Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... |
OMIM:271500 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent... |
OMIM:613313 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
Neonatal Hemochromatosis |
|
Congenital hepatic fibrosis, Increased serum iron, Increased circulating ferritin concentration, ... |
ORPHA:446 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Increased ser... |
OMIM:231100 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:619175 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... |
ORPHA:33402 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hyperlipidemia, Portal fibrosis, ... |
ORPHA:369 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology |
ORPHA:3032 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:232400 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Porphyria Cutanea Tarda, Type I |
|
Hepatic fibrosis |
OMIM:176090 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis |
OMIM:616719 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
Fadd-Related Immunodeficiency |
|
Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Howell-Jolly bo... |
OMIM:613759 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... |
OMIM:278000 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Periportal fibrosis |
OMIM:213010 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... |
OMIM:619111 |
Malaria |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hyperbilirubinemia, Reti... |
ORPHA:673 |
Retinitis Pigmentosa 89 |
|
Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly |
OMIM:618955 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated transferrin saturation, Incr... |
ORPHA:79230 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... |
ORPHA:139507 |
Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, F... |
ORPHA:79319 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom... |
OMIM:616860 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat... |
ORPHA:158057 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta... |
OMIM:619484 |
Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Hepatosplenomegaly, Cholestatic liver disease, Hepatic fibrosis, Hemophagocytosis, ... |
OMIM:619858 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:613812 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hypertriglyceridemia, Hepatic fibrosis |
ORPHA:280356 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:620010 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly |
ORPHA:466794 |
Medullary Thyroid Carcinoma |
|
Neoplasm of the skeletal system, Lymphadenopathy, Neoplasm of the lung, Abnormal liver parenchyma... |
ORPHA:1332 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... |
OMIM:237800 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Hypergalactosemia, Failure to thrive |
OMIM:230350 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Neoplasm, Hypocalcemia, Failure to thrive |
ORPHA:172 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ... |
OMIM:619902 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... |
ORPHA:567983 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Failure to thrive, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Hepatic failure, L... |
OMIM:602579 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... |
OMIM:600803 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ... |
OMIM:155100 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss, B-cell lymphoma, Lymphadenopathy |
ORPHA:52416 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Syndactyly, Anisocytosis, Anemia of inadequate production, Splenom... |
OMIM:615631 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:607616 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Reduced serum a... |
OMIM:613490 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy, Weight ... |
ORPHA:86893 |
Glutathione Peroxidase Deficiency |
|
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia |
OMIM:614164 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... |
OMIM:618963 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Elevated cir... |
OMIM:251880 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... |
OMIM:214900 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Conjuga... |
OMIM:617093 |
Hemoglobin H Disease |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen... |
OMIM:603552 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia |
OMIM:118830 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice |
OMIM:179700 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase... |
OMIM:613752 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Myh9-Related Disease |
|
Elevated hepatic transaminase, Increased mean platelet volume, Giant platelets, Neutrophil inclus... |
ORPHA:182050 |
Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... |
OMIM:187800 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Thro... |
OMIM:606003 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... |
ORPHA:67044 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary to re... |
OMIM:608971 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice, Weight loss |
ORPHA:79238 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... |
OMIM:133180 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:600776 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Thrombocytopenia, Spleno... |
OMIM:210250 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia, Myelodysplasia |
OMIM:162830 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Hepatic fibrosis, Portal hypertension |
OMIM:616589 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
ORPHA:264580 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Upper limb un... |
OMIM:169400 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Syndactyly, Anisocytosis, Anemia of inadequate p... |
OMIM:224120 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Splenomegaly, Obesity, Cholestasis, Hepatic fibrosis, Hepatic failure |
OMIM:615630 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple... |
ORPHA:30391 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate |
OMIM:607361 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyper... |
ORPHA:247585 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia, Finger syndactyly, Radioulnar synostosis, Hip dysplasia, Clinod... |
ORPHA:71289 |
Immunodeficiency 48 |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Absence of CD8-positive T cells |
OMIM:269840 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
Senior-Loken Syndrome 9 |
|
Hepatic fibrosis, Obesity, Cholestasis |
OMIM:616629 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... |
OMIM:300908 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Pancytopenia, Portal hypertension, Hepatic fibrosis, Bone marrow hypocellularity, Abnormally low ... |
OMIM:617341 |
Senior-Loken Syndrome |
|
Congenital hepatic fibrosis |
ORPHA:3156 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615895 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... |
OMIM:601847 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytos... |
ORPHA:66661 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Pigmentary retinopathy, Hy... |
ORPHA:3363 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia, Fava bean-induced hemolytic anemia |
OMIM:618660 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa... |
ORPHA:75234 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... |
OMIM:201475 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Decreased circulating hepcidin concentration, Hep... |
ORPHA:101330 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
ORPHA:79240 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Sandhoff Disease |
|
Splenomegaly, Hepatomegaly, Failure to thrive |
ORPHA:796 |
Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Menorrhagia, Impaired ristocetin-induce... |
OMIM:231200 |
Joubert Syndrome 9 |
|
Hepatic fibrosis |
OMIM:612285 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E... |
OMIM:615486 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Hypocalcemia, Ascites, Anemia |
ORPHA:100025 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Normocytic anemia, Decreased circu... |
OMIM:300972 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:79322 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Crigler-Najjar Syndrome Type 1 |
|
Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n... |
ORPHA:79234 |
Laurence-Moon Syndrome |
|
Congenital hepatic fibrosis, Obesity |
ORPHA:2377 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Hypokalemia, Portal fibrosis, Hepatic... |
OMIM:619377 |
Atransferrinemia |
|
Abnormality of the liver, Hypochromic anemia, Atransferrinemia |
OMIM:209300 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C... |
OMIM:602390 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Erlenmeyer flask deformit... |
OMIM:610539 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hyperlipidemia, Biliary tract abnormal... |
ORPHA:1414 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ... |
OMIM:607765 |
Nephronophthisis 16 |
|
Enlarged kidney, Periportal fibrosis, Cholestasis |
OMIM:615382 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia |
OMIM:261750 |
Bleeding Disorder, Platelet-Type, 21 |
|
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Menorrhagia, Impaired ... |
OMIM:617443 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ... |
OMIM:269920 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... |
OMIM:615415 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... |
ORPHA:231226 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic... |
OMIM:235555 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy... |
OMIM:613101 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he... |
ORPHA:3111 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Portal hypertension, Conjugated hyperbilirubinemia, Jau... |
ORPHA:186 |
Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin con... |
OMIM:618892 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H... |
OMIM:306000 |
Combined Saposin Deficiency |
|
Splenomegaly, Hepatomegaly |
OMIM:611721 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Hypospadias, Broad femoral neck, Cryptorchidism, Giant platelets, Rib fusion, Squared iliac bones... |
OMIM:611209 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly |
ORPHA:417 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Decreased serum zinc, Hepatic fib... |
ORPHA:541423 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Metaphyseal dysplasia, Acute hepatic failure, Neonatal insulin-depend... |
ORPHA:1667 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... |
OMIM:153670 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H... |
OMIM:207900 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Anencephaly 2 |
|
Anophthalmia |
OMIM:619452 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia |
ORPHA:100024 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... |
OMIM:235700 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Elevated hepatic transaminase, Th... |
OMIM:603553 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corp... |
ORPHA:98870 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Epiphyseal dysplasia, Metaphyseal dysplasia, Elevated circulating creatine kinase c... |
OMIM:614727 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Hypospadias, Increased mean platelet volume, Avascular necrosis of the capital femo... |
