Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Gait disturbance, Ataxia, Splenomegaly |
ORPHA:2274 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Cataract |
ORPHA:79281 |
Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Ataxia, Cataract |
ORPHA:1397 |
Galactosemia Iv |
|
Prolonged neonatal jaundice, Cataract |
OMIM:618881 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:614480 |
Encephalopathy Due To Prosaposin Deficiency |
|
Dystonia, Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Galactosemia Ii |
|
Prolonged neonatal jaundice, Cataract |
OMIM:230200 |
Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Cataract, Splenomegaly |
ORPHA:79238 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Gait ataxia, Limb ataxia, Cataract |
OMIM:617133 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Hepatomegaly, Cataract |
OMIM:607906 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Hepatomegaly, Cataract |
OMIM:614882 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 18 |
|
Cataract |
OMIM:610019 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Hepatosplenomegaly, Anemia, Cataract |
OMIM:273680 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly |
OMIM:206400 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Immunodeficiency 48 |
|
Hepatomegaly, Splenomegaly |
OMIM:269840 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Ataxia, Hepatic failure, Gait ataxia |
OMIM:616719 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Trimethylaminuria |
|
Anemia, Neutropenia, Depression, Splenomegaly |
OMIM:602079 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cataract, Jaundice |
OMIM:614876 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... |
OMIM:237800 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly |
OMIM:615947 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... |
OMIM:133180 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly |
OMIM:618495 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:619658 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Splenomegaly, Anxiety, Depression, Jaundice |
OMIM:121300 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... |
ORPHA:79301 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... |
OMIM:615285 |
Galactose Mutarotase Deficiency |
|
Decreased liver function, Hepatomegaly, Cataract, Cholestasis |
ORPHA:570422 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis |
OMIM:271500 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... |
ORPHA:444463 |
Phenylketonuria |
|
Blue irides, Aggressive behavior, Self-mutilation, Hyperactivity, Irritability, Cataract, Anxiety... |
OMIM:261600 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Sandhoff Disease |
|
Hepatomegaly, Ataxia, Splenomegaly |
ORPHA:796 |
Wilson Disease |
|
Hepatomegaly, Aggressive behavior, Hepatitis, Anemia, Acute hepatitis, Splenomegaly, Cirrhosis, H... |
ORPHA:905 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Splenomegaly |
OMIM:618541 |
Morm Syndrome |
|
Hyperactivity, Aggressive behavior, Cataract |
ORPHA:75858 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Hepatic fa... |
OMIM:616278 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hepatomegaly, Splenomegaly, Ataxia, Inability to walk, Cataract, Hemolytic anemia, Jaundice |
OMIM:608885 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly |
OMIM:615593 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... |
OMIM:617394 |
Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis |
ORPHA:66661 |
Pandas |
|
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... |
ORPHA:66624 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Conjunctivitis, Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopeni... |
OMIM:603552 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... |
OMIM:613673 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... |
OMIM:214900 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Splenomegaly, Ataxia, Pancytopenia, Thrombocytopenia, Depression |
OMIM:231000 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis, Elevated hepatic transaminase |
OMIM:613313 |
Galactosemia Iii |
|
Jaundice, Hepatomegaly, Splenomegaly |
OMIM:230350 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Portal fibrosis, Elevated hepatic transaminase, Bile duct proliferation, Splenomega... |
OMIM:602347 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Ataxia, Splenomegaly |
ORPHA:98293 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Splenomegaly, Ataxia, Irritability, Emotional lability, Lethargy |
OMIM:201100 |
Ceroid storage disease |
|
Abnormality of the spleen, Hepatic failure |
OMIM:214200 |
Alpha-Thalassemia |
|
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... |
ORPHA:846 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly |
ORPHA:417 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... |
OMIM:616860 |
Nephronophthisis 19 |
|
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis |
OMIM:616217 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume |
OMIM:615234 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma |
|
Cirrhosis, Cataract, Hepatic fibrosis, Cholestasis |
OMIM:609313 |
Fish-Eye Disease |
|
Lymphadenopathy, Hepatomegaly, Corneal opacity, Splenomegaly |
ORPHA:79292 |
Mevalonic Aciduria |
|
Ataxia, Cataract, Splenomegaly |
ORPHA:29 |
Aicardi-Goutieres Syndrome 7 |
|
Dystonia, Hepatomegaly, Splenomegaly, Irritability, Thrombocytopenia |
OMIM:615846 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatomegaly, Hepatic steatosis, Waddling gait, Cataract, Truncal ataxia, Elevated hepatic transa... |
ORPHA:369840 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Ataxia-Pancytopenia Syndrome |
|
Gait disturbance, Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macro... |
