Pancreas, Dorsal, Agenesis Of |
|
Abnormality of the pancreas, Diabetes mellitus |
OMIM:167755 |
Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:125852 |
Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:616511 |
Mahvash Disease |
|
Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cell hyperplasia, Increased g... |
OMIM:619290 |
Lipase Deficiency, Combined |
|
Type II diabetes mellitus, Pancreatitis |
OMIM:246650 |
Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Diabetes mellitus, Insulin resistance, Hepatic stea... |
ORPHA:79084 |
Gne Myopathy |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... |
ORPHA:602 |
Polycythemia Vera |
|
Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Cere... |
OMIM:263300 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Cerebral hemorrhage, Splenomegaly, Increased red blood cell mass, Myocardia... |
OMIM:133100 |
Pericardial Effusion, Chronic |
|
Polycythemia, Pericardial effusion, Constrictive pericarditis |
OMIM:260900 |
Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
Immunodeficiency, Common Variable, 5 |
|
Antinuclear antibody positivity, Chronic decreased circulating total IgG |
OMIM:613495 |
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities |
|
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... |
OMIM:618654 |
Congenital Pancreatic Cyst |
|
Pancreatitis, Jaundice |
ORPHA:313906 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Pulmonary venous hypertension... |
ORPHA:3202 |
Poems Syndrome |
|
Increased circulating antibody level, Abnormality of the endocrine system, Polycythemia, Increase... |
ORPHA:2905 |
Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Myofiber disarray, Proximal muscle weakness in lower limbs, Scapular winging, Increased variabili... |
OMIM:301075 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function |
OMIM:604765 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification, Insulin-dependent but k... |
OMIM:608189 |
Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
Erythrocytosis, Familial, 4 |
|
Polycythemia, Elevated circulating erythropoietin concentration, Increased hemoglobin, Increased ... |
OMIM:611783 |
Erythrocytosis, Familial, 5 |
|
Polycythemia, Elevated circulating erythropoietin concentration, Increased hemoglobin, Increased ... |
OMIM:617907 |
Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus |
OMIM:612227 |
Erythrocytosis, Familial, 2 |
|
Elevated circulating erythropoietin concentration, Increased hematocrit, Cerebral hemorrhage, Hyp... |
OMIM:263400 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... |
OMIM:300696 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy, Calf muscle ... |
ORPHA:353 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... |
ORPHA:98848 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Autoimmunity |
OMIM:609529 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... |
OMIM:302045 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... |
ORPHA:399058 |
Cardiomyopathy, Dilated, 1X |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Dilated cardiomyopathy, ... |
OMIM:611615 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... |
ORPHA:206549 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Skeletal muscle hypertrophy, Proximal muscle weakness in lower li... |
OMIM:619566 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, EMG: myopathic abnormalities, Rimm... |
OMIM:617158 |
Erythrocytosis, Familial, 8 |
|
Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, Normochromic anemia |
OMIM:222800 |
Aggressive Systemic Mastocytosis |
|
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Hypotension, Thromb... |
ORPHA:98850 |
Hashimoto Thyroiditis |
|
Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatitis, Pancreatic pseudocyst, Diabetes mellitus, Pancre... |
OMIM:167800 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin, Epistaxis |
ORPHA:90042 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Z-band streaming, Rimmed vacuoles, Increased variabi... |
OMIM:618655 |
Attrv122I Amyloidosis |
|
Angina pectoris, Cardiac amyloidosis, Atrial arrhythmia, Aortic valve stenosis, Tendon rupture, R... |
ORPHA:85451 |
Adult-Onset Nemaline Myopathy |
|
Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Increased variability in musc... |
ORPHA:171442 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Hereditary Myopathy With Early Respiratory Failure |
|
Hypertrophied muscle fibers, Internally nucleated skeletal muscle fibers, Calf muscle hypertrophy... |
ORPHA:178464 |
Von Hippel-Lindau Disease |
|
Abnormal left ventricular function, Polycythemia, Palpitations, Arrhythmia, Paraganglioma, Myocar... |
ORPHA:892 |
Fixed Subaortic Stenosis |
|
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... |
ORPHA:3092 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Abnormal cardiac septum morphology, Increased endomysial connective tissue, Scapular winging, Inc... |
ORPHA:437572 |
Hereditary Chronic Pancreatitis |
|
Pancreatic calcification, Jaundice, Recurrent pancreatitis, Diabetes mellitus |
ORPHA:676 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Flexion contracture, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fibe... |
OMIM:300718 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect, Increased variability in muscle fiber diameter, Myopathy |
OMIM:616816 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia, Intracranial hemorrhage, Increased circulating IgG level, Tel... |
ORPHA:284227 |
Loeffler Endocarditis |
|
Right bundle branch block, Pericarditis, Myocardial fibrosis, Abnormal morphology of the chordae ... |
ORPHA:75566 |
Lipodystrophy, Familial Partial, Type 1 |
|
Acute pancreatitis, Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperglycemia |
OMIM:608600 |
Chylous Ascites |
|
Pancreatitis |
ORPHA:1160 |
Gallbladder Disease 1 |
|
Cholelithiasis, Pancreatitis, Cholestasis, Cholecystitis, Hepatic fibrosis, Cholesterol gallstone... |
OMIM:600803 |
Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617980 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli... |
ORPHA:98849 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Thigh hypertrophy, Left ventricular hypertrophy, Calf muscle hypertrophy, Increased variability i... |
ORPHA:86812 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Limb-gir... |
OMIM:612937 |
Macrophage Activation Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:158061 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level, Autoimmunity |
OMIM:137100 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Tropical Pancreatitis |
|
Chronic calcifying pancreatitis, Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-... |
ORPHA:103918 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Intermittent jaundice, Pancreatitis, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice |
OMIM:243300 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricula... |
