nanism |
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Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction |
OMIM:253250 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepatosplenomegaly, Iron d... |
ORPHA:99931 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Hypoglycemia, Pancreatitis, Hepatomegaly |
OMIM:251000 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... |
ORPHA:31205 |
Refsum Disease, Classic |
|
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Limb muscle weakness |
OMIM:266500 |
Legionnaires Disease |
|
Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Bone marrow hypocellu... |
ORPHA:549 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Skeletal muscle atrophy, Increased variability in muscle fiber diameter |
ORPHA:238329 |
Congenital Myopathy 10A, Severe Variant |
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Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib... |
OMIM:614399 |
Combined Oxidative Phosphorylation Deficiency 10 |
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Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly |
OMIM:614702 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
Congenital Myopathy 6 With Ophthalmoplegia |
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Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... |
OMIM:605637 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Distal arthrogryposis, Arrhythmia |
ORPHA:42 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Pancreatitis |
ORPHA:27 |
Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... |
OMIM:616852 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
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Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber diameter, Anem... |
OMIM:226670 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... |
OMIM:253601 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Exercise-induced rhabdomyolysis, Hepatomegaly, Sudden cardiac death, Cardiomegaly, Hepatocellular... |
OMIM:201475 |
Microscopic Polyangiitis |
|
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Peritonitis, U... |
ORPHA:727 |
Rhabdomyolysis, Susceptibility To, 1 |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... |
OMIM:620235 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... |
OMIM:616924 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
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Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Cardiomegaly, Right bund... |
ORPHA:268 |
Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythema... |
ORPHA:48377 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, Increased varia... |
ORPHA:119 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperi... |
ORPHA:79086 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
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Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Generalized amyot... |
ORPHA:52430 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Perianal abscess, Leukocytosis, Vaginitis, Bone marrow hypocellularity, A... |
ORPHA:2968 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn... |
ORPHA:75840 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Increased circulating ferritin concentration, ... |
ORPHA:540 |
Roifman Syndrome |
|
Hip contracture, Noncompaction cardiomyopathy, Hypogonadotropic hypogonadism, Eosinophilia, Decre... |
ORPHA:353298 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis, Telangiectasia macularis eruptiva perstans |
OMIM:154800 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Cardiac arrest, Cardiomegaly, Myopathy, Cardiomyopathy, Left ventricular hypertroph... |
OMIM:617713 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Muscular dystrophy, Bradycardi... |
OMIM:614302 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h... |
OMIM:239850 |
Sandhoff Disease |
|
Hepatomegaly, Skeletal muscle atrophy, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly,... |
OMIM:268800 |
Mody |
|
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Hepatocellular adenoma... |
ORPHA:552 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Patent ductus arteriosus, Aortic v... |
ORPHA:1457 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter |
ORPHA:1878 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Abnormal mast cell morphology |
ORPHA:398189 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... |
OMIM:603689 |
Mogs-Cdg |
|
Decreased circulating IgG level, Hepatomegaly, Inappropriate antidiuretic hormone secretion, Card... |
ORPHA:79330 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... |
ORPHA:555874 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... |
ORPHA:99103 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Centrally nucleated skeletal muscle fibers, Cryptorchidism, Flexion contracture, Increased variab... |
OMIM:618484 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Autoimmunity, Antinuclear antibody positivity, Increased circulating interferon-gamma concentrati... |
ORPHA:85410 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune ... |