ORPHA:2585 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Ataxia, Irritability, Hepatic failure, Elevated hepatic tr... |
OMIM:613489 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly |
OMIM:607616 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Cholestatic liver disease, ... |
OMIM:616828 |
Gaucher Disease Type 2 |
|
Dystonia, Hepatomegaly, Splenomegaly |
ORPHA:77260 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Developmental cataract, Cataract |
OMIM:613076 |
Progressive Familial Intrahepatic Cholestasis |
|
Jaundice, Hepatomegaly, Cholestasis, Splenomegaly |
ORPHA:172 |
Combined Saposin Deficiency |
|
Hepatomegaly, Splenomegaly |
OMIM:611721 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Dystonia, Elevated hepatic transaminase, Splenomegaly, Hepatosplenomegaly, Pancytop... |
OMIM:610333 |
Usher Syndrome Type 3 |
|
Ataxia, Iris hypopigmentation, Cataract, Astigmatism, Anxiety, Depression |
ORPHA:231183 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase conc... |
OMIM:618805 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly |
ORPHA:100024 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... |
OMIM:614470 |
Immunodeficiency 84 |
|
B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Cataract 9, Multiple Types |
|
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea |
OMIM:604219 |
Hemochromatosis, Type 2A |
|
Cirrhosis, Hepatomegaly, Lethargy, Splenomegaly |
OMIM:602390 |
Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia |
OMIM:618963 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Hepatitis, Splenomegaly, Cirrhosis, ... |
OMIM:613812 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of the lymphatic system, Spl... |
ORPHA:1414 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure, Jaundice |
ORPHA:75234 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia |
OMIM:610539 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Pigment gallstones, Cholelithiasis, Splenomegaly, Ataxia, Impaired neutrophil bactericidal activi... |
OMIM:613470 |
Classic Galactosemia |
|
Lethargy, Hepatomegaly, Gait disturbance, Dystonia, Gait imbalance, Ascites, Ataxia, Cataract, He... |
ORPHA:79239 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly |
ORPHA:100025 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Cholestasis, Splenomegaly |
OMIM:105200 |
Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
Beta-Thalassemia |
|
Hepatomegaly, Hepatitis, Abnormal hemoglobin, Anemia, Cholelithiasis, Splenomegaly, Microcytic an... |
ORPHA:848 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Ascites, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, Splen... |
OMIM:619463 |
Senior-Loken Syndrome |
|
Congenital hepatic fibrosis, Ataxia, Cataract |
ORPHA:3156 |
Leber Congenital Amaurosis 1 |
|
Hepatomegaly, Keratoconus, Cataract |
OMIM:204000 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Dystonia, Dysmetria, Spastic gait, Ataxia, Emotional lability, Tip-toe gait, Cataract, Difficulty... |
OMIM:609195 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Corneal opacity, Abnormality of the tonsils, Splenomegaly |
ORPHA:93476 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Anemia, Cirrhosis, Hepatic steatosis, Cataract |
OMIM:606069 |
Usher Syndrome Type 1 |
|
Ataxia, Cataract, Iris hypopigmentation, Anxiety, Depression |
ORPHA:231169 |
Babesiosis |
|
Hepatomegaly, Leukopenia, Splenomegaly, Hepatic failure, Thrombocytopenia, Hemolytic anemia, Depr... |
ORPHA:108 |
Erythrocytosis, Familial, 8 |
|
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... |
OMIM:222800 |
Sialidosis Type 2 |
|
Hepatomegaly, Ascites, Splenomegaly, Ataxia, Corneal opacity |
ORPHA:87876 |
Follicular Lymphoma |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly |
ORPHA:545 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Cataract |
OMIM:618660 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... |
OMIM:615559 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Increased hepatic echogenicity, Hepatic fibrosis, Leukopenia, Bone-marrow foam cell... |
OMIM:278000 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Hepatomegaly, Cataract, Jaundice |
OMIM:614872 |
Immunodeficiency 76 |
|
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia |
OMIM:619164 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... |
OMIM:616689 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly |
OMIM:615085 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Prolonged neo... |
OMIM:224120 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Anemia, Aplasia/Hypoplasia of the iris, Splenomegaly, Corneal opacity, Cataract, Th... |
ORPHA:290 |
Galactosemia |
|
Lethargy, Hepatomegaly, Gait disturbance, Dystonia, Gait imbalance, Ascites, Cirrhosis, Ataxia, C... |
ORPHA:352 |
Immunodeficiency 52 |
|
Lymphadenopathy, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, S... |
OMIM:617514 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Dysplastic Cortical Hyperostosis |
|
Hepatomegaly, Splenomegaly |
ORPHA:2204 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Dystonia, Neutropenia, Anemia, Pancreatitis, Splenomegaly, Thrombocytopenia, Lethargy |
ORPHA:79312 |
Hepatoportal Sclerosis |
|
Hepatocellular carcinoma, Ascites, Leukopenia, Anemia, Nodular regenerative hyperplasia of liver,... |
ORPHA:64743 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Splenomegaly, Iris hypopigmentation, Pancytopenia, He... |
ORPHA:79477 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly |
OMIM:612526 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... |
OMIM:619375 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... |
OMIM:235700 |
Pfapa Syndrome |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:42642 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega... |
OMIM:194380 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Hepatomegaly, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... |
