Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:294 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619874 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly |
ORPHA:79281 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Hepatomegaly |
OMIM:605911 |
Pediatric Hepatocellular Carcinoma |
|
Hepatic fibrosis, Hepatomegaly, Hepatic necrosis |
ORPHA:33402 |
Glycogen Storage Disease Ixb |
|
Increased hepatic glycogen content, Hepatomegaly |
OMIM:261750 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cryptorchidism, Cataract |
OMIM:274205 |
Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
Cataract 20, Multiple Types |
|
Membranous cataract, Cataract |
OMIM:116100 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly |
OMIM:615158 |
Hemochromatosis, Neonatal |
|
Hepatocellular necrosis, Hepatic failure, Cirrhosis, Cholestasis, Hepatic fibrosis, Prolonged neo... |
OMIM:231100 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly |
ORPHA:882 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly |
OMIM:613978 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Splenomegaly |
OMIM:606445 |
Spastic Paraparesis And Deafness |
|
Cataract, Hypogonadism |
OMIM:312910 |
Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 18 |
|
Cataract |
OMIM:610019 |
African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... |
ORPHA:139507 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly |
OMIM:609016 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract, Micropenis |
OMIM:610156 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Abnormality of the pancreas, Abnormal liver parenchyma morphology |
ORPHA:3032 |
Systemic Primary Carnitine Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
ORPHA:158 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Glycogen Storage Disease Vi |
|
Increased hepatic glycogen content, Elevated hepatic transaminase, Hepatomegaly |
OMIM:232700 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Infertility, Cataract |
OMIM:300719 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatitis, Hepatomegaly, Jaundice, Hepatic failure |
ORPHA:60 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract, Hypogonadism |
OMIM:254000 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy, Cataract |
ORPHA:2253 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... |
OMIM:251880 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly |
ORPHA:2398 |
Nephronophthisis 19 |
|
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation |
OMIM:616217 |
Mulibrey Nanism |
|
Hepatomegaly |
ORPHA:2576 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Hepatomegaly |
OMIM:614882 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Ele... |
OMIM:619232 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver |
ORPHA:1980 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Jaundice, Splenomegaly |
OMIM:237800 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Elevated circulating aspartate aminotransferase concentration, Hepatomegaly, Jaundice |
OMIM:614876 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Choles... |
OMIM:620010 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... |
OMIM:619849 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ... |
ORPHA:79301 |
Retinitis Pigmentosa 59 |
|
Elevated hepatic transaminase, Hepatomegaly |
OMIM:613861 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatic necrosis, Hepatic steatosis, Fulminant hepatic failure |
OMIM:231530 |
Hypogonadism-Cataract Syndrome |
|
Infertility, Cataract, Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating... |
OMIM:240950 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... |
OMIM:602347 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Jaundice |
OMIM:613977 |
Morm Syndrome |
|
Cataract, Retinal atrophy, Micropenis |
ORPHA:75858 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly |
ORPHA:2432 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Cataract |
OMIM:165300 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, Hepatic fibrosis, Por... |
OMIM:616278 |
Galactose Mutarotase Deficiency |
|
Decreased liver function, Hepatomegaly, Cholestasis |
ORPHA:570422 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic failure |
OMIM:616719 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... |
OMIM:301045 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver ... |
OMIM:214900 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:79238 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary... |
OMIM:210500 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly |
ORPHA:417 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Hypospadias, Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism |
ORPHA:1381 |
Galactosemia Ii |
|
Cataract, Galactosuria |
OMIM:230200 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Hepatic steatosis, Cardiomegaly |
OMIM:201475 |
Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Retinal detachment, Megalocornea, Astigmatism, Iridod... |
OMIM:309300 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment, Cataract |
OMIM:147610 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Cataract, Decreased testicular size, Hypogonadism |
ORPHA:1875 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly |
OMIM:603902 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Immunodeficiency 48 |
|
Hepatomegaly, Splenomegaly |
OMIM:269840 |
Galactosemia Iii |
|
Hepatomegaly, Jaundice, Splenomegaly |
OMIM:230350 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Splenomegaly |
OMIM:607685 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Ascites, Hepatomegaly, Jaundice |
ORPHA:890 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:619868 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis |
OMIM:613313 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cataract, Cryptorchidism, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
External genital hypoplasia, Retinal coloboma, Cataract, Hypogonadism, Cryptorchidism |