OMIM:603909 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Diabetes mellitus, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent ... |
ORPHA:444490 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... |
ORPHA:1677 |
Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... |
OMIM:620310 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... |
ORPHA:363705 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Patent duc... |
ORPHA:3427 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Cryptorchidism, Limb mus... |
ORPHA:486815 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti... |
OMIM:613673 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617072 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:207750 |
Eosinophilic Fasciitis |
|
Muscular edema, Myositis, Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... |
ORPHA:99104 |
Allergic Bronchopulmonary Aspergillosis |
|
Pulmonary arterial hypertension, Abnormal eosinophil morphology |
ORPHA:1164 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... |
OMIM:617066 |
Dysbetalipoproteinemia |
|
Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Diabetes mellitus, Gout, Hypothyroidism |
ORPHA:412 |
Congenital Myopathy 18 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... |
OMIM:620246 |
Familial Aortic Dissection |
|
Aortic regurgitation, Patent ductus arteriosus, Abnormal left ventricular function, Cardiomegaly |
ORPHA:229 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Cutaneous mastocytosis, Joint contracture of the 5th finger |
OMIM:248910 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... |
OMIM:619461 |
Microsporidiosis |
|
Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Abnormality of the spleen,... |
ORPHA:2552 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e... |
OMIM:261740 |
Primary Sclerosing Cholangitis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcinoma, Splenomegaly, Ja... |
ORPHA:171 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... |
OMIM:232300 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shorten... |
ORPHA:308552 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Pancreatitis |
OMIM:145980 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Congenital Myopathy 15 |
|
Tricuspid regurgitation, Fatty replacement of skeletal muscle, Increased variability in muscle fi... |
OMIM:620161 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Gout, Inflammation of the large in... |
OMIM:232220 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Hepatomegaly, Cardiac arrest, Myofiber disarray, Myopathy, Increased variability in muscle fiber ... |
OMIM:604377 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Scapular winging, Myositis, Facial palsy, Eosinophilia, Flexion contracture, Proximal amyotrophy,... |
OMIM:253600 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... |
OMIM:255320 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... |
ORPHA:766 |
Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... |
OMIM:619790 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Arrhythmia, Cardiomegaly |
OMIM:255120 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ... |
OMIM:620249 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Decreased serum insulin-like growth factor 1, Tachycardia, Ventricular septal defec... |
OMIM:614921 |
Systemic Capillary Leak Syndrome |
|
Myocarditis, Pericarditis, Pancreatitis |
ORPHA:188 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Decreased circulating I... |
OMIM:618278 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Primary hypercortisolism, Increased circulating cortisol level, Pancreatitis |
OMIM:610475 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Increased mean pl... |
OMIM:314050 |
Cleft Larynx, Posterior |
|
Aspiration |
OMIM:215800 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Hypoplasia ... |
OMIM:617022 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Aortopulmonary window, Iron deficiency anemia, Bacterial endocarditis, S... |
ORPHA:97214 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elbow flexi... |
OMIM:618138 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Hypoglycemia, Gout, Fasting hypoglycemia, Hepatocellular carcinoma, Pancreatitis |
OMIM:232200 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... |
OMIM:226990 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... |
OMIM:613954 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Primary hyperparathyroidism, Pancreatitis |
OMIM:145981 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Pure Autonomic Failure |
|
Abnormality of circulating catecholamine level, Syncope, Impotence, Orthostatic hypotension |
ORPHA:441 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Tachycardia, ... |
OMIM:168000 |
Schimke Immuno-Osseous Dysplasia |
|
Abnormality of thyroid physiology, Impaired T cell function, Minimal change glomerulonephritis, B... |
ORPHA:1830 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... |
ORPHA:906 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Centrally nucleated skelet... |