OMIM:618052 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... |
ORPHA:69663 |
Mast Cell Sarcoma |
|
Mastocytosis, Hepatomegaly, Splenomegaly |
ORPHA:66661 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... |
OMIM:253700 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:609820 |
Coronary Arterial Fistula |
|
Angina pectoris, Systolic heart murmur, Cardiomegaly, Abnormal heart morphology, Palpitations, Ta... |
ORPHA:2041 |
Insulin Autoimmune Syndrome |
|
Increased circulating antibody level, Systemic lupus erythematosus, Autoimmunity, Autoimmune anti... |
ORPHA:411593 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Pancreatitis |
OMIM:618230 |
Livedoid Vasculopathy |
|
Telangiectasia of the skin, Graves disease, Leukocytosis, Polycythemia, Pancytopenia, Hypertensio... |
ORPHA:542643 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Heart murmur, ... |
ORPHA:860 |
C1Q Deficiency |
|
Systemic lupus erythematosus, Autoimmunity |
OMIM:613652 |
Hypermanganesemia With Dystonia 1 |
|
Polycythemia, Hepatomegaly |
OMIM:613280 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Gout, Diabetes mellitus, Impaired glucose tolerance |
OMIM:610947 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weakness, Dilated cardiomyo... |
OMIM:300580 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Hepatic steatosis, Pancreatitis, Adrenal insufficiency |
OMIM:619386 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Increased endomysial connective tissue, EMG: myopathic abnormalities, Increased variability in mu... |
ORPHA:266 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... |
OMIM:607685 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Ogden Syndrome |
|
Enlarged kidney, Ventricular septal defect, Cardiomegaly, Torsade de pointes, Arrhythmia, Patent ... |
OMIM:300855 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Dysmenorrhea, Splenomegaly, Skeletal muscle hypertrophy, Primary amenorrhea, Oligom... |
ORPHA:79083 |
Hemochromatosis, Type 1 |
|
Amenorrhea, Testicular atrophy, Impotence, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonad... |
OMIM:235200 |
Attrv30M Amyloidosis |
|
Impotence, Atrioventricular block, Arrhythmia, Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Jau... |
ORPHA:65682 |
Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia |
OMIM:131400 |
Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased hematocrit |
OMIM:617981 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Left ventricular hypertrophy, Hypothyroidism, Myopathy, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Muscle fiber necrosis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Increase... |
OMIM:618848 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Splenomegaly, Polycythemia, Portal hypertension, Hypertrophic cardiomyopathy, Hypom... |
ORPHA:309854 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Muscular dystrophy, Increased v... |
OMIM:601954 |
Nemaline Myopathy 2 |
|
Nemaline bodies, Flexion contracture, Weakness of facial musculature, EMG: myopathic abnormalitie... |
OMIM:256030 |
Childhood-Onset Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Flexion contracture, EMG: myopathic abnormalities, Increased va... |
ORPHA:171439 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Mitral regurgitation, Sudd... |
OMIM:604169 |
Hepatocellular Carcinoma |
|
Budd-Chiari syndrome, Hepatomegaly, Type II diabetes mellitus, Polycythemia, Hepatic necrosis, Hy... |
ORPHA:88673 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Abnormal mast cell morphology |
ORPHA:398189 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Elevated circu... |
OMIM:619632 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... |
OMIM:619733 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Danon Disease |
|
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, EMG: myopathic abnormal... |
OMIM:300257 |
Spinal Muscular Atrophy, Type Iv |
|
Muscle fiber necrosis, Quadriceps muscle atrophy, Angulated muscle fibers, Calf muscle hypertroph... |
OMIM:271150 |
Abcd Syndrome |
|
Polycythemia |
OMIM:600501 |
Acute Lung Injury |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:178320 |
Distal Myopathy, Tateyama Type |
|
Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Palpitations, Increased variability ... |
ORPHA:488650 |
Timothy Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Hypothyroidism, Patent ductus arteriosus, Patent ... |
OMIM:601005 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Aplastic anemia, Myocarditis, B lymphocytopenia, Increased proportion of CD25+ ... |
ORPHA:2442 |
Fumarase Deficiency |
|
Polycythemia, Polymicrogyria |
OMIM:606812 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Cardiomegaly, Congestive heart failure |
OMIM:269920 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Dysmenorrhea, Splenomegaly, Skeletal muscle hypertrophy, Abnormality of skeletal mu... |
ORPHA:2348 |
Oculopharyngodistal Myopathy 2 |
|
Increased endomysial connective tissue, EMG: myopathic abnormalities, Rimmed vacuoles, Increased ... |
OMIM:618940 |
Mastocytosis, Cutaneous |
|
Telangiectasia macularis eruptiva perstans, Cutaneous mastocytosis |
OMIM:154800 |
Beckwith-Wiedemann Syndrome |
|
Diastasis recti, Hepatomegaly, Congenital diaphragmatic hernia, Macroglossia, Splenomegaly, Polyc... |
ORPHA:116 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Amenorrhea, Infertility, Testicular atrophy, Hepatomegaly, Decreased serum testosterone concentra... |
ORPHA:465508 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance... |
OMIM:619042 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Right atrial enlargement, Left bundle branch block, Congestive heart failure, Hepatomegaly, Myofi... |
OMIM:115197 |
Congenital Toxoplasmosis |
|
Anemia, Thrombocytopenia, Hepatomegaly, Cardiomegaly |
ORPHA:858 |
Familial Atrial Myxoma |
|
Bacterial endocarditis, Tricuspid regurgitation, Heart murmur, Pulmonic valve myxoma, Cardiomegal... |
ORPHA:615 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure |
OMIM:300886 |
Mastocytosis |
|
Telangiectasia of the skin, Hepatomegaly, Splenomegaly, Arrhythmia, Hypotension, Mastocytosis, Ch... |
ORPHA:98292 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Increased endomysial connective tissue, Proximal muscle weakness in lower limbs, Rimmed vacuoles,... |
OMIM:615424 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Decreased specific pneumococcal antibody level, Autoimmunity |
OMIM:617006 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Flexion contracture, Increased variability in muscle fiber diameter, Abnormal cortical gyration, ... |
OMIM:616867 |
Estrogen Resistance |
|
Acne, Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:615363 |
Neuraminidase Deficiency |
|
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Bone-marrow foam cells, Skeletal muscle atrop... |
OMIM:256550 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Cutaneous mastocytosis, Joint contracture of the 5th finger |