OMIM:222470 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hemolytic anemia, Failure to thr... |
OMIM:619487 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased s... |
OMIM:616959 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin conce... |
OMIM:615234 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... |
OMIM:211600 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... |
ORPHA:84081 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver, Thrombocytopenia |
ORPHA:1980 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Aceruloplasminemia |
|
Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe... |
ORPHA:48818 |
Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Hyperoxaluria, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... |
ORPHA:71275 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
Lathosterolosis |
|
Elevated hepatic transaminase, Toe syndactyly, Bilobate gallbladder, Increased mean platelet volu... |
OMIM:607330 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:79235 |
Idiopathic Copper-Associated Cirrhosis |
|
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... |
ORPHA:209919 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality |
OMIM:237500 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul... |
OMIM:300635 |
Relapsing Fever |
|
Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio... |
ORPHA:91547 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... |
OMIM:612526 |
Takenouchi-Kosaki Syndrome |
|
Overlapping toe, Hypospadias, Proximal placement of thumb, Increased mean platelet volume, Tapere... |
OMIM:616737 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Abnormal abdomen ... |
OMIM:216360 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Hepatomegaly, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Le... |
OMIM:259720 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif... |
OMIM:613027 |
Hypercholanemia, Familial, 2 |
|
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged neonatal jaun... |
OMIM:619256 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Megaloblastic Anemia, Folate-Responsive |
|
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... |
OMIM:601775 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Hypoalbuminemia, Neoplas... |
ORPHA:171 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... |
OMIM:610199 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Hemolytic anemia, Lymphoproliferative disorder, Autoimmune thrombocyt... |
OMIM:614470 |
Mednik Syndrome |
|
Cirrhosis, Increased circulating very long-chain fatty acid concentration, Hepatic fibrosis, Chol... |
OMIM:609313 |
Wt Limb-Blood Syndrome |
|
Pancytopenia, Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Cryptorchidism, Ulnar... |
OMIM:194350 |
Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Thrombocytopenia |
OMIM:209970 |
Edinburgh Malformation Syndrome |
|
Jaundice, Neonatal hyperbilirubinemia |
OMIM:129850 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Optic atrophy, Hyperammonemia, Anemia, Neutropenia, Pancreatitis, Thr... |
ORPHA:79312 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... |
OMIM:182900 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:158061 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l... |
OMIM:208085 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... |
OMIM:263200 |
Immunodeficiency 24 |
|
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... |
OMIM:615897 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Eosinophilia, Hepatosplenomegaly, Failure to thrive, Hepatic cysts |
OMIM:618999 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Pfapa Syndrome |
|
Splenomegaly, Hepatomegaly, Weight loss, Lymphadenopathy |
ORPHA:42642 |
Preeclampsia/Eclampsia 1 |
|
Elevated hepatic transaminase, Thrombocytopenia |
OMIM:189800 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly... |
OMIM:611881 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterol... |
OMIM:605814 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Jaundice, ... |
OMIM:232800 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... |
ORPHA:507 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... |
OMIM:616649 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Syndromic Diarrhea |
|
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the liver, Hypoplasia ... |
ORPHA:84064 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, T... |
ORPHA:858 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Eosin... |
ORPHA:400 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopa... |
ORPHA:545 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy |
ORPHA:79292 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... |
OMIM:226990 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... |
OMIM:209950 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia, Jaundice |
OMIM:237450 |
Jaundice, Familial Obstructive, Of Infancy |
|
Jaundice, Neonatal hyperbilirubinemia |
OMIM:308600 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia, Jaundice |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Jaundice, Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Crigler-Najjar Syndrome, Type Ii |
|
Jaundice, Unconjugated hyperbilirubinemia |
OMIM:606785 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia |
OMIM:615593 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Hyponatremia, Fatal liver failure in infancy, Hypertriglyceridemia... |
ORPHA:275761 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... |
OMIM:308240 |
Transaldolase Deficiency |
|
Hepatosplenomegaly, Anemia, Abnormal circulating glutamine concentration, Abnormality of the clit... |
ORPHA:101028 |
Bardet-Biedl Syndrome |
|
Hepatic fibrosis, Obesity |
ORPHA:110 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Retinal dystrophy, Hyperbi... |
ORPHA:713 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Leukopenia, Hepatic fibrosis, Bone marrow hypocellularity, Neutrop... |
OMIM:613989 |
Crigler-Najjar Syndrome, Type I |
|
Jaundice, Unconjugated hyperbilirubinemia |
OMIM:218800 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Optic atrophy, Hyperammonemia, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:289916 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... |
OMIM:613011 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Anterior rib cupping, Splenomegaly, Proximal femoral metaphyseal irregul... |
OMIM:602271 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Anemia, Abnormality of iron homeostasis |
ORPHA:75563 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Polycystic liver disease, Increased total bilirubin, Abnormality of the pancreas |
ORPHA:2924 |
Donohue Syndrome |
|
Severe failure to thrive, Hepatic fibrosis, Pancreatic islet-cell hyperplasia, Cholestasis |
OMIM:246200 |
Aicardi-Goutieres Syndrome 3 |
|
Elevated hepatic transaminase, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:614082 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... |
OMIM:619463 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:164180 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites, Increased total bilirubin |
ORPHA:890 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Increased circulating ferritin conc... |
OMIM:604250 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Thrombocytopenia, Optic atrophy, Hyperammonemia, Leukopenia, Pan... |
ORPHA:27 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... |
ORPHA:846 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis |
OMIM:610688 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ... |
OMIM:616050 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenit... |
ORPHA:731 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomegaly, Microvesicular hepat... |
OMIM:618278 |
Coproporphyria, Hereditary |
|
Splenomegaly, Hepatomegaly, Jaundice |
OMIM:121300 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Cirrhosis, Hepatic ... |
OMIM:613489 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hepatomegaly, Hemolytic anemia, Thrombocytopenia |
OMIM:615010 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Hepatomegaly, Cholestasis |
OMIM:105200 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... |
ORPHA:456312 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Rocker bottom foot, Anisocytosis, Camptodactyly |
OMIM:604273 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts |
OMIM:612284 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... |
ORPHA:848 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Lymphadenopathy, Decr... |
OMIM:618495 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... |
OMIM:194380 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Reticulocyt... |
ORPHA:14 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Weight loss, Neoplasm, Bone marrow hypocel... |
ORPHA:391 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... |
OMIM:619130 |
Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Clinodactyly of the 5th toe, Splenomegaly, Jaundice, Leukopenia, ... |
ORPHA:108 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Throm... |
ORPHA:905 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia |
OMIM:231000 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Hepatomegaly |
ORPHA:2204 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-homocystein... |
OMIM:614300 |
Ghosal Hematodiaphyseal Dysplasia |
|
Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abnormal femur morphology, Abn... |
ORPHA:1802 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Increased circulating fe... |
OMIM:235200 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro... |
OMIM:557000 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Ascites, Polycystic liver disease, Increased total bilirubin |
OMIM:174050 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Gaucher Disease Type 2 |
|
Splenomegaly, Hepatomegaly |
ORPHA:77260 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Gray Platelet Syndrome |
|
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia, Abnormality of the menstrual cycle |
ORPHA:721 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
ORPHA:85414 |
Farber Disease |
|
Elevated hepatic transaminase, Failure to thrive, Intrahepatic cholestasis with episodic jaundice... |
ORPHA:333 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis |
OMIM:612126 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Diabetes mellitus, Megaloblastic anemia, Optic atrophy, Neutropenia, Diabet... |
OMIM:598500 |
Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia, B-cell lymphoma |
OMIM:619437 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
Nephronophthisis 3 |
|
Hepatic fibrosis |
OMIM:604387 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia |
OMIM:613885 |
Immunodeficiency 54 |
|
Hepatomegaly, Failure to thrive, Lymphoproliferative disorder, Splenomegaly, Lymphadenopathy, Red... |
OMIM:609981 |
Systemic Lupus Erythematosus 17 |
|
Autoimmune thrombocytopenia, Leukopenia, Optic neuritis, Lymphopenia, Thrombocytopenia |
OMIM:301080 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... |
OMIM:613280 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hepatic failure, Hyperammonemia |
ORPHA:664 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Horizontal ribs, Cryptorchidism, Hyperhomocystinemia, ... |
OMIM:614857 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Hodgkin lymphoma, ... |
