Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Hypertriglyceride... |
OMIM:232700 |
Preeclampsia |
|
Abnormality of the hepatic vasculature, Small for gestational age, Increased body mass index, Ele... |
ORPHA:275555 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hepatic... |
OMIM:613812 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Intrauterine growth retardation, Failure to thrive, Microvesicular hepatic steatosis, Hepatic fai... |
OMIM:617156 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Failure to thrive, Short stature, Recurrent skin infections, Decreased serum creatinine, Growth d... |
OMIM:617744 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Aminoaciduria, Cholestatic liver disease, ... |
OMIM:613404 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Colitis, Hepatomegaly, Folliculitis, Splenomegaly, Recurrent skin infections, Inflammation of the... |
OMIM:300635 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Failure to thrive, Cholestatic liver disease, Giant cell hepatitis, Aminoaciduria, Intrahepatic b... |
OMIM:208085 |
Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis |
OMIM:613783 |
Halothane Hepatitis |
|
Obesity, Hepatitis, Viral hepatitis, Jaundice |
OMIM:234350 |
Wilson Disease |
|
Joint swelling, Failure to thrive, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, ... |
ORPHA:905 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Elevated circulating alkaline phosphatase ... |
ORPHA:79303 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr... |
OMIM:251880 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Steatorrhea, Hepatic failure, Splenomegaly... |
OMIM:607765 |
Cirrhosis, Familial |
|
Cirrhosis, Hepatitis, Chronic active hepatitis |
OMIM:118900 |
Cyanosis And Hepatic Disease |
|
Hepatitis |
OMIM:219400 |
Trichohepatoenteric Syndrome 2 |
|
Failure to thrive, Bloody diarrhea, Colitis, Hepatomegaly, Small for gestational age, Cirrhosis, ... |
OMIM:614602 |
African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Increased ci... |
ORPHA:139507 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Short stature, Increased hepatic glycogen content, Chronic hepatitis, Elevated circ... |
OMIM:614921 |
Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatomegaly, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Nausea, Type I... |
OMIM:618549 |
Autosomal Agammaglobulinemia |
|
Failure to thrive, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Dehydration, D... |
ORPHA:33110 |
Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Peritonitis, Diarrhea, Vomiting, ... |
ORPHA:36234 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Diarrhea, Vomiting, Cholestasis, Neona... |
OMIM:608104 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Recurrent otitis media, Splenomegaly |
ORPHA:444463 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Growth delay, Failure to thrive, Hyperlipidemia, Hepatomegaly, Short stature, Increased hepatic g... |
ORPHA:369 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Elevated circulating creatinine concentration, Postnatal growth retard... |
OMIM:616733 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatomegaly, Hyperglycinuria, Vomiting, Hypoglycemia, Elevated hepatic transaminase, Hepatic ste... |
OMIM:201450 |
Autoimmune Hepatitis |
|
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... |
ORPHA:2137 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hepatic failure, Elevated hepatic transami... |
OMIM:214950 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Sinusitis, Osteomyelitis, Skin rash, Short stature, Chronic otitis media, Arth... |
ORPHA:47 |
Isolated Sedoheptulokinase Deficiency |
|
Postprandial hyperglycemia, Cholestatic liver disease, Steatorrhea, Short stature, Severe postnat... |
ORPHA:440713 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Elevated circulating aspartate aminotransferase concentration, Failure to thrive in infancy, Elev... |
OMIM:611182 |
Complement Component 4B Deficiency |
|
Chronic active hepatitis, Recurrent sinusitis, Recurrent pneumonia, Chronic diarrhea, Recurrent o... |
OMIM:614379 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatitis, Hepatomegaly, Jaundice, Hepatic failure |
