Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Edema |
OMIM:613267 |
Lipedema |
|
Edema |
OMIM:614103 |
Angioedema, Hereditary, 6 |
|
Angioedema, Facial edema, Edema of the dorsum of hands |
OMIM:619363 |
Pleural Mesothelioma |
|
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Cough, Abnormal cardiovascular sy... |
ORPHA:50251 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Neutrophilia, Acute ... |
ORPHA:36238 |
Kaposi Sarcoma, Susceptibility To |
|
Edema |
OMIM:148000 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chylopericardium, Hepatomegaly, Tricuspid regurgitation, Gastroesophageal r... |
ORPHA:2414 |
Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... |
ORPHA:280356 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Excessive insulin response to glucagon test, Large for gestationa... |
ORPHA:324575 |
Lymphatic Malformation 6 |
|
Facial edema, Chylothorax, Genital edema, Splenomegaly, Gastroesophageal reflux, Cellulitis, Noni... |
OMIM:616843 |
Lymphatic Malformation 11 |
|
Lymphedema, Pedal edema |
OMIM:619401 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... |
ORPHA:276580 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... |
ORPHA:276575 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... |
ORPHA:71529 |
Sarcoidosis |
|
Hepatomegaly, Hepatic failure, Maculopapular exanthema, Abnormal pleura morphology, Thrombocytope... |
ORPHA:797 |
Immunodeficiency 91 And Hyperinflammation |
|
Failure to thrive, Hepatomegaly, Neutrophilia, Hemophagocytosis, Acute hepatic failure, Elevated ... |
OMIM:619644 |
Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Reticulonodular pattern on pulmonary HRCT,... |
ORPHA:79126 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Ataxia, Hepatomegaly,... |
ORPHA:363400 |
Tularemia |
|
Respiratory distress, Conjunctivitis, Skin rash, Otitis media, Anemia, Leukocytosis, Cervical lym... |
ORPHA:3392 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Lipoatrophy, Pancreatitis, Hepatomegaly, Diabetes mellitus, Insulin resistance,... |
ORPHA:79084 |
Hemochromatosis, Type 1 |
|
Increased circulating ferritin concentration, Glucose intolerance, Testicular atrophy, Hepatomega... |
OMIM:235200 |
Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Cirrhosis, Loss... |
OMIM:604367 |
Lymphangioleiomyomatosis |
|
Retinal hamartoma, Chylopericardium, Chylothorax, Abnormality of the lymphatic system, Cough, Pne... |
ORPHA:538 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71526 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Hypoxemia, Splenomegal... |
OMIM:612387 |
Lymphatic Malformation 9 |
|
Predominantly lower limb lymphedema, Tortuous lymphatic vessels |
OMIM:619319 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Asthma, Elevated circulating C-reactive protein concentration, Leukocytosis, Nonproductive cough,... |
ORPHA:2902 |
Perching Syndrome |
|
High palate, Respiratory distress, Flexion contracture, Rod-cone dystrophy, Camptodactyly, Dysphagia |
OMIM:617055 |
Aspergillosis |
|
Keratitis, Abnormality on pulmonary function testing, Pneumonia, Rhinorrhea, Vitritis, Osteomyeli... |
ORPHA:1163 |
Avian Influenza |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Pneumonia, Hypoxemia... |
ORPHA:454836 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Increased C-pe... |
ORPHA:276556 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Elevated circulating acylcarnitine concentration, Failure to thrive, Ketoti... |
ORPHA:26792 |
Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Pulmonary lymphangiectasia, Chylous ascites, Palpebral edema, Nonimmun... |
OMIM:265300 |
Congenital Enterovirus Infection |
|
Respiratory distress, Hepatic failure, Cholestasis, Myocarditis, Hydrops fetalis, Hepatitis, Feta... |
ORPHA:292 |
Hypocomplementemic Urticarial Vasculitis |
|
Airway obstruction, Ataxia, Hepatomegaly, Emphysema, Skin rash, Splenomegaly, Arthritis, Cough, A... |
ORPHA:36412 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly... |
OMIM:612526 |
Poems Syndrome |
|
Respiratory insufficiency due to muscle weakness, Abnormality of the endocrine system, Diabetes m... |
ORPHA:2905 |
Hennekam Syndrome |
|
Malabsorption, Lymphangioma, Lymphopenia, Chylothorax, Hypocalcemia, Splenomegaly, Pulmonary lymp... |
ORPHA:2136 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Retinal degeneration, Rod-cone dystrophy, Bronchiolitis, Recurrent otitis m... |
OMIM:615993 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Enlarged tonsils, Increased hepatic glycogen content,... |
ORPHA:293964 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Abnormality of retinal pigmentation, Chylothorax, Cellulitis, Retinopathy, Retinal detachment, Ch... |
ORPHA:2526 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphedema, Pleural eff... |
ORPHA:545 |
Zollinger-Ellison Syndrome |
|
Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, Adrenocort... |
ORPHA:913 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, ... |
OMIM:610717 |
Amoebiasis Due To Entamoeba Histolytica |
|
Acute colitis, Leukocytosis, Pleural empyema, Constrictive pericarditis, Cough, Intestinal obstru... |
ORPHA:67 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... |
ORPHA:79299 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Insulin resistance, Decreased... |
OMIM:615703 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... |
ORPHA:411703 |
Waldenström Macroglobulinemia |
|
Ataxia, Urticaria, Hepatomegaly, Cutis marmorata, Pedal edema, Periorbital edema, Gastrointestina... |
ORPHA:33226 |
Gaucher Disease Type 2 |
|
Respiratory distress, Hepatomegaly, Flexion contracture, Splenomegaly, Cough, Dysphagia, Abnormal... |
ORPHA:77260 |
Congenital Generalized Lipodystrophy |
|
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Macroglossia, C... |
ORPHA:528 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Adrenal insufficiency, Pancreatitis, Elevated circulating creatine kinase concentration, Elevated... |
OMIM:619386 |
Mahvash Disease |
|
Type II diabetes mellitus, Palpitations, Pancreatic alpha-cell hyperplasia, Recurrent pancreatiti... |
OMIM:619290 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Joint swelling, Hepatomegaly, Elevated circulating C-reactive protein concentration, Skin rash, S... |
ORPHA:85414 |
Martinez-Frias Syndrome |
|
Annular pancreas, Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula, Pancreatic... |
OMIM:601346 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Hypomagnesemia, Lymphopenia, Hypocalcemia, Hypoproteinemia, Anemia, Decrease... |
ORPHA:90362 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Malabsorption, Duodenal atresia, Biliary atresia, Intestinal malrotation, Chole... |
OMIM:615710 |
Idiopathic Hypereosinophilic Syndrome |
|
Supraventricular arrhythmia, Respiratory distress, Urticaria, Pancreatitis, Neutrophilia, Vasculi... |
ORPHA:3260 |
Pontocerebellar Hypoplasia, Type 13 |
|
High palate, Decreased liver function, Asthma, Sleep apnea, Inability to walk, Failure to thrive,... |
OMIM:618606 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypo... |
OMIM:256450 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Failure to thrive, Pancreatitis, Hepatomegaly, Splenomegaly, Hyperammonemia... |
ORPHA:79312 |
Fusariosis |
|
Keratitis, Maculopapular exanthema, Pneumonia, Osteomyelitis, Cellulitis, Peritonitis, Arthritis,... |
ORPHA:228119 |
Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Malabsorption, Intussusception, Cirrhosis, Right ventricular failure,... |
ORPHA:90363 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Chylothorax, Polyhydramnios, Thymus hyperplasia, Neonatal respiratory distress, Congenital contra... |
OMIM:619036 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyp... |
OMIM:601820 |
Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Osteomyelitis, Abnormal jejunum morphology, Pleural empyema, E... |
ORPHA:449280 |
Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Hepatojugular reflux, Respiratory failure,... |
ORPHA:2302 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Crohn's disease, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomegaly, Eczema, Ly... |
OMIM:618935 |
Pulmonary Capillary Hemangiomatosis |
|
