Von Willebrand Disease, X-Linked Form |
|
Prolonged bleeding time |
OMIM:314560 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Athrombia, Essential |
|
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion |
OMIM:209050 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time |
OMIM:177820 |
Tatsumi Factor Deficiency |
|
Prolonged bleeding time |
OMIM:272650 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Pallor |
ORPHA:79283 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Splenoportal Vascular Anomalies |
|
Cirrhosis, Splenomegaly, Hepatic fibrosis, Anomalous splenoportal venous system |
OMIM:271500 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... |
OMIM:600803 |
Benign Paroxysmal Torticollis Of Infancy |
|
Apathy, Pallor |
ORPHA:71518 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Glanzmann Thrombasthenia 2 |
|
Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ... |
OMIM:619267 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
Porphyria Cutanea Tarda, Type I |
|
Hepatic fibrosis |
OMIM:176090 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis |
OMIM:616719 |
Fadd-Related Immunodeficiency |
|
Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
Hemochromatosis, Neonatal |
|
Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H... |
OMIM:231100 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis |
OMIM:613313 |
Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ... |
OMIM:615888 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Periportal fibrosis |
OMIM:213010 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin... |
OMIM:613759 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Cirrhosis, Hepato... |
ORPHA:369 |
Platelet Glycoprotein Iv Deficiency |
|
Prolonged bleeding time |
OMIM:608404 |
Retinitis Pigmentosa 89 |
|
Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly |
OMIM:618955 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleed... |
OMIM:202400 |
Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis |
ORPHA:33402 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy |
OMIM:618683 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... |
ORPHA:139507 |
Neonatal Hemochromatosis |
|
Congenital hepatic fibrosis, Prolonged neonatal jaundice |
ORPHA:446 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Portal fibrosis, Hepatic fibrosis |
OMIM:619111 |
Bleeding Disorder, Platelet-Type, 11 |
|
Impaired collagen-induced platelet aggregation, Prolonged bleeding time, Ecchymosis, Impaired ris... |
OMIM:614201 |
Bleeding Disorder, Platelet-Type, 14 |
|
Prolonged bleeding time, Ecchymosis |
OMIM:614158 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ... |
OMIM:619902 |
Thyroid Dyshormonogenesis 1 |
|
Lethargy, Dry skin |
OMIM:274400 |
Glut1 Deficiency Syndrome 1 |
|
Lethargy, Paroxysmal lethargy |
OMIM:606777 |
Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy |
ORPHA:622 |
Glanzmann Thrombasthenia 1 |
|
Prolonged bleeding time, Purpura, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced ... |
OMIM:273800 |
Glanzmann Thrombasthenia |
|
Prolonged bleeding time, Purpura, Impaired thrombin-induced platelet aggregation, Impaired ADP-in... |
ORPHA:849 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy |
OMIM:613710 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Lethargy |
OMIM:617900 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:278000 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis |
OMIM:232400 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly |
ORPHA:466794 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
Methylmalonic Acidemia With Homocystinuria |
|
Lethargy |
ORPHA:26 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation |
OMIM:613112 |
Evans Syndrome |
|
Lethargy, Pallor, Petechiae |
ORPHA:1959 |
Developmental And Epileptic Encephalopathy 92 |
|
Lethargy |
OMIM:617829 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy |
OMIM:613002 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Neonatal death, Congestive heart failure |
OMIM:301021 |
Platelet Disorder, Undefined |
|
Prolonged bleeding time, Impaired platelet aggregation |
OMIM:173420 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Lethargy |
