Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Portal fibrosis, Failure to thrive, Increased total bilirubin, Elevated circulat... |
OMIM:619868 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... |
OMIM:620010 |
Rotor Syndrome |
|
Bilirubinuria, Hyperbilirubinemia, Intermittent jaundice, Porphyrinuria, Jaundice, Conjugated hyp... |
ORPHA:3111 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Cataract |
ORPHA:79281 |
Edinburgh Malformation Syndrome |
|
Jaundice, Neonatal hyperbilirubinemia, Failure to thrive |
OMIM:129850 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Failure to thrive, Decreased HDL c... |
OMIM:605814 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con... |
OMIM:619874 |
Crigler-Najjar Syndrome Type 2 |
|
Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79235 |
Biliary Atresia, Extrahepatic |
|
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Increased total bilirub... |
OMIM:210500 |
Crigler-Najjar Syndrome Type 1 |
|
Neonatal hyperbilirubinemia, Abnormality of the liver, Biliary tract abnormality, Prolonged neona... |
ORPHA:79234 |
Dubin-Johnson Syndrome |
|
Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality |
OMIM:237500 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Intrahepatic cholestasis, Hepatic failure, Diarrhea, Elevated circulating hepatic transaminase co... |
OMIM:235555 |
Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia, Jaundice, Elevated circulating hepatic transaminase concentration |
OMIM:606785 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Diarrhea, Hepatic failure, Fai... |
OMIM:613812 |
Gallbladder Disease 1 |
|
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... |
OMIM:600803 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F... |
ORPHA:79303 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Cryptorchidism |
OMIM:274205 |
Cholestasis-Lymphedema Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Splenomegaly, Neonatal c... |
OMIM:214900 |
Hepatic Veno-Occlusive Disease |
|
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Renal insuffi... |
ORPHA:890 |
Hypercholanemia, Familial, 2 |
|
Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Increased serum bile acid concentra... |
OMIM:619256 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Intrahepatic cholestasis, Hepatic failure, Diarrhea, Elevated circulating hepatic transaminase co... |
OMIM:607765 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia, Jaundice, Elevated circulating hepatic transaminase concentration |
OMIM:218800 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Diarrhea, Increased urinary glycerol, Cholestasis, Increased LDL cholesterol concentration, Hyper... |
ORPHA:247598 |
Jaundice, Familial Obstructive, Of Infancy |
|
Jaundice, Neonatal hyperbilirubinemia |
OMIM:308600 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Jaundice, Conjugated hyperbilirubinemia |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Jaundice, Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... |
OMIM:616278 |
Hyperbilirubinemia, Rotor Type |
|
Jaundice, Conjugated hyperbilirubinemia |
OMIM:237450 |
Harderoporphyria |
|
Neonatal hyperbilirubinemia, Vomiting, Increased circulating ferritin concentration, Increased ur... |
OMIM:618892 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... |
ORPHA:65682 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Cholelithiasis, Splenomegaly |
OMIM:224100 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Increased total bilirubin, Multiple renal c... |
ORPHA:2924 |
Protoporphyria, Erythropoietic, X-Linked |
|
Cholelithiasis, Elevated circulating hepatic transaminase concentration |
OMIM:300752 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia, Hepatic failure, Elevated circulating hepatic transaminase conce... |
OMIM:143500 |
Gcgr-Related Hyperglucagonemia |
|
Cholelithiasis, Neoplasm of the pancreas, Abnormal biliary tract morphology |
ORPHA:438274 |
Galactosemia Iv |
|
Hepatomegaly, Cataract, Prolonged neonatal jaundice |
OMIM:618881 |
Hyperbiliverdinemia |
|
Cholestasis, Cholelithiasis, Decreased liver function |
OMIM:614156 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... |
OMIM:619662 |
Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia, Splenomegaly, Intermittent jaundice |
OMIM:179700 |
Lipoyltransferase 1 Deficiency |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota... |
OMIM:616299 |
Malaria |
|
Elevated circulating C-reactive protein concentration, Acute kidney injury, Hyperbilirubinemia |
ORPHA:673 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Intrahepatic cholestasis, Cholelithiasis, Jaundice |
OMIM:605479 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Jaundice, Hyperbilirubinemia, Splenomegaly |
OMIM:237800 |
Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Vomiting, Elevated circulating hepatic transaminase concentration, Dicarboxylic ... |
OMIM:613070 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminas... |
OMIM:214950 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration... |
OMIM:614300 |
Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... |
ORPHA:69663 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Elevated circulating hepatic ... |
OMIM:613404 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... |
OMIM:618528 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... |
ORPHA:79095 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intrahepatic cholestasis, Diarrhea, Failure to thrive, Splenomegaly, Intermittent jaundice, Cirrh... |
OMIM:601847 |
Dubin-Johnson Syndrome |
|
Abnormal urinary color, Abnormality of the liver, Biliary tract abnormality, Hepatomegaly, Jaundi... |
ORPHA:234 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Generalized aminoaciduria, Intrahepatic cholestasis, Ketonuria, Glycosuria, Beta 2-... |
OMIM:227810 |
Isolated Biliary Atresia |
|
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, ... |
ORPHA:30391 |
Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Splenomegaly, Hypogonadotropic hypogonadi... |
ORPHA:848 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Cataract, Elevated circulating aspartate aminotransferase concentration, Ventricular septal defec... |
OMIM:614876 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr... |
OMIM:619484 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Cirrhosis, Decreased liver function |
ORPHA:79278 |
Myotonic Dystrophy 1 |
|
Testicular atrophy, Cataract, Cholelithiasis, Hypogonadism |
OMIM:160900 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, Jaundice |
OMIM:613470 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... |
OMIM:211600 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Intermittent jaundice, Increased serum bile acid concentration, Pancreatitis, Intrahepatic choles... |
OMIM:243300 |
Bile Acid Conjugation Defect 1 |
|
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... |
OMIM:619232 |
Caroli Disease |
|
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Conjunctival icter... |