Interlobular septal thickening, Pulmonary edema, Hypoxemia, Hemothorax, Right ventricular failure... |
ORPHA:199241 |
Multiple Endocrine Neoplasia Type 4 |
|
Thymoma, Pituitary growth hormone cell adenoma, Elevated circulating parathyroid hormone level, A... |
ORPHA:276152 |
Pneumocystosis |
|
Chronic oral candidiasis, Multiple pulmonary cysts, Hypoxemia, Nonproductive cough, Interstitial ... |
ORPHA:723 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Failure to thrive, Hepatic failure, Hyperammonemia, Cirrhosis, Elevated alpha-fetoprotein, Elevat... |
OMIM:617049 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Tachycardia, Reactive ... |
ORPHA:276608 |
Meige Disease |
|
Predominantly lower limb lymphedema, Recurrent bacterial skin infections, Facial edema, Celluliti... |
ORPHA:90186 |
Zygomycosis |
|
Melena, Pancreatitis, Gastritis, Unusual gastrointestinal infection, Myocarditis, Hematochezia, A... |
ORPHA:73263 |
Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Ataxia, Inability to walk, Hemophagocytosis, Increa... |
ORPHA:167 |
Lipodystrophy, Familial Partial, Type 7 |
|
Reduced subcutaneous adipose tissue, Progeroid facial appearance, Orthostatic hypotension, Cutis ... |
OMIM:606721 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Cleft palate, Aspiration pneumonia, Weight loss, Upper airway obstruction, ... |
ORPHA:141152 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Optic nerve hypoplasia, Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Fryns Syndrome |
|
Anal atresia, Duodenal atresia, Stillbirth, Chylothorax, Cleft palate, Joint contracture of the h... |
OMIM:229850 |
Hydrops Fetalis |
|
Small for gestational age, Nonimmune hydrops fetalis, Arrhythmia, Abnormality of the gastrointest... |
ORPHA:1041 |
Lymphoproliferative Syndrome 1 |
|
Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating C-reactive prote... |
OMIM:613011 |
Capillary Malformation-Arteriovenous Malformation |
|
High-output congestive heart failure, Vascular skin abnormality, Chylothorax, Nonimmune hydrops f... |
ORPHA:137667 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Ileus, Failure to thrive, Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, Insu... |
OMIM:613327 |
Nocardiosis |
|
Keratitis, Respiratory distress, Lymphadenitis, Pneumonia, Pericarditis, Weight loss, Respiratory... |
ORPHA:31204 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... |
ORPHA:263458 |
Cyanosis And Hepatic Disease |
|
Dyspnea, Hepatitis, Cyanosis |
OMIM:219400 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Glucose intolerance, Hepatomegaly, Cirrhosis, Osteo... |
OMIM:606069 |
Acquired Partial Lipodystrophy |
|
Lipoatrophy, Lymphocytosis, Progeroid facial appearance, Insulin resistance, Hepatic steatosis |
ORPHA:79087 |
Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Loss of subcu... |
OMIM:151660 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Apnea, Failure to thrive, Hepatomegaly, Elevated circulating aspartate aminotransferase concentra... |
OMIM:619048 |
Mpi-Cdg |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypothy... |
ORPHA:79319 |
Q Fever |
|
Respiratory distress, Hepatomegaly, Maculopapular exanthema, Myocarditis, Pneumonia, Pericarditis... |
ORPHA:781 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Pulmonary edema, Hyperbilirubinemia, Skin rash, Tachycardia, Arrhythmia, Hypotension, Tachypnea, ... |
ORPHA:542323 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Retinal detachment, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Primary gonadal in... |
ORPHA:436182 |
Systemic Capillary Leak Syndrome |
|
Pulmonary edema, Pancreatitis, Leukocytosis, Arrhythmia, Myocarditis, Hypotension, Cough, Pedal e... |
ORPHA:188 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Lipodystr... |
OMIM:615238 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Neutrophilia, Hypoxe... |
ORPHA:1302 |
Pulmonary Arteriovenous Malformation |
|
Telangiectasia, Bacterial endocarditis, Hypoxemia, Hemothorax, Pleural empyema, Pulmonary hemorrh... |
ORPHA:2038 |
Brucellosis |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Myocarditis, Epididymitis, P... |
ORPHA:1304 |
Retinitis Pigmentosa |
|
Abnormality of retinal pigmentation, Hyperinsulinemia, Abnormal retinal vascular morphology, Type... |
ORPHA:791 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Failure to thrive, Abnormal intestine morphology, Hyperinsulinemia |
OMIM:606528 |
Primary Effusion Lymphoma |
|
Dyspnea, Pericardial effusion, Pleural effusion, Abnormality of the peritoneum |
ORPHA:48686 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Orthostati... |
ORPHA:66628 |
Lipe-Related Familial Partial Lipodystrophy |
|
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Loss of gluteal subcutane... |
ORPHA:435660 |
Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... |
OMIM:615980 |
Lipodystrophy, Familial Partial, Type 4 |
|
Lipoatrophy, Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... |
OMIM:613877 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hyp... |
OMIM:617156 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Gait disturbance, Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase |
OMIM:618400 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hepatomegaly, Hyperinsulinemic hypoglycemia, Hepatic failure, Steatorrhea, Cir... |
OMIM:602579 |
Alstrom Syndrome |
|
Chronic active hepatitis, Hepatomegaly, Hyperinsulinemia, Otitis media, Hypergonadotropic hypogon... |
OMIM:203800 |
Primary Sclerosing Cholangitis |
|
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Chronic hepatic fail... |
ORPHA:171 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Decreased liver function, Failure to thrive, Hepatomegaly, Flexion contract... |
ORPHA:367 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Hiatus hernia, Splenomegaly, Buphthalmos, Cholestasis, Pancreatic hypoplasia, Hepat... |
OMIM:610199 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Orthostati... |
ORPHA:179494 |
Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
Radio-Renal Syndrome |
|
Respiratory distress, High, narrow palate, Chylothorax, Pleural effusion, Dyspnea, Respiratory fa... |
ORPHA:3015 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Hepatic failure, Steatorrhea, Elevated circulating aspartate aminotransferase conce... |
OMIM:278000 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Failure to thrive, Ankle flexion contracture, Ataxia, Hepatomegaly, High, n... |
OMIM:608799 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Cleft palate, Hepatic failur... |
OMIM:619573 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
High palate, Respiratory distress, Failure to thrive, Gastroesophageal reflux, Cleft palate, Resp... |
OMIM:614399 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Supraventricular tachycardia, Abnormal left ventricular function, Hydrops f... |
ORPHA:45452 |
Pediatric Systemic Lupus Erythematosus |
|
Discoid lupus rash, Microangiopathic hemolytic anemia, Lymphopenia, Nephritis, Skin rash, Raynaud... |
ORPHA:93552 |
Malaria |
|
Respiratory distress, Gait imbalance, Elevated circulating C-reactive protein concentration, Hype... |
ORPHA:673 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Eczema, Neonatal death, Camptodactyly, Thrombocytopenia, Dysphagia, Pulmona... |
OMIM:619751 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Pparg-Related Familial Partial Lipodystrophy |
|
Prominent veins on trunk, Pancreatitis, Hepatomegaly, Lipoatrophy, Splenomegaly, Insulin resistan... |
ORPHA:79083 |
Wild Type Attr Amyloidosis |
|
Pulmonary edema, Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, ... |
ORPHA:330001 |
Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Hepatomegaly, Progeroid facial appearance, Abnormal circulating lipid concentra... |
ORPHA:79086 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... |
ORPHA:2298 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Decrease... |
ORPHA:435651 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency, Oligohydramnios |
OMIM:260370 |
Malignant Atrophic Papulosis |
|
Telangiectasia of the skin, Peritonitis, Myocardial infarction, Gastrointestinal infarctions, Int... |