ORPHA:363741 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatomegaly, Hepatic failure, Fulminant hepatitis, Elevated hepatic transaminase, Jaundice |
OMIM:618549 |
Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... |
OMIM:617394 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Giant cell hepatitis, Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Intrahepatic ... |
OMIM:214950 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Intermittent jaundice, Pancreatitis, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice |
OMIM:243300 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic steatosis, Hepatomegaly, Hepatic failure |
OMIM:617872 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... |
ORPHA:52901 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly |
OMIM:133180 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Cholelithiasis, Hepatomegaly, Jaundice, Intrahepatic cholestasis |
OMIM:605479 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepatitis,... |
OMIM:613812 |
3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly |
ORPHA:67046 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Hepatic failure, Cholestasis, Elevated hepatic transaminase, Jaundice |
OMIM:618528 |
Isolated Polycystic Liver Disease |
|
Polycystic liver disease, Hepatomegaly, Abnormality of the pancreas |
ORPHA:2924 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly |
OMIM:608971 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:618234 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Hepatomegaly |
OMIM:618224 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Decreased liver function, Hepatomegaly |
OMIM:614870 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly |
ORPHA:172 |
Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... |
OMIM:617319 |
Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hepatocellular carcinoma, Elevated circulating alanine aminotransferase concentrati... |
OMIM:603471 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Jaundice |
ORPHA:75234 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane |
OMIM:225200 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Retinal coloboma, Cryptorchidism, Cataract, Hypogonadism |
OMIM:601794 |
Combined Saposin Deficiency |
|
Hepatomegaly, Splenomegaly |
OMIM:611721 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenome... |
OMIM:616828 |
Retinitis Pigmentosa 84 |
|
Macular coloboma, Cataract, Macular atrophy |
OMIM:618220 |
Sandhoff Disease |
|
Hepatomegaly, Splenomegaly |
ORPHA:796 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Ascites, Hepatomegaly |
OMIM:619433 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Cataract |
OMIM:619813 |
Retinitis Pigmentosa |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypoplasia of penis, Abnormality of retinal pigmenta... |
ORPHA:791 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract, Aminoaciduria, Premature ovarian insufficiency |
ORPHA:2278 |
Leigh Syndrome |
|
Hepatocellular necrosis |
OMIM:256000 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Renal tubular dysfunction, Cataract |
ORPHA:1380 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly |
OMIM:615285 |
Cataract 9, Multiple Types |
|
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract |
OMIM:604219 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Splenomegaly |
OMIM:618852 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... |
ORPHA:64743 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Peripapillary atrophy, Cataract, Macular degeneration |
OMIM:618195 |
Martsolf Syndrome 2 |
|
Hypogonadotropic hypogonadism, Cataract, Developmental cataract |
OMIM:619420 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Cholestasis, Splenomegaly |
OMIM:105200 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Primary amenorrhea, Absence of secondary sex characteristics, Sec... |
ORPHA:2410 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cryptorchidism, Cataract |
ORPHA:2489 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality |
ORPHA:234 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... |
OMIM:619463 |
Carcinoid Syndrome |
|
Elevated hepatic transaminase, Hepatic necrosis |
ORPHA:100093 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatic steatosis, Pancreatitis, Hepatomegaly |
ORPHA:79084 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carcinoma, Elevated h... |
ORPHA:369 |
Senior-Loken Syndrome |
|
Chronic kidney disease, Abnormality of retinal pigmentation, Nephronophthisis, Cataract, Stage 5 ... |
ORPHA:3156 |
Cataract 47 |
|
Glycosuria, Cataract, Microcornea |
OMIM:612018 |
Cystic Fibrosis |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Biliary cirrhosis |
ORPHA:586 |
Coats Disease |
|
Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract |
ORPHA:190 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly |
OMIM:610717 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Jaundice, Cholestasis |
OMIM:614887 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatic periportal necrosis, Hepatic steatosis, Hepatomegaly, Jaundice |
OMIM:231680 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans... |
OMIM:613027 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Interm... |
OMIM:601847 |
Wagr Syndrome |
|
Ambiguous genitalia, Cataract, Displacement of the urethral meatus, Cryptorchidism, Aplasia/Hypop... |
ORPHA:893 |
Propionic Acidemia |
|
Hepatomegaly |
ORPHA:35 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Lens subluxation, Cataract |
OMIM:614292 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosplenomegaly, Elevated hepatic transaminase, Elevate... |
OMIM:616860 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Retinal detachment, Posterior embryotoxon, Hematuria, Optic atrophy, Iris colobo... |
ORPHA:1473 |
Wagner Vitreoretinopathy |
|
Optic atrophy, Retinal pigment epithelial atrophy, Cataract, Peripheral tractional retinal detach... |
OMIM:143200 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Portal hypertension, Neonatal c... |
ORPHA:1414 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly |
ORPHA:66661 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, Intrahepatic cholesta... |
OMIM:235555 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly |
OMIM:615234 |
Dysplastic Cortical Hyperostosis |
|
Hepatomegaly, Splenomegaly |
ORPHA:2204 |
Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase concentration, Sclerosin... |
OMIM:619662 |
Klatskin Tumor |
|
Cholangiocarcinoma, Hepatomegaly, Extrahepatic cholestasis, Jaundice |
ORPHA:99978 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Type II diabetes mellitus, Abnormality of retinal pigmentation, Hypergonadotrop... |
ORPHA:3085 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Posterior lenticonus, Microcornea, Iris coloboma |
ORPHA:231736 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly |
OMIM:615924 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Jaundice, Splenomegaly |
OMIM:121300 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Unilateral renal agene... |
OMIM:308750 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic tr... |
OMIM:607765 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Ascites, Hepatomegaly |
ORPHA:2198 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... |
OMIM:308700 |
Aniridia 2 |
|
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia |
OMIM:617141 |
Retinopathy, Pigmentary, And Mental Retardation |
|
Cataract, Pigmentary retinopathy, Hypogonadism |
OMIM:268050 |
Wolfram Syndrome 1 |
|
Testicular atrophy, Hydroureter, Pigmentary retinopathy, Hypothyroidism, Optic atrophy, Cataract,... |
OMIM:222300 |
Laurence-Moon Syndrome |
|
Type II diabetes mellitus, Hypoplasia of penis, Iris coloboma, Cataract, Renal insufficiency, Dis... |
ORPHA:2377 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice |
ORPHA:59303 |
Kennedy Disease |
|
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility |
ORPHA:481 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly |
OMIM:306000 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:612526 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Elevated hepatic transaminase |
OMIM:246900 |
Gaucher Disease Type 2 |
|
Hepatomegaly, Splenomegaly |
ORPHA:77260 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Left ventricular hypertrophy, Elevated circulating aspartate aminotransferase conce... |
OMIM:619048 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly |
OMIM:614859 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Cataract |
OMIM:613801 |
Alpha-Heavy Chain Disease |
|
Ascites, Hepatomegaly, Splenomegaly |
ORPHA:100025 |
Aniridia-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Cataract, Ectopia lentis, Aniridia |
ORPHA:1068 |
Microcephaly, Amish Type |
|
Hepatomegaly |
OMIM:607196 |
Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly |
ORPHA:79292 |
Meckel Syndrome, Type 3 |
|
Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate |
OMIM:607361 |
Caroli Disease, Isolated |
|
Cholangitis, Hepatomegaly, Liver abscess, Portal hypertension |
OMIM:600643 |
Stickler Syndrome Type 2 |
|
Corneal opacity, Retinal detachment, Cataract |
ORPHA:90654 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatic necrosis, Hepatic steatosis, Acute hepatic failure |
ORPHA:71212 |
Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly |
OMIM:615085 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Acute hepatic failure, Splenomegaly, Cirrhosis, Peritonitis, Cholecystitis, Elevate... |
ORPHA:131 |
Retinitis Pigmentosa 37 |
|
Cystoid macular degeneration, Cataract, Pigmentary retinopathy |
OMIM:611131 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract |
OMIM:610092 |
Hemochromatosis, Type 2A |
|
Cirrhosis, Hepatomegaly, Splenomegaly |
OMIM:602390 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Jaundice, Splenomegaly |
OMIM:185000 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly |
ORPHA:100024 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Acute pancreatitis, Elevated hepatic transaminase, Hepati... |
ORPHA:26791 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Iris coloboma, Retinal detachment, Cataract, Macular atrophy |
OMIM:212550 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Splenomegaly |
OMIM:608540 |
Hemochromatosis, Type 4 |
|
Cirrhosis, Hepatic steatosis, Hepatomegaly |
OMIM:606069 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cholestasis, Elevated hepatic transaminase, He... |
OMIM:618641 |
Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly |
OMIM:601979 |
Myopia 28, Autosomal Recessive |
|
Retinal detachment, Cataract |
OMIM:619781 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy |
OMIM:180104 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly |
OMIM:610539 |
Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Cataract |
OMIM:616468 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis, Cardiomegaly |
OMIM:600649 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatic fibrosis, Hepatomegaly |
OMIM:232400 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Jaundice, Intrahepatic cholestasis with ep... |
OMIM:211600 |
Hepatocellular Carcinoma |
|
Abnormality of the hepatic vasculature, Hepatomegaly, Hemobilia, Elevated hepatic transaminase, P... |
ORPHA:88673 |
Cataract 1, Multiple Types |
|
Nuclear cataract, Posterior subcapsular cataract, Microcornea, Pulverulent cataract, Developmenta... |
OMIM:116200 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly |
ORPHA:28 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Pancreatitis, Hepatomegaly, Hepatic ... |
OMIM:618805 |
Infantile Liver Failure Syndrome 1 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Acute hepatic failure |
OMIM:615438 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transaminase |
OMIM:613489 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Jaundice, Splenomegaly |
OMIM:603552 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:42642 |
Vitreoretinal Degeneration, Snowflake Type |
|
Snowflake vitreoretinal degeneration, Retinal detachment, Cataract, Corneal guttata |
OMIM:193230 |
Persistent Hyperplastic Primary Vitreous |
|
