Schizophrenia 19 |
|
Cognitive impairment |
OMIM:617629 |
Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
Myh9-Related Disease |
|
Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platelet volume, Preseni... |
ORPHA:182050 |
Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... |
OMIM:187800 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure, Anemia |
ORPHA:46532 |
Immunodeficiency 18 |
|
Recurrent gastroenteritis, Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Bleeding Disorder, Platelet-Type, 15 |
|
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis |
OMIM:615193 |
Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Thrombocytopenia, Giant platelets |
OMIM:137560 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... |
OMIM:155100 |
Fechtner syndrome |
|
Neutrophil inclusion bodies, Leukocyte inclusion bodies, Developmental cataract, Giant platelets,... |
OMIM:153640 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Neutrophilia, Hereditary |
|
Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal malrotation, Increased mean platelet volume, Pyloric stenosis, Intestinal pseudo-obstr... |
OMIM:300048 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Gastroi... |
OMIM:231200 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract, Splenomegaly |
OMIM:619813 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Tyrosinemia Type 1 |
|
Rickets of the lower limbs, Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatocellular car... |
ORPHA:882 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Osteoporosis, Biliary tract abnormality, El... |
ORPHA:79301 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... |
OMIM:269600 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Cataract |
ORPHA:79281 |
Progressive Familial Intrahepatic Cholestasis |
|
Malabsorption, Hepatomegaly, Reduced bone mineral density, Splenomegaly, Cholestasis, Abnormality... |
ORPHA:172 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Slc35A1-Cdg |
|
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia |
ORPHA:238459 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
High palate, Hepatomegaly, Cataract, Epiphyseal stippling |
OMIM:614882 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Sitosterolemia 1 |
|
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Arthritis, Impaired platelet aggregatio... |
OMIM:210250 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Abnormality of the gastrointestinal tract, Splenomegaly |
ORPHA:52416 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Immunodeficiency 76 |
|
Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy |
OMIM:619164 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Cataract 20, Multiple Types |
|
Membranous cataract, Cataract |
OMIM:116100 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Cataract |
OMIM:273680 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly |
OMIM:153670 |
Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
Immunodeficiency 104 |
|
Hepatomegaly, Gastroesophageal reflux, Splenomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Osteoporosis, Abnormal B cell count, Osteolysis, Anemia, Lymphadenopathy |
ORPHA:100024 |
Pelger-Huet Anomaly |
|
Median cleft palate, Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant pla... |
OMIM:169400 |
Alpha-1-Antitrypsin Deficiency |
|
Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Gastric varix |
OMIM:613490 |
Hepatoportal Sclerosis |
|
Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa... |
ORPHA:64743 |
Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Glossoptosis, Elevated circulating aspartate aminotransferase concentration, Catara... |
OMIM:614876 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphocytosis, Decreased mean platelet volume, Inflammation of the large intestine, Thrombocytope... |
OMIM:617718 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia, Absence of intrinsic factor |
OMIM:243320 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Conjunctivitis, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopen... |
OMIM:603552 |
Neonatal Severe Primary Hyperparathyroidism |
|
Recurrent fractures, Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyr... |
ORPHA:417 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Esophageal varix, Portal hypertension |
OMIM:617068 |
Immunodeficiency 31C |
|
Lymphopenia, Osteopenia, Hypothyroidism, Villous atrophy, Delayed puberty, Diabetes mellitus, Aut... |
OMIM:614162 |
Immunodeficiency 24 |
|
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... |
OMIM:615897 |
Syndromic Diarrhea |
|
Colitis, Lymphopenia, Hepatoblastoma, Gastritis, Splenomegaly, Hepatomegaly, Cirrhosis, Hypoplasi... |
ORPHA:84064 |
Immunodeficiency 19 |
|
Lymphopenia |
OMIM:615617 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Follicular h... |
OMIM:614470 |
Lathosterolosis |
|
High palate, Hepatosplenomegaly, Anisopoikilocytosis, Osteoporosis, Acanthocytosis, Schistocytosi... |
OMIM:607330 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Galactose Epimerase Deficiency |
|
Cataract, Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:79238 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... |
ORPHA:231222 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Hypog... |
OMIM:615234 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Wolman Disease |
|
Adrenal insufficiency, Hepatomegaly, Steatorrhea, Splenomegaly, Adrenal calcification, Hepatic fa... |
ORPHA:75233 |
