Dermatitis Herpetiformis, Familial |
|
Pruritus |
OMIM:601230 |
Pruritus, Hereditary Localized |
|
Pruritus |
OMIM:177100 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... |
OMIM:237800 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Cyanosis, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom... |
OMIM:616860 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Short stature, Anisocytosis, Anemia of inadequate production, Sple... |
OMIM:615631 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Pruri... |
OMIM:620010 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice |
OMIM:179700 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Immunodeficiency 69 |
|
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration... |
OMIM:618963 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Protoporphyria, Erythropoietic, 2 |
|
Iron deficiency anemia, Cutaneous photosensitivity, Increased erythrocyte protoporphyrin concentr... |
OMIM:618015 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Increased circulating lactate dehydrogenas... |
ORPHA:232 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Pruri... |
OMIM:619868 |
Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin con... |
OMIM:618892 |
Malaria |
|
Nausea and vomiting, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Gai... |
ORPHA:673 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Abdominal pain, Splenomegaly, Leukocytosis, Jaundice, Prolonged ne... |
OMIM:300908 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Reduced level of N-acetylglucosaminyltransferase... |
OMIM:224120 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
Atransferrinemia |
|
Abnormality of the liver, Atransferrinemia, Hypochromic anemia |
OMIM:209300 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc... |
OMIM:224100 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Skin rash, Splenomegaly, Jaundice, Increased circulating ferr... |
OMIM:603552 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Splenomegaly, Choreoathetosis, Reduced haptoglobin level |
OMIM:612126 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Dehydrated Hereditary Stomatocytosis |
|
Portal vein thrombosis, Polycythemia, Congenital hemolytic anemia, Abnormal blood potassium conce... |
ORPHA:3202 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Abnormal lactate dehydrogenase lev... |
ORPHA:67044 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hep... |
OMIM:604416 |
Glutathione Peroxidase Deficiency |
|
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia |
OMIM:614164 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Glutamate-Cysteine Ligase Deficiency |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Jaundice, Hepatosplenomegaly |
ORPHA:33574 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... |
OMIM:235700 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia... |
ORPHA:822 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Increased circulating lactate dehydrogenase concentrat... |
ORPHA:86841 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn... |
ORPHA:288 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Iron deficiency anemia, Increased erythrocyte protoporphyrin conce... |
OMIM:300752 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising susceptibility, HbH hemogl... |
ORPHA:231401 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
Autosomal Erythropoietic Protoporphyria |
|
Eczema, Microcytic anemia, Pruritus, Abnormal circulating porphyrin concentration, Erythema, Decr... |
ORPHA:79278 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... |
ORPHA:71275 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... |
OMIM:182900 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased m... |
ORPHA:98870 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Increased circulating lactate dehydrogenase concentration, Ele... |
OMIM:232800 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... |
OMIM:616649 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Elevat... |
OMIM:614034 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Skin rash, Anemia of inadequate production, Microcytic anem... |
OMIM:609628 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy... |
ORPHA:64743 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Diamond-Blackfan Anemia 13 |
|
Normocytic anemia |
OMIM:615909 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia, Fava bean-induced hemolytic anemia |
OMIM:618660 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Pruritus, Splenomegaly, Jaundice, ... |
OMIM:619658 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Increased circulating lactate dehydrogenase concentration, Eczem... |
OMIM:617780 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Petechiae, Reduced platelet ... |
OMIM:314050 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ... |
OMIM:209950 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Petechiae, Splenomegaly, Thrombocytopenia, Growth delay, Anemia |
OMIM:611490 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... |
OMIM:300751 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Pruritus, Elevated c... |
OMIM:619874 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge... |
ORPHA:824 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... |
OMIM:214900 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Abnormalit... |
ORPHA:848 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... |
OMIM:194380 |
Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Abdominal pain, Diarrhea, Abnormal lactate dehydrogenase level, Microangiopathic... |
ORPHA:54057 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Refractory Celiac Disease |
|
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Inflammatory abnormality of ... |
ORPHA:398063 |
Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat... |
ORPHA:158057 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Anorexia, Hepatosplenomegaly, Decreased mean corpuscular volum... |
OMIM:611590 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Lymphadenopathy, Anemia, Int... |
ORPHA:858 |
Rotor Syndrome |
|
Abnormal circulating enzyme concentration or activity, Pruritus, Conjugated hyperbilirubinemia, J... |
ORPHA:3111 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:601859 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Breath-Holding Spells |
|
Iron deficiency anemia, Cyanosis |
OMIM:607578 |
Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia |
OMIM:153550 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Short stature, Abnormality of thrombocytes, Splenomegaly, Jaundice, Cholestasis, Hy... |
ORPHA:172 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Short stature, Hypochromic m... |
OMIM:619423 |
Vascular Malformation, Primary Intraosseous |
|
Umbilical hernia, Elevated circulating alkaline phosphatase concentration, Hypochromic anemia |
OMIM:606893 |
Majeed Syndrome |
|
Hepatomegaly, Inflammatory abnormality of the skin, Acne, Congenital hypoplastic anemia, Pustule,... |
ORPHA:77297 |
Isolated Sedoheptulokinase Deficiency |
|
Short stature, Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Severe... |
ORPHA:440713 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis, Skin rash |
OMIM:618795 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Increased circulating lactate dehydrogenase concent... |
OMIM:210250 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Intestinal obstruction, Abdominal pain, Diarrhea, Decreased circulating antibody le... |
OMIM:226300 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Pruritus, Splenomegaly, Jaundice, Biliary tract abno... |
ORPHA:79301 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Short stature, Pruritus, Splenomegaly, Intrahepatic cholestasis, Conjugated hyperbi... |
OMIM:601847 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Reduced delayed ... |
OMIM:603909 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Anisocytosis, Flexion contracture, Camptodactyly, Poor suck |
OMIM:604273 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Decreased beta-galactosidase activity, Hypergalactosemia |
OMIM:230350 |
Megaloblastic Anemia, Folate-Responsive |
|
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... |
OMIM:601775 |
Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Short stature, Splenomegaly, Leukocytos... |
OMIM:259720 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Galactose Epimerase Deficiency |
|
Growth delay, Splenomegaly, Jaundice, Hepatomegaly |
ORPHA:79238 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... |
OMIM:278000 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Poor appetite, Hypoalbuminemia, Elevated gamma-glutamylt... |
ORPHA:247598 |
Wolman Disease |
|
Nausea and vomiting, Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Abdominal distention, Ma... |
ORPHA:75233 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Eleva... |
OMIM:611881 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Classic Galactosemia |
|
Vomiting, Lethargy, Male infertility, Hepatomegaly, Premature ovarian insufficiency, Ataxia, Cryp... |
ORPHA:79239 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Microcytic anemia, Elevated circulating alanine aminotransferase concentration, Hyp... |
OMIM:618805 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Short stature, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Hyperbilirubinemia |
ORPHA:713 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Skin rash, Anemia of inadequate production, Splenomegaly, Jaundice, Malnutrition, E... |
OMIM:612714 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ... |
ORPHA:905 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Pruritus, Splenomegaly, Jaundice, Intrahepatic chole... |
OMIM:602347 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Bradykinesia, Steppage gait, Decr... |
OMIM:613280 |
Babesiosis |
|
Nausea and vomiting, Hemolytic anemia, Hepatomegaly, Anorexia, Splenomegaly, Jaundice, Leukopenia... |
ORPHA:108 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Bone-... |
OMIM:257200 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Short stature, Bone-... |
OMIM:607616 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Thrombocytopenia, Abnormality of the liver, Intrauterine growth retardation, Subcut... |
ORPHA:1980 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Pruritus, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterol... |
ORPHA:75234 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Hyper... |
ORPHA:1667 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Splenomegaly, U... |
ORPHA:2585 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, C... |
OMIM:618278 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Colitis, Hypoalbuminemia, Neutropenia, Ecchymosis, Hepatomegaly, Maculopapular exanthema, Decreas... |
ORPHA:540 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Sideroblastic anemia, Hypochromic microcytic anemia |
OMIM:301310 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Choreoathetosis, Feeding difficulties, Hypochromic anemia, Microcytic anemia |
OMIM:618451 |
Pulmonary Hemosiderosis |
|
Iron deficiency anemia |
OMIM:178550 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Abdominal distention, Diarrhea, Cryptorchidism, Elevated circulating creatinine con... |
OMIM:608104 |
Crigler-Najjar Syndrome Type 1 |
|
Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n... |
ORPHA:79234 |
Phosphoglycerate Kinase 1 Deficiency |
|
Erythroid hyperplasia, Hemolytic anemia, Ataxia, Reticulocytosis |
OMIM:300653 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Relapsing Fever |
|
Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio... |
ORPHA:91547 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis, Bloody d... |
OMIM:619398 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Short stature, Microcytic anemia, Hepatosple... |
OMIM:619013 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Small intestinal dysmotility, Hypogonadotropic hypogonadism, Poor ... |
ORPHA:298 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Skin rash, Short stature, Splenomegaly, Jaundice, Anemia, Intrauterine growth retar... |
ORPHA:290 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi... |
OMIM:301045 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Jaundice, Feeding difficulties, Increas... |
OMIM:613839 |
Methemoglobinemia, Beta Type |
|
Cyanosis, Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis, Methemoglobinemia |
OMIM:617973 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Nausea and vomiting, Hepatomegaly, Macrocytic anemia, Ataxia, Hyperammonemia, Anemia, Leukopenia,... |
ORPHA:27 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Increased circulating ferritin conc... |
OMIM:600462 |
Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Increa... |
OMIM:261000 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa... |
ORPHA:2494 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... |
ORPHA:494444 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia... |
OMIM:267700 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Skin rash, Elevated hepat... |
OMIM:603553 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Elevated circulating glutaric acid concentration, Microvesicular h... |
ORPHA:66634 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Abdominal pain, Splenomegaly, Diarrhea, Jaundice, Constipation, Vomiting, Cutaneous... |
OMIM:121300 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Hypomethioninemia, Decreased methionine synthase activity, Megaloblastic anemia, Feeding difficul... |
OMIM:250940 |
Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, El... |
OMIM:235555 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal circulating enzyme concentration or activity, Ankle flexion contracture, A... |
ORPHA:100924 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Normocytic anemia, Hypomethioninemia, Methylmalonic acidemia, Decreased methionine synthase activ... |
OMIM:236270 |
Peripheral Primitive Neuroectodermal Tumor |
|
Nausea and vomiting, Neoplasm of the pancreas, Metrorrhagia, Elevated carcinoma antigen 125 level... |
ORPHA:370348 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia, Elevated leukocyte alkaline phosphatase |
OMIM:162830 |
Cholestasis-Lymphedema Syndrome |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Abdominal pa... |
ORPHA:1414 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Incre... |
OMIM:613313 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Atopic dermatitis, Hypochromic microcytic anemia, G... |