OMIM:620282 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Nephronophthisis 11 |
|
Hepatic fibrosis, Anemia |
OMIM:613550 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Enlarged kidney |
OMIM:200995 |
Gilbert Syndrome |
|
Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia |
OMIM:143500 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Hepatomegaly, Splenomegaly, Jaundice, Anemia, Type I diabete... |
ORPHA:290 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Decreased circulating T4 concentration, Cryptorchidism, Elevated circulating creati... |
OMIM:608104 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Lymphadenopathy, Hemophagocyt... |
ORPHA:79477 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Hypoalbuminemia, Hypocholesterolem... |
OMIM:212065 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Hydrocele testis, Radioulnar synostosis, Short middle phalanx of the 4th finger, Neutrope... |
OMIM:616738 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Splenomegaly, Hepatomegaly |
OMIM:608540 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the... |
ORPHA:2584 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, In... |
ORPHA:210136 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Adducted thumb, Decreased testicular size, Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Failure to thrive, Exocrin... |
OMIM:612714 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Sideroblastic anemia, Diabetes mellitus, Thiamine-responsive megaloblast... |
OMIM:249270 |
Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphoma, Lymphadenopathy, B lymphocytopenia, ... |
ORPHA:397596 |
Bleeding Disorder, Platelet-Type, 19 |
|
Menorrhagia, Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... |
OMIM:301068 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... |
ORPHA:86839 |
B4Galt1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... |
ORPHA:79332 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... |
OMIM:205400 |
Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro... |
OMIM:610333 |
Axial Osteomalacia |
|
Polycystic liver disease, Elevated circulating creatine kinase concentration |
OMIM:109130 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Hepati... |
OMIM:277900 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Hepatic fibrosis, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:224230 |
Preeclampsia |
|
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Polycystic ovaries,... |
ORPHA:275555 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Overlapping toe, Hypospadias, Increased mean platelet volume, Proximal placement of thumb, Tapere... |
ORPHA:487796 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Hypercalcemia, Abnormal vagina morphology, Anemia, Ascites, Thrombocytopenia |
ORPHA:2123 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Ascites, Hepatic failure, Anemia |
ORPHA:75233 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... |
ORPHA:3226 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm |
OMIM:240500 |
Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Short long bone, Stillbirth, Camptodactyly, Neonatal death, Thrombocyto... |
OMIM:619751 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma... |
OMIM:615122 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Elevated circul... |
OMIM:619644 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Optic disc pallor, Reticulocytosis, Splenomegaly, Optic atrophy, Anemia, Thrombocyt... |
OMIM:611490 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto... |
OMIM:300853 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Anemia |
ORPHA:37748 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Idiopathic Congenital Hypothyroidism |
|
Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-stimulating hormon... |
ORPHA:95717 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Hematological neoplasm, Splenomegaly, Lymphadenopathy, Increased proportion of CD25... |
ORPHA:98848 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increa... |
ORPHA:540 |
Intermediate Osteopetrosis |
|
Thrombocytopenia, Hepatosplenomegaly, Hypocalcemia, Optic atrophy from cranial nerve compression,... |
ORPHA:210110 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
Lipoyltransferase 1 Deficiency |
|
Elevated hepatic transaminase, Hyperglutaminemia, Hyperprolinemia, Decreased liver function, Incr... |
OMIM:616299 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis |
OMIM:263210 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormal circulating lipid concentration, Abnormality of neutrophils, Splenomegaly,... |
ORPHA:381 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Retinopathy, Thr... |
ORPHA:158029 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Anterior rib c... |
OMIM:260400 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Congenital hepatic fibrosis, Sp... |
ORPHA:1454 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Decreased response to growth hormone stimulation test, Proximal placement of th... |
OMIM:618624 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Conjugated hyperbilirubinemia, Early ossification of capital femoral epiphyses, Hepatic fibrosis,... |
OMIM:208500 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, In... |
ORPHA:158048 |
Mcleod Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:300842 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Menorrhagia, Thrombocytopenia |
OMIM:124900 |
Mevalonic Aciduria |
|
Elevated hepatic transaminase, Optic disc pallor, Normocytic hypoplastic anemia, Elevated circula... |
OMIM:610377 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:608799 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:603909 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase c... |
OMIM:614576 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
OMIM:611762 |
Adams-Oliver Syndrome |
|
Failure to thrive, Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrhosis, Ascit... |
ORPHA:974 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... |
ORPHA:2137 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Go... |
ORPHA:95716 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Failure to thrive, Hepatic steatosis, Exocri... |
OMIM:616263 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of neutrophils, Cl... |
ORPHA:229717 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90037 |
Immunodeficiency 76 |
|
B-cell lymphoma, Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Metaphyseal widening, Optic atrophy, Clubbing, Leuk... |
OMIM:617303 |
Farber Lipogranulomatosis |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Lipogranulomatosis |
OMIM:228000 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Ascites, Anemia |
ORPHA:295 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... |
OMIM:613070 |
Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
Mirage Syndrome |
|
Hyponatremia, Hypospadias, Rocker bottom foot, Adrenal hypoplasia, Hypergonadotropic hypogonadism... |
OMIM:617053 |
Lymphangiectasia, Intestinal |
|
Stillbirth, Intestinal lymphangiectasia, Lymphopenia, Prominent floating ribs, Neonatal hypoprote... |
OMIM:152800 |
Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Cirrhosis, Hyp... |
ORPHA:263501 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Elevated ... |
ORPHA:829 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... |
ORPHA:824 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Ascites, Hepatic fibrosis |
OMIM:614091 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Lymphadenopathy, ... |
OMIM:618048 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Adrenal hypoplasia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone ma... |
OMIM:619151 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Menorrhagia, Imp... |
ORPHA:274 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal circulating porphyrin con... |
ORPHA:79277 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:617388 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C... |
ORPHA:54251 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:618398 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hip contracture, Osteolysis involving bones of the upper limbs, Retinal hemorrhage, Osteolysis in... |
ORPHA:464321 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619232 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Retinal dystrophy, Megaloblastic anemia, Optic atrophy, Thrombocytopenia |
ORPHA:49827 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hepatomegaly, Anemia |
OMIM:618107 |
Kimura Disease |
|
Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Congenital hepatic fibrosis |
ORPHA:2031 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Femur fracture, Splenomegaly, Optic atrophy, Flared metaphysis, Coxa ... |
OMIM:259700 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Hepatomegaly, Abnormality of the tonsils |
ORPHA:93476 |
Stt3B-Cdg |
|
Small scrotum, Cryptorchidism, Optic atrophy, Micropenis, Thrombocytopenia |
ORPHA:370924 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thr... |
ORPHA:398124 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
Fanconi Anemia, Complementation Group V |
|
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... |
OMIM:617243 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Matthew-Wood Syndrome |
|
Anophthalmia, Microphthalmia, Abnormal spleen morphology |
ORPHA:2470 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... |
OMIM:243300 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Small scrotum, Cryptorchidism, Optic atrophy, Micropenis, Thrombocytopenia |
OMIM:615597 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Absent gallbladder, Hyperextensibility of the finger joints, Hypospadias, Rocker bottom... |
ORPHA:163979 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Splenomegaly, Hepatomegaly |
OMIM:615637 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
Rhabdoid Tumor |
|
Hypercalcemia, Lymphadenopathy, Anemia, Neoplasm of the liver, Thrombocytopenia |
ORPHA:69077 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg... |
ORPHA:98850 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Duplication of thumb phalanx, Thrombocytopenia, Short thumb... |
OMIM:616435 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, P... |
OMIM:251000 |
Hijazi-Reis Syndrome |
|
Iris coloboma, Hyperbilirubinemia |
OMIM:301094 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Conjugated hyperbilirubinemia, Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Elevat... |
OMIM:614866 |
Dk Phocomelia Syndrome |
|
Phocomelia, Thrombocytopenia |
OMIM:223340 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Jaundice, Lymphadenopathy, Chronic hepatitis, Hepatosplenomegaly, ... |
ORPHA:39812 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Diabetes insipidus, Megaloblastic anemia, Optic atrophy,... |
OMIM:222300 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, B... |
OMIM:257200 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long toe, Hepatomegaly, Elevated hepatic transaminase, Tapered toe, Elevated circulating creatine... |
OMIM:608836 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... |
ORPHA:811 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Fetal ascites, Thrombocytopenia, Leukocytosis, Hepatitis, Cholest... |
ORPHA:292 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Conjugated hyperb... |