Immunodeficiency 69 |
|
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Osteopetrosis, Anemia, Thrombocytopenia |
OMIM:615085 |
Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis, Abnormal platelet morpho... |
ORPHA:2978 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Abnormal cortical bone morphology, Craniofacial hyperostosis, Splenomegaly |
ORPHA:1802 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... |
ORPHA:75564 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Adrenal calcification, Cirrhosis, Hepatic failure, Esophageal varix, ... |
ORPHA:75234 |
Osteopetrosis, Autosomal Dominant 3 |
|
Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopenia, Hyperparathyroidism, Anemia |
OMIM:618107 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Hepatomegaly, Splenomegaly, Abnormality of the small intestine, Anemia, Ascites, L... |
ORPHA:100025 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Type II diabetes mellitus, Hepatomegaly, Splenome... |
OMIM:616860 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Immunodeficiency 105 |
|
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Absence of lymph node germ... |
OMIM:619924 |
Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Malabsorption, Absence of intrinsic fact... |
OMIM:261000 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187950 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Steatorrhea, Hepatic failure, Elevated circulating aspartate aminotransferase conce... |
OMIM:278000 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Splenomegaly, Osteopenia, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic... |
OMIM:602347 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... |
ORPHA:846 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... |
OMIM:619375 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Felty Syndrome |
|
Rheumatoid arthritis, Splenomegaly, Neutropenia |
OMIM:134750 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
Splenoportal Vascular Anomalies |
|
Splenomegaly, Cirrhosis, Hepatic fibrosis, Diabetes mellitus, Ascites, Anomalous splenoportal ven... |
OMIM:271500 |
Osteopetrosis, Autosomal Recessive 4 |
|
Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopetrosis, Hepatosplenomegaly, Reticulocytos... |
OMIM:611490 |
Cholestasis-Lymphedema Syndrome |
|
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Neonatal cho... |
OMIM:214900 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Osteopetrosis, Hepatosple... |
OMIM:612840 |
Galactosemia Iv |
|
Cataract, Prolonged neonatal jaundice |
OMIM:618881 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Hypogonad... |
OMIM:613313 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Hypothyr... |
OMIM:618849 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly |
OMIM:269840 |
Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Bifid uvula, Cholestasis, Abnormality of ... |
OMIM:222470 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Calvarial hyper... |
OMIM:612714 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Reduced bone mineral density, Splenomegaly, Cirrhosis, Abnormality of the lymphatic... |
ORPHA:1414 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... |
OMIM:619463 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Neutropenia |
OMIM:162800 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Reduced bone mineral density, Hy... |
ORPHA:848 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Anisopoikilocytosis, Anemia, Thrombocytopenia |
OMIM:617441 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Colitis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Lymphadeno... |
OMIM:613101 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Myelofibrosis, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia,... |
OMIM:301078 |
Schnitzler Syndrome |
|
Hepatomegaly, Increased bone mineral density, Leukocytosis, Splenomegaly, Arthritis, Anemia, Lymp... |
ORPHA:37748 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:124900 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Oste... |
OMIM:211600 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia, Limitation of joint mobility, Arthritis |
ORPHA:2582 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic... |
OMIM:619658 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... |
OMIM:615513 |
Dysplastic Cortical Hyperostosis |
|
Abnormal cortical bone morphology, Hepatomegaly, Increased bone mineral density, Splenomegaly |
ORPHA:2204 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Choles... |
OMIM:620010 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Galactosemia Ii |
|
Cataract, Prolonged neonatal jaundice |
OMIM:230200 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Osteoporosis, Mastocytosis, Increased ... |
ORPHA:98848 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Bone-marrow foam cells, Anemia, Thrombocytopenia |
OMIM:607616 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Steatorrhea, Splenomegaly, Cirrhosis, Hepatic failure, Elevat... |
OMIM:607765 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated hepatic transaminas... |
OMIM:616278 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... |
ORPHA:2585 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity, Abnormal stomach morphology, Testicular seminoma, Hypogonadism, Cryptorchidism, ... |
ORPHA:281090 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
Hemochromatosis, Type 3 |
|
Lymphopenia, Cirrhosis, Hypogonadotropic hypogonadism, Arthritis, Elevated hepatic transaminase, ... |