ORPHA:679 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Pneumonia, Increased circulating free fatty acid level, Anter... |
ORPHA:26793 |
Kikuchi-Fujimoto Disease |
|
Ataxia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Vasculitis in the sk... |
ORPHA:50918 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Respiratory insufficiency due to muscle weakness, Hepatomegaly, R... |
OMIM:232300 |
Gcgr-Related Hyperglucagonemia |
|
Cholelithiasis, Abnormal biliary tract morphology, Neoplasm of the pancreas, Glucagonoma, Increas... |
ORPHA:438274 |
Sepsis In Premature Infants |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Abnormal mucociliary clearan... |
ORPHA:90051 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Pulmonary edema, Edema |
OMIM:178400 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
Macular Dystrophy, Dominant Cystoid |
|
Cystoid macular edema, Edema |
OMIM:153880 |
Granulomatous Disease, Chronic, X-Linked |
|
Impaired oxidative burst, Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid der... |
OMIM:306400 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Hepatomegaly, Decreased serum leptin, Lipodystrophy, Hypertriglyceridemia, Increa... |
ORPHA:79085 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Prolonged QT interval, Increased C-peptide level, El... |
ORPHA:71212 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent gastroenteritis, Respiratory distress, Urticaria, Gastritis, Eczema, Decreased prealbum... |
ORPHA:37042 |
Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Steatorrhea |
OMIM:615935 |
Leptin Deficiency Or Dysfunction |
|
Recurrent upper respiratory tract infections, Decreased serum leptin, Abnormal eating behavior, P... |
OMIM:614962 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Apnea, Hepatomegaly, Hepatic failure, Low plasma citrulline, Cyanosis, Optic atrophy, Hypoglycemi... |
OMIM:261680 |
Sarcoidosis, Susceptibility To, 1 |
|
Iridocyclitis, Hepatomegaly, Uveitis, Pancytopenia, Weight loss, Splenomegaly, Inflammation of th... |
OMIM:181000 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Failure to thrive, Pancreatitis, Hepatomegaly, Cerebellar hemorrhage, Hyper... |
OMIM:251000 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Ataxia, Hepatomegaly, Hyperammonemia, Cachexia, Elevated circulating cr... |
ORPHA:42 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Abnormal pulmonary interstitial morphology, Cough, Hypothyroidism, Elevated h... |
OMIM:619013 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Supraventricular arrhythmia, Reduced subcutaneous adipose tissue, Pancreatitis, Hepatomegaly, Pro... |
ORPHA:280365 |
Behçet Disease |
|
Ataxia, Pancreatitis, Myocardial infarction, Increased inflammatory response, Acne, Gastrointesti... |
ORPHA:117 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Gastroesophageal reflux, Respiratory ... |
OMIM:201475 |
Kaposiform Lymphangiomatosis |
|
Lymphangioma, Bruising susceptibility, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morpholo... |
ORPHA:464329 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Abno... |
OMIM:607616 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Asym... |
OMIM:606762 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Decreased liver function, Ataxia, Inability to walk, Gastroesophageal reflux, Failure to thrive, ... |
ORPHA:70472 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Hyperinsulinemia, Hepatomegaly, Abnormal circulating fatty-acid concent... |
ORPHA:263455 |
Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Petechiae, Hepatomegaly, Cerebral hemorrhage, Respiratory in... |
OMIM:617397 |
Esophageal Atresia |
|
Respiratory distress, Oral aversion, Cleft palate, Tracheoesophageal fistula, Pyloric stenosis, P... |
ORPHA:1199 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Hyperlipidemia, Increased serum leptin, Hypertriglyceridemia, Polyphagia, Insul... |
OMIM:617885 |
Mandibuloacral Dysplasia |
|
High palate, Increased adipose tissue around the neck, Glucose intolerance, Hyperinsulinemia, Lip... |
ORPHA:2457 |
Phosphoserine Aminotransferase Deficiency |
|
Hypoglycinemia, Apnea, Hyposerinemia, Cyanotic episode |
OMIM:610992 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr... |
OMIM:251880 |
Galactokinase Deficiency |
|
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h... |
ORPHA:79237 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615395 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Hepatomegaly, Rod-cone dystrophy, Pigmentary retinopathy, Optic atrophy, Diffuse hepatic steatosi... |
OMIM:264470 |
Coccidioidomycosis |
|
Respiratory distress, Pancreatitis, Abscess, Pneumonia, Pericarditis, Lymphadenopathy, Abnormalit... |
ORPHA:228123 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotrop... |
ORPHA:3085 |
Porphyria Cutanea Tarda |
|
Increased circulating ferritin concentration, Increased fecal porphyrin, Decreased hepcidin level... |
ORPHA:101330 |
Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Macroglossia, Small for gestational age, Maturity-onset diabe... |
ORPHA:99886 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Hypotension, Polyphagia, Postural hypotension with compens... |
ORPHA:369873 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis, Gastrointestinal infarctions, Pleural eff... |
OMIM:602248 |
Mody |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Abnormal circulating ins... |
ORPHA:552 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Failure to thrive, Hepatic steatosis |
OMIM:615595 |
Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Hepatomegaly, Hyperammonemia, Hypoglycemia, Elevated hepatic transaminase, Dec... |
OMIM:212140 |
Acute Lung Injury |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Increased circulatin... |
ORPHA:178320 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Failure to thrive, Hepatomegaly, Retinopathy, Macrovesicular hepatic steatosis, Hypertrophic card... |
OMIM:618234 |
African Iron Overload |
|
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... |
ORPHA:139507 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... |
OMIM:608594 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Pancreatitis, Hepatomegaly, Cellulitis, Splenomegaly, Lipoatrophy, Lipodystrophy, Hypertriglyceri... |
ORPHA:2348 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Pulmonary sequestration, Hyperoxemia, Small for gestational age, Right vent... |
ORPHA:70589 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Diabete... |
OMIM:616033 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Failure to thrive, Tracheomalacia, Nonproductive cough, Respiratory insuffi... |
ORPHA:60032 |
Primary Lipodystrophy |
|
Angina pectoris, Hyperlipidemia, Pancreatitis, Lipoatrophy, Type II diabetes mellitus, Splenomega... |
ORPHA:90970 |
Wilson Disease |
|
Joint swelling, Failure to thrive, Hepatomegaly, Bruising susceptibility, Splenomegaly, Acute hep... |
ORPHA:905 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Ataxia, Cyanosis, Central apnea, Choreoathetosis, Lethargy, Abnormal erythrocyte morphology |
ORPHA:71277 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... |
OMIM:614480 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... |
OMIM:301045 |
Immunodeficiency 95 |
|
Respiratory distress, Lymphopenia, Recurrent viral upper respiratory tract infections, Recurrent ... |
OMIM:619773 |
Leptospirosis |
|
Respiratory distress, Hepatomegaly, Pulmonary hemorrhage, Thrombocytopenia, Uveitis, Macular cott... |
ORPHA:509 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Melena, Elevated circulating creatinine concentration, Pneumonia, Respirato... |
ORPHA:340 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Absent bronchoalveolar surfactant-protein C, Desquamative interstiti... |
OMIM:610921 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneu... |
OMIM:610913 |
Yellow Nail Syndrome |
|
Predominantly lower limb lymphedema, Lymphedema, Hypoplasia of lymphatic vessels |
OMIM:153300 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Abscess, Myocarditis, Elevated circulating creatinine concentration, Pneumo... |
ORPHA:36234 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Arthrogryposis multiplex congenita, Apneic episodes precipitated by illness... |