ORPHA:95715 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Elevated circulating C-rea... |
ORPHA:1451 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Elevated circulating aspartate aminotransferase concentration, Bilateral cryptorchidism, Intrahep... |
OMIM:619685 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo... |
OMIM:617780 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Elevated circulating creatine kinase co... |
OMIM:301056 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Sandal gap, Anemia, Neutropenia, Thrombocytopenia, Brachydac... |
OMIM:617475 |
Free Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Ascites, Failure to thrive in infancy |
ORPHA:834 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Decreased mean p... |
OMIM:617718 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Lymphadenopathy,... |
OMIM:617591 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Erlenmeyer flas... |
OMIM:230800 |
Cold Agglutinin Disease |
|
Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy |
ORPHA:56425 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Biliary cirrhosi... |
OMIM:613471 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Stillbirth, Neonatal death, ... |
ORPHA:85212 |
Anophthalmia Plus Syndrome |
|
Anophthalmia |
ORPHA:1104 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Clinodactyly of the 5th finger, Lymphopenia, Hypoproteinemia, Chorioretinal coloboma |
ORPHA:1116 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Hyperalaninemia, Fail... |
OMIM:619046 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neutropenia, Pancreatitis, T... |
OMIM:606054 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Increased circ... |
ORPHA:465508 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... |
OMIM:613404 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia, Genital ulcers |
OMIM:616744 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
Myopathy With Extrapyramidal Signs |
|
Elevated hepatic transaminase, Hepatomegaly, Extremely elevated creatine kinase, Elevated circula... |
OMIM:615673 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
Trisomy 13 |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia |
ORPHA:3378 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Splenomegaly, Hepatomegaly, Lymphopenia, Leukopenia |
OMIM:620210 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ... |
OMIM:617021 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality, Abnormality of ... |
ORPHA:234 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Thrombocytopeni... |
OMIM:214500 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Non-Involuting Congenital Hemangioma |
|
Hepatic hemangioma, Thrombocytopenia |
ORPHA:141179 |
Bardet-Biedl Syndrome 1 |
|
Biliary tract abnormality, Obesity, Truncal obesity, Abdominal obesity, Hepatic fibrosis, Left ve... |
OMIM:209900 |
Diaphanospondylodysostosis |
|
Nephroblastomatosis, Abnormal liver lobulation, Enlarged kidney |
OMIM:608022 |
Congenital Disorder Of Deglycosylation 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration... |
OMIM:615273 |
3-Methylglutaconic Aciduria Type 4 |
|
Decreased liver function, Thrombocytopenia |
ORPHA:67048 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron... |
OMIM:619991 |
Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
Immunodeficiency 46 |
|
Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... |
ORPHA:331206 |
Alg8-Cdg |
|
Hyponatremia, Elevated hepatic transaminase, Optic atrophy, Anemia, Camptodactyly, Ascites, Retin... |
ORPHA:79325 |
Tularemia |
|
Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopa... |
ORPHA:3392 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Rh-Null, Regulator Type |
|
Hemolytic anemia, Jaundice, Stomatocytosis, Unconjugated hyperbilirubinemia |
OMIM:268150 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Hepatomegaly, Anemia |
OMIM:620296 |
Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia, Hepat... |
ORPHA:167 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem... |
OMIM:608885 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Atelis Syndrome 1 |
|
Leukopenia, Thrombocytopenia, Hypothyroidism, Anemia |
OMIM:620184 |
Sézary Syndrome |
|
Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the... |
ORPHA:3162 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Optic atrophy, Diaphyseal sclerosis, Hepatosplenomega... |
OMIM:259710 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:618116 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic... |
OMIM:617052 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Neutropenia, Clinodactyly, Decreased platelet glycoprotein Ib, Thrombocyto... |
OMIM:603585 |
Fumarase Deficiency |
|
Intrahepatic cholestasis, Mitochondrial swelling, Optic atrophy, Hyperbilirubinemia, Hepatic fail... |
OMIM:606812 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
Rapidly Involuting Congenital Hemangioma |
|
Hepatic hemangioma, Thrombocytopenia |
ORPHA:141184 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... |
OMIM:602450 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... |
OMIM:617049 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Elevated circulating long chain fatty acid concentration, Hyperbil... |
OMIM:614886 |
Orotic Aciduria |
|
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... |
OMIM:258900 |
Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Hermansky-Pudlak Syndrome 9 |
|
Abnormal platelet aggregation, Ocular albinism, Leukopenia, Hypopigmentation of the fundus, Throm... |
OMIM:614171 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neut... |
OMIM:251110 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis |
OMIM:130600 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Abnormality of the lymphatic s... |
ORPHA:47 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Normocytic anemia, Nodular regenerative hyperplasia of liver, Abnormal ... |
ORPHA:247691 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:33577 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... |
ORPHA:529799 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Diabetes mellitus, Increased blood urea nitrogen, Anemia, Leukopenia,... |
OMIM:613845 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Hydrolethalus |
|
Microphthalmia, Anophthalmia |
ORPHA:2189 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, T... |
OMIM:620005 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:614887 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype... |
ORPHA:79124 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Bone marrow hypocellularit... |
ORPHA:88 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Congenital Pulmonary Lymphangiectasia |
|
Splenomegaly, Hepatomegaly, Ascites |
ORPHA:2414 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
Bleeding Disorder, Platelet-Type, 20 |
|
Menorrhagia, Thrombocytopenia |
OMIM:616913 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Von Willebrand Disease, Type 2 |
|
Menorrhagia, Thrombocytopenia |
OMIM:613554 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis |
OMIM:605479 |
Cerebrooculonasal Syndrome |
|
Anophthalmia |
ORPHA:66625 |
Bachmann-Bupp Syndrome |
|
Clinodactyly of the 5th finger, Cryptorchidism, Hyperbilirubinemia |
OMIM:619075 |
Meckel Syndrome 14 |
|
Hepatic fibrosis |
OMIM:619879 |
Schimke Immuno-Osseous Dysplasia |
|
Wide capital femoral epiphyses, Abnormality of thyroid physiology, Abnormal femoral head morpholo... |
ORPHA:1830 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... |
ORPHA:562639 |
Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
Dengue Fever |
|
Hepatomegaly, Leukopenia, Ascites, Hypoproteinemia, Thrombocytopenia |
ORPHA:99828 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Elevated circulating C-reactive protein... |
OMIM:612852 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Peritonitis, Elevated circulating cr... |
ORPHA:90038 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymphadenopathy, Coombs-p... |
OMIM:304790 |
Caspase 8 Deficiency |
|
Splenomegaly, Failure to thrive, Decreased CD4:CD8 ratio, Lymphadenopathy |
OMIM:607271 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypertyrosinemia, Failure to ... |
OMIM:276700 |
Omenn Syndrome |
|
Hepatomegaly, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopa... |
ORPHA:39041 |
Overlap Myositis |
|
Elevated hepatic transaminase, Subluxation of the small joints of the hand, Diabetes mellitus, El... |
ORPHA:206572 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropenia, Monocytopeni... |
OMIM:614172 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Microvesicular he... |
OMIM:617156 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90036 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Abnormality of the pancreas, Jaundice, Abnormal pineal melatonin s... |
ORPHA:69665 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Megaloblastic anemia, Hyperhomocystinemia, An... |
OMIM:277380 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti... |
ORPHA:2686 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Papilledema, Elevated circulating creatine kinase concentration, Normochromic anemia, Cholelithia... |
OMIM:618775 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Anemia, Hypopl... |
OMIM:185070 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Cachexia, Splenomegaly, Hamartomatous polyposis, Neoplasm, Anemia |
ORPHA:2930 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th... |
OMIM:613839 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:77298 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Syndactyly, Cholangitis, Splenomegaly, Postaxial han... |
OMIM:613610 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Lymphadenitis, Leukocytosis, Increased circulating ferritin concentration, Congenit... |
OMIM:618886 |
Joubert Syndrome 1 |
|
Hepatic fibrosis |
OMIM:213300 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Thyrocerebrorenal Syndrome |
|
Euthyroid goiter, Thrombocytopenia |
ORPHA:3327 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, L... |
ORPHA:470 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Cirrhosis,... |
ORPHA:77259 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Decreased circulating T4 concent... |
ORPHA:90674 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Cirrhosis, Hepatic steatosis, Pa... |
ORPHA:79083 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Splenomegaly, Impaired ADP-induced platelet aggrega... |
OMIM:608233 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation |
OMIM:618042 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, Cholestasis, Hepatosple... |
OMIM:266920 |
Thrombocytopenia, Paris-Trousseau Type |
|
Clinodactyly, Radial deviation of finger, Thrombocytopenia |
OMIM:188025 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis |
OMIM:247800 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocytopenia |
OMIM:613987 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop... |
OMIM:612541 |
Avian Influenza |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... |
ORPHA:454836 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Conjugated hyperbilirubinemia, Jaundice, Hepatosplenomegaly, Stomat... |
ORPHA:168577 |
Felty Syndrome |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Neutr... |
ORPHA:47612 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Anterior rib cupping, Metaphyseal widening, Genu varum, Steatorr... |