Remnants of the hyaloid vascular system, Corneal opacity, Shallow anterior chamber, Buphthalmos, ... |
ORPHA:91495 |
Diffuse Neonatal Hemangiomatosis |
|
Patent ductus arteriosus, Ascites, Hepatomegaly |
ORPHA:2123 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
Exfoliation Syndrome |
|
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... |
OMIM:177650 |
Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly, Splenomegaly |
OMIM:610333 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Jaundice, Splenomegaly |
OMIM:615631 |
Coloboma, Ocular, Autosomal Dominant |
|
Remnants of the hyaloid vascular system, Corneal opacity, Optic disc coloboma, Peters anomaly, Op... |
OMIM:120200 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Hepatomegaly |
OMIM:614741 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Hepatomegaly, Abnormality of the liver |
ORPHA:254864 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Hepatomegaly |
OMIM:615704 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hepatomegaly, Splenomegaly |
OMIM:618107 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly |
ORPHA:369840 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Splenomegaly |
OMIM:607616 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Elevated hepatic transaminase, Ascites, Jaundice, Cardiomegaly |
ORPHA:858 |
Mitochondrial Myopathy, Infantile, Transient |
|
Hepatomegaly |
OMIM:500009 |
Harderoporphyria |
|
Prolonged neonatal jaundice, Hepatomegaly, Splenomegaly |
OMIM:618892 |
Aniridia-Absent Patella Syndrome |
|
Cryptorchidism, Cataract, Aniridia |
ORPHA:1069 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Cirrhosis, Macrovesicular ... |
OMIM:256810 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly |
OMIM:617713 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic failure, Cirrhosis, Acute hepatic failur... |
OMIM:278000 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis |
OMIM:614924 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Splenomegaly |
OMIM:605309 |
Cataract 15, Multiple Types |
|
Nuclear cataract, Lamellar cataract, Cataract, Developmental cataract, Cortical cataract |
OMIM:615274 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Remnants of the hyaloid vascular system, Corneal opacity, Shallow anterior chamber, Buphthalmos, ... |
OMIM:221900 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Cataract, Hypogonadism |
OMIM:160900 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatic steatosis, Hepatomegaly |
OMIM:615238 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Microcornea, Aniridia |
OMIM:106230 |
Medullary Thyroid Carcinoma |
|
Abnormal liver parenchyma morphology |
ORPHA:1332 |
Polycystic Kidney, Cataract, And Congenital Blindness |
|
Hypoplasia of the retina, Microcoria, Polycystic kidney dysplasia, Cataract |
OMIM:263100 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatitis, Hepatomegaly, Splenomegaly |
OMIM:300635 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:614582 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract, Persistent pupillary membrane |
ORPHA:1067 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Retinal detachment, Cataract |
ORPHA:171844 |
Leber Congenital Amaurosis 8 |
|
Nummular pigmentation of the fundus, Pigmentary retinopathy, Keratoconus, Cataract, Macular coloboma |
OMIM:613835 |
Morning Glory Disc Anomaly |
|
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Optic disc coloboma |
ORPHA:35737 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatocellular necrosis, Microvesicular hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Card... |
OMIM:618278 |
Warburg Micro Syndrome 2 |
|
Small scrotum, Micropenis, Microcornea, Optic atrophy, Cataract, Developmental cataract, Cryptorc... |
OMIM:614225 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transami... |
ORPHA:567983 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Cholestasis, Enlarged kidney, Hepatic fibrosis, Asplenia |
OMIM:615415 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly |
OMIM:266150 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Enlarged kidney |
OMIM:613496 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Jaundice |
OMIM:613839 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatosplenomegaly, Hepatomegaly, Splenomegaly |
OMIM:611490 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated hepatic transaminase, Decreased carnitine level in liver, Hepatic steatosi... |
OMIM:212140 |
Caroli Disease |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated ... |
ORPHA:53035 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Splenomegaly |
OMIM:231000 |
Wolman Disease |
|
Ascites, Hepatomegaly, Splenomegaly, Hepatic failure |
ORPHA:75233 |
Lipodystrophy, Familial Partial, Type 1 |
|
Acute pancreatitis, Hepatomegaly |
OMIM:608600 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly |
ORPHA:1759 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Nephrocalcinosis, Cataract |
OMIM:146200 |
Mpi-Cdg |
|
Decreased liver function, Hepatic fibrosis, Hepatomegaly, Portal hypertension |
ORPHA:79319 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly |
OMIM:613561 |
Galactosemia I |
|
Decreased liver function, Hepatomegaly, Cirrhosis, Elevated circulating aspartate aminotransferas... |
OMIM:230400 |
Microphthalmia, Syndromic 5 |
|
Micropenis, Optic nerve hypoplasia, Microcornea, Ectopic posterior pituitary, Cataract, Cryptorch... |
OMIM:610125 |
Warburg Micro Syndrome 3 |
|
Shallow anterior chamber, Micropenis, Microcornea, Optic atrophy, Hypoplastic labia minora, Catar... |
OMIM:614222 |
Wilson Disease |
|
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepa... |
ORPHA:905 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Jaundice, Splenomegaly |
OMIM:612714 |
Pleural Mesothelioma |
|
Hepatomegaly |
ORPHA:50251 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Splenomegaly |
ORPHA:163596 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:93476 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Cardiomegaly |
OMIM:255120 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Hepatitis, Jaundice |