OMIM:613327 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Abnormal hemidiaphragm morphology... |
ORPHA:980 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... |
OMIM:617114 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... |
OMIM:612949 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
Myopathy With Lactic Acidosis, Hereditary |
|
Sideroblastic anemia, Skeletal muscle atrophy, Rhabdomyolysis, Leukopenia, Myopathy, Palpitations... |
OMIM:255125 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:613320 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hepatic steatosis, Pancreatitis |
OMIM:236200 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Pancytopenia, Epistaxis, Pericardial effusion, Splenomegaly, Throm... |
ORPHA:167 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets |
OMIM:619065 |
Congenital Myopathy 3 With Rigid Spine |
|
Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil... |
OMIM:602771 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Maculopapular exanthema, Hepatitis, Increased circulating antibody level |
ORPHA:319218 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Tachycardia, Chemodectoma, Adrenal pheochromocytoma, Glomus jugula... |
OMIM:605373 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II ... |
OMIM:151660 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatic steatosis, Pancreatitis |
ORPHA:280365 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia, Increased circulating IgE level, Sterile abscess, Decreased circulating IgA level, ... |
OMIM:618282 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased circulating IgG level, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ r... |
OMIM:619802 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Flexion contracture, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... |
OMIM:613157 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Beck-Fahrner Syndrome |
|
Facial hypotonia, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of... |
ORPHA:596 |
Mccune-Albright Syndrome |
|
Hyperthyroidism, Elevated circulating growth hormone concentration, Hepatitis, Cholestasis, Hepat... |
ORPHA:562 |
Zygomycosis |
|
Fasciitis, Sinusitis, Pericarditis, Gastritis, Diabetes mellitus, Pustule, Myocarditis, Peritonit... |
ORPHA:73263 |
Caroli Syndrome |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Hypersplenism,... |
ORPHA:480520 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly |
OMIM:619259 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Vasculitis, Cerebral ischemia, Eosinophilia |
ORPHA:26137 |
Mirizzi Syndrome |
|
Pancreatitis, Jaundice, Cholesterol gallstones, Cholelithiasis, Abnormal ductus choledochus morph... |
ORPHA:521219 |
Coccidioidomycosis |
|
Pericarditis, Osteomyelitis, Skin rash, Pneumonia, Erythema nodosum, Abnormality of the spleen, P... |
ORPHA:228123 |
Igg4-Related Kidney Disease |
|
Pericarditis, Inflammatory abnormality of the skin, Increased circulating IgG4 level, Retroperito... |
ORPHA:449395 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven... |
OMIM:306955 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Impotence, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly |
OMIM:105210 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
Pemphigus Erythematosus |
|
Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S... |
ORPHA:79480 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Cardiomegaly, Antenatal intracerebral hemorrhage, Dilated cardiomyopathy, Increased... |
OMIM:608836 |
Citrullinemia Type Ii |
|
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Hepatic steatosis, Pancreatitis |
ORPHA:247585 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatic steatosis, Hepatomegaly, Hypoglycemia, Enterocolitis, Gout, Hepatocellular adenoma, Ulcer... |
ORPHA:79259 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hepatic periportal necrosis, Hypoglycemia, Acute pancreatitis |
ORPHA:26791 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Heart block, Abnormality of neuronal migration, Renal tubular epithel... |
ORPHA:228308 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Splenomegaly, Increased variability in muscle fiber diameter, My... |
OMIM:611881 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Facial ... |
OMIM:157640 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatic steatosis, Hepatomegaly, Acute pancreatitis, Pericarditis, Chilblains, Portal hypertensio... |
OMIM:619487 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:125250 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Camptodactyly... |
ORPHA:158687 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Incr... |
OMIM:232800 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular resist... |
ORPHA:70591 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... |
ORPHA:169154 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Increased circulating IgG4 level, Lymphadenitis, Nephritis, Pancreatitis, Parotitis |
ORPHA:449427 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... |
OMIM:620138 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Hypothyroidism, Cardiomegaly |