OMIM:248910 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis, Insulin-resistant diabetes mellitus |
ORPHA:435651 |
Paragangliomas 6 |
|
Hypertension, Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Congenital hypothyroidism, Cardiomegaly |
ORPHA:88643 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Reduced muscle carnitine level, Endocardial fibroelastosis, Myopathy, Hypertrophic ... |
OMIM:212140 |
Primary Lipodystrophy |
|
Type II diabetes mellitus, Pancreatitis, Splenomegaly, Cirrhosis, Insulin resistance, Hepatic ste... |
ORPHA:90970 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatic steatosis, Pancreatitis, Hepatomegaly |
OMIM:618805 |
Tibial Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, EMG: myopathic abnormalities, Quadriceps muscle weakness... |
ORPHA:609 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Pelvic girdle muscle atrophy, EMG: myopathic abnormalities, Quadriceps muscle weakness, Increased... |
OMIM:254110 |
Muscular Dystrophy, Congenital, Merosin-Positive |
|
Flexion contracture, Increased variability in muscle fiber diameter, Congenital muscular dystroph... |
OMIM:609456 |
Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... |
OMIM:245480 |
Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hepatocellular carcinoma, Hepatic fibrosis, Portal inflammation, Hepatic steatosis,... |
OMIM:603471 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Increased variability in muscle fiber diameter, Congenital muscular dystrophy, Fatty replacement ... |
OMIM:613204 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... |
ORPHA:1329 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Myocardial fibrosis, Left ventricular noncompaction cardiomyopathy, Right atrial enlargement, Hep... |
OMIM:619424 |
Isolated Right Ventricular Hypoplasia |
|
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... |
ORPHA:439 |
Central Core Disease Of Muscle |
|
Nemaline bodies, Ankle flexion contracture, Weakness of facial musculature, Increased variability... |
OMIM:117000 |
Adult Acute Respiratory Distress Syndrome |
|
Diabetic ketoacidosis, Pancreatitis, Pneumonia |
ORPHA:70578 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Neutropenia, Vacuolated lymphocytes, Hemophagocytosis, Abnormal na... |
ORPHA:167 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Leukocytosis, Congenital thrombocytopenia, Hypertension, Anemia, Cardiomegaly |
OMIM:618886 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Muscle fiber necrosis, Muscle fiber atrophy, Mitral regurgitation, Weakness of facial musculature... |
OMIM:258450 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Crohn's disease, Splenomegaly, Eczema, Lymphadenitis, Hepatosplenomegaly, Acute pancreatitis, Rec... |
OMIM:618935 |
Oculopharyngodistal Myopathy 3 |
|
Increased endomysial connective tissue, Internally nucleated skeletal muscle fibers, Weakness of ... |
OMIM:619473 |
Bethlem Myopathy 2 |
|
Myopathy, Scapular winging, Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:616471 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:618652 |
Cirrhotic Cardiomyopathy |
|
Right atrial enlargement, Hepatomegaly, Third heart sound, Left ventricular diastolic dysfunction... |
ORPHA:57777 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:300717 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Melena, Subarachnoid hemorrhage, Hematochezia, Lip telangiectasia, Facial telangiectasia, Fingerp... |
OMIM:600376 |
Maple Syrup Urine Disease |
|
Hypoglycemia, Pancreatitis |
OMIM:248600 |
Myopathy, Congenital, With Fiber-Type Disproportion |
|
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Dilated cardiomyopathy, Limb j... |
OMIM:255310 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Anemia, Cardiomegaly |
OMIM:618838 |
Sickle Cell Anemia |
|
Hepatomegaly, Priapism, Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Hypertension,... |
OMIM:603903 |
Laryngotracheoesophageal Cleft |
|
Cough, Aspiration, Neonatal respiratory distress, Dyspnea, Stridor |
ORPHA:2004 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Seckel Syndrome 10 |
|
Glucose intolerance, Elevated circulating luteinizing hormone level, Glycosuria, Impaired glucose... |
OMIM:617253 |
Cap Myopathy |
|
Abnormal muscle fiber morphology, Facial palsy, Increased variability in muscle fiber diameter, L... |
ORPHA:171881 |
Refsum Disease, Classic |
|
Arrhythmia, Limb muscle weakness, Cardiomyopathy, Cardiomegaly, Congestive heart failure |
OMIM:266500 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Pulmonary arterial hypertension, Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Iridocyclitis, Type II diabetes mellitus, Pancreatitis, Hypothyroidism, Type I diabetes mellitus |
ORPHA:412057 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Melena, Telangiectasia of the skin, Hemothorax, Pulmonary hemorrhage, Subarachnoid hemorrhage, He... |
OMIM:187300 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Pancreatitis, Hepatomegaly, Splenomegaly |
ORPHA:79312 |
Tubular Aggregate Myopathy |
|
EMG: myopathic abnormalities, Type 2 muscle fiber atrophy, Increased variability in muscle fiber ... |
ORPHA:2593 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Pancreatitis, Hepatomegaly |
ORPHA:289916 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... |
OMIM:253601 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... |
ORPHA:34516 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Muscle fiber atrophy, Secundum atrial septal defect, Flexion contracture, Diaphragmatic eventrati... |
OMIM:616866 |
Naxos Disease |
|
Abnormal heart morphology, Prolonged QRS complex, Premature ventricular contraction, Right ventri... |
OMIM:601214 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Muscle fiber necrosis, EMG: myopathic abnormalities, Diaphragmatic eventration, Increased variabi... |
OMIM:614399 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:601859 |
Myofibrillar Myopathy 11 |
|
Z-band streaming, EMG: myopathic abnormalities, Calf muscle hypertrophy, Increased variability in... |
OMIM:619178 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Cont... |
ORPHA:324410 |
Rat-Bite Fever |
|
Oligoarthritis, Pancreatitis, Pustule, Skin rash, Maculopapular exanthema, Lymphadenitis, Endocar... |
ORPHA:31205 |
Tropical Endomyocardial Fibrosis |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... |
ORPHA:75565 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Recurrent pancreatitis |
OMIM:145001 |
Myopathy, Scapulohumeroperoneal |
|
Nemaline bodies, Facial palsy, Hand muscle atrophy, Increased variability in muscle fiber diamete... |
OMIM:616852 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Rimmed vacuoles, Increased variability in muscle fiber diameter, Lower limb amyotrophy, Lower lim... |
OMIM:616924 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Ventricular hypertrophy, Pulmonary arterial... |