ORPHA:75564 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Splenomegaly |
OMIM:608540 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Anemia, Splenomegaly |
ORPHA:75563 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... |
OMIM:615513 |
Immunodeficiency, Common Variable, 1 |
|
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... |
OMIM:607594 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Interm... |
OMIM:601847 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... |
OMIM:613027 |
Niemann-Pick Disease, Type A |
|
Athetosis, Hepatomegaly, Ascites, Lymphadenopathy, Bone-marrow foam cells, Splenomegaly, Elevated... |
OMIM:257200 |
Neuraminidase Deficiency |
|
Hepatomegaly, Ascites, Dysmetria, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomegaly, S... |
OMIM:256550 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... |
ORPHA:766 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... |
OMIM:612840 |
Alpha-Mannosidosis, Adult Form |
|
Ataxia, Hepatosplenomegaly, Corneal opacity, Cataract, Pancytopenia, Anxiety, Depression |
ORPHA:309288 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis |
OMIM:613101 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Cataract |
OMIM:613730 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:185000 |
3-Methylglutaconic Aciduria Type 4 |
|
Decreased liver function, Thrombocytopenia, Iris hypopigmentation, Cataract |
ORPHA:67048 |
Griscelli Syndrome |
|
Hepatomegaly, Ascites, Leukopenia, Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, Splen... |
ORPHA:381 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice |
ORPHA:59303 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Aggressive behavior, Cardiomegaly, Splenomegaly, Hyperactivity |
OMIM:252920 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Acholic stools, Elevated hepatic transaminase, Splenomegaly, ... |
OMIM:607765 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Follicular hyperplasia, Lymphadenopathy, Splenomegaly, Conjunctivitis |
OMIM:240500 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Increased proportion ... |
ORPHA:98848 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hepatitis, Splenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis |
OMIM:300635 |
Laurence-Moon Syndrome |
|
Congenital hepatic fibrosis, Ataxia, Cataract, Iris coloboma |
ORPHA:2377 |
Spherocytosis, Type 5 |
|
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612690 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... |
OMIM:618534 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Hepatic failure, Intrahepatic cholesta... |
OMIM:235555 |
Free Sialic Acid Storage Disease |
|
Athetosis, Hepatomegaly, Gait disturbance, Ascites, Splenomegaly, Ataxia, Iris hypopigmentation |
ORPHA:834 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Ataxia |
ORPHA:391 |
Schnitzler Syndrome |
|
Leukocytosis, Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly |
ORPHA:37748 |
Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia |
OMIM:611490 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... |
OMIM:601859 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:182900 |
Farber Lipogranulomatosis |
|
Hepatomegaly, Lipogranulomatosis, Irritability, Splenomegaly |
OMIM:228000 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Hepatomegaly, Cataract |
OMIM:615704 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Lymphocytosis, Hep... |
OMIM:308240 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Giant cell hepatitis, Cholelithiasis, Cholestatic liver disease, Ataxia, Cataract, Elevated hepat... |
ORPHA:79095 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Harderoporphyria |
|
Hepatomegaly, Splenomegaly, Reticulocytosis, Prolonged neonatal jaundice, Hemolytic anemia |
OMIM:618892 |
Exfoliation Syndrome |
|
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... |
OMIM:177650 |
Thrombocythemia 1 |
|
Thrombocytosis, Splenomegaly |
OMIM:187950 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Ascites, Peritonitis, Splenomegaly, Cirrhosis, Acute hepatic failure, Cholecystitis... |
ORPHA:131 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Aplastic ... |
OMIM:615122 |
Caroli Disease |
|
Cholangitis, Leukocytosis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Cholelith... |
ORPHA:53035 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hepatocellular necrosis, Ascites, Depletion of mitochondrial DNA in liver, Micronod... |
OMIM:251880 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Hepatic steatosis, Acute hepatic failure, Cholestasis, Elevated hepat... |
OMIM:618641 |
Pseudo-Torch Syndrome 1 |
|
Hepatomegaly, Opacification of the corneal stroma, Splenomegaly, Decreased liver function, Catara... |
OMIM:251290 |
Autoimmune Hepatitis |
|
Hepatocellular carcinoma, Ascites, Fulminant hepatitis, Acute hepatitis, Splenomegaly, Diffuse he... |
ORPHA:2137 |
Classic Mycosis Fungoides |
|
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly |
ORPHA:2584 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Immunodeficiency 27A |
|
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Lymphadenopathy, Anemia, Splenomega... |
OMIM:209950 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Decrease... |
OMIM:300853 |
Immunodeficiency 32B |
|
Splenomegaly |
OMIM:226990 |
Pellagra-Like Syndrome |
|
Ataxia, Cataract |
OMIM:260650 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... |
OMIM:211600 |
Ornithine Transcarbamylase Deficiency |
|
Hepatic failure, Splenomegaly |
ORPHA:664 |
Cold Agglutinin Disease |
|
Lymphadenopathy, Hepatomegaly, Hemolytic anemia, Splenomegaly |
ORPHA:56425 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hepatomegaly, Anemia, Splenomegaly |
OMIM:618107 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecystitis, Reticulocytosis, Jaundice |
