| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
| Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
| Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
| Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Elevated gamma-gluta... |
OMIM:614480 |
| Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
| Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
| Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
| Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Elevated leukocyte alkaline phosphatase, Neutrophilia, Myelodysplasia |
OMIM:162830 |
| Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis |
OMIM:613783 |
| Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... |
OMIM:615395 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
| Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
| Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
| Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
| X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
| Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, S... |
OMIM:300635 |
| Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... |
OMIM:133180 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Abnormal thyroid morp... |
ORPHA:139507 |
| Immunodeficiency 42 |
|
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... |
OMIM:616622 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
| Glycoprotein Storage Disease |
|
Splenomegaly, Gout |
OMIM:232900 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis |
ORPHA:60 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
| Isolated Anencephaly |
|
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
| Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
| Congenital Macroglossia |
|
Neurofibroma, Hypothyroidism, Abnormal hepatic glycogen storage |
ORPHA:2430 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi... |
OMIM:301045 |
| Proteus-Like Syndrome |
|
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Heman... |
ORPHA:2969 |
| Mantle Cell Lymphoma |
|
Splenomegaly, B-cell lymphoma, Lymphadenopathy |
ORPHA:52416 |
| Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
| Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis |
OMIM:618400 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Adrenal calcification, Bone-marrow foam cells, Leukopenia, Hepatic fibrosi... |
OMIM:278000 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic s... |
OMIM:616829 |
| Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
| Immunodeficiency 104 |
|
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy... |
OMIM:608971 |
| Immunodeficiency 16 |
|
Splenomegaly, Kaposi's sarcoma, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Intrahepatic cho... |
OMIM:607765 |
| Complement Component 4B Deficiency |
|
Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia |
OMIM:614379 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Increased muscle lipid content, H... |
OMIM:610717 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Hepatic steatosis |
OMIM:261650 |
| Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... |
ORPHA:2137 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Eosinophilia, Myeloproliferative disorder, Hepatomegaly |
OMIM:607685 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Skin rash, Hepatomegaly |
OMIM:619175 |
| Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... |
ORPHA:848 |
| Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma |
ORPHA:66661 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Increased inflammatory response, Increased circulating lactate dehydrogenase concen... |
ORPHA:158061 |
| Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma |
OMIM:619437 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy |
ORPHA:86893 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, Hepatic steatosis, Pancrea... |
ORPHA:79084 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Skin... |
ORPHA:47 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, ... |
OMIM:269200 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Diabetes mellitus, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis |
OMIM:612526 |
| Tyrosinemia Type 1 |
|
Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Hepatomegaly |
ORPHA:882 |
| Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopa... |
ORPHA:829 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
| Diarrhea 13 |
|
Elevated hepatic transaminase, Hepatic steatosis |
OMIM:620357 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... |
ORPHA:158057 |
| Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli... |
OMIM:618549 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
| Patent Ductus Venosus |
|
Hepatic steatosis, Decreased liver function |
OMIM:601466 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenomegaly, Otitis... |
ORPHA:169160 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulat... |
OMIM:617872 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis |
ORPHA:436182 |
| Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Arthri... |
ORPHA:33110 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Autoimmune thrombocyt... |
OMIM:614470 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:620010 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Neoplasm |
ORPHA:172 |
| Idiopathic Copper-Associated Cirrhosis |
|
Hepatic steatosis, Copper accumulation in liver, Cirrhosis |
ORPHA:209919 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:617068 |
| Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
| Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... |