OMIM:254210 |
Perlman Syndrome |
|
Abnormal pancreas morphology, Hepatomegaly, High, narrow palate, Inguinal hernia, Hyperinsulinemi... |
ORPHA:2849 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Apnea, Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increase... |
ORPHA:79644 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Conjunctivitis, Skin rash, Splenomega... |
OMIM:603552 |
Chilblain Lupus 2 |
|
Edema |
OMIM:614415 |
Ovarian Fibrothecoma |
|
Increased serum testosterone level, Peritonitis, Abnormal circulating hormone concentration, Pleu... |
ORPHA:314478 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress, Inability to walk, Progressive cerebellar ataxia, Tip-toe gait, Type I diab... |
ORPHA:2596 |
Cryptococcosis |
|
Respiratory distress, Prostatitis, Osteomyelitis, Nodular pattern on pulmonary HRCT, Cirrhosis, P... |
ORPHA:1546 |
Alpha-1-Antitrypsin Deficiency |
|
Panacinar emphysema, Reduced serum alpha-1-antitrypsin, Chronic pulmonary obstruction, Chronic br... |
OMIM:613490 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... |
OMIM:269700 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Predominantly lower limb lymphedema, Palmar telangiectasia, Cutis marmorata, Palpebral edema, Hyd... |
ORPHA:69735 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Coloboma |
OMIM:251505 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Increased serum pyruvate, Respiratory insufficiency, Increased connective t... |
ORPHA:238329 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Failure to thrive, Cyanosis, Low-output congestive heart failure, Hypertrop... |
ORPHA:91130 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Hepatomegaly, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hy... |
OMIM:617872 |
Erdheim-Chester Disease |
|
Joint swelling, Ataxia, Osteomyelitis, Polydipsia, Diabetes insipidus, Skin rash, Hypogonadotropi... |
ORPHA:35687 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Crazy paving pattern, Crackles, Tachycardia, Elevated carcinoembryonic anti... |
ORPHA:264675 |
Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Aortic valve stenosis, Chylothorax, Mitral regurgitation, Juvenile myelomonocytic leukemia, Polyh... |
OMIM:613563 |
Noonan Syndrome 8 |
|
Failure to thrive, Pulmonic stenosis, Mitral regurgitation, Eczema, Palmoplantar cutis laxa, Larg... |
OMIM:615355 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
High palate, Respiratory distress, Hepatomegaly, Macroglossia, Respiratory failure requiring assi... |
ORPHA:254864 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Pancreatitis, Hepatomegaly, Hyperammonemia, Optic atrophy, Choreoathetosis,... |
ORPHA:289916 |
Eosinophilic Fasciitis |
|
Muscular edema, Abnormal eosinophil morphology, Cellulitis, Eosinophilia, Myositis, Arthritis, Fa... |
ORPHA:3165 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Urticaria, Cutis marmorata, Myocarditis, Abnormal pleura morphology, Myocardial infarction, Incre... |
ORPHA:183 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Hyperammonemia, ... |
ORPHA:159 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia, Umbilical hernia |
OMIM:254120 |
Congenital Disorder Of Glycosylation, Type Iu |
|
High palate, Respiratory distress, Elevated circulating creatine kinase concentration, Optic atro... |
OMIM:615042 |
Familial Chylomicronemia Syndrome |
|
Failure to thrive, Hyperlipidemia, Decreased body weight, Jaundice, Hepatosplenomegaly, Pulmonary... |
ORPHA:444490 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Delayed menarc... |
ORPHA:247585 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion |
OMIM:618773 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Ataxia, Hepatomegaly, Steatorrhea, Hypergonadotropic hypogonadism, Nonimmune hydrops fetalis, Per... |
OMIM:212065 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Polyphagia, Hyperinsulinemia |
ORPHA:329249 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Broad-based gait, Pancreatitis, Hepatomegaly, Dilated cardiomyopathy, Elevated circulating alanin... |
OMIM:618805 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Flexion contracture, Elevated hepatic transaminase, Lipodystrophy, Hypertriglycerid... |
OMIM:615381 |
Familial Mediterranean Fever |
|
Crohn's disease, Hepatomegaly, Orchitis, Neutrophilia, Splenomegaly, Leukocytosis, Elevated circu... |
OMIM:249100 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Narrow palate, Joint contracture of the hand, Thyroid lymphangiectasia, Pleural lymphangiectasia,... |
OMIM:235510 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Failure to thrive, Desquamative interstitial pneumonitis, Recurrent upper r... |
OMIM:263000 |
Infant Acute Respiratory Distress Syndrome |
|
Pulmonary edema, Cyanosis, Tachycardia, Hypotension, Tachypnea, Respiratory failure, Pneumonia, R... |
ORPHA:70587 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Supraventricular arrhythmia, Multiple joint contractures, Broad-based g... |
ORPHA:2959 |
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome |
|
Lymphedema |
ORPHA:86914 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiac arrest, Hepatomegaly, Premature ventricular contraction, Hyperammonemia, Elevated circula... |
OMIM:212138 |
Coach Syndrome 2 |
|
Coloboma, Congenital hepatic fibrosis, Elevated hepatic transaminase, Hepatic fibrosis, Portal fi... |
OMIM:619111 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
High palate, Glucose intolerance, Hyperlipidemia, Progeroid facial appearance, Hyperinsulinemia, ... |
OMIM:608612 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Respiratory arrest, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating ... |
OMIM:600649 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Predominantly lower limb lymphedema, Facial edema, Genital edema, Abnormal lymphatic vessel morph... |
ORPHA:568051 |
Noonan Syndrome 1 |
|
High palate, Chylothorax, Cleft palate, High, narrow palate, Pulmonic stenosis, Amegakaryocytic t... |
OMIM:163950 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Polyphagia, Hyperinsulinemia |
OMIM:618406 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Hematochezia, Hypothyroidism, Polyhydramnios, Hypertriglyceridemia,... |
OMIM:618183 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Anaplastic thyroid carcinoma, Nodular goiter, Tracheoesophageal fistula, Go... |
ORPHA:142 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Optic disc hypoplasia, Hypoplasia of the fovea, Coloboma |
OMIM:613703 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pancreatitis, Myocarditis, Pneumonia, Generalized edema, Hypertension, Septic arthritis, Intussus... |
ORPHA:544482 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Pharyngeal edema, Facial edema, Tongue edema, Palpebral edema, Erythema, An... |
ORPHA:100057 |
Seizures, Benign Familial Infantile, 3 |
|
Apnea, Cyanosis |
OMIM:607745 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Optic atrophy, Weight loss, Pericarditis, Chilblains, Hypothyroidism, Elevated hepa... |
OMIM:619487 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Facial edema, Palpebral edema, Pulmonary embolism, Pedal edema, Anasarca, Edema, ... |
ORPHA:567546 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Cleft palate, Hypertrophic cardiomyopathy, Flexion contracture, Small for gestational age, Hydrop... |
OMIM:616897 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... |
ORPHA:1329 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Gl... |
ORPHA:189427 |
Hsd10 Disease, Infantile Type |
|
Loss of ambulation, Retinal degeneration, Rod-cone dystrophy, Hyperammonemia, Cyanosis, Optic atr... |
ORPHA:391428 |
Seizures, Benign Familial Infantile, 1 |
|
Apnea, Cyanosis |
OMIM:601764 |
Glaucoma 3, Primary Congenital, E |
|
Edema |
OMIM:617272 |
Apnea, Central Sleep |
|
Abnormal pattern of respiration, Sleep apnea, Cyanosis, Irregular respiration |
OMIM:207720 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Decreased body weight, Polyhydramnios, Dilated cardiomyopathy, Respiratory ... |
OMIM:300580 |
Slc35A1-Cdg |
|
Respiratory distress, Neutropenia, Cellulitis, Subcutaneous hemorrhage, Pulmonary hemorrhage, Pne... |