ORPHA:53035 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... |
ORPHA:79302 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst, Polycystic liver disease, Increased total bilirubin |
OMIM:174050 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... |
OMIM:617156 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Vomiting, He... |
OMIM:251880 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract, Splenomegaly |
OMIM:619813 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Micropenis, Neonatal hyperbilirubinemia, Small for gestational age |
ORPHA:3363 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... |
ORPHA:567983 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure |
OMIM:177000 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Increased circulating f... |
ORPHA:158057 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Elevated circulating hepatic ... |
OMIM:208085 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Jaundice, Cholelithiasis, Splenomegaly, Cholecystitis |
OMIM:235700 |
Hepatoportal Sclerosis |
|
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periport... |
ORPHA:64743 |
Glycogen Storage Disease Vii |
|
Cholelithiasis, Increased total bilirubin, Exercise-induced myoglobinuria, Hyperuricemia, Elevate... |
OMIM:232800 |
Galactosemia Ii |
|
Prolonged neonatal jaundice, Cataract |
OMIM:230200 |
Mirizzi Syndrome |
|
Cholelithiasis, Vomiting, Elevated circulating hepatic transaminase concentration, Hyperbilirubin... |
ORPHA:521219 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Decreased liver f... |
OMIM:617093 |
Gracile Syndrome |
|
Aminoaciduria, Increased circulating iron concentration, Increased circulating ferritin concentra... |
OMIM:603358 |
Wolcott-Rallison Syndrome |
|
Chronic kidney disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentration,... |
ORPHA:1667 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe... |
OMIM:620135 |
Infantile Sialic Acid Storage Disease |
|
Failure to thrive, Splenomegaly, Hepatomegaly, Nephrotic syndrome, Conjugated hyperbilirubinemia |
OMIM:269920 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hepatic failure, Failure to thrive, Elevated circulating aspartate aminotransferase concentration... |
OMIM:617049 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Conjunctival icterus, Hepatitis, Splenomegaly, Hepatomegaly, Jaundice |
OMIM:194380 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Cholestasis, Decreased circulating cortisol level, Obesity, Hyperbilirubinemia |
OMIM:609734 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cataract, Tetralogy of Fallot, Cryptorchidism, Aplasia/Hypoplasia of the lens, Hypoplasia of peni... |
ORPHA:1381 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Failure t... |
OMIM:229600 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Splenomegaly, Cholecystitis, Hepatomegaly, Jaundice |
OMIM:266200 |
Spherocytosis, Type 1 |
|
Jaundice, Cholelithiasis, Splenomegaly |
OMIM:182900 |
Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... |
OMIM:617394 |
Pancreatic Colipase Deficiency |
|
Exocrine pancreatic insufficiency, Cholelithiasis |
ORPHA:309108 |
Caroli Syndrome |
|
Hypersplenism, Hyperbilirubinemia, Congenital hepatic fibrosis, Cirrhosis, Abnormality of the kid... |
ORPHA:480520 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hepatic failure, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Abnorma... |
OMIM:614886 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Intrahepatic cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbil... |
OMIM:619685 |
Senior-Boichis Syndrome |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega... |
ORPHA:84081 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cataract, Cryptorchidism, Ventricular septal defect, Hepatomegaly, Optic disc pallor |
OMIM:613730 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal fibrosi... |
OMIM:602347 |
Relapsing Fever |
|
Acute kidney injury, Abnormality of the urinary system, Diarrhea, Vomiting, Elevated circulating ... |
ORPHA:91547 |
Combined Oxidative Phosphorylation Deficiency 59 |
|
Hypertrophic cardiomyopathy, Cholelithiasis, Retinal degeneration |
OMIM:620646 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Decreased liver function, Hypogonadism, Hepatosplenomegaly, Abnormality of the li... |
ORPHA:231222 |
Cystic Echinococcosis |
|
Cholestatic liver disease, Peritoneal abscess, Elevated circulating hepatic transaminase concentr... |
ORPHA:400 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Constipation, Conj... |
ORPHA:95715 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... |
OMIM:616860 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total... |
OMIM:267700 |
Cimdag Syndrome |
|
Cholelithiasis, Hypogonadism, Microvesicular hepatic steatosis, Developmental cataract, Hepatomegaly |
OMIM:619273 |
Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Splenomegaly, Cardiomegaly, Hepatomegaly, Jaundice |
OMIM:603903 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Hypertrophic cardiomyopathy, Ventricular septal defect, Papilledema, Pericardial ... |
OMIM:618775 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Cholecystitis, Incre... |
ORPHA:69665 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
Nephronophthisis 19 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... |
OMIM:616217 |
Corneal Dystrophy, Groenouw Type I |
|
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Distal Duplication 5Q |
|
Cryptorchidism, Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder, Dextrocardia, H... |
ORPHA:96097 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Jaundice, Splenomegaly, Cataract |
ORPHA:79238 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg... |
ORPHA:766 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Cataract, Cholelithiasis, Female hypogonadism, Male hypogonadism, Pigmentary retinopathy, Keratoc... |
OMIM:240300 |
Pearson Marrow-Pancreas Syndrome |
|
3-Methylglutaric aciduria, Hepatic failure, Vomiting, Elevated circulating hepatic transaminase c... |
OMIM:557000 |
Glycogen Storage Disease Xii |
|
Cholelithiasis, Hyperbilirubinemia, Cholecystitis, Reduced haptoglobin level, Elevated circulatin... |
OMIM:611881 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma... |
ORPHA:615 |
Idiopathic Congenital Hypothyroidism |
|
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Constipation |
ORPHA:95717 |
Congenital Alveolar Capillary Dysplasia |
|
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Tetralogy of Fallot, Atrioventri... |
ORPHA:210122 |
Galactose Mutarotase Deficiency |
|
Hepatomegaly, Cataract, Cholestasis, Decreased liver function |
ORPHA:570422 |
Sialuria |
|
Hepatomegaly, Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Cholel... |
ORPHA:3166 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
Congenital Toxoplasmosis |
|
Elevated circulating hepatic transaminase concentration, Ascites, Abnormality of retinal pigmenta... |