OMIM:619051 |
Legionnaires Disease |
|
Pancreatitis, Splenomegaly, Endocarditis, Myocarditis, Hepatitis, Infectious encephalitis, Bone m... |
ORPHA:549 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Heart murmur, Diffuse alveolar hemorrha... |
ORPHA:99931 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hypoglycemia, Tubulointerstitial nephritis, Pancreatitis, Hepatomegaly |
OMIM:251000 |
Von Hippel-Lindau Syndrome |
|
Polycythemia, Hypertension, Pheochromocytoma, Paraganglioma |
OMIM:193300 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Ventricular tachycardia, Cardiomegaly |
OMIM:600649 |
Mulibrey Nanism |
|
Myocardial fibrosis, Congestive heart failure, Hepatomegaly, Cardiomegaly, Pericardial constriction |
OMIM:253250 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Flexion contracture of finger, Hepatomegaly, Hypergonadotropic hypogonadism, Ventricular septal d... |
OMIM:602782 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Increased variability in muscle fiber diameter, Skeletal muscle atrophy |
ORPHA:238329 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Pelvic girdle muscle wea... |
ORPHA:119 |
Propionic Acidemia |
|
Hypoglycemia, Eczema, Pancreatitis, Hepatomegaly |
OMIM:606054 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Fa... |
ORPHA:52430 |
Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Right ventricular hypertrophy, Palpitations, Elevated pulmonary artery p... |
ORPHA:275766 |
Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Patent ... |
ORPHA:1457 |
Subcorneal Pustular Dermatosis |
|
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... |
ORPHA:48377 |
Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Increased variability in muscle fiber diameter,... |
OMIM:160565 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Increased endomysial connective tissue, Abnormal muscle fiber morphology, Flexion co... |
ORPHA:75840 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Hypotension, Shortened PR interval, Biventricular hypertrophy, Bradycardia, Myopath... |
OMIM:261740 |
Leukocyte Adhesion Deficiency |
|
Hyperinsulinemic hypoglycemia, Leukocytosis, Polycythemia, Impaired neutrophil chemotaxis, Thromb... |
ORPHA:2968 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Myopathy |
ORPHA:1878 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Pancreatitis, Hepatomegaly |
ORPHA:27 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Muscular edema, Right ventricular hypertrophy, Proximal muscle weakness in lower limbs, Calf musc... |
ORPHA:268 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Cirrhosis, Acute pancreatitis, Insulin-resistant diabetes mellitu... |
ORPHA:79086 |
Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Calf muscle hypertrophy, Quadriceps muscle weakness, Increased variability in muscle fiber diamet... |
OMIM:603689 |
Mucopolysaccharidosis, Type Iiib |
|
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:252920 |
Familial Chylomicronemia Syndrome |
|
Jaundice, Hepatosplenomegaly, Acute pancreatitis, Perianal abscess, Recurrent pancreatitis, Diabe... |
ORPHA:444490 |
Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Camptodactyly of finger, Arrhythmia, Hypotension, Mastocytosis |
ORPHA:2135 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Arrhythmia, Distal arthrogryposis, Cardiomegaly, Skeletal muscle atrophy, Myopathy |
ORPHA:42 |
Microscopic Polyangiitis |
|
Sinusitis, Pancreatitis, Skin rash, Peritonitis, Arthritis, Uveitis, Increased inflammatory respo... |
ORPHA:727 |
Hyperlipoproteinemia, Type Id |
|
Colitis, Pancreatitis, Hepatomegaly, Splenomegaly, Recurrent pancreatitis |
OMIM:615947 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Orthostatic hypotension due to autonomic dysfunction, Impotence, Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Muscle fiber necrosis, Palpitations, Increased variability in muscle fiber diameter, Muscular dys... |
OMIM:616812 |
Cantu Syndrome |
|
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Perica... |
OMIM:239850 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Facial diplegia, Nemaline bodies, Hypertrophied muscle fibers, Flexion contracture, Internally nu... |
ORPHA:98905 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Mitral stenosis, Weakness of facial musculature, Increased variability in muscle fiber diameter, ... |
OMIM:619461 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:540 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber diameter, Musc... |
OMIM:226670 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Rheumatoid arthritis, Abnormal circulating interleukin concentration, Autoimmunity, Antinuclear a... |
ORPHA:85410 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Sudden cardiac death, Exercise-induced rhabdomyolysis, Hyp... |
OMIM:201475 |
Roifman Syndrome |
|
Hip contracture, Hypogonadotropic hypogonadism, Eosinophilia, Hepatosplenomegaly, Noncompaction c... |
ORPHA:353298 |
Craniofaciofrontodigital Syndrome |
|
Persistent fetal circulation, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect,... |
ORPHA:363705 |
Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Abnormal mitral valve morphology, Systolic heart murmur, Transient i... |
ORPHA:99103 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Right atrial enlargement, Hepatomegaly, Tricuspid regurgitation, Right ventricular hypertrophy, A... |
ORPHA:1677 |
Primary Sclerosing Cholangitis |
|
Cholelithiasis, Neoplasm of the gallbladder, Cholangiocarcinoma, Abnormal biliary tract morpholog... |
ORPHA:171 |
Mody |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... |
ORPHA:552 |
Carnitine Palmitoyltransferase I Deficiency |
|
Arrhythmia, Hepatomegaly, Cardiomegaly |
OMIM:255120 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... |
OMIM:613673 |
Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Hepatomegaly, Splenomegaly |
OMIM:207750 |
Atrial Septal Defect, Coronary Sinus Type |
|
Supraventricular arrhythmia, Bundle branch block, Unroofed coronary sinus, Anomalous pulmonary ve... |
ORPHA:99104 |
Sandhoff Disease |
|
Impotence, Hepatomegaly, Macroglossia, Orthostatic hypotension, Hepatosplenomegaly, Skeletal musc... |
OMIM:268800 |
Eosinophilic Fasciitis |
|
Eosinophilia, Muscular edema, Abnormal eosinophil morphology, Myositis |
ORPHA:3165 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Internally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Calf muscle... |
OMIM:618138 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Gout, Hypothyroidism, Acute pancreatitis, Diabetes mellitus, Hepatic steatosis |
ORPHA:412 |
Oculopharyngodistal Myopathy 4 |
|
Weakness of facial musculature, Rimmed vacuoles, Increased variability in muscle fiber diameter, ... |
OMIM:619790 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:603909 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... |
OMIM:202700 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Pancreatitis |