ORPHA:60 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Failure to thrive, Hepatomegaly, Dehydration, Hypoglycemia, Elevated hepatic transaminase, Dyspha... |
OMIM:618958 |
Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Tubulointerstitial nephritis, Elevated circulating creatinine conc... |
OMIM:614817 |
Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Hepatitis, Hypoglycemic seizures, Prolonged neonatal jaundi... |
ORPHA:199296 |
Graft Versus Host Disease |
|
Failure to thrive, Inflammatory abnormality of the skin, Elevated circulating alkaline phosphatas... |
ORPHA:39812 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosph... |
ORPHA:2088 |
Coach Syndrome 2 |
|
Congenital hepatic fibrosis, Elevated hepatic transaminase, Elevated circulating creatinine conce... |
OMIM:619111 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Otitis media, Hepatosplenomegaly, Diarrhea, Hepatitis, Protracted diarr... |
ORPHA:169160 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Short stature, Elevated hepatic transaminase, Hypertriglyceridemia, H... |
OMIM:614480 |
Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Short stature, Hepatitis, Pedal edema, Encephalocele, Ascites, Jaundice |
ORPHA:381 |
Primary Sclerosing Cholangitis |
|
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Uveitis, Type I diab... |
ORPHA:171 |
Wilson Disease |
|
Hepatomegaly, Aminoaciduria, Hepatic failure, Splenomegaly, Cirrhosis, Osteoarthritis, Hepatocell... |
OMIM:277900 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Pustule, Skin rash, Acute hepatic failure, Interstitial pneumonitis, Myocarditis, Elevated hepati... |
ORPHA:139402 |
Thrombotic Thrombocytopenic Purpura |
|
Diarrhea, Decreased serum creatinine, Abnormal lactate dehydrogenase level |
ORPHA:54057 |
Histidinemia |
|
Hyperhistidinemia, Histidinuria |
ORPHA:2157 |
Immunodeficiency 56 |
|
Failure to thrive, Chronic hepatitis due to cryptosporidium infection, Hepatic failure, Cirrhosis... |
OMIM:615207 |
Glycogen Storage Disease Ixc |
|
Growth delay, Hepatomegaly, Postnatal growth retardation, Splenomegaly, Increased hepatic glycoge... |
OMIM:613027 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Gastroesophageal reflux, Hepatomegaly, Splenomegaly, Short stature, Hepatitis, Type I diabetes me... |
OMIM:613385 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Failure to thrive, Osteomyelitis leading to amputation due to slow healing fractures, Hepatomegal... |
OMIM:256810 |
Macrophage Activation Syndrome |
|
Decreased liver function, Hepatomegaly, Splenomegaly, Juvenile rheumatoid arthritis, Elevated cir... |
ORPHA:158061 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Aminoaciduria, Elevated circulating alkaline phosphatase concentration, Short statu... |
OMIM:616026 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Ileus, Failure to thrive, Eczema, Glomerulonephritis, Arthritis, Hepatitis, Type I diabetes melli... |
OMIM:304790 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholelithiasis, Cholestatic liver disease, Giant cell hepatitis, Type II diabetes mellitus, Abnor... |
ORPHA:79095 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Short stature, Glycosuria, Elevated circulating creatinine concentration, Growth d... |
OMIM:615605 |
Adult-Onset Still Disease |
|
Joint swelling, Hepatomegaly, Skin rash, Splenomegaly, Myocarditis, Arthritis, Elevated hepatic t... |
ORPHA:829 |
Congenital Enterovirus Infection |
|
Skin rash, Hepatic failure, Hydrops fetalis, Myocarditis, Cholestasis, Polyhydramnios, Hepatitis,... |
ORPHA:292 |
Porphyria Cutanea Tarda |
|
Recurrent bacterial skin infections, Viral hepatitis, Periportal fibrosis, Abnormal enzyme/coenzy... |
ORPHA:101330 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Gastritis, Eczema, Vomiting, Type I diabetes mellitus, Pneumonia, Failure to thrive in infancy, C... |
ORPHA:37042 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomega... |
OMIM:214900 |
Histidinemia |
|
Hyperhistidinemia, Histidinuria |
OMIM:235800 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration, Severe short stature |
OMIM:242530 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Splenic cyst, Hepatic ... |