OMIM:618224 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Lethargy, Pallor |
ORPHA:276608 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hepatic fibrosis |
ORPHA:280356 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate |
OMIM:607361 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Lethargy, Pallor |
OMIM:613561 |
Infantile Liver Failure Syndrome 2 |
|
Lethargy, Prolonged prothrombin time |
OMIM:616483 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy... |
OMIM:619897 |
Lethal Infantile Mitochondrial Myopathy |
|
Lethargy |
ORPHA:254857 |
Early Myoclonic Encephalopathy |
|
Lethargy |
ORPHA:1935 |
Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy |
ORPHA:163703 |
Developmental And Epileptic Encephalopathy 40 |
|
Lethargy |
OMIM:617065 |
Cyclic Vomiting Syndrome |
|
Lethargy, Pallor |
OMIM:500007 |
Gaba-Transaminase Deficiency |
|
Lethargy |
OMIM:613163 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Stillbirth, Hepati... |
OMIM:615415 |
Glycine Encephalopathy 1 |
|
Lethargy |
OMIM:605899 |
Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy |
OMIM:274270 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Lethargy, Pallor |
ORPHA:49827 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Lethargy, Redundant neck skin |
OMIM:610498 |
Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Hepatic fibrosis, Hepatosplenomegaly |
OMIM:619858 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Aplasia Cutis Congenita |
|
Prolonged bleeding time, Skin ulcer |
ORPHA:1114 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Hyperlysinuria With Hyperammonemia |
|
Lethargy |
OMIM:238750 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Stuve-Wiedemann Syndrome 2 |
|
Eczema, Congestive heart failure, Death in adolescence, Stillbirth, Neonatal death, Pulmonary art... |
OMIM:619751 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Abnormality of endocrine pancreas phy... |
ORPHA:79230 |
Mpi-Cdg |
|
Hepatomegaly, Hepatic fibrosis, Decreased liver function, Portal hypertension |
ORPHA:79319 |
Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Lethargy |
ORPHA:26792 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Lethargy, Pallor |
ORPHA:276556 |
Severe Canavan Disease |
|
Lethargy |
ORPHA:314911 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Hepatic failure |
OMIM:615630 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... |
ORPHA:30391 |
Senior-Loken Syndrome |
|
Congenital hepatic fibrosis |
ORPHA:3156 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Hepatic fibrosis, Portal hypertension |
OMIM:616589 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis |
OMIM:619484 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Lethargy, Pallor |
ORPHA:276575 |
Hereditary Central Diabetes Insipidus |
|
Lethargy |
ORPHA:30925 |
Riboflavin Deficiency |
|
Lethargy |
OMIM:615026 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Lethargy |
ORPHA:71277 |
Joubert Syndrome 9 |
|
Hepatic fibrosis |
OMIM:612285 |
X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Lethargy, Pallor |
OMIM:611590 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Lethargy, Pallor |
ORPHA:276580 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... |
OMIM:263200 |
Nephronophthisis 16 |
|
Periportal fibrosis, Cholestasis |
OMIM:615382 |
Central Neurocytoma |
|
Lethargy, Depression |
ORPHA:73256 |
N-Acetylglutamate Synthase Deficiency |
|
Lethargy |
OMIM:237310 |
Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Lethargy, Pallor |
ORPHA:324575 |
Transaldolase Deficiency |
|
Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Hepatic fibrosis, Decreas... |
OMIM:606003 |
Factor V Deficiency |
|
Prolonged bleeding time, Prolonged prothrombin time |
OMIM:227400 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Hepatic fibrosis, Portal hypertension |
OMIM:617341 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Lethargy |
ORPHA:28 |
Central Diabetes Insipidus |
|
Lethargy, Depression |
ORPHA:178029 |
Senior-Loken Syndrome 9 |
|
Hepatic fibrosis, Cholestasis |
OMIM:616629 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy |
OMIM:610006 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Lethargy |