OMIM:194380 |
Congenital Pulmonary Lymphangiectasia |
|
Ascites, Hepatomegaly, Splenomegaly |
ORPHA:2414 |
Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Hepatomegaly, Splenomegaly |
OMIM:207750 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea |
OMIM:269400 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hepatic failure, Elevated circulating alanine aminotransferase concentration, Hepat... |
OMIM:261680 |
Cold Agglutinin Disease |
|
Hepatomegaly, Splenomegaly |
ORPHA:56425 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Cholecystitis, Jaundice |
OMIM:266200 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly |
OMIM:201450 |
Autosomal Dominant Keratitis |
|
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... |
ORPHA:2334 |
Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Hepatomegaly, Splenomegaly |
ORPHA:848 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, A... |
OMIM:235200 |
Hypermanganesemia With Dystonia 1 |
|
Cirrhosis, Hepatomegaly, Decreased liver function, Elevated hepatic transaminase |
OMIM:613280 |
Hereditary Bullous Dystrophy, Macular Type |
|
Corneal opacity, External genital hypoplasia, Cataract, Decreased testicular size, Cryptorchidism |
ORPHA:1867 |
Peters Anomaly |
|
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... |
ORPHA:708 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Splenomegaly |
OMIM:614470 |
Chanarin-Dorfman Syndrome |
|
Hepatic steatosis, Hepatomegaly |
OMIM:275630 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly |
ORPHA:158029 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hepatomegaly, Jaundice, Splenomegaly |
OMIM:608885 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Jaundice, Splenomegaly |
OMIM:616689 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Pancreatic fibrosis, Hyperechogenic pancreas, Malformation... |
OMIM:208540 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:37748 |
Coloboma, Ocular, Autosomal Recessive |
|
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract |
OMIM:216820 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Splenomegaly, Enlarged kidney, Hepatic cysts, Portal hypertens... |
OMIM:263200 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Splenomegaly |
OMIM:618495 |
Liver Failure, Infantile, Transient |
|
Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Macrovesicular hepatic ste... |
OMIM:613070 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatomegaly, Hepatic failure, Cholestasis, Elevated hepatic transaminase, ... |
ORPHA:79303 |
Bardet-Biedl Syndrome 9 |
|
Retinal degeneration, Irregular menstruation, Astigmatism, Cataract, Renal insufficiency, Bone sp... |
OMIM:615986 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly |
ORPHA:98848 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Splenomegaly |
OMIM:240500 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly |
OMIM:607594 |
Developmental And Epileptic Encephalopathy 102 |
|
Hepatomegaly |
OMIM:619881 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatosplenomegaly, Hepatomegaly, Splenomegaly |
OMIM:612840 |
Norrie Disease |
|
Corneal opacity, Shallow anterior chamber, Buphthalmos, Retinal detachment, Opacification of the ... |
OMIM:310600 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure |
ORPHA:156 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Splenomegaly |
OMIM:230900 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Vaginal neoplasm, Cataract, Uterine leiomyoma, Uterine leiomyosarcoma |
ORPHA:523 |
Porphyria Cutanea Tarda |
|
Viral hepatitis, Periportal fibrosis, Chronic hepatitis, Hepatocellular carcinoma, Elevated hepat... |
ORPHA:101330 |
Amoebic Keratitis |
|
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... |
ORPHA:67043 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Hepatomegaly |
ORPHA:422 |
Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... |
OMIM:610256 |
Acute Liver Failure |
|
Hepatocellular necrosis, Elevated hepatic transaminase, Hepatitis, Hepatic periportal necrosis, H... |
ORPHA:90062 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract |
OMIM:600881 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Decreased liver function, Hepatomegaly, Hepatic failure, Cirrhosis, Hepatosplenomegaly, Elevated ... |
ORPHA:367 |
Micro Syndrome |
|
Abnormality of retinal pigmentation, Hypoplasia of penis, Retinal coloboma, Clitoral hypoplasia, ... |
ORPHA:2510 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea |
OMIM:619082 |
Isolated Biliary Atresia |
|
Decreased liver function, Hepatomegaly, Periportal fibrosis, Splenomegaly, Cirrhosis, Cholestasis... |
ORPHA:30391 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hepatomegaly |
ORPHA:79085 |
Lymphoproliferative Syndrome 2 |
|
Hepatosplenomegaly, Ascites, Hepatomegaly, Splenomegaly |
OMIM:615122 |
Transaldolase Deficiency |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Hepatosp... |
OMIM:606003 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Splenomegaly |
OMIM:619375 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Cholestasis, Hepatic fibrosis |
OMIM:615630 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly |
OMIM:609981 |
Trichohepatoenteric Syndrome 2 |
|
Cirrhosis, Chronic hepatitis, Hepatomegaly |
OMIM:614602 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Hepatomegaly |
ORPHA:50812 |
Farber Lipogranulomatosis |
|
Hepatomegaly, Splenomegaly |
OMIM:228000 |
X-Linked Lymphoproliferative Disease |
|
Decreased liver function, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Fulminant hepatitis,... |
ORPHA:2442 |
Chromosome Xp11.3 Deletion Syndrome |
|
Posterior subcapsular cataract, Pigmentary retinopathy, Optic atrophy, Cataract, Cryptorchidism |
OMIM:300578 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Splenomegaly |
ORPHA:85414 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Cholelithiasis, Hypoparathyroidism, Adrenal insufficiency, Decreased circulating aldosterone leve... |
OMIM:240300 |
Peroxisome Biogenesis Disorder 10B |
|