OMIM:610199 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Macrovesicular hepatic steatosis, Cholestasis, Hypertriglyceridemia, Acute hepatic steatosis, Hep... |
ORPHA:209902 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Failure to thrive, Decreased liver function, Hepatomegaly, Episodic vomiting, Acute hepatitis |
OMIM:238970 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Elevated hepatic transaminase, Hy... |
OMIM:306000 |
Tubulointerstitial Nephritis With Uveitis |
|
Panuveitis, Anterior uveitis, Elevated circulating creatinine concentration, Uveitis, Glomerulone... |
OMIM:607665 |
Avian Influenza |
|
Diarrhea, Myelitis, Vomiting, Increased circulating lactate dehydrogenase concentration, Elevated... |
ORPHA:454836 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Cirrhosis, Hepatosplenomegaly, Hepatitis, Hypersplenism, Type I diabetes m... |
ORPHA:228426 |
Microsporidiosis |
|
Keratitis, Pancreatitis, Lymphadenitis, Vomiting, Myocarditis, Biliary tract abnormality, Pneumon... |
ORPHA:2552 |
Alstrom Syndrome |
|
Hyperinsulinemia, Hepatomegaly, Chronic active hepatitis, Nephritis, Otitis media, Short stature,... |
OMIM:203800 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Intrauterine growth retardation, Failure to thrive, Hyperinsulinemic hypoglycemia, Decreased 3-hy... |
ORPHA:71212 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Short stature, Ketotic hypoglycemi... |
ORPHA:2089 |
Q Fever |
|
Osteomyelitis, Hepatomegaly, Splenomegaly, Maculopapular exanthema, Hepatosplenomegaly, Endocardi... |
ORPHA:781 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Hepatitis |
ORPHA:363523 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Episodic vomiting, Decreased serum creatinine |
OMIM:612736 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Failure to thrive, Hepatomegaly, Chronic oral candidiasis, Splenomegaly, Cirrhosis, Chronic hepat... |
OMIM:308230 |
Primary Biliary Cholangitis |
|
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Cirrhosis, Hepatocellul... |
ORPHA:186 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... |
ORPHA:69663 |
Late-Onset Isolated Acth Deficiency |
|
Failure to thrive, Constipation, Decreased circulating cortisol level, Diarrhea, Hypoglycemia, He... |
ORPHA:199299 |
Aicardi-Goutieres Syndrome 7 |
|
Intrauterine growth retardation, Bloody diarrhea, Hepatomegaly, Hematemesis, Skin rash, Splenomeg... |
OMIM:615846 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Exocrine pancreatic insufficiency, Type II diabetes mellitus, Steatorrhea, Cirrhosis, Chronic hep... |
OMIM:269200 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Diarrhea, Vomiting, Cholestasis, Hepatocellular adenoma, Portal fibrosis, Increased... |
ORPHA:264580 |
Aspergillosis |
|
Keratitis, Sinusitis, Osteomyelitis, Hepatitis, Infectious encephalitis, Pneumonia, Pleural effus... |
ORPHA:1163 |
Tyrosinemia, Type I |
|
Melena, Paralytic ileus, Growth delay, Hepatomegaly, Failure to thrive, Hepatic failure, Splenome... |
OMIM:276700 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Pulmonary edema, Skin rash, Diarrhea, Vomiting, Elevated hepatic transaminase, Elevated circulati... |
ORPHA:542323 |
Dominant Beta-Thalassemia |
|
Splenomegaly, Cirrhosis, Chronic hepatitis, Diarrhea, Hepatocellular carcinoma, Hepatosplenomegal... |
ORPHA:231226 |
Bare Lymphocyte Syndrome, Type Ii |
|
Failure to thrive, Colitis, Viral hepatitis, Biliary tract abnormality, Protracted diarrhea, Chro... |
OMIM:209920 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hepatomegaly, Elevated circulating alkaline phos... |
ORPHA:263455 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Cholelithiasis, Giant cell hepatitis, Jaundice |
OMIM:214980 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Intrauterine growth retardation, Bloody diarrhea, Peritoneal abscess, Polyhydramnios, Hepatitis, ... |
ORPHA:436252 |
Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Hepatomegaly, Splenomegaly |
ORPHA:848 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Bloody diarrhea, Enterocolitis, Hematochezia, Intestinal obstruction, Polyhydramnios, Intrauterin... |