OMIM:246900 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Benign Samaritan Congenital Myopathy |
|
Lethargy |
ORPHA:324581 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic failure, Hepatic fibrosis, Cirrhosis |
OMIM:602579 |
Dihydropyrimidinase Deficiency |
|
Lethargy |
OMIM:222748 |
Idiopathic Intracranial Hypertension |
|
Lethargy, Depression |
ORPHA:238624 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Lethargy |
OMIM:618225 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Hepatic fibrosis,... |
OMIM:216360 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Bradykinesia, Lethargy |
ORPHA:101150 |
Crigler-Najjar Syndrome |
|
Lethargy |
ORPHA:205 |
Laurence-Moon Syndrome |
|
Congenital hepatic fibrosis |
ORPHA:2377 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Pallor |
ORPHA:3226 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
OMIM:251880 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Hepatic fibrosis, Hepatic steatosis |
ORPHA:79322 |
Hemochromatosis, Type 2A |
|
Lethargy |
OMIM:602390 |
Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
Tay-Sachs Disease |
|
Apathy, Pallor |
OMIM:272800 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating aspartate ami... |
OMIM:300972 |
Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Lethargy |
OMIM:618228 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
Pontocerebellar Hypoplasia, Type 6 |
|
Lethargy |
OMIM:611523 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Lethargy |
OMIM:603896 |
Budd-Chiari Syndrome |
|
Cirrhosis, Hepatocellular carcinoma |
OMIM:600880 |
Bernard-Soulier Syndrome |
|
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation, Purpura |
OMIM:231200 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Cholangiocarcinoma, Portal hy... |
ORPHA:171 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Cholestasis, P... |
ORPHA:264580 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts |
OMIM:612284 |
Storage Pool Platelet Disease |
|
Prolonged bleeding time |
OMIM:185050 |
Mednik Syndrome |
|
Cirrhosis, Hepatic fibrosis, Neonatal death, Cholestasis |
OMIM:609313 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Lethargy |
OMIM:619386 |
Susac Syndrome |
|
Lethargy, Apathy |
ORPHA:838 |
Thrombocytopenia, Paris-Trousseau Type |
|
Prolonged bleeding time |
OMIM:188025 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... |
ORPHA:84081 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Lethargy |
OMIM:312170 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Lethargy |
OMIM:618226 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Primary Biliary Cholangitis |
|
Portal hypertension, Jaundice, Hepatitis, Biliary cirrhosis, Abnormal intrahepatic bile duct morp... |
ORPHA:186 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice... |
OMIM:617093 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Bradykinesia, Pallor, Depression |
ORPHA:13 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hepatic fibrosis, Hepatic failure... |
ORPHA:541423 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Lethargy |
OMIM:233910 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Lethargy |
OMIM:618120 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Lethargy |
OMIM:619064 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Lethargy |
OMIM:236270 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Hepatic fibros... |
ORPHA:79240 |
Acquired Purpura Fulminans |
|
Shock, Skin rash, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal ... |
ORPHA:49566 |
Idiopathic Congenital Hypothyroidism |
|
Lethargy |
ORPHA:95717 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ... |
OMIM:155100 |
Dravet Syndrome |
|
Bradykinesia, Pallor |
ORPHA:33069 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Periportal fibrosis, Hepatic steatosis, Hepatocellular necrosis |
OMIM:201475 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Lethargy |
OMIM:250620 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Lethargy, Dry skin, Perianal erythema, Perioral erythema |
OMIM:201100 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Hepatic ... |
ORPHA:247585 |
Hypercalcemia, Infantile, 1 |
|
Lethargy |
OMIM:143880 |
Isovaleric Acidemia |
|
Lethargy |
OMIM:243500 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Lethargy |
