| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
| Erythrocytosis, Familial, 6 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
| Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
| Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
| Diamond-Blackfan Anemia 19 |
|
Anemia, Erythroid hypoplasia, Steroid-responsive anemia |
OMIM:618312 |
| Erythrocytosis, Familial, 5 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617907 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir... |
OMIM:206100 |
| Iron Overload, Susceptibility To |
|
Elevated transferrin saturation, Elevated circulating hepcidin concentration, Elevated hepatic ir... |
OMIM:620121 |
| Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
| Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
| Hemochromatosis, Type 5 |
|
Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... |
OMIM:615517 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Increased circulating ferritin concentration, Sideroblastic anemia, Pallor, Splenomegaly, Anemia,... |
OMIM:615234 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration |
ORPHA:231249 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... |
OMIM:616860 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Reduced r... |
ORPHA:766 |
| Erythrocytosis, Familial, 4 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:611783 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... |
OMIM:205950 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Pallor, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... |
ORPHA:300298 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Abnormality of iron homeostasis, Elevated circulating hepatic transaminase concentration,... |
ORPHA:75563 |
| Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Elevated... |
ORPHA:53693 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Increased circulating iron concentration, Elevated circulating hepatic transami... |
OMIM:613313 |
| Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Anemia of inadequate production, Macrocytic anemia, Anemic pallor, Hypochro... |
OMIM:300751 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... |
OMIM:603902 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
| Dietary Iron Overload Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... |
ORPHA:139507 |
| Beta-Thalassemia Intermedia |
|
Abnormality of iron homeostasis, Cholelithiasis, Proximal tubulopathy, Extramedullary hematopoies... |
ORPHA:231222 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytos... |
OMIM:615631 |
| Gracile Syndrome |
|
Cholestasis, Increased circulating iron concentration, Increased serum pyruvate, Increased circul... |
OMIM:603358 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Hemochromatosis, Neonatal |
|
Hepatic fibrosis, Increased circulating iron concentration, Hepatic failure, Increased circulatin... |
OMIM:231100 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega... |
ORPHA:251380 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Increased circul... |
ORPHA:79230 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Porphyria Cutanea Tarda |
|
Periportal fibrosis, Increased circulating iron concentration, Portal inflammation, Elevated circ... |
ORPHA:101330 |
| Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Hepatic failure, Portal fibrosis, Elevated circulating hepatic transaminase con... |
OMIM:616278 |
| Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
| Neonatal Hemochromatosis |
|
Prolonged neonatal jaundice, Increased circulating iron concentration, Congenital hepatic fibrosi... |
ORPHA:446 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... |
ORPHA:98870 |
| Dehydrated Hereditary Stomatocytosis |
|
Neonatal hyperbilirubinemia, Anemia of inadequate production, Increased circulating hemoglobin co... |
ORPHA:3202 |
| Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
| Hemochromatosis, Type 3 |
|
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... |
OMIM:604250 |
| Beta-Thalassemia |
|
Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal... |
ORPHA:848 |
| Hypermanganesemia With Dystonia 1 |
|
Elevated circulating hepatic transaminase concentration, Polycythemia, Decreased liver function, ... |
OMIM:613280 |
| Rh-Null, Amorph Type |
|
Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia |
OMIM:617970 |
| Aceruloplasminemia |
|
Decreased circulating iron concentration, Abnormal pancreas morphology, Increased circulating fer... |
ORPHA:48818 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Elevated circulating C-reactive protein concentration, Anemia, Leukocytosis |
OMIM:619398 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... |
ORPHA:86841 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
| Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
| Hemochromatosis, Type 4 |
|
Cardiomyopathy, Increased circulating ferritin concentration, Hepatic steatosis, Hepatomegaly, Ci... |
OMIM:606069 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubin... |
OMIM:613673 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration |
ORPHA:2843 |
| Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Splenomegaly, Reticulocytosis, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Ane... |
OMIM:224120 |
| Heinz Body Anemias |
|
Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia |
OMIM:140700 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
| Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... |