ORPHA:349 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean cor... |
OMIM:616689 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Splenomegaly, Pancreatitis |
ORPHA:565612 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Tricuspid regurgitation, Centrally nucleated skeletal muscle f... |
OMIM:620351 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto... |
ORPHA:331206 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Flexion contracture, Muscle fiber necrosis... |
OMIM:254090 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Jaundice, Pancreatitis |
ORPHA:370348 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension |
OMIM:208000 |
Optic Atrophy 11 |
|
Splenomegaly, Facial diplegia, Increased variability in muscle fiber diameter, Fiber type grouping |
OMIM:617302 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Cerebral hemorrhage, Abnormality of skeletal muscle fiber size, Increase... |
OMIM:620278 |
Familial Mediterranean Fever |
|
Pericarditis, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Arthritis, Erysipel... |
ORPHA:342 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... |
ORPHA:3384 |
Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter |
OMIM:617235 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Arthrogryposis mu... |
OMIM:608013 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... |
OMIM:607459 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Skeletal muscle atrophy, Camptodactyly of finger, Microcytic anemia, Cardiomegaly, ... |
OMIM:256040 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo... |
ORPHA:183 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Antinuclear antibody positivity, Autoimmunity, Abnormality of tumor necrosis factor secretion |
ORPHA:85436 |
Cantú Syndrome |
|
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Sweet Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:3243 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Increased variability in muscle fiber diameter |
OMIM:617915 |
Behçet Disease |
|
Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Retrobulbar optic neurit... |
ORPHA:117 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Jaundice, Lipid accumulation in hepato... |
ORPHA:20 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Small hypothenar eminence, Hypoplasia of the musculature, Thenar muscle atrophy, Cardiomegaly, Ab... |
ORPHA:2463 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Increased circulating IgG4 level, Keratitis, Retroperitoneal fibrosis, Or... |
ORPHA:449563 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Aortic regurgitation, Bicuspid aortic valve, Transient ischemic attack, Subarachnoid hemorrhage, ... |
ORPHA:91387 |
Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Camptodactyly of finger, Hypotension, Mastocytosis, Arrhythmia |
ORPHA:2135 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Decrea... |
ORPHA:3261 |
Cystic Fibrosis |
|
Hepatomegaly, Recurrent pneumonia, Biliary cirrhosis, Bronchiectasis, Hepatosplenomegaly, Cirrhos... |
OMIM:219700 |
Melas |
|
Hypoparathyroidism, Diabetes mellitus, Recurrent pancreatitis, Type II diabetes mellitus, Type I ... |
ORPHA:550 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:619026 |
Spinocerebellar Ataxia Type 8 |
|
Aspiration, Impotence, Urinary incontinence |
ORPHA:98760 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... |
ORPHA:137675 |
Typical Nemaline Myopathy |
|
Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variability in muscle f... |
ORPHA:171436 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Limb hypertonia, Tricuspid regurgitation, Cardiomegaly |
OMIM:620306 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Splenomegaly, Hyperinsulinemia, Insulin-resi... |
OMIM:608594 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Facial hypotonia, Transient ischemic attack, Glycogen accumulation in muscle fiber ... |
ORPHA:365 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... |
OMIM:616470 |
Abetalipoproteinemia |
|
Hepatomegaly, Reticulocytosis, Acanthocytosis, Cardiomegaly, Congestive heart failure, Myopathy, ... |
ORPHA:14 |
Cystic Echinococcosis |
|
Hepatomegaly, Eosinophilia, Abscess, Abnormality of the testis size, Abnormal heart morphology, I... |
ORPHA:400 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Primary hyperparathyroidism, Pancreatitis |
OMIM:600740 |
Dermatomyositis |
|
Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Myocardial infarction, ... |
ORPHA:221 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Dilated cardiomyopathy |
ORPHA:70595 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega... |
ORPHA:96191 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Cholangitis, Eczema, Splenomegaly, Chronic hepatitis, Hepat... |
ORPHA:3260 |
Hyperekplexia 1 |
|
Aspiration, Apnea |
OMIM:149400 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Stomatitis, Hypoglycemia, Chronic pancreatitis, Gout, Inflammation of the large int... |
OMIM:232240 |
Alveolar Echinococcosis |
|
Liver abscess, Eosinophilia, Abnormal pericardium morphology, Portal hypertension, Abnormal skele... |