OMIM:145980 |
Familial Aortic Dissection |
|
Patent ductus arteriosus, Abnormal left ventricular function, Aortic regurgitation, Cardiomegaly |
ORPHA:229 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Proximal muscle weakness in lower limbs, Increased variability in muscle fiber diameter, Type 1 m... |
OMIM:613954 |
Allergic Bronchopulmonary Aspergillosis |
|
Pulmonary arterial hypertension, Abnormal eosinophil morphology |
ORPHA:1164 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Increased muscle glycogen content, Hepatomegaly, Right axis devia... |
OMIM:232300 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Macroglossia, Left ventricular outflow tract obstruction, Left ventricular hypertro... |
ORPHA:308552 |
Minicore Myopathy With External Ophthalmoplegia |
|
Nemaline bodies, Muscular dystrophy, Increased variability in muscle fiber diameter, Type 1 and t... |
OMIM:255320 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular hypertrophy, Right ventricular failure, Hyperte... |
OMIM:178600 |
Microsporidiosis |
|
Keratitis, Sinusitis, Prostatitis, Pancreatitis, Osteomyelitis, Nephritis, Lymphadenitis, Periton... |
ORPHA:2552 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Joint contracture of the hand, Flexion contracture, Weakness of faci... |
ORPHA:536516 |
Cach Syndrome |
|
Hepatosplenomegaly, Optic neuritis, Pancreatitis |
ORPHA:135 |
Myopathy, Myofibrillar, 7 |
|
Multiple joint contractures, Nemaline bodies, Flexion contracture, Z-band streaming, Increased va... |
OMIM:617114 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Aspiration pneumonia, Pancreatitis |
ORPHA:431361 |
Glycogen Storage Disease Ib |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Gout, In... |
OMIM:232220 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Flexion contracture of finger, Increased endomysial connective tissue, Flexion contracture, Weakn... |
OMIM:618484 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Muscle fiber necrosis, Testicular atrophy, Hypergonadotropic hypogonadism, EMG: myopathic abnorma... |
OMIM:157640 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... |
OMIM:612949 |
Gaucher Disease, Type Iiic |
|
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... |
OMIM:231005 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Hepatocellular necrosis, Hepatomegaly, Decreased circulating I... |
OMIM:618278 |
Immunodeficiency 86 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst |
OMIM:619549 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Flexion contracture, Eosinophilia, Muscular dystrophy, Scapular winging, Myositis, Lower limb mus... |
OMIM:253600 |
Pure Autonomic Failure |
|
Orthostatic hypotension, Impotence, Abnormality of circulating catecholamine level, Syncope |
ORPHA:441 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:613320 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Decreased circulating IgA level, Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegal... |
OMIM:613327 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, EMG: myopathic abnormalities, Minicore myopathy, Increased variabili... |
ORPHA:486815 |
Rigid Spine Muscular Dystrophy 1 |
|
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy, Increased variab... |
OMIM:602771 |
Eisenmenger Syndrome |
|
Angina pectoris, Supraventricular arrhythmia, Hepatomegaly, Atrioventricular canal defect, Heart ... |
ORPHA:97214 |
Cleft Larynx, Posterior |
|
Aspiration |
OMIM:215800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy |
OMIM:618992 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Sudden cardiac death, Tachycardia, Cardiomegaly, Ventricular septal defect, Rhabdom... |
OMIM:614921 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased intramyocellular lipid droplets, Increased variability in muscle fiber diameter |
OMIM:619065 |
Necrobiosis Lipoidica |
|
Telangiectasia of the skin, Abnormality of the thyroid gland, Diabetes mellitus, Abnormality of n... |
ORPHA:542592 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Primary hypercortisolism, Pancreatitis, Increased circulating cortisol level |
OMIM:610475 |
Mogs-Cdg |
|
Decreased circulating IgA level, Hepatomegaly, Atrial septal defect, Inappropriate antidiuretic h... |
ORPHA:79330 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Pancreatitis, Myocarditis |
ORPHA:188 |
Glycogen Storage Disease Ia |
|
Pancreatitis, Hepatomegaly, Hepatocellular carcinoma, Gout, Hypoglycemia, Fasting hypoglycemia |
OMIM:232200 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Reduced forced vital capacity, Cough, Intercostal retractions, Tachypnea, H... |
ORPHA:91359 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Primary hyperparathyroidism, Pancreatitis |
OMIM:145981 |
Wiskott-Aldrich Syndrome |
|
Sudden cardiac death, Hematochezia, Recurrent intrapulmonary hemorrhage, Arrhythmia, Microcytic a... |
ORPHA:906 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Igg4-Related Kidney Disease |
|
Prostatitis, Pancreatitis, Increased circulating IgG1 level, Inflammatory abnormality of the skin... |
ORPHA:449395 |
Absence Of The Pulmonary Artery |
|
Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect, Systolic hea... |
ORPHA:980 |
Schimke Immuno-Osseous Dysplasia |
|
Pancreatitis, Impaired T cell function, Bone marrow hypocellularity, Abnormality of thyroid physi... |
ORPHA:1830 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Hypoplasia of the thymus, Ventricular septal defect, Overriding aorta, Cardiomegaly |
OMIM:617022 |
Igg4-Related Aortitis |
|
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Incr... |
ORPHA:449400 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hepatic steatosis, Pancreatitis |
OMIM:236200 |
X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Weakness of facial musculature, Centrally nucleated skeletal mus... |
ORPHA:596 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Increased circulating antibody level, Maculopapular exanthema, Hepatitis |
ORPHA:319218 |
Lipodystrophy, Familial Partial, Type 2 |
|
Type II diabetes mellitus, Hyperinsulinemia, Hepatomegaly, Acute pancreatitis, Insulin-resistant ... |
OMIM:151660 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Tricuspid reg... |
OMIM:620066 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Diabetes mellitus, Insulin resistance, Hepatic steatosis |
ORPHA:280365 |
Paragangliomas 1 |
|
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, E... |
OMIM:168000 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Glycogen Storage Disease Xii |
|
Nonspherocytic hemolytic anemia, Hepatomegaly, Splenomegaly, Increased variability in muscle fibe... |
OMIM:611881 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Increased endomysial connective tissue, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Mus... |
OMIM:613157 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Limb muscle weakness, Cardiomyopathy, Cardiomegaly, Congestive heart failure |