ORPHA:238459 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Acne, Increased body weight, Dorsocervical fat pad, Abnormal subcutaneous fat tissue distribution... |
ORPHA:189439 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased liver function, Increased LDL cholesterol concentration, Elevated hepatic transaminase,... |
OMIM:616829 |
Congenital Myasthenic Syndrome |
|
High palate, Ataxia, Episodic respiratory distress, Gastroesophageal reflux, Respiratory arrest, ... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
High palate, Ataxia, Episodic respiratory distress, Gastroesophageal reflux, Respiratory arrest, ... |
ORPHA:98914 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency, Difficulty walking, Recurrent pneumonia, Dysphag... |
ORPHA:254875 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... |
ORPHA:140896 |
Autoinflammatory-Pancytopenia Syndrome |
|
Failure to thrive, Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Hepatosp... |
OMIM:619858 |
Gorham-Stout Disease |
|
Osteomyelitis, Lymphangioma, Rhinorrhea, Pleural effusion, Edema |
ORPHA:73 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Cleft palate, Sudden cardiac death, Elevated circulating aspartate aminotransferase... |
OMIM:614921 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
High palate, Decreased liver function, Respiratory distress, Ataxia, Hepatomegaly, Failure to thr... |
OMIM:220110 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Hip contracture, Flexion contracture, Wrist flexion contracture, Elbow flex... |
ORPHA:1143 |
Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Increased circulating surfactant protein level, Pneumothorax, Weight loss, Respirat... |
ORPHA:60025 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia, Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia, Cyanosis |
OMIM:617973 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Ataxia, Hepatomegaly, Hepatic failure, Corneal stromal edema, ... |
ORPHA:699 |
Lymphatic Malformation 5 |
|
Predominantly lower limb lymphedema, Facial edema, Hypoplasia of lymphatic vessels |
OMIM:153200 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Ataxia, Cystic pattern on pulmonary HRCT, Difficulty walking, Oxygen desatu... |
OMIM:610978 |
Interstitial Lung And Liver Disease |
|
Failure to thrive, Hepatomegaly, Hepatic failure, Hyperammonemia, Cirrhosis, Respiratory insuffic... |
OMIM:615486 |
Triosephosphate Isomerase Deficiency |
|
Cholelithiasis, Respiratory distress, Failure to thrive, Splenomegaly, Respiratory insufficiency,... |
OMIM:615512 |
Ovarian Hyperstimulation Syndrome |
|
Increased serum testosterone level, Pulmonary edema, Hypovolemia, Peripheral edema, Pleural effus... |
ORPHA:64739 |
Donohue Syndrome |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Chole... |
OMIM:246200 |
Abetalipoproteinemia |
|
Ataxia, Hepatomegaly, Steatorrhea, Fat malabsorption, Reticulocytosis, Respiratory failure, Hypop... |
ORPHA:14 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
High palate, Apnea, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, ... |
OMIM:608836 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure |
OMIM:261650 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Ataxia, Subdural hemorrhage, Retinal degeneration, Optic atrophy, Glossitis... |
ORPHA:79282 |
Ddost-Cdg |
|
Failure to thrive, Gastroesophageal reflux, Elevated hepatic transaminase, Lipodystrophy, Primary... |
ORPHA:300536 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Hepatomegaly, Anemia, Cyanosis, Reticulocytosis, Jaundice |
OMIM:613977 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Inability to walk, Hepatomegaly, Nephritis, Macroglossia, Splenomegaly, Rec... |
OMIM:617303 |
Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Hypertriglyceridemia, C... |
OMIM:603471 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Increased serum pyruvate, Hypoglycemia, Hepatomegaly |
OMIM:614741 |
Eosinophilic Gastroenteritis |
|
Asthma, Malabsorption, Elevated circulating C-reactive protein concentration, Leukocytosis, Steat... |
ORPHA:2070 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Decreased circulating T4 concentration, Macroglossia, Congenital hypothyroi... |
ORPHA:226313 |
Tempi Syndrome |
|
Abnormality of the pulmonary vasculature, Increased hematocrit, Polycythemia, Intracranial hemorr... |
ORPHA:284227 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated circ... |
ORPHA:370 |
Autoimmune Hepatitis |
|
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... |
ORPHA:2137 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Failure to thrive, Cyanosis, Mediastinal lymphadenopathy, Reduced forced vi... |
ORPHA:91359 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cardiac shunt, Failure to thrive, Anomalous pulmonary venous return, Hepatomegaly, Left ventricul... |
ORPHA:860 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatomegaly, Truncal ataxia, Abnormal circulating creatine kinase concentration, Elevated hepati... |
ORPHA:369840 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden... |
OMIM:605809 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... |
OMIM:255120 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Flexion contracture, Small for gestational age, Elevated circulating creati... |
OMIM:616733 |
Atrial Septal Defect, Ostium Primum Type |
|
Airway obstruction, Systolic heart murmur, Right bundle branch block, Atrioventricular block, Pal... |
ORPHA:99106 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Thyroid Lymphoma |
|
Respiratory distress, Hyperthyroidism, Hypothyroidism, Upper airway obstruction, Hashimoto thyroi... |
ORPHA:97285 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Failure to thrive, Osteomyelitis leading to amputation due to slow healing fractures, Ataxia, Mic... |
OMIM:256810 |
Chronic Graft Versus Host Disease |
|
Airway obstruction, Pancytopenia, Weight loss, Flexion contracture, Erythema, Arthritis, Wheezing... |
ORPHA:99921 |
Eisenmenger Syndrome |
|
Angina pectoris, Supraventricular arrhythmia, Respiratory distress, Hepatomegaly, Elevated circul... |
ORPHA:97214 |
X-Linked Acrogigantism |
|
Increased circulating insulin-like growth factor 1 concentration, Sleep apnea, Ataxia, Decreased ... |
ORPHA:300373 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Cholestasis, Hepatocellular adenoma, Esophageal varix, Increased body weight, Porta... |
ORPHA:264580 |
Bronchial Neuroendocrine Tumor |
|
Increased serum serotonin, Hepatomegaly, Hepatic failure, Facial telangiectasia, Dermatological m... |
ORPHA:97287 |
Cholesterol Pneumonia |
|
Cyanosis, Cough, Pneumonia, Tachypnea |
OMIM:215030 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Interlobular septal thickening, Apnea, Failure to thrive, Desquamative interstitial pneumonitis, ... |
OMIM:265120 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Decreased liver function, Failure to thrive, Hyperbilirubinemia, Pulmonic stenosis, Cholestasis, ... |
OMIM:614300 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Failure to thrive, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, T... |
OMIM:614582 |
Wilson Disease |
|
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Gly... |
OMIM:277900 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Decreased sensory nerve conduction velocity, Apl... |
ORPHA:456312 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Cerebellar hemorrhage, Acute... |
ORPHA:99901 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Increased blood urea nitrogen, Orthostatic hypotension, Dehydration, Syncope, O... |
ORPHA:230 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Neuralgic Amyotrophy |
|
Respiratory insufficiency, Acrocyanosis, Cleft palate |
ORPHA:2901 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Matthew-Wood Syndrome |
|
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Duodenal stenos... |
ORPHA:2470 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Apnea, Ataxia, Hepatomegaly, Hyperuricemia, Weight loss, Cardiac arrest, Jaundice, Dehydration, T... |
ORPHA:20 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Hepatomegaly, Episodic tachypnea, Tachycardia, Apneic episodes in infancy, ... |
