Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... |
OMIM:615395 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility |
ORPHA:488191 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Elevated gamma-gluta... |
OMIM:614480 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
OMIM:300604 |
Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Hepatic steatosis |
OMIM:261650 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:619874 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic s... |
OMIM:616829 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating lactate dehydrogenase concentration, Hepatomegaly, Elevated circulating ala... |
OMIM:605911 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Hepatic steatosis |
OMIM:620357 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis |
OMIM:618400 |
Patent Ductus Venosus |
|
Hepatic steatosis, Decreased liver function |
OMIM:601466 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... |
OMIM:301045 |
Idiopathic Copper-Associated Cirrhosis |
|
Hepatic steatosis, Copper accumulation in liver, Cirrhosis |
ORPHA:209919 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Elevated hepatic transaminase, Cholestatic liver disease |
OMIM:602114 |
Gilbert Syndrome |
|
Elevated hepatic transaminase, Jaundice, Hepatic failure |
OMIM:143500 |
Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Hepatic steatosis, Infertility, Oligozoospermia |
OMIM:615703 |
Rotor Syndrome |
|
Abnormal circulating enzyme concentration or activity, Jaundice, Storage in hepatocytes, Intermit... |
ORPHA:3111 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Increased muscle lipid content |
OMIM:610717 |
Premature Ovarian Failure 13 |
|
Oligomenorrhea, Female infertility, Amenorrhea |
OMIM:617442 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content |
OMIM:232700 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hepatic fibrosis, Infertility, Oligomenorrhea |
ORPHA:280356 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:278000 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... |
OMIM:612310 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... |
OMIM:619232 |
Cholestasis, Intrahepatic, Of Pregnancy, 1 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ... |
OMIM:147480 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hepatic failure, Hepatic steatosis, Hypergonadotropic hypogonadism |
OMIM:617872 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Ele... |
OMIM:619048 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Congenital Macroglossia |
|
Abnormal hepatic glycogen storage |
ORPHA:2430 |
Obesity And Hypopigmentation |
|
Hepatic steatosis |
OMIM:620195 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep... |
OMIM:264470 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Secondary amenorrhea, Hepatic fibrosis... |
OMIM:613313 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hepatic steatosis |
OMIM:612526 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... |
ORPHA:79303 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:615438 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:269600 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Impotence, Hepatic steatosis, Cirrhosis |
OMIM:606069 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis |
ORPHA:436182 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... |
ORPHA:905 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hepatic steatosis, Oligomenorrhea |
OMIM:613877 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... |
ORPHA:139507 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis |
ORPHA:79084 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alkalin... |
OMIM:214900 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated alkaline phosphatase of bone origin, Spleno... |
OMIM:616828 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating lactate dehydrogenase concentr... |
OMIM:600649 |
Gracile Syndrome |
|
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration |
ORPHA:53693 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Pan... |
OMIM:618805 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hepatic steatosis, Irregular menstruation |
OMIM:615238 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Ele... |
OMIM:619386 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Portal inflammat... |
OMIM:602347 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure |
OMIM:618549 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
|
Elevated hepatic transaminase, Portal hypertension |
OMIM:615506 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Cholelithiasis |
OMIM:300752 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis, Elevated circulatin... |
OMIM:619484 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... |
OMIM:613070 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis |
OMIM:615918 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Elevated circulating alanine aminotr... |
OMIM:615381 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, El... |
OMIM:235555 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Oligomenorrhea |
ORPHA:79085 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Increased hepatic echo... |
OMIM:261680 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... |
ORPHA:209902 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatic steatosis |
ORPHA:26792 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatic steatosis, He... |
OMIM:231530 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis |
OMIM:201450 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis |
ORPHA:79087 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:264580 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Hepatic steatosis |
OMIM:608709 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... |
OMIM:605814 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice... |
OMIM:617093 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Cirrhosis, Hepato... |
ORPHA:369 |
3-Methylglutaconic Aciduria, Type V |
|
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... |
OMIM:610198 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... |
ORPHA:65682 |
Bardet-Biedl Syndrome 19 |