ORPHA:284 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Cryptorchidism, Macroglossia, Arthrogryp... |
OMIM:618143 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Splenomegaly, Hyperinsulinemia, Insulin-resistant diabetes mell... |
OMIM:269700 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Recurrent otitis media, Cholelithiasis, Hypot... |
OMIM:618268 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... |
OMIM:300967 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Flexion contracture, Macroglossia |
OMIM:230000 |
Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Inflammatory abnormality of ... |
ORPHA:900 |
Oculopharyngodistal Myopathy 1 |
|
Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Dilated cardiomyopathy, EMG: m... |
OMIM:164310 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Decreased circulating cortisol level, O... |
ORPHA:199299 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Hyperthyroidism, Increased variability in muscle fiber diameter, Primary amenorrhea, Increased mu... |
ORPHA:502423 |
Infection-Related Hemolytic Uremic Syndrome |
|
Diabetes mellitus, Pneumonia, Myocarditis, Septic arthritis, Pancreatitis, Acute colitis |
ORPHA:544482 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Diastasis recti, Cardiomegaly, Splenomegaly, Congestive heart... |
OMIM:252500 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... |
OMIM:245600 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Decreased response to growth hormone stimulation test, Glomerulonephritis, Hepatosp... |
ORPHA:470 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... |
OMIM:102700 |
Pauci-Immune Glomerulonephritis |
|
Glomerulonephritis, Crescentic glomerulonephritis, Scleritis, Tubulointerstitial nephritis, Arter... |
ORPHA:93126 |
Marburg Hemorrhagic Fever |
|
Pericarditis, Skin rash, Maculopapular exanthema, Hypoglycemia, Orchitis, Jaundice, Uveitis, Arth... |
ORPHA:99826 |
Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Stomatocytosis... |
OMIM:185000 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Diastasis recti, Cardiomegaly, Adrenocortical carcinoma,... |
OMIM:130650 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... |
ORPHA:397744 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... |
ORPHA:95430 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Cardiac arrest, Myocarditis, Thyroiditis, Lymphocytosis |
ORPHA:139402 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia ... |
OMIM:603554 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Acute pancreatitis, Erythema nodosum, Splenomegaly, Jaundice, Epididymitis, Myocard... |
ORPHA:99827 |
Arthrogryposis Multiplex Congenita 6 |
|
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congenita |
OMIM:619334 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Diabetes mellitus, Neonatal alloimmune thrombocytopenia, C... |
ORPHA:51 |
Opitz Gbbb Syndrome |
|
Hypospadias, Rectourethral fistula, Cryptorchidism, Congenital posterior urethral valve, Vesicour... |
OMIM:300000 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280785 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hepatomegaly, Skeletal muscle atrophy, Patent ductus arteriosus, Flexion contracture, Ragged-red ... |
ORPHA:17 |
Amyotrophic Lateral Sclerosis 21 |
|
Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness... |
OMIM:606070 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circulating IgE level,... |
OMIM:602450 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Peritonitis, Pancreatitis, Acute colitis |
ORPHA:90038 |
Myopathy, Mitochondrial, And Ataxia |
|
Hyperthyroidism, Primary amenorrhea, Distal amyotrophy, Increased variability in muscle fiber dia... |
OMIM:617675 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatic adenocarcinoma, Thyroiditis, Neoplasm of the gallbladder, Hepatobl... |
ORPHA:733 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Increased variability in muscle fiber diameter |
OMIM:615595 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Myositis, Respiratory insufficiency, Pulmonary arterial hypertension, Respirator... |
ORPHA:258 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration, Reduced renal corticomedullary differentiation, Multiple renal ... |
OMIM:618733 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Atrioventricular block, Macrogloss... |
ORPHA:581 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... |
ORPHA:2686 |
Stevens-Johnson Syndrome |
|
Conjunctivitis, Pancreatitis |
ORPHA:36426 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the... |
ORPHA:99889 |
Toxic Epidermal Necrolysis |
|
Conjunctivitis, Pancreatitis |
ORPHA:537 |
Tay-Sachs Disease |
|
Aspiration |
OMIM:272800 |
Liver Disease, Severe Congenital |
|
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil... |
OMIM:619991 |
Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Diabetes mellitus, Chronic pancreatitis, Cholecystitis, Hepatic steatosis |
ORPHA:98908 |
Bardet-Biedl Syndrome 20 |
|
Pancreatitis |
OMIM:619471 |
Congenital Disorder Of Glycosylation, Type Im |