ORPHA:858 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Diarrhea, Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concen... |
OMIM:608836 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Inflammation of the large intestine, Elevated circulating hepatic tr... |
ORPHA:2137 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Intrahepatic cholestasis, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase ... |
OMIM:614887 |
Martinez-Frias Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Hypoplasia of the gal... |
OMIM:601346 |
Hemochromatosis, Type 1 |
|
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Ascites, Azoospermia, Sp... |
OMIM:235200 |
Hijazi-Reis Syndrome |
|
Hyperbilirubinemia, Gastroesophageal reflux, Chronic constipation |
OMIM:301094 |
Mitchell-Riley Syndrome |
|
Diarrhea, Annular pancreas, Pancreatic hypoplasia, Cholestasis, Hyperbilirubinemia, Absent gallbl... |
OMIM:615710 |
Mulibrey Nanism |
|
Pigmentary retinopathy, Ascites, Astigmatism, Cardiomegaly, Pericardial constriction, Hepatomegal... |
OMIM:253250 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Inflammation of the large intestine, Elevated circulating hepatic tran... |
ORPHA:562639 |
Alpha-Thalassemia |
|
Cholelithiasis, Hepatosplenomegaly, Hypersplenism, Splenomegaly, Pericardial effusion, Jaundice |
ORPHA:846 |
Gaucher Disease Type 1 |
|
Splenic infarction, Cholelithiasis, Hepatic failure, Ascites, Hepatosplenomegaly, Hypersplenism, ... |
ORPHA:77259 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hyperlipidemia, Splenomegaly, Portal hypertension, Biliary tract abn... |
ORPHA:1414 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia, Vomiting, Urinary hesitancy, Nocturia, Urinary incontinence, Urinary... |
OMIM:609727 |
Wilson Disease |
|
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c... |
OMIM:277900 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Cholesterol gallstones, Macro... |
ORPHA:209902 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... |
ORPHA:79301 |
8P Inverted Duplication/Deletion Syndrome |
|
Precocious puberty, Abnormal heart morphology, Tetralogy of Fallot, Cryptorchidism, Aplasia/Hypop... |
ORPHA:96092 |
Neurooculocardiogenitourinary Syndrome |
|
Peters anomaly, Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardio... |
OMIM:618652 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... |
OMIM:619658 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Incr... |
OMIM:603553 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Diarrhea, Vomiting, Elevated circulating hepatic transaminase concentration,... |
ORPHA:542323 |
Primary Sclerosing Cholangitis |
|
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepati... |
ORPHA:171 |
Meckel Syndrome, Type 6 |
|
Hepatic fibrosis, Absent gallbladder, Hepatic cysts, Abnormal internal genitalia, Bile duct proli... |
OMIM:612284 |
Hardikar Syndrome |
|
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Hypersplenism, Cirrhosi... |
OMIM:301068 |
Primary Biliary Cholangitis |
|
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul... |
ORPHA:186 |
Long-Olsen-Distelmaier Syndrome |
|
Cataract, Microspherophakia, Dilated cardiomyopathy, Secundum atrial septal defect, Elevated circ... |
OMIM:620609 |
Pentalogy Of Cantrell |
|
Polysplenia, Tetralogy of Fallot, Abnormal pericardium morphology, Absent gallbladder, Ventricula... |
ORPHA:1335 |
Hereditary Spherocytosis |
|
Cholelithiasis, Restrictive cardiomyopathy, Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:822 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating 18-hydroxycortisone level, Failure to thrive, Hyponatremia, Increased circu... |
OMIM:610600 |
Graft Versus Host Disease |
|
Diarrhea, Vomiting, Failure to thrive, Elevated circulating hepatic transaminase concentration, H... |
ORPHA:39812 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Splenomegaly, Abnormal urinary color |
ORPHA:90037 |
Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Retin... |
OMIM:309300 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Pigmentary retinopathy, Cataract, Optic disc drusen, Hepatomegaly |
OMIM:204000 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cataract, Retinal coloboma, Hypogonadism, External genital hypoplasia, Cryptorchidism |
ORPHA:363741 |
Laurence-Moon Syndrome |
|
Cataract, Cryptorchidism, Congenital hepatic fibrosis, Displacement of the urethral meatus, Hypop... |
ORPHA:2377 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology |
ORPHA:3032 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Cardiomegaly, He... |
OMIM:600649 |
Hypermanganesemia With Dystonia 1 |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota... |
OMIM:613280 |
Cataract-Microcornea Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
Triploidy |
|
Cataract, Hypospadias, Abnormality of the gallbladder, Cryptorchidism, Ambiguous genitalia, Abnor... |
ORPHA:3376 |
Somatostatinoma |
|
Intrahepatic cholestasis, Gastrointestinal hemorrhage, Diarrhea, Increased circulating cortisol l... |
ORPHA:97283 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Micropenis, Decreased testicular size, Cholelithiasis, Cryptorchidism |
OMIM:300534 |
Lathosterolosis |
|
Hepatic fibrosis, Intrahepatic cholestasis, Cataract, Elevated circulating aspartate aminotransfe... |
OMIM:607330 |
Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... |
OMIM:617319 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Hyperbilirubinemia, Renal insufficiency |
ORPHA:713 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplastic left heart, Cataract, Cryptorchidism, Ventricular septal defect, Ambiguous genitalia,... |
ORPHA:2772 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Splenomegaly, Prolonged neonatal jaundice, Jaundice, Decreased glucose-6-phosphate dehydrogenase ... |
OMIM:300908 |
Triosephosphate Isomerase Deficiency |
|
Cholelithiasis, Splenomegaly, Cholecystitis, Optic disc pallor, Prolonged neonatal jaundice, Jaun... |
OMIM:615512 |
Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Biliary cir... |
OMIM:613471 |
Spherocytosis, Type 4 |
|
Jaundice, Hyperbilirubinemia, Splenomegaly |
OMIM:612653 |
Late-Onset Familial Hypoaldosteronism |
|
Vomiting, Failure to thrive, Renal sodium wasting, Hyponatremia, Elevated serum 11-deoxycortisol,... |
ORPHA:556037 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Neonatal hyperbilirubinemia, Diarrhea, Vomiting, Elevated circulating hepatic transaminase concen... |
ORPHA:348 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Decreased testicular size, Hypogonadism, Cataract |
ORPHA:1875 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Abnormal heart morphology, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent ... |
ORPHA:1067 |
Ppoma |
|
Intrahepatic cholestasis, Cholelithiasis, Pituitary adenoma, Abnormal abdomen morphology, Increas... |
ORPHA:97278 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... |