OMIM:243150 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Abnormal enzyme/coenzyme activity, Postnatal growth retardation, Splenomegaly, Keto... |
ORPHA:79240 |
Zygomycosis |
|
Melena, Gastritis, Pancreatitis, Diarrhea, Vomiting, Acute infectious pneumonia, Hematochezia, My... |
ORPHA:73263 |
Legionnaires Disease |
|
Pancreatitis, Splenomegaly, Diarrhea, Endocarditis, Myocarditis, Hepatitis, Infectious encephalit... |
ORPHA:549 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Recurrent otitis media, Viral hepatitis, Skin rash, Rheumatoid arthritis, Atop... |
ORPHA:183675 |
Ebola Hemorrhagic Fever |
|
Melena, Maculopapular exanthema, Diarrhea, Vomiting, Acute pancreatitis, Hepatitis, Nausea, Dysph... |
ORPHA:319218 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Growth delay, Failure to thrive, Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, C... |
ORPHA:370 |
Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Hydrops fetalis, Hepatitis, Lymphedema, Umbilical hernia, Ascites |
ORPHA:584 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Elevated circulating alkaline phosphatase concentration, Cirrhosis, Sc... |
ORPHA:562639 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenom... |
OMIM:235555 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Dehydration, Diarrhea, Vomiting, Hypoglycemia, Elevated circulating creatinine ... |
ORPHA:230 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Acute otitis media, Failure to thrive, Sinusitis, Chronic hepatitis due to cryptosporidium infect... |
ORPHA:572 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Myasthenia Gravis |
|
Rheumatoid arthritis, Glycosuria, Myositis, Hepatitis, Hashimoto thyroiditis, Dysphagia |
ORPHA:589 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Decreased liver function, Failure to thrive, Microvesicular hepatic steatosis, Aminoaciduria, Cho... |
OMIM:124000 |
Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Viral hepatitis, Splenomegaly, Arthritis, Gastrointestinal hemorrhage, Keratoconjun... |
ORPHA:91138 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Prostatitis, Pyoderma, Short stature, Enteroviral hepatitis, Diarrhea, Epididymitis, I... |
OMIM:307200 |
Melioidosis |
|
Splenic abscess, Prostatitis, Osteoarthritis, Abnormality of the spleen, Acute infectious pneumon... |
ORPHA:31202 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Enterocolitis, Short stature, Eczema, Diarrhea, Hepatosplen... |
ORPHA:391487 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Cholelithiasis, Iridocyclitis, Chronic active hepatitis, Chronic oral candidiasis, Diarrhea, Kera... |
OMIM:240300 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Peritonitis, Cholecystitis, Intesti... |
ORPHA:131 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Intrauterine growth retardation, Hepatomegaly, Elevated circulating alkaline phosphatase concentr... |
ORPHA:247598 |
Acute Liver Failure |
|
Hepatocellular necrosis, Skin rash, Diarrhea, Vomiting, Hypoglycemia, Elevated hepatic transamina... |
ORPHA:90062 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Intrauterine growth retardation, Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepat... |
ORPHA:541423 |
Idiopathic Hypereosinophilic Syndrome |
|
Joint swelling, Failure to thrive, Colitis, Pancreatitis, Inflammatory abnormality of the skin, S... |
ORPHA:3260 |
Autoimmune Polyendocrinopathy Type 4 |
|
Iridocyclitis, Rheumatoid arthritis, Xerostomia, Hepatitis, Tubulointerstitial nephritis, Type I ... |
ORPHA:227990 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Hepatic failure, Episodic vomiting, El... |
ORPHA:415 |
Rift Valley Fever |
|
Melena, Hematemesis, Skin rash, Macular edema, Elevated hepatic transaminase, Hepatitis, Uveitis,... |
ORPHA:319251 |
Acute Disseminated Encephalomyelitis |
|
Optic neuritis, Viral hepatitis, Herpes simplex encephalitis, Myelitis, Vomiting, Nausea, Cerebra... |
ORPHA:83597 |
Spondyloenchondrodysplasia |
|
Skin rash, Short stature, Juvenile rheumatoid arthritis, Arthritis, Disproportionate short-trunk ... |
ORPHA:1855 |
Autoimmune Polyendocrinopathy Type 3 |
|
Iridocyclitis, Rheumatoid arthritis, Xerostomia, Hepatitis, Tubulointerstitial nephritis, Type I ... |
ORPHA:227982 |
Infantile Liver Failure Syndrome 2 |
|