ORPHA:348 |
Ovarian Fibroma |
|
Mesenteric cyst, Ascites, Peritonitis, Pleural effusion |
ORPHA:314473 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Hypocalcemia, Tricuspid regurgitation, Tip-toe gait, Mitral regurgitation, Re... |
ORPHA:746 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
High palate, Postprandial hyperglycemia, Precocious puberty, Hyperinsulinemia, Small for gestatio... |
OMIM:262190 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Ataxia, Flexion contracture, Dehydration, Leukopenia, Polyhydramnios, Chore... |
OMIM:616271 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Akinesia, Decreased body weight, Hepatomegaly, Petechiae, Splenomega... |
OMIM:608013 |
White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Cyanosis, Wheezing, Cough, Intercostal retractions, Stridor |
ORPHA:137935 |
Hellp Syndrome |
|
Pulmonary edema, Cerebral hemorrhage, Increased body weight, Poor wound healing, Hypotension, Hem... |
ORPHA:244242 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Odynophagia, Facial edema, Elevated circulating C-reactive protein concentr... |
ORPHA:319213 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Hypoxemia, Aspiration pneumonia, Pulmonary insufficiency, Maternal diabetes... |
ORPHA:70588 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Steat... |
ORPHA:79303 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
High palate, Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyper... |
OMIM:248370 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia, Small for gestational age, Cyanosis, Athetosis, Exertional dyspnea |
ORPHA:621 |
Laryngotracheoesophageal Cleft |
|
Impaired oropharyngeal swallow response, Cyanosis, Cough, Aspiration, Neonatal respiratory distre... |
ORPHA:2004 |
Dpm1-Cdg |
|
Failure to thrive, Ataxia, Hepatomegaly, High, narrow palate, Retinopathy, Hepatosplenomegaly, El... |
ORPHA:79322 |
Aicardi-Goutieres Syndrome 7 |
|
Increased circulating ferritin concentration, Urticaria, Hepatomegaly, Hematochezia, Thrombocytop... |
OMIM:615846 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, High palate, Failure to thrive, Hepatomegaly, Elevated circulating creatine... |
ORPHA:329178 |
Seckel Syndrome 10 |
|
Glucose intolerance, Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Ret... |
OMIM:617253 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Cleft palate, Tracheoesophageal fistula, Nonimmune hydrops fetalis, Alveolar capillary dysplasia,... |
OMIM:265380 |
Myasthenia Gravis |
|
Hyperthyroidism, Raynaud phenomenon, Rheumatoid arthritis, Glycosuria, Myositis, Hemolytic anemia... |
ORPHA:589 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Neuromuscular dysphagia, Bradykinesia, Falls |
ORPHA:240085 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Macular atrophy, Microcornea, Coloboma |
OMIM:602499 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Ring Chromosome 22 Syndrome |
|
Lymphedema, Protruding tongue, Gait ataxia, Pleural effusion, Edema |
ORPHA:1446 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Respiratory distress, Testicular atrophy, Polyhydramnios, Atrial flutter, Dysphag... |
OMIM:160900 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
High palate, Exocrine pancreatic insufficiency, Hepatomegaly, Multiple pulmonary cysts, Prolonged... |
OMIM:619418 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Decreased response to growth hormone stimulation test, Splenomegaly, Cervical lymph... |
OMIM:602782 |
Dextrocardia |
|
Intestinal malrotation, Abnormality of the spleen, Pancreatic hypoplasia, Abnormality of abdomina... |
ORPHA:1666 |
Primary Pulmonary Hypoplasia |
|
Apnea, Asthma, Failure to thrive, Cleft palate, Cyanosis, Tachypnea, Pneumothorax, Pulmonary hypo... |
ORPHA:2257 |
Atrial Septal Defect, Ostium Secundum Type |
|
Supraventricular arrhythmia, Airway obstruction, Systolic heart murmur, Pedal edema, Pneumonia, T... |
ORPHA:99103 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Median cleft lip and palate, Respiratory failure |
ORPHA:1832 |
Autosomal Dominant Keratitis |
|
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... |
ORPHA:2334 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Atrophic muscularis propria, Gastroesophageal reflux, Small intestinal dysmotility, Cirrhosis, Ca... |
ORPHA:298 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Cyanosis, Intraalveolar phospholipid accumulation, Brain abscess, Decreased DLCO, Cough, Restrict... |
OMIM:610910 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis, Cardiomyopathy |
OMIM:615119 |
Patent Ductus Venosus |
|
Decreased liver function, Persistent patent ductus venosus, Hyperammonemia, Hypergalactosemia, Co... |
OMIM:601466 |
Farber Disease |
|
Respiratory distress, Joint swelling, Failure to thrive, Flexion contracture, Hepatic failure, No... |
ORPHA:333 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure |
OMIM:613642 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Respiratory distress, Joint swelling, Osteomyelitis, Hepatomegaly, Pustule, Skin rash, Splenomega... |
OMIM:612852 |
Rabson-Mendenhall Syndrome |
|
High palate, Reduced subcutaneous adipose tissue, Polydipsia, Furrowed tongue, Precocious puberty... |
ORPHA:769 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Decreased liver function, Failure to thrive, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:617093 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Failure to thrive, Hypocalcemia, Cleft palate, Pulmonic stenosis, Intestinal ... |
ORPHA:3426 |
X-Linked Centronuclear Myopathy |
|
High palate, Respiratory distress, Inability to walk, Respiratory failure requiring assisted vent... |
ORPHA:596 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis |
OMIM:302000 |
Hemochromatosis Type 4 |
|
Increased circulating ferritin concentration, Joint swelling, Cirrhosis, Congenital hepatic fibro... |
ORPHA:139491 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
High palate, Cholestasis, Esophageal varix, Pancytopenia, Bile duct proliferation, Respiratory fa... |
OMIM:613658 |
Rett Syndrome |
|
Failure to thrive, Inability to walk, Bradykinesia, Hyperammonemia, Increased serum pyruvate, Inc... |
ORPHA:778 |
Multiple Carboxylase Deficiency |
|
Respiratory distress, Ataxia, Skin rash, Hyperammonemia, Tachypnea, Optic atrophy, Lethargy |
ORPHA:148 |
Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Pedal edema, Respiratory f... |
ORPHA:563 |
Acquired Methemoglobinemia |
|
Respiratory distress, Methemoglobinemia, Palpitations, Tachycardia, Arrhythmia, Cyanosis, Syncope... |
ORPHA:464453 |
Atypical Werner Syndrome |
|
Telangiectasia of the skin, Hyperinsulinemia, Progeroid facial appearance, Retinal degeneration, ... |
ORPHA:79474 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Cleft palate, Coloboma |
OMIM:120433 |
Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Optic nerve hypoplasia |
OMIM:609069 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Tracheoesophageal fistula, Pulmonary hypoplasia, Pneumonia... |
ORPHA:95430 |
Hypoadrenocorticism, Familial |
|
Adrenal insufficiency, Apnea, Cyanosis, Hypoglycemia, Adrenal hypoplasia, Hyponatremia, Hyperkalemia |
OMIM:240200 |
Srd5A3-Cdg |
|
Decreased response to growth hormone stimulation test, Rod-cone dystrophy, Coloboma, Optic atroph... |
ORPHA:324737 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormality of the hepatic vasculature, Hepatomegaly, Tricuspid regurgitation, Palpitations, Mids... |
ORPHA:1677 |
Microphthalmia, Isolated 4 |
|
Absent testis, Coloboma |
OMIM:613094 |
Lysosomal Acid Lipase Deficiency |
|
Hepatic failure, Steatorrhea, Esophageal varix, Weight loss, Jaundice, Dehydration, Elevated hepa... |
ORPHA:275761 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Ataxia |
OMIM:619099 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Decreased liver function, Ataxia, Failure to thrive, Hepatomegaly, Glycosuria, Pigmentary retinop... |
ORPHA:436271 |
Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatitis, Steatorrhea, Pancreatic pseudocyst, Pleural effu... |
OMIM:167800 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cleft palate, Optic atrophy, Right bundle branch block, Atrioventricular block, Tac... |