ORPHA:98870 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cholelithiasis, Microcornea, Male urethral meatus stenosis, Ventricular septal defect, Atrial sep... |
ORPHA:464738 |
Amyloidosis, Hereditary Systemic 2 |
|
Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, ... |
OMIM:105200 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia, Abnormality of the lower urinary tract |
ORPHA:101009 |
Cerebrotendinous Xanthomatosis |
|
Cataract, Cholelithiasis, Optic disc pallor |
OMIM:213700 |
Abetalipoproteinemia |
|
Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Vomiting, Failure to thrive, Elevated cir... |
ORPHA:14 |
Fumarase Deficiency |
|
Aminoaciduria, Elevated urine fumaric acid level, Intrahepatic cholestasis, Hepatic failure, Fail... |
OMIM:606812 |
Hemochromatosis, Neonatal |
|
Hepatic fibrosis, Increased circulating iron concentration, Hepatic failure, Increased circulatin... |
OMIM:231100 |
Hemochromatosis, Type 4 |
|
Cataract, Cardiomyopathy, Hepatic steatosis, Cirrhosis, Hepatomegaly |
OMIM:606069 |
Steinfeld Syndrome |
|
Abnormal heart morphology, Iris coloboma, Absent gallbladder, Retinal coloboma |
OMIM:184705 |
Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Constipation, Prol... |
ORPHA:95716 |
Neuraminidase Deficiency |
|
Cataract, Cardiomyopathy, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly |
OMIM:256550 |
Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase conc... |
OMIM:212140 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatosplenomegaly, Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, Hepatomegaly, We... |
OMIM:613673 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract, Hepatosplenomegaly |
OMIM:273680 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria, Hyperbilirubinemia |
OMIM:266120 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, P... |
OMIM:618052 |
Fetal Cytomegalovirus Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, J... |
ORPHA:294 |
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Hypogonadism, Cataract, Cryptorchidism, Retinal coloboma |
OMIM:601794 |
Early-Onset Familial Hypoaldosteronism |
|
Vomiting, Failure to thrive, Renal sodium wasting, Hyponatremia, Elevated serum 11-deoxycortisol,... |
ORPHA:556030 |
Overhydrated Hereditary Stomatocytosis |
|
Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Jaundice |
OMIM:185000 |
Pyruvate Carboxylase Deficiency |
|
Neonatal hyperbilirubinemia, Vomiting, Failure to thrive, Hyperammonemia, Hyperglutamatemia, Hype... |
ORPHA:3008 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Anterior pituitary agenesis, Hypoplastic tricuspid valve, Pancreatic hypoplasia, Congenital defec... |
ORPHA:2255 |
Congenital Rubella Syndrome |
|
Cataract, Splenomegaly, Aplasia/Hypoplasia of the iris, Ventricular septal defect, Abnormality of... |
ORPHA:290 |
Spherocytosis, Type 2 |
|
Jaundice, Hyperbilirubinemia, Splenomegaly |
OMIM:616649 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis |
ORPHA:171876 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... |
OMIM:619849 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane, Retinal detachment |
OMIM:620253 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Jaundice, Hyperbilirubinemia, Splenomegaly |
OMIM:616689 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly, Elevated circulating hepatic transaminase concentration |
OMIM:619064 |
Glycogen Storage Disease Ixc |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... |
OMIM:613027 |
Megaloblastic Anemia, Folate-Responsive |
|
Hyperbilirubinemia, Hyperhomocystinemia, Increased circulating ferritin concentration |
OMIM:601775 |
Trisomy 8P |
|
Annular pancreas, Tetralogy of Fallot, Abnormal left ventricle morphology, Cryptorchidism, Astigm... |
ORPHA:264450 |
Grfoma |
|
Intrahepatic cholestasis, Cholelithiasis, Pituitary adenoma, Abnormal abdomen morphology, Increas... |
ORPHA:97261 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrho... |
OMIM:208540 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect |
OMIM:619170 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Abnormal heart morphology, Decreased testicular size, External genital hypoplasia, Cryp... |
ORPHA:1867 |
Trichohepatoneurodevelopmental Syndrome |
|
Cholelithiasis, Decreased liver function, Exocrine pancreatic insufficiency, Splenomegaly, Astigm... |
OMIM:618268 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Cataract, Dilated cardiomyopathy, Hepatic steatosis, Pancreatitis, Elevated circulating alanine a... |
OMIM:618805 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hyperbilirubinemia, Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, Small for gestationa... |
OMIM:224120 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation |
OMIM:607361 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Abnormal urinary color |
ORPHA:90036 |
Meckel Syndrome, Type 7 |
|
Aortic valve stenosis, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Situs inversus totalis... |
OMIM:267010 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cataract, Clitoral hypertrophy, Pigmentary retinopathy, Abnormal heart morphology, Opacification ... |
OMIM:214110 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... |
ORPHA:860 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Neonatal hyperbilirubinemia, Failure to thrive, Small for gestational age, Truncal obesity |
ORPHA:73272 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat... |
ORPHA:131 |
Hypogonadism-Cataract Syndrome |
|
Hypogonadism, Cataract, Male hypogonadism, Elevated circulating follicle stimulating hormone level |
OMIM:240950 |
Dehydrated Hereditary Stomatocytosis |
|
Portal vein thrombosis, Cholelithiasis, Splenomegaly, Intermittent jaundice |
ORPHA:3202 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Genitopalatocardiac Syndrome |
|
Abnormal mesentery morphology, Abnormality of the gallbladder, Cryptorchidism, Male pseudohermaph... |
ORPHA:2075 |
Coats Disease |
|
Cataract, Retinal detachment, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris |
ORPHA:190 |
Bachmann-Bupp Syndrome |
|
Large for gestational age, Hyperbilirubinemia |
OMIM:619075 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... |
OMIM:607626 |
Hereditary Elliptocytosis |
|
Prolonged neonatal jaundice, Jaundice, Cholelithiasis, Splenomegaly |
ORPHA:288 |
Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia, Jaundice |
OMIM:268150 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy,... |
OMIM:300280 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Total absence of the pericardium, Hypoplastic tricuspid valve, Pancreatic hypoplasia, Tetralogy o... |
OMIM:600001 |
Metachromatic Leukodystrophy |
|
Hemobilia, Neoplasm of the gallbladder, Abnormal gallbladder morphology |
ORPHA:512 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Bohring-Opitz Syndrome |
|
Optic atrophy, Cholelithiasis, Annular pancreas, Cardiomegaly, Retinal atrophy, Abnormal cardiac ... |
ORPHA:97297 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Chronic kidney disease, Nephritis, Hepatic fibrosis, Renal insufficiency, Proteinuria, Renal cyst... |