OMIM:604250 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Cirrhosis, Osteoarthritis, Cataract, Diabetes mellitus, Anemia, Hepatic steatosis |
OMIM:606069 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Pfapa Syndrome |
|
Malabsorption, Hepatomegaly, Splenomegaly, Arthritis, Lymphadenopathy |
ORPHA:42642 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy |
ORPHA:66661 |
Immunodeficiency 97 With Autoinflammation |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Colitis, Hemophagocytosis, Spl... |
OMIM:619802 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Hematemesis, Decreased platelet glycoprotein Ib... |
ORPHA:274 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Rheumatoid arthritis, Autoimmune thrombocytopenia, Lymphadenopathy, A... |
ORPHA:100026 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... |
OMIM:150550 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Colitis, Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplastic anemia, Inflammation of the large... |
OMIM:300635 |
Budd-Chiari Syndrome |
|
Malabsorption, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Peritonitis, Cholecy... |
ORPHA:131 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Erythrocytosis, Familial, 8 |
|
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Polycythemia, Normocytic anemia, C... |
OMIM:222800 |
Lymphoid System Deterioration, Progressive |
|
Abnormal T cell morphology, Lymphopenia |
OMIM:247630 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al... |
ORPHA:3453 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Cataract |
OMIM:618660 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:601859 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Recurrent fractures, Reduced bone mineral density, Hypergonadotropic hypogonadism, Absence of sec... |
ORPHA:2410 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia |
OMIM:616176 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Aggressive Systemic Mastocytosis |
|
Decreased liver function, Malabsorption, Neutropenia, Abnormal mast cell morphology, Leukocytosis... |
ORPHA:98850 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hep... |
OMIM:615559 |
Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis, Hepatic failure, Splenomegaly |
ORPHA:664 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... |
OMIM:616689 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Hepatocellular ... |
ORPHA:158057 |
Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Leukopenia, Pyloric stenosis, Abnormality of neutrophils, Hepatitis, ... |
ORPHA:381 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Lymphopenia, Hepatomegaly, Splenomegaly, Atrophic gastritis, Autoimmune thromboc... |
OMIM:616100 |
Serrated Polyposis Syndrome |
|
Adenomatous colonic polyposis, Ovarian neoplasm, Neoplasm of the large intestine, Colorectal poly... |
ORPHA:157798 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... |
OMIM:607594 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Follicular hyperplasia, Autoimmune thrombocytopenia, Decreased proportion of class-s... |
OMIM:619846 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Autoimmune thrombocytopenia, Mediastinal lymphadenopathy, Decreased proportion of C... |
OMIM:300853 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... |
OMIM:603554 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... |
OMIM:209950 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:619868 |
Leukodystrophy, Hypomyelinating, 24 |
|
Hypothyroidism, Flexion contracture, Cataract, B lymphocytopenia |
OMIM:619851 |
Gaucher Disease Type 2 |
|
Dysphagia, Hepatomegaly, Flexion contracture, Splenomegaly |
ORPHA:77260 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Crohn's disease, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomegaly, Abscess, L... |
OMIM:618935 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Normocytic anemia, Cholecystitis, ... |
OMIM:235700 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Steatorrhea, Splenomegaly, Cirrhosis, Hepatic failure, Elevated hepatic transaminas... |
OMIM:613812 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis |
OMIM:247800 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly |
OMIM:616719 |
Proteus Syndrome |
|
Lymphangioma, Calvarial hyperostosis, Splenomegaly, Limbal dermoid, Thin bony cortex, Mandibular ... |
OMIM:176920 |
Cronkhite-Canada Syndrome |
|
Malabsorption, Hepatomegaly, Stomach cancer, Splenomegaly, Furrowed tongue, Intestinal polyposis,... |
ORPHA:2930 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Spontaneous hemolytic crises, Impa... |
OMIM:613470 |
Farber Lipogranulomatosis |
|
Hepatomegaly, Splenomegaly, Hyperextensibility of the finger joints, Limitation of knee mobility,... |
OMIM:228000 |
Babesiosis |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Leukopenia, Hemolytic anemia, Thrombocytopenia, Jaun... |
ORPHA:108 |
Nephronophthisis 19 |
|
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation |
OMIM:616217 |
Takenouchi-Kosaki Syndrome |
|
Increased mean platelet volume, Cryptorchidism, Thrombocytopenia, Camptodactyly |
OMIM:616737 |
Immunodeficiency 64 |
|
Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Cervical lymphade... |
OMIM:618534 |
Immunodeficiency 14B, Autosomal Recessive |
|
Colitis, Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Inflammation of the large in... |
OMIM:619281 |
Griscelli Syndrome Type 2 |
|
Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Iris hypopigmentation, Pancytopenia, L... |
ORPHA:79477 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hypogonadism, Hepatomegaly, Flexion contracture, Splenomegaly |
OMIM:608540 |
Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
Wilson Disease |
|
Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis, Hepatic steatosis,... |
ORPHA:905 |
Congenital Rubella Syndrome |
|
Corneal opacity, Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the iris, Type I diabetes mell... |
ORPHA:290 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... |
OMIM:619849 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... |
OMIM:617394 |
Immunodeficiency 54 |
|
Adrenal insufficiency, Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, Lymphadeno... |
OMIM:609981 |
Galactosemia Iii |
|
Hepatomegaly, Jaundice, Splenomegaly |
OMIM:230350 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrocele testis, Limited pronation/supination of forearm, Cleft palate, Congenital thrombocytope... |
OMIM:616738 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenome... |
OMIM:616828 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Increas... |
OMIM:194380 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Duodenal atresia, Lymphopenia, Enterocolitis, Leukocytosis, Jejunal atresia, Intestinal atresia, ... |
OMIM:243150 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia... |
OMIM:619041 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Exocrine pancreatic insufficiency, Type II diabetes mellitus, Band keratopathy, Hyperthy... |
OMIM:269200 |
Coproporphyria, Hereditary |
|
Jaundice, Hepatomegaly, Increased fecal coproporphyrin 3, Splenomegaly |
OMIM:121300 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Pancytopenia, Thro... |
OMIM:610333 |
Storage Pool Platelet Disease |
|
Acute leukemia, Decreased mean platelet volume |
OMIM:185050 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Intermediate Osteopetrosis |
|
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ... |
ORPHA:210110 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... |
OMIM:266200 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:182900 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepatic failure, Fulmin... |
OMIM:308240 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Osteopenia, Leukopenia, Osteoarthriti... |
ORPHA:77259 |
Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... |
ORPHA:98826 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:603909 |
Hurler-Scheie Syndrome |
|
Corneal opacity, Hepatomegaly, Splenomegaly, Abnormality of the tonsils, Limitation of joint mobi... |
ORPHA:93476 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Abnormality of the lymph nodes, Brain abscess, Abnormality of the lymphatic system,... |
ORPHA:54251 |
Infantile Sialic Acid Storage Disease |
|
High palate, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Osteopenia, Ascites, Cardiomegaly |
OMIM:269920 |
46,Xy Sex Reversal 3 |
|
Sex reversal, Hypoplasia of the uterus, Gonadal dysgenesis, Ambiguous genitalia, Penoscrotal hypo... |
OMIM:612965 |
Oculocerebral Hypopigmentation Syndrome Of Preus |
|
High palate, Cataract, High, narrow palate, Hypochromic anemia |
OMIM:257790 |
3-Methylglutaconic Aciduria Type 4 |
|
Iris hypopigmentation, Thrombocytopenia, Cataract, Decreased liver function |
ORPHA:67048 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Fat ma... |
OMIM:601847 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Gastroesophageal reflux, Hepatomegaly, Type I diabetes mellitus, Cataract, Pancytopenia, Epiphyse... |
ORPHA:251009 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count,... |
ORPHA:3226 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Osteopenia, Osteoporosis, Adrenal hyperplasia, Primary hype... |
OMIM:219080 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... |
ORPHA:169154 |
Sialidosis Type 2 |
|
Corneal opacity, Hepatomegaly, Flexion contracture, Splenomegaly, Osteoporosis, Ascites |
ORPHA:87876 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Anemia, Splenomegaly |
ORPHA:75563 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Arthritis |
OMIM:602390 |
Leishmaniasis |
|
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Elevated hepatic transami... |
ORPHA:507 |
Macrophage Activation Syndrome |
|
Decreased liver function, Hepatomegaly, Hemophagocytosis, Splenomegaly, Juvenile rheumatoid arthr... |
ORPHA:158061 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Colitis, Lymphopenia, Hemolytic anemia, Ileal ulcer, Thrombocytopenia |
OMIM:616744 |
Fish-Eye Disease |
|
Corneal opacity, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
Neuraminidase Deficiency |
|
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Cardiomegaly, Ascites, Cataract, Bone-marrow ... |
OMIM:256550 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... |
OMIM:618986 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thrombocytopenia |
ORPHA:158029 |
Alpha-Mannosidosis |
|
Corneal opacity, Narrow palate, Hepatomegaly, Type II diabetes mellitus, Macroglossia, Splenomega... |
ORPHA:61 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
Galactose Mutarotase Deficiency |
|
Decreased liver function, Hepatomegaly, Cataract, Cholestasis |
ORPHA:570422 |
Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia |
ORPHA:859 |
Caroli Disease |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrhosis, Cholesta... |