OMIM:266200 |
Spherocytosis, Type 4 |
|
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:612653 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
Leishmaniasis |
|
Hepatomegaly, Leukopenia, Elevated hepatic transaminase, Lymphadenopathy, Anemia, Splenomegaly, A... |
ORPHA:507 |
Joubert Syndrome 9 |
|
Astigmatism, Cataract, Hepatic fibrosis |
OMIM:612285 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Dysmetria, Loss of ability to walk, Ataxia, Hepatosplenomegaly, Corneal opacity, Ca... |
ORPHA:93399 |
Omenn Syndrome |
|
Hepatomegaly, B lymphocytopenia, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly,... |
OMIM:603554 |
Wolman Disease |
|
Hepatomegaly, Ascites, Bone-marrow foam cells, Anemia, Splenomegaly, Hepatic failure |
ORPHA:75233 |
Elliptocytosis 1 |
|
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly |
OMIM:611804 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Lymphopenia, Splenomegaly |
OMIM:605309 |
Spherocytosis, Type 2 |
|
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice |
OMIM:616649 |
Niemann-Pick Disease, Type C1 |
|
Fetal ascites, Hepatomegaly, Dystonia, Bone-marrow foam cells, Fatal liver failure in infancy, Sp... |
OMIM:257220 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Iron deficiency anemia, Chronic hepatitis, Hepatitis, Cirrhosis, Thymoma, Cataract, Exo... |
OMIM:269200 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Hepatomegaly, Elevated hepatic iron concentration, Hepatocellular carcinoma, Erythr... |
ORPHA:231222 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris |
ORPHA:1067 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia, Splenomegaly, Jaundice, Exocrine pancreatic insufficiency, Anemia of inadeq... |
OMIM:612714 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... |
OMIM:611881 |
Mucopolysaccharidosis, Type Iiia |
|
Hyperactivity, Hepatomegaly, Splenomegaly |
OMIM:252900 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Elevated hepatic transaminas... |
ORPHA:158057 |
Alpha-Mannosidosis |
|
Hepatomegaly, Corneal opacity, Cataract, Splenomegaly |
ORPHA:61 |
Galactosemia I |
|
Hepatomegaly, Cirrhosis, Decreased liver function, Cataract, Hemolytic anemia |
OMIM:230400 |
Primary Myelofibrosis |
|
Leukocytosis, Hepatomegaly, Thrombocytosis, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... |
ORPHA:824 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
Typhoid |
|
Lethargy, Hepatomegaly, Ataxia, Splenomegaly |
ORPHA:99745 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Ataxia, Cataract |
ORPHA:3233 |
Immunodeficiency 54 |
|
Lymphadenopathy, Reduced natural killer cell count, Hepatomegaly, Splenomegaly |
OMIM:609981 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly |
OMIM:230900 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... |
ORPHA:3226 |
Tangier Disease |
|
Left ventricular hypertrophy, Hepatomegaly, Opacification of the corneal stroma, Splenomegaly |
OMIM:205400 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly |
OMIM:617441 |
Triosephosphate Isomerase Deficiency |
|
Dystonia, Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Chronic hemolytic... |
OMIM:615512 |
Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:185020 |
Galactokinase Deficiency |
|
Nuclear cataract, Hepatomegaly, Hepatosplenomegaly, Cataract |
ORPHA:79237 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Decreased liver func... |
ORPHA:158061 |
Transaldolase Deficiency |
|
Hepatomegaly, Hepatic fibrosis, Micronodular cirrhosis, Anemia, Splenomegaly, Cirrhosis, Decrease... |
OMIM:606003 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Biliary hyperplasia, Cirrhosis, Hep... |
ORPHA:567983 |
Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Ascites, Hepatocellular carcinoma, Cardiomegaly, Splenomegaly, Cirrhosis, Elevated ... |
OMIM:235200 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... |
OMIM:603909 |
Autosomal Dominant Keratitis |
|
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... |
ORPHA:2334 |
Norrie Disease |
|
Shallow anterior chamber, Hypoplasia of the iris, Aggressive behavior, Cataract, Opacification of... |
OMIM:310600 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly |
OMIM:314050 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Splenomegaly, Intermitte... |
OMIM:150550 |
Chediak-Higashi Syndrome |
|
Hepatomegaly, Gait disturbance, Neutropenia, Leukopenia, Ocular albinism, Lymphadenopathy, Abnorm... |
OMIM:214500 |
Amoebic Keratitis |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... |
ORPHA:67043 |
Cryoglobulinemic Vasculitis |
|
Keratoconjunctivitis sicca, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Abnormality ... |
ORPHA:91138 |
Mevalonic Aciduria |
|
Fluctuating splenomegaly, Leukocytosis, Nuclear cataract, Normocytic hypoplastic anemia, Lymphade... |
OMIM:610377 |
Coach Syndrome 1 |
|
Hepatomegaly, Dystonia, Hepatic fibrosis, Splenomegaly, Cirrhosis, Ataxia, Intrahepatic bile duct... |
OMIM:216360 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Intrahepatic biliary dysgenesis, Brushfield spots, Splenomegaly, Hepatosplenomegaly... |
OMIM:614866 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hepatomegaly, Cholangiocarcinoma, Hepatocellular carcinoma, Cardiomegaly, Apathy, Splenomegaly, C... |
ORPHA:465508 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Dec... |
OMIM:613011 |
Neonatal Lupus Erythematosus |
|
Hepatomegaly, Neutropenia, Elevated hepatic transaminase, Anemia, Splenomegaly, Abnormality of th... |
ORPHA:398124 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Jaundice, Reticulocytosis, Sphero... |
OMIM:109270 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:85414 |
Pediatric-Onset Graves Disease |
|
Mood swings, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Ke... |