OMIM:208500 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Neonatal hyperbilirubinemia, Failure to thrive, Abnormal circulating thyroglobulin concentration,... |
ORPHA:90674 |
Corticosterone Methyloxidase Type I Deficiency |
|
Vomiting, Failure to thrive, Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulatin... |
OMIM:203400 |
Porphyria, Congenital Erythropoietic |
|
Cholelithiasis, Conjunctivitis, Corneal scarring, Splenomegaly, Hepatomegaly, Jaundice |
OMIM:263700 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hypospadias, Failure to thrive, Cholestasis, Elevated circulating phytanic acid concentration, He... |
OMIM:614866 |
Liver Disease, Severe Congenital |
|
Diarrhea, Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenici... |
OMIM:619991 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Portal hypertension, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, C... |
ORPHA:465508 |
Refsum Disease, Classic |
|
Cardiomegaly, Cataract, Cardiomyopathy, Retinal degeneration |
OMIM:266500 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Diarrhea, Vomiting, Failure to thrive, Portal fibrosis, Elevated circulating he... |
ORPHA:264580 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Precocious puberty, Cholelithiasis, Myopic astigmatism, Hepatosplenomegaly, Cholecystitis, Hepato... |
OMIM:301066 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute kidney injury, Diarrhea, Vomiting, Anuria, Acute colitis, Elevated circulating creatinine c... |
ORPHA:90038 |
Fucosidosis |
|
Hepatomegaly, Abnormality of the gallbladder, Cardiomegaly, Corneal opacity |
ORPHA:349 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Lens subluxation, Cataract, Retinal detachment, Lattice retinal degeneration |
OMIM:614292 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hypospadias |
OMIM:300712 |
Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Portal fibrosis, Secretory diarrhea, Failure to thrive, Cholestasis, Increased ... |
OMIM:619377 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Optic atrophy, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly, Pericardial effusion |
OMIM:614702 |
Galactosemia I |
|
Cataract, Decreased liver function, Elevated circulating aspartate aminotransferase concentration... |
OMIM:230400 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Ascites... |
OMIM:115197 |
22Q11.2 Deletion Syndrome |
|
Cataract, Cholelithiasis, Optic atrophy, Abnormality of the uterus, Tetralogy of Fallot, Abnormal... |
ORPHA:567 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Gastroesophageal reflux, Vomiting, Failure to thrive, Elevated circulating hepat... |
OMIM:613658 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Cataract |
ORPHA:3137 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Hepatic steatosis, Car... |
OMIM:201475 |
Cirrhotic Cardiomyopathy |
|
Conjunctival icterus, Ascites, Cardiomegaly, Left atrial enlargement, Left ventricular hypertroph... |
ORPHA:57777 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pupillary membra... |
ORPHA:91495 |
Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Cholelithiasis, Juvenile cataract, Prolonged neonatal jaundice, Optic disc pallor,... |
ORPHA:909 |
Sickle Cell Anemia |
|
Splenic infarction, Cholelithiasis, Pigment gallstones, Abnormality of the spleen, Jaundice |
ORPHA:232 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Aortic valve calcification, Bacterial endocarditis, Cholelithiasis, Hepatic fibrosis, Abnormality... |
ORPHA:2072 |
Gaucher Disease |
|
Aortic valve calcification, Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Abnor... |
ORPHA:355 |
Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia, Prolonged neonatal jaundice |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia, Prolonged neonatal jaundice |
ORPHA:529799 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Renal Fanconi syndr... |
ORPHA:53693 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Microcornea, Iris coloboma, Remnants of the hyaloid vascular system |
ORPHA:231736 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Abnormality of the liver, Hyperbilirubinemia, Abnormal... |
ORPHA:464321 |
Exfoliation Syndrome |
|
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... |
OMIM:177650 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Renal salt wasting, Increased circulating renin level |
OMIM:619406 |
Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hepatic steato... |
ORPHA:42 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly |
OMIM:252920 |
Metachromatic Leukodystrophy |
|
Urinary incontinence, Gallbladder dysfunction, Cholecystitis |
OMIM:250100 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Vomiting, Diarrhea, Failure to thrive, Hyperaldosteronism, Hyponatremia, Hyperkalemia, Increased ... |
OMIM:177735 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Astigmatism, Cardiomegal... |
OMIM:617713 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Chronic kidney disease, Decreased circulating iron concentration, Acute kidney injury, Glycosuria... |
ORPHA:447 |
Gaucher Disease, Type Iiic |
|
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... |
OMIM:231005 |
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Proximal tubulopathy, Increased serum prostaglandin E2, Vomiting, Hypokalemia, Abnormal magnesium... |
OMIM:241150 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Micropenis, ... |
ORPHA:163979 |
Yellow Fever |
|
Acute kidney injury, Diarrhea, Vomiting, Anuria, Pancreatic hyperplasia, Elevated circulating cre... |
ORPHA:99829 |
Rh Deficiency Syndrome |
|
Jaundice, Hepatosplenomegaly, Hyperbilirubinemia, Reduced haptoglobin level |
ORPHA:71275 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morph... |
ORPHA:324410 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dilatation of the renal pelvis, Cholestasis, Dark urine, Hyperbilirubinemia, Congenital hepatic f... |
OMIM:619534 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Constipation, Increased circulating thy... |
ORPHA:90673 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Hepatitis, Cholestasis, J... |
ORPHA:60 |
Bartter Syndrome, Type 1, Antenatal |
|
Renal juxtaglomerular cell hypertrophy/hyperplasia, Diarrhea, Renal salt wasting, Renal potassium... |
OMIM:601678 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... |
OMIM:255120 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior chamber, Persis... |
OMIM:221900 |
Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatic fibrosis, Diarrhea, Failure to thrive, Parotitis, Cholestasis, Elevated circulating aspar... |
OMIM:620376 |
Bartter Syndrome Type 4 |
|
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Small for gestational age, Failure... |
ORPHA:89938 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal heart valve morphology, Hyper... |
ORPHA:77293 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... |