ORPHA:289916 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Portal inflammation, Ch... |
ORPHA:101330 |
Donohue Syndrome |
|
Hepatic fibrosis, Pancreatic islet-cell hyperplasia, Cholestasis |
OMIM:246200 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Tachycardia, Internal hemorrhage, Prolonged prothrombin time, Gingival bleedin... |
ORPHA:335 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Lethargy, Dry skin, Depression |
ORPHA:99832 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Lethargy |
OMIM:618232 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Pallor |
OMIM:615631 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Apathy, Pallor |
OMIM:246450 |
Childhood Absence Epilepsy |
|
Pallor, Depression |
ORPHA:64280 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Portal fibrosis, Hepatic fibrosis, Prolonged neona... |
OMIM:619377 |
Prothrombin Deficiency, Congenital |
|
Prolonged bleeding time, Prolonged prothrombin time, Ecchymosis |
OMIM:613679 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Lethargy |
OMIM:600649 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hepatosplen... |
OMIM:619487 |
Glutaric Acidemia Type 3 |
|
Lethargy |
ORPHA:35706 |
Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis |
OMIM:610688 |
Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
Developmental And Epileptic Encephalopathy 41 |
|
Lethargy |
OMIM:617105 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Lethargy |
ORPHA:2394 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Hepati... |
OMIM:610199 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Lethargy |
ORPHA:79312 |
Beta-Thalassemia |
|
Pallor, Skin ulcer |
ORPHA:848 |
Classic Galactosemia |
|
Lethargy, Depression |
ORPHA:79239 |
Dominant Beta-Thalassemia |
|
Hypersplenism, Splenomegaly, Jaundice, Chronic hepatitis, Hepatosplenomegaly, Hepatic fibrosis, C... |
ORPHA:231226 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Lethargy, Pallor |
ORPHA:263455 |
Meningococcal Meningitis |
|
Lethargy, Petechiae, Purpura |
ORPHA:33475 |
Hb Bart'S Hydrops Fetalis |
|
Pallor |
ORPHA:163596 |
Leishmaniasis |
|
Pallor, Skin ulcer |
ORPHA:507 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Prolonged prothrombin time, Hepatic fibrosis, Hepati... |
OMIM:212065 |
Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
Multifocal Atrial Tachycardia |
|
Lethargy |
ORPHA:3282 |
Dengue Fever |
|
Lethargy, Petechiae |
ORPHA:99828 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Lethargy |
OMIM:238970 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90037 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Congenital hepatic fibrosis, Sp... |
ORPHA:1454 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenital hepatic fib... |
ORPHA:731 |
Citrullinemia Type I |
|
Lethargy |
ORPHA:247525 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Lethargy |
ORPHA:27 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Lethargy |
ORPHA:2089 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis |
OMIM:263210 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis |
OMIM:615895 |
Beta-Thalassemia Major |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Jaundice, Hepatosplenomegaly, Hepatic fibrosis, Cirrho... |
ORPHA:231214 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Lethargy |
ORPHA:927 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Lethargy, Prolonged prothrombin time, Apathy, Pallor |
ORPHA:20 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Prolonged bleeding time, Petechiae |
OMIM:314050 |
Primary Myelofibrosis |
|
Ecchymosis, Pallor, Petechiae, Purpura |
ORPHA:824 |
Bardet-Biedl Syndrome |
|
Hepatic fibrosis |
ORPHA:110 |
Typhoid |
|
Lethargy |
ORPHA:99745 |
Carnitine Deficiency, Systemic Primary |
|
Lethargy |
OMIM:212140 |
Aceruloplasminemia |
|
Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis, Elevated hepatic iron concentration |
ORPHA:48818 |
Congenital Heart Block |
|
Pallor |
ORPHA:60041 |
Nephronophthisis 3 |
|
Hepatic fibrosis |
OMIM:604387 |
Hardikar Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hy... |
OMIM:301068 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Lethargy |