OMIM:619259 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Flexion contracture, Cardiomegaly |
OMIM:616897 |
Zygomycosis |
|
Splenic abscess, Sinusitis, Colitis, Pancreatitis, Gastritis, Nephritis, Enterocolitis, Pustule, ... |
ORPHA:73263 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Lymphopeni... |
OMIM:619802 |
Mccune-Albright Syndrome |
|
Elevated circulating growth hormone concentration, Pancreatitis, Hyperthyroidism, Increased circu... |
ORPHA:562 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Increased variability in muscle fiber diameter, Myopathy |
OMIM:125250 |
Paragangliomas 3 |
|
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, E... |
OMIM:605373 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280785 |
Coccidioidomycosis |
|
Osteomyelitis, Pancreatitis, Folliculitis, Skin rash, Peritonitis, Abnormality of the spleen, Inc... |
ORPHA:228123 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Facial hypotonia, Cardiomegaly |
OMIM:618798 |
Proximal Myopathy With Extrapyramidal Signs |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Centr... |
ORPHA:401768 |
Caroli Syndrome |
|
Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cirrhosis, Congenital hepatic fibrosis, Intrahepa... |
ORPHA:480520 |
Mirizzi Syndrome |
|
Cholelithiasis, Pancreatitis, Jaundice, Cholesterol gallstones, Gallbladder perforation, Abnormal... |
ORPHA:521219 |
Chediak-Higashi Syndrome |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutr... |
OMIM:214500 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Arrhythmia, Polymicrogyria, Enlarged kidney, Increased muscle lipid content, Dilate... |
OMIM:608836 |
Hyperlipoproteinemia, Type I |
|
Hepatosplenomegaly, Pancreatitis, Jaundice, Splenomegaly |
OMIM:238600 |
Citrullinemia Type Ii |
|
Pancreatitis, Hepatomegaly, Hepatocellular carcinoma, Hepatic fibrosis, Hepatic steatosis |
ORPHA:247585 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Muscle fiber necrosis, Flexion contracture, Increased variability in muscle fiber di... |
OMIM:254090 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Pancreatitis, Nephritis, Lymphadenitis, Increased circulating IgG4 level, Parotitis |
ORPHA:449427 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Hepatosplenomegaly, Chilblains, Hypothyroidism, Acute pancreatitis, Hepatic fibrosi... |
OMIM:619487 |
Pemphigus Erythematosus |
|
Antinuclear antibody positivity, Systemic lupus erythematosus, Autoimmunity, Anti-acetylcholine r... |
ORPHA:79480 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Periodontitis, Hepatomegaly, Pancreatitis, Enterocolitis, Increased hepatic glycogen content, Hep... |
ORPHA:79259 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Arrhythmia, Polymicrogyria, Abnormal myocardium morphology, Renal tubular epithelia... |
ORPHA:228308 |
Fucosidosis |
|
Hypothyroidism, Hepatomegaly, Decreased muscle mass, Cardiomegaly |
ORPHA:349 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Muscle fiber necrosis, Mitral regurgitation, Weakness of facial musculature, Increased variabilit... |
OMIM:607459 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Abnormal left ventricular function, Right atrial enlargement, Abnormal T-wave, Mye... |
ORPHA:70591 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hepatic periportal necrosis, Hepatomegaly, Acute pancreatitis |
ORPHA:26791 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating antibody level, Lymphopenia, Lymphocytosis, Increased circulating IgA level... |
ORPHA:169154 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Polysple... |
OMIM:306955 |
Triglyceride Deposit Cardiomyovasculopathy |
|
Inflammatory abnormality of the skin, Pancreatitis, Hepatomegaly, Splenomegaly, Diabetes mellitus |
ORPHA:565612 |
Lethal Acantholytic Erosive Disorder |
|
Hypovolemic shock, Camptodactyly of toe, Impaired myocardial contractility, Cardiomyopathy, Cardi... |
ORPHA:158687 |
Fucosidosis |
|
Hepatomegaly, Vacuolated lymphocytes, Flexion contracture, Splenomegaly, Macroglossia, Cardiomegaly |
OMIM:230000 |
Familial Mediterranean Fever |
|
Pancreatitis, Orchitis, Skin rash, Splenomegaly, Peritonitis, Osteoarthritis, Erysipelas, Arthrit... |
ORPHA:342 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Myocardial infarction, Dilated cardiomyopathy, Hypertension, Cardiomegaly, Congestive heart failure |
OMIM:208000 |
Truncus Arteriosus |
|
Abnormal heart valve physiology, Adrenocortical abnormality, Atrial septal defect, Right ventricu... |
ORPHA:3384 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Arthrogryposis multiplex congenita, Anemia, Throm... |
OMIM:608013 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of tumor necrosis factor secretion, Antinuclear antibody positivity, Autoimmunity |
ORPHA:85436 |
Typical Nemaline Myopathy |
|
Facial diplegia, Nemaline bodies, Flexion contracture, Increased variability in muscle fiber diam... |
ORPHA:171436 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... |
OMIM:603554 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Cardiomegaly |
ORPHA:1517 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Decreased circulating IgA level, Lymphopenia, Hepatomegaly, Decreased circ... |
ORPHA:331206 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Increased variability in muscle fiber diameter, Flexion contracture |
OMIM:619026 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... |
OMIM:616689 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Congenital muscular dystrophy, Facial palsy, Increased variability in muscle fiber diameter, Flex... |
OMIM:616470 |
Sweet Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:3243 |
Behçet Disease |
|
Optic neuritis, Pancreatitis, Orchitis, Splenomegaly, Endocarditis, Myositis, Keratoconjunctiviti... |
ORPHA:117 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Abnormal pericardium morphology, Recurrent intrapulmonary hemorrhage, Eosinophilia, Endocarditis,... |
ORPHA:183 |
Igg4-Related Ophthalmic Disease |
|
Keratitis, Sinusitis, Prostatitis, Pancreatitis, Orchitis, Increased circulating IgG4 level, Retr... |
ORPHA:449563 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Hypoplasia of the musculature, Mucosal telangiectasiae, Small hypothenar eminence, Abnormality of... |
ORPHA:2463 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Increased variability in muscle fiber diameter, Ragged-red muscle fibers, Dilated cardiomyopathy |
ORPHA:70595 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Abnormal left ventricular function, Bicuspid aortic valve, Hypovolemia, Subarachnoid hemorrhage, ... |
ORPHA:91387 |
Spinocerebellar Ataxia Type 8 |
|
Impotence, Aspiration, Urinary incontinence |
ORPHA:98760 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Pancreatitis, Jaundice |
ORPHA:370348 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating antibody level, Flexion contracture of finger, Hepatomegaly, Increased circ... |