OMIM:133100 |
| Diamond-Blackfan Anemia 13 |
|
Normocytic anemia, Elevated red cell adenosine deaminase activity |
OMIM:615909 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Aminoaciduria, Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic... |
OMIM:614946 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
| Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reduced erythrocyte adenylate kinase activity |
OMIM:612631 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly |
OMIM:618852 |
| Atransferrinemia |
|
Hypochromic anemia, Abnormality of the liver, Atransferrinemia |
OMIM:209300 |
| Protoporphyria, Erythropoietic, 2 |
|
Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration |
OMIM:618015 |
| Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Ell... |
OMIM:300835 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
| Hemochromatosis, Type 2A |
|
Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Increased circu... |
OMIM:602390 |
| Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of inadequate pr... |
OMIM:237800 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly, Jaundice |
OMIM:613977 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia, Decreased circulating carnitine concentration |
OMIM:611283 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Hypertriglyceridemia,... |
OMIM:608898 |
| Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Abnormality of iron homeostasis, Reduced hemoglobin A, Extramedullary hematopoi... |
ORPHA:231226 |
| Glutathione Peroxidase Deficiency |
|
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies |
OMIM:614164 |
| Rh Deficiency Syndrome |
|
Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Reduced haptoglobin leve... |
ORPHA:71275 |
| Beta-Thalassemia Major |
|
Hepatic fibrosis, Abnormality of iron homeostasis, Reduced hemoglobin A, Extramedullary hematopoi... |
ORPHA:231214 |
| Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
| X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia |
ORPHA:2802 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Decreased liver... |
OMIM:617021 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Osteoporosis, Increased LDL cholesterol concentration, Gout, Hypertriglyceridemia |
OMIM:610947 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop... |
OMIM:212050 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr... |
ORPHA:309854 |
| Glycine N-Methyltransferase Deficiency |
|
Hepatomegaly, Hypermethioninemia, Elevated circulating hepatic transaminase concentration |
OMIM:606664 |
| Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
| Glycogen Storage Disease Vi |
|
Failure to thrive in infancy, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:232700 |
| Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ... |
ORPHA:209919 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, With Or Without Cerebellar Ataxia |
|
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... |
OMIM:310490 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Hypoalphalipoproteinemia, Primary, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:604091 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Pallor, Cholecysti... |
OMIM:266200 |
| Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Pallor, Decreased circulating ferritin concentration, Hypochromic microcy... |
ORPHA:54028 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... |
OMIM:185000 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Orotic Aciduria |
|
Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Hypochromia, Po... |
OMIM:258900 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... |
OMIM:616959 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Microcytic anemia, Hepatosplenomegaly, Pancytopenia, Pyoderma gangrenosum, Thrombocytosis, Elevat... |
OMIM:604416 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Autosomal Erythropoietic Protoporphyria |
|
Erythema, Cholelithiasis, Decreased liver function, Microcytic anemia, Abnormal circulating porph... |
ORPHA:79278 |
| Aceruloplasminemia |
|
Anemia, Decreased circulating iron concentration, Aceruloplasminemia, Increased circulating ferri... |
OMIM:604290 |
| Reticuloendotheliosis, X-Linked |
|
Anemia, Jaundice, Hepatosplenomegaly |
OMIM:312500 |
| Fish-Eye Disease |
|
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... |
OMIM:136120 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Hyperferritinemia With Or Without Cataract |
|
Abnormal transferrin saturation, Decreased transferrin saturation, Abnormal circulating iron conc... |
OMIM:600886 |
| Protoporphyria, Erythropoietic, X-Linked |
|
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, ... |
OMIM:300752 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomyopathy, Increased circulating ferritin concentration, Portal hypertension, Splenomegaly, ... |
ORPHA:465508 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Nephrocalcinosis, Failure to thrive, Hepatosplenomegaly, Distal renal tubular acidosis, Reticuloc... |
OMIM:611590 |
| Sickle Cell Anemia |
|
Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen... |
ORPHA:232 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
| Autoimmune Lymphoproliferative Syndrome |
|
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Splenomegaly, Autoimmune... |
OMIM:601859 |
| Leishmaniasis |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Skin ulcer, Pancytopeni... |
ORPHA:507 |