ORPHA:3240 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Short stature, Pruritus, Splenomeg... |
OMIM:211600 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Anorexia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypoch... |
ORPHA:514 |
Aceruloplasminemia |
|
Refractory anemia, Abnormal circulating enzyme concentration or activity, Decreased circulating c... |
ORPHA:48818 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Intrauterine growth retardation, Thromb... |
OMIM:615010 |
Cog7-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:79333 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia |
OMIM:606664 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Lymphadenopathy, Premature gr... |
ORPHA:79477 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Elevated circulating alpha-feto... |
OMIM:251880 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrah... |
OMIM:613812 |
Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Hepatomegaly, Abnormal peritoneum morphology, Neoplasm of the pancreas, Test... |
ORPHA:83469 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Macrocytic anemia, Ataxia, Eczema, Abdominal pain, Abdominal diste... |
OMIM:212750 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Pruritus, Splenomega... |
OMIM:619849 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality |
OMIM:237500 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine concentration, Prolong... |
OMIM:274150 |
Letterer-Siwe Disease |
|
Seborrheic dermatitis, Abdominal distention, Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, T... |
OMIM:246400 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Growth delay, ... |
OMIM:616084 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis |
OMIM:130600 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Plummer-Vinson Syndrome |
|
Poor appetite, Abdominal pain, Hypochromic microcytic anemia, Iron deficiency anemia, Dysphagia, ... |
ORPHA:54028 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abdominal pain, Feeding diff... |
ORPHA:2924 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Ataxia, Unsteady gait, Acute myelomonocytic leukemia, Dysmetria, Anemia, Neutropeni... |
OMIM:159550 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax... |
OMIM:613470 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Normochromic ane... |
OMIM:245900 |
Caroli Disease |
|
Liver abscess, Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Vomiting, Hepatic fibrosis, ... |
ORPHA:53035 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Skin rash, Cutis marmorata, Elevated circulating C-reactive protein concentration, Follicular hyp... |
OMIM:615934 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Poor appetite, Megaloblastic anemia, Anisopoiki... |
ORPHA:35858 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Hypochromic microcytic anemia, Growth delay, Hyperalaninemia, Anemia |
OMIM:619147 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
Cholangiocarcinoma |
|
Pruritus, Jaundice, Acholic stools, Biliary tract neoplasm |
ORPHA:70567 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:79235 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Macrocytic anemia, Ataxia, Feeding difficulties in infancy, Splenomegal... |
OMIM:619046 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormal circulating lipid concentration, Short stature, Abnormality of neutrophils... |
ORPHA:381 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... |
OMIM:616959 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Hepatomegaly, Diarrhea, Iron deficiency anemia, Gastroesophageal reflux, Nasogastric tube feeding |
OMIM:607906 |
Formiminoglutamic Aciduria |
|
Abnormal circulating histidine concentration, Abnormal circulating enzyme concentration or activi... |
ORPHA:51208 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Growth delay, Hypocalcemia, Ascites, Anemia |
ORPHA:100025 |
Immunodeficiency 92 |
|
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... |
OMIM:619652 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hypertriglyceridemia, Skin rash, Hepatomegaly |
OMIM:619175 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... |
OMIM:607765 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Ataxia, Conjugated hyperbilirubinemia, Splenomegaly, Inability to... |
OMIM:608885 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Dysphagia, Lethargy |
OMIM:613561 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Neuroendocrine Tumor Of Stomach |
|
Nausea and vomiting, Hepatomegaly, Elevated hepatic transaminase, Chronic noninfectious lymphaden... |
ORPHA:100075 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Short stature, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatosp... |
OMIM:619750 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Secretory diarrhea, Abnormal blood ion concentration, Iron deficiency anemia, Colitis, Vomiting, ... |
ORPHA:37042 |
Rh-Null, Regulator Type |
|
Hemolytic anemia, Jaundice, Stomatocytosis, Unconjugated hyperbilirubinemia |
OMIM:268150 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Pruritus, Splenomegaly, Jaundice, B... |
OMIM:617394 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Hypercholanemia, Familial, 2 |
|
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged neonatal jaun... |
OMIM:619256 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st... |
OMIM:615438 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Diarrhea, Schistocytosis, Elevated circulating creatinine concentration, Hyperli... |
OMIM:235400 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Scarring, Anisocytosis, I... |
ORPHA:79277 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:615234 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Edinburgh Malformation Syndrome |
|
Jaundice, Neonatal hyperbilirubinemia |
OMIM:129850 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... |
OMIM:605814 |
Castleman Disease |
|
Nausea and vomiting, Intestinal obstruction, Generalized lymphadenopathy, Abdominal mass, Elevate... |
ORPHA:160 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Ascites, Increased total bilirubin |
ORPHA:890 |
Immunodeficiency 104 |
|
Hepatomegaly, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy, T lymphoc... |
OMIM:608971 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Short stature, Growth delay, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pruritus, Conjugated hyperbilirubi... |
OMIM:243300 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, H... |
OMIM:614480 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
OMIM:610539 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Abdominal distention, Diarrh... |
ORPHA:71 |
Glutamate Formiminotransferase Deficiency |
|
Hypersegmentation of neutrophil nuclei, Positive ferric chloride test, Megaloblastic anemia |
OMIM:229100 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro... |
OMIM:557000 |
Sepsis In Premature Infants |
|
Hepatomegaly, Cyanosis, Petechiae, Elevated circulating C-reactive protein concentration, Splenom... |
ORPHA:90051 |
3-Methylglutaconic Aciduria, Type V |
|
Elevated circulating aspartate aminotransferase concentration, Postnatal growth retardation, Micr... |
OMIM:610198 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Esophageal spasms, Increased circulating lactate... |
ORPHA:447 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Fasciitis, Dupuytren contracture, Lipodystrophy, Maculopapular exa... |
ORPHA:39812 |
Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Elevated circulating C-reactive protein concentration, Hypochromic mi... |
OMIM:619632 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Pruritus, Splenomegaly, Myeloproliferative disorder |
OMIM:607685 |
Hemolytic Anemia, Congenital, X-Linked |
|
Hemolytic anemia, Jaundice |
OMIM:301015 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Decreased methionine synthase activit... |
OMIM:614857 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Maculopapular exanthema, Skin rash, Pruritus, Splenomegaly, Lymphadenopathy, Darier... |
ORPHA:98848 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Skin rash, Eczema, Portal hypertension... |
OMIM:615688 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia, Jaundice |
OMIM:237450 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Anisopoikilocytosis,... |
ORPHA:300298 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ... |
OMIM:269920 |
Jaundice, Familial Obstructive, Of Infancy |
|
Jaundice, Neonatal hyperbilirubinemia |
OMIM:308600 |
Barth Syndrome |
|
Cyclic neutropenia, Hypochromic microcytic anemia, Growth delay, Granulocytopenia, Neutropenia |
OMIM:302060 |
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 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Abdominal pain, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic... |
OMIM:603903 |
Prolidase Deficiency |
|
Hepatomegaly, Petechiae, Eczema, Elevated circulating aspartate aminotransferase concentration, S... |
OMIM:170100 |
Pyridoxal Phosphate-Responsive Seizures |
|
Pyridoxine-responsive sideroblastic anemia, Abnormal circulating glycine concentration, Abnormal ... |
ORPHA:79096 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... |
OMIM:614470 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Nausea and vomiting, Hepatomegaly, Hyperammonemia, Lethargy, Anemia |
ORPHA:28 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Anorexia, Abnormal T cell morphology, Vomiting, Decrease... |
ORPHA:330015 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Cardiomegaly, Dysmetria, Gait ataxia, Steppage gait, Vom... |
ORPHA:14 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,... |
OMIM:608898 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio... |
OMIM:613101 |
Erythrocytosis, Familial, 1 |
|
Plethora, Splenomegaly, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit |
OMIM:133100 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Skin rash, Elevated circulating C-reactive protein concentration, Reduced natural k... |
OMIM:616050 |
Thrombocytopenia 5 |
|
Petechiae, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... |
OMIM:616216 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an... |
ORPHA:1959 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration |
OMIM:614876 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Nausea and vomiting, Hepatomegaly, Anorexia, Abdominal pain, Splenomegaly, Hyperammonemia, Feedin... |
ORPHA:79312 |
Folate Malabsorption, Hereditary |
|
Ataxia, Folate-responsive megaloblastic anemia, Feeding difficulties in infancy, Diarrhea, Leukop... |
OMIM:229050 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Acute colitis, Abdominal pain, Leukocytosis, Schistocytosis, Diarr... |
ORPHA:90038 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Elevated circulating alkaline phosphatase concentration, Hypocalcemia, Hy... |
ORPHA:89937 |
Crigler-Najjar Syndrome, Type I |
|
Jaundice, Unconjugated hyperbilirubinemia |
OMIM:218800 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ... |
OMIM:619902 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Eosinophilia, Hepati... |
ORPHA:400 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Acne, Recurrent skin infection... |
OMIM:300635 |
Dermatitis Herpetiformis |
|
Eczema, Microcytic anemia, Pruritus, Erythema, Urticaria |
ORPHA:1656 |
Galactosemia Iv |
|
Hypergalactosemia, Prolonged neonatal jaundice |
OMIM:618881 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi... |
OMIM:243150 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype... |
ORPHA:79124 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Abnormal abdomen... |
ORPHA:97283 |
Schnitzler Syndrome |
|
Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Leukocytosis, Lymphadenopathy, Urticaria, Anemia |
ORPHA:37748 |
Osteootohepatoenteric Syndrome |
|
Increased intestinal transit time, Abdominal pain, Pruritus, Microvesicular hepatic steatosis, Se... |
OMIM:619377 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia |
OMIM:243320 |
Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Ataxia, Erythroid hypoplasia, Diarrhea, Reticulocy... |
OMIM:275350 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Mevalonic Aciduria |
|
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Ataxia, Elevated circulating creati... |
OMIM:610377 |
Galactosemia Ii |
|
Hypergalactosemia, Prolonged neonatal jaundice |
OMIM:230200 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Reduced 3-phosphoglycerate dehydrogenase activity, Decreased testicular size, Thrombocytopenia, M... |
OMIM:601815 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Feeding difficulties, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatrem... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Feeding difficulties, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatrem... |
ORPHA:529799 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia, Jaundice, Incr... |
OMIM:105600 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Vomiting, Hypoalbuminem... |
OMIM:277900 |
Jervell And Lange-Nielsen Syndrome |
|
Iron deficiency anemia |
ORPHA:90647 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Growth delay, Severe short stature, Prolonged neonatal jaundice |
OMIM:262400 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Petechiae, Abdominal pain, Thrombocytopenia, Abdominal distention, Abnormal lymp... |
ORPHA:2330 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Polycystic liver disease, Abdominal distention, Elevated circulating alkaline phosphatase concent... |
OMIM:174050 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Splenomegaly, ... |
OMIM:618641 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly |
ORPHA:99931 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Pruritus, Intrahepatic cholestasis, Jaundice, Conjugated hyperbilirubinemia, Elevat... |
OMIM:605479 |
Primary Familial Polycythemia |
|
Pruritus, Polycythemia, Abnormal hemoglobin, Abdominal pain |
ORPHA:90042 |
Gilbert Syndrome |
|
Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia |
OMIM:143500 |
Blue Rubber Bleb Nevus |
|
Skin rash, Microcytic anemia |
ORPHA:1059 |
Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Persistence of hemoglobin F, Increased mean corpuscular vol... |
OMIM:610629 |
Wt Limb-Blood Syndrome |
|
Pancytopenia, Cryptorchidism, Joint contracture of the 5th finger, Leukemia, Hypoplastic anemia, ... |