OMIM:256040 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Bone marrow hypocellularity, Reticuloc... |
ORPHA:3261 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hyperinsulinemia, Hepatomegaly, Splenomegaly, Cirrhosis, Insulin-resistant diabetes mellitus at p... |
OMIM:608594 |
Melas |
|
Hypoparathyroidism, Type II diabetes mellitus, Hypothyroidism, Type I diabetes mellitus, Recurren... |
ORPHA:550 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Hepatomegaly, Tachycardia, Junction... |
ORPHA:137675 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Lipid accumulation in hepatocytes, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Rec... |
ORPHA:20 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmunity |
ORPHA:231154 |
Abetalipoproteinemia |
|
Hepatomegaly, Reticulocytosis, Acanthocytosis, Hypothyroidism, Myopathy, Anemia, Distal lower lim... |
ORPHA:14 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Glycogen accumulation in muscle fiber lysosomes, Hepatomegaly, Flexion contracture, Left ventricu... |
ORPHA:365 |
Cystic Fibrosis |
|
Exocrine pancreatic insufficiency, Pancreatitis, Hepatomegaly, Cirrhosis, Hepatosplenomegaly, Chr... |
OMIM:219700 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Primary hyperparathyroidism, Pancreatitis |
OMIM:600740 |
Oculopharyngodistal Myopathy 1 |
|
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Fa... |
OMIM:164310 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Nonspherocytic hemolytic anemia, Spontaneous hemolytic crises, Impaired neutrophil bactericidal a... |
OMIM:613470 |
Dermatomyositis |
|
Telangiectasia of the skin, Abnormal eosinophil morphology, Sinus tachycardia, Arrhythmia, Myocar... |
ORPHA:221 |
Alveolar Echinococcosis |
|
Cutaneous abscess, Increased circulating antibody level, Budd-Chiari syndrome, Abnormal pericardi... |
ORPHA:284 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anisocytosis, Schistocytosis, Hemoly... |
OMIM:224120 |
Idiopathic Hypereosinophilic Syndrome |
|
Colitis, Pancreatitis, Inflammatory abnormality of the skin, Splenomegaly, Eczema, Chronic hepati... |
ORPHA:3260 |
Hyperekplexia 1 |
|
Apnea, Aspiration |
OMIM:149400 |
Craniofaciofrontodigital Syndrome |
|
Cardiomegaly, Abnormal heart morphology |
OMIM:114620 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Increased muscle glycogen content, Hyperthyroidism, Weakness of facial musculature, EMG: myopathi... |
ORPHA:502423 |
Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hyperinsulinemia, Hepatomegaly, Type II diabetes mellitus, Splenomegaly, Cirrhosis, Insulin-resis... |
OMIM:269700 |
Sjogren Syndrome |
|
Rheumatoid arthritis, Autoimmunity |
OMIM:270150 |
Cushing Disease |
|
Amenorrhea, Paradoxical increased cortisol secretion on dexamethasone suppression test, Lymphopen... |
ORPHA:96253 |
Mucolipidosis Ii Alpha/Beta |
|
Diastasis recti, Hepatomegaly, Macroglossia, Splenomegaly, Mitral regurgitation, Heart murmur, En... |
OMIM:252500 |
Pauci-Immune Glomerulonephritis |
|
Pancreatitis, Tubulointerstitial nephritis, Crescentic glomerulonephritis, Glomerulonephritis, Ar... |
ORPHA:93126 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Lower limb muscle w... |
ORPHA:397744 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Prostatitis, Pancreatitis, Skin rash, Otitis media, Chronic otitis media, Increased in... |
ORPHA:900 |
Leigh Syndrome With Nephrotic Syndrome |
|
Cardiomegaly |
ORPHA:255249 |
Arthrogryposis Multiplex Congenita 6 |
|
Nemaline bodies, Increased variability in muscle fiber diameter, Arthrogryposis multiplex congenita |
OMIM:619334 |
Infection-Related Hemolytic Uremic Syndrome |
|
Acute colitis, Pancreatitis, Myocarditis, Pneumonia, Diabetes mellitus, Septic arthritis |
ORPHA:544482 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Adrenocorticotropic hormone deficiency, Graves disease, Pituitary adenoma, De... |
ORPHA:199299 |
Marburg Hemorrhagic Fever |
|
Increased circulating antibody level, Pancreatitis, Orchitis, Skin rash, Maculopapular exanthema,... |
ORPHA:99826 |
Glycogen Storage Disease Ic |
|
Chronic pancreatitis, Hepatomegaly, Hepatoblastoma, Hepatocellular carcinoma, Gout, Hypoglycemia |
OMIM:232240 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Hepatomegaly, Macroglossia, Ventricular septal defect, Neonatal insulin-depen... |
ORPHA:96191 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Atrial septal defect, Congenital diaphragmatic hernia, Left ventricular hy... |
OMIM:245600 |
Developmental And Epileptic Encephalopathy 95 |
|
Multiple joint contractures, Hepatomegaly, Macroglossia, Arthrogryposis multiplex congenita, Card... |
OMIM:618143 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... |
OMIM:300967 |
Amyotrophic Lateral Sclerosis 21 |
|
Hand muscle weakness, Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder g... |
OMIM:606070 |
Congenital Tracheomalacia |
|
Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septal defect, Partial a... |
ORPHA:95430 |
Myopathy, Mitochondrial, And Ataxia |
|
Hyperthyroidism, Increased variability in muscle fiber diameter, Primary amenorrhea, Distal amyot... |
OMIM:617675 |
Lysinuric Protein Intolerance |
|
Increased circulating antibody level, Hepatomegaly, Pancreatitis, Decreased response to growth ho... |
ORPHA:470 |
Crimean-Congo Hemorrhagic Fever |
|
Adrenal insufficiency, Hemoperitoneum, Hepatomegaly, Orchitis, Splenomegaly, Conjunctivitis, Paro... |
ORPHA:99827 |
Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Neonatal alloimmune thrombocytopenia, Raynaud phenomenon, Hepatosple... |
ORPHA:51 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating IgA level, Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, ... |
OMIM:102700 |
Mucopolysaccharidosis Type 3 |
|
Abnormal mitral valve morphology, Atrioventricular block, Hepatomegaly, Flexion contracture, Sple... |
ORPHA:581 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hepatomegaly, Flexion contracture, Increased variability in muscle fiber diameter, Increased intr... |
ORPHA:17 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute colitis, Peritonitis, Pancreatitis |
ORPHA:90038 |
Nephronophthisis-Like Nephropathy 1 |
|
Chronic pancreatitis, Pancreatic cysts |
OMIM:613159 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Lymphocytosis, Eosinophilia, Myocarditis, Cardiac arrest, Thyroiditis |
ORPHA:139402 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... |
ORPHA:99125 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Respiratory insufficiency, Myositis, Aspiration, Hypoventilation, Intercostal muscle weakness, Pu... |
ORPHA:258 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Reduced renal corticomedullary differentiation, Multiple renal cysts, Aspir... |
OMIM:618733 |
Cyclic Neutropenia |
|
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... |
ORPHA:2686 |
Familial Adenomatous Polyposis |
|
Thyroiditis, Cholangiocarcinoma, Pancreatitis, Hepatoblastoma, Hypothyroidism, Biliary tract obst... |