ORPHA:846 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated alkaline phosphatase of bone origin, Spleno... |
OMIM:616828 |
| Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... |
ORPHA:381 |
| Rotor Syndrome |
|
Abnormal circulating enzyme concentration or activity, Jaundice, Storage in hepatocytes, Intermit... |
ORPHA:3111 |
| Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alkalin... |
OMIM:214900 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto... |
OMIM:300853 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619048 |
| Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
| Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... |
OMIM:618697 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep... |
OMIM:264470 |
| Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Diabetes mel... |
ORPHA:101330 |
| Obesity And Hypopigmentation |
|
Hepatic steatosis, Hyperinsulinemia |
OMIM:620195 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
| Immunodeficiency 76 |
|
B-cell lymphoma, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, ... |
OMIM:619164 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Osteoarthritis, Cirrhosis, Hepatic steatosis, Anemia |
OMIM:606069 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:619868 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
| Splenoportal Vascular Anomalies |
|
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosi... |
OMIM:271500 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s... |
ORPHA:209902 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Hepatomegaly, Chronic oral candidiasis, Absence of lymph node germinal center, ... |
OMIM:308230 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... |
ORPHA:280356 |
| Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st... |
OMIM:615438 |
| Immunodeficiency 48 |
|
Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczematoid dermatitis |
OMIM:269840 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Hepatic steatosis, Membranoproliferative glomerulonephritis, Polycystic ovaries |
OMIM:608709 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Myocardit... |
ORPHA:139402 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:610293 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Thrombocytopenia, Hepatiti... |
OMIM:304790 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:616860 |
| Morbid Obesity And Spermatogenic Failure |
|
Hepatic steatosis, Type II diabetes mellitus |
OMIM:615703 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc... |
OMIM:224100 |
| Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphoma, Recurrent pneumonia, Bronchiectasis... |
OMIM:240500 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatocellular carcinoma, Uveitis, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell co... |
ORPHA:3261 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
| Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content |
OMIM:232700 |
| Melioidosis |
|
Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti... |
ORPHA:31202 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Ascites, Anemia |
ORPHA:100025 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Graft Versus Host Disease |
|
Elevated hepatic transaminase, Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammat... |
ORPHA:39812 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr... |
ORPHA:231401 |
| Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
| Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
| Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
| Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Leukopenia, Tubulointerstitial nephritis, Hashimoto thyroiditis, Autoimmune t... |
ORPHA:227990 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Fetal ascites, Hepatomegaly |
OMIM:619462 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Autoimmune hypoparathyroidism, Leukopenia, Tubulointerstitial nephritis, Hash... |
ORPHA:227982 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Microcytic anemia, Elevated circulating alanine aminotransferase concentration, Hep... |
OMIM:618805 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphoma, Burkitt... |
OMIM:308240 |
| Glycogen Storage Disease Ixb |
|
Increased muscle glycogen content, Splenomegaly, Increased hepatic glycogen content, Hepatomegaly |
OMIM:261750 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619386 |
| Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Lymphocytosis |
ORPHA:79087 |
| Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Elevat... |
OMIM:614921 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Hepatic steatosis |
ORPHA:210548 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... |
OMIM:619849 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Po... |
OMIM:602347 |
| Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
| Congenital Disorder Of Glycosylation, Type Iih |
|
Interface hepatitis, Elevated serum transaminases during infections, Elevated circulating asparta... |
OMIM:611182 |
| Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia, Myelodysplasia |
ORPHA:721 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hepatic steatosis, Microcytic anemia, Hepatosplenomegaly, Hypopitu... |
OMIM:619013 |
| Immunodeficiency 56 |
|
Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis due to cryptospori... |
OMIM:615207 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Elevated alkali... |
ORPHA:171 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Arthritis, Abnormality ... |