OMIM:194350 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Skin rash, Elevated circulating C-reactive protein concentration, Abdominal pain, Perianal absces... |
OMIM:301074 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Short stature, Increased mean platelet volume, Splenomegaly, Abnormality of the pan... |
OMIM:222470 |
Neonatal Alloimmune Neutropenia |
|
Jaundice, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly |
ORPHA:163596 |
Acquired Von Willebrand Syndrome |
|
Normocytic anemia, Gastrointestinal hemorrhage, Refractory anemia, Metrorrhagia, Melena, Menorrha... |
ORPHA:99147 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Feeding difficulties, Iron deficiency anemia, Constipati... |
OMIM:618885 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Vomiting, Hepat... |
ORPHA:275761 |
Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Growth delay, Neutropenia |
OMIM:612527 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619232 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... |
ORPHA:86839 |
Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... |
OMIM:300972 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia |
ORPHA:100024 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Pruritus, Splenomegaly, Atretic gallbladder, Jaundic... |
ORPHA:30391 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid ac... |
ORPHA:20 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Feeding difficulties in infan... |
OMIM:613070 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90037 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Petechiae, Abnormality of ... |
OMIM:612840 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
Neonatal Hemochromatosis |
|
Congenital hepatic fibrosis, Increased serum iron, Increased circulating ferritin concentration, ... |
ORPHA:446 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Hy... |
OMIM:617021 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Abnormality of iron homeostasis, Anemia |
ORPHA:75563 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hepatomegaly, Thr... |
OMIM:214500 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
Cholestasis, Intrahepatic, Of Pregnancy, 1 |
|
Elevated hepatic transaminase, Pruritus, Intrahepatic cholestasis, Jaundice, Abnormal liver funct... |
OMIM:147480 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Postnatal growth retardation, Hyperhomocystin... |
ORPHA:2169 |
Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Cholangitis, Neutrophilia, Leukocytosis, Angioedema, Hepatosplenomeg... |
ORPHA:3260 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Increased ser... |
OMIM:231100 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Elevated hepatic transaminase, Eczema, Microcytic anemia |
OMIM:612379 |
Reynolds Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Calcinosis, Pruritus, Splenomegaly, Erythema nodosum... |
OMIM:613471 |
Elliptocytosis 3 |
|
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... |
OMIM:617948 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly |
OMIM:615085 |
Galactosemia I |
|
Hemolytic anemia, Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, ... |
OMIM:230400 |
Congenital Pancreatic Cyst |
|
Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting, Pancreatitis |
ORPHA:313906 |
Erythrocytosis, Familial, 4 |
|
Pruritus, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Microcytic anemia |
OMIM:618811 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Bruising susceptibility, HbH hemoglobin, Short stature, Microcytic anemia |
ORPHA:98791 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Pruritus, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis |
ORPHA:71493 |
Birk-Aharoni Syndrome |
|
Cryptorchidism, Inability to walk, Macrocytic anemia, Tube feeding |
OMIM:620071 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibility, Congeni... |
OMIM:300367 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorex... |
ORPHA:507 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abdominal distention, Hyperlipidemia, Portal fibrosi... |
ORPHA:369 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Increased circulating ferritin conc... |
OMIM:604250 |
Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Intestinal bleeding, Abnormality of the liver, Thrombocytopenia |
OMIM:112200 |
Cholestasis, Intrahepatic, Of Pregnancy 3 |
|
Pruritus, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests during pregnancy, Inc... |
OMIM:614972 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalb... |
OMIM:226990 |
Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreased circul... |
ORPHA:3261 |
Gray Platelet Syndrome |
|
Splenomegaly, Bruising susceptibility, Abnormality of thrombocytes, Thrombocytopenia |
ORPHA:721 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-... |
ORPHA:85443 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Mac... |
ORPHA:398124 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Portal hypertension, Nodular regenerative... |
OMIM:619463 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Anorexia, Odynophagia, Bloody diarrhea, Leuko... |
ORPHA:99826 |
Glucagonoma |
|
Poor appetite, Anorexia, Lack of bowel sounds, Hepatomegaly, Acanthocytosis, Necrolytic migratory... |
ORPHA:97280 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic stea... |
ORPHA:2137 |
Monosomy 22 |
|
Seborrheic dermatitis, Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly |
ORPHA:96123 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:158061 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,... |
OMIM:208085 |
Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Intr... |
OMIM:610333 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Eczematoid dermatitis, Hepatomegaly |
OMIM:269840 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Eleva... |
OMIM:614727 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Unsteady gait, No... |
OMIM:615512 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Chronic oral candidiasis, Decreased proportion of naive T cells, Recurrent bacterial... |
ORPHA:276 |
Pearson Syndrome |
|
Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytosis, Hepatome... |
ORPHA:699 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Necrotizing Enterocolitis |
|
Hyponatremia, Abdominal distention, Leukocytosis, Diarrhea, Peritonitis, Bloody diarrhea, Vomitin... |
ORPHA:391673 |
Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Anemia |
ORPHA:1802 |
Autoerythrocyte Sensitization Syndrome |
|
Superficial dermal perivascular inflammatory infiltrate, Autoimmune thrombocytopenia, Abnormal er... |
ORPHA:324636 |
Pediatric Systemic Lupus Erythematosus |
|
Skin rash, Abdominal pain, Discoid lupus rash, Abdominal distention, Diarrhea, Malar rash, Lympha... |
ORPHA:93552 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Increased mean platelet volume, Feeding difficulties in infancy, A... |
OMIM:300048 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Anorexia, Megaloblastic anemia, Diarrhea, Lethargy, Thrombocytopenia |
ORPHA:49827 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Functional intestinal obstruction, Gastrointestinal obstruction, D... |
ORPHA:100078 |
Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia, Ataxi... |
ORPHA:167 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Microcytic anemia, Highly eleva... |
OMIM:251900 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Postnatal growth retardation, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, ... |
OMIM:301040 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Ascites, Microcytic anemia |
ORPHA:90308 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Decreased methionine synthase activity, Skin ... |
OMIM:277380 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Hyperammonemia, Anemia, Growth delay, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:289916 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Spastic ataxia, Hypomethioninemia, Methylmalonic acidemia, Decreased methionine synthase activity... |
OMIM:277410 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Ataxia, Thiamine-responsive megaloblastic anemia, Cryptorchidism, Gastroeso... |
OMIM:249270 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Short stature, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytop... |
ORPHA:124 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Impo... |
OMIM:606069 |
Srd5A3-Cdg |
|
Elevated hepatic transaminase, Microcytic anemia |
ORPHA:324737 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... |
OMIM:613011 |
Syndromic Diarrhea |
|
Hepatomegaly, Short stature, Increased mean platelet volume, Splenomegaly, Abnormality of the liv... |
ORPHA:84064 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Pruritus, Jaundice, Acholic stools, Cholestatic liver disease, Cir... |
ORPHA:65682 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Ataxia, Abnormality of neutrophils, Hypochromic anemia |
ORPHA:2720 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Short stature, Postnatal growth retardation, Conjugated hyperbiliru... |
ORPHA:168577 |
Alveolar Echinococcosis |
|
Liver abscess, Ataxia, Eosinophilia, Cholangitis, Abdominal pain, Portal hypertension, Hepatic cy... |
ORPHA:284 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, Prolonged neonatal jaundice, HbH hemoglobin, Gastrosto... |
ORPHA:423479 |
Aicardi-Goutieres Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Chilblains, Petechiae, Splenomegaly, ... |
OMIM:225750 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Skin rash, Increased total bilirubin |
ORPHA:90036 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepatitis, Thymoma, Iron deficien... |
OMIM:269200 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Hypercalcemia, Anemia, Ascites, Thrombocytopenia |
ORPHA:2123 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ... |
OMIM:232700 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Short stature, Splenomegaly, Decreased beta-glucocerebrosidase level,... |
OMIM:231000 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... |
OMIM:618213 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Myeloid leukemia, Nausea, Flushing, Hepatomegaly, Neutrophilia, Abdominal pain... |
ORPHA:98849 |
Poems Syndrome |
|
Abnormality of skin physiology, Lymphadenopathy, Acrocyanosis, Thrombocytosis, Ascites, Polycythe... |
ORPHA:2905 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry... |
OMIM:300946 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Methylmalonic acidemia, Loss of ability to walk in early childhood, Elevated circulating creatine... |
OMIM:612073 |
Trehalase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Abdominal pain, Abdominal distention, Diar... |
ORPHA:103909 |
Lambert Syndrome |
|
Jaundice, Intrahepatic biliary atresia |
OMIM:245550 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Leukocytosis, Hyperammonemia, Hyperuricemia, Thrombocytosis |
ORPHA:134 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Skin rash, Pruritus, Abnormality of the pancreas, Pruritus on foot... |
ORPHA:69665 |
Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
Acatalasemia |
|
Reduced catalase level, Microcytic anemia |
ORPHA:926 |
Imerslund-Grasbeck Syndrome 2 |
|
Megaloblastic anemia |
OMIM:618882 |
Legionnaires Disease |
|
Nausea and vomiting, Hyponatremia, Ataxia, Anorexia, Abdominal pain, Splenomegaly, Diarrhea, Jaun... |
ORPHA:549 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Pruritus, Splenomegaly, Jaundice, Cholestasis, Sclerosing chol... |
OMIM:607626 |
Acrocephalopolydactyly |
|
Protuberant abdomen, Hepatosplenomegaly |
ORPHA:221054 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality, Abnormality of ... |
ORPHA:234 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Neutrophilia, Liver abscess, Elevated circulating C-reactive prote... |
ORPHA:54251 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Malformation of the hepatic ductal plate, Con... |
ORPHA:84081 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Transaldolase Deficiency |
|
Hepatosplenomegaly, Anemia, Telangiectasia, Abnormal circulating glutamine concentration, Increas... |
ORPHA:101028 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Short stature, Hepatomegaly |
ORPHA:417 |
Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Splenomegaly, Jaundice, Decreased liver f... |
OMIM:251290 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Abnormal cir... |
ORPHA:101330 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Recurrent skin infections, Short stature, Postnatal growth retardation, Splenomegal... |
OMIM:620210 |
Immunodeficiency 102 |
|
Hepatomegaly, Recurrent skin infections, Autoimmune thrombocytopenia, Nodular regenerative hyperp... |
OMIM:301082 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia |
OMIM:118830 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure |
OMIM:618549 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Chronic oral candidiasis, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopath... |
OMIM:301078 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
Bleeding Disorder, Platelet-Type, 19 |
|
Macrothrombocytopenia, Anemia, Spontaneous hematomas, Menorrhagia, Thrombocytopenia |
OMIM:616176 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia, Lymphade... |
OMIM:615387 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Hepatomegaly |
ORPHA:882 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Growth delay, Cyanosis, Methemoglobinemia, Polycythemia |
OMIM:250800 |
Hereditary Chronic Pancreatitis |
|
Abnormal circulating enzyme concentration or activity, Elevated circulating C-reactive protein co... |
ORPHA:676 |
Fanconi Anemia, Complementation Group G |
|
Growth delay, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:614082 |
Diamond-Blackfan Anemia 5 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia |
OMIM:612528 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Pruritus, Splenomegaly, Lymphadenopathy, Hepatomegaly |
ORPHA:86893 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Skin rash, Megaloblastic anemia, Feeding difficulties, Hyperhomocystinemia, El... |
ORPHA:79284 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P... |
OMIM:618398 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Idiopathic Congenital Hypothyroidism |
|
Feeding difficulties in infancy, Constipation, Prolonged neonatal jaundice, Umbilical hernia, Neo... |
ORPHA:95717 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Elevated circulating C-reactive protein concentration, Abdominal pain, Erythema nodosu... |