|
Hypogonadism, Hepatic steatosis |
OMIM:615996 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:212140 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal circulating enzyme concentration or activity, Hepatic steatosis, Decreased liver function |
ORPHA:70472 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ... |
OMIM:619902 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal lactate dehydrogenase level, Decreased live... |
ORPHA:42 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Hepatic steatosis |
ORPHA:300536 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:618234 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Reduced carnitine O-palmitoyltransferase level, Hepa... |
ORPHA:228305 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
OMIM:251880 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Oligomenorrhea, Pancreatitis |
ORPHA:435651 |
Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... |
ORPHA:261529 |
Lipodystrophy, Familial Partial, Type 3 |
|
Primary amenorrhea, Hepatic steatosis, Oligomenorrhea, Cirrhosis |
OMIM:604367 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Dysmenorrhea, Splenomegaly, Secondary amenorrhea, Primary amenorrhea, Oligomenorrhe... |
ORPHA:79083 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Impotence, Cirrhosis, Amenorrhea |
OMIM:604250 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Increased muscle glycogen content |
OMIM:261750 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatosplenomegaly |
OMIM:619013 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Abnormal circulating enzyme concentration or acti... |
ORPHA:101330 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... |
OMIM:607765 |
Ovarian Dysgenesis 3 |
|
Primary amenorrhea, Female infertility |
OMIM:614324 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... |
OMIM:619463 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:256810 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... |
ORPHA:2137 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... |
ORPHA:69663 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Cirrhosi... |
OMIM:616860 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis |
ORPHA:369840 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:614921 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Cholestasis, Port... |
OMIM:614300 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Cirrhosis |
ORPHA:363400 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Hepatic steatosis |
ORPHA:71 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Dysmenorrhea, Splenomegaly, Secondary amenorrhea, Hepatic steatosis, Pancreatitis |
ORPHA:2348 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... |
OMIM:616433 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis |
OMIM:275630 |
Immunodeficiency 47 |
|
Elevated hepatic transaminase, Hepatomegaly, Accessory spleen, Elevated circulating aspartate ami... |
OMIM:300972 |
Ciliary Dyskinesia, Primary, 37 |
|
Female infertility |
OMIM:617577 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Hepatic steatosis |
ORPHA:210548 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure |
OMIM:611126 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hepatic fibrosis, Hepatic failure... |
ORPHA:541423 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Oligomenorrhea, Cirrhosis, Hepatic steatosis, Amenorrhea |
ORPHA:528 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Oligomenorrhea |
ORPHA:435660 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Mac... |
ORPHA:298 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Elevated hepatic transaminase, Exocrine pancreatic insufficiency |
OMIM:618752 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hepatic steatosis |
OMIM:615980 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Hepatic fibrosis, Hepatic steatosis |
ORPHA:79322 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Delayed ... |
ORPHA:247585 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Periportal fibrosis, Hepatic steatosis, Hepatocellular necrosis |
OMIM:201475 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Increased circulating lactate dehydrogenase concentration, Hepatic steatos... |
ORPHA:99901 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis |
OMIM:212138 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating alkaline phosphatase concentration, Hepatic steatosis |
ORPHA:52430 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogona... |
OMIM:203800 |
Adrenomyodystrophy |
|
Hepatic steatosis |
ORPHA:977 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic failure, Ele... |
ORPHA:2088 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
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Elevated hepatic transaminase, Microvesicular hepatic steatosis, Jaundice, Cholestasis, Elevated ... |
OMIM:617156 |
Isolated Biliary Atresia |
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Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... |
ORPHA:30391 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
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Acute hepatic failure, Elevated hepatic transaminase, Hepatic necrosis, Decreased 3-hydroxyacyl-C... |
ORPHA:71212 |
Neutral Lipid Storage Disease With Ichthyosis |
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Elevated hepatic transaminase, Hepatomegaly, Micronodular cirrhosis, Increased intramyocellular l... |
ORPHA:98907 |
Combined Oxidative Phosphorylation Deficiency 11 |
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Hepatomegaly, Hepatic steatosis, Decreased liver function |
OMIM:614922 |
Fructose-1,6-Bisphosphatase Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Abnormal circulating enzyme conce... |
ORPHA:348 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
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Accessory spleen, Hepatomegaly, Microvesicular hepatic steatosis, Splenomegaly, Macronodular cirr... |
OMIM:619418 |
Combined Oxidative Phosphorylation Deficiency 12 |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
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Elevated hepatic transaminase, Neoplasm of the pancreas, Premature ovarian insufficiency, Hypergo... |