ORPHA:53035 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Osteopenia, Osteoporosis, Adrenal hyperplasia, Primary hype... |
OMIM:615830 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli... |
ORPHA:98849 |
Lymphangiectasia, Intestinal |
|
Malabsorption, Lymphopenia, Intestinal lymphangiectasia |
OMIM:152800 |
Mevalonic Aciduria |
|
Cataract, Splenomegaly |
ORPHA:29 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Ileus, Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Arthritis, Hy... |
OMIM:304790 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Cataract, Jaundice |
OMIM:608885 |
Essential Thrombocythemia |
|
Myelofibrosis, Splenomegaly, Abnormal platelet morphology, Abnormality of thrombocytes, Acute leu... |
ORPHA:3318 |
Autoinflammation With Infantile Enterocolitis |
|
Enterocolitis, Splenomegaly, Villous atrophy, Pancytopenia, Anemia, Thrombocytopenia, Reduced nat... |
OMIM:616050 |
Macrocephaly/Autism Syndrome |
|
Lymphopenia, Hepatomegaly, Splenomegaly |
OMIM:605309 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice |
OMIM:185000 |
Ghosal Hematodiaphyseal Dysplasia |
|
Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Leukopenia, Bone m... |
OMIM:231095 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Bleeding Disorder, Platelet-Type, 17 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187900 |
Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology, Hepatomegaly, Biliary tract abnormality, Jaundice, Abnormalit... |
ORPHA:234 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor ex... |
OMIM:602450 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Steatorrhea, Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Neutropenia |
OMIM:618752 |
Spherocytosis, Type 4 |
|
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:612653 |
Fetal Gaucher Disease |
|
High palate, Hepatomegaly, Flexion contracture, Splenomegaly, Abnormality of the spleen, Arthrogr... |
ORPHA:85212 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Arthritis, Lymphadenopathy, Leukocytosis, Splenomegaly |
OMIM:611762 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Thrombocytopenia 1 |
|
Joint hemorrhage, Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean plat... |
OMIM:313900 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Hepatoc... |
OMIM:235200 |
Spherocytosis, Type 2 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:616649 |
Primary Myelofibrosis |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm... |
ORPHA:824 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hiatus hernia, Hepatomegaly, Splenomegaly, Buphthalmos, Osteopenia, Congenital hypothyroidism, De... |
OMIM:610199 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Splenomegaly, Dysphagia, Anemia, Thrombocytopenia |
OMIM:230900 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased proportion of CD4-... |
OMIM:613011 |
Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransfera... |
OMIM:257200 |
Cataract 9, Multiple Types |
|
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract |
OMIM:604219 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Steatorrhea, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, Intrahep... |
OMIM:235555 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... |
OMIM:617780 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly |
OMIM:314050 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Diabetes mellitus, Hepatic steatosis |
OMIM:612526 |
Immunodeficiency 95 |
|
Lymphopenia |
OMIM:619773 |
Wiskott-Aldrich Syndrome |
|
Melena, Lymphopenia, Hematemesis, Eosinophilia, Absent microvilli on the surface of peripheral bl... |
OMIM:301000 |
Gaucher Disease, Type Iii |
|
Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancytopenia |
OMIM:231000 |
46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Vanishing testis, Abno... |
OMIM:273250 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Colitis, Splenomegaly, Atrophic gastritis, Autoimmune thrombocytopenia, B lymphocytopenia, Arthri... |
OMIM:614700 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Anisocytosis, Jaundice, Hypoparathyroidism, Adrenal insufficie... |
ORPHA:231226 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Lymphadenopathy |
OMIM:618495 |
Gray Platelet Syndrome |
|
Impaired collagen-induced platelet aggregation, Myelofibrosis, Splenomegaly, Abnormal number of a... |
OMIM:139090 |
Majeed Syndrome |
|
Malabsorption, Osteomyelitis, Hepatomegaly, Increased bone mineral density, Leukocytosis, Congeni... |
ORPHA:77297 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Hepatomegaly, Microcytic anemia, Cataract, Elevated circulating alanine aminotransf... |
OMIM:618805 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Spherocytosis, Splenomegaly |
ORPHA:66518 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Abnormality of the endocrine system, Flexion contracture, Abnormality of the lymphatic system, Ca... |
ORPHA:487796 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:612126 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus |
OMIM:618078 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphopenia, Hepatomegaly, Eosinophilia, Hepatosplenomegaly, Lymphadenitis... |
ORPHA:331206 |
Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... |
OMIM:309300 |
Senior-Loken Syndrome |
|
Cataract, Abnormality of bone mineral density, Congenital hepatic fibrosis |
ORPHA:3156 |
Cryohydrocytosis |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly |
OMIM:185020 |
Chronic Granulomatous Disease |