OMIM:611762 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Anemia, Vasculitis in the skin, Petechiae, Purpura |
OMIM:620296 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Abdominal pain, Biliary tract abnormality, Bloody diar... |
OMIM:175200 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly |
OMIM:273680 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... |
OMIM:308240 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Microvesicular hepatic steato... |
OMIM:619418 |
Vipoma |
|
Nausea and vomiting, Hepatomegaly, Neoplasm of the pancreas, Hypercalcemia, Poor appetite, Anorex... |
ORPHA:97282 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Skin rash, Eczema, Pruritus, Splenomegaly, Erythema, Lymphadenopathy, Abnormal lymp... |
ORPHA:2584 |
Bone Marrow Failure Syndrome 2 |
|
Anemia, Leukopenia, Bone marrow hypocellularity, Cutaneous photosensitivity, Thrombocytopenia |
OMIM:615715 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... |
ORPHA:90003 |
Adiposis Dolorosa |
|
Abdominal distention, Constipation, Painful subcutaneous lipomas |
OMIM:103200 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia |
ORPHA:90033 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Elevated proportion of CD4-negati... |
OMIM:619802 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Elevated circulating aspartate aminotransferase concentration, Postnatal growth retardation, Intr... |
OMIM:617093 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent... |
OMIM:602390 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Vomiting, Hepatic fibrosis, Intrahepatic bile duct dil... |
OMIM:301068 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Lambert Syndrome |
|
Intrauterine growth retardation, Jaundice, Intrahepatic biliary atresia, Cholestasis |
ORPHA:1296 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Anemia, Hepatomegaly |
OMIM:618107 |
Combined Saposin Deficiency |
|
Splenomegaly, Hepatomegaly |
OMIM:611721 |
Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... |
OMIM:301000 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Short stature, Abnormality of neutrophils |
ORPHA:2760 |
Immunodeficiency 42 |
|
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Chro... |
OMIM:616622 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating alanine aminotransferase... |
OMIM:614300 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Short stature, Splenomegaly, Growth delay, Hyperuricemia, Increased hepatic glycoge... |
OMIM:261750 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ... |
ORPHA:100026 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Elevated hepatic transaminase, Short stature, Lack of facial subcutaneo... |
ORPHA:2959 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Elevated circulating creatine kinase concentration, Feeding difficulties in infancy, Normochromic... |
OMIM:618775 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Neutropenia in presence of a... |
ORPHA:525731 |
Alg6-Cdg |
|
Abnormal circulating enzyme concentration or activity, Ataxia, Jaundice, Decreased LDL cholestero... |
ORPHA:79320 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis |
ORPHA:60 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Hypogonadism, Cryptorchidism, Ataxia, Neonatal hyperbilirubinemia |
ORPHA:3363 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... |
ORPHA:100085 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal subcutaneous fat tissue distribution, Hepat... |
OMIM:212065 |
Thyroid Hemiagenesis |
|
Abdominal distention, Jaundice, Umbilical hernia, Constipation |
ORPHA:95719 |
Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Portal hypertension, Increased circulating IgA level, C... |
ORPHA:186 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Abdominal distent... |
OMIM:617156 |
Imerslund-Grasbeck Syndrome 1 |
|
Megaloblastic anemia |
OMIM:261100 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Hypoalbuminemia, Hepati... |
ORPHA:171 |
Myopathy With Lactic Acidosis, Hereditary |
|
Sideroblastic anemia, Elevated circulating creatine kinase concentration, Leukopenia, Difficulty ... |
OMIM:255125 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, Pancreatic hy... |
ORPHA:811 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Macrocytic anemia, Hypersegmentation of neutrophil nuclei, Dysmetria |
OMIM:615578 |
Aggressive Systemic Mastocytosis |
|
Anorexia, Neutropenia, Flushing, Maculopapular exanthema, Portal hypertension, Abdominal pain, Le... |
ORPHA:98850 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta... |
OMIM:619484 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, E... |
OMIM:301054 |
Mitochondrial Dna Depletion Syndrome 19 |
|
Microcytic anemia |
OMIM:618972 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Ataxia, Bone-marrow foam cells, Fetal ascites, Low ... |
OMIM:257220 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Decreased circulating 12-HETE, Iron deficiency anemia, Decreased serum thromboxane B2, Impaired p... |
OMIM:618372 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Throm... |
ORPHA:158029 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Short stature, Congenital hypoplastic anemia, Reticulocytopenia, Webbed neck, ... |
OMIM:105650 |
Dengue Fever |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Petechiae, Abdominal p... |
ORPHA:99828 |
Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Necrotizing enterocolitis, Decreased fumarate hydratase acti... |
OMIM:606812 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Corneal scarring, Atypical scarring of sk... |
OMIM:263700 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Leukopenia, Vomiting, Lymphocytosis, Hypocalcemia, Elevated he... |
OMIM:619991 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Splenomegaly, Feeding difficulties, Anemia, Gastroesophageal reflux, Protuberant ab... |
OMIM:230900 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, Growth delay, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
H Syndrome |
|
Psoriasiform dermatitis, Short stature, Hypertriglyceridemia, Microcytic anemia, Hepatosplenomega... |
ORPHA:168569 |
Lathosterolosis |
|
Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos... |
OMIM:607330 |
Pulmonary Arteriovenous Malformation |
|
Liver abscess, Cyanosis, Telangiectasia, Iron deficiency anemia, Gastrointestinal infarctions |
ORPHA:2038 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Chronic diarrhea, Exocrine pancreatic insufficiency, Megaloblastic anemia |
ORPHA:309108 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenom... |
OMIM:150550 |
O'Donnell-Luria-Rodan Syndrome |
|
Cryptorchidism, Prolonged neonatal jaundice, Vomiting, Feeding difficulties |
OMIM:618512 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Pruritus, Conjugated hyperbili... |
OMIM:613404 |
Hereditary Methemoglobinemia |
|
Athetosis, Cyanosis, Methemoglobinemia |
ORPHA:621 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Fetal ascites, Hepatomegaly |
OMIM:619462 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating lactate dehydrogenase concentration, Hepatomegaly, Elevated circulating ala... |
OMIM:605911 |
Tempi Syndrome |
|
Facial erythema, Telangiectasia, Increased circulating IgG level, Increased hematocrit, Ascites, ... |
ORPHA:284227 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... |
OMIM:620045 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Inguinal hernia, Thyroid lymphangiectasia, Splenomegaly, Abdominal distention, Panc... |
OMIM:235255 |
Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Thrombocytopenia, Abdominal distention, Hyperlipidemia, Decreased propo... |
ORPHA:1830 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomeg... |
OMIM:612526 |
Sandhoff Disease |
|
Splenomegaly, Hepatomegaly |
ORPHA:796 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... |
OMIM:271500 |
Brucellosis |
|
Hepatomegaly, Liver abscess, Lung abscess, Elevated circulating C-reactive protein concentration,... |
ORPHA:1304 |
Mcleod Syndrome |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
OMIM:300842 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Abnormal erythrocyte morphology, Diarrhea, Folate-unresponsive megaloblastic anemia, Megaloblasti... |
ORPHA:2575 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Skin rash, Sple... |
OMIM:617591 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Hepatomegaly, Jaundice, Elevated circulating tetracosanoic acid concentration, Elevated circulati... |
OMIM:614872 |
Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Secretory diarrhea, Elevated gamma-glutamy... |
OMIM:619573 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Eczema, Poor appetite, Feeding difficulties in infancy, Hyperammonemi... |
OMIM:606054 |
Immunodeficiency 54 |
|
Hepatomegaly, Short stature, Postnatal growth retardation, Splenomegaly, Lymphadenopathy, Intraut... |
OMIM:609981 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Growth delay, Hy... |
OMIM:306000 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ... |
OMIM:613027 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:614887 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615895 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Iron deficiency anemia, Colitis, Exocrine pancrea... |
ORPHA:309031 |
Cold Agglutinin Disease |
|
Nausea and vomiting, Hemolytic anemia, Hepatomegaly, Splenomegaly, Diarrhea, Lymphadenopathy |
ORPHA:56425 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Nausea and vomiting, Macrocytic anemia, Hyponatremia, Premature ovarian insuff... |
ORPHA:199299 |
Eisenmenger Syndrome |
|
Hepatomegaly, Brain abscess, Cyanosis, Elevated circulating C-reactive protein concentration, Hyp... |
ORPHA:97214 |
Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Hyponatremia, Increased circulating lactate dehydrogenase concentr... |
ORPHA:94093 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Jaundice, Pancreatitis, Episodic abdominal pain, Hepatosplenomegaly... |
OMIM:238600 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Inguinal hernia, Anorexia, Abdominal pain, Abdominal distention, Leukocytosis, Recurrent infectio... |
ORPHA:51890 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, J... |
ORPHA:521219 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Growth delay |
OMIM:612561 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Maculopapular e... |
OMIM:619644 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Feeding difficulties, Constipation, Prolonged neonatal jaundice, U... |
ORPHA:95715 |
Hamamy Syndrome |
|
Inguinal hernia, Microcytic anemia, Cryptorchidism, Hypochromic anemia, Enamel hypoplasia |
OMIM:611174 |
Yellow Fever |
|
Acute pancreatitis, Neutrophilia, Skin rash, Elevated circulating creatine kinase concentration, ... |
ORPHA:99829 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Neutrophilia, Skin rash, Generalized lymphadenopathy... |
ORPHA:829 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Ataxia, Abdominal pain, Abdominal distention, Gastrointestinal dys... |
OMIM:613662 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... |
OMIM:617049 |
Lipoyltransferase 1 Deficiency |
|
Elevated hepatic transaminase, Hyperglutaminemia, Hyperprolinemia, Decreased liver function, Incr... |
OMIM:616299 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Low cholesterol esterification rate, Splenom... |
OMIM:607625 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea n... |
OMIM:617872 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Feeding difficulties in infancy, Decreased me... |
OMIM:251110 |
Familial Thyroid Dyshormonogenesis |
|
Feeding difficulties in infancy, Constipation, Prolonged neonatal jaundice, Umbilical hernia, Abn... |
ORPHA:95716 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Skin rash, Cholestasis, Hepatomegaly |
OMIM:105200 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal circulating enzyme concentration or activity, Abdominal pain, Abdominal diste... |
ORPHA:103907 |
Hydroxykynureninuria |
|
Jaundice |
OMIM:236800 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Inguinal hernia, Splenomegaly, Abdominal distention, Pancreatic lymphangiectasis, P... |
ORPHA:1655 |
Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hematocrit, Plethora, Increased hemoglobin |
OMIM:263400 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Reduced serum a... |
OMIM:613490 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Anemia, Tel... |
OMIM:606003 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:618495 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis, Short stature |
ORPHA:66518 |
Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Pruritus, Splenomegaly, Leukocytosis, Lymphadenopathy, Erythroderma, ... |
ORPHA:39041 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Elevated circulating aspartate aminotransferase concentration, Bilateral cryptorchidism, Intrahep... |
OMIM:619685 |
Hereditary Folate Malabsorption |
|
Nausea and vomiting, Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Diarrhea, Decrea... |
ORPHA:90045 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Elevated circulating C-rea... |
ORPHA:1451 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Pruritus, Granulomatous cholangitis, Cholestasis, Abnormal intrahe... |
ORPHA:562639 |
Hijazi-Reis Syndrome |
|
Chronic constipation, Gastroesophageal reflux, Gait disturbance, Hyperbilirubinemia, Gastrostomy ... |
OMIM:301094 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Ataxia, Megaloblastic anemia, Dysphagia, Testicular atrophy, Thrombocytopenia |
OMIM:222300 |
Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Hypertriglyceridemia, Eczema, Pruritus, Erythema, Cholelithiasis, Hepatic failure |
OMIM:177000 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Abdominal pain, Leukocytosis... |
ORPHA:2070 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Dysmenorrhea, Vomiting, Hepatic fibrosis, Hep... |
ORPHA:264580 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea |
OMIM:616868 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure |
OMIM:616719 |
Rift Valley Fever |
|
Elevated hepatic transaminase, Skin rash, Anorexia, Hematemesis, Jaundice, Hepatitis, Melena, Ane... |
ORPHA:319251 |
Bleeding Disorder, Platelet-Type, 16 |
|
Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platel... |
OMIM:187800 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Elevated circulating aspartate a... |
OMIM:227810 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Umbilical hernia, Jaundice, Constipation, Gait disturbance |