ORPHA:91138 |
| Indolent Systemic Mastocytosis |
|
Hepatomegaly, Maculopapular exanthema, Skin rash, Hematological neoplasm, Splenomegaly, Lymphaden... |
ORPHA:98848 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
| Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hypogonadism, Hepatic fibrosis, Cirrho... |
OMIM:613313 |
| Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma... |
OMIM:615122 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemopha... |
OMIM:603552 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
| Legionnaires Disease |
|
Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Lymphadenopathy, Bone... |
ORPHA:549 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... |
OMIM:300400 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia |
OMIM:619036 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... |
ORPHA:231226 |
| Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Hepatitis |
ORPHA:363523 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Lichen Planopilaris |
|
Hepatitis, Neoplasm of the oral cavity |
ORPHA:525 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatic steatosis |
ORPHA:26792 |
| Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis, Adrenocorticotropin deficien... |
ORPHA:199296 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
OMIM:251880 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Pancytopenia, Cholangitis, Portal hypertension, Hypersplenism, Neutropenia... |
ORPHA:228426 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Neutropenia, Hypothyroid... |
ORPHA:37042 |
| Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
| Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Splenomegaly, Bronchiectasis, Cirrhosis, Hepatocellular carcinoma |
OMIM:613490 |
| Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Recurrent pneumonia,... |
OMIM:616433 |
| Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Lymphoma, Bronchiectasis, Lymphaden... |
ORPHA:397596 |
| Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopathy |
ORPHA:545 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Macrovesicular hepatic steatosis, Incr... |
OMIM:600649 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Hodgkin lymphoma, Absent... |
OMIM:620282 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Skin rash, Fetal ascites, Myocarditis, Leukocytosis, Hepatitis, C... |
ORPHA:292 |
| Immunodeficiency 69 |
|
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Normocytic anemia, Pancytopenia, Hepatomegaly, Myelodysplasia, Anemia of ... |
ORPHA:75564 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure |
ORPHA:75234 |
| Gracile Syndrome |
|
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration |
ORPHA:53693 |
| Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema... |
ORPHA:781 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79095 |
| Proteus Syndrome |
|
Thymus hyperplasia, Macroorchidism, Testicular neoplasm, Retinal hamartoma, Neoplasm of the thymu... |
ORPHA:744 |
| Aspergillosis |
|
Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Hematological neoplasm, Keratitis, Bronchiecta... |
ORPHA:1163 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... |
OMIM:619463 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Nephrogenic diabetes insipidus... |
OMIM:613404 |
| Myasthenia Gravis |
|
Hemolytic anemia, Myositis, Hyperthyroidism, Pure red cell aplasia, Primary adrenal insufficiency... |
ORPHA:589 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
| Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis |
OMIM:615918 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... |
ORPHA:562639 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Diabetic ketoacidosis, Hepatic... |
OMIM:615238 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Female hypogonadism, Cholelithi... |
OMIM:240300 |
| Primary Biliary Cholangitis |
|
Portal hypertension, Abnormality of the thyroid gland, Jaundice, Biliary cirrhosis, Hepatitis, Ga... |
ORPHA:186 |
| Mccune-Albright Syndrome |
|
Hyperthyroidism, Precocious puberty, Hepatitis, Ovarian cyst, Increased circulating cortisol leve... |
ORPHA:562 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Type I d... |
OMIM:613385 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, El... |
OMIM:235555 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Insulin-resistant diabetes mellitus, Hepatic steatosis |
OMIM:613877 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi... |
OMIM:243150 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:618234 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Diabetes mellitus, Portal hypertension, Pancreatic cysts, Splenomegaly, Elevated ci... |
OMIM:610199 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Viral hepatitis, Diabetes mellitus, Liver abscess, Cholangitis, Psoriasiform d... |
ORPHA:183675 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... |
ORPHA:79085 |
| Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Colitis, Cirrhosis, Chronic hepatitis |
OMIM:614602 |
| Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Oropharyngeal squamous cell carcinoma, T lymphocytopenia, Infectious encephalitis, Autoimmune thr... |
ORPHA:391487 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Nephrogenic diabetes insipidus, Hepatic mela... |
OMIM:208085 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatocellular carcinoma, Portal fibrosis, Hepatic f... |
ORPHA:369 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Acute hepatitis, Decreased liver function, Hepatomegaly |
OMIM:238970 |
| Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
| Ddost-Cdg |
|
Elevated hepatic transaminase, Hepatic steatosis, Primary hypothyroidism |
ORPHA:300536 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Cryptorchidism, Elevated circulat... |
OMIM:615381 |
| Bardet-Biedl Syndrome 19 |
|
Hepatic steatosis, Hypogonadism |
OMIM:615996 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv... |
OMIM:212140 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:264580 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal circulating enzyme concentration or activity, Hepatic steatosis, Decreased liver function |
ORPHA:70472 |
| Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergo... |
OMIM:203800 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Abnormal lactate dehydrogenase level, ... |
ORPHA:42 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Elevated circulating... |
OMIM:601847 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneumonia, Atypical or p... |
ORPHA:83471 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutr... |
OMIM:607594 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... |
ORPHA:435651 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circul... |
OMIM:300972 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatic steatosis, Hyperinsulinemia, Cirrhosis, Hepatomegaly |
ORPHA:363400 |
| Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... |
OMIM:613070 |
| Avian Influenza |
|
Elevated hepatic transaminase, Pneumonia, Hepatitis, Leukopenia, Conjunctivitis, Myelitis, Increa... |
ORPHA:454836 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Colit... |
OMIM:209920 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin-resistant diabetes mell... |
ORPHA:79083 |
| Isolated Sedoheptulokinase Deficiency |
|
Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Cholestatic liver dis... |
ORPHA:440713 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Chronic hepatitis due to cryptos... |
ORPHA:572 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Increased hepatic echo... |
OMIM:261680 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Hepatic fibros... |
ORPHA:541423 |
| Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland... |
ORPHA:2552 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
| Interstitial Lung And Liver Disease |
|
Hepatic steatosis, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, E... |
OMIM:615486 |
| Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy... |
ORPHA:64743 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, Typ... |
OMIM:604367 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Diabetes mellitus, Splenomegaly, Polycystic ovaries, Hepatic steatosis, Pancreatitis |
ORPHA:2348 |
| Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Decreased response to growth hormone stimulation test, Pneumonia, Enteroviral hepatiti... |
OMIM:307200 |
| 3-Methylglutaconic Aciduria, Type V |
|
Elevated circulating aspartate aminotransferase concentration, Cryptorchidism, Microvesicular hep... |
OMIM:610198 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatic steatosis, He... |
OMIM:231530 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis |
OMIM:201450 |
| Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... |
OMIM:603554 |
| Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren... |
ORPHA:36234 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym... |
OMIM:613011 |
| Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Ascites, Hepatitis |
ORPHA:584 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:256810 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Hepatic steatosis |
OMIM:615980 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
| Spondyloenchondrodysplasia |
|
Enchondroma, Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Decreased response to growth h... |
ORPHA:1855 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, P... |
ORPHA:436159 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno... |
OMIM:602450 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice... |
OMIM:617093 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Acute hepatic failure, Hepatomegaly, Portal hypertension, Splenome... |
ORPHA:131 |
| Wilson Disease |
|
Hypoparathyroidism, Hemolytic anemia, Acute hepatic failure, Hepatomegaly, Elevated circulating a... |
OMIM:277900 |
| Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge... |
ORPHA:824 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Cardiomegaly, Hepatocellular necrosis, Periportal fibros... |
OMIM:201475 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T lymphocytopenia... |
OMIM:242700 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neutropenia,... |
OMIM:150550 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Astrocytoma, Insulin-resistant diabetes mellitus, Lymphoma, Hyp... |
ORPHA:79086 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hypoparathyroidism, Decreased circulating cortisol level, Macrocytic anemia, E... |
ORPHA:199299 |
| Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Myelodysplasia, Leukocytosis, He... |
ORPHA:3260 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Hypogonadism, Poikilocytosis, Elev... |
OMIM:615234 |
| Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Hepatic fibrosis, Hepatic steatosis |
ORPHA:79322 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Reduced carnitine O-palmitoyltransferase level, Hepa... |
ORPHA:228305 |
| Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hemolytic anemia, Hepatic steatosis, Hepatomegaly, Acute pancreati... |