|
Malabsorption, Hepatomegaly, Splenomegaly, Tracheoesophageal fistula, Mediastinal lymphadenopathy... |
ORPHA:379 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Cholestasis, Splenomegaly |
OMIM:105200 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Anisopoikilocyt... |
ORPHA:231214 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:79312 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Colitis, Splenomegaly, Decreased basophil count, Ulcerative colitis, Pancytopeni... |
OMIM:618394 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia, ... |
OMIM:615122 |
Felty Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Arthritis, Osteolysis, Synovitis, Neu... |
ORPHA:47612 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... |
OMIM:613673 |
Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Intestinal polyp, Duodenal ulcer, St... |
ORPHA:263665 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Absence of lymph node germinal center, B lymphocytopenia, T lymphocytopenia, Absent ... |
ORPHA:277 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, B Acute Lymphoblast... |
OMIM:619824 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Increased serum testosterone level, Cleft palate, Congenital adrenal hyperplasi... |
ORPHA:96181 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
Acute Panmyelosis With Myelofibrosis |
|
Lymphocytosis, Myelofibrosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Bone mar... |
ORPHA:86843 |
Harderoporphyria |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Prolonged neonatal jaundice, Reticulocytosis |
OMIM:618892 |
Follicular Lymphoma |
|
Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly |
ORPHA:545 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating ACTH level, Congenital adrenal hyperplasia |
OMIM:613571 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Periostitis, Osteomyelitis, Hepatomegaly, Neutrophilia, Splenomegaly, Osteopenia, Abscess, Fused ... |
OMIM:612852 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Leydig Cell Hypoplasia |
|
Cryptorchidism, Abnormal external genitalia, Abnormal vas deferens morphology, Hypergonadotropic ... |
ORPHA:755 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla... |
OMIM:600903 |
Noonan Syndrome 12 |
|
Thrombocytopenia, Lymphopenia, Decreased response to growth hormone stimulation test, Anteriorly ... |
OMIM:618624 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt... |
OMIM:300908 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Anisocy... |
OMIM:224120 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Cyclic Neutropenia |
|
Lymphopenia, Enterocolitis, Recurrent tonsillitis, Cervical lymphadenopathy, Peritonitis, Cyclic ... |
ORPHA:2686 |
Classic Mycosis Fungoides |
|
Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:2584 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Recurrent infection of the gastrointestinal tract, Hepatomegaly, Hepatic failure, Splenomegaly, C... |
OMIM:613489 |
Hardikar Syndrome |
|
Hepatomegaly, Hepatic failure, Cholestasis, Esophageal varix, Prolonged neonatal jaundice, Bile d... |
OMIM:301068 |
Elliptocytosis 1 |
|
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly |
OMIM:611804 |
Neonatal Lupus Erythematosus |
|
Neutropenia, Hepatomegaly, Splenomegaly, Hepatic failure, Aplastic anemia, Hemolytic anemia, Elev... |
ORPHA:398124 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, Pi... |
ORPHA:189439 |
Immunodeficiency 36 |
|
Lymphopenia, Enlarged tonsils, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decre... |
OMIM:616005 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... |
OMIM:109270 |
Immunodeficiency 13 |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... |
OMIM:251880 |
Galactosemia I |
|
Decreased liver function, Hepatomegaly, Hypergonadotropic hypogonadism, Cirrhosis, Elevated circu... |
OMIM:230400 |
Adult-Onset Still Disease |
|
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Arthritis, Generalized lymphadenopathy, H... |
ORPHA:829 |
Osteopetrosis, Autosomal Recessive 1 |
|
Osteomyelitis, Hepatomegaly, Increased bone mineral density, Craniosynostosis, Splenomegaly, Oste... |
OMIM:259700 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans... |
OMIM:613027 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Pyloric stenosis, Abdominal adhesions, Cataract, Developmental cataract, Neutropenia... |
OMIM:616395 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphopenia, Hepatomegaly, Flexion contracture, Splenomegaly, Arthritis, Elevated hepatic transam... |
OMIM:617591 |
Thrombocytopenia, Paris-Trousseau Type |
|
Pyloric stenosis, Thrombocytopenia |
OMIM:188025 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Reduced bone mineral density, Splenomegaly, Iris hypopigmentation, Ascites |
ORPHA:834 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Cholelithiasis, Hypoparathyroidism, Malabsorption, Chronic active hepatitis, Adrenal insufficienc... |
OMIM:240300 |
Galactosemia |
|
Hepatomegaly, Reduced bone mineral density, Hepatic failure, Cirrhosis, Abnormal erythrocyte enzy... |
ORPHA:352 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Alpha-Mannosidosis, Adult Form |
|
Recurrent gastroenteritis, Corneal opacity, Macroglossia, Osteopenia, Hepatosplenomegaly, Catarac... |
ORPHA:309288 |
Immunodeficiency 44 |
|
Elevated circulating alanine aminotransferase concentration, Lymphopenia |
OMIM:616636 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Thrombocytopenia, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia |
OMIM:603585 |
Autoimmune Hepatitis |
|
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... |
ORPHA:2137 |
Immunodeficiency 85 And Autoimmunity |
|
Oligoarthritis, Lymphopenia, T lymphocytopenia, Villous atrophy, Decreased proportion of CD4-posi... |
OMIM:619510 |
Omenn Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte morphology, Hypothyro... |
ORPHA:39041 |
Adult Idiopathic Neutropenia |
|
Lymphopenia, Monocytosis, Helicobacter pylori infection, Neutropenia, Monocytopenia |
ORPHA:2688 |
Immunodeficiency 32B |
|
Splenomegaly |
OMIM:226990 |
Chediak-Higashi Syndrome |
|
Hepatomegaly, Ocular albinism, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopeni... |
OMIM:214500 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Hemophagocytosis, Acute hepatic failure, Hepatosplenomegaly, Monocyto... |
OMIM:619644 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... |
ORPHA:754 |
Hereditary Elliptocytosis |
|
Cholelithiasis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia, Poikilocytosis, Cong... |
ORPHA:288 |
Cinca Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Reduced bone mineral density, Abnormal granulocyte morp... |
ORPHA:1451 |
Myelofibrosis |
|
Myeloproliferative disorder, Myelofibrosis, Splenomegaly |
OMIM:254450 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Stomach can... |
ORPHA:2494 |
46,Xy Sex Reversal 7 |
|
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... |
OMIM:233420 |
Classic Galactosemia |
|
Hepatomegaly, Reduced bone mineral density, Hepatic failure, Osteoporosis, Abnormal erythrocyte e... |
ORPHA:79239 |
Congenital Tufting Enteropathy |
|
Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo... |
ORPHA:92050 |
Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Arthritis, Gastrointest... |
ORPHA:91138 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size, A... |
OMIM:614837 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Congenital pyloric atresia, Flexion contracture |
OMIM:612138 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Lymphopenia, Recurrent infection of the gastrointestinal tract, Osteopenia, Eosinophilia, Monocyt... |
ORPHA:486 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism, Adrenogenital syndrome |
OMIM:103900 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Abnormality of the endocrine system, Neutropenia in presence of anti-neutropil antibodies, Lympho... |
ORPHA:391487 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice |
ORPHA:59303 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly |
OMIM:133100 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Conjunctivitis |
OMIM:240500 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Hepatomegaly, Splenomegaly |
ORPHA:163596 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal vagina morphology, Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, ... |
ORPHA:168563 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... |
OMIM:242700 |
Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Esophageal varix, Portal hypertension, Splenomegaly |
OMIM:616589 |
Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Adrenal hyperplasia, Increased circulating cortisol level |
OMIM:614190 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, In... |
ORPHA:189427 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Osteolysis, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:391 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Osteoporosis, Macronodular adrenal hyperplasia, Increased u... |
OMIM:615954 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor... |
ORPHA:44890 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Cleft palate, Splenomegaly, Hepatosplenomegaly, Intrahepatic biliary dysgenesis, Op... |
OMIM:614866 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Joint stiffness, Cholangiocarcinoma, Testicular atrophy, Hepatomegaly, Decreased serum testostero... |
ORPHA:465508 |
Systemic Lupus Erythematosus 17 |
|
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:56425 |
Hereditary Spherocytosis |
|
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... |
ORPHA:822 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... |
ORPHA:404 |
Sickle Cell Anemia |
|
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Cardiom... |
OMIM:603903 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transami... |
ORPHA:567983 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Splenomegaly, Corneal neovascularization, Hypereosinophilia, Punctate keratitis, Au... |
OMIM:617388 |
Stiff Skin Syndrome |
|
Gastroesophageal reflux, Camptodactyly, Cataract, Elbow flexion contracture, Knee flexion contrac... |
OMIM:184900 |
Isolated Biliary Atresia |
|
Decreased liver function, Hepatomegaly, Periportal fibrosis, Splenomegaly, Cirrhosis, Cholestasis... |
ORPHA:30391 |
Pediatric-Onset Graves Disease |
|
Keratitis, Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Graves disease, Cr... |
ORPHA:525731 |
Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Lymphadenopathy, Splenomegaly |
OMIM:607271 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cryptorchidism, Hepatomegaly, Cataract |
OMIM:613730 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Anemia, Ascites, Splenomegaly |
ORPHA:1046 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Dexamethasone-... |
ORPHA:403 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Splenomegaly, Intestinal malrotation, Cirrhosis, Pancreatic fibrosis, Hyperechogeni... |