ORPHA:42 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Lethargy |
ORPHA:156 |
Ogden Syndrome |
|
Lethargy, Cutis laxa |
ORPHA:276432 |
Farber Disease |
|
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Hepatosplenomegal... |
ORPHA:333 |
Pyruvate Dehydrogenase Deficiency |
|
Lethargy |
ORPHA:765 |
Pseudo-Torch Syndrome 2 |
|
Lethargy, Petechiae |
OMIM:617397 |
Isolated Atp Synthase Deficiency |
|
Lethargy |
ORPHA:254913 |
Bleeding Disorder, Platelet-Type, 17 |
|
Prolonged bleeding time, Impaired collagen-induced platelet aggregation, Ecchymosis, Petechiae, I... |
OMIM:187900 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Lethargy |
OMIM:614299 |
Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
Gray Platelet Syndrome |
|
Impaired collagen-induced platelet aggregation, Prolonged bleeding time, Impaired thrombin-induce... |
OMIM:139090 |
Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Lethargy |
OMIM:614857 |
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Lethargy |
OMIM:237300 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Lethargy |
OMIM:201450 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Congestive heart failur... |
ORPHA:90308 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Lethargy |
OMIM:615838 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Abnormality of the pancreas, Jaundice, Cholestasis, Hepatic fibrosis,... |
OMIM:222470 |
Acrocephalopolydactylous Dysplasia |
|
Pancreatic fibrosis, Hepatomegaly, Hepatic fibrosis, Polysplenia |
OMIM:200995 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time |
ORPHA:1059 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
Propionic Acidemia |
|
Lethargy |
OMIM:606054 |
Familial Thyroid Dyshormonogenesis |
|
Lethargy |
ORPHA:95716 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hepatic fibrosis |
OMIM:614091 |
Rhabdoid Tumor |
|
Hypertension, Internal hemorrhage |
ORPHA:69077 |
Maple Syrup Urine Disease |
|
Lethargy |
OMIM:248600 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Pallor |
OMIM:615234 |
Von Willebrand Disease, Type 3 |
|
Prolonged bleeding time, Impaired platelet aggregation |
OMIM:277480 |
Carnitine Palmitoyltransferase I Deficiency |
|
Lethargy |
OMIM:255120 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Prolonged prothrombin time, Hepatic fibrosis, Cirrho... |
ORPHA:14 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Lethargy |
OMIM:604377 |
Holocarboxylase Synthetase Deficiency |
|
Lethargy |
ORPHA:79242 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Lethargy, Prolonged prothrombin time |
OMIM:311250 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Lethargy, Prolonged prothrombin time |
ORPHA:71212 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio... |
OMIM:208500 |
Nephronophthisis 11 |
|
Hepatic fibrosis |
OMIM:613550 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Insulinoma |
|
Lethargy |
ORPHA:97279 |
Myopathy, Mitochondrial, And Ataxia |
|
Pallor, Depression |
OMIM:617675 |
Acquired Idiopathic Sideroblastic Anemia |
|
Pallor |
ORPHA:75564 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pallor |
OMIM:600462 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis, Exocrine pancreatic insuf... |
OMIM:616263 |
Aregenerative Anemia |
|
Pallor, Depression |
ORPHA:101096 |
Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Impaired platelet aggregation |
OMIM:614076 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Lethargy |
OMIM:210200 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Hepatic fibrosis |
OMIM:224230 |
Adams-Oliver Syndrome |
|
Congenital hepatic fibrosis, Cirrhosis, Portal hypertension |
ORPHA:974 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Hepatic fibrosis, Elevated circulating aspartate aminotransferase concentration |
OMIM:207900 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Hypersplenism, Microvesicular hepa... |
ORPHA:275761 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Prolonged bleeding time, Impaired platelet aggregation |
OMIM:601399 |
Methylcobalamin Deficiency Type Cble |
|
Lethargy |
ORPHA:2169 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Lethargy |
OMIM:229700 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Hepatic fibrosis |