ORPHA:525731 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Neutropenia, Thrombocytopenia, Sclerosing cholangitis, Hepatitis, Splenomegaly, Cir... |
OMIM:308230 |
Hereditary Spherocytosis |
|
Hepatomegaly, Anemia, Cholelithiasis, Splenomegaly, Ataxia, Extramedullary hematopoiesis, Increas... |
ORPHA:822 |
Cataract 15, Multiple Types |
|
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract |
OMIM:615274 |
Fetal Gaucher Disease |
|
Abnormality of the spleen, Hepatomegaly, Splenomegaly, Pancytopenia, Thrombocytopenia |
ORPHA:85212 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... |
ORPHA:231154 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Microvesicular hepatic steatosis, Cholangitis, Decreased liver function, Ataxia, Emotional labili... |
OMIM:124000 |
Myopathy With Extrapyramidal Signs |
|
Leukocytosis, Hepatomegaly, Dystonia, Splenomegaly, Hyperactivity, Ataxia, Elevated hepatic trans... |
OMIM:615673 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Aniridia, Microcornea, Cataract |
OMIM:106230 |
Sialidosis Type 1 |
|
Gait disturbance, Splenomegaly, Ataxia, Corneal opacity, Cataract |
ORPHA:812 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Keratoconjunctivitis sicca, Hepatomegaly, Punctate keratitis, Splenomegaly, Hypereosinophilia, Co... |
OMIM:617388 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Gait disturbance, Dystonia, Polycythemia, Micronodular cirrhosis, Bradykinesia, Spl... |
ORPHA:309854 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Anemia, Cataract, Splenomegaly |
ORPHA:2930 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis |
OMIM:269400 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Ascites, Splenomegaly |
ORPHA:2414 |
Congenital Sialidosis Type 2 |
|
Hepatomegaly, Developmental cataract, Ascites, Dysmetria, Ataxia, Hepatosplenomegaly, Corneal opa... |
ORPHA:93400 |
Adult-Onset Still Disease |
|
Leukocytosis, Hepatomegaly, Hepatitis, Bone marrow hypocellularity, Splenomegaly, Neutrophilia, G... |
ORPHA:829 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Cholestasis, Hepatic failure |
OMIM:615630 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Corneal opacity, Splenomegaly |
OMIM:607015 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Leukopenia, Elevated hepatic transaminase, Lymphadenopathy, Anemia, Splenomegaly, A... |
OMIM:603553 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Leukocytosis, Splenomegaly |
OMIM:611762 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Buphthalmos, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cys... |
OMIM:610199 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
Isolated Biliary Atresia |
|
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... |
ORPHA:30391 |
Ectopia Lentis Et Pupillae |
|
Persistent pupillary membrane, Cataract, Ectopia lentis |
OMIM:225200 |
Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Hypochromic microcytic anemia, Hepatocellular carcinoma, Splenomegaly, Persiste... |
ORPHA:231226 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Transketolase Deficiency |
|
Hepatomegaly, Self-injurious behavior, Cataract, Attention deficit hyperactivity disorder, Conjun... |
ORPHA:488618 |
Niemann-Pick Disease, Type C2 |
|
Fetal ascites, Hepatomegaly, Dystonia, Bone-marrow foam cells, Splenomegaly, Ataxia, Prolonged ne... |
OMIM:607625 |
Caspase 8 Deficiency |
|
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly |
OMIM:607271 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune t... |
ORPHA:100026 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly |
OMIM:619183 |
Scheie Syndrome |
|
Hepatomegaly, Corneal opacity, Splenomegaly |
ORPHA:93474 |
Peroxisome Biogenesis Disorder 10B |
|
Prolonged neonatal jaundice, Cataract |
OMIM:617370 |
Hereditary Elliptocytosis |
|
Congenital hemolytic anemia, Stomatocytosis, Cholelithiasis, Splenomegaly, Jaundice, Poikilocytos... |
ORPHA:288 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Hypoplasia of the iris, Lymphadenopathy, Splenomegaly, Thrombocytopenia, Hemolytic ... |
ORPHA:169090 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Pancreatic cysts, Hepatic cysts, Splenomegaly, Portal hypertension, Periportal fibr... |
OMIM:263200 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Ataxia, Irritability, Thrombocyt... |
OMIM:267700 |
Beta-Thalassemia Major |
|
Hepatomegaly, Anisopoikilocytosis, Hepatic fibrosis, Hypochromic microcytic anemia, Hepatocellula... |
ORPHA:231214 |
Sitosterolemia 1 |
|
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Abnormality of the liver, Giant platelet... |
OMIM:210250 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Autoimmune... |
OMIM:616100 |
Sickle Cell Anemia |
|
Leukocytosis, Hepatomegaly, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red cell sickli... |
OMIM:603903 |
Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Gait disturbance, Intrahepatic biliary atresia, Congenital hepatic fibrosis, Neopla... |
ORPHA:1454 |
Usher Syndrome Type 2 |
|
Ataxia, Cataract, Iris hypopigmentation, Anxiety, Depression |
ORPHA:231178 |
Poikiloderma With Neutropenia |
|
Conjunctivitis, Neutropenia, Splenomegaly |
OMIM:604173 |
Hermansky-Pudlak Syndrome 10 |
|
Dystonia, Hepatomegaly, Neutropenia, Ocular albinism, Splenomegaly |
OMIM:617050 |
Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... |
OMIM:610256 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Sézary Syndrome |
|
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly |
ORPHA:3162 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Hepatocellular carcinoma, Hepatocellular adenoma... |
ORPHA:370 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... |
OMIM:300908 |
Multiple Sulfatase Deficiency |
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Hepatomegaly, Corneal opacity, Cataract, Splenomegaly |
ORPHA:585 |
Mucopolysaccharidosis, Type Iiic |