Cataract, Nephrocalcinosis, Neurogenic bladder |
OMIM:617370 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Hyperechogen... |
ORPHA:456312 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Cirrhosis, Hepatic fibrosis, Hepatomegaly, Hepatic failure |
OMIM:602579 |
Alport Syndrome 2, Autosomal Recessive |
|
Nephrotic syndrome, Nephritis, Hematuria, Cataract, Renal insufficiency, Proteinuria, Anterior le... |
OMIM:203780 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:79477 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly |
ORPHA:391 |
Pierson Syndrome |
|
Remnants of the hyaloid vascular system, Nephrotic syndrome, Diffuse mesangial sclerosis, Retinal... |
OMIM:609049 |
Microphthalmia With Brain And Digit Anomalies |
|
Abnormality of the hypothalamus-pituitary axis, Microcornea, Iris coloboma, Cataract, Cryptorchid... |
ORPHA:139471 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Pancreatitis, Hepatomegaly |
ORPHA:435651 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Microcornea, Optic atrophy, Iris coloboma, Cataract, Septo-optic dy... |
ORPHA:3301 |
Tangier Disease |
|
Left ventricular hypertrophy, Hepatomegaly, Splenomegaly |
OMIM:205400 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Cholestatic liver disease, Giant cell hepatitis, Hepatomegaly, Right ventricular hypertrophy, Ele... |
OMIM:613404 |
Papillorenal Syndrome |
|
Nephrolithiasis, Chronic kidney disease, Absence of renal corticomedullary differentiation, Macul... |
OMIM:120330 |
Desmoplastic Small Round Cell Tumor |
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Neoplasm of the pancreas, Ascites, Hepatomegaly, Abnormality of the peritoneum |
ORPHA:83469 |
Familial Isolated Hypoparathyroidism |
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Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Nephropathy, Cataract |
ORPHA:2238 |
Isolated Aniridia |
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Peters anomaly, Cataract, Aniridia |
ORPHA:250923 |
Cataract 5, Multiple Types |
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Nuclear cataract, Zonular cataract, Anterior polar cataract, Lamellar cataract, Pulverulent cataract |
OMIM:116800 |
Mucopolysaccharidosis, Type Iiib |
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Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:252920 |
Combined D-2- And L-2-Hydroxyglutaric Aciduria |
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Hepatomegaly |
OMIM:615182 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
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Hepatomegaly, Splenomegaly |
OMIM:619183 |
Oculopalatocerebral Syndrome |
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Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
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Hepatomegaly |
OMIM:614862 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
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Hepatomegaly, Jaundice, Cholangitis |
OMIM:607626 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
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Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly |
OMIM:615381 |
Caroli Syndrome |
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Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Hepatic failure, Cirrhosis, Congenital hepatic fi... |
ORPHA:480520 |
Coach Syndrome 1 |
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Abnormal abdomen morphology, Hepatomegaly, Intrahepatic bile duct dilatation, Splenomegaly, Cirrh... |
OMIM:216360 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
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Testicular atrophy |
OMIM:601163 |
Combined Oxidative Phosphorylation Deficiency 4 |
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Hepatomegaly |
OMIM:610678 |
Nodular Non-Suppurative Panniculitis |
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Hepatomegaly, Splenomegaly |
ORPHA:33577 |
Beta-Thalassemia Intermedia |
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Cholelithiasis, Decreased liver function, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosplenomega... |
ORPHA:231222 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
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Hepatomegaly, Splenomegaly |
OMIM:618541 |
Heme Oxygenase 1 Deficiency |
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Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:614034 |
Joubert Syndrome 8 |
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Hepatomegaly, Prolonged neonatal jaundice |
OMIM:612291 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
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Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hepatic failure |
ORPHA:228305 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
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Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Cholestasis, Hepatocellular aden... |
ORPHA:370 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
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Testicular atrophy, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Cat... |
OMIM:157640 |
Optic Nerve Hypoplasia, Bilateral |
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Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia |
OMIM:165550 |
Interstitial Lung And Liver Disease |
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Hepatomegaly, Hepatic failure, Cirrhosis, Elevated circulating aspartate aminotransferase concent... |
OMIM:615486 |
Aa Amyloidosis |
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Hepatomegaly, Cholestasis, Enlarged kidney |
ORPHA:85445 |
Cryoglobulinemic Vasculitis |
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Abnormality of the liver, Hepatomegaly, Viral hepatitis, Splenomegaly |
ORPHA:91138 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
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Hepatomegaly |
OMIM:619053 |
Peroxisome Biogenesis Disorder 1B |
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Cirrhosis, Hepatic fibrosis, Hepatomegaly |