OMIM:225200 |
Congenital Disorder Of Glycosylation, Type Iiaa |
|
Unilateral renal agenesis, Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of... |
OMIM:620454 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Pancreatic hypoplasia, Cryptorchidism, Biliary hyperplasia, Perimembranous ventri... |
ORPHA:83617 |
Aniridia 2 |
|
Cataract, Optic atrophy, Aniridia, Lens subluxation, Iris coloboma |
OMIM:617141 |
Aniridia-Absent Patella Syndrome |
|
Cataract, Aniridia, Cryptorchidism |
ORPHA:1069 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Uterus didelphys, Tetralogy of Fallot, Septate vagina, Absent gallbladder, Complete atrioventricu... |
OMIM:617925 |
Cranioectodermal Dysplasia 2 |
|
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Poly... |
OMIM:613610 |
Gaisböck Syndrome |
|
Nephrocalcinosis, Hypernatriuria, Obesity, Cholecystitis, Hyperuricemia, Hypercholesterolemia, Hy... |
ORPHA:90041 |
Mogs-Cdg |
|
Optic atrophy, Hepatosplenomegaly, External genital hypoplasia, Cardiomegaly, Left ventricular hy... |
ORPHA:79330 |
Argininemia |
|
Vomiting, Portal fibrosis, Micronodular cirrhosis, Oroticaciduria, Cholestasis, Hyperammonemia, H... |
OMIM:207800 |
Heterotaxy, Visceral, 1, X-Linked |
|
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... |
OMIM:306955 |
Ciliary Dyskinesia, Primary, 53 |
|
Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... |
OMIM:620642 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Tetralogy of Fallot, Iris coloboma, Overriding aorta, Absent gallbladder |
ORPHA:3186 |
Congenital Disorder Of Glycosylation, Type It |
|
Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulating hepatic transaminase conce... |
OMIM:614921 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:301083 |
Igg4-Related Kidney Disease |
|
Chronic kidney disease, Urethritis, Abnormal mesentery morphology, Hematuria, Weight loss, Elevat... |
ORPHA:449395 |
Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... |
ORPHA:3092 |
Bartter Syndrome, Type 3 |
|
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Hyperaldosteronism, Increased urinary potassiu... |
OMIM:607364 |
Interstitial Lung And Liver Disease |
|
Aminoaciduria, Hepatic fibrosis, Hepatic failure, Vomiting, Intraalveolar phospholipid accumulati... |
OMIM:615486 |
Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology |
ORPHA:293807 |
Steinert Myotonic Dystrophy |
|
Cholelithiasis, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, ... |
ORPHA:273 |
Digeorge Syndrome |
|
Cholelithiasis, Parathyroid hypoplasia, Tetralogy of Fallot, Hepatic steatosis, Splenomegaly, Tru... |
OMIM:188400 |
Rh-Null, Amorph Type |
|
Hyperbilirubinemia |
OMIM:617970 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatic failure, Hepatosplenomegaly, Hyperbilirubinemia, Hypocalcemia, Splenomegaly, Hepatomegaly |
OMIM:259720 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly |
OMIM:619051 |
Chromosome Xp11.3 Deletion Syndrome |
|
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Cryptorchidism |
OMIM:300578 |
Williams Syndrome |
|
Megalocornea, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Polycystic ovarie... |
ORPHA:904 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Vomiting, Hyperaldosteronism, Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Hepatosplenomegaly,... |
OMIM:602782 |
Alkaptonuria |
|
Aortic valve stenosis, Aortic valve calcification, Abnormal heart valve morphology, Black pigment... |
ORPHA:56 |
Joubert Syndrome 6 |
|
Hepatic fibrosis, Bile duct proliferation, Retinal degeneration |
OMIM:610688 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Splenomegaly, Hepatomegaly, Jaundice, Hyperkalemia, Conjugated hyperbilirubinemia |
OMIM:608885 |
Meckel Syndrome, Type 4 |
|
Atrial septal defect, Bile duct proliferation, Ventricular septal defect |
OMIM:611134 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ascites, Ventricular septal defect, Cardiomegaly, Micropenis, Hyposp... |
OMIM:616897 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia |
ORPHA:1068 |
Vacterl/Vater Association |
|
Bifid scrotum, Abnormal morphology of female internal genitalia, Abnormality of the gallbladder, ... |
ORPHA:887 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
ORPHA:99931 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Cholecystitis, Intermittent jaundice, Biliary tract obstruction, Weight l... |
ORPHA:100086 |
Distal Xq28 Microduplication Syndrome |
|
Neonatal hyperbilirubinemia |
ORPHA:293939 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Cataract, Abnormality of retinal pigmentation, Retinal detachment, Lens subluxation, Microphakia |
ORPHA:171844 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly, Retinal degeneration |
ORPHA:391428 |
Vitreoretinal Degeneration, Snowflake Type |
|
Corneal guttata, Cataract, Retinal detachment, Snowflake vitreoretinal degeneration |
OMIM:193230 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... |
OMIM:269400 |
Degcags Syndrome |
|
Chronic kidney disease, Renal hypoplasia, Gastroesophageal reflux, Bilateral renal dysplasia, Bil... |
OMIM:619488 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Pancreatic aplasia |
ORPHA:556955 |
Autosomal Dominant Keratitis |
|
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... |
ORPHA:2334 |
Tetrasomy 9P |
|
Absent gallbladder, Cryptorchidism, Patent foramen ovale, Abnormal mitral valve morphology, Bilia... |
ORPHA:3310 |
Trisomy 10P |
|
Abnormal heart morphology, Rectovaginal fistula, Absent gallbladder |
ORPHA:171929 |
Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Optic atrophy, Elevated circulating hepatic transaminase concentration, Decreased liver function,... |
OMIM:618329 |
Double Outlet Left Ventricle |
|
Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valv... |
ORPHA:3427 |
Cantu Syndrome |
|
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion |
OMIM:239850 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Optic atrophy, Cardiomyopathy, Increased hepatic glycogen content |
OMIM:619259 |
Proteus-Like Syndrome |
|
Cataract, Thymus hyperplasia, Abnormality of the parathyroid gland, Abnormal pupil morphology, Sp... |
ORPHA:2969 |
Bartter Syndrome, Type 2, Antenatal |
|
Renal juxtaglomerular cell hypertrophy/hyperplasia, Diarrhea, Renal salt wasting, Renal potassium... |
OMIM:241200 |
Morning Glory Disc Anomaly |
|
Cataract, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
Coronary Arterial Fistula |
|
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... |
ORPHA:2041 |
Timothy Syndrome |
|
Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect |
OMIM:601005 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Vomiting, Elevated circulating hepatic transaminase concentration, Failure to thrive, Obesity, Hy... |
OMIM:619475 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Diarrhea, Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular hepatic ... |
OMIM:618278 |
Transketolase Deficiency |
|