| Familial Pseudohyperkalemia |
|
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... |
ORPHA:90044 |
| Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production |
OMIM:153550 |
| Elliptocytosis 1 |
|
Pallor, Splenomegaly, Elliptocytosis, Jaundice, Hemolytic anemia |
OMIM:611804 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... |
OMIM:619041 |
| Hemochromatosis, Type 1 |
|
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... |
OMIM:235200 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Increased circula... |
OMIM:194380 |
| Trichohepatoenteric Syndrome 2 |
|
Decreased circulating iron concentration, Failure to thrive, Villous atrophy, Cirrhosis, Chronic ... |
OMIM:614602 |
| Trichohepatoenteric Syndrome 1 |
|
Cholestasis, Ventricular septal defect, Cirrhosis, Hepatomegaly, Jaundice, Hypospadias, Galactosu... |
OMIM:222470 |
| Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Failure to thrive, Pancytopenia, Abnormality of the liver, Mac... |
ORPHA:2169 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte glutathione reductase... |
OMIM:618660 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Failure to thrive in infancy, Hypertriglyceridemia |
OMIM:619175 |
| Mednik Syndrome |
|
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... |
ORPHA:171851 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Elevated urinary 3-hydroxybutyric acid, ... |
ORPHA:42 |
| Lipase Deficiency, Combined |
|
Lipodystrophy, Hypertriglyceridemia |
OMIM:246650 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Pallor, An... |
OMIM:301310 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Gastrointestina... |
ORPHA:298 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Gaisböck Syndrome |
|
Increased red blood cell count, Nephrocalcinosis, Peptic ulcer, Increased mean corpuscular hemogl... |
ORPHA:90041 |
| Congenital Atransferrinemia |
|
Anemia, Abnormality of the pancreas |
ORPHA:1195 |
| Refractory Celiac Disease |
|
Hypoalbuminemia, Normocytic anemia, Elevated circulating hepatic transaminase concentration, Hypo... |
ORPHA:398063 |
| Acute Myelomonocytic Leukemia |
|
Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia |
ORPHA:517 |
| Microphthalmia/Coloboma 5 |
|
Holoprosencephaly, Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
| Erythrocytosis, Familial, 2 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:263400 |
| Congenital Disorder Of Glycosylation, Type Iiq |
|
Small pituitary gland, Decreased circulating ceruloplasmin concentration, Decreased circulating c... |
OMIM:617395 |
| Liver Disease, Severe Congenital |
|
Portal inflammation, Dilatation of the ventricular cavity, Hyperbilirubinemia, Hepatic steatosis,... |
OMIM:619991 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Hypomagnesemia,... |
OMIM:175500 |
| Cog2-Cdg |
|
Small pituitary gland, Decreased circulating ceruloplasmin concentration, Decreased circulating c... |
ORPHA:435934 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase... |
OMIM:608600 |
| Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
| Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
| 6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
| Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
| Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Obesity, Childhood-onset truncal obesity, Increased adipose tissue, Hypertriglyceridemia |
ORPHA:71529 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Reduced delayed hypersensitivity, Petechiae, Chronic noninfectious lymphadenopathy, Splenomegaly,... |
OMIM:603909 |
| Erythroleukemia, Familial, Susceptibility To |
|
Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ... |
OMIM:133180 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Irida Syndrome |
|
Intrahepatic cholestasis, Decreased circulating copper concentration, Pallor |
ORPHA:209981 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hypoalbuminemia, Microcytic anemia, Hepatic steatosis, Pancreatitis, Elevated circulating alanine... |
OMIM:618805 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
| Hb Bart'S Hydrops Fetalis |
|
Pallor, Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly |
ORPHA:163596 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Homocystinuria, Increased mean corpuscular volume, Methylmalonic aciduria, Decreased methylmalony... |
OMIM:277410 |
| Nephronophthisis |
|
Anemia |
ORPHA:655 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to thrive, In... |
OMIM:619868 |
| Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Portal hypertension, Splenomegaly... |
ORPHA:824 |
| Majeed Syndrome |
|
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Anemia of inadequate production, De... |
OMIM:609628 |
| Alpha-Thalassemia |
|
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... |
ORPHA:846 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:300946 |
| Shwachman-Diamond Syndrome |
|
Aplastic anemia, Hypopituitarism, Pancytopenia, Increased serum bile acid concentration, Impaired... |
ORPHA:811 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Increased circulating lactate dehydrogenase concentration, Pan... |
OMIM:613839 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Elbow flexion contracture, Increased LDL cholesterol concentration, Elevated circulating creatine... |
OMIM:616516 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia... |
OMIM:620481 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... |
OMIM:614480 |
| Malaria |
|
Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubinemia, Thrombocytopenia |
ORPHA:673 |
| Copper Deficiency, Familial Benign |
|
Anemia, Decreased circulating copper concentration, Failure to thrive |
OMIM:121270 |
| Myelofibrosis |
|
Hemophagocytosis, Extramedullary hematopoiesis, Pallor, Splenomegaly, Hepatomegaly, Myeloprolifer... |
OMIM:254450 |
| Cold Agglutinin Disease |
|
Pallor, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia |
ORPHA:56425 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Microcytic anemia, Hepa... |
OMIM:619013 |
| Immunodeficiency 89 And Autoimmunity |
|
Increased circulating IgE level, Increased circulating IgA level, Hypochromic microcytic anemia, ... |
OMIM:619632 |
| Acute Erythroid Leukemia |
|
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... |
ORPHA:318 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po... |
OMIM:620367 |
| Diamond-Blackfan Anemia 6 |
|
Bifid uvula, Ventricular hypertrophy, Increased mean corpuscular volume, Failure to thrive, Persi... |
OMIM:612561 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice |
OMIM:224100 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated circulating hepatic transaminase concentration, Abnormal lymph node morphology, Abnormal... |
ORPHA:54251 |
| Syndromic Diarrhea |
|
Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Cirrhosis, Atrial ... |
ORPHA:84064 |
| Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
| Tempi Syndrome |
|
Increased circulating IgG level, Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Elevated gamma-glutamyltransferase l... |
OMIM:617093 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... |
OMIM:616828 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Mildly elevated creat... |
OMIM:618400 |
| Familial Benign Copper Deficiency |
|
Anemia, Decreased circulating copper concentration |
ORPHA:1551 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
| Idiopathic Achalasia |
|
Gastroesophageal reflux, Dysphagia, Weight loss, Decreased circulating prealbumin concentration |
ORPHA:930 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Anemia, Increased muscle glycogen content, Hyperuricemia |
ORPHA:371 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reticulocytos... |
OMIM:235700 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... |
OMIM:619658 |
| Wolman Disease |
|
Hepatic failure, Splenomegaly, Hepatomegaly, Cachexia, Anemia, Bone-marrow foam cells, Esophageal... |
ORPHA:75233 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatosplenomegaly, Hypersplenism, Elevated circulating alkaline phosphatase concentration, Fatal... |
ORPHA:275761 |
| Asplenia, Isolated Congenital |
|
Howell-Jolly bodies, Asplenia, Thrombocytosis |
OMIM:271400 |
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis |
OMIM:230450 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Neonatal death |
OMIM:273680 |
| Majeed Syndrome |
|
Leukocytosis, Splenomegaly, Hypochromic microcytic anemia, Congenital hypoplastic anemia, Hepatom... |
ORPHA:77297 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto... |
OMIM:616084 |
| Immunodeficiency 69 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,... |
OMIM:618963 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Pallor, Splenomegaly, Increased total bilirubin |
ORPHA:90037 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia |
OMIM:619423 |
| Desmoplastic Small Round Cell Tumor |
|
Ileus, Hepatomegaly, Cachexia, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Test... |
ORPHA:83469 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... |
OMIM:301083 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Obesity, Increased LDL cholesterol concentration, Hyperc... |
OMIM:615703 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... |
OMIM:613101 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Ane... |
OMIM:615285 |
| Refractory Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... |
ORPHA:98826 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Anisocytosis |
OMIM:604273 |
| Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic dyserythropoietic anemia, Macrocytic anemia |
OMIM:619789 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, Retic... |
OMIM:618278 |
| Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
| Abcd Syndrome |
|
Polycythemia |
OMIM:600501 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin... |
OMIM:242150 |
| Huppke-Brendel Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
OMIM:614482 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Hypochromic anemia, Increased circulating ferritin concentration, Microcytic anemia, Sideroblasti... |
OMIM:600462 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Loss of gluteal subcutaneous adipose tissue, Loss of subcuta... |
ORPHA:280356 |
| Isolated Sedoheptulokinase Deficiency |
|
Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Hypochromic microcytic an... |
ORPHA:440713 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal intestine morphology, Cachexia, Neutropenia, Tubulointerstitial nephritis, Nephrotic syn... |
ORPHA:37042 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatic failure, Extramedullary hematopoiesis, Hepatosplenomegaly, Hyperbilirubinemia, Pancytopen... |
OMIM:259720 |
| Rhabdoid Tumor |
|
Hematuria, Neoplasm of the liver, Weight loss, Lymphadenopathy, Thrombocytopenia, Anemia, Hyperca... |
ORPHA:69077 |
| Hereditary Spherocytosis |
|
Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration... |
ORPHA:822 |
| Alpha-Heavy Chain Disease |
|
Splenomegaly, Hypocalcemia, Dysgammaglobulinemia, Anemia, Hepatomegaly |
ORPHA:100025 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Generalized lipodystrophy, Hypocalcemia, Reduced subcutaneous adipose tissue, Lipodystrophy, Hype... |
OMIM:612526 |
| Zinc Deficiency, Transient Neonatal |
|
Decreased serum zinc |
OMIM:608118 |
| Harderoporphyria |
|
Increased fecal harderoporphyrin, Neonatal hyperbilirubinemia, Increased circulating ferritin con... |
OMIM:618892 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Cardiomyopathy, Increased circulating cre... |
OMIM:613752 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Anemia, Neutropenia... |
OMIM:603552 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Hypoalbuminemia, Decreased circulating iron concentration, Decreased circulating carnitine concen... |
ORPHA:89842 |
| Castleman Disease |
|
Restrictive cardiomyopathy, Ureteral obstruction, Renal insufficiency, Follicular hyperplasia, In... |
ORPHA:160 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Thrombocytopenia, Hypochromic microcytic anemia, Increased circulating ferritin concentration |
ORPHA:3240 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Bone Marrow Failure Syndrome 2 |
|
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia |
OMIM:615715 |
| Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Cachexia, Hypocalcemia |
ORPHA:1438 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... |
OMIM:616829 |
| Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytosis, Anemia of inadequate... |
ORPHA:86839 |
| Fanconi Anemia, Complementation Group V |
|
Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-fe... |
OMIM:617243 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Elevated circulating amyloid A concentrat... |
OMIM:619750 |
| Dilated Cardiomyopathy With Ataxia |
|
Elevated circulating hepatic transaminase concentration, Elevated circulating glutaric acid conce... |
ORPHA:66634 |
| Immunodeficiency 115 With Autoinflammation |
|
Hypoalbuminemia, Decreased circulating IgG level, Elevated haptoglobin level, Abnormal circulatin... |
OMIM:620632 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... |
OMIM:620010 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... |
OMIM:202700 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume |
OMIM:620044 |
| Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
| Cronkhite-Canada Syndrome |
|
Gastrointestinal carcinoma, Furrowed tongue, Stomach cancer, Intestinal polyposis, Splenomegaly, ... |
ORPHA:2930 |
| Polycythemia Vera |
|
Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Portal hypertension, Portal vein thromb... |
ORPHA:729 |
| Ménétrier Disease |
|
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia |
ORPHA:2494 |
| Glycogen Storage Disease Vii |
|
Cholelithiasis, Increased muscle glycogen content, Increased circulating lactate dehydrogenase co... |
OMIM:232800 |
| Eosinophilia, Familial |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
| Immunodeficiency 27A |
|
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Th... |
OMIM:209950 |
| Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circul... |
OMIM:300972 |
| Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Hypertriglyceridem... |
OMIM:607616 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal T cell count, Elevated circulating hepatic transaminase... |
ORPHA:331206 |
| Foxp1 Syndrome |
|
Abnormal heart morphology, Decreased circulating iron concentration, Overweight, Failure to thrive |
ORPHA:391372 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hepatomegaly, Sideroblastic anemia, Elevated circulating hepatic transaminase concentration, Pallor |
OMIM:613561 |
| Laryngeal Neuroendocrine Tumor |
|
Oral-pharyngeal dysphagia, Chronic noninfectious lymphadenopathy, Elevated circulating carcinoemb... |
ORPHA:100083 |
| Cryohydrocytosis |
|
Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia |
OMIM:185020 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Anemia, Increased serum pyruvate, Hyperalaninemia, Hypochromic microcytic anemia |
OMIM:619147 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Chronic kidney disease, Pancytopenia, Reduced haptoglobin level, Hemosiderinuria, Unconjugated hy... |
ORPHA:447 |
| Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Aminoaciduria, Cachexia, Methylmalonic aciduria, Elevated circulating creatine kinase concentration |
ORPHA:1933 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... |
OMIM:187800 |
| Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Pallor |
ORPHA:90064 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
| Crigler-Najjar Syndrome, Type Ii |
|
Reduced tissue UDP-glucuronyl-transferase activity, Unconjugated hyperbilirubinemia, Jaundice, El... |
OMIM:606785 |
| Trimethylaminuria |
|
Anemia, Splenomegaly, Neutropenia |
OMIM:602079 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Splenomegaly, Hyponatremia, Hepatomegaly, Cachexia, Myocarditis, Ane... |
ORPHA:3452 |
| Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Hepat... |
OMIM:278000 |
| Bone Marrow Failure Syndrome 3 |
|
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Failure to thriv... |
OMIM:617052 |
| Fanconi Anemia, Complementation Group G |
|
Microphthalmia, Anemia, Neutropenia, Thrombocytopenia, Leukemia |
OMIM:614082 |
| Formiminoglutamic Aciduria |