ORPHA:2349 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, M... |
OMIM:256040 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Hypertriglyceridemia, Generalized lymphadenopathy, Splenomegaly, Absent circulating... |
OMIM:620282 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Purpura, Ataxia, Cutis marmorata, A... |
ORPHA:33226 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Gastrointestinal hemorrhage, Skin rash, Nodular regenerative hyperplasia of li... |
ORPHA:247691 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Telangiectasia of the skin, Portal hypertension, Microcytic anemia, ... |
ORPHA:774 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Abdominal distention, Leukocytosis, Chronic diarrhea, Mediastinal lymphadenopathy, ... |
OMIM:620233 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Macrocytic anemia, Ataxia, Feeding difficulties, Gait disturbance, Hypogonadism, Dysphagia |
ORPHA:98673 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Short stature, Eczema, Abscess, Perianal abscess, Splenomeg... |
OMIM:618935 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Feeding difficulties in infancy... |
OMIM:608836 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Stillbirth, Neonatal death, ... |
ORPHA:85212 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Eczema, Short stature, Pancreatic steatosi... |
OMIM:617052 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Short stature, Microcytic anemia, Severe postnatal growth retardation, Delayed puberty, Moderate ... |
ORPHA:293967 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Eczema, Pure red cell aplasia... |
ORPHA:436159 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:617068 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Reduced circulating aldolase concentration, Abdominal pain, Abdominal distention, D... |
ORPHA:469 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:616433 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Premature graying of hair, Increased mean ... |
OMIM:127550 |
Lymphatic Malformation 7 |
|
Abdominal distention, Ascites, Anemia |
OMIM:617300 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Ecchymosis, Th... |
ORPHA:88 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Splenomegaly, Ascites, Anemia |
ORPHA:1046 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:610293 |
Cirrhosis, Familial |
|
Abdominal distention, Fulminant hepatitis, Jaundice, Micronodular cirrhosis, Biliary cirrhosis, I... |
OMIM:215600 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology |
ORPHA:3032 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Splenomegaly, Intrauterine growth retardation, Hepatomegaly |
OMIM:608540 |
Non-Functioning Pituitary Adenoma |
|
Nausea and vomiting, Macroorchidism, postpubertal, Decreased female libido, Hypogonadotropic hypo... |
ORPHA:91349 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Granulocytopenia, Congenital diaphragmatic hernia, Feeding difficulties |
OMIM:606164 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Short stature, Hepatomegaly |
ORPHA:2204 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Hematemesis, Bloody diarrhea, Hematochezia, Melena,... |
ORPHA:464321 |
Familial Pancreatic Carcinoma |
|
Nausea and vomiting, Elevated hepatic transaminase, Pancreatic adenocarcinoma, Functional intesti... |
ORPHA:1333 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Foot joint contracture, Recurrent skin infections, Abnormal circulating selenium concentration, M... |
ORPHA:79408 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... |
ORPHA:3226 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Pruritus, Abnormality of the spleen, Lymphadenopathy, Darier's sign, Urticaria, Abn... |
ORPHA:79456 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Vomiting, Macro... |
OMIM:256810 |
Drug-Induced Lupus Erythematosus |
|
Petechiae, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr... |
ORPHA:231111 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Hyperalaninemia, Ataxia, Elevated circulating acylcarnitine concentration, Abnormal circulating c... |
OMIM:615838 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, In... |
ORPHA:158048 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:619525 |
Immunodeficiency 96 |
|
Conjunctival telangiectasia, Eczema, Increased proportion of gamma-delta T cells, Growth delay, I... |
OMIM:619774 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Petechiae, Eczema, Microcytic anemia, Thrombocy... |
ORPHA:906 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79240 |
Acquired Methemoglobinemia |
|
Cyanosis, Methemoglobinemia, Vomiting, Abdominal pain |
ORPHA:464453 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E... |
ORPHA:731 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... |
OMIM:615513 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... |
ORPHA:331206 |
Muckle-Wells Syndrome |
|
Hepatomegaly, Short stature, Skin rash, Splenomegaly, Urticaria, Delayed puberty, Anemia |
ORPHA:575 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Eczema, Autoimmune thrombocyt... |
OMIM:616100 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Short stature,... |
OMIM:260400 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Neutrophilic Dermatosis, Acute Febrile |
|
Elevated circulating C-reactive protein concentration, Erythema, Anemia, Panniculitis, Cystic acn... |
OMIM:608068 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Hypoplasia of the thymus... |
OMIM:214110 |
Schimke Immunoosseous Dysplasia |
|
Waddling gait, Pancytopenia, Abnormal immunoglobulin level, Bilateral cryptorchidism, Abnormal T ... |
OMIM:242900 |
Ogden Syndrome |
|
Cardiomegaly, Microvesicular hepatic steatosis, Iron deficiency anemia, Vomiting, Macrovesicular ... |
OMIM:300855 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Bruising susceptibility, Anemia, Leukope... |
ORPHA:77259 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Pancytopenia, Inguinal hernia, Portal hypertension, Cholestasis, F... |
OMIM:613658 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Roifman Syndrome |
|
Hepatomegaly, Short stature, Eczema, Eosinophilia, Postnatal growth retardation, Splenomegaly, Ly... |
OMIM:616651 |
Diamond-Blackfan Anemia 11 |
|
Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
Reynolds Syndrome |
|
Hepatomegaly, Skin rash, Telangiectasia of the skin, Pruritus, Jaundice, Cirrhosis, Ascites, Gene... |
ORPHA:779 |
Infantile Liver Failure Syndrome 2 |
|
Acute hepatic failure, Elevated hepatic transaminase, Jaundice, Hyperammonemia, Vomiting, Lethargy |
OMIM:616483 |
Fanconi Anemia, Complementation Group V |
|
Short stature, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marro... |
OMIM:617243 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... |
OMIM:308230 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Ataxia, Megaloblastic anemia, Jaundice, Hyperammonemia... |
ORPHA:79282 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Gastroesophageal reflux, Vomiting, Nausea, Male infertil... |
ORPHA:85450 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly |
OMIM:618838 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, T lymphocyto... |
OMIM:300400 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia |
OMIM:600546 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Increased circulating lactate dehydrogenase concen... |
OMIM:614866 |
Crigler-Najjar Syndrome |
|
Jaundice, Abnormality of the liver |
ORPHA:205 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, H... |
OMIM:615122 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Abdominal distention, Hepatiti... |
ORPHA:436252 |
Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Neutrophilia, Short stature, Microcytic anemia, Leukocytosis, Intrauterine growth r... |
ORPHA:99843 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Hiatus hernia, Feeding difficulties, Persistence of hemoglobin F, Gastroesophageal reflux, Increa... |
OMIM:619769 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Inguinal hernia, Hypoglycinemia, Megaloblastic anemia, Feeding difficulties, Hyposerinemia, Athet... |
ORPHA:79351 |
Gaisböck Syndrome |
|
Plethora, Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration... |
ORPHA:90041 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
OMIM:608779 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Hepatic steatosis, Hepatomegaly, Anemia, Irregular menstruat... |
ORPHA:79259 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Petechiae, Increased mean platelet volume, Impaired ristocetin-induced platelet... |
OMIM:153670 |
Cogan Syndrome |
|
Thrombocytosis, Leukocytosis, Anemia |
ORPHA:1467 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Unsteady gait, Gait ataxia, Normochromic anemia, Hypoalbuminemia, Dysphagia, Thrombocytopenia |
OMIM:254900 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Short stature, Elevated circulating long chain fatty acid concentr... |
OMIM:614886 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Elevated circu... |
ORPHA:26793 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Recurrent skin infections, Short stature, Decreased proportion of class-switched me... |
OMIM:233600 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Purpura, Enlarged kidney, Autoimmune thrombocytopenia |
OMIM:613496 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Poor wound... |
OMIM:608203 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Primary Effusion Lymphoma |
|
Abnormal peritoneum morphology, Abdominal distention, Abdominal pain |
ORPHA:48686 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Cryptorchidism, Anemia, Hypocalcemia, Hyperbilirubinemia, Thrombocytopenia |
ORPHA:163979 |
Polyembryoma |
|
Abnormal peritoneum morphology, Abdominal mass, Elevated circulating alpha-fetoprotein concentrat... |
ORPHA:180229 |
Caspase 8 Deficiency |
|
Short stature, Eczema, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:607271 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyperbilirubinemia, In... |
OMIM:615710 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Feeding difficulties in infancy, Abdominal distention, Constipation, Protuberant abdomen, Prolong... |
ORPHA:226313 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Feeding difficulties in infancy, Decreased me... |
OMIM:251100 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Abdomin... |
OMIM:235200 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Short stature, Eosinophilia, Atopic dermatitis, Hepatosplenomega... |
OMIM:618999 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Megaloblastic ... |
OMIM:277400 |
Secondary Short Bowel Syndrome |
|
Small intestinal dysmotility, Abdominal distention, Diarrhea, Malnutrition, Low plasma citrulline... |
ORPHA:95427 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ab... |
ORPHA:103910 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, P... |
OMIM:251000 |
Degcags Syndrome |
|
Hepatomegaly, Pancytopenia, Congenital hypoplastic anemia, Oral-pharyngeal dysphagia, Hiatus hern... |
OMIM:619488 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Diarrhea, Neutropenia, Hyperechogenic pancreas, Thrombocytopenia... |
OMIM:617941 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Erythroderma, Hepatitis, Lymphadenopathy, Anem... |
OMIM:304790 |
Gaucher Disease Type 2 |
|
Splenomegaly, Hepatomegaly |
ORPHA:77260 |
Purine Nucleoside Phosphorylase Deficiency |
|
Increased circulating inosine concentration, Autoimmune hemolytic anemia, Ataxia, Impaired T cell... |
OMIM:613179 |
Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Anemia, Increa... |
OMIM:185070 |
Familial Chylomicronemia Syndrome |
|
Nausea and vomiting, Acute pancreatitis, Hypertriglyceridemia, Perianal abscess, Hyperlipidemia, ... |
ORPHA:444490 |
Crimean-Congo Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Anorexia, Leukopenia, Increased circulating I... |
ORPHA:99827 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splen... |
OMIM:232220 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Nausea and vomiting, Psoriasiform dermatitis, Deep dermal perivascular inflamm... |
ORPHA:49041 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Skin rash, Poor appetite, Diarrhea, Elevated circulating creatinin... |
ORPHA:542323 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:230800 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hyperalaninemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dec... |
OMIM:619048 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Hepatoblastoma, Iron deficiency anemia, Intestinal bleeding, Spastic gait |
ORPHA:261584 |
Maternal Uniparental Disomy Of Chromosome 1 |
|
Growth delay, Hepatomegaly, Pancytopenia, Short stature |
ORPHA:251009 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Broad-based gait, Limb ataxia, Truncal ataxia |
OMIM:617101 |
Peritoneal Cystic Mesothelioma |
|
Dyspareunia, Metrorrhagia, Abdominal pain, Abdominal distention, Peritonitis, Constipation, Menor... |
ORPHA:168816 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Elevated circulating creatine kinase concentration, Decreased liver function, Anemia |
OMIM:618835 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Chronic oral candidiasis, Recurrent skin infections, Short stature, Peria... |
ORPHA:2968 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Elevated circulating creatine kinase concentration, Decreased liver function, Anemia |
OMIM:618839 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulatin... |
OMIM:613095 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Skin rash, Pruritus, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:391 |
Folinic Acid-Responsive Seizures |
|
Abdominal distention, Broad-based gait, Ataxia, Difficulty walking |
ORPHA:79097 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia, Reticulocytope... |
OMIM:613309 |
Adenohypophysitis |
|
Hyponatremia, Decreased female libido, Poor appetite, Normochromic anemia, Impotence, Decreased m... |
ORPHA:95512 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Elevated circulating alkaline phosphatase conce... |
OMIM:259700 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Erythema, Generaliz... |
OMIM:619183 |
Athyreosis |
|
Abdominal distention, Constipation, Feeding difficulties |
ORPHA:95713 |
Sézary Syndrome |
|
Hepatomegaly, Pruritus, Splenomegaly, Lymphadenopathy, Erythroderma, Abnormal lymphocyte morphology |
ORPHA:3162 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase c... |