Acute hepatic failure, Vomiting, Hypoglycemia, Elevated hepatic transaminase, Jaundice |
OMIM:616483 |
Lichen Planopilaris |
|
Hepatitis |
ORPHA:525 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Elevated gamma-glutamyltra... |
OMIM:613095 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased serum creatinine |
OMIM:300539 |
Mccune-Albright Syndrome |
|
Pancreatitis, Gastroesophageal reflux, Increased circulating cortisol level, Cholestasis, Hepatoc... |
ORPHA:562 |
Fructose Intolerance, Hereditary |
|
Failure to thrive, Transient aminoaciduria, Hepatomegaly, Cirrhosis, Glycosuria, Vomiting, Hypogl... |
OMIM:229600 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Hepatitis, Jaundice |
OMIM:194380 |
Glycogen Storage Disease Ia |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Short stature, Hepatocellular carcinoma, Gout, Hypogl... |
OMIM:232200 |
Thymic Aplasia |
|
Failure to thrive, Sinusitis, Eczematoid dermatitis, Chronic oral candidiasis, Diarrhea, Chronic ... |
ORPHA:83471 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration, Anasarca |
OMIM:123550 |
Renal Cysts And Diabetes Syndrome |
|
Glucose intolerance, Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young, Gly... |
OMIM:137920 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Nephritis, Membranoproliferative glomerulonephritis, Arthritis, Weight loss, Gas... |
ORPHA:91139 |
Isolated Biliary Atresia |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphat... |
ORPHA:30391 |
Immunodeficiency 82 With Systemic Inflammation |
|
Crohn's disease, Intractable diarrhea, Colitis, Gastritis, Osteomyelitis, Skin rash, Splenomegaly... |
OMIM:619381 |
Autoimmune Lymphoproliferative Syndrome |
|
Colitis, Hepatomegaly, Gastritis, Splenomegaly, Hepatocellular carcinoma, Hydrops fetalis, Arthri... |
ORPHA:3261 |
Gallbladder Disease 1 |
|
Cholelithiasis, Pancreatitis, Elevated circulating alkaline phosphatase concentration, Cholestasi... |
OMIM:600803 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentra... |
ORPHA:567983 |
Kawasaki Disease |
|
Cheilitis, Conjunctivitis, Skin rash, Diarrhea, Myocarditis, Cholecystitis, Arthritis, Hepatitis,... |
ORPHA:2331 |
Relapsing Polychondritis |
|
Keratitis, Conjunctivitis, Chondritis, Myocarditis, Arthritis, Hepatitis, Uveitis, Recurrent apht... |
ORPHA:728 |
Chronic Mucocutaneous Candidiasis |
|
Cheilitis, Hepatitis, Skin rash |
ORPHA:1334 |
Gaucher Disease |
|
Osteomyelitis, Hepatomegaly, Splenomegaly, Short stature, Cirrhosis, Osteoarthritis, Hydrops feta... |
ORPHA:355 |
Lysosomal Acid Lipase Deficiency |
|
Elevated circulating alkaline phosphatase concentration, Steatorrhea, Hepatic failure, Diarrhea, ... |
ORPHA:275761 |
Agammaglobulinemia, X-Linked |
|
Prostatitis, Pyoderma, Enteroviral hepatitis, Hepatocellular carcinoma, Recurrent sinusitis, Epid... |
OMIM:300755 |
Lujo Hemorrhagic Fever |
|
Facial edema, Skin rash, Maculopapular exanthema, Generalized edema, Diarrhea, Fulminant hepatiti... |
ORPHA:319213 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Fulminant hepatitis, Infectious encephalitis |
OMIM:308240 |
Postinfectious Vasculitis |
|
Bacterial endocarditis, Inflammatory abnormality of the skin, Viral hepatitis, Orchitis, Membrano... |
ORPHA:48435 |
Primary Sjögren Syndrome |
|
Chronic active hepatitis, Optic neuritis, Lymphocytic interstitial pneumonia, Chronic hepatitis, ... |
ORPHA:289390 |
Cirrhosis, Familial |
|
Micronodular cirrhosis, Cirrhosis, Fulminant hepatitis, Ascites, Jaundice, Biliary cirrhosis |
OMIM:215600 |
Leptospirosis |
|
Optic neuritis, Hepatomegaly, Skin rash, Diarrhea, Hepatitis, Uveitis, Elevated serum transaminas... |
ORPHA:509 |
Occipital Horn Syndrome |
|
Gastroesophageal reflux, Cholestasis, Hepatitis, Esophagitis, Dysphagia, Gastroparesis, Jaundice |
ORPHA:198 |
Immune Deficiency Disease |
|
Fulminant hepatitis, Cholangitis |
OMIM:242850 |
Alström Syndrome |
|
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Abnormal liver physiology, Otitis media, Hepatic fa... |
ORPHA:64 |
X-Linked Lymphoproliferative Disease |
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Decreased liver function, Colitis, Nephritis, Hepatic failure, Splenomegaly, Hepatosplenomegaly, ... |
ORPHA:2442 |