OMIM:617941 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Hypophosphatemia, Failure to thrive, Anemia |
OMIM:239200 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne... |
ORPHA:699 |
Arima Syndrome |
|
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic steatosis, Anemia |
OMIM:243910 |
Isovaleric Acidemia |
|
Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:243500 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Hypertyrosinemia, Cholangitis, Microvesicular hepatic steatosis, C... |
OMIM:124000 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Thrombocytopenia, Hydrocele testis, Slender long bone, Increased serum testosterone level, Rod-co... |
ORPHA:96181 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... |
OMIM:308230 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Cachexia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia, Hepatosplenome... |
ORPHA:2072 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Microvesicula... |
OMIM:619418 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
Aredyld Syndrome |
|
Splenomegaly, Hepatomegaly, Refractory anemia with ringed sideroblasts, Cachexia |
ORPHA:1133 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Splenomegaly, Hepatomegaly, Decreased serum zinc, Failure to thrive |
OMIM:201100 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal pelvis bone morphology, Metrorrhagia, Abnormal humerus morp... |
ORPHA:464329 |
Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites |
OMIM:256550 |
Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the liver |
ORPHA:91138 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hypocalcemia, Hepatic f... |
OMIM:218330 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neut... |
OMIM:251100 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc... |
OMIM:619846 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombo... |
ORPHA:1572 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto... |
OMIM:614700 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyp... |
OMIM:615710 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Elevated circulating acylcarnitine concentr... |
ORPHA:99901 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Hepatic fibrosis, Hamartoma of tongue |
OMIM:263520 |
Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Thrombocytopenia, Cryptorchidism, Type I diabetes mellitus, Lymphopenia, Anemia |
OMIM:620365 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:252920 |
Yellow Fever |
|
Acute pancreatitis, Neutrophilia, Elevated circulating creatine kinase concentration, Elevated ci... |
ORPHA:99829 |
Prolidase Deficiency |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Thromb... |
OMIM:170100 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Thyroid hypoplasia, Increased circulating thyroglobulin level, Goiter, Delayed proximal femoral e... |
ORPHA:90673 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Clinodactyly of the 5th finger, Clinodactyly, Hypogonadism, Neonatal hyperbilirubinemia |
ORPHA:73272 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Majeed Syndrome |
|
Hepatomegaly, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic mi... |
ORPHA:77297 |
Alg12-Cdg |
|
Hyponatremia, Retinal detachment, Decreased serum insulin-like growth factor 1, Elevated hepatic ... |
ORPHA:79324 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Diaphyseal dysplasia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:231095 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... |
OMIM:618986 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypouricemia, Elevated circulating aspartate aminotransferase concentration, Intrah... |
OMIM:227810 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased serum insu... |
ORPHA:77293 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:616433 |
Polycythemia Vera |
|
Hepatomegaly, Portal hypertension, Myelodysplasia, Portal vein thrombosis, Splenomegaly, Acute le... |
ORPHA:729 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Small for gestational age, Hypercalcemia, Splenomegaly, Hypocalcemia |
OMIM:618440 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Failure to thrive, Hypouricemia, Increased circulating guanosine con... |
OMIM:613179 |
Boutonneuse Fever |
|
Elevated hepatic transaminase, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Thrombocyto... |
ORPHA:83313 |
Mosaic Trisomy 9 |
|
Asplenia, Abnormal liver lobulation |
ORPHA:99776 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormone concentr... |
OMIM:242900 |
Cockayne Syndrome Type 2 |
|
Anophthalmia |
ORPHA:90322 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Pancytopenia, Aplastic anemia, Avascular necrosis of the capital femoral epiphysis, Cryptorchidis... |
OMIM:613990 |
Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Leukocy... |
OMIM:603903 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Hamartoma of tongue, Splenomegaly, Periportal fibrosis, Ascites |
OMIM:269860 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Sengers Syndrome |
|
Premature ovarian insufficiency, Thrombocytopenia |
OMIM:212350 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypoalbuminemia, Intrahepatic bile duct dilatati... |
OMIM:619534 |
Moyamoya Disease 6 With Or Without Achalasia |
|
Impotence, Thrombocytopenia |
OMIM:615750 |
Sepsis In Premature Infants |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... |
ORPHA:90051 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Retinal atrophy, Abnormal retinal morphology, Elevated circulating cr... |
ORPHA:2785 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Metrorrhagia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Neutrope... |
ORPHA:520 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Puberty and gonadal disorders, Splenomegaly, Jaundic... |
ORPHA:525731 |
Acquired Purpura Fulminans |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hepatic failure |
ORPHA:49566 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic steatosis, Pancreatitis |
ORPHA:2348 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... |
OMIM:232300 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Absent thumb, Short thumb,... |
OMIM:147750 |
Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Diabetes mellitus, Abnormal testis morphology, Polycystic ovaries,... |
ORPHA:100 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Thrombocytopenia, Leukopenia |
OMIM:152700 |
Ogden Syndrome |
|
Congenital hip dislocation, Sandal gap, Broad hallux, Maternal diabetes, Cardiomegaly, Metatarsus... |
OMIM:300855 |
Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Orofaciodigital Syndrome I |
|
Hamartoma of tongue, Pancreatic cysts, Hepatic fibrosis, Hypothalamic hamartoma, Hepatic cysts |
OMIM:311200 |
Walker-Warburg Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:899 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Cryptorch... |
OMIM:600901 |
Trisomy 1Q |
|
Anophthalmia |
ORPHA:261344 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Splenomegaly, Hepatomegaly |
OMIM:618541 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Syndactyly, Radial bowing, Apl... |
OMIM:605432 |
Degcags Syndrome |
|
Hepatomegaly, Pancytopenia, Syndactyly, Toe syndactyly, Hypospadias, Congenital hypoplastic anemi... |
OMIM:619488 |
Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Decreased liver function, Fa... |
OMIM:251290 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Shor... |
OMIM:227650 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni... |
OMIM:277400 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia |
OMIM:612952 |
Reni Syndrome |
|
Hypertriglyceridemia, Cryptorchidism, Hypoalbuminemia, Adrenal insufficiency, Hypogonadism, Micro... |
OMIM:617575 |
Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia |
ORPHA:90060 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
Elliptocytosis 1 |
|
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis |
OMIM:611804 |
Thyrocerebroretinal Syndrome |
|
Thrombocytopenia, Goiter |
OMIM:274240 |
Ivic Syndrome |
|
Aplastic clavicle, Preaxial hand polydactyly, Leukocytosis, Hypoplasia of the radius, Short thumb... |
ORPHA:2307 |
Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... |
OMIM:139090 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Short foot, Brachydactyly, Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine concentration, Increas... |
OMIM:274150 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Macular coloboma, Megaloblastic anemia, Thrombocytopen... |
ORPHA:79282 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia, Goiter |
ORPHA:83601 |
Braddock-Carey Syndrome 2 |
|
Clinodactyly, Thrombocytopenia |
OMIM:619981 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... |
OMIM:616100 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
OMIM:613327 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Pancytopenia, Small scrotum, Portal hypertension, Cholestasis, Bil... |
OMIM:613658 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Intraalv... |
OMIM:222700 |
Brucellosis |
|
Hepatomegaly, Liver abscess, Lung abscess, Elevated circulating C-reactive protein concentration,... |
ORPHA:1304 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia |
OMIM:614520 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Rod-cone dystrophy, Optic atrophy, Thrombocytopenia |
OMIM:617710 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... |
ORPHA:93323 |
Microphthalmia, Syndromic 9 |
|
Hypoplastic spleen, Anophthalmia, Bilateral microphthalmos, Multilobulated spleen |
OMIM:601186 |
Mogs-Cdg |
|
Hepatomegaly, External genital hypoplasia, Inappropriate antidiuretic hormone secretion, Cardiome... |
ORPHA:79330 |
Mucopolysaccharidosis, Type Iiia |
|
Splenomegaly, Hepatomegaly |
OMIM:252900 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Lymphopenia |
OMIM:605309 |
Distal Xq28 Microduplication Syndrome |
|
Metatarsus adductus, Clinodactyly, Hypothyroidism, Neonatal hyperbilirubinemia |
ORPHA:293939 |
Sarcoidosis, Susceptibility To, 2 |
|
Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy |
OMIM:612387 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim... |
OMIM:619573 |
Lig4 Syndrome |
|
Pancytopenia, Cryptorchidism, Acute lymphoblastic leukemia, Type II diabetes mellitus, Clinodacty... |
OMIM:606593 |
Sarcoidosis |
|
Hepatomegaly, Hemolytic anemia, Hypercalcemia, Portal hypertension, Eosinophilia, Thrombocytopeni... |
ORPHA:797 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Neoplasm, Thrombocytopenia |
ORPHA:169090 |
Necrotizing Enterocolitis |
|
Hyponatremia, Peritonitis, Leukocytosis, Neutropenia, Ascites, Thrombocytopenia |
ORPHA:391673 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymp... |
OMIM:235255 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperuricemia, Hyperalaninemia, Hepatic steatosis, N... |
ORPHA:348 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Hyperbilirubinemia... |
ORPHA:521219 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Overlapping toe, Hypospadias, Cryptorchidism, Clubbing of ... |
ORPHA:163956 |
Castleman Disease |
|
Generalized lymphadenopathy, Abdominal mass, Elevated circulating C-reactive protein concentratio... |
ORPHA:160 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short humerus, Short metacarpal, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopen... |
ORPHA:508542 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ... |