Cataract, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Atrial sept... |
ORPHA:488618 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Cataract, Microcornea, Cryptorchidism, Micropenis, Optic nerve hypop... |
OMIM:610125 |
Peters-Plus Syndrome |
|
Cataract, Hypospadias, Peters anomaly, Retinal coloboma, Cryptorchidism, Biliary tract abnormalit... |
OMIM:261540 |
Peutz-Jeghers Syndrome |
|
Biliary tract neoplasm, Gastrointestinal hemorrhage, Vomiting, Pancreatic adenocarcinoma, Abnorma... |
ORPHA:2869 |
Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Microphthalmia/Coloboma 12 |
|
Peters anomaly, Optic disc coloboma, Optic nerve aplasia, Remnants of the hyaloid vascular system... |
OMIM:120200 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Exocrine pancreatic insufficiency, Absent gallbladder, Elevated circulating alanine aminotransfer... |
OMIM:618500 |
Norrie Disease |
|
Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria,... |
OMIM:310600 |
Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
Histiocytoid Cardiomyopathy |
|
Optic atrophy, Megalocornea, Congenital aphakia, Polycystic ovaries, Cardiomegaly, Ventricular se... |
ORPHA:137675 |
Neurooculorenal Syndrome |
|
Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hyperechogenic ki... |
OMIM:620305 |
Ring Chromosome 13 Syndrome |
|
Bifid scrotum, Ambiguous genitalia, Urogenital sinus anomaly, Hypoplasia of the gallbladder, Micr... |
ORPHA:96176 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia |
OMIM:613986 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... |
OMIM:610256 |
Congenital Erythropoietic Porphyria |
|
Red-brown urine, Purple urine, Increased urinary porphobilinogen, Abnormal circulating porphyrin ... |
ORPHA:79277 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation |
OMIM:611561 |
Isolated Right Ventricular Hypoplasia |
|
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... |
ORPHA:439 |
Zttk Syndrome |
|
Optic atrophy, Absent gallbladder, Atrial septal defect, Ventricular septal defect |
OMIM:617140 |
Ogden Syndrome |
|
Diarrhea, Vomiting, Hyperbilirubinemia, Microvesicular hepatic steatosis, Global glomeruloscleros... |
OMIM:300855 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Jaundice, Hepatosplenomegaly, Conjugated hyperbilirubinemia |
ORPHA:168577 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Clitoral hypertrophy, Hypospadias, Peters anomaly, Pigmentary retinopathy, Histiocytoid... |
OMIM:309801 |
Amoebic Keratitis |
|
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... |
ORPHA:1329 |
Meckel Syndrome |
|
Accessory spleen, Cataract, Microcornea, Optic atrophy, Situs inversus totalis, Cryptorchidism, C... |
ORPHA:564 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... |
OMIM:300971 |
Aorta Coarctation |
|
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... |
ORPHA:1457 |
Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Cryptorchidism, Cardiom... |
OMIM:130650 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Labial hypertrophy, Cryptorchidism, Ventricular septal defect, Cardiomegaly, ... |
ORPHA:96191 |
Sandhoff Disease |
|
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly |
OMIM:268800 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatic failure, Cardiomyopathy, Hepatic steatosis, Cardiomegaly, Hepatic calcification, Abnormal... |
ORPHA:228308 |
X-Linked Intellectual Disability, Nascimento Type |
|
Neonatal hyperbilirubinemia, Vesicoureteral reflux, Chronic constipation, Micropenis, Hypospadias |
ORPHA:163956 |
Mucopolysaccharidosis Type 3 |
|
Cataract, Pigmentary retinopathy, Optic atrophy, Splenomegaly, Abnormal aortic valve morphology, ... |
ORPHA:581 |
Hereditary Hemorrhagic Telangiectasia |
|
Cholelithiasis, Hepatic failure, Portal hypertension, Cholecystitis, Hepatic arteriovenous malfor... |
ORPHA:774 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly, Cryptorchidism |
OMIM:618143 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cataract, Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Ascites, Cardio... |
OMIM:261740 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hepatic fibrosis, Periportal fibrosis, Cholestasis, Ascites, Hepatosplenomegaly, Hypersplenism, P... |
ORPHA:731 |
Alagille Syndrome 1 |
|
Cataract, Hepatic failure, Elevated circulating hepatic transaminase concentration, Microcornea, ... |
OMIM:118450 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Elevated circulating ala... |
ORPHA:308552 |
Fanconi Anemia, Complementation Group Q |
|
Primum atrial septal defect, Biliary atresia |
OMIM:615272 |
Rett Syndrome |
|
Hyperammonemia, Increased serum pyruvate, Failure to thrive, Cholecystitis |
ORPHA:778 |
Gaucher Disease, Perinatal Lethal |
|
Hepatic failure, Ascites, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly |
OMIM:608013 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hyperbilirubinemia, Increased circulating thyroglobulin concentration, Constipation |
OMIM:218700 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... |
ORPHA:363705 |
Meckel Syndrome, Type 2 |
|
Bile duct proliferation |
OMIM:603194 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Renal hypoplasia, Gastroesophageal reflux, Failure to thrive, Hyperbilirubinemia, Prolonged neona... |
OMIM:210710 |
Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
Neutral Lipid Storage Myopathy |
|
Elevated circulating hepatic transaminase concentration, Abnormal circulating creatine kinase con... |
ORPHA:98908 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Cataract, Peters anomaly, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dy... |
OMIM:614643 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Hepatic sinusoidal dilatation, Splenic cyst, Cryptorchidism, Patent foramen ovale, Cardiomegaly, ... |
OMIM:620371 |
Microphthalmia, Syndromic 2 |
|
Aortic valve stenosis, Hypospadias, Microcornea, Septate vagina, Cryptorchidism, Mitral valve pro... |
OMIM:300166 |
Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect |
OMIM:617022 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Nodular regenerative hyperplasia of liver, Hepatic failure, Portal hypertension, Cholecystitis, S... |
OMIM:620367 |
Q Fever |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatosplenomegaly, Abnormali... |
ORPHA:781 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
Pierson Syndrome |
|
Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body... |
OMIM:609049 |
Metachromatic Leukodystrophy, Adult Form |
|
Optic atrophy, Neoplasm of the gallbladder, Cholecystitis |
ORPHA:309271 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Optic atrophy, Abnormal heart morphology, Absent gallbladder, Atrial septal defect, Optic nerve h... |
ORPHA:500150 |
Johanson-Blizzard Syndrome |
|
Intrahepatic cholestasis, Hepatic fibrosis, Urethrovaginal fistula, Hepatic failure, Failure to t... |
OMIM:243800 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Oculopalatocerebral Syndrome |
|
Leukocoria, Remnants of the hyaloid vascular system |