OMIM:619487 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash, B-cell lymphoma... |
OMIM:619381 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... |
ORPHA:231222 |
| Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Atrophic gastritis, Hepatic steatosi... |
OMIM:615846 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hepatic failure |
ORPHA:664 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis |
OMIM:275630 |
| Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ... |
ORPHA:100026 |
| Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis... |
OMIM:612840 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... |
OMIM:612714 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Splenomegaly, Microvesicular hepatic steatosis, Macronodular cirr... |
OMIM:619418 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... |
OMIM:605814 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... |
ORPHA:435660 |
| Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
| Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, ... |
OMIM:300755 |
| Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Microcyt... |
ORPHA:2959 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:617241 |
| Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... |
ORPHA:53035 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis |
ORPHA:369840 |
| Adrenomyodystrophy |
|
Hepatic steatosis, Primary adrenal insufficiency |
ORPHA:977 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Splenomegaly, Lymphadenopathy, Juvenile ... |
ORPHA:85414 |
| Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Hepatic steatosis, Acanth... |
ORPHA:71 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Hepatic steatosis, Acne, Paradoxical increased cortisol secreti... |
ORPHA:189427 |
| Zygomycosis |
|
Fasciitis, Diabetes mellitus, Sinusitis, Pericarditis, Gastritis, Hematological neoplasm, Pustule... |
ORPHA:73263 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Cholestasis, Port... |
OMIM:614300 |
| Simple Cryoglobulinemia |
|
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, B-cell lymphoma, Chronic... |
ORPHA:91139 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Hyperinsulinemia, Polycystic ovar... |
ORPHA:528 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, Chronic lympha... |
ORPHA:90033 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hepatitis, Hypoplasia of the thymus, Type I... |
ORPHA:436252 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... |
OMIM:614700 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Mac... |
ORPHA:298 |
| Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... |
ORPHA:30391 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, A... |
OMIM:616100 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Increased hepatic glycogen content, Enlarged tonsils, Abnormal circulating insulin concentration |
ORPHA:293964 |
| Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Myelodysplasia, Leukocytosis, Ly... |
ORPHA:98849 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating alkaline phosphatase concentration, Hepatic steatosis |
ORPHA:52430 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Thrombocytopenia |
OMIM:611126 |
| Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Neutropenia, L... |
OMIM:301078 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Leukopenia, Tubulointerstitial nephritis, ... |
ORPHA:289390 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Subcutaneous panniculitis-like T-cell... |
OMIM:618398 |
| Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Diabetes mellitus, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent ... |
ORPHA:444490 |
| Kawasaki Disease |
|
Pericarditis, Skin rash, Myocarditis, Leukocytosis, Cervical lymphadenopathy, Jaundice, Hepatitis... |
ORPHA:2331 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Hypothyroidism, Bone marrow hypocellularity, Infection associated ... |
ORPHA:445038 |
| Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Gastroin... |
ORPHA:1572 |
| Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Increased circulating lactate dehydrogenase... |
ORPHA:99901 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Reduced level of N-acetylglucosaminyltransferase... |
OMIM:224120 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Hepatic steatosis, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia... |
ORPHA:93111 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... |
OMIM:102700 |
| Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Delayed ... |
ORPHA:247585 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Micronodular cirrhosis, Abnormal granulocyte morphol... |
ORPHA:98907 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Recurrent pneumonia, Hyperinsulinemia,... |
OMIM:613327 |
| Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Cirrhosis, Ascites |
OMIM:215600 |
| Chronic Mucocutaneous Candidiasis |
|
Cheilitis, Skin rash, Hepatitis |
ORPHA:1334 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Rift Valley Fever |
|
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Uveitis, Anemia, Infectious enceph... |
ORPHA:319251 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis |
OMIM:212138 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Fasting hyperinsulinemia, Hepatic necrosis,... |
ORPHA:71212 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Anemia, Leukopenia, Bone marrow hypocellularity,... |
OMIM:617303 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Hepatic steatosis, Decreased liver function |