ORPHA:277 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy, Elevated circulating creatine kinase concentration |
OMIM:313200 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
Hermansky-Pudlak Syndrome 5 |
|
Hypoplasia of the fovea, Absent platelet dense granules, Metrorrhagia, Impaired ADP-induced plate... |
OMIM:614074 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Peritoneal effusion, Abnormal lymphatic vessel morphology, Ascites, Hypoalbumine... |
ORPHA:90362 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec... |
OMIM:618935 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Hypoplasia of penis, Retinal dystrophy, Hypogonadotropic hypogonadism, Splenome... |
ORPHA:251066 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, Chronic lympha... |
ORPHA:90033 |
Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p... |
OMIM:274000 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Copper accumulation in liver, Anemia, Elevated hepatic iron concentration, Increased hepatic glyc... |
OMIM:614946 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Portal hypertension, Elevated circulat... |
OMIM:615688 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612926 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Cryptorch... |
OMIM:227645 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly... |
OMIM:257220 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Absent thumb, Short thumb, Cryptorchidism,... |
OMIM:603467 |
Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Splenomegaly, Hypersplenism, Cavernous hemangioma, Right ventricular hype... |
OMIM:616028 |
Johanson-Blizzard Syndrome |
|
Hepatomegaly, Failure to thrive, Small for gestational age, Elevated circulating aspartate aminot... |
OMIM:243800 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia |
OMIM:207731 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Hypomagnesemia, Hyp... |
OMIM:619743 |
Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Thin ribs, Ascites, Thrombocytopenia |
OMIM:617397 |
Snakebite Envenomation |
|
Hyponatremia, Hypopituitarism, Thrombocytopenia |
ORPHA:449285 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymphangiectasia, Hepatospleno... |
ORPHA:1655 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... |
OMIM:601399 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Smith-Kingsmore Syndrome |
|
Short proximal phalanx of finger, Cryptorchidism, Thrombocytopenia, Short distal phalanx of finger |
OMIM:616638 |
Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia |
OMIM:618165 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, N... |
OMIM:232220 |
Meckel Syndrome |
|
Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C... |
ORPHA:564 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati... |
ORPHA:90041 |
Tangier Disease |
|
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Thrombocy... |
ORPHA:31150 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean corpuscular volum... |
OMIM:127550 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Hepatomegaly, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hype... |
ORPHA:3008 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:608779 |
Immunodeficiency 22 |
|
Abscess, Retinal vasculitis, Anemia, Decreased proportion of CD4-positive helper T cells, Ascites... |
OMIM:615758 |
Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Optic disc hypoplasia, Hypergonadotropic hypogonadism, Absent thumb, Bilateral r... |
OMIM:300514 |
Scheie Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:93474 |
American Trypanosomiasis |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:3386 |
Kennedy Disease |
|
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ... |
ORPHA:481 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V... |
ORPHA:565612 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Preaxial ... |
OMIM:227646 |
Bacterial Toxic-Shock Syndrome |
|
Abscess, Elevated circulating creatine kinase concentration, Peritonitis, Elevated circulating cr... |
ORPHA:36234 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
Aicardi-Goutieres Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes insipidus, Splenomegaly, Prolonged neonatal... |
OMIM:225750 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... |
OMIM:102700 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Braddock-Carey Syndrome 1 |
|
Clinodactyly, Small hand, Thrombocytopenia, Camptodactyly |
OMIM:619980 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Thrombocytopenia |
OMIM:616577 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy |
ORPHA:379 |
Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Sandal gap, Tapered finger, Erythroid hypoplasia, Short toe, Preaxial hand polydac... |
OMIM:620072 |
Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Thrombocytopenia |
ORPHA:79242 |
Essential Thrombocythemia |
|
Splenomegaly, Myelodysplasia, Abnormal platelet morphology, Acute leukemia |
ORPHA:3318 |
16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Proximal placement of thumb, Cryptorchidism, Hip dysplasia, Increased mea... |
ORPHA:261250 |
Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... |
OMIM:187900 |
Kikuchi-Fujimoto Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-... |
ORPHA:50918 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Jacobsen Syndrome |
|
Hypospadias, Missing ribs, Cryptorchidism, Optic atrophy, Clitoral hypoplasia, Macular hypoplasia... |
OMIM:147791 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Delayed epiphyseal ossification, Preaxial polydactyly, Femoral bowing, Micropenis, Short metacarp... |
OMIM:210710 |
Legionnaires Disease |
|
Hyponatremia, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Ly... |
ORPHA:549 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Hepatic failure, ... |
OMIM:608013 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Thrombocytopenia, Optic atrophy, Hepatosplenomegaly, Leukope... |
ORPHA:505248 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Thrombocytopenia |
ORPHA:3240 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:615877 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Aplasia of the thymus, Broad hallux, Iris coloboma, Optic disc coloboma, Congenita... |
OMIM:620186 |
Familial Mediterranean Fever |
|
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, ... |
OMIM:249100 |
Shigellosis |
|
Hyponatremia, Abscess, Leukocytosis, Peritonitis, Abnormal blood ion concentration, Cholestasis, ... |
ORPHA:810 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormal circulating lipid concentration, Enlarged polycystic ovaries, Abnormal... |
ORPHA:2298 |
Biotinidase Deficiency |
|
Splenomegaly, Hepatomegaly, Hyperammonemia |
OMIM:253260 |
Beemer-Ertbruggen Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Thrombocytopenia |
ORPHA:1237 |
Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Elevated circulating thyroid-stimulating hormone concent... |
OMIM:620185 |
Immunodeficiency 36 With Lymphoproliferation |
|
B-cell lymphoma, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion... |
OMIM:616005 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Paratracheal lymph... |
OMIM:615934 |
Whipple Disease |
|
Hyponatremia, Hepatomegaly, Cachexia, Splenomegaly, Mediastinal lymphadenopathy, Anemia |
ORPHA:3452 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Vexas Syndrome |
|
Macrocytic anemia, Elevated circulating C-reactive protein concentration, Thrombocytopenia |
OMIM:301054 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Short palm, Macrocytic anemia, Metaph... |
OMIM:250250 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T cell morpholog... |
ORPHA:760 |
Gm1-Gangliosidosis, Type Ii |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Sea-blue histiocytosis |
OMIM:230600 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Hypospadias, Pure red cell aplasia, Absent thumb, Erythroid hypoplasia, S... |
ORPHA:124 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Splenomegaly, Jaundice... |
OMIM:615512 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia |
ORPHA:319218 |
Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Neutrophilia, Generalized lymphadenopathy, Cholangitis, Eosinophil... |
ORPHA:3260 |
Pediatric Systemic Lupus Erythematosus |
|
Lymphopenia, Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Ascites, Thrombocyto... |
ORPHA:93552 |
Lathosterolosis |
|
Hepatomegaly, Hypoplasia of penis, Toe syndactyly, Intrahepatic cholestasis, Postaxial hand polyd... |
ORPHA:46059 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
Crimean-Congo Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Leukopenia, Cholecystitis, Hepatomegaly, Neut... |
ORPHA:99827 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... |
OMIM:613986 |
Cockayne Syndrome Type 1 |
|
Anophthalmia |
ORPHA:90321 |
Alg9-Cdg |
|
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Hepatic cysts |
ORPHA:79328 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, M... |
OMIM:256040 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Bowing of the long bones, Retinal telangiectasia, Metaphyseal sclerosis, Optic atrophy, Genu valg... |
OMIM:612199 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ... |
ORPHA:276 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Thrombocytopenia |
OMIM:611126 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Obesity, Cholesta... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Obesity, Cholesta... |
ORPHA:99228 |
Monosomy X |
|
Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Obesity, Cholesta... |
ORPHA:99226 |
Turner Syndrome |
|
Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Obesity, Cholesta... |
ORPHA:881 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Eosinophilia, Hepatitis, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Lympho... |
ORPHA:169160 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Elevated hepatic transaminase, Hypospadias, Iris coloboma, Abnormal abdomen morpho... |
OMIM:619475 |
Microphthalmia, Syndromic 3 |
|
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia |
OMIM:206900 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein concentration |
OMIM:614204 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Abnormality of neutrophils, Thrombocyt... |
ORPHA:1775 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proximal placement of thumb, Cryptorchidism, Optic disc coloboma, Optic atrophy, Hyp... |
OMIM:122470 |
3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, Hepatic steatosis, Thrombocytopenia, Neutropenia |
OMIM:616271 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis, Hepatospl... |
ORPHA:781 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, ... |
ORPHA:71493 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Familial Tumoral Calcinosis |
|
Splenomegaly, Hepatomegaly, Neoplasm of the skin |
ORPHA:53715 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Eosinophilia, Coxa valga, Narrow grea... |
OMIM:617425 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormality of the endocrine system, He... |
ORPHA:391487 |
Rift Valley Fever |
|
Elevated hepatic transaminase, Retinitis, Thrombocytopenia, Jaundice, Hepatitis, Retinal hemorrha... |
ORPHA:319251 |
Lujo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Leukocytosi... |
ORPHA:319213 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Elevated hepatic transaminase, Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexi... |