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Hyperactivity, Hepatomegaly, Splenomegaly |
OMIM:252930 |
Aicardi-Goutieres Syndrome 1 |
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Hepatomegaly, Dystonia, Elevated hepatic transaminase, Self-mutilation, Splenomegaly, Inability t... |
OMIM:225750 |
Immunodeficiency 47 |
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Hepatomegaly, Normocytic anemia, Hepatic fibrosis, Leukopenia, Thrombocytopenia, Elevated hepatic... |
OMIM:300972 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Lymphadenopathy, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Impaired oxidative burst, Acute... |
OMIM:618935 |
Omenn Syndrome |
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Leukocytosis, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly... |
ORPHA:39041 |
Agel Amyloidosis |
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Keratoconjunctivitis sicca, Abnormal spleen morphology, Ataxia, Corneal ulceration, Cataract, Dep... |
ORPHA:85448 |
Sialuria |
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Hepatomegaly, Attention deficit hyperactivity disorder, Splenomegaly |
OMIM:269921 |
Primary Sclerosing Cholangitis |
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Hepatomegaly, Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatic fibrosis, Hepatocellular c... |
ORPHA:171 |
Niemann-Pick Disease Type C |
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Bone-marrow foam cells, Progressive gait ataxia, Apathy, Splenomegaly, Hepatosplenomegaly, Jaundi... |
ORPHA:646 |
Gaucher Disease Type 1 |
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Hepatomegaly, Ascites, Leukopenia, Biliary tract obstruction, Anemia, Splenomegaly, Cirrhosis, Hy... |
ORPHA:77259 |
Gaucher Disease, Type I |
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Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocytopenia |
OMIM:230800 |
Gaucher Disease, Type Iiic |
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Hepatomegaly, Cardiomegaly, Splenomegaly, Pancytopenia, Opacification of the corneal stroma |
OMIM:231005 |
Familial Hemophagocytic Lymphohistiocytosis |
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Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Cholestatic liver disease, Decr... |
ORPHA:540 |
Mucopolysaccharidosis, Type Iiid |
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Hyperactivity, Hepatomegaly, Splenomegaly |
OMIM:252940 |
Multiple Sulfatase Deficiency |
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Hepatomegaly, Corneal opacity, Ataxia, Splenomegaly |
OMIM:272200 |
Apolipoprotein C-Ii Deficiency |
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Hepatomegaly, Pancreatitis, Splenomegaly |
OMIM:207750 |
Congenital Tufting Enteropathy |
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Corneal erosion, Punctate keratitis, Cholestatic liver disease, Irritability, Cataract |
ORPHA:92050 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Hepatomegaly, Lymphadenopathy, Anemia, Splenomegaly, Lymphopenia, Elevated hepatic transaminase, ... |
OMIM:617591 |
Osteopetrosis, Autosomal Recessive 5 |
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Hepatomegaly, Ascites, Anemia, Decreased osteoclast count, Splenomegaly, Extramedullary hematopoi... |
OMIM:259720 |
Myelofibrosis |
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Myeloproliferative disorder, Splenomegaly |
OMIM:254450 |
Felty Syndrome |
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Hepatomegaly, Neutropenia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellu... |
ORPHA:47612 |
Autoimmune Hemolytic Anemia |
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Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:98375 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Hepatocellular adenoma, Anemia, Splenomegaly, Ci... |
ORPHA:264580 |
Aniridia-Intellectual Disability Syndrome |
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Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Gaucher Disease, Perinatal Lethal |
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Hepatomegaly, Ascites, Cardiomegaly, Anemia, Apathy, Splenomegaly, Hepatosplenomegaly, Hepatic fa... |
OMIM:608013 |
Drug-Induced Autoimmune Hemolytic Anemia |
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Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90037 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
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Stomatocytosis, Ataxia, Hepatosplenomegaly, Zonular cataract, Cataract, Spontaneous hemolytic cri... |
ORPHA:168577 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
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Hepatomegaly, Cholelithiasis, Neoplasm of the liver, Splenomegaly, Cirrhosis, Acute promyelocytic... |
ORPHA:77293 |
Prolidase Deficiency |
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Hepatomegaly, Anemia, Splenomegaly, Elevated circulating aspartate aminotransferase concentration... |
OMIM:170100 |
Sarcoidosis, Susceptibility To, 2 |
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Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly |
OMIM:612387 |
Isolated Aniridia |
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Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
Immunodeficiency 36 |
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Chronic lymphatic leukemia, Lymphopenia, Splenomegaly |
OMIM:616005 |
Autoimmune Hemolytic Anemia, Warm Type |
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Jaundice, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90033 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
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Athetosis, Hepatomegaly, Dystonia, Hepatic steatosis, Inability to walk, Waddling gait, Ataxia, C... |
OMIM:615356 |
Scrub Typhus |