ORPHA:2959 |
Combined Oxidative Phosphorylation Deficiency 37 |
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Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Elevate... |
OMIM:618329 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:608836 |
Aicardi-Goutieres Syndrome 9 |
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Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hepatosplen... |
OMIM:619487 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
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Hepatomegaly, Hepatic periportal necrosis, Hepatic steatosis, Jaundice |
OMIM:231680 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Premature ovarian insufficiency, Irregular menstruation, Female infertility, Amenorrhea |
OMIM:110100 |
Seckel Syndrome 10 |
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Acute pancreatitis, Elevated circulating alanine aminotransferase concentration, Hepatic steatosi... |
OMIM:617253 |
3-Methylglutaconic Aciduria Type 7 |
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Elevated hepatic transaminase, Hepatic steatosis |
ORPHA:445038 |
Cimdag Syndrome |
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Hypogonadism, Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly |
OMIM:619273 |
Congenital Disorder Of Glycosylation, Type Ia |
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Elevated hepatic transaminase, Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic h... |
OMIM:212065 |
Primary Ciliary Dyskinesia |
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Male infertility, Female infertility, Asplenia, Polysplenia, Abnormal sperm motility |
ORPHA:244 |
Neutral Lipid Storage Myopathy |
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Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Chronic pan... |
ORPHA:98908 |
Wilson Disease |
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Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:277900 |
19P13.12 Microdeletion Syndrome |
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Cryptorchidism, Hepatic steatosis |
ORPHA:254346 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Decreased fertility in females, ... |
OMIM:269700 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
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Hepatic steatosis, Pancreatitis |
OMIM:236200 |
Caroli Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Decreased fertility in females, ... |
OMIM:608594 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cholestasis, Hepatosplenomegaly, Elevated ... |
ORPHA:247598 |
Monosomy 13Q34 |
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Metrorrhagia, Hepatic steatosis |
ORPHA:96168 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Splenomegaly |
OMIM:613327 |
Osteootohepatoenteric Syndrome |
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Microvesicular hepatic steatosis, Cholestasis, Portal fibrosis, Hepatic fibrosis, Prolonged neona... |
OMIM:619377 |
Dilated Cardiomyopathy With Ataxia |
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Elevated hepatic transaminase, Microvesicular hepatic steatosis, Bilateral cryptorchidism |
ORPHA:66634 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
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Hepatomegaly, Dysmenorrhea, Splenomegaly, Secondary amenorrhea, Hepatic steatosis, Pancreatitis |
ORPHA:280365 |
D-Bifunctional Protein Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal... |
OMIM:261515 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... |
ORPHA:562639 |
Tyrosinemia, Type Iii |
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Elevated hepatic transaminase |
OMIM:276710 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
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Hepatomegaly, Diffuse hepatic steatosis, Decreased liver function |
ORPHA:436271 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Hepatomegaly, Hepatic calcification, Reduced carnitine O-palmitoyltransferase level, Hepatic fail... |
ORPHA:228308 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
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Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Elevat... |
OMIM:124000 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
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Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocr... |
ORPHA:93111 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
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Acute hepatic steatosis |
OMIM:210200 |
Lysosomal Acid Lipase Deficiency |
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Elevated hepatic transaminase, Fatal liver failure in infancy, Hypersplenism, Microvesicular hepa... |
ORPHA:275761 |
Acquired Generalized Lipodystrophy |
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Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Cirrhosis |
ORPHA:79086 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:619525 |
Familial Chylomicronemia Syndrome |
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Acute pancreatitis, Jaundice, Hepatosplenomegaly, Recurrent pancreatitis, Hepatic steatosis |
ORPHA:444490 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
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Irregular menstruation, Hepatic steatosis, Abnormal libido |
ORPHA:189427 |
Fructose Intolerance, Hereditary |
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Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cirrhosis, Hepatic steatosis, Reduced hepa... |
OMIM:229600 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hepatomegaly, Abnormal circulating enzyme concentration or activity, Irregular menstruation, Hepa... |
ORPHA:79259 |
Dysbetalipoproteinemia |
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Hepatomegaly, Acute pancreatitis, Hepatic steatosis |
ORPHA:412 |
Mitochondrial Trifunctional Protein Deficiency |
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Diffuse hepatic steatosis, Chronic hepatic failure, Cholestasis |
ORPHA:746 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