ORPHA:37042 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:90045 |
Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Reticulocytosis, Elevated circulating creatine kinase concentratio... |
ORPHA:99826 |
Autoimmune Lymphoproliferative Syndrome |
|
Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD... |
ORPHA:3261 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the pancreas, Juvenile gastrointestinal polyposis, Failure to thrive, Juvenile coloni... |
ORPHA:2929 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Syndactyly, Decreased serum testosterone concentration, ... |
OMIM:305400 |
Fanconi Anemia |
|
Abnormal femur morphology, Leukopenia, Abnormality of the liver, Abnormality of the uterus, Triph... |
ORPHA:84 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema... |
ORPHA:2330 |
Good Syndrome |
|
Abnormal leukocyte morphology, Diabetes mellitus, Mediastinal lymphadenopathy, Thrombocytopenia, ... |
ORPHA:169105 |
Vacterl With Hydrocephalus |
|
Microphthalmia, Anophthalmia |
ORPHA:3412 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Sea-blue histiocytos... |
OMIM:607625 |
Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
Staphylococcal Necrotizing Pneumonia |
|
Neutrophilia, Diabetes mellitus, Elevated circulating C-reactive protein concentration, Leukocyto... |
ORPHA:36238 |
Acute Radiation Syndrome |
|
Lymphopenia, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
Holoprosencephaly |
|
Microphthalmia, Abnormality of the spleen, Anophthalmia |
ORPHA:2162 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, ... |
ORPHA:94093 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hamartomatous polyposis, Juvenile gastrointestinal polyposis, Hepatic arteriovenous malformation,... |
OMIM:175050 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:1302 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:230900 |
Dubowitz Syndrome |
|
Hypoparathyroidism, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Sandal gap, Hypospadias, Abn... |
ORPHA:235 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
ORPHA:3322 |
Camurati-Engelmann Disease |
|
Hepatomegaly, Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal morphology of ul... |
ORPHA:1328 |
Pgm3-Cdg |
|
Hemolytic anemia, Brachydactyly, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnor... |
ORPHA:443811 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Hepatomegaly, Pancytopenia, Cardiomegaly |
OMIM:231005 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2250 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Aniridia, Anophthalmia |
ORPHA:1101 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated cir... |
OMIM:614643 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Remnants of the hyaloid vascular system, Retinal dystrophy, Posterior lenticonus, Chorioretinal c... |
ORPHA:231736 |
Quebec Platelet Disorder |
|
Menorrhagia, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Weig... |
ORPHA:29073 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia |
OMIM:609727 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Abnormality of the spleen, Anophthalmia |
ORPHA:2538 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Thrombocytopenia, Sple... |
OMIM:615846 |
Hermansky-Pudlak Syndrome 10 |
|
Splenomegaly, Hepatomegaly, Neutropenia |
OMIM:617050 |
Catastrophic Antiphospholipid Syndrome |
|
Retinal arterial occlusion, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, ... |
ORPHA:464343 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Premature ovarian insufficiency, Sandal... |
OMIM:251260 |
Recon Progeroid Syndrome |
|
Arachnodactyly, Proximal placement of thumb, Anemia, Long thumb, Thrombocytopenia |
OMIM:620370 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Bicarbonaturia, Hypophosphatemia, Hyperuri... |
OMIM:229600 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Multiple rib fractures, Femur fracture, Splenomegaly, Optic atrophy, Hypocalcemic s... |
OMIM:612301 |
Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protein concentration, Thrombocytopen... |
ORPHA:355 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating uroporphyrin concent... |
OMIM:263700 |
Joubert Syndrome 21 |
|
Splenomegaly, Anophthalmia |
OMIM:615636 |
Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
Von Willebrand Disease, Type 3 |
|
Menorrhagia, Impaired platelet aggregation, Thrombocytopenia |
OMIM:277480 |
Vici Syndrome |
|
Macular atrophy, Elevated circulating creatine kinase concentration, Decreased proportion of CD4-... |
OMIM:242840 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Short proximal phalanx of the 2nd finger, Cone-shaped e... |
ORPHA:261323 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath... |
OMIM:617099 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
Immunodeficiency 85 And Autoimmunity |
|
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... |
OMIM:619510 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Abnormality of the menstrual... |
ORPHA:906 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy, Hip dislocation, Hyperuricemia, Megaloblastic anemia |
OMIM:300322 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Hepatomegaly, Cryptorchidism, Increased femoral anteversion, ... |
OMIM:619005 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio... |
ORPHA:247353 |
Diamond-Blackfan Anemia 1 |
|
11 pairs of ribs, Macrocytic anemia, Congenital hypoplastic anemia, Absent thumb, Short thumb, Hy... |
OMIM:105650 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Leptospirosis |
|
Papilledema, Hepatomegaly, Jaundice, Retinal hemorrhage, Hepatitis, Lymphadenopathy, Chorioretini... |
ORPHA:509 |
Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Abnormality of the liver, Thrombocytopenia |
OMIM:112200 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Optic nerve hypoplasia |
OMIM:605627 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Hypospadias, Phimosis, Cryptorchidism, Optic atrophy, Anemi... |
OMIM:305000 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Diabetes mellitus, Female hypogonadism, Elevated circulating alpha-f... |
OMIM:208900 |
Noonan Syndrome 4 |
|
Cryptorchidism, Thrombocytopenia |
OMIM:610733 |
Hyper-Igd Syndrome |
|
Optic disc pallor, Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, L... |
OMIM:260920 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Bowing of the long bones, Sand... |
ORPHA:3103 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Holocarboxylase Synthetase Deficiency |
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Hyperammonemia, Thrombocytopenia |
OMIM:253270 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
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Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h... |
OMIM:269700 |
Ectodermal Dysplasia And Immunodeficiency 2 |
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Splenomegaly, Hepatomegaly, Failure to thrive |
OMIM:612132 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
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Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly, Testicular atrophy |
OMIM:601163 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomega... |
OMIM:608594 |
Spinocerebellar Ataxia Type 32 |
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Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Spinocerebellar Ataxia 32 |
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Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula... |
OMIM:218700 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
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Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytope... |
OMIM:616084 |
14Q22Q23 Microdeletion Syndrome |
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Optic nerve aplasia, Anophthalmia |
ORPHA:264200 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
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Hepatomegaly, Tapered finger, Splenomegaly, Micronodular cirrhosis, Hepatic failure, Ascites, Thr... |
OMIM:301072 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
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High nonceruloplasmin-bound serum copper, Thrombocytopenia |
ORPHA:457351 |
Reese Retinal Dysplasia |
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Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Immunodeficiency 31C |
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Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
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Contracture of the proximal interphalangeal joint of the 2nd finger, Thrombocytopenia, Hypoplasia... |
OMIM:612394 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
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Normochromic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:254900 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Metaphyseal dysplasia, Autoimmune thrombocytopenia, Short iliac bones, Metaphyseal sclerosis, Met... |
OMIM:607944 |
Jacobsen Syndrome |
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Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Missing ribs, Cryptorchidism, Short toe,... |
ORPHA:2308 |
Tick-Borne Encephalitis |
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Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Leukocytosi... |
ORPHA:297 |
Deeah Syndrome |
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Decreased hemoglobin concentration, Hepatomegaly, Decreased response to growth hormone stimulatio... |
OMIM:619004 |
Holoprosencephaly 9 |
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Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610829 |
Granulomatous Disease, Chronic, X-Linked |
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Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:306400 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyponatremia, Hyperparathyroidism, Hypoammonemia, Chorioretinal dysplasia, Thrombocytopenia, Cryp... |
ORPHA:534 |
Toxic Epidermal Necrolysis |
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Acute hepatic failure, Elevated hepatic transaminase, Anemia, Neutropenia, Abnormal vagina morpho... |
ORPHA:537 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2526 |
Primary Sjögren Syndrome |
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Normocytic anemia, Vaginal dryness, Chronic active hepatitis, Parotitis, Biliary cirrhosis, Thyro... |
ORPHA:289390 |
Fusariosis |
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Brain abscess, Lung abscess, Abnormal retinal morphology, Abnormality of the spleen, Peritonitis,... |
ORPHA:228119 |
Myotonic Dystrophy 1 |
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Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Gaucher Disease Type 3 |
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Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Delayed puberty, Thrombocytopenia |
ORPHA:77261 |
Neurooculorenal Syndrome |
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Decreased circulating cortisol level, Ectopic posterior pituitary, Short hallux, Conjugated hyper... |
OMIM:620305 |
Pmm2-Cdg |
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Elevated hepatic transaminase, Reduced thyroxin-binding globulin, Abnormal liver parenchyma morph... |
ORPHA:79318 |
Stevens-Johnson Syndrome |
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Acute hepatic failure, Dyspareunia, Elevated hepatic transaminase, Abnormality of neutrophils, Th... |