OMIM:614922 |
| Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Elevated hemoglobin A1c, Elevated circulating luteinizing ... |
OMIM:617253 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
| D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Fetal ascit... |
OMIM:261515 |
| Bloom Syndrome |
|
Elevated hemoglobin A1c, Cryptorchidism, Lymphoma, Bronchiectasis, Squamous cell carcinoma, Type ... |
OMIM:210900 |
| Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Adrenal calcification, Bone-marrow... |
ORPHA:275761 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:608836 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hepatic periportal necrosis, Hepatic steatosis, Jaundice |
OMIM:231680 |
| Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Scle... |
ORPHA:728 |
| Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypothyroidism, Gout, Hepatic steatosis |
ORPHA:412 |
| Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Very long chain fatty acid accumu... |
ORPHA:98908 |
| 19P13.12 Microdeletion Syndrome |
|
Precocious puberty, Cryptorchidism, Hypothyroidism, Hepatic steatosis |
ORPHA:254346 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Decreased liver function, Hepatic failure |
ORPHA:415 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis |
OMIM:619183 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, H... |
ORPHA:2088 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep... |
ORPHA:699 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Abnormal circulating enzyme conce... |
ORPHA:348 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Diabetes mellitus, Decreased adiponectin level, Decreased serum leptin, Splenomegal... |
ORPHA:280365 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:233710 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatic steatosis, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Chronic n... |
ORPHA:79259 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hepatic steatosis, Pancreatitis |
OMIM:236200 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased ser... |
OMIM:608594 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... |
OMIM:619525 |
| Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis |
ORPHA:83597 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Increased circulating lactate dehydrogenase... |
ORPHA:3202 |
| Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... |
OMIM:208540 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Jaundice, Cholestasis, Ascites, ... |
OMIM:617156 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:233690 |
| Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Portal fibrosis, Hepatic fibrosis, Prolonged neona... |
OMIM:619377 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cholestasis, Hepatosplenomegaly, Elevated ... |
ORPHA:247598 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Decreas... |
OMIM:269700 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Pericarditis, Hypergonadotropic h... |
OMIM:212065 |
| Cimdag Syndrome |
|
Cholelithiasis, Microvesicular hepatic steatosis, Hypogonadism, Hepatomegaly |
OMIM:619273 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Elevate... |
OMIM:618329 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Recurrent pneumonia, Leukopenia, Neutropenia, Hepatic steatosis, Thrombocytopenia |
OMIM:616271 |
| Immunodeficiency 9 |
|
Stomatitis, Hypoplasia of the thymus, Recurrent aphthous stomatitis |
OMIM:612782 |
| Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... |
OMIM:603903 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic... |
OMIM:619991 |
| Syndromic Diarrhea |
|
Hepatomegaly, Gastritis, Increased mean platelet volume, Splenomegaly, Abnormality of the liver, ... |
ORPHA:84064 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Cholestasis, Left ventricular hypertrophy, Diffuse hepatic steatosis, Chronic... |
ORPHA:746 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Diffuse hepatic steatosis, Decreased liver function, Anemia |
ORPHA:436271 |
| Ataxia-Telangiectasia |
|
Diabetes mellitus, Female hypogonadism, Sinusitis, Lymphoma, Bronchiectasis, Hodgkin lymphoma, Ac... |
OMIM:208900 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Microvesicular hepat... |
OMIM:618278 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Hepatic calcification, Tubulointerstitial nephritis, Reduced carnitin... |
ORPHA:228308 |
| Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Bilateral cryptorchidism, Microvesicular hepatic steatosis, Hypoch... |
ORPHA:66634 |
| Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Osteomyelitis, Splenomegaly, Osteoarthritis, Hepatitis, Anemia, Cirrh... |
ORPHA:355 |
| Leptospirosis |
|
Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Lymphadenopathy, Optic neuri... |
ORPHA:509 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine... |
ORPHA:906 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hepatic fibrosis, Delaye... |
OMIM:616263 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Hypoplasia of the thymus |
OMIM:214110 |
| Monosomy 22 |
|
Aplasia of the thymus, Seborrheic dermatitis, Schwannoma, Hypochromic microcytic anemia, Hepatosp... |
ORPHA:96123 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Cryptorchidism, Erythroid hypoplas... |
OMIM:612541 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid ac... |
ORPHA:20 |
| Abetalipoproteinemia |
|
Elevated hepatic transaminase, Reticulocytosis, Hepatic steatosis, Hepatomegaly, Acanthocytosis, ... |
ORPHA:14 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis |
OMIM:210200 |
| Acute Liver Failure |
|
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular n... |
ORPHA:90062 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Tubulo... |
OMIM:124000 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycyst... |
OMIM:151660 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Decreased liver function, Increased intramyocellular lipid droplets, Increased hepa... |
OMIM:220110 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis |
OMIM:616672 |
| Postinfectious Vasculitis |
|
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Esophagitis |
OMIM:615356 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... |
OMIM:203700 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascularization, Macul... |
ORPHA:247691 |
| Occipital Horn Syndrome |
|
Jaundice, Hepatitis, Cholestasis, Esophagitis, Exostoses |
ORPHA:198 |
| Monosomy 13Q34 |
|
Hepatic steatosis |
ORPHA:96168 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Pancytopenia, Portal hypertension, Cholestasis, Bile duct prolifer... |
OMIM:613658 |
| Digeorge Syndrome |
|
Hepatic steatosis, Parathyroid agenesis, Acne, Decreased circulating parathyroid hormone level, S... |
OMIM:188400 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:17 |
| Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cirrhosis, Hepatic steatosis, Reduced hepa... |
OMIM:229600 |
| Atypical Werner Syndrome |
|
Renal neoplasm, Hepatic steatosis, Diabetes mellitus, Abnormal circulating leptin concentration, ... |
ORPHA:79474 |
| Arima Syndrome |
|
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic steatosis, Anemia |
OMIM:243910 |
| Aromatase Deficiency |
|
Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Crypto... |
ORPHA:91 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Nodular regenerative hyperplasia of liver, Splenomeg... |
ORPHA:404454 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus |
ORPHA:3004 |
| Lujo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Myocarditis, Leukocytosis, Ful... |
ORPHA:319213 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Elevated hepatic transaminase, High urinary gonadotropin level, Increased circulating gonadotropi... |
ORPHA:99413 |
| Turner Syndrome |
|
Elevated hepatic transaminase, High urinary gonadotropin level, Increased circulating gonadotropi... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Elevated hepatic transaminase, High urinary gonadotropin level, Increased circulating gonadotropi... |
ORPHA:99228 |
| Monosomy X |
|
Elevated hepatic transaminase, High urinary gonadotropin level, Increased circulating gonadotropi... |
ORPHA:99226 |
| Acitretin/Etretinate Embryopathy |
|
Hypoplasia of the thymus |
ORPHA:40366 |
| Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Eczema, Facial capillary hemangioma, Precocious puberty, Cryptorchidism, Splenomega... |
OMIM:270400 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Elevated hepatic transaminase, Osteomyelitis, Abnormal abdomen morphology, Jaundice, Neurofibroma... |
OMIM:619475 |
| Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Seborrheic dermatitis, Microvesicular hepatic steatosis, Elevated circulating alkal... |
OMIM:300868 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
| 1P36 Deletion Syndrome |
|
Hepatic steatosis, Cryptorchidism, Abnormality of the spleen, Annular pancreas, Abnormality of th... |
ORPHA:1606 |
| Ogden Syndrome |
|
Eczema, Maternal diabetes, Cardiomegaly, Cryptorchidism, Jaundice, Microvesicular hepatic steatos... |
OMIM:300855 |
| Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus, Cardiomegaly |
OMIM:617022 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Hepatic steatosis |
OMIM:619934 |
| Eec Syndrome |
|
Decreased response to growth hormone stimulation test, Keratitis, Lymphoma, Inflammatory abnormal... |
ORPHA:1896 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Adrenal hypoplasia, Recurrent pneumonia, Hypoplasia of the thymus, Ascites, Rig... |
OMIM:613177 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Leukocytosis, Hypoplasia of the ovary, Hepatic steatosis, Decreased testicular size |
OMIM:619321 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hemolytic anemia, Decreased response to growth hormone stimulation test, Portal hypertension, Fet... |
OMIM:619503 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated hemoglobin A1c, Macrovesicular hepatic stea... |
OMIM:619127 |
| 22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hyperthyroidism, Acne, Abnormality of the tonsils, Seborrheic dermatitis, Cry... |
ORPHA:567 |
| Treacher-Collins Syndrome |
|
Cryptorchidism, Multiple enchondromatosis, Abnormality of the adrenal glands, Hypoplasia of the t... |
ORPHA:861 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hyperthyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... |
ORPHA:3455 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Hypoplastic ni... |
OMIM:620186 |
| Fraser Syndrome 2 |
|
Hypoplasia of the thymus |
OMIM:617666 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Left ventricular hypertrophy, Microvesicular hepatic steatosis, Increased hepatocellular lipid dr... |
OMIM:220111 |
| Wiedemann-Rautenstrauch Syndrome |
|
Cryptorchidism, Hypoplasia of the thymus, Pneumonia, Increased serum testosterone level |
OMIM:264090 |
| Truncus Arteriosus |
|
Adrenocortical abnormality, Hypoplasia of the thymus, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:3384 |
| Homozygous Familial Hypercholesterolemia |
|
Hepatic steatosis |
ORPHA:391665 |