ORPHA:137675 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Retinal dysplasia, Developmental cataract, Ocular anterior segment dysgenesis, Coloboma |
ORPHA:324416 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Pyloric stenosis, Large for gestational age, Gastrointestinal hemorrhage, G... |
ORPHA:363705 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Failure to thrive, Oligohydramnios, Lipoatrophy |
ORPHA:261304 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial effusion |
OMIM:617300 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Increased circulating ferritin concentration, Abnormality of the hepatic vasculature, Hepatosplen... |
ORPHA:210136 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Ataxia, Hyperammonemia, Eczema, Keratoconjunctivitis, Tachypnea, Perioral e... |
ORPHA:79242 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Ataxia, Urticaria, Hepatomegaly, Peritonitis, Erythema, Vasculitis, Arthritis, Intestinal obstruc... |
ORPHA:343 |
Estrogen Resistance |
|
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance, Acne |
OMIM:615363 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Failure to thrive, Ataxia, Acute hyperammonemia, Hepatomegaly, Hyperammonem... |
ORPHA:927 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Decreased plasma carnitine, Hepatic st... |
OMIM:201450 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... |
OMIM:619489 |
Lymphangiectasia, Intestinal |
|
Pedal edema, Edema, Intestinal lymphangiectasia |
OMIM:152800 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Dysphagia, Respiratory distress, Abnormal retinal morphology, Hypoplastic spleen |
ORPHA:89844 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Polydipsia, Pancreatitis, Tracheoesophageal fistula, Sudden cardiac death, ... |
ORPHA:537 |
Chylomicron Retention Disease |
|
Failure to thrive, Steatorrhea, Retinopathy, Acanthocytosis, Elevated hepatic transaminase, Hypoc... |
ORPHA:71 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Polyhydramnios, Macroglossia, Edema |
ORPHA:1423 |
Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Chronic gastritis, Exocrine pancreatic insufficienc... |
OMIM:619991 |
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis |
|
Granulomatous coronary arteritis, Papilledema, Iritis, Rheumatoid arthritis, Pleural effusion, Hy... |
OMIM:108050 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Pulmonary edema, Tachypnea, Edema, Neonatal respiratory distress, Dyspnea |
OMIM:267450 |
Hereditary Angioedema Type 1 |
|
Intestinal edema, Pharyngeal edema, Respiratory distress, Urticaria, Facial edema, Dermatographic... |
ORPHA:100050 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Coloboma |
OMIM:614497 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Reduced dihydropyrimidine dehydrogenase level, Coloboma |
OMIM:274270 |
Osteootohepatoenteric Syndrome |
|
Asthma, Failure to thrive, Hypokalemia, Microvesicular hepatic steatosis, Dehydration, Ileoileal ... |
OMIM:619377 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Failure to thrive, Hyperammonemia, Lethargy, Increased level of L-glutamic ... |
OMIM:237310 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Failure to thrive, Ataxia, Microvesicular hepatic steatosis, Tachypnea, Hypoglycemia, Increased h... |
OMIM:220111 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Pulmonary venous hypertension, Pancreatitis, Hepatomegaly, Gout, Hepatocellular adenoma, Hyperuri... |
ORPHA:79259 |
Glycogen Storage Disease Iv |
|
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Polyhydramnios, Esophageal varix... |
OMIM:232500 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Failure to thrive, Neutropenia, Hepatomegaly, Hyperammonemia, Dehydration, ... |
OMIM:251110 |
Majeed Syndrome |
|
Failure to thrive, Malabsorption, Osteomyelitis, Hepatomegaly, Inflammatory abnormality of the sk... |
ORPHA:77297 |
3-Methylglutaconic Aciduria, Type V |
|
Microvesicular hepatic steatosis, Sudden cardiac death, Nonprogressive cerebellar ataxia, Optic a... |
OMIM:610198 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Cough, Difficulty walki... |
ORPHA:86812 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Chronic otitis media, Abnormal mucociliary clearance, Bronchiectasis, Recur... |
OMIM:619466 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
High palate, Hip contracture, Respiratory distress, Mildly elevated creatine kinase, Respiratory ... |
ORPHA:1145 |
Leigh Syndrome With Cardiomyopathy |
|
Respiratory distress, Decreased liver function, Apnea, Ataxia, Failure to thrive, Pulmonic stenos... |
ORPHA:70474 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea, Ataxia, Broad-based gait, Optic atrophy, Difficulty walking |
ORPHA:79097 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Peters anomaly, Iris coloboma, Ocular anterior segment dysgenesis, Coloboma |
OMIM:610023 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminase, Hepatic fibrosis... |
ORPHA:541423 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Systolic heart murmur, Right ventricular failure, Right-to-left shunt, C... |
ORPHA:439 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress |
OMIM:616341 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Failure to thrive, Hepatomegaly, Bradykinesia, Cleft palate, Macrovesicular hepatic steatosis, Ch... |
OMIM:614924 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Jaundice, Glycosuria, Neonatal death, Elevated circulating gl... |
OMIM:231680 |
3-Methylglutaconic Aciduria Type 7 |
|
Neonatal hypoglycemia, Hypothyroidism, Elevated hepatic transaminase, Infection associated neutro... |
ORPHA:445038 |
Postsynaptic Congenital Myasthenic Syndromes |
|
High palate, Reduced vital capacity, Cyanosis, Orthopnea, Restrictive ventilatory defect, Exertio... |
ORPHA:98913 |
Aicardi-Goutieres Syndrome 1 |
|
Inability to walk, Hepatomegaly, Multiple gastric polyps, Petechiae, Splenomegaly, Erythema, Chil... |
OMIM:225750 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens... |
OMIM:616000 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Failure to thrive, Neutropenia, Hepatomegaly, Hyperammonemia, Dehydration, ... |
OMIM:251100 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Premature graying of hair, Gastroesophageal reflux, Cirrhosis, Crackles, Aplastic anemia, Reticul... |
OMIM:614742 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Sple... |
ORPHA:567983 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Apnea, Ataxia, Optic neuropathy, Hepatomegaly, Failure to thrive, Splenomegaly, Concentric hypert... |
OMIM:252010 |
Lymphoid Interstitial Pneumonia |
|
Pulmonary venous hypertension, Hepatomegaly, Multiple pulmonary cysts, Rheumatoid arthritis, Ecze... |
ORPHA:79128 |
Ethylene Glycol Poisoning |
|
Ataxia, Episodic respiratory distress, Pulmonary edema, Gastritis, Hypocalcemia, Cyanosis, Tachyc... |
ORPHA:31826 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Pustule, Skin rash, Acute hepatic failure, Lymphocytosis, Interstitial pneumonitis, Eosinophilia,... |
ORPHA:139402 |
Bangstad Syndrome |
|
Ataxia, Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gl... |
ORPHA:1227 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Hypoketotic hypo... |
ORPHA:228305 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Failure to thrive, Cachexia, Gait ataxia, Weight loss |
OMIM:612075 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Failure to thrive, Glucose intolerance, Truncal ataxia, Joint contracture of the 5th finger, Impa... |
OMIM:614407 |
Shwachman-Diamond Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Decreased response to growth hormone stimulation... |
ORPHA:811 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
High palate, Failure to thrive, Gastroesophageal reflux, Cleft palate, Macroglossia, Abnormality ... |
ORPHA:453499 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
High palate, Respiratory distress, Arthrogryposis-like hand anomaly, Paradoxical respiration, Rec... |
OMIM:620011 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Dysphagia, Bradykinesia, Respiratory distress |