OMIM:614576 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Elevated circulating alkaline phosphat... |
OMIM:613489 |
Lesch-Nyhan Syndrome |
|
Megaloblastic anemia, Choreoathetosis, Vomiting, Hyperuricemia, Dysphagia, Testicular atrophy |
OMIM:300322 |
Felty Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Bone marrow hypocellularity, Neutropenia, Ab... |
ORPHA:47612 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:2088 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Spastic ataxia, Hyperglutamatemia, Hypoargininemia, Chronic diarrhea, Low plasma citrulline, Hype... |
OMIM:620358 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Short stature, Abnormality of the tonsils, Hepatomegaly |
ORPHA:93476 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Abdominal pain, Leukocytosi... |
ORPHA:67 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:617388 |
Galactose Mutarotase Deficiency |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Cholestasis, Hypergalactosem... |
ORPHA:570422 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Urticaria, Splenomegaly, Pancytopenia |
OMIM:614979 |
Copper Deficiency, Familial Benign |
|
Decreased circulating copper concentration, Anemia, Seborrheic dermatitis |
OMIM:121270 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Growth delay, Increased mean corpuscular volume, Neutropenia, Intrauterine gro... |
OMIM:612562 |
Peroxisome Biogenesis Disorder 6B |
|
Ataxia, Unsteady gait, Elevated circulating phytanic acid concentration, Limb ataxia, Gait ataxia... |
OMIM:614871 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Skin rash, Fetal ascites, Leukocytosis, Hepatitis, Cholestasis, H... |
ORPHA:292 |
Leptospirosis |
|
Nausea and vomiting, Hepatomegaly, Skin rash, Anorexia, Abdominal pain, Diarrhea, Jaundice, Hepat... |
ORPHA:509 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Abdominal pain, Jaundic... |
OMIM:229600 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Nausea and vomiting, Hyponatremia, Decreased female libido, Hypercalcemia, Ano... |
ORPHA:95409 |
Livedoid Vasculopathy |
|
Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,... |
ORPHA:542643 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia |
ORPHA:397596 |
Myopathy With Extrapyramidal Signs |
|
Elevated hepatic transaminase, Hepatomegaly, Extremely elevated creatine kinase, Elevated circula... |
OMIM:615673 |
Familial Atrial Myxoma |
|
Jaundice, Ascites, Cholestasis, Cardiomegaly |
ORPHA:615 |
Pfapa Syndrome |
|
Splenomegaly, Lymphadenopathy, Hepatomegaly |
ORPHA:42642 |
Panhypophysitis |
|
Hyponatremia, Decreased female libido, Poor appetite, Normochromic anemia, Impotence, Decreased m... |
ORPHA:95513 |
Gitelman Syndrome |
|
Nausea and vomiting, Neoplasm of the pancreas, Abdominal pain, Diarrhea, Hypermagnesemia, Iron de... |
ORPHA:358 |
Mulibrey Nanism |
|
Hepatomegaly, Short stature, Intrauterine growth retardation |
ORPHA:2576 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Abdominal distention, Ex... |
ORPHA:100086 |
Diarrhea 12, With Microvillus Atrophy |
|
Dependency on parenteral nutrition, Abdominal distention, Secretory diarrhea, Vomiting |
OMIM:619445 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:348 |
Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Inguinal hernia, Akinesia, Acanthocytosis, Flexion contracture, Elbow flexion ... |
OMIM:618947 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Short stature, Neutropenia |
OMIM:618752 |
Sialidosis Type 2 |
|
Splenomegaly, Ascites, Short stature, Hepatomegaly |
ORPHA:87876 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Anorexia, Elevated circulating C-reactive protein concentration, Leu... |
ORPHA:50918 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia |
ORPHA:169090 |
Addison Disease |
|
Normocytic anemia, Nausea and vomiting, Hyponatremia, Premature ovarian insufficiency, Primary te... |
ORPHA:85138 |
Farber Lipogranulomatosis |
|
Splenomegaly, Lipogranulomatosis, Decreased acid ceramidase activity, Hepatomegaly |
OMIM:228000 |
Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis, Methemoglobinemia |
OMIM:250790 |
Neuraminidase Deficiency |
|
Hepatomegaly, Short stature, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymph... |
OMIM:256550 |
Ppoma |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Hepatomegaly, Neoplasm ... |
ORPHA:97278 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Gastrointestinal hemorrhage, Hypertyrosinemia, Hepatomegaly, Elevated hepa... |
OMIM:276700 |
Sialuria |
|
Splenomegaly, Inguinal hernia, Protuberant abdomen, Hepatomegaly |
OMIM:269921 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Biliary cirrhosis... |
ORPHA:227990 |
Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... |
OMIM:139090 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Increased circulating galectin-3 lev... |
ORPHA:57777 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Splenomegaly, Abdominal distention, Hepatomegaly |
OMIM:602557 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Hyperglutaminemia, Low plasma citrulline, Jaundice, Hyperammonemia, Hyperproline... |
OMIM:615751 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Cyanosis, Splenomegaly, Growth delay, Ascites |
ORPHA:2414 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hypercalcemia, Feeding difficulties in infancy, Splenomegaly, Constipat... |
OMIM:239200 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Neonatal death, Elevated circulating glutaric acid concentration, Hepatic... |
OMIM:231680 |
Kearns-Sayre Syndrome |
|
Sideroblastic anemia, Ataxia |
OMIM:530000 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating creatine kinase ... |
OMIM:232400 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Eczema, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B lymphocytopenia, Bone ma... |
ORPHA:508542 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Severe short-limb dwarfism, Rhizomelia, Anemia |
ORPHA:1842 |
Primary Peritoneal Carcinoma |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation |
ORPHA:168829 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypolysinemia, Protein avoidance, Splenomegaly, Diarrhea, Malnutrition, Increased c... |
OMIM:222700 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Skin rash, Elevated circulating C-reactive protein concentration, Splenomegaly, Lym... |
ORPHA:85414 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy |
ORPHA:99978 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Feeding difficulties in infancy, Constipation, Prolong... |
ORPHA:90673 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Hyperammonemia, Hyperuricemia, Anemia |
OMIM:246450 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Ataxia, Skin rash, Diarrhea, Jaundice... |
ORPHA:90062 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Ataxia, Impaired T cell function, Poor appetite, Perianal erythema, Splenomegaly, D... |
OMIM:201100 |
Fish-Eye Disease |
|
Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly |
ORPHA:79292 |
Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Polysplenia,... |
OMIM:614294 |
Osteopetrosis, Autosomal Recessive 9 |
|
Postnatal growth retardation, Elevated circulating creatinine concentration, Hyperkalemia, Elevat... |
OMIM:620366 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia... |
OMIM:227650 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Abdominal distention, Constipation, Vomiting, Enterocolitis |
OMIM:142623 |
Essential Thrombocythemia |
|
Splenomegaly, Abnormality of thrombocytes, Abnormal platelet morphology, Acute leukemia |
ORPHA:3318 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
B4Galt1-Cdg |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Inflammator... |
ORPHA:79332 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopenia, Biliary cirrhosis... |
ORPHA:227982 |
Cronkhite-Canada Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:2930 |
Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Abdominal pain, Abdominal distention, Diarrhea, Jaundi... |
ORPHA:677 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... |
OMIM:250250 |
Volvulus Of Midgut |
|
Abdominal distention, Constipation, Neonatal intestinal obstruction |
OMIM:193250 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Exocrine pancreatic insufficiency, Elevated hemoglobin A1c, Abdominal pain |
OMIM:609812 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Cholangitis, Rhizomelia, Splenomegaly... |
OMIM:613610 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Elevated hepatic transaminase, Cryptorchidism, Jaundice, Flexion contracture, Hypoproteinemia |
OMIM:608093 |
Allan-Herndon-Dudley Syndrome |
|
Ataxia, Feeding difficulties in infancy, Cryptorchidism, Flexion contracture, Choreoathetosis, Pr... |
ORPHA:59 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia, Anemia, Neutrope... |
OMIM:600901 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia, Cholestasis |
OMIM:609734 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... |
OMIM:602450 |
Immunodeficiency, Common Variable, 2 |
|
Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly |
OMIM:240500 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hepatic failure, Hyperammonemia |
ORPHA:664 |
Pituitary Apoplexy |
|
Nausea and vomiting, Hyponatremia, Hypergonadotropic hypogonadism, Normochromic anemia, Impotence... |
ORPHA:95613 |
Achondrogenesis Type 1A |
|
Abdominal distention, Umbilical hernia, Femoral hernia |
ORPHA:93299 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short stature, Postnatal growth retardation, Severe postnatal growth retardation, Severe intraute... |
ORPHA:73272 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal reticulocyte morphology |
ORPHA:2522 |
Small Bowel Atresia |
|
Abdominal distention, Vomiting, Feeding difficulties |
ORPHA:1201 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Eczema, Abnormality of neutrophils, Splenomegaly, Mediastinal lympha... |
ORPHA:379 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia... |
OMIM:102700 |
Grfoma |
|
Poor appetite, Anorexia, Neoplasm of the thymus, Lack of bowel sounds, Hepatomegaly, Episodic abd... |
ORPHA:97261 |
Sheehan Syndrome |
|
Hyponatremia, Dyspareunia, Decreased female libido, Poor appetite, Normochromic anemia, Impotence... |
ORPHA:91355 |
Nephrotic Syndrome, Type 1 |
|
Abdominal distention, Hyperlipidemia, Gastroesophageal reflux, Hypoalbuminemia, Hypoproteinemia |
OMIM:256300 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Feeding difficulties in infancy, Constipation, Prolonged neonatal jaundice,... |
ORPHA:90674 |
Achondrogenesis, Type Ib |
|
Abdominal distention, Inguinal hernia, Umbilical hernia |
OMIM:600972 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Discoid lupus rash, Splenomegal... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Discoid lupus rash, Splenomegal... |
OMIM:233710 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Flexion contracture, Reticulocytope... |
OMIM:227645 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Iron deficiency anemia |
ORPHA:93315 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Ataxia, Anorexia, Hy... |
ORPHA:3008 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Chilblains, Po... |
OMIM:619487 |
Dysostosis Multiplex, Ain-Naz Type |
|
Abdominal distention, Difficulty walking |
OMIM:619345 |
Donohue Syndrome |
|
Abdominal distention, Adipose tissue loss, Cholestasis, Hepatic fibrosis, Pancreatic islet-cell h... |
OMIM:246200 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Short stature, Splenomegaly, Cholestasis, Hepatic fibrosis, Hepatic failure |
OMIM:615630 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia, Hernia, Hiatus hernia |
ORPHA:101009 |
Bachmann-Bupp Syndrome |
|
Feeding difficulties in infancy, Cryptorchidism, Hyperbilirubinemia |
OMIM:619075 |
Acute Generalized Exanthematous Pustulosis |
|
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosino... |
ORPHA:293173 |
Listeriosis |
|
Unusual skin infection, Liver abscess, Ataxia, Abdominal pain, Pustule, Diarrhea, Jaundice, Perit... |
ORPHA:533 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Prominent superficial veins, Intermittent thrombocytopenia, Perianal abscess, Eryth... |
OMIM:612541 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Neutrophilia, Skin rash, Abscess, Elevated circulating C-reactive protein concentra... |
OMIM:612852 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Discoid lupus rash, Splenomegal... |
OMIM:233690 |
Immunodeficiency 36 With Lymphoproliferation |
|
Short stature, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Growth delay, Increase... |
OMIM:616005 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Leukopenia, Vomiting, Lethargy, Hepatomegaly, Abnormal c... |
ORPHA:470 |
Qazi-Markouizos Syndrome |
|
Chronic constipation, Abdominal distention, Cryptorchidism |
ORPHA:3010 |
Biotinidase Deficiency |
|
Hepatomegaly, Ataxia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Feeding diffic... |
OMIM:253260 |
Lig4 Syndrome |
|
Hepatomegaly, Pancytopenia, Telangiectasia of the skin, Leukocytosis, Erythema, Lymphadenopathy, ... |
ORPHA:99812 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Petechiae, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Hepatic failure,... |
OMIM:608013 |
Genetic Transient Congenital Hypothyroidism |
|
Increased circulating thyroglobulin level, Feeding difficulties, Constipation, Prolonged neonatal... |
ORPHA:226316 |
Meckel Syndrome, Type 8 |
|
Abdominal distention, Enlarged kidney |
OMIM:613885 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymph... |
ORPHA:1572 |
Acth Deficiency, Isolated |
|
Jaundice, Cholestasis |
OMIM:201400 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Short stature, Splenomegaly, Growth delay, Intrauterine growth retardation |
OMIM:618541 |
Malignant Peritoneal Mesothelioma |
|
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Ascites |
ORPHA:168811 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Severe postnatal growth retardation, Jaundice, Short stature, Prolonged neonatal jaundice |
OMIM:613038 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Familial Mediterranean Fever |
|
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Abdominal pain... |
OMIM:249100 |
Ovarian Fibroma |
|
Mesenteric cyst, Abdominal pain, Abdominal distention, Peritonitis, Ascites |
ORPHA:314473 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Hepatosplenomegaly, Hypoalbumin... |
ORPHA:367 |
Lassa Fever |
|
Nausea and vomiting, Menometrorrhagia, Abdominal pain, Diarrhea, Jaundice, Increased circulating ... |