OMIM:601539 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
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Aminoaciduria, Optic atrophy, Renal hypoplasia, Cataract, Hydronephrosis |
OMIM:617913 |
Reynolds Syndrome |
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Cirrhosis, Ascites, Hepatomegaly, Jaundice |
ORPHA:779 |
Cystic Echinococcosis |
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Cholestatic liver disease, Hepatomegaly, Peritoneal abscess, Abnormality of the pancreas, Hepatic... |
ORPHA:400 |
Fanconi-Bickel Syndrome |
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Hepatomegaly, Hepatic failure, Increased hepatic glycogen content, Hepatocellular carcinoma, Elev... |
ORPHA:2088 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
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Glycosuria, Renal Fanconi syndrome, Optic atrophy, Optic disc pallor, Cataract, Bone spicule pigm... |
OMIM:268315 |
Scheie Syndrome |
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Hepatomegaly, Splenomegaly |
ORPHA:93474 |
Macrophage Activation Syndrome |
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Decreased liver function, Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransfe... |
ORPHA:158061 |
Aniridia And Absent Patella |
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Cataract, Aniridia |
OMIM:106220 |
Sickle Cell Anemia |
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Cholelithiasis, Hepatomegaly, Splenomegaly, Jaundice, Cardiomegaly |
OMIM:603903 |
Argininemia |
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Portal fibrosis, Hepatomegaly, Micronodular cirrhosis, Cholestasis |
OMIM:207800 |
Immunodeficiency 47 |
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Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Accessory spleen, Eleva... |
OMIM:300972 |
Omenn Syndrome |
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Hepatomegaly, Splenomegaly |
OMIM:603554 |
Hyperlipoproteinemia, Type Id |
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Pancreatitis, Hepatomegaly, Recurrent pancreatitis, Splenomegaly |
OMIM:615947 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
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Hepatomegaly, Jaundice, Hepatic cysts |
OMIM:613095 |
Aarskog-Scott Syndrome |
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Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, Elevated circulat... |
OMIM:305400 |
Primary Hepatic Neuroendocrine Carcinoma |
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Neoplasm of the liver, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Hepatic cys... |
ORPHA:100085 |
Sarcoidosis, Susceptibility To, 2 |
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Hepatomegaly, Splenomegaly |
OMIM:612387 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
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Hepatomegaly, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Splenic cyst, Hepatic ... |
OMIM:610199 |
Niemann-Pick Disease, Type C1 |
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Hepatomegaly, Splenomegaly, Fatal liver failure in infancy, Prolonged neonatal jaundice, Fetal as... |
OMIM:257220 |
Fructose-1,6-Bisphosphatase Deficiency |
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Hepatomegaly |
OMIM:229700 |
Congenital Disorder Of Glycosylation, Type It |
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Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Elevated circulating asparta... |
OMIM:614921 |
Immunodeficiency 92 |
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Cholangitis, Hepatomegaly, Sclerosing cholangitis |
OMIM:619652 |
Pseudo-Torch Syndrome 2 |
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Elevated hepatic transaminase, Patent ductus arteriosus, Ascites, Hepatomegaly |
OMIM:617397 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
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Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal detachment, Peters anoma... |
OMIM:614643 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepatic failure, Elevated... |
OMIM:203700 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Hepatocellular adenoma, Elevated hepatic tran... |
ORPHA:264580 |
Primary Sclerosing Cholangitis |
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Cholelithiasis, Abnormal biliary tract morphology, Cholangiocarcinoma, Pancreatitis, Hepatomegaly... |
ORPHA:171 |
Diaphanospondylodysostosis |
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Abnormal liver lobulation, Enlarged kidney |
OMIM:608022 |
Chromosome 16Q12 Duplication Syndrome |
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Retinal pigment epithelial mottling, Temporal optic disc pallor, Cataract, Anisocoria |
OMIM:619649 |
Oculo-Palato-Cerebral Syndrome |
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Remnants of the hyaloid vascular system, Retinal detachment, Cataract, Leukocoria |
ORPHA:2714 |
Symptomatic Form Of Hemochromatosis Type 1 |
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Amenorrhea, Infertility, Testicular atrophy, Decreased serum testosterone concentration, Hypogona... |
ORPHA:465508 |
Lipe-Related Familial Partial Lipodystrophy |
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Hepatic steatosis, Hepatomegaly |
ORPHA:435660 |
Lesch-Nyhan Syndrome |
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Nephrolithiasis, Hyperuricosuria, Testicular atrophy |
OMIM:300322 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
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Abnormal renal physiology, Nephropathy, Hematuria, Lenticonus, Cataract, Renal insufficiency, Pro... |
OMIM:308940 |
Aniridia 1 |
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Corneal neovascularization, Optic nerve hypoplasia, Ectopia pupillae, Opacification of the cornea... |
OMIM:106210 |
Acrocephalopolydactylous Dysplasia |
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Hepatomegaly, Pancreatic fibrosis, Enlarged kidney, Hepatic fibrosis, Polysplenia, Ascites |