ORPHA:36426 |
Acute Generalized Exanthematous Pustulosis |
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Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenop... |
ORPHA:293173 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
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Rod-cone dystrophy, Thrombocytopenia |
ORPHA:572798 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
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Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c... |
OMIM:619767 |
Acromelic Frontonasal Dysostosis |
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Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Cryptorchidism, Prea... |
OMIM:603671 |
Sweet Syndrome |
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Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk... |
ORPHA:3243 |
Alport Syndrome 1, X-Linked |
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Hypoparathyroidism, Lenticonus, Thrombocytopenia, Anterior lenticonus |
OMIM:301050 |
Thrombocytopenia 6 |
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Thrombocytopenia |
OMIM:616937 |
Hellp Syndrome |
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Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... |
ORPHA:244242 |
22Q11.2 Deletion Syndrome |
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Hypoparathyroidism, Hyperthyroidism, Arachnodactyly, Abnormality of the tonsils, Abnormality of t... |
ORPHA:567 |
Fraser Syndrome 1 |
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Anophthalmia, Abnormal thymus morphology, Bilateral microphthalmos |
OMIM:219000 |
Immunodeficiency 82 With Systemic Inflammation |
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Decreased proportion of naive T cells, B-cell lymphoma, Elevated circulating C-reactive protein c... |
OMIM:619381 |
Autosomal Recessive Malignant Osteopetrosis |
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Hepatomegaly, Bowing of the long bones, Splenomegaly, Abnormal rib morphology, Lymphadenopathy, H... |
ORPHA:667 |
Beckwith-Wiedemann Syndrome |
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Hepatomegaly, Nephroblastoma, Elevated circulating alpha-fetoprotein concentration, Cardiomegaly,... |
ORPHA:116 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:619525 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
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Retinal neovascularization |
OMIM:619074 |
Kallmann Syndrome With Spastic Paraplegia |
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Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
Icf Syndrome |
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Anemia, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
Coloboma, Ocular, Autosomal Dominant |
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Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... |
OMIM:120200 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
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T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Microphthalmia With Linear Skin Defects Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2556 |
Infection-Related Hemolytic Uremic Syndrome |
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Hyponatremia, Hemolytic anemia, Brain abscess, Diabetes mellitus, Leukocytosis, Hyperkalemia, Hyp... |
ORPHA:544482 |
Secondary Intestinal Lymphangiectasia |
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Decreased prealbumin level, Reduced circulating transferrin concentration, Chylous ascites, Hypoa... |
ORPHA:90363 |
Systemic Lupus Erythematosus |
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Hemolytic anemia, Lymphadenopathy, Leukopenia, Retinopathy, Thrombocytopenia |
ORPHA:536 |
Alström Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Portal hypertension, Splenomeg... |
ORPHA:64 |
Pierson Syndrome |
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Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Posterior lentic... |
OMIM:609049 |
Proboscis Lateralis |
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Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
ORPHA:141099 |
Optic Nerve Hypoplasia, Bilateral |
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Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Charge Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:138 |
Hemorrhagic Fever-Renal Syndrome |
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Elevated hepatic transaminase, Leukocytosis, Elevated circulating creatinine concentration, Hyper... |
ORPHA:340 |
Igg4-Related Dacryoadenitis And Sialadenitis |
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Retroperitoneal fibrosis, Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Enlargement of ... |
ORPHA:79078 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... |
ORPHA:35078 |
Focal Dermal Hypoplasia |
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Aniridia, Microphthalmia, Anophthalmia |
OMIM:305600 |
Microphthalmia, Syndromic 2 |
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Microphthalmia, Anophthalmia |
OMIM:300166 |
Persistent Hyperplastic Primary Vitreous |
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Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Exercise-Induced Malignant Hyperthermia |
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Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... |
ORPHA:466650 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Abnormality of the pancreas, Long fibula, Abnormal metaphysis morphology, Lymphopenia, Anemia |
ORPHA:935 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
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Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
Digeorge Syndrome |
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Parathyroid agenesis, Decreased circulating parathyroid hormone level, Thrombocytopenia, Splenome... |
OMIM:188400 |
Microphthalmia With Limb Anomalies |
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Microphthalmia, True anophthalmia |
ORPHA:1106 |
Acute Liver Failure |
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Elevated hepatic transaminase, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular necrosis, Hy... |
ORPHA:90062 |
Oculo-Palato-Cerebral Syndrome |
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Short foot, Retinal detachment, Remnants of the hyaloid vascular system, Small hand |
ORPHA:2714 |
Osteogenesis Imperfecta |
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Multiple rib fractures, Bowing of the long bones, Protrusio acetabuli, Fractures of the long bone... |
ORPHA:666 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... |
OMIM:600802 |
Fraser Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2052 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Congenital hepatic fibrosis |
ORPHA:93271 |
Charge Syndrome |
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Microphthalmia, Anophthalmia, Unilateral microphthalmos, Aplasia/Hypoplasia of the thymus |
OMIM:214800 |
Immunodeficiency 55 |
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Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy |
OMIM:617827 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
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Anemia, Hepatic arteriovenous malformation, Polycythemia, Cirrhosis |
OMIM:600376 |
Pneumocystosis |
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Abnormal neutrophil count |
ORPHA:723 |
Congenital Disorder Of Glycosylation, Type Iim |
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Vesicovaginal fistula, Rod-cone dystrophy, Neonatal hyperbilirubinemia |
OMIM:300896 |
Branchiooculofacial Syndrome |
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Microphthalmia, Ectopic thymus tissue, Anophthalmia |
OMIM:113620 |
Cushing Disease |
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Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Nijmegen Breakage Syndrome |
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Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia |
ORPHA:647 |
Aicardi-Goutières Syndrome |
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Elevated hepatic transaminase, Diabetes mellitus, Neonatal alloimmune thrombocytopenia, Cardiomeg... |
ORPHA:51 |
Tropical Endomyocardial Fibrosis |
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Hepatomegaly, Eosinophilia, Cachexia, Cardiomegaly, Splenomegaly, Hypoalbuminemia, Ascites |
ORPHA:75565 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system, Retinal fold |
OMIM:221900 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
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Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
Microphthalmia, Syndromic 6 |
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Microphthalmia, Anophthalmia |
OMIM:607932 |
X-Linked Intellectual Disability, Snyder Type |
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Long toe, Arachnodactyly, Hypospadias, Cryptorchidism, Slender toe, Abnormality of the Leydig cel... |
ORPHA:3063 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
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Anemia, Hepatic arteriovenous malformation, Polycythemia, Cirrhosis |
OMIM:187300 |
Agammaglobulinemia, X-Linked |
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Lymph node hypoplasia |
OMIM:300755 |
Steinert Myotonic Dystrophy |
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Elevated hepatic transaminase, Endometrial carcinoma, Diabetes mellitus, Hypercholesterolemia, De... |
ORPHA:273 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
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Bifid sternum |
OMIM:140850 |
Oculopalatocerebral Syndrome |
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Remnants of the hyaloid vascular system |
OMIM:257910 |
Noonan Syndrome 1 |
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Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias... |
OMIM:163950 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Full Nf2-Related Schwannomatosis |
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Remnants of the hyaloid vascular system, Retinal hamartoma, Abnormal optic nerve morphology, Epir... |
ORPHA:637 |
Norrie Disease |
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Retinal detachment, Diabetes mellitus, Abnormal chorioretinal morphology, Remnants of the hyaloid... |
ORPHA:649 |
Neuroocular Syndrome |
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Hypoplasia of the fovea, Hyperextensibility of the finger joints, Prominent fingertip pads, Remna... |
OMIM:619539 |
Coffin-Lowry Syndrome |
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Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va... |
OMIM:303600 |
Craniorachischisis |
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Bifid sternum |
ORPHA:63260 |
Craniofacial Microsomia 1 |
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Microphthalmia, Anophthalmia |
OMIM:164210 |
Microphthalmia, Syndromic 1 |
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Microphthalmia, Anophthalmia |
OMIM:309800 |
Holoprosencephaly 2 |
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Remnants of the hyaloid vascular system, Adrenal hypoplasia, Chorioretinal coloboma, Cyclopia, Di... |
OMIM:157170 |