OMIM:257910 |
Danon Disease |
|
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... |
OMIM:300257 |
Oculo-Palato-Cerebral Syndrome |
|
Cataract, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system |
ORPHA:2714 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:165550 |
Wolf-Hirschhorn Syndrome |
|
Hypospadias, Optic atrophy, Abdominal situs inversus, Megalocornea, Abnormal heart valve morpholo... |
ORPHA:280 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly, Glandular hypospadias |
OMIM:620306 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... |
OMIM:245600 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Cataract, Band keratopathy, Hepatitis, Exocrine pancreatic insufficiency, Keratoconjunctivitis, C... |
OMIM:269200 |
D-Bifunctional Protein Deficiency |
|
Fetal ascites, Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatic stea... |
OMIM:261515 |
Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Abnormal heart morphology, Tetralogy of Fallot, Heterochromia i... |
ORPHA:42775 |
Amyloidosis, Hereditary Systemic 1 |
|
Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
Aniridia 1 |
|
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... |
OMIM:106210 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormality of the hepatic vasculature, Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atr... |
ORPHA:1677 |
Norrie Disease |
|
Cataract, Optic atrophy, Ectopia lentis, Uterine rupture, Hypoplasia of the iris, Abnormal pupil ... |
ORPHA:649 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,... |
OMIM:203700 |
Naxos Disease |
|
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... |
OMIM:601214 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
Atelis Syndrome 2 |
|
Supravalvar pulmonary stenosis, Developmental cataract, Pulmonic stenosis, Remnants of the hyaloi... |
OMIM:620185 |
Fucosidosis |
|
Hepatomegaly, Tortuosity of conjunctival vessels, Cardiomegaly, Splenomegaly |
OMIM:230000 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:232300 |
Mucolipidosis Ii Alpha/Beta |
|
Megalocornea, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Opacificatio... |
OMIM:252500 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology |
ORPHA:1517 |
Meckel Syndrome, Type 1 |
|
Malformation of the hepatic ductal plate, Accessory spleen, Abnormality of the uterus, Ambiguous ... |
OMIM:249000 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Gastroesophageal reflux |
OMIM:620186 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Cryptorchidism, Pa... |
OMIM:300967 |
Hyperferritinemia With Or Without Cataract |
|
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract |
OMIM:600886 |
Smith-Lemli-Opitz Syndrome |
|
Cataract, Hypospadias, Clitoral hypertrophy, Optic atrophy, Atrioventricular canal defect, Abnorm... |
ORPHA:818 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... |
OMIM:620066 |
Kawasaki Disease |
|
Hypoalbuminemia, Diarrhea, Sterile pyuria, Hepatitis, Cholecystitis, Proteinuria, Elevated circul... |
ORPHA:2331 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated circulating hepatic transaminase concentration, Increased hepatic echogenicity, Tetralog... |
OMIM:619525 |
Aicardi-Goutières Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Hepatosplen... |
ORPHA:51 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
Truncus Arteriosus |
|
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Truncus arterios... |
ORPHA:3384 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Neonatal hyperbilirubinemia, Gastroesophageal reflux, Vesicovaginal fistula, Ureteropelvic juncti... |
OMIM:300896 |
Listeriosis |
|
Acute kidney injury, Vomiting, Diarrhea, Pyelonephritis, Cholecystitis, Peritonitis, Jaundice, He... |
ORPHA:533 |
Yunis-Varon Syndrome |
|
Cataract, Clitoral hypertrophy, Cardiomyopathy, Tetralogy of Fallot, Cryptorchidism, Ventricular ... |
ORPHA:3472 |
Familial Adenomatous Polyposis |
|
Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Biliary tract obstruction, Hepatoblastoma, ... |
ORPHA:733 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly, Opacification of the corneal stroma |
ORPHA:79280 |
Beckwith-Wiedemann Syndrome |
|
Visceromegaly, Abnormal pancreas morphology, Hypertrophic cardiomyopathy, Exocrine pancreatic ins... |
ORPHA:116 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatic failure, Diarrhea, Parotitis, Cholecystitis, Splenomegaly, Elevated circulating creatine ... |
ORPHA:99827 |
Congenital Tracheomalacia |
|
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... |
ORPHA:95430 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Peritoneal abscess, Hepatitis, Ventricular septal defect, Hypoplasia of the thymus, Abnormal duct... |
ORPHA:436252 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Urinary incontinence, Cholecystitis |
ORPHA:309256 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Viral hepatitis, Recurrent urinary tract infections, Chronic gastritis, Cholecystitis, Cholangiti... |
ORPHA:183675 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Right ventricular hypertrophy |
ORPHA:268 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:208000 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Parotitis, Punctate opacification of the... |
OMIM:256040 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Urinary incontinence, Cholecystitis |
ORPHA:309263 |
Absence Of The Pulmonary Artery |
|
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... |
ORPHA:980 |
Interatrial Communication |
|
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... |
ORPHA:1478 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Elevated circulating ala... |
ORPHA:365 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve, Abnormality iris morphology |
ORPHA:91387 |
Neuroocular Syndrome 1 |
|
Cataract, Microcornea, Peters anomaly, Patent foramen ovale, Blue irides, Remnants of the hyaloid... |
OMIM:619539 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... |
ORPHA:99125 |
Acromelic Frontonasal Dysostosis |
|
Hypopituitarism, Cryptorchidism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
Tropical Endomyocardial Fibrosis |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Ascites, Right ventri... |
ORPHA:75565 |
Neurofibroma |
|
Enlargement of parotid gland, Abnormal biliary tract morphology |
ORPHA:252183 |
Full Nf2-Related Schwannomatosis |
|
Posterior subcapsular cataract, Cortical cataract, Remnants of the hyaloid vascular system |
ORPHA:637 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Ascites, Retinal hemorrhage, Cardiomegaly, Pancreatic calcification, Hep... |
ORPHA:51608 |
Holoprosencephaly 2 |
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Anterior pituitary agenesis, Iris coloboma, Remnants of the hyaloid vascular system, Single ventr... |
OMIM:157170 |
Singleton-Merten Syndrome 1 |
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Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Mitral valve calcification, Subv... |
OMIM:182250 |