ORPHA:240103 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Cyanosis, Crackles, Intraalveolar phospholipid accumulation, Decreased DLCO... |
ORPHA:747 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Splenomegaly, Intestinal malrotation, Cirrhosis, Pancreatic fibrosis, Hyperechogeni... |
OMIM:208540 |
American Trypanosomiasis |
|
Hepatomegaly, Aganglionic megacolon, Skin rash, Splenomegaly, Arrhythmia, Myocarditis, Cough, Inf... |
ORPHA:3386 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Congenital diaphragmatic hernia, Intestinal malrotation, Pulmonary hypoplas... |
ORPHA:2140 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Failure to thrive, Paroxysmal dyspnea, Cyanosis, Stridor, Severel... |
ORPHA:444013 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Weakness of muscles of respiration, Elevated circulating creatine kinase concentration, Waddling ... |
ORPHA:52430 |
Mogs-Cdg |
|
High palate, Respiratory distress, Apnea, Pulmonary edema, Hepatomegaly, Inappropriate antidiuret... |
ORPHA:79330 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Reduced pancreatic beta cells, Dehydration, Retinopathy |
ORPHA:99885 |
Gitelman Syndrome |
|
Respiratory distress, Polydipsia, Graves disease, Gout, Type I diabetes mellitus, Primary hyperal... |
ORPHA:358 |
Abruzzo-Erickson Syndrome |
|
Cleft palate, Microcornea, Coloboma, Iris coloboma, Cryptorchidism, Chorioretinal coloboma |
ORPHA:921 |
Multiple Myeloma |
|
Splenomegaly, Hyperproteinemia, Elevated circulating creatinine concentration, Weight loss, Pleur... |
ORPHA:29073 |
Sea-Blue Histiocytosis |
|
Blepharitis, Sea-blue histiocytosis, Petechiae, Hepatomegaly, Splenomegaly, Retinopathy, Mediasti... |
ORPHA:158029 |
Benign Familial Infantile Epilepsy |
|
Apnea, Cyanosis |
ORPHA:306 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor... |
ORPHA:247598 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Recurrent gastroenteritis, Respiratory distress, Airway obstruction, Inability to walk, Thrombocy... |
ORPHA:505248 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Failure to thrive |
OMIM:300934 |
17Q12 Microdeletion Syndrome |
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Pancreatic aplasia, Cryptorchidism, Oligohydramnios, Elevated hepatic transaminase |
ORPHA:261265 |
Brain-Lung-Thyroid Syndrome |
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Respiratory distress, Ataxia, Falls, Abnormal eating behavior, Respiratory failure, Hypoparathyro... |
ORPHA:209905 |
Primary Hepatic Neuroendocrine Carcinoma |
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Increased serum serotonin, Neoplasm of the liver, Hepatomegaly, Intrahepatic cholestasis with epi... |
ORPHA:100085 |
Tetrasomy 5P |
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High palate, Respiratory distress, Failure to thrive, Cyanosis, Heart murmur, Pulmonary hypoplasi... |
ORPHA:3309 |
Congenital Tracheal Stenosis |
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Respiratory distress, Anal atresia, Duodenal atresia, Abnormal stomach morphology, Morphological ... |
ORPHA:141127 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
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High palate, Failure to thrive, Pancreatitis, Inguinal hernia, Cutis marmorata, Hyperhomocystinem... |
OMIM:236200 |
Dysbetalipoproteinemia |
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Angina pectoris, Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol... |
ORPHA:412 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
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Respiratory distress, Failure to thrive, Hepatomegaly, Macroglossia, Left ventricular outflow tra... |
ORPHA:308552 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
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High palate, Respiratory distress, Inability to walk, Hepatomegaly, Flexion contracture, Optic at... |
OMIM:619383 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
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Polyhydramnios, Lymphedema, Facial edema, Edema |
OMIM:618154 |
Thymic Tumor |
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Neuroendocrine neoplasm, Palpebral edema, Neoplasm of the thymus, Mediastinal lymphadenopathy, Co... |
ORPHA:100100 |
Infantile Liver Failure Syndrome 1 |
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Failure to thrive, Hepatomegaly, Acute hepatic failure, Macrocytic anemia, Elevated hepatic trans... |
OMIM:615438 |
Combined Oxidative Phosphorylation Deficiency 37 |
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Decreased liver function, Failure to thrive, Chorioretinal hyperpigmentation, Respiratory insuffi... |
OMIM:618329 |
Congenital Fibrinogen Deficiency |
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Subcutaneous hemorrhage, Bruising susceptibility, Cyanosis, Tachycardia, Internal hemorrhage, Vol... |
ORPHA:335 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
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Respiratory distress, Failure to thrive, Ataxia, Gastroesophageal reflux, Hyponatremia |
OMIM:618426 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Increased circulating ferritin concentration, Ataxia, Hepatomegaly, Hemophagocytosis, Pancytopeni... |
OMIM:603553 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
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Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of endocrine pancreas physiology, Pylor... |
ORPHA:93111 |
Cardiomyopathy, Familial Hypertrophic, 4 |
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Respiratory distress, Left bundle branch block, Pulmonary edema, Hepatomegaly, Congestive heart f... |
OMIM:115197 |
Moebius Syndrome |
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High palate, Respiratory distress, Hypogonadotropic hypogonadism, Dysdiadochokinesis, Bifid uvula... |
OMIM:157900 |
Cocaine Intoxication |
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Supraventricular arrhythmia, Respiratory distress, Subarachnoid hemorrhage, Myocardial infarction... |
ORPHA:90068 |
Duodenal Atresia |
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Annular pancreas, Polyhydramnios, Duodenal atresia, Abnormality of the pancreas |
ORPHA:1203 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Polydipsia, Increased circulating prolactin concentration, Central diabetes insipidus, Gastrointe... |
ORPHA:293987 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
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Malabsorption, Budd-Chiari syndrome, Hepatomegaly, Hypoproteinemia, Pulmonary embolism, Iron defi... |
OMIM:226300 |
Prader-Willi Syndrome |
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Abdominal obesity, Sleep apnea, Adrenal insufficiency, Type II diabetes mellitus, Hyperinsulinemi... |
OMIM:176270 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, High, narrow pala... |
ORPHA:228308 |
Steinert Myotonic Dystrophy |
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Cholelithiasis, Testicular atrophy, Inability to walk, Hyperinsulinemia, Hypergonadotropic hypogo... |
ORPHA:273 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
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Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia, Decreased response t... |
OMIM:245590 |
Combined Oxidative Phosphorylation Deficiency 21 |
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Hyperalaninemia, Hyperprolinemia, Hepatic steatosis, Neonatal death |
OMIM:615918 |
Infantile Liver Failure Syndrome 3 |
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Hepatomegaly, Splenomegaly, Acute hepatic failure, Hyperammonemia, Cholestasis, Elevated hepatic ... |
OMIM:618641 |
Duodenal Neuroendocrine Tumor |
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Melena, Hepatic failure, Tricuspid stenosis, Intestinal carcinoid, Dermatological manifestations ... |
ORPHA:100076 |
Campomelia, Cumming Type |
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Polycystic liver disease, Polysplenia, Pancreatic cysts, Lymphedema |
OMIM:211890 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
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Respiratory distress, Hypertrophic cardiomyopathy |
OMIM:604377 |