ORPHA:99824 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Skin rash, Chilblains, Generalized lymphadenopathy,... |
OMIM:615846 |
Ovarian Fibrothecoma |
|
Metrorrhagia, Abdominal pain, Abdominal distention, Peritonitis, Ascites |
ORPHA:314478 |
Cryoglobulinemic Vasculitis |
|
Viral hepatitis, Hepatomegaly, Cutis marmorata, Splenomegaly, Mediastinal lymphadenopathy, Abnorm... |
ORPHA:91138 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Abdominal distention, Protuberant abdomen |
OMIM:277300 |
Developmental And Epileptic Encephalopathy 75 |
|
Decreased liver function, Prolonged neonatal jaundice |
OMIM:618437 |
Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Multiple joint contractures, Lipoatrophy, Chilblains, Cutis marmor... |
ORPHA:51 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Maculopapular exanthema, Splenomegaly, Hepatitis, He... |
ORPHA:781 |
Hermansky-Pudlak Syndrome 2 |
|
Chronic oral candidiasis, Absent platelet dense granules, Hepatomegaly, Decreased CD4:CD8 ratio, ... |
OMIM:608233 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto... |
OMIM:614700 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Micronodular cirrhosis... |
ORPHA:98907 |
Kawasaki Disease |
|
Nausea and vomiting, Skin rash, Abdominal pain, Leukocytosis, Diarrhea, Jaundice, Hepatitis, Cerv... |
ORPHA:2331 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... |
OMIM:208540 |
Hurler Syndrome |
|
Hepatomegaly, Inguinal hernia, Splenomegaly, Flexion contracture, Enlarged tonsils, Hepatosplenom... |
OMIM:607014 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Decr... |
ORPHA:99867 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Macrovesicular hepatic steatosis... |
OMIM:617303 |
Multiple Myeloma |
|
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... |
ORPHA:29073 |
Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count |
OMIM:618394 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Nausea and vomiting, Abnormal hemoglobin, Feeding difficulties in infancy, Cryptorchidism, Flexio... |
ORPHA:847 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Abdominal distention, Chronic diarrhea, Decreased inte... |
OMIM:615237 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, ... |
ORPHA:464329 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Gastroesophageal reflux, Hepatic fibrosis, Elevat... |
OMIM:619534 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Anorexia, Elevated circulating C-reactive protein concentr... |
OMIM:619381 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Prominent veins on trunk, Thin skin, Cirrhosis,... |
ORPHA:79083 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Stillbirth, Hepati... |
OMIM:615415 |
Glucose-Galactose Malabsorption |
|
Hypercalcemia, Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting, ... |
ORPHA:35710 |
Galactokinase Deficiency |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hepatosplenomegaly, Increase... |
ORPHA:79237 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Enlarged kidney, Umbilical hernia, Inguinal hernia, Protuberant abdomen |
OMIM:618272 |
Glucose/Galactose Malabsorption |
|
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea |
OMIM:606824 |
Zellweger Syndrome |
|
Hepatomegaly, Jaundice, Hepatic failure, Short stature |
ORPHA:912 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abdominal distention, Hepatosplenomegaly |
ORPHA:93352 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Cutis marmorata, Hepatic fibrosis, Portal hypertension |
OMIM:616589 |
Saccharopinuria |
|
Hypercystinemia, Hyperammonemia, Gait ataxia, Abnormality of circulating enzyme level, Elevated p... |
ORPHA:3124 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Ataxia, Bone-marrow foam cells, Fetal ascites, Low cholesterol esterification rate,... |
ORPHA:646 |
Cap Polyposis |
|
Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation |
ORPHA:160148 |
Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Thrombocytopenia, Ascites, Petechiae |
OMIM:617397 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... |
ORPHA:139507 |
Poikiloderma With Neutropenia |
|
Skin rash, Short stature, Elevated circulating creatine kinase concentration, Splenomegaly, Telan... |
OMIM:604173 |
Typhoid |
|
Splenomegaly, Skin rash, Hepatomegaly |
ORPHA:99745 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Hyperkalemia, Hepatitis, Prolonged neonatal jaundice |
ORPHA:199296 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Hepatomegaly, Skin rash, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenop... |
ORPHA:809 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Abnormality of circulating enzyme level, Anemia |
ORPHA:93598 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Pancreatic fibrosis, Short stature, Pancreatic cysts, Conjugated hyperb... |
OMIM:208500 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, ... |
ORPHA:77293 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis |
OMIM:618042 |
Hereditary Orotic Aciduria |
|
Splenomegaly, Impaired T cell function, Anemia |
ORPHA:30 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceri... |
OMIM:269700 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Feeding difficulties in infancy, Abdominal distention, Gait ataxia, Progressive gait ataxia, Tip-... |
ORPHA:309256 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Growth delay, Anemia, Hypocalcemic seizures |
OMIM:612301 |
Immunodeficiency 55 |
|
Absent natural killer cells, Recurrent skin infections, Eczema, Short stature, Postnatal growth r... |
OMIM:617827 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Intestinal obstruction, Fasciitis, Skin rash, Elevated circulating C-reactive protein concentrati... |
ORPHA:32960 |
Smith-Lemli-Opitz Syndrome |
|
Hepatic steatosis, Hepatomegaly, Eczema, Splenomegaly, Gastrointestinal dysmotility, Abdominal di... |
OMIM:270400 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Hepatomegaly, Liver abscess, Discoid lupus rash, Splenomegal... |
OMIM:306400 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Thin skin, Hepatic steatosis, Pancreatitis |
ORPHA:2348 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Progressive cerebellar ataxia, Prolonged neonatal jaundice, Bowel incontinence, Dysphagia |
OMIM:618868 |
Acute Intermittent Porphyria |
|
Nausea and vomiting, Hyponatremia, Abnormal circulating enzyme concentration or activity, Abdomin... |
ORPHA:79276 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Skin rash, Anorexia, Oral-ph... |
ORPHA:95455 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Prolonged neonatal jaundice |
OMIM:618828 |
Thyroid Hypoplasia |
|
Abdominal distention, Jaundice, Constipation |
ORPHA:95720 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... |
ORPHA:86843 |
Congenital Tufting Enteropathy |
|
Abdominal distention, Chronic diarrhea, Secretory diarrhea, Cholestatic liver disease, Vomiting |
ORPHA:92050 |
North American Indian Childhood Cirrhosis |
|
Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice |
OMIM:604901 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Abnormal abdomen ... |
OMIM:216360 |
Abcd Syndrome |
|
Neonatal death, Polycythemia |
OMIM:600501 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
3-Methylglutaconic Aciduria, Type Viii |
|
Growth delay, Jaundice, Neonatal death, Neutropenia |
OMIM:617248 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Severe short stature, Splenomegaly, Vacuolated lymphocytes, Angiokeratoma corporis ... |
OMIM:230500 |
Sarcoidosis, Susceptibility To, 2 |
|
Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Hepatomegaly |
OMIM:612387 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Inguinal hernia, Elbow contracture, Abdominal distention, Feeding difficulties, Gastroesophageal ... |
OMIM:620275 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Splenomegaly, Flexion contracture, Reduced leukocyte beta-glucuronidase activity, P... |
OMIM:253220 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Flexion contracture, Gait disturbance, Protuberant abdomen |
OMIM:613330 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Abdominal distention, Secretory diarrhea, Hypochloremia, Hypokalemia, Increased cir... |
OMIM:214700 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Vomiting, Neonatal hyperbilirubinemia, Hiatus hernia |
OMIM:609727 |
Aredyld Syndrome |
|
Splenomegaly, Intrauterine growth retardation, Short stature, Hepatomegaly |
ORPHA:1133 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Feeding difficulties in infancy, Abdominal distention,... |
OMIM:218700 |
Lathosterolosis |
|
Hepatomegaly, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morphology, Intrau... |
ORPHA:46059 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Mild postnatal growth retardation, Aplasia/Hypoplasia of the pancreas, Abnormal liv... |
ORPHA:456312 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Inguinal hernia, Increased iduronate sulfatase level, Increased serum beta-hexosami... |
OMIM:252500 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Diffuse hepatic steatosis, Decreased liver function, Anemia |
ORPHA:436271 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Annular pancreas, Reticulocytopenia... |
OMIM:227646 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypophosphatemia, Elevated circulating alkaline phosphatase concentration, Hypocalcemia, Difficul... |
OMIM:264700 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Cryptorchidism, Chronic constipation, Neutropenia, Neonata... |
ORPHA:163956 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Unsteady gait, Feeding difficultie... |
OMIM:214100 |
Joubert Syndrome 8 |
|
Hepatomegaly, Prolonged neonatal jaundice |
OMIM:612291 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Chronic active hepatitis, Cutis marmorata, Erythema nodosum, Biliary cirrhosis... |
ORPHA:289390 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Elevated circulating creatine kinase concentration, Abdominal distention, Scarring alopecia of sc... |
ORPHA:158684 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Splenomegaly, Cardiomegaly |
OMIM:252920 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Increased circ... |
ORPHA:465508 |
Polycythemia Vera |
|
Hepatomegaly, Portal hypertension, Pruritus, Splenomegaly, Portal vein thrombosis, Acute leukemia... |
ORPHA:729 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
Distal Xq28 Microduplication Syndrome |
|
Tip-toe gait, Neonatal hyperbilirubinemia |
ORPHA:293939 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Growth delay, Delayed puberty, Thrombocytopenia |
ORPHA:77261 |
American Trypanosomiasis |
|
Splenomegaly, Skin rash, Lymphadenopathy, Hepatomegaly |
ORPHA:3386 |
Vitamin D-Dependent Rickets, Type 2A |
|
Elevated circulating alkaline phosphatase concentration, Difficulty walking, Hypophosphatemia, Pr... |
OMIM:277440 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Inguinal hernia, Ataxia, Cardiomegaly, Adenoiditis, Splenomegaly, Flexion contractu... |
ORPHA:581 |
Pachydermoperiostosis |
|
Hepatomegaly, Acne, Seborrheic dermatitis, Splenomegaly, Eczematoid dermatitis, Anemia |
ORPHA:2796 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperlipidemia, Hyperuricemia, Protuberant abdomen, ... |
OMIM:232200 |
Prolidase Deficiency |
|
Hepatomegaly, Pruritus, Splenomegaly, Crusting erythematous dermatitis, Erythema, Thin skin, Cuta... |
ORPHA:742 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, Lymphaden... |
OMIM:260920 |
Whipple Disease |
|
Hyponatremia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Anemia |
ORPHA:3452 |
Hepatoerythropoietic Porphyria |
|
Hemolytic anemia, Recurrent bacterial skin infections, Abnormal circulating enzyme concentration ... |
ORPHA:95159 |
Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... |
ORPHA:33402 |
Sarcoidosis |
|
Hemolytic anemia, Hepatomegaly, Maculopapular exanthema, Eosinophilia, Portal hypertension, Hyper... |
ORPHA:797 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:228305 |
Mucolipidosis Type Ii |
|
Hip contracture, Inguinal hernia, Splenomegaly, Inability to walk, Knee flexion contracture, Hepa... |
ORPHA:576 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Abdominal distention, Malnutrition, Gastroparesis, Abdominal pain |
OMIM:277320 |
African Trypanosomiasis |
|
Hepatomegaly, Akinesia, Abnormality of the menstrual cycle, Pruritus, Splenomegaly, Diarrhea, Jau... |
ORPHA:3385 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Lethargy, Abnormal circulating thyroglobulin level, Prolonged neonatal jaundice |
ORPHA:99832 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Increased hepatocellular lipid droplets, Decreased liver function, Anemia |
OMIM:220110 |
Colonic Atresia |
|
Omphalocele, Abdominal distention, Abnormal mesentery morphology, Abdominal situs inversus |
ORPHA:1198 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Cyanosis, Elevated circulating alanine aminotransferase concentration, Low plasma c... |
OMIM:261680 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S... |
OMIM:610199 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Skin rash, Anorexia, Abdominal pain, Elevated circulating C-reactive protein c... |
ORPHA:91500 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Hypercalcemia, Diarrhea, Jaundice, Erythema,... |
ORPHA:913 |
Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Splenomegaly, Neutropenia |
OMIM:617050 |
Metachromatic Leukodystrophy, Adult Form |
|
Bowel incontinence, Abdominal distention, Progressive gait ataxia, Cholecystitis, Difficulty walk... |
ORPHA:309271 |
Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Hepatomegaly, Inguinal hernia, Splenomegaly, Periportal fibrosis, Protuberant abdome... |
OMIM:269860 |
Diaphanospondylodysostosis |
|
Inguinal hernia, Abnormal liver lobulation, Protuberant abdomen, Webbed neck, Enlarged kidney |
OMIM:608022 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... |
OMIM:263200 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Short stature, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Hepatic... |
OMIM:301072 |
Alternating Hemiplegia Of Childhood |
|
Ataxia, Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Gastrointestinal dysmotility, ... |
ORPHA:2131 |
Macrocephaly/Autism Syndrome |
|
Splenomegaly, Lymphopenia, Hepatomegaly |
OMIM:605309 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Erythema, Hepatomegaly |
ORPHA:33577 |
Gonadoblastoma |
|
Abdominal distention, Abdominal pain |
ORPHA:206484 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyper... |
