Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Respiratory insufficiency, Hepatomegaly, Lethargy |
OMIM:618224 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatic steatosis, Lethargy |
ORPHA:26792 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Hepatic steatosis |
OMIM:615595 |
Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Coma, Respiratory insufficiency, Hepatomegaly, Lethargy |
ORPHA:28 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:294 |
Gaucher Disease Type 2 |
|
Respiratory distress, Hepatomegaly, Flexion contracture, Splenomegaly, Cough, Abnormal pattern of... |
ORPHA:77260 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615395 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Lethal Infantile Mitochondrial Myopathy |
|
Neonatal respiratory distress, Fatal liver failure in infancy, Lethargy |
ORPHA:254857 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Azoospermia, Lethargy |
OMIM:602390 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Coma, Confusion, Elevated hepatic transaminase, Decreased carnitine level in liver,... |
OMIM:212140 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Respiratory arrest, Macrovesicular hepatic steatosis, Elevated hepatic transaminase... |
OMIM:600649 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619874 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hirsutism, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, G... |
OMIM:612526 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Elevated hepatic transaminase, Long eyelashes, Synophrys, Lethargy, Pulmonary arter... |
OMIM:619064 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Lethargy, Elevated hepatic transaminase |
OMIM:246900 |
Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Loss of gluteal subcutaneous adipose tissue, He... |
ORPHA:280356 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory insufficiency, Hepatomegaly, Respiratory failure, Lethargy |
OMIM:614299 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Pancreatitis, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619386 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Coma, Elevated hepatic transaminase, Distal arthrogryposi... |
ORPHA:42 |
Multiple Symmetric Lipomatosis |
|
Multiple lipomas, Hepatomegaly, Abnormal adipose tissue morphology |
ORPHA:2398 |
Pleural Mesothelioma |
|
Respiratory distress, Hepatomegaly, Cough, Pleural effusion, Dyspnea, Abnormal respiratory system... |
ORPHA:50251 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Lipoatrophy, Pancreatitis, Hepatomegaly, Polycystic ovaries, Hepatic steatosis |
ORPHA:79084 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Hypospadias, Elevated h... |
OMIM:301045 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Coma, Lethargy, Confusion |
OMIM:237310 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction |
ORPHA:141152 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Coma, Pancreatitis, Hepatomegaly, Lethargy |
ORPHA:289916 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Apnea, Coma, Hepatomegaly, Hyperventilation, Dyspnea, Lethargy |
OMIM:229700 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Coma, Hepatomegaly, Delirium, Confusion, Drowsiness, Lethargy, Loss of cons... |
ORPHA:927 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Coma, Pancreatitis, Hepatomegaly, Splenomegaly, Lethargy |
ORPHA:79312 |
Hemochromatosis Type 2 |
|
Abnormality of endocrine pancreas physiology, Congenital hepatic fibrosis, Elevated hepatic trans... |
ORPHA:79230 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure, Lethargy |
OMIM:605711 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypoglycemic coma, Drowsiness, Lethargy, Loss... |
ORPHA:276556 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypoglycemic coma, Focal pancreatic islet hyp... |
ORPHA:276575 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Ventilato... |
ORPHA:254864 |
Retinitis Pigmentosa 59 |
|
Elevated hepatic transaminase, Cryptorchidism, Hepatomegaly, Micropenis |
OMIM:613861 |
Perching Syndrome |
|
Respiratory distress, Flexion contracture, Camptodactyly |
OMIM:617055 |
Glycogen Storage Disease Ixb |
|
Increased hepatic glycogen content, Hepatomegaly |
OMIM:261750 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Systemic Primary Carnitine Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Confusion |
ORPHA:158 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Glut1 Deficiency Syndrome 1 |
|
Confusion, Paroxysmal lethargy, Lethargy |
OMIM:606777 |
Carnitine Palmitoyltransferase I Deficiency |
|
Coma, Hepatomegaly, Elevated hepatic transaminase, Lethargy, Hepatic steatosis, Cardiomegaly |
OMIM:255120 |
Crigler-Najjar Syndrome |
|
Lethargy, Jaundice, Abnormality of the liver |
ORPHA:205 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Respiratory arrest, Tachypnea, Lethar... |
OMIM:201475 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypoglycemic coma, Drowsiness, Lethargy, Loss... |
ORPHA:276580 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Hyperoxemia, Right ventricular hypertrophy, Abnormal respiratory system phy... |
ORPHA:70589 |
Febrile Infection-Related Epilepsy Syndrome |
|
Sinusitis, Lethargy, Cough |
ORPHA:163703 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis |
OMIM:618400 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Umbilical hernia, Pneumonia |
OMIM:254120 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Coma, Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Lethargy, Loss of consciousness |
ORPHA:156 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Coma, Hepatomegaly, Elevated hepatic transaminase, Hepatic steatosis, Lethargy |
OMIM:201450 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Apnea, Hepatomegaly, Left ventricular hypertrophy, Elevated circulating aspartate aminotransferas... |
OMIM:619048 |
Typhoid |
|
Coma, Hepatomegaly, Splenomegaly, Cough, Epistaxis, Lethargy |
ORPHA:99745 |
Alpha-1-Antitrypsin Deficiency |
|
Panacinar emphysema, Chronic pulmonary obstruction, Splenomegaly, Cirrhosis, Hepatocellular carci... |
OMIM:613490 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Confusion, Lethargy, Central apnea |
ORPHA:71277 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Hypoglycemic coma, Drowsiness, Lethargy, Loss of consciousness |
ORPHA:324575 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Respiratory insufficiency, Lethargy |
OMIM:618228 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Hepatomegaly, Chronic pulmonary obstruction, Splenomegaly, Cough, Pulmonary... |
ORPHA:2414 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Nonproductive cough, Pleural empyema, Confusion, Acute infectious pneumonia... |
ORPHA:36238 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy |
ORPHA:79283 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Coma, Pancreatitis, Hepatomegaly, Respiratory insufficiency, Lethargy |
ORPHA:27 |
Acquired Partial Lipodystrophy |
|
Generalized hirsutism, Lipoatrophy, Hepatic steatosis |
ORPHA:79087 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Apnea, Lethargy |