OMIM:200995 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Elevated hepatic transaminase, Hepatomegaly |
OMIM:616026 |
Oculoauricular Syndrome |
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Microphakia, Retinal coloboma, Retinal detachment, Posterior embryotoxon, Microcornea, Iris colob... |
OMIM:612109 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Splenomegaly |
ORPHA:379 |
Cirrhotic Cardiomyopathy |
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Hepatomegaly, Cirrhosis, Left ventricular hypertrophy, Ascites, Jaundice, Cardiomegaly |
ORPHA:57777 |
Norrie Disease |
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Remnants of the hyaloid vascular system, Corneal opacity, Abnormal pupil morphology, Uterine rupt... |
ORPHA:649 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
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Testicular atrophy |
OMIM:613987 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
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Precocious puberty, Hypospadias, Ectopia pupillae, Microcornea, Cataract, Sclerocornea |
OMIM:615877 |
Reynolds Syndrome |
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Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Jaundice, Biliary cirrhosis |
OMIM:613471 |
Gaucher Disease, Type I |
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Hepatomegaly, Hypersplenism, Splenomegaly |
OMIM:230800 |
Glycogen Storage Disease Xii |
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Cholelithiasis, Hepatomegaly, Splenomegaly, Cholecystitis, Elevated circulating alanine aminotran... |
OMIM:611881 |
Gaucher Disease, Type Iiic |
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Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:231005 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly |
ORPHA:100026 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Chordee, Hypoplasia of the uterus, Micropenis, Hypospadias, Ovotestis, Pigmentary retinopathy, Pe... |
OMIM:309801 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Hypoplasia of penis, External genital hypoplasia, Iris coloboma, Cataract, Hypogonadism, Cryptorc... |
ORPHA:2250 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Micronodular cirrhosis |
ORPHA:98907 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Splenomegaly, Prolonged neonatal jaundice |
OMIM:224120 |
Meckel Syndrome |
|
Urethral atresia, Male pseudohermaphroditism, Pancreatic fibrosis, Multicystic kidney dysplasia, ... |
ORPHA:564 |
Familial Tumoral Calcinosis |
|
Hepatomegaly, Splenomegaly |
ORPHA:53715 |
Acquired Generalized Lipodystrophy |
|
Acute pancreatitis, Cirrhosis, Hepatic steatosis, Hepatomegaly |
ORPHA:79086 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Splenomegaly |
OMIM:301078 |
Citrullinemia, Classic |
|
Cirrhosis, Hepatomegaly |
OMIM:215700 |
Glycogen Storage Disease Ib |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Enlarged... |
OMIM:232220 |
Mosaic Trisomy 9 |
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Abnormal liver lobulation, Patent ductus arteriosus, Asplenia |
ORPHA:99776 |
Dysbetalipoproteinemia |
|
Acute pancreatitis, Hepatic steatosis, Hepatomegaly |
ORPHA:412 |
Tyrosinemia, Type I |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Acute hepatic failure, Hepatocellular car... |
OMIM:276700 |
Ppoma |
|
Cholelithiasis, Abnormal abdomen morphology, Neoplasm of the pancreas, Hepatomegaly, Extrahepatic... |
ORPHA:97278 |
Hardikar Syndrome |
|
Decreased liver function, Hepatomegaly, Intrahepatic bile duct cysts, Intrahepatic bile duct dila... |
OMIM:301068 |
Argininosuccinic Aciduria |
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Elevated circulating aspartate aminotransferase concentration, Hepatic fibrosis, Hepatomegaly |
OMIM:207900 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Splenomegaly |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Splenomegaly |
OMIM:233710 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy |
ORPHA:555874 |
Liver Disease, Severe Congenital |
|
Portal inflammation, Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Increased ... |
OMIM:619991 |
Somatostatinoma |
|
Neoplasm of the pancreas, Abnormal abdomen morphology, Gallbladder dysfunction, Hepatomegaly, Ext... |
ORPHA:97283 |
Microphthalmia, Syndromic 2 |
|
Adrenal insufficiency, Remnants of the hyaloid vascular system, Hypospadias, Retinal detachment, ... |
OMIM:300166 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Splenomegaly |
OMIM:233690 |
X-Linked Intellectual Disability, Snyder Type |
|
Testicular atrophy, Hypospadias, Abnormality of the Leydig cells, Ectopic kidney, Cryptorchidism |
ORPHA:3063 |
Cystic Fibrosis |
|
Exocrine pancreatic insufficiency, Pancreatitis, Hepatomegaly, Cirrhosis, Hepatosplenomegaly, Bil... |
OMIM:219700 |
Steinert Myotonic Dystrophy |
|
Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Impotence, Hyperinsulinemia, D... |
ORPHA:273 |
Glycogen Storage Disease Ic |
|
Chronic pancreatitis, Hepatocellular carcinoma, Hepatomegaly, Hepatoblastoma |
OMIM:232240 |
Fructose Intolerance, Hereditary |
|
Hepatomegaly, Jaundice, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis |
OMIM:229600 |
Neurofibromatosis Type 2 |
|
Cortical cataract, Remnants of the hyaloid vascular system, Posterior subcapsular cataract |
ORPHA:637 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormality of the hepatic vasculature, Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy |
ORPHA:1677 |
Sarcoidosis |
|
Decreased liver function, Hepatomegaly, Hepatic failure, Portal hypertension, Abnormal liver pare... |
ORPHA:797 |
Neuroocular Syndrome |
|
Remnants of the hyaloid vascular system, Blue irides, Stellate iris, Microcornea, Peters anomaly,... |
OMIM:619539 |
Holoprosencephaly 2 |
|
Remnants of the hyaloid vascular system, Adrenal hypoplasia, Iris coloboma, Anterior pituitary ag... |
OMIM:157170 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Hepatic fibrosis, Abnormal liver parenchyma morphology |
ORPHA:79318 |