ORPHA:247585 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder, Purpura |
OMIM:254450 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Short stature, Telangiectasia of the skin, Abnormality of... |
ORPHA:1775 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Progeroid facial appearance, Postnatal growth retard... |
ORPHA:90321 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Elevated hepatic transaminase, Hepatic steatosis, Broad-based gait, Ataxia, Abdominal pain, Abnor... |
OMIM:619475 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or ... |
ORPHA:565612 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... |
OMIM:203700 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Short stature, Splenomegaly, Spherocytosis, Growth delay |
ORPHA:251066 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Abdominal distention, Progressive gait ataxia, Cholecystitis |
ORPHA:309263 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly |
OMIM:231005 |
Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia, Feeding difficulties |
ORPHA:95232 |
Meckel Syndrome 14 |
|
Abdominal distention, Cyanosis, Hepatic fibrosis, Protuberant abdomen |
OMIM:619879 |
Gm1-Gangliosidosis, Type Ii |
|
Splenomegaly, Decreased beta-galactosidase activity, Sea-blue histiocytosis, Hepatomegaly |
OMIM:230600 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Cryptorchidism, Gait disturbance, Protuberant abdomen, Decreased circulating IgA level |
ORPHA:457485 |
Medullary Thyroid Carcinoma |
|
Abnormal liver parenchyma morphology, Lymphadenopathy |
ORPHA:1332 |
Sotos Syndrome |
|
Cryptorchidism, Feeding difficulties, Gastroesophageal reflux, Prolonged neonatal jaundice, Episo... |
OMIM:117550 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Elevated alkaline phosphatase of bone origin, Hypophosphatemia, Hypocalcemia, Difficulty walking,... |
ORPHA:289157 |
Argininemia |
|
Hepatomegaly, Postnatal growth retardation, Micronodular cirrhosis, Cholestasis, Hyperammonemia, ... |
OMIM:207800 |
Ovarian Hyperstimulation Syndrome |
|
Nausea and vomiting, Abdominal pain, Enlarged polycystic ovaries, Abdominal distention, Ascites, ... |
ORPHA:64739 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Abdominal distention, Diarrhea, Mal... |
OMIM:155310 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating aspartate aminot... |
OMIM:614921 |
Familial Tumoral Calcinosis |
|
Splenomegaly, Erythema, Skin rash, Hepatomegaly |
ORPHA:53715 |
Mosaic Trisomy 9 |
|
Asplenia, Intrauterine growth retardation, Abnormal liver lobulation, Webbed neck |
ORPHA:99776 |
Oculogastrointestinal Muscular Dystrophy |
|
Intestinal pseudo-obstruction, Gastroparesis, Abdominal distention |
ORPHA:1876 |
Microvillus Inclusion Disease |
|
Pruritus, Abdominal distention, Diarrhea |
ORPHA:2290 |
Platyspondylic Dysplasia, Torrance Type |
|
Abdominal distention |
ORPHA:85166 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Aplasia of the thymus, Hydrocele testis, Gastroesophageal reflux, Unconjugated hyperbilirubinemia... |
OMIM:620186 |
Johanson-Blizzard Syndrome |
|
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Porta... |
OMIM:243800 |
Scheie Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:93474 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Jaundice, Hyperkalemia, Vomiting, Macroorchidism |
ORPHA:90790 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia, Feeding difficulties |
OMIM:613986 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Abnormal circulating enzyme concentration or activity, Short stature,... |
ORPHA:2785 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Intrauterine growth retardation, Thrombocytopenia, Hepatomegaly |
OMIM:619005 |
Thyroid Ectopia |
|
Abdominal distention, Jaundice, Umbilical hernia, Constipation |
ORPHA:95712 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocr... |
ORPHA:93111 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Inguinal hernia, Protuberant abdomen |
OMIM:184250 |
Doors Syndrome |
|
Thrombocytosis |
ORPHA:79500 |
Familial Visceral Myopathy |
|
Abdominal distention, Umbilical hernia, Abdominal situs inversus, Camptodactyly of finger |
ORPHA:2604 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Protuberant abdomen |
OMIM:617102 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Abdominal distention, Hypoperistalsis |
OMIM:619365 |
Glutaric Acidemia Type 3 |
|
Lethargy, Abnormality of circulating enzyme level, Elevated circulating glutaric acid concentration |
ORPHA:35706 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Growth delay, Hypocalcemia, Hypophosphatemia, Bruisi... |
ORPHA:667 |
Fraser Syndrome 2 |
|
Abdominal distention, Hypoplasia of the thymus |
OMIM:617666 |
Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Increased serum zinc, Skin rash |
OMIM:601979 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Abdominal distention, Hypoka... |
ORPHA:508 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Malnutrition, Pancreatic calcification, Chronic calcifying p... |
ORPHA:103918 |
Occipital Horn Syndrome |
|
Inguinal hernia, Gastroparesis, Femoral hernia, Scarring, Hiatus hernia, Jaundice, Hepatitis, Cho... |
ORPHA:198 |
Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Hypercalcemia, Abdominal distention, Diarrhea, Cervical lymp... |
ORPHA:653 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Hypogonadotropic hypogonadism, Feeding difficulties in infancy, Constipation, Prolonged neonatal ... |
ORPHA:226307 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Cyclic neutropenia, Spider hemangioma, Chronic pancreatitis, Hyperlipidemia, Hyperu... |
OMIM:232240 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Short stature, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Cervical lymph... |
OMIM:602782 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Camptodactyly, Protuberant abdomen, Knee flexion contracture |
OMIM:618019 |
Fibrochondrogenesis 2 |
|
Protuberant abdomen |
OMIM:614524 |
Greenberg Dysplasia |
|
Hepatomegaly, Hepatic calcification, Hepatosplenomegaly, Pancreatic islet-cell hyperplasia, Bone ... |
OMIM:215140 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... |
OMIM:232300 |
Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy |
OMIM:616028 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Poor wound healing, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, An... |
ORPHA:2072 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Shoulder flexion contracture, Cryptorchidism, Flexion contracture, Elbow flexion... |
OMIM:210710 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Cryptorchidism, Leukopenia, Abnorma... |
ORPHA:84 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Inguinal hernia, Malformation of the hepatic ductal plate, Ectodermal dysplasia, He... |
OMIM:218330 |
Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular carcinoma, Cholestasis, Reduc... |
OMIM:118450 |
Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Short stature, Elevated circulating C-reactive protein concentration,... |
ORPHA:355 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Polycythemia, Hepatic hemangioma, Pancreatic cysts |
OMIM:193300 |
Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Abdominal distention, Secretory diarrhea |
OMIM:270420 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Nausea and vomiting, Omphalocele, Hypoperistalsis, Abdominal distention, Cryptorchidism, Umbilica... |
ORPHA:2241 |
Arima Syndrome |
|
Hepatomegaly, Growth delay, Hepatic fibrosis, Cirrhosis, Hepatic steatosis, Anemia |
OMIM:243910 |
X-Linked Acrogigantism |
|
Hypogonadism, Abdominal distention, Ataxia |
ORPHA:300373 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Enlarged kidney |
OMIM:200995 |
Citrullinemia, Classic |
|
Hepatomegaly, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis, Elevat... |
OMIM:215700 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypouricemia, Elevated circulating al... |
OMIM:616026 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Inguinal hernia, Feeding difficulties in infanc... |
ORPHA:565 |
Camurati-Engelmann Disease |
|
Hepatomegaly, Splenomegaly, Abnormal subcutaneous fat tissue distribution, Leukopenia, Delayed pu... |
ORPHA:1328 |
Schneckenbecken Dysplasia |
|
Umbilical hernia, Protuberant abdomen |
OMIM:269250 |
Thanatophoric Dysplasia, Type I |
|
Protuberant abdomen |
OMIM:187600 |
Fibrochondrogenesis 1 |
|
Omphalocele, Joint contracture of the hand, Protuberant abdomen, Camptodactyly |
OMIM:228520 |
Viss Syndrome |
|
Inguinal hernia, Prominent superficial blood vessels, Eczema, Abdominal distention, Chronic diarr... |
OMIM:619472 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Nausea and vomiting, Abdominal distention, Enamel hypoplasia, Recurrent skin infections |
ORPHA:79403 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated hemogl... |
OMIM:619127 |
Dyggve-Melchior-Clausen Disease |
|
Inability to walk, Difficulty walking, Abnormal circulating enzyme concentration or activity, Pro... |
ORPHA:239 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Superficial dermal perivascular inflammatory infiltrate, ... |
ORPHA:83617 |
Opsismodysplasia |
|
Protuberant abdomen, Hypophosphatemia |
OMIM:258480 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Elevated hepatic transaminase, Cryptorchidism, Jaundice, Feeding difficulties, Hypogonadism |
OMIM:614231 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cyanosis, Nail bed telangiectasia, Hematemesis, Fingerpad telangiect... |
OMIM:600376 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Protuberant abdomen |
OMIM:151210 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Omphalocele, Hepatomegaly, Interphalangeal joint contracture of finger, Cryptorchidism, Flexion c... |
ORPHA:96334 |
Cerebrotendinous Xanthomatosis |
|
Abnormal circulating enzyme concentration or activity, Ataxia, Prematurely aged appearance, Chron... |
ORPHA:909 |
Blau Syndrome |
|
Skin rash, Erythema nodosum, Splenomegaly, Erythema, Lymphadenopathy, Abnormality of the liver, A... |
ORPHA:90340 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reduced subcutaneous adipose tis... |
OMIM:608594 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Webbed neck |
OMIM:612918 |
Tetrasomy 9P |
|
Absent gallbladder, Abnormal dental enamel morphology, Cryptorchidism, Jaundice, Biliary atresia,... |
ORPHA:3310 |
Sotos Syndrome |
|
Hip contracture, Inguinal hernia, Hypercalcemia, Ankle flexion contracture, Cryptorchidism, Bilat... |
ORPHA:821 |
Lethal Kniest-Like Dysplasia |
|
Protuberant abdomen |
ORPHA:2347 |
Achondrogenesis, Type Ii |
|
Protuberant abdomen |
OMIM:200610 |
Atelosteogenesis Type Ii |
|
Elbow flexion contracture, Protuberant abdomen, Camptodactyly |
ORPHA:56304 |
Currarino Syndrome |
|
Perianal abscess, Gastrointestinal obstruction, Chronic constipation, Abdominal distention |
OMIM:176450 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Abdominal distention, Peritonitis |
OMIM:619351 |
Arboleda-Tham Syndrome |
|
Bilateral cryptorchidism, Feeding difficulties, Webbed neck, Gastroesophageal reflux, Gait imbala... |
OMIM:616268 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
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Abdominal distention, Inguinal hernia |
OMIM:271520 |
Digeorge Syndrome |
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Acne, Short stature, Seborrheic dermatitis, Splenomegaly, Anemia, Abnormal thymus morphology, Hyp... |
OMIM:188400 |
Ectodermal Dysplasia And Immunodeficiency 2 |
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Anhidrotic ectodermal dysplasia, Splenomegaly, Hepatomegaly |
OMIM:612132 |
Neurooculorenal Syndrome |
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Postnatal growth retardation, Conjugated hyperbilirubinemia |
OMIM:620305 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
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Gastrointestinal hemorrhage, Conjunctival telangiectasia, Cyanosis, Telangiectasia of the skin, N... |
OMIM:187300 |
Achondrogenesis, Type Ia |
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Protuberant abdomen |
OMIM:200600 |
Atelosteogenesis, Type I |
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Cryptorchidism, Protuberant abdomen |
OMIM:108720 |
Cystic Fibrosis |
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Hepatomegaly, Biliary cirrhosis, Hepatosplenomegaly, Cirrhosis, Pancreatitis, Exocrine pancreatic... |
OMIM:219700 |
Neu-Laxova Syndrome 2 |
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Protuberant abdomen |
OMIM:616038 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
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Feeding difficulties, Flexion contracture, Protuberant abdomen, Tube feeding |
OMIM:619479 |
Aspartylglucosaminuria |
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Hepatomegaly, Acne, Short stature, Vacuolated lymphocytes, Angiokeratoma corporis diffusum, Neutr... |
OMIM:208400 |
Ctcf-Related Neurodevelopmental Disorder |
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Inguinal hernia, Nasogastric tube feeding in infancy, Cryptorchidism, Feeding difficulties, Gastr... |
ORPHA:363611 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
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Abdominal distention |
OMIM:619362 |
Weill-Marchesani Syndrome 2 |
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Elbow flexion contracture, Umbilical hernia, Flexion contracture of toe, Protuberant abdomen |
OMIM:608328 |
Pyknoachondrogenesis |
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Abdominal distention, Webbed neck |
ORPHA:3003 |
Congenital Disorder Of Glycosylation, Type Iim |
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Enamel hypoplasia, Gastroesophageal reflux, Neonatal hyperbilirubinemia |
OMIM:300896 |
Atresia Of Urethra |
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Abdominal distention, Ascites |
ORPHA:105 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Omphalocele, Abdominal distention, Congenital hepatic fibrosis, Cryptorchidism |
ORPHA:93271 |
Blomstrand Lethal Chondrodysplasia |
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Protuberant abdomen |
ORPHA:50945 |
Mowat-Wilson Syndrome |
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Abdominal distention, Constipation, Vomiting, Cryptorchidism |
OMIM:235730 |
Pmm2-Cdg |
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Elevated hepatic transaminase, Abnormal subcutaneous fat tissue distribution, Reduced thyroxin-bi... |
ORPHA:79318 |