ORPHA:733 |
Beckwith-Wiedemann Syndrome |
|
Diastasis recti, Hepatomegaly, Macroglossia, Pancreatic hyperplasia, Enlarged kidney, Adrenocorti... |
OMIM:130650 |
Mucoepithelial Dysplasia, Hereditary |
|
Corneal neovascularization, Melena, Eosinophilia, Cor pulmonale |
OMIM:158310 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor ex... |
OMIM:602450 |
Bardet-Biedl Syndrome 20 |
|
Pancreatitis |
OMIM:619471 |
Neutral Lipid Storage Myopathy |
|
Chronic pancreatitis, Hepatomegaly, Cholecystitis, Diabetes mellitus, Hepatic steatosis |
ORPHA:98908 |
Tay-Sachs Disease |
|
Aspiration |
OMIM:272800 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly, Telangiectasia of the oral mucosa |
ORPHA:79280 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Increased variability in muscle fiber diameter, Type 2 muscle fiber predominance |
OMIM:619173 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... |
OMIM:109270 |
Congenital Disorder Of Glycosylation, Type Im |
|
Inflammatory abnormality of the skin, Aspiration |
OMIM:610768 |
Stevens-Johnson Syndrome |
|
Pancreatitis, Conjunctivitis |
ORPHA:36426 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Myocardial infarcti... |
ORPHA:99889 |
Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Lower limb hypertonia, Bilateral wrist flexion contracture, C... |
ORPHA:97297 |
Toxic Epidermal Necrolysis |
|
Pancreatitis, Conjunctivitis |
ORPHA:537 |
Visceral Myopathy 1 |
|
Pancreatitis |
OMIM:155310 |
Lysinuric Protein Intolerance |
|
Pancreatitis, Hepatomegaly, Splenomegaly |
OMIM:222700 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Aspiration, Respiratory insufficiency due to muscle weakness |
ORPHA:600 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Primary hyperparathyroidism, Pancreatic adenocarcinoma, Pancreatitis |
ORPHA:99880 |
Liver Disease, Severe Congenital |
|
Dilatation of the ventricular cavity, Abnormal left ventricular function, Hepatomegaly, Lymphocyt... |
OMIM:619991 |
Parathyroid Carcinoma |
|
Primary hyperparathyroidism, Pancreatic adenocarcinoma, Pancreatitis |
ORPHA:143 |
Lipodystrophy, Familial Partial, Type 7 |
|
Glucose intolerance, Impaired glucose tolerance, Type I diabetes mellitus, Recurrent pancreatitis... |
OMIM:606721 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Macroglossia, Skeletal muscle hypertrophy, Muscular dystrophy, Increased variability in muscle fi... |
OMIM:613150 |
Scorpion Envenomation |
|
Glycosuria, Myocarditis, Acute pancreatitis, Hyperhidrosis, Hyperglycemia |
ORPHA:466677 |
Opitz Gbbb Syndrome |
|
Micropenis, Hypospadias, Aspiration, Rectourethral fistula, Congenital posterior urethral valve, ... |
OMIM:300000 |
Pulmonary Hypertension, Primary, 4 |
|
Elevated pulmonary artery pressure, Pulmonary arterial hypertension with lack of acute response t... |
OMIM:615344 |
Wiskott-Aldrich Syndrome |
|
Melena, Decreased mean platelet volume, Large vessel vasculitis, Abnormal delayed hypersensitivit... |
OMIM:301000 |
Gm2-Gangliosidosis, Ab Variant |
|
Aspiration |
OMIM:272750 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Hypospadias, Horseshoe kidney, Esophagitis, Aspiration, Obstructive sleep apnea |
ORPHA:96182 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Neonatal respiratory distress, Apnea, Stridor, Aspiration |
OMIM:614653 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Neonatal respiratory distress, Aspiration |
OMIM:618922 |
Native American Myopathy |
|
Muscle fiber atrophy, Abnormality of skeletal muscle fiber size, Camptodactyly, Arthrogryposis mu... |
ORPHA:168572 |
Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Right ventricular failure, Mitral valve calcification, Increased pulmonary vascular... |
ORPHA:60025 |
Williams Syndrome |
|
Abnormal cardiac septum morphology, Sudden cardiac death, Ventricular septal defect, Myocardial i... |
ORPHA:904 |
Familial Hypocalciuric Hypercalcemia |
|
Pancreatitis |
ORPHA:405 |
Esophageal Atresia |
|
Respiratory distress, Laryngotracheomalacia, Episodic respiratory distress, Chronic pulmonary obs... |
ORPHA:1199 |
Singleton-Merten Syndrome 1 |
|
Aortic valve calcification, Muscle fiber atrophy, Aortic valve stenosis, Tendon rupture, Mitral v... |
OMIM:182250 |
Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Aspiration |
ORPHA:2148 |
Pontine Tegmental Cap Dysplasia |
|
Aspiration |
OMIM:614688 |
Yellow Fever |
|
Skin rash, Pancreatic hyperplasia, Acute pancreatitis, Increased circulating IgM level, Jaundice |
ORPHA:99829 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Splenomegaly, Granulomatosis, Rectal abscess, Impaired oxidative burst, Liver abscess |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Splenomegaly, Granulomatosis, Rectal abscess, Impaired oxidative burst, Liver abscess |
OMIM:233710 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Splenomegaly, Granulomatosis, Rectal abscess, Impaired oxidative burst, Liver abscess |
OMIM:233690 |
Yunis-Varon Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Renovascular hypertension, Ventricular septal defect, ... |
ORPHA:3472 |
Halperin-Birk Syndrome |
|
Aspiration |
OMIM:618651 |
Generalized Arterial Calcification Of Infancy |
|
Adrenal calcification, Weak pulse, Retinal hemorrhage, Pericardial effusion, Left ventricular sys... |
ORPHA:51608 |
Pulmonary Hypertension, Primary, 2 |
|
Pulmonary arterial hypertension, Abnormally loud pulmonic component of the second heart sound, In... |
OMIM:615342 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Aspiration |
ORPHA:2131 |
Rett Syndrome, Congenital Variant |
|
Aspiration |
OMIM:613454 |
Pulmonary Hypertension, Primary, 3 |
|
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Increased pulmonary vascular... |
OMIM:615343 |
Developmental And Epileptic Encephalopathy 100 |
|
Aspiration, Central sleep apnea, Obstructive sleep apnea |
OMIM:619777 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Splenomegaly, Liver abscess, Granulomatosis, Rectal abscess, Granuloma, Impaired ox... |
OMIM:306400 |
Adnp Syndrome |
|
Respiratory distress, Aspiration, Urinary incontinence |
ORPHA:404448 |
Alström Syndrome |
|
Hyperinsulinemia, Type II diabetes mellitus, Decreased circulating T4 concentration, Abnormal liv... |
ORPHA:64 |
Bilateral Perisylvian Polymicrogyria |
|
Apnea, Aspiration |
ORPHA:98889 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Asthma, Apnea, Micropenis, Unilateral renal agenesis, Atopic dermatitis, Chronic otitis media, Ur... |
OMIM:619503 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Nephrolithiasis, Asthma, Otitis media, Hypospadias, Aspiration, Pneumonia, Hydronephrosis, Vesico... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Nephrolithiasis, Asthma, Otitis media, Hypospadias, Aspiration, Pneumonia, Hydronephrosis, Vesico... |
ORPHA:353277 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Impaired platelet aggregation, Iron deficiency anemia |
OMIM:618372 |