OMIM:208540 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, ... |
ORPHA:2442 |
Reynolds Syndrome |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Hepatomegaly, Cirrhosis, Xerostomia,... |
ORPHA:779 |
Mixed Connective Tissue Disease |
|
Joint stiffness, Gastritis, Gastroesophageal reflux, Hepatomegaly, Splenomegaly, Leukopenia, Xero... |
ORPHA:809 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
Ataxia-Telangiectasia |
|
Type II diabetes mellitus, Lymphopenia, Elevated hepatic transaminase, Delayed puberty, Diabetes ... |
ORPHA:100 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Osteoporosis, Abnormal erythrocyte enzyme level, Hepatocel... |
ORPHA:264580 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cholestasis, Elevated hepatic transaminase, He... |
OMIM:618641 |
Pseudo-Torch Syndrome 1 |
|
High palate, Decreased liver function, Hepatomegaly, Splenomegaly, Opacification of the corneal s... |
OMIM:251290 |
Complete Androgen Insensitivity Syndrome |
|
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... |
ORPHA:99429 |
Mirage Syndrome |
|
Adrenal insufficiency, Lymphopenia, Gastroesophageal reflux, Cryptorchidism, Hypergonadotropic hy... |
OMIM:617053 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Anemia, Hemophagocytosis, Splenomegaly |
OMIM:618398 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Eosinophilia, Hepatosplenomegaly, Hepatitis, Decreased proportion of CD3-positive T ... |
ORPHA:169160 |
Common Variable Immunodeficiency |
|
Anal atresia, Lymphopenia, Gastrointestinal stroma tumor, Splenomegaly, Autoimmune thrombocytopen... |
ORPHA:1572 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly |
OMIM:306000 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Left ventricular hypertrophy, Abnormal circulating renin, Glucocortocoid-ins... |
ORPHA:251274 |
Transaldolase Deficiency |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Hepatosp... |
OMIM:606003 |
Psoriasis 14, Pustular |
|
Oligoarthritis, Neutrophilia, Leukocytosis, Geographic tongue, Furrowed tongue, Cholangitis |
OMIM:614204 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Enterocolitis, Decreased proportion of class-switched memory B cells, Cataract, Corneal erosion, ... |
OMIM:614878 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Abnormality of the uterus, Abn... |
ORPHA:1916 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Gastritis, Hepatomegaly, Bone marrow hypocellularity... |
ORPHA:3261 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Hepatomegaly, Nuclear cataract, Hypergonadotropic hypogonadism, Hepatosplenomeg... |
ORPHA:79237 |
Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Hypoplasia of the iris, Cataract, Iris transillum... |
OMIM:617319 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Decreased liver function, Colitis, Hepatomegaly, Cholestatic liver disease, Hemophagocytosis, Spl... |
ORPHA:540 |
Scleroderma |
|
Keratitis, Osteomyelitis, Intestinal bleeding, Gastroesophageal reflux, Flexion contracture, Abno... |
ORPHA:801 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Leukopenia, Aplastic anemia, Osteoporosis, Pancytopenia, Esophageal stricture, Hepatic fibrosis, ... |
OMIM:613989 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Intestinal lymphangiectasia |
OMIM:207731 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Leukocytosis, Splenomegaly |
OMIM:618042 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Proteus-Like Syndrome |
|
Abnormal pupil morphology, Splenomegaly, Abnormality of the parathyroid gland, Limbal dermoid, Th... |
ORPHA:2969 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201910 |
Partial Androgen Insensitivity Syndrome |
|
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Perineal hypospad... |
ORPHA:90797 |
Hermansky-Pudlak Syndrome 2 |
|
Enlarged platelet dense granules, Gastroesophageal reflux, Hepatomegaly, Ocular albinism, Splenom... |
OMIM:608233 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Multiple joint contractures, Gastroesophageal reflux, Decreased serum t... |
ORPHA:2959 |
Glycogen Storage Disease Ib |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Osteopor... |
OMIM:232220 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Abnormal erythrocyte enzyme leve... |
ORPHA:370 |
Scheie Syndrome |
|
Joint stiffness, Corneal opacity, Hepatomegaly, Splenomegaly, Limitation of joint mobility |
ORPHA:93474 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Flexion contracture, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Splenomegaly, Enlarged kidney, Hepatic cysts, Esophageal varix... |
OMIM:263200 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Macroglossia, Splenomegaly, Hypothyroidism, Protein-losing enteropathy, Elbow flexi... |
OMIM:618440 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
High palate, Lymphopenia, Joint hypermobility, Increased susceptibility to fractures, Neutropenia... |
OMIM:619752 |
Testicular Agenesis |
|
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... |
ORPHA:325124 |
Tetraamelia Syndrome 1 |
|
Anal atresia, Cleft palate, Cataract, Asplenia, Adrenal gland agenesis |
OMIM:273395 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Corneal scarring, Flexion contracture, Abnormal esophagus morphology, Spontaneous esophageal perf... |
OMIM:226600 |
Immunodeficiency 47 |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Cirrh... |
OMIM:300972 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|