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Lymphadenopathy, Lethargy, Splenomegaly |
ORPHA:83317 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
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Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly |
OMIM:618398 |
Acute Panmyelosis With Myelofibrosis |
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Acute myelomonocytic leukemia, Bone marrow hypocellularity, Splenomegaly, Acute myeloid leukemia,... |
ORPHA:86843 |
Biotinidase Deficiency |
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Lethargy, Hepatomegaly, Splenomegaly, Ataxia, Conjunctivitis |
OMIM:253260 |
Proteus-Like Syndrome |
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Limbal dermoid, Thymus hyperplasia, Splenomegaly, Heterochromia iridis, Abnormal pupil morphology... |
ORPHA:2969 |
American Trypanosomiasis |
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Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:3386 |
Choreoacanthocytosis |
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Self-injurious behavior, Oromandibular dystonia, Apathy, Splenomegaly, Irritability, Anxiety, Abn... |
ORPHA:2388 |
Legionnaires Disease |
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Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, Pancreatitis, Splenomegaly, Ataxia, Lymp... |
ORPHA:549 |
Chronic Granulomatous Disease |
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Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Liver abscess |
ORPHA:379 |
Immunodeficiency 60 And Autoimmunity |
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Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly |
OMIM:618394 |
Aniridia 2 |
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Aniridia, Cataract |
OMIM:617141 |
Nodular Non-Suppurative Panniculitis |
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Hepatomegaly, Splenomegaly |
ORPHA:33577 |
Whipple Disease |
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Hepatomegaly, Mediastinal lymphadenopathy, Anemia, Splenomegaly, Ataxia, Depression |
ORPHA:3452 |
Hemophagocytic Syndrome Associated With An Infection |
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Hepatomegaly, Neutropenia, Elevated hepatic transaminase, Anemia, Splenomegaly, Ataxia, Abnormal ... |
ORPHA:158048 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Leukocytosis, Hepatomegaly, Chronic lymphatic leukemia, Normocytic anemia, Lymphadenopathy, Normo... |
ORPHA:98849 |
Primary Lipodystrophy |
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Cirrhosis, Hepatic steatosis, Pancreatitis, Splenomegaly |
ORPHA:90970 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Hepatomegaly, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Erythroid h... |
OMIM:612541 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
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Microvesicular hepatic steatosis, Hepatomegaly, Macronodular cirrhosis, Lymphadenopathy, Anemia, ... |
OMIM:619418 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Hepatocellular adenoma, Anemia, Splenom... |
ORPHA:79240 |
Cataract 5, Multiple Types |
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Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract |
OMIM:116800 |
Kaposiform Lymphangiomatosis |
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Pancreatic cysts, Abnormal lymphatic vessel morphology, Lymphangioma, Abnormality of the lymphati... |
ORPHA:464329 |
Oculoskeletodental Syndrome |
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Hepatomegaly, Developmental cataract, Splenomegaly |
OMIM:618440 |
Essential Thrombocythemia |
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Abnormal platelet morphology, Acute leukemia, Splenomegaly |
ORPHA:3318 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomato... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomato... |
OMIM:233710 |
Mucopolysaccharidosis Type 7 |
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Corneal opacity, Hepatitis, Ascites, Splenomegaly |
ORPHA:584 |
Hereditary Fructose Intolerance |
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Hepatomegaly, Jaundice, Cataract, Chronic hepatic failure, Lethargy |
ORPHA:469 |
X-Linked Lymphoproliferative Disease |
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Lymphadenopathy, Splenomegaly, Absent natural killer cells, Hepatosplenomegaly, Lymphocytosis, Pa... |
ORPHA:2442 |
Purine Nucleoside Phosphorylase Deficiency |
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Lymph node hypoplasia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasi... |
OMIM:613179 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
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Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly |
OMIM:153670 |
Chédiak-Higashi Syndrome |
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Abnormal natural killer cell morphology, Gait disturbance, Neutropenia, Thrombocytopenia, Elevate... |
ORPHA:167 |
Hermansky-Pudlak Syndrome 2 |
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Hepatomegaly, Neutropenia, Ocular albinism, Enlarged platelet dense granules, Absent platelet den... |
OMIM:608233 |
Granulomatous Disease, Chronic, X-Linked |
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Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomato... |
OMIM:306400 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Granulomato... |
OMIM:233690 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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B lymphocytopenia, Hepatomegaly, Reduced red cell adenosine deaminase level, Splenomegaly, Aplasi... |
OMIM:102700 |
Common Variable Immunodeficiency |
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Lymphadenopathy, Splenomegaly, Abnormality of the liver, Autoimmune thrombocytopenia, Lymphopenia... |