OMIM:613989 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Congenital hepatic fibrosis |
ORPHA:2031 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Lethargy |
OMIM:251000 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Lethargy |
OMIM:605711 |
Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
Scrub Typhus |
|
Lethargy |
ORPHA:83317 |
Idiopathic Pulmonary Hemosiderosis |
|
Pallor |
ORPHA:99931 |
Syndromic Diarrhea |
|
Hepatomegaly, Splenomegaly, Abnormality of the liver, Hepatic fibrosis, Cirrhosis, Hepatoblastoma |
ORPHA:84064 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor |
ORPHA:90033 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Lethargy, Erythema |
OMIM:618321 |
American Trypanosomiasis |
|
Pallor |
ORPHA:3386 |
Inhalational Anthrax |
|
Internal hemorrhage, Hypotension |
ORPHA:247257 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Lethargy |
OMIM:614922 |
Beta-Ketothiolase Deficiency |
|
Apathy, Pallor |
ORPHA:134 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, Cholestasis, Hepatosple... |
OMIM:266920 |
Fanconi Anemia, Complementation Group I |
|
Pallor |
OMIM:609053 |
Joubert Syndrome 1 |
|
Hepatic fibrosis |
OMIM:213300 |
Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy |
OMIM:212138 |
Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Lethargy, Apathy |
ORPHA:465508 |
Slc35A1-Cdg |
|
Prolonged bleeding time |
ORPHA:238459 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Portal hypertension, Macronodular cirrhosis, Hep... |
OMIM:620005 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Lethargy, Dry skin, Depression |
ORPHA:90674 |
Meckel Syndrome 14 |
|
Hepatic fibrosis |
OMIM:619879 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Lethargy |
OMIM:607143 |
Staphylococcal Necrotizing Pneumonia |
|
Lethargy |
ORPHA:36238 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Lethargy |
OMIM:607483 |
Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
Arima Syndrome |
|
Hepatic steatosis, Hepatic fibrosis, Cirrhosis, Hepatomegaly |
OMIM:243910 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Pallor |
OMIM:266200 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Lethargy |
OMIM:277410 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Pallor |
ORPHA:98870 |
Hermansky-Pudlak Syndrome 6 |
|
Prolonged bleeding time, Ecchymosis, Impaired ADP-induced platelet aggregation |
OMIM:614075 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Lethargy |
OMIM:609015 |
Bardet-Biedl Syndrome 1 |
|
Biliary tract abnormality, Hepatic fibrosis |
OMIM:209900 |
Cirrhosis, Familial |
|
Lethargy |
OMIM:215600 |
Necrotizing Enterocolitis |
|
Lethargy |
ORPHA:391673 |
Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
Late-Onset Isolated Acth Deficiency |
|
Lethargy, Dry skin |
ORPHA:199299 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatic failure, Hepati... |
OMIM:218330 |
Holocarboxylase Synthetase Deficiency |
|
Lethargy |
OMIM:253270 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Lethargy |
OMIM:608836 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Morbilliform rash, Ecchymosis, Internal ... |
ORPHA:99827 |
Beta-Thalassemia Intermedia |
|
Pallor, Skin ulcer |
ORPHA:231222 |
Short-Rib Thoracic Dysplasia 12 |
|
Splenomegaly, Hepatomegaly, Periportal fibrosis, Neonatal death |
OMIM:269860 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy |
ORPHA:159 |
Cholera |
|
Palmoplantar cutis laxa, Lethargy |
ORPHA:173 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Peripo... |
OMIM:124000 |
Congenital Disorder Of Deglycosylation 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis |
OMIM:615273 |
Sepsis In Premature Infants |
|
Pallor, Petechiae, Purpura |
ORPHA:90051 |
Pearson Marrow-Pancreas Syndrome |
|
Lethargy, Erythema, Pallor |
OMIM:557000 |
Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, Ec... |
ORPHA:906 |
Hereditary Spherocytosis |
|
Pallor, Skin ulcer |
ORPHA:822 |
Methylmalonic Aciduria, Cblb Type |
|
Lethargy |
OMIM:251110 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
Orofaciodigital Syndrome I |
|
Pancreatic cysts, Hepatic fibrosis, Hepatic cysts |
OMIM:311200 |
Renal Hypoplasia, Bilateral |
|
Lethargy |
ORPHA:97362 |
Genetic Transient Congenital Hypothyroidism |
|