|
Aspiration, Inflammatory abnormality of the skin |
OMIM:610768 |
Bohring-Opitz Syndrome |
|
Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abno... |
ORPHA:97297 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
Lysinuric Protein Intolerance |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:222700 |
Visceral Myopathy 1 |
|
Pancreatitis |
OMIM:155310 |
Developmental And Epileptic Encephalopathy 38 |
|
Aspiration |
OMIM:617020 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Primary hyperparathyroidism, Pancreatitis |
ORPHA:99880 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Primary hyperparathyroidism, Pancreatitis |
ORPHA:143 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Respiratory insufficiency due to muscle weakness, Aspiration |
ORPHA:600 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter |
OMIM:619173 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Hypoglycemia, Chronic pancreatitis |
OMIM:307030 |
Lipodystrophy, Familial Partial, Type 7 |
|
Impaired glucose tolerance, Insulin resistance, Glucose intolerance, Recurrent pancreatitis, Type... |
OMIM:606721 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Hypospadias, Cryptorchidism, Horseshoe kidney, Esophagitis, Aspiration |
ORPHA:96182 |
Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Large vessel vasculitis, Iron deficiency anemia, Abs... |
OMIM:301000 |
Pulmonary Hypertension, Primary, 4 |
|
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... |
OMIM:615344 |
Scorpion Envenomation |
|
Acute pancreatitis, Myocarditis, Hyperhidrosis, Glycosuria, Hyperglycemia |
ORPHA:466677 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Stridor, Aspiration, Neonatal respiratory distress, Apnea |
OMIM:614653 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dystrophy, Increased ... |
OMIM:613150 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Polymicrogyria, Muscular dystrophy, Agyria |
OMIM:616538 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Aspiration, Neonatal respiratory distress |
OMIM:618922 |
Native American Myopathy |
|
Skeletal muscle atrophy, Cryptorchidism, Abnormality of skeletal muscle fiber size, Congenital co... |
ORPHA:168572 |
Gm2-Gangliosidosis, Ab Variant |
|
Aspiration |
OMIM:272750 |
Esophageal Atresia |
|
Respiratory distress, Episodic respiratory distress, Chronic pulmonary obstruction, Restrictive v... |
ORPHA:1199 |
Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Mitral valve calcification, Right ventricular failure, Increased pulmonary vascular... |
ORPHA:60025 |
Familial Hypocalciuric Hypercalcemia |
|
Pancreatitis |
ORPHA:405 |
Williams Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Atrial septal defect, Hypothyroidism,... |
ORPHA:904 |
Pontine Tegmental Cap Dysplasia |
|
Aspiration |
OMIM:614688 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Aspiration |
ORPHA:2148 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Pachygyria, Cryptorchidism, Renovascular hypertension, C... |
ORPHA:3472 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, S... |
OMIM:182250 |
Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... |
OMIM:616503 |
Yellow Fever |
|
Acute pancreatitis, Skin rash, Pancreatic hyperplasia, Jaundice, Increased circulating IgM level |
ORPHA:99829 |
Myasthenic Syndrome, Congenital, 19 |
|
Increased variability in muscle fiber diameter, Facial palsy |
OMIM:616720 |
Adnp Syndrome |
|
Respiratory distress, Cryptorchidism, Urinary incontinence, Aspiration |
ORPHA:404448 |
Halperin-Birk Syndrome |
|
Aspiration |
OMIM:618651 |
Pulmonary Hypertension, Primary, 2 |
|
Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Abnormally loud pulmoni... |
OMIM:615342 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Aspiration, Apnea |
ORPHA:2131 |
Rett Syndrome, Congenital Variant |
|
Aspiration |
OMIM:613454 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Transient ischemic attack, Adrenal calcification, Cardiomegaly, Pericard... |
ORPHA:51608 |
Pulmonary Hypertension, Primary, 3 |
|
Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Elevated pulmonary arte... |
OMIM:615343 |
Developmental And Epileptic Encephalopathy 100 |
|
Aspiration |
OMIM:619777 |
Alström Syndrome |
|
Hepatomegaly, Decreased response to growth hormone stimulation test, Glomerulonephritis, Portal h... |
ORPHA:64 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Neonatal respiratory distress, Apnea, Unilateral renal agenesis, Cryptorchidism, Asthma, Atopic d... |
OMIM:619503 |
Bilateral Perisylvian Polymicrogyria |
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Aspiration, Apnea |
ORPHA:98889 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hypospadias, Pneumonia, Cryptorchidism, Asthma, Nephrolithiasis, Hydrocele testis, Otitis media, ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hypospadias, Pneumonia, Cryptorchidism, Asthma, Nephrolithiasis, Hydrocele testis, Otitis media, ... |
ORPHA:353277 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
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Iron deficiency anemia, Impaired platelet aggregation |
OMIM:618372 |