ORPHA:1572 |
Autosomal Recessive Polycystic Kidney Disease |
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Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Hepatic fibrosis, Pan... |
ORPHA:731 |
Pearson Syndrome |
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Hepatomegaly, Neutropenia, Thrombocytopenia, Macronodular cirrhosis, Elevated hepatic transaminas... |
ORPHA:699 |
Hyperlipoproteinemia, Type I |
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Jaundice, Hepatosplenomegaly, Pancreatitis, Splenomegaly |
OMIM:238600 |
Tyrosinemia, Type I |
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Hepatomegaly, Hepatocellular carcinoma, Ascites, Splenomegaly, Cirrhosis, Pancreatic islet-cell h... |
OMIM:276700 |
Hardikar Syndrome |
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Cholangitis, Hepatomegaly, Hepatic fibrosis, Elevated hepatic transaminase, Intrahepatic bile duc... |
OMIM:301068 |
Adams-Oliver Syndrome 5 |
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Right ventricular hypertrophy, Hypersplenism, Splenomegaly |
OMIM:616028 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Leukocytosis, Hepatomegaly, Thrombocytosis, Leukopenia, Elevated hepatic transaminase, Lymphadeno... |
OMIM:615688 |
Gray Platelet Syndrome |
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Thrombocytopenia, Abnormal number of alpha granules, Splenomegaly |
OMIM:139090 |
Q Fever |
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Hepatomegaly, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Abnormality of the liver, Hepatos... |
ORPHA:781 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Hepatomegaly, Corneal arcus, Pancreatic hypoplasia, Lymphadenopathy, Retroperitoneal fibrosis, Ca... |
OMIM:602782 |
Mastocytosis |
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Hepatomegaly, Acute leukemia, Chronic leukemia, Splenomegaly, Mastocytosis |
ORPHA:98292 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
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B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Sideroblastic anemia, Splenomeg... |
OMIM:616084 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Corneal opac... |
OMIM:221900 |
Reynolds Syndrome |
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Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Biliary cirrhosis, Jaundice |
OMIM:613471 |
Glycogen Storage Disease Ii |
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Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:232300 |
Polycythemia Vera |
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Hepatomegaly, Portal hypertension, Acute leukemia, Splenomegaly |
ORPHA:729 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
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Hepatomegaly, Neutrophilia, Splenomegaly |
OMIM:612852 |
Alagille Syndrome 1 |
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Hepatocellular carcinoma, Elevated hepatic transaminase, Posterior embryotoxon, Axenfeld anomaly,... |
OMIM:118450 |
Autoimmune Lymphoproliferative Syndrome |
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Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
ORPHA:3261 |
Familial Tumoral Calcinosis |
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Hepatomegaly, Splenomegaly |
ORPHA:53715 |
Meckel Syndrome |
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Microcornea, Pancreatic cysts, Asplenia, Congenital hepatic fibrosis, Sclerocornea, Aplasia/Hypop... |
ORPHA:564 |
Gaucher Disease Type 3 |
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Hepatomegaly, Gait disturbance, Anemia, Splenomegaly, Ataxia, Pancytopenia, Thrombocytopenia |
ORPHA:77261 |
Aniridia 1 |
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Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... |
OMIM:106210 |
Porphyria, Congenital Erythropoietic |
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Corneal scarring, Cholelithiasis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Conjunctivitis |
OMIM:263700 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Heterochromia iridis, Hepatomegaly, Ataxia, Splenomegaly |
ORPHA:163746 |
Hyperparathyroidism, Neonatal Severe |
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Hepatomegaly, Anemia, Splenomegaly |
OMIM:239200 |
Syndromic Diarrhea |
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Hepatomegaly, Thrombocytosis, Increased mean platelet volume, Hepatic fibrosis, Hypoplasia of the... |
ORPHA:84064 |
Hyper-Igd Syndrome |
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Leukocytosis, Lymphadenopathy, Lymphadenitis, Splenomegaly, Neutrophilia, Hepatosplenomegaly |
OMIM:260920 |
Kikuchi-Fujimoto Disease |
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Hepatomegaly, Neutropenia, Leukopenia, Elevated hepatic transaminase, Lymphadenopathy, Anemia, Ab... |
ORPHA:50918 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Abnormality of the spleen, Hepatic fibrosis, Anemia, Cholelithiasis, Splenomegaly, Hepatosplenome... |
ORPHA:2072 |
African Trypanosomiasis |
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Conjunctivitis, Hepatomegaly, Gait disturbance, Lymphadenopathy, Aggressive behavior, Apathy, Spl... |
ORPHA:3385 |
Plague |
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Mydriasis, Hepatomegaly, Enlarged mesenteric lymph node, Conjunctival hyperemia, Lymphadenitis, S... |
ORPHA:707 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic steatosis, Acute pancreatitis, Elevated hepatic tr... |
OMIM:608594 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic steatosis, Acute pancreatitis, Elevated hepatic tr... |
OMIM:269700 |
Triglyceride Deposit Cardiomyovasculopathy |
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Vacuolated lymphocytes, Hepatomegaly, Pancreatitis, Splenomegaly |
ORPHA:565612 |