Lethargy |
ORPHA:226316 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Lethargy |
OMIM:620306 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Lethargy |
OMIM:277380 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Lethargy |
OMIM:608643 |
Mitochondrial Trifunctional Protein Deficiency |
|
Lethargy |
ORPHA:746 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Bradykinesia, Lethargy, Bipolar affective disorder, Depression |
ORPHA:254892 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Lethargy |
ORPHA:26793 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Lethargy |
OMIM:201470 |
Transcobalamin Ii Deficiency |
|
Lethargy |
OMIM:275350 |
Encephalitis Lethargica |
|
Lethargy |
ORPHA:83600 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Hepatic fibrosis |
OMIM:263520 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Lethargy |
ORPHA:79284 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Pallor |
ORPHA:300298 |
Von Willebrand Disease, Type 1 |
|
Prolonged bleeding time, Impaired platelet aggregation |
OMIM:193400 |
Hermansky-Pudlak Syndrome 5 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation |
OMIM:614074 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Lethargy |
OMIM:210210 |
Ebola Hemorrhagic Fever |
|
Lethargy |
ORPHA:319218 |
Familial Hypoaldosteronism |
|
Lethargy |
ORPHA:427 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Pallor |
ORPHA:331206 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Lethargy |
ORPHA:398079 |
Waldenström Macroglobulinemia |
|
Pallor, Purpura |
ORPHA:33226 |
Biotinidase Deficiency |
|
Lethargy |
OMIM:253260 |
Imerslund-Gräsbeck Syndrome |
|
Pallor |
ORPHA:35858 |
Methylmalonic Aciduria, Cbla Type |
|
Lethargy |
OMIM:251100 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619534 |
Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
Histiocytoid Cardiomyopathy |
|
Lethargy, Pallor |
ORPHA:137675 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Lethargy |
ORPHA:398069 |
Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lethargy |
ORPHA:395 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Lethargy |
OMIM:615751 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Lethargy |
ORPHA:90673 |
Alg9-Cdg |
|
Hepatomegaly, Periportal fibrosis, Hepatic cysts |
ORPHA:79328 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype... |
ORPHA:340 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Lethargy |
OMIM:614866 |
Panhypophysitis |
|
Pallor |
ORPHA:95513 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Splenomegaly, Abnormality of the spleen, Hepatosplenomegaly, Hepatic fibrosis, Cholelithiasis |
ORPHA:2072 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Lethargy |
OMIM:620233 |
Trichinellosis |
|
Lethargy, Apathy |
ORPHA:863 |
Medulloblastoma |
|
Lethargy |
ORPHA:616 |
Citrullinemia, Classic |
|
Lethargy |
OMIM:215700 |
Sheehan Syndrome |
|
Dry skin, Pallor |
ORPHA:91355 |
Posterior Urethral Valve |
|
Lethargy |
ORPHA:93110 |
Pituitary Apoplexy |
|
Pallor |
ORPHA:95613 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Lethargy, Dry skin |
OMIM:218700 |
Refractory Anemia With Excess Blasts |
|
Anemic pallor |
ORPHA:86839 |
Glycine Encephalopathy |
|
Lethargy |
ORPHA:407 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor |
ORPHA:29072 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Lethargy |
OMIM:277400 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Pallor |
ORPHA:98849 |
Amoebiasis Due To Free-Living Amoebae |
|
Lethargy, Skin ulcer |
ORPHA:68 |
Isolated Complex I Deficiency |
|
Lethargy |
ORPHA:2609 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Elevated hepatic transaminase, Biliary cirrhosis, Cholestatic liver disease, Hepatic fibrosis, Ci... |
ORPHA:99413 |
Turner Syndrome |
|
Elevated hepatic transaminase, Biliary cirrhosis, Cholestatic liver disease, Hepatic fibrosis, Ci... |
ORPHA:881 |
Mosaic Monosomy X |
|
Elevated hepatic transaminase, Biliary cirrhosis, Cholestatic liver disease, Hepatic fibrosis, Ci... |
ORPHA:99228 |
Monosomy X |
|
Elevated hepatic transaminase, Biliary cirrhosis, Cholestatic liver disease, Hepatic fibrosis, Ci... |
ORPHA:99226 |
Prolactinoma |
|
Pallor |
ORPHA:2965 |
Biotinidase Deficiency |
|
Lethargy |