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Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... |
OMIM:203700 |
Combined Oxidative Phosphorylation Deficiency 27 |
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Microvesicular hepatic steatosis |
OMIM:616672 |
Bloom Syndrome |
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Cryptorchidism, Azoospermia, Hepatic steatosis, Decreased fertility in females |
OMIM:210900 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
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Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis |
OMIM:615356 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
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Hepatomegaly, Increased hepatocellular lipid droplets, Decreased liver function, Increased intram... |
OMIM:220110 |
Immunodeficiency 87 And Autoimmunity |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... |
OMIM:619573 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:17 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Jaundice, Lipid accumulation in ... |
ORPHA:20 |
3-Methylglutaconic Aciduria, Type Viib |
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Hepatic steatosis |
OMIM:616271 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
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Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis, Exocrine pancreatic insuf... |
OMIM:616263 |
Abetalipoproteinemia |
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Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic steatosis |
ORPHA:14 |
Mucopolysaccharidosis-Plus Syndrome |
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Splenomegaly, Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:617303 |
Pearson Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Macronodular cirr... |
ORPHA:699 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Elevated hepatic transaminase, Portal hypertension, Cholestasis, Bile duct proliferation, Decreas... |
OMIM:613658 |
Liver Disease, Severe Congenital |
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Elevated hepatic transaminase, Hepatomegaly, Biliary hyperplasia, Intrahepatic cholestasis, Jaund... |
OMIM:619991 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Elevated hepatic transaminase, Premature ovarian insufficiency, Female infertility, Biliary cirrh... |
ORPHA:99413 |
Turner Syndrome |
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Elevated hepatic transaminase, Premature ovarian insufficiency, Female infertility, Biliary cirrh... |
ORPHA:881 |
Mosaic Monosomy X |
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Elevated hepatic transaminase, Premature ovarian insufficiency, Female infertility, Biliary cirrh... |
ORPHA:99228 |
Monosomy X |
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Elevated hepatic transaminase, Premature ovarian insufficiency, Female infertility, Biliary cirrh... |
ORPHA:99226 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
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Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
Lipodystrophy, Familial Partial, Type 2 |
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Hepatomegaly, Acute pancreatitis, Hepatic steatosis |
OMIM:151660 |
Arima Syndrome |
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Hepatic steatosis, Hepatic fibrosis, Cirrhosis, Hepatomegaly |
OMIM:243910 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Nodular regenerative hyperplasia of liver, Microvesi... |
ORPHA:404454 |
Aicardi-Goutieres Syndrome 7 |
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Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatitis |
OMIM:615846 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
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Hepatomegaly, Microvesicular hepatic steatosis, Elevated circulating alkaline phosphatase concent... |
OMIM:300868 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Hepatomegaly, Microvesicular hepatic steatosis, Hepatosplenomegaly, Hepatocellular necrosis |
OMIM:618278 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
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Hepatic steatosis |
OMIM:619934 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Elevated hepatic transaminase, Jaundice, Hepatic steatosis |
OMIM:619475 |
Smith-Lemli-Opitz Syndrome |
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Hepatomegaly, Cryptorchidism, Splenomegaly, Cholestatic liver disease, Cirrhosis, Hepatic steatosis |
OMIM:270400 |
Atypical Werner Syndrome |
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Premature ovarian insufficiency, Decreased fertility, Secondary amenorrhea, Hypogonadism, Abnorma... |
ORPHA:79474 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Hypoplasia of the ovary, Hepatic steatosis, Decreased testicular size |
OMIM:619321 |
Ogden Syndrome |
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Microvesicular hepatic steatosis, Jaundice, Cryptorchidism, Hydrocele testis, Macrovesicular hepa... |
OMIM:300855 |
1P36 Deletion Syndrome |
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Cryptorchidism, Abnormality of the spleen, Abnormality of the liver, Hypogonadism, Annular pancre... |
ORPHA:1606 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:619127 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Portal hypertension, Cryptorchidism, Cholestasis, Hepatosplenomegaly, Hepatic steatosis |
OMIM:619503 |
Alström Syndrome |
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Hypoplasia of the Leydig cells, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Hepat... |
ORPHA:64 |
Digeorge Syndrome |
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Hydrocele testis, Cholelithiasis, Hepatic steatosis, Splenomegaly |
OMIM:188400 |
Wiedemann-Rautenstrauch Syndrome |
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Cryptorchidism, Hepatic steatosis, Hypogonadotropic hypogonadism |
ORPHA:3455 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets |
OMIM:220111 |
Homozygous Familial Hypercholesterolemia |
|
Hepatic steatosis |
ORPHA:391665 |
Spinocerebellar Ataxia 38 |
|
|
OMIM:615957 |
Spinocerebellar Ataxia Type 38 |
|
|
ORPHA:423296 |