OMIM:618225 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Arthrogryposis multiplex congenita, Apneic episodes precipitated by illness... |
OMIM:254210 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Hepatomegaly, Coma, Episodic tachypnea, Apneic episodes in infancy, Elevate... |
ORPHA:348 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hypogonadism, Hepatic steatosis, Hepatomegaly, Hepatic failure |
OMIM:617872 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Confusion, Lethargy |
OMIM:617900 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Coma, Drowsiness, Pancreatic islet-cell hyperplasia, Lethargy |
ORPHA:276608 |
Developmental And Epileptic Encephalopathy 41 |
|
Flexion contracture, Lethargy |
OMIM:617105 |
Encephalopathy Due To Prosaposin Deficiency |
|
Respiratory insufficiency, Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Galactosemia |
|
Hepatomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Cryptorchidism, Ascites,... |
ORPHA:352 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Generalized hirsutism, Reduced intraabdominal adipose tissue... |
ORPHA:363400 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency, Increased connective tissue |
ORPHA:238329 |
Multiple Carboxylase Deficiency |
|
Respiratory distress, Coma, Alopecia, Tachypnea, Lethargy |
ORPHA:148 |
Citrullinemia Type I |
|
Coma, Hepatic failure, Tachypnea, Lethargy, Loss of consciousness |
ORPHA:247525 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, External genital hypoplasia, Hypogonadism |
OMIM:615993 |
Cirrhosis, Familial |
|
Micronodular cirrhosis, Cirrhosis, Fulminant hepatitis, Pulmonary arterial hypertension, Ascites,... |
OMIM:215600 |
Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy |
ORPHA:622 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy |
OMIM:613710 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Hepatomegaly |
OMIM:614741 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Confusion, Lethargy |
OMIM:613002 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Generalized hirsutism, Pancreatitis, Hepatomegaly, Cellulitis, Splenomegaly, Lipoatrophy, Lipodys... |
ORPHA:2348 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly |
OMIM:610717 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Lethargy, Apneic episodes precipitated by illness, fatigue, stress |
OMIM:312170 |
Idiopathic Congenital Hypothyroidism |
|
Umbilical hernia, Elevated circulating thyroid-stimulating hormone concentration, Lethargy, Prolo... |
ORPHA:95717 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Respiratory insufficiency, Hepatomegaly |
ORPHA:2432 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral pneumonia, Respiratory failure |
OMIM:619773 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
Evans Syndrome |
|
Dyspnea, Epistaxis, Jaundice, Lethargy |
ORPHA:1959 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hepatic failure |
OMIM:261650 |
Methylmalonic Acidemia With Homocystinuria |
|
Lethargy |
ORPHA:26 |
Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Coma, Hepatocellular carcinoma, Confusion, Elevated circulating alanine aminotransf... |
OMIM:603471 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy |
OMIM:618683 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Apnea, Respiratory insufficiency, Lethargy |
OMIM:618226 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Flexion contracture, Lethargy |
OMIM:201470 |
Citrullinemia Type Ii |
|
Fluctuations in consciousness, Pancreatitis, Hepatomegaly, Coma, Hepatocellular carcinoma, Deliri... |
ORPHA:247585 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Elevated hepatic trans... |
OMIM:617156 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased liver function, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:616829 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Decreased liver function, Coma, Hepatomegaly, Confusion, Acute hepatitis, Lethargy |
OMIM:238970 |
Developmental And Epileptic Encephalopathy 92 |
|
Lethargy |
OMIM:617829 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Apnea, Coma, Lethargy |
OMIM:210200 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Respiratory distress, Testicular atrophy, Frontal balding, Hypogonadism, Excessiv... |
OMIM:160900 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... |
OMIM:608600 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Coma, Hepatomegaly, Elevated hepatic transaminase, Cardiorespiratory arrest, Hepatic steatosis, L... |
OMIM:212138 |
Lipe-Related Familial Partial Lipodystrophy |
|
Increased adipose tissue around the neck, Hepatomegaly, Abnormal labia majora morphology, Loss of... |
ORPHA:435660 |
Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Hirsutism, Cirrhosis, Loss of gluteal subcutaneous adipose t... |
OMIM:604367 |
Early Myoclonic Encephalopathy |
|
Lethargy |
ORPHA:1935 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Lipoatrophy, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Thin skin |
ORPHA:261304 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Hepatomegaly |
OMIM:605911 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Elevated hepatic transaminase, Lethargy |
OMIM:610498 |
Glycine Encephalopathy |
|
Lethargy |
OMIM:605899 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:618234 |
Developmental And Epileptic Encephalopathy 40 |
|
Lethargy |
OMIM:617065 |
Classic Galactosemia |
|
Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Cryptorchidism, Ascites, Jaundice, ... |
ORPHA:79239 |
Glycerol Kinase Deficiency |
|
Cryptorchidism, Coma, Lethargy, Loss of consciousness |
OMIM:307030 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Coma, Pancreatitis, Hepatomegaly, Lethargy |
OMIM:251000 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy |
OMIM:274270 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Lethargy, Hepatic failure |
ORPHA:2394 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:605809 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Coma, Alopecia, Tachypnea, Lethargy |
ORPHA:79242 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Decreased liver function, Central sleep apnea, Hypopigmentation of hair, Respiratory failure, Abn... |
ORPHA:70472 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Pparg-Related Familial Partial Lipodystrophy |
|
Generalized hirsutism, Pancreatitis, Hepatomegaly, Lipoatrophy, Splenomegaly, Cirrhosis, Loss of ... |
ORPHA:79083 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Decreased liver function, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:617093 |
Cidec-Related Familial Partial Lipodystrophy |
|
Pancreatitis, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Lipodystrophy, Loss of s... |
ORPHA:435651 |
Gaba-Transaminase Deficiency |
|
Lethargy |
OMIM:613163 |
Lipodystrophy, Familial Partial, Type 4 |
|
Lipodystrophy, Lipoatrophy, Hepatic steatosis |
OMIM:613877 |
Scrub Typhus |
|
Splenomegaly, Cough, Restrictive ventilatory defect, Reduced consciousness/confusion, Dyspnea, Le... |
ORPHA:83317 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Apneic episodes in infancy, Lethargy |
OMIM:610006 |
Propionic Acidemia |
|
Apnea, Coma, Pancreatitis, Hepatomegaly, Tachypnea, Lethargy |
OMIM:606054 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Respiratory insufficiency, Camptodactyly of finger, Restrictive ventilatory... |
OMIM:614399 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Apnea, Lipid accumulation in hepatocytes, Hepatomegaly, Hepatic calcification, Respiratory insuff... |
OMIM:608836 |
Pseudo-Torch Syndrome 2 |
|
Acute respiratory distress syndrome, Hepatomegaly, Respiratory insufficiency, Elevated hepatic tr... |
OMIM:617397 |
Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Oligospermia, Hepatic steatosis |
OMIM:615703 |
Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Wheezing, Cough, Intercostal retractions, Stridor |
ORPHA:137935 |
Congenital Generalized Lipodystrophy |
|
Hypertrichosis, Low anterior hairline, Hepatomegaly, Precocious puberty in females, Cirrhosis, Ov... |
ORPHA:528 |
Malaria |
|
Respiratory distress, Reduced consciousness/confusion |
ORPHA:673 |
Dengue Fever |
|
Hepatomegaly, Cardiorespiratory arrest, Ascites, Epistaxis, Lethargy |
ORPHA:99828 |
Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hirsutism, Hepatom... |
OMIM:151660 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Lipodystrophy, Increased intraabdominal fat, Polycystic ovaries, Hepatic steatosis |
ORPHA:79085 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Decreased liver function, Hepatomegaly, Flexion contracture, Hepatic failur... |
ORPHA:367 |
Severe Canavan Disease |
|
Lethargy |
ORPHA:314911 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase |
OMIM:264470 |
3-Methylglutaconic Aciduria Type 1 |
|
Coma, Hepatomegaly |
ORPHA:67046 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Flexion contracture, Elevated hepatic transaminase, Lipodystrophy, Hypogonadism, Cr... |
OMIM:615381 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress |
OMIM:616341 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Respiratory paralysis, Splenomegaly, Confusion, Jaundice |
OMIM:121300 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Coma, Increased hepatic glycogen content, Elevated hepatic transaminase, Drowsiness... |
ORPHA:263455 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Cholangiocarcinoma, Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic h... |
ORPHA:465508 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... |
ORPHA:140896 |
Interstitial Lung Disease 2 |
|
Cirrhosis, Decreased DLCO, Cough, Dyspnea, Exertional dyspnea, Pulmonary arterial hypertension |
OMIM:178500 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Decreased liver function, Hepatic steatosis, Hepatomegaly, Lethargy |
OMIM:614922 |
Biotinidase Deficiency |
|
Apnea, Hepatomegaly, Alopecia, Splenomegaly, Tachypnea, Lethargy |
OMIM:253260 |
Benign Samaritan Congenital Myopathy |
|
Abnormal respiratory system physiology, Lethargy |
ORPHA:324581 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly |
OMIM:615158 |
Glycogen Storage Disease Vi |
|
Increased hepatic glycogen content, Elevated hepatic transaminase, Hepatomegaly |
OMIM:232700 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress, Delirium, Achilles tendon contracture |
ORPHA:2596 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Coma, Hepatomegaly, Hepatic failure, Respiratory insufficiency, Elevated hepatic transaminase, Su... |
ORPHA:159 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse scalp hair, Hepatomegaly, Sparse eyebrow, Splenomegaly, Sparse eyelashes, Sparse body hair... |
ORPHA:59303 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Coma, Left ventricular hypertrophy, Respiratory insufficiency, Cholestasis, D... |
ORPHA:746 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Breathing dysregulation, Hypoventilation, Lethargy |
OMIM:618232 |
Pyruvate Dehydrogenase Deficiency |
|
Dyspnea, Multiple lipomas, Lethargy, Tachypnea |
ORPHA:765 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Wheezing, T... |
ORPHA:60032 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Splenomegaly, Decreased testicular size, Hypogonadism, Lethargy, Alopecia of scalp |
OMIM:201100 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis, Bradykinesia |
OMIM:614924 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Thyroid Dyshormonogenesis 1 |
|
Goiter, Lethargy, Umbilical hernia |
OMIM:274400 |
Hyperlysinuria With Hyperammonemia |
|
Coma, Lethargy |
OMIM:238750 |
Isolated Polycystic Liver Disease |
|
Polycystic liver disease, Respiratory insufficiency, Hepatomegaly, Abnormality of the pancreas |
ORPHA:2924 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Elevated hepatic transaminase, Congenital contracture, Neonatal respiratory... |
OMIM:615042 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Jaundice, Elevated hepatic transaminase, Ascites, Respiratory failure |
ORPHA:890 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ... |
ORPHA:79301 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Abnormality of the hepatic vasculature, Hepatosplenomegaly, Crackles, Nodular regenerative hyperp... |
ORPHA:210136 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
Methylmalonic Aciduria, Cblb Type |
|
Coma, Hepatomegaly, Respiratory distress, Lethargy |
OMIM:251110 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatomegaly, Coma, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Jaundice |
OMIM:618549 |
Hodgkin Lymphoma |
|
Dyspnea, Hepatomegaly, Cough, Splenomegaly |
ORPHA:98293 |
Patent Ductus Venosus |
|
Decreased liver function, Hepatic steatosis |
OMIM:601466 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly |
ORPHA:882 |
Encephalopathy, Recurrent, Of Childhood |
|
Lethargy |
OMIM:130950 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Choles... |
OMIM:620010 |
African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... |
ORPHA:139507 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Inguinal hernia, Tachypnea, Cryptorchidism, Pulmonary arterial hypertension, Lethargy |
OMIM:614857 |
Acquired Methemoglobinemia |
|
Respiratory distress, Coma, Confusion, Drowsiness, Hypoxemia, Dyspnea, Loss of consciousness |
ORPHA:464453 |
Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Jaundice, Lethargy, Acute hepatic failure |
OMIM:616483 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Hypoxemia, Nonproductive cough, Crackles, Wheezing, Cough, Restrictive vent... |
ORPHA:1302 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Decreased liver function, Cholestasis, Elevated hepatic transaminase, Portal fibrosis, Hepatic st... |
OMIM:614300 |
Insulinoma |
|
Fluctuations in consciousness, Abnormality of the pancreatic islet cells, Coma, Primary hyperpara... |
ORPHA:97279 |
Complete Atrioventricular Septal Defect |
|
Pulmonary venous hypertension, Hepatomegaly, Right ventricular hypertrophy, Crackles, Elevated pu... |
ORPHA:1329 |
Hemochromatosis, Type 4 |
|
Cirrhosis, Hepatic steatosis, Hepatomegaly |
OMIM:606069 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Camptodactyly, Elevated hepatic transaminase, K... |
OMIM:608799 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Generalized hirsut... |
ORPHA:280365 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Hypospadias |
OMIM:300934 |
Methylmalonic Aciduria, Cbla Type |
|
Coma, Hepatomegaly, Respiratory distress, Lethargy |
OMIM:251100 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Crackles, Acute infectious pneumonia, Respiratory failure requiring assiste... |
ORPHA:264675 |
Hemochromatosis Type 4 |
|
Cirrhosis, Hepatic steatosis, Congenital hepatic fibrosis |
ORPHA:139491 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly |
ORPHA:369840 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Bradykinesia |
ORPHA:240085 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Hypogonadism |
OMIM:613313 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Cough, Elevated hepatic transaminase, Restrictive ventilatory defect, Hypopit... |
OMIM:619013 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Hip contracture, Ankle flexion contracture, Respiratory insufficiency, Elbo... |
ORPHA:1145 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... |
OMIM:251880 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Hip contracture, Flexion contracture, Wrist flexion contracture, Elbow flex... |
ORPHA:1143 |
Babesiosis |
|
Hepatomegaly, Coma, Splenomegaly, Hepatic failure, Respiratory insufficiency, Confusion, Cough, J... |
ORPHA:108 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... |
ORPHA:254875 |
Familial Thyroid Dyshormonogenesis |
|
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Prolonged neona... |
ORPHA:95716 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis |
ORPHA:436182 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Hepatic failure, Hepatitis, Emphysema, Jaundice |
ORPHA:60 |
Lipodystrophy, Familial Partial, Type 5 |
|
Lipodystrophy, Hepatic steatosis, Hepatomegaly |
OMIM:615238 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Episodic tachypnea, Tachypnea, Elevated hepatic transaminase,... |
ORPHA:26793 |
Immunodeficiency 48 |
|
Hepatomegaly, Pneumonia, Splenomegaly |
OMIM:269840 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic failure, Cirrhosis, Acute hepatic failur... |
OMIM:278000 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Adrenomyodystrophy |
|
Pituitary corticotropic cell adenoma, Hepatic steatosis |
OMIM:300270 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Precocious puberty, External genital hypoplasia, Small pituitary gland, Micropenis, Central sleep... |
ORPHA:398079 |
Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory insufficiency, Elevated circulating aspartate aminotransferase concentration, Cholest... |
OMIM:609015 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Apnea, Hepatomegaly, Hepatic failure, Elevated circulating alanine aminotransferase concentration... |
OMIM:261680 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Coma, Brittle hair, Dry hair, Elevated circulating aspartate aminotransferase conce... |
OMIM:207900 |
Methylcobalamin Deficiency Type Cble |
|
Abnormality of the liver, Drowsiness, Excessive daytime somnolence, Lethargy, Loss of consciousness |
ORPHA:2169 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Abnormal mucociliary clearance, Bronchiectasis |
OMIM:619466 |
Holocarboxylase Synthetase Deficiency |
|
Coma, Alopecia, Tachypnea, Hyperventilation, Lethargy |
OMIM:253270 |
Infantile Liver Failure Syndrome 1 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Acute hepatic failure |
OMIM:615438 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly |
OMIM:613978 |
Acute Lung Injury |
|
Respiratory distress, Tachypnea, Acute pancreatitis, Pneumonia, Hypoxemia, Dyspnea, Respiratory f... |
ORPHA:178320 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:619868 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cholestasis, Elevated hepatic transaminase, He... |
OMIM:618641 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Bradykinesia, Lethargy |
ORPHA:101150 |
Niemann-Pick Disease, Type B |
|
Dyspnea, Hepatomegaly, Decreased DLCO, Splenomegaly |
OMIM:607616 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Pancreatitis, Hepatomegaly, Hepatic ... |
OMIM:618805 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... |
ORPHA:411703 |
Sialidosis Type 2 |
|
Hepatomegaly, Flexion contracture, Splenomegaly, Inguinal hernia, Umbilical hernia, Dyspnea, Ascites |
ORPHA:87876 |
Avian Influenza |
|
Respiratory distress, Nonproductive cough, Tachypnea, Cough, Elevated hepatic transaminase, Hepat... |
ORPHA:454836 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... |
OMIM:617394 |
Nipah Virus Disease |
|
Respiratory distress, Coma, Cough |
ORPHA:99825 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Apnea, Lipid accumulation in hepatocytes, Hepatomegaly, Coma, Tachypnea, Acute pancreatitis, Elev... |
ORPHA:20 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Multiple lipomas, Biliary tract abnormality, Portal hypert... |
ORPHA:1414 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Hepatic failure, Cirrhosis, Respiratory insufficiency, Elevated circulating asparta... |
OMIM:615486 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenome... |
OMIM:616828 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Reduced forced vital capacity, Cough, Intercostal retractions, Tachypnea, H... |
ORPHA:91359 |
Riboflavin Deficiency |
|
Lethargy |
OMIM:615026 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Lethargy |
OMIM:611590 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Cirrhosis, Macrovesicular ... |
OMIM:256810 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Low anterior hairline, Hepatomegaly, External genital hypoplasia, Elevated ... |
ORPHA:329178 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Coma, Respiratory failure, Lethargy, Tachypnea |
OMIM:615838 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Respiratory distress, Arthrogryposis-like hand anomaly, Paradoxical respiration, Distal arthrogry... |
OMIM:620011 |
Ogden Syndrome |
|
Inguinal hernia, Aplasia/Hypoplasia of the eyebrow, Fine hair, Excessive daytime somnolence, Cryp... |
ORPHA:276432 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Splenomegaly |
OMIM:606445 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Lipodystrophy, Hepatic steatosis |
ORPHA:300536 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Pulmonary arterial hypertension, Camptodactyly |
OMIM:619751 |
Myxedema |
|
Lethargy, Elevated circulating thyroid-stimulating hormone concentration, Goiter |
OMIM:255900 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Ambiguous genitalia, male, Bifid scrotum, Micropenis, Hypospadias, Unilater... |
OMIM:300219 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic failure |
OMIM:616719 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Sleep apnea, Precocious puberty, External genital hypoplasia, Small pituitary gland, Micropenis, ... |
ORPHA:398069 |
Stt3B-Cdg |
|
Respiratory distress, Cryptorchidism, Small scrotum, Micropenis |
ORPHA:370924 |
Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Hepatic steatosis |
ORPHA:209919 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Cough, Tachypnea |
OMIM:263000 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver ... |
OMIM:214900 |
Primary Lipodystrophy |
|
Pancreatitis, Lipoatrophy, Splenomegaly, Cirrhosis, Lipodystrophy, Polycystic ovaries, Hepatic st... |
ORPHA:90970 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Hepatomegaly, Splenomegaly, Alopecia, Cirrhosis, Hypogonadotropic hypogonadis... |
OMIM:235200 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hirsutism, Low anterior hairline, Microvesicular hepatic steatosis, Tachypnea, Increased hepatoce... |
OMIM:220111 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, Hepatic fibrosis, Por... |
OMIM:616278 |
Leukoencephalopathy With Vanishing White Matter |
|
Lethargy |
OMIM:603896 |
Ebola Hemorrhagic Fever |
|
Cough, Acute pancreatitis, Hepatitis, Dyspnea, Lethargy |
ORPHA:319218 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Cryptorchidism, Small scrotum, Micropenis |
OMIM:615597 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carcinoma, Elevated h... |
ORPHA:369 |
Mogs-Cdg |
|
Hydrocele testis, Respiratory distress, Hirsutism, Apnea, Hepatomegaly, Fair hair, External genit... |
ORPHA:79330 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Jaundice, Hypoglycemic coma, Hepatic periportal necrosis, Hep... |
OMIM:231680 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress |
OMIM:604377 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Bradykinesia |
ORPHA:240103 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... |
OMIM:602347 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary... |
OMIM:210500 |
Lipodystrophy, Familial Partial, Type 6 |
|
Lipodystrophy, Hepatic steatosis |
OMIM:615980 |
Hereditary Central Diabetes Insipidus |
|
Lethargy |
ORPHA:30925 |
Wilson Disease |
|
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepa... |
ORPHA:905 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Lethargy |
OMIM:236270 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea, Abnormal sweat gland morphology, Confusion |
ORPHA:247257 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Decreased liver function, Hepatomegaly, Coma, Hepatic failure, Confusion, Tachypnea, Elevated hep... |
ORPHA:415 |
Spinocerebellar Ataxia, X-Linked 3 |
|
Episodic respiratory distress, Episodic hypoventilation, Lethargy |
OMIM:301790 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Hirsutism, Low anterior hairline, Hepatomegaly, Flexion contracture, Spleno... |
OMIM:617303 |
Chanarin-Dorfman Syndrome |
|
Hepatic steatosis, Hepatomegaly, Alopecia |
OMIM:275630 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Polysplenia, Upper airway obstruction, Asplenia |
OMIM:612776 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Ankle flexion contracture, Lethargy |
OMIM:618120 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... |
OMIM:619849 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Hepatic failure, Cholestasis, Elevated hepatic transaminase, Jaundice |
OMIM:618528 |
Maple Syrup Urine Disease |
|
Coma, Pancreatitis, Lethargy |
OMIM:248600 |
3-Methylglutaconic Aciduria, Type V |
|
Hypospadias, Cryptorchidism, Microvesicular hepatic steatosis, Decreased testicular size |
OMIM:610198 |
Central Neurocytoma |
|
Coma, Lethargy |
ORPHA:73256 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Central Diabetes Insipidus |
|
Excessive daytime somnolence, Lethargy |
ORPHA:178029 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia, Decreased response to growth hormone st... |
OMIM:245590 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Cough, Upper airway obstruction, Nodular goiter, Dyspnea, Goiter, Stridor |
ORPHA:142 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress |
ORPHA:91130 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Left ventricular hypertrophy, Flexion contracture |
OMIM:616733 |
Acquired Generalized Lipodystrophy |
|
Generalized hirsutism, Hepatomegaly, Cirrhosis, Generalized lipodystrophy, Acute pancreatitis, Po... |
ORPHA:79086 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Confusion, Elevated hepatic transaminase, Hepatic necrosis, Hepatic steato... |
ORPHA:71212 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Elevated circulating thyroid-stimulating hormone concentration, Umbilical h... |
ORPHA:226313 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Oxygen desaturation on exertion, Asthma, Decreased response to growth hormo... |
OMIM:610978 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Decreased liver function, Hepatomegaly, Increased hepatocellular lipid drop... |
OMIM:220110 |
Cyclic Vomiting Syndrome |
|
Lethargy |
OMIM:500007 |
Hurler-Scheie Syndrome |
|
Generalized hirsutism, Hepatomegaly, Splenomegaly, Hernia, Rhinitis |
ORPHA:93476 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Porphyria Cutanea Tarda |
|
Corneal scarring, Hypertrichosis, Hirsutism, Viral hepatitis, Periportal fibrosis, Chronic hepati... |
ORPHA:101330 |
Diaphanospondylodysostosis |
|
Respiratory distress, Inguinal hernia, Tracheomalacia, Abnormal liver lobulation, Respiratory ins... |
OMIM:608022 |
Familial Nasal Acilia |
|
Respiratory distress, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Dyspnea |
ORPHA:922 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Increased circulating prolactin concentration, Thyro... |
ORPHA:99832 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Lethargy |
ORPHA:2089 |
Galactose Mutarotase Deficiency |
|
Decreased liver function, Hepatomegaly, Cholestasis |
ORPHA:570422 |
Sarcoidosis, Susceptibility To, 2 |
|
Bronchiectasis, Hepatomegaly, Hypoxemia, Splenomegaly, Restrictive ventilatory defect, Emphysema,... |
OMIM:612387 |
Thyroid Lymphoma |
|
Respiratory distress, Upper airway obstruction, Dyspnea, Goiter, Stridor |
ORPHA:97285 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Lethargy |
ORPHA:49827 |
Citrullinemia, Classic |
|
Coma, Cirrhosis, Hepatomegaly, Lethargy |
OMIM:215700 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly |
ORPHA:172 |
Genetic Transient Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasia, Umbilical her... |
ORPHA:226316 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Azoospermia, Hypogonadism, Hepatomegaly, Splenomegaly |
OMIM:615234 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... |
OMIM:619463 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatomegaly, Hepatic failure, Cholestasis, Elevated hepatic transaminase, ... |
ORPHA:79303 |
Dopa-Responsive Dystonia |
|
Lethargy |
ORPHA:255 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hirsutism, Reduced intraabdominal adipose tissue, Hepatomega... |
OMIM:608594 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Left ventricular hypertrophy, Dyspnea, Cough |
ORPHA:86812 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Epistaxis, Wheezing, Jaundice, Intrahepati... |
OMIM:211600 |
Gracile Syndrome |
|
Cirrhosis, Elevated hepatic iron concentration, Hepatic steatosis, Cholestasis |
ORPHA:53693 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Jaundice, Splenomegaly |
OMIM:237800 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Reduced for... |
OMIM:610913 |
Isovaleric Acidemia |
|
Coma, Lethargy |
OMIM:243500 |
Necrotizing Enterocolitis |
|
Apnea, Peritonitis, Ascites, Lethargy |
ORPHA:391673 |
Nephronophthisis 19 |
|
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation |
OMIM:616217 |
Meningococcal Meningitis |
|
Neonatal respiratory distress, Lethargy, Drowsiness, Reduced consciousness/confusion |
ORPHA:33475 |
Dihydropyrimidinase Deficiency |
|
Excessive daytime somnolence, Lethargy |
OMIM:222748 |
Alpha-Heavy Chain Disease |
|
Alopecia, Ascites, Hepatomegaly, Splenomegaly |
ORPHA:100025 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Macrovesicular hepatic steatosis, Cholestasis, Acute hepatic steatosis, Hepatitis, Cholesterol ga... |
ORPHA:209902 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Jaundice |
ORPHA:75234 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transami... |
ORPHA:567983 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Thick eyebrow, Hepatomegaly, Flexion contracture, Facial hirsutism |
OMIM:619383 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis |
OMIM:615918 |
Idiopathic Intracranial Hypertension |
|
Lethargy |
ORPHA:238624 |
Dpm1-Cdg |
|
Hepatomegaly, External genital hypoplasia, Hepatosplenomegaly, Camptodactyly, Elevated hepatic tr... |
ORPHA:79322 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepatitis,... |
OMIM:613812 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Cholestasis, Hepatocellular aden... |
ORPHA:370 |
Susac Syndrome |
|
Confusion, Lethargy |
ORPHA:838 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating asparta... |
OMIM:614921 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Ele... |
OMIM:619232 |
Tularemia |
|
Respiratory distress, Confusion, Cough, Pleural effusion, Pneumonia |
ORPHA:3392 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Hypoxemia, Aspiration pneumonia, Wheezing, Pneumothorax, Neonatal asphyxia,... |
ORPHA:70588 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Multiple joint contractures, Central sleep apnea, Alopecia, Hypergonado... |
ORPHA:2959 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Laryngeal Web, Familial |
|
Respiratory distress, Stridor |
OMIM:150360 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Congenital diaphragmatic hernia, Hypoxemia |
ORPHA:2140 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Sparse hair, Woolly hair, Brittle hair, Cirrhosis, Chronic hepatitis, Trichorrhexis... |
OMIM:614602 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Lethargy, Tachypnea |
OMIM:615751 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Lethargy |
OMIM:233910 |
Slc35A1-Cdg |
|
Respiratory distress, Hypoxemia, Cellulitis, Pneumonia |
ORPHA:238459 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Pneumonia, Respiratory failure requiring assisted ventilation |
ORPHA:596 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hirsutism, Reduced intraabdominal adipose tissue, Hepatomega... |
OMIM:269700 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cryptorchidism, Hepatomegaly |
OMIM:613730 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Hepatomegaly, Left ventri... |
ORPHA:308552 |
Mercury Poisoning |
|
Respiratory distress, Interstitial pneumonitis, Confusion, Dyspnea, Respiratory failure, Loss of ... |
ORPHA:330021 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Jaundice |
OMIM:613977 |
Hereditary Fructose Intolerance |
|
Coma, Hepatomegaly, Chronic hepatic failure, Jaundice, Lethargy |
ORPHA:469 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Tachypnea, Cough, Drowsiness, Polycystic ovaries, Cardiomegaly, Lethargy, Loss of c... |
ORPHA:137675 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Hypoplastic spleen |
ORPHA:89844 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Hirsutism, Pituitary adenoma, Alopecia, Testicular neoplasm, Adrenal hyperplasia, Elevated hepati... |
ORPHA:189439 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Increased circulating prolactin concentration, Thyro... |
ORPHA:90674 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
Liver Failure, Infantile, Transient |
|
Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Macrovesicular hepatic ste... |
OMIM:613070 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase concentration, Sclerosin... |
OMIM:619662 |
Combined D-2- And L-2-Hydroxyglutaric Aciduria |
|
Stridor, Dyspnea, Respiratory insufficiency, Hepatomegaly |
OMIM:615182 |
Moebius Syndrome |
|
Respiratory distress, Micropenis, Hypogonadotropic hypogonadism, Camptodactyly, Arthrogryposis mu... |
OMIM:157900 |
Sialuria |
|
Sleep apnea, Generalized hirsutism, Hepatomegaly, Inguinal hernia, Splenomegaly, Hypoplastic nipp... |
OMIM:269921 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Decreased liver function, Hepatomegaly, Diffuse hepatic steatosis, Excessive daytime somnolence, ... |
ORPHA:436271 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Cholestasis, Splenomegaly |
OMIM:105200 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasia, Umbilical her... |
ORPHA:90673 |
Immunodeficiency 54 |
|
Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, Respiratory insufficiency, Respir... |
OMIM:609981 |
Visceral Steatosis, Congenital |
|
Coma, Hepatic steatosis, Jaundice, Lethargy |
OMIM:228100 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Apnea, Coma, Hepatomegaly, Splenomegaly, Hepatic failure, Hypospadias, Respiratory insufficiency,... |
OMIM:252010 |
Gaucher Disease, Type Ii |
|
Apnea, Recurrent aspiration pneumonia, Hepatomegaly, Splenomegaly |
OMIM:230900 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Hepatomegaly, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Art... |
OMIM:608013 |
Beta-Thalassemia |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, Respiratory insufficie... |
ORPHA:848 |
Hypercalcemia, Infantile, 1 |
|
Lethargy |
OMIM:143880 |
Alstrom Syndrome |
|
Asthma, Chronic active hepatitis, Hepatomegaly, Decreased response to growth hormone stimulation ... |
OMIM:203800 |
Triosephosphate Isomerase Deficiency |
|
Cholelithiasis, Respiratory distress, Splenomegaly, Respiratory insufficiency, Cholecystitis, Res... |
OMIM:615512 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Crackles, Cough, Restrictive ventilatory defect, Dyspnea, Respi... |
ORPHA:99931 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Alopecia, Hyperventilation, Lethargy |
ORPHA:79241 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Hypoxemia, Tachypnea, Cough, Neonatal respiratory distress, Nonspeci... |
OMIM:610921 |
Leigh Syndrome With Cardiomyopathy |
|
Fluctuations in consciousness, Decreased liver function, Hypertrichosis, Apnea, Respiratory distr... |
ORPHA:70474 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Ambiguous genitalia, Respiratory failure, Omphalocele |
OMIM:617895 |
19P13.12 Microdeletion Syndrome |
|
Generalized hirsutism, Precocious puberty, Hypospadias, Synophrys, Arthrogryposis multiplex conge... |
ORPHA:254346 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Hepatocellular adenoma, Elevated hepatic tran... |
ORPHA:264580 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Dyspnea, Pulmonary arterial hypertension, Hepatomegaly |
ORPHA:422 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Bradykinesia, Left ventricular hypertrophy, Respiratory insufficiency, Elevated hepatic transamin... |
ORPHA:254892 |
Transaldolase Deficiency |
|
Decreased liver function, Asthma, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cirrhosis, ... |
OMIM:606003 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Immotile cilia |
OMIM:606763 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans... |
OMIM:613027 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Coma, Lethargy |
OMIM:237300 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
Isolated Complex I Deficiency |
|
Respiratory insufficiency, Hepatomegaly, Lethargy |
ORPHA:2609 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hirsutism, Hepatomegaly, Flexion contracture, Splenomegaly, Elevated hepatic transaminase, Lipody... |
OMIM:613327 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Giant cell hepatitis, Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Intrahepatic ... |
OMIM:214950 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Weakness of muscles of respiration, Hepatic steatosis |
ORPHA:52430 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Hypertrichosis, Low anterior hairline, Congenital, generalized hypertrichos... |
ORPHA:363705 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly |
OMIM:603902 |
Thoraco-Abdominal Enteric Duplication |
|
Respiratory insufficiency, Camptodactyly of finger, Hepatomegaly |
ORPHA:1759 |
Lymphoid Interstitial Pneumonia |
|
Pulmonary venous hypertension, Hepatomegaly, Hypoxemia, Crackles, Enlarged kidney, Wheezing, Decr... |
ORPHA:79128 |
Q Fever |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Cholecystitis, Cough, Eleva... |
ORPHA:781 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality |
ORPHA:234 |
Fructose Intolerance, Hereditary |
|
Hepatomegaly, Jaundice, Coma, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Lethargy |
OMIM:229600 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic tr... |
OMIM:607765 |
Autoimmune Hepatitis |
|
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... |
ORPHA:2137 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory insufficiency, Nocturnal hypoventilation, Dyspnea, Stridor |
OMIM:211530 |
Congenital Enterovirus Infection |
|
Respiratory distress, Hepatic failure, Cholestasis, Hepatitis, Pleural effusion, Fetal ascites |
ORPHA:292 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Upper airway obstruction |
ORPHA:100057 |
Nasolacrimal Duct Cyst |
|
Episodic respiratory distress, Cellulitis, Intercostal retractions, Abnormal breath sound, Paroxy... |
ORPHA:141083 |
Mucopolysaccharidosis, Type Iiia |
|
Hirsutism, Hepatomegaly, Inguinal hernia, Splenomegaly, Coarse hair, Synophrys, Umbilical hernia |
OMIM:252900 |
Farber Disease |
|
Respiratory distress, Flexion contracture, Hepatic failure, Hepatosplenomegaly, Respiratory insuf... |
ORPHA:333 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Elevated hepatic transaminase, Elevate... |
OMIM:616860 |
Cimdag Syndrome |
|
Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly, Lipodystrophy, Hypogonadism |
OMIM:619273 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hepatic failure |
ORPHA:228305 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Absent eyebrow, Thin eyebrow, Clitoral hypertrophy, Dyspnea, Respiratory fa... |
ORPHA:2707 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Interm... |
OMIM:601847 |
Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Hepatomegaly, Dyspnea, Ascites, Cardiomegaly |
OMIM:115197 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Prominent scrotal raphe, Respiratory distress, Bifid scrotum, Abnormality of the pancreas, Umbili... |
ORPHA:1555 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Inguinal hernia, Flexion contracture |
ORPHA:544503 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Micropenis, Left ventricular hypertrophy, Hepatosplenomegaly, Acute pancreatitis, E... |
OMIM:619487 |
Cholera |
|
Aspiration pneumonia, Tachypnea, Hyperventilation, Lethargy, Loss of consciousness |
ORPHA:173 |
Cystic Echinococcosis |
|
Asthma, Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Ovarian cyst, Pe... |
ORPHA:400 |
Pearson Marrow-Pancreas Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Pancreatic fibrosis, Elevated h... |
OMIM:557000 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Intermittent jaundice, Pancreatitis, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice |
OMIM:243300 |
Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Supernumerary nipple, Micropenis, Cryptorchidism, Pulmonary arterial hypert... |
ORPHA:2519 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Hypospadias, Pulmonary arterial hypertension, Inguinal hernia |
OMIM:619272 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Asthma, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Allergic rhinitis, Jaundice |
OMIM:612714 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatic necrosis, Hepatic steatosis, Fulminant hepatic failure |
OMIM:231530 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hepatic steatosis, Pancreatitis, Brittle hair, Inguinal hernia |
OMIM:236200 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Cholelithiasis, Hepatomegaly, Jaundice, Intrahepatic cholestasis |
OMIM:605479 |
Immunodeficiency 47 |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Accessory spleen, Eleva... |
OMIM:300972 |
Hurler-Scheie Syndrome |
|
Hirsutism, Hepatomegaly, Inguinal hernia, Splenomegaly, Contracture of the distal interphalangeal... |
OMIM:607015 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Respiratory distress, Hepatomegaly, Splenomegaly |
OMIM:612852 |
Tetanus |
|
Respiratory distress, Coma, Tachypnea |
ORPHA:3299 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Sparse hair, Alopecia, Sparse eyelashes, Enamel hypoplasia, Cholangitis, Thick hair... |
OMIM:607626 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Acute hepatic failure, Splenomegaly, Cirrhosis, Peritonitis, Cholecystitis, Elevate... |
ORPHA:131 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Coma, Confusion, Lethargy |
OMIM:607483 |
Encephalitis Lethargica |
|
Hyperventilation, Coma, Lethargy |
ORPHA:83600 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Reduced number of intrahepatic bile ducts, Lethargy |
ORPHA:79284 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Cellulitis, Peritonitis, Confusion, Tachypnea, Hepatitis, Fascii... |
ORPHA:36234 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Hypergonadotropic hypogonadism, Cirrhosis, Hypogonadotropic hypogonadism, Macrovesicular hepatic ... |
ORPHA:298 |
Odontochondrodysplasia |
|
Respiratory distress, Dentinogenesis imperfecta |
ORPHA:166272 |
Caroli Disease |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated ... |
ORPHA:53035 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Jaundice, Confusion, Prolonged neonatal jaundice |
OMIM:274150 |
Glutaric Acidemia Type 3 |
|
Lethargy |
ORPHA:35706 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Hepatic steatosis, Recurrent pneumonia, Flexion contracture |
OMIM:616271 |
Hypermanganesemia With Dystonia 1 |
|
Decreased liver function, Hepatomegaly, Bradykinesia, Cirrhosis, Elevated hepatic transaminase |
OMIM:613280 |
Prolidase Deficiency |
|
Asthma, Hepatomegaly, Facial hirsutism, Splenomegaly, Elevated circulating aspartate aminotransfe... |
OMIM:170100 |
Mucopolysaccharidosis, Type Ii |
|
Asthma, Hypertrichosis, Airway obstruction, Hepatomegaly, Sleep apnea, Flexion contracture, Splen... |
OMIM:309900 |
Nocardiosis |
|
Respiratory distress, Emphysema, Cellulitis, Nonproductive cough, Peritonitis, Pneumothorax, Prod... |
ORPHA:31204 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress |
OMIM:618426 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Low posterior hairline, Congenital diaphragmatic hernia, Sparse eyebrow |
OMIM:606164 |
Infant Acute Respiratory Distress Syndrome |
|
Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring |
ORPHA:70587 |
Wilson Disease |
|
Hypoparathyroidism, Hepatomegaly, Coma, Hepatic failure, Splenomegaly, Cirrhosis, Acute hepatic f... |
OMIM:277900 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Micronodular cirrhosis, Alopecia, Elevated hepatic transaminase, Hepatic steatosis |
ORPHA:98907 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Sleep apnea, Right ventricular hypertrophy, Respiratory insufficiency, Neon... |
ORPHA:98915 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Hypertrichosis, Flexion contracture |
OMIM:271225 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Delirium, Pulmonary embolism, Pulmonary arterial hypertension, Jaundice, Le... |
ORPHA:79282 |
Congenital Tracheomalacia |
|
Apnea, Tracheomalacia, Decreased peak expiratory flow, Respiratory insufficiency, Neonatal respir... |
ORPHA:95430 |
Meckel Syndrome, Type 3 |
|
Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate |
OMIM:607361 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Flexion contracture, Splenomegaly, Generalized lipodystrophy, Panniculitis |
OMIM:619183 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, Intrahepatic cholesta... |
OMIM:235555 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Coma, Hepatic failure, Hepatic calcification, Neonatal respiratory distress, Hepati... |
ORPHA:228308 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Apnea, Aspiration pneumonia, Recurrent pneumonia, Hypoventilation, Sparse l... |
ORPHA:314655 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Decreased liver function, Hypoparathyroidism, Hepatomegaly, Splenomegaly, Cirrhos... |
ORPHA:231222 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent nipple, Respiratory distress, Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse body h... |
OMIM:305100 |
Brain-Lung-Thyroid Syndrome |
|
Hypoparathyroidism, Respiratory distress, Asthma, Thyroid dysgenesis, Hypospadias, Elevated circu... |
ORPHA:209905 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transaminase, Hepatic fibrosis... |
ORPHA:541423 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Cardiorespiratory arrest, Apnea, Lethargy |
OMIM:608643 |
Bronchial Neuroendocrine Tumor |
|
Asthma, Elevated circulating growth hormone concentration, Hepatomegaly, Hepatic failure, Nonprod... |
ORPHA:97287 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Tracheomalacia, Hypospadias, Hernia, Neonatal respiratory distress, Cryptor... |
OMIM:217980 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Coma, Nonproductive cough, Fulminant hepatitis, Confusion, Crackles, Elevat... |
ORPHA:319213 |
Pediatric Hepatocellular Carcinoma |
|
Hepatic fibrosis, Hepatomegaly, Hepatic necrosis |
ORPHA:33402 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Adrenocorticotropic hormone deficiency, Pituitary adenoma, Hepatitis, Lethargy |
ORPHA:199299 |
Cryptococcosis |
|
Respiratory distress, Prostatitis, Cirrhosis, Peritonitis, Cough, Pneumonia, Pleural effusion, Dy... |
ORPHA:1546 |
Joubert Syndrome With Hepatic Defect |
|
Apnea, Neoplasm of the liver, Hepatomegaly, Inguinal hernia, Splenomegaly, Intrahepatic biliary a... |
ORPHA:1454 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hepatic steatosis, Increased hepatocellular lipid droplets |
ORPHA:71 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Coma, Lethargy, Alopecia |
OMIM:210210 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Flexion contracture, Pancreatic fibrosis, Hepatic fibrosis, Shawl scrotum, Hepatic ... |
OMIM:616263 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Coma, Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate... |
OMIM:311250 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Exocrine pancreatic insufficiency, Hepatomegaly, Elevated hepatic transamin... |
OMIM:260400 |
Lysinuric Protein Intolerance |
|
Pancreatitis, Hepatomegaly, Hepatic amyloidosis, Hepatic failure, Decreased response to growth ho... |
ORPHA:470 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Respiratory distress, Respiratory insufficiency due to muscle weakness, Sleep apnea, Hepatomegaly... |
ORPHA:365 |
3-Methylglutaconic Aciduria Type 7 |
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Pneumothorax, Elevated hepatic transaminase, Hepatic steatosis, Respiratory failure |
ORPHA:445038 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Respiratory distress, Hypertrichosis, Airway obstruction, Flexion contracture, Hepatosplenomegaly... |
ORPHA:505248 |
Sepsis In Premature Infants |
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Decreased liver function, Hepatomegaly, Splenomegaly, Abnormal respiratory system physiology, Abn... |
ORPHA:90051 |
Adrenomyodystrophy |
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Hepatic steatosis |
ORPHA:977 |
Meier-Gorlin Syndrome 1 |
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Respiratory distress, Joint contracture of the hand, Flexion contracture, Micropenis, Camptodacty... |
OMIM:224690 |
Aromatase Deficiency |
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Generalized hirsutism, Ambiguous genitalia, female, Hypergonadotropic hypogonadism, Macroorchidis... |
ORPHA:91 |
Chitayat Syndrome |
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Respiratory distress, Tracheomalacia |
OMIM:617180 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
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Hirsutism, Pituitary adenoma, Alopecia, Primary hyperparathyroidism, Macronodular adrenal hyperpl... |
ORPHA:189427 |
Griscelli Syndrome Type 2 |
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Hepatomegaly, Splenomegaly, Hypopigmentation of hair, Premature graying of hair, Jaundice |
ORPHA:79477 |
Developmental And Epileptic Encephalopathy 68 |
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Respiratory distress, Flexion contracture |
OMIM:618201 |
Primary Hepatic Neuroendocrine Carcinoma |
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