ORPHA:79241 |
Meckel Syndrome |
|
Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C... |
ORPHA:564 |
Fumarase Deficiency |
|
Pallor |
OMIM:606812 |
Hereditary Fructose Intolerance |
|
Lethargy |
ORPHA:469 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemic pallor |
ORPHA:329971 |
Incontinentia Pigmenti |
|
Erythema, Pallor |
OMIM:308300 |
Complete Atrioventricular Septal Defect |
|
Lethargy |
ORPHA:1329 |
Alternating Hemiplegia Of Childhood |
|
Pallor |
ORPHA:2131 |
Hellp Syndrome |
|
Prolonged prothrombin time, Cerebral hemorrhage, Internal hemorrhage, Hypotension |
ORPHA:244242 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Lethargy |
ORPHA:79282 |
Marburg Hemorrhagic Fever |
|
Abnormal bleeding, Shock, Tachycardia, Pericarditis, Maculopapular exanthema, Skin rash, Excessiv... |
ORPHA:99826 |
Diamond-Blackfan Anemia |
|
Lethargy, Pallor |
ORPHA:124 |
Kufor-Rakeb Syndrome |
|
Bradykinesia, Lethargy, Apathy |
ORPHA:306674 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Lethargy |
OMIM:617156 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Lethargy |
OMIM:252010 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Lethargy |
ORPHA:415 |
Yellow Fever |
|
Abnormal bleeding, Shock, Skin rash, Supraventricular arrhythmia, Excessive bleeding after a veni... |
ORPHA:99829 |
Exercise-Induced Malignant Hyperthermia |
|
Lethargy, Dry skin |
ORPHA:466650 |
Hydranencephaly |
|
Lethargy |
ORPHA:2177 |
Esophageal Atresia |
|
Pallor |
ORPHA:1199 |
Idiopathic Hypereosinophilic Syndrome |
|
Pallor |
ORPHA:3260 |
Superficial Siderosis |
|
Abnormal bleeding, Persistent bleeding after trauma, Internal hemorrhage, Subarachnoid hemorrhage |
ORPHA:247245 |
Glycerol Kinase Deficiency |
|
Lethargy |
OMIM:307030 |
Semilobar Holoprosencephaly |
|
Lethargy, Apathy, Depression |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Lethargy, Apathy, Depression |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Lethargy, Apathy, Depression |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Lethargy, Apathy, Depression |
ORPHA:93924 |
Fanconi Anemia, Complementation Group E |
|
Anemic pallor |
OMIM:600901 |
Pineoblastoma |
|
Lethargy |
ORPHA:251909 |
Johanson-Blizzard Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:243800 |
Fanconi Anemia, Complementation Group A |
|
Anemic pallor |
OMIM:227650 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Lethargy |
ORPHA:226307 |
Tsh-Secreting Pituitary Adenoma |
|
Pallor |
ORPHA:91347 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Fanconi Anemia, Complementation Group C |
|
Anemic pallor |
OMIM:227645 |
Degcags Syndrome |
|
Pallor |
OMIM:619488 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pallor |
ORPHA:544482 |
Multiple Endocrine Neoplasia Type 2 |
|
Pallor |
ORPHA:653 |
Lysinuric Protein Intolerance |
|
Lethargy |
ORPHA:470 |
Diamond-Blackfan Anemia 1 |
|
Pallor |
OMIM:105650 |
Multiple Endocrine Neoplasia Type 1 |
|
Lethargy, Depression |
ORPHA:652 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pallor |
ORPHA:667 |
Von Hippel-Lindau Disease |
|
Pallor |
ORPHA:892 |
Fructose Intolerance, Hereditary |
|
Lethargy |
OMIM:229600 |
Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor |
OMIM:227646 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
Alström Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Hepatitis, Hepato... |
ORPHA:64 |
Eisenmenger Syndrome |
|
Lethargy |
ORPHA:97214 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Lethargy |
ORPHA:447 |
Tuberous Sclerosis Complex |
|
Hypertension, Internal hemorrhage |
ORPHA:805 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Congenital hepatic fibrosis |
ORPHA:93271 |
Goodpasture Syndrome |
|
Pallor |
OMIM:233450 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Hepatic fibrosis, Abnormal liver parenchyma morphology |
ORPHA:79318 |
Vascular Ehlers-Danlos Syndrome |
|
Abnormal bleeding, Telangiectasia of the skin, Transient ischemic attack, Renovascular hypertensi... |
ORPHA:286 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Pallor |
ORPHA:99125 |
Stroke, Ischemic |
|
|
OMIM:601367 |
Thrombophilia Due To Activated Protein C Resistance |
|
|
OMIM:188055 |
Pregnancy Loss, Recurrent, Susceptibility To, 1 |
|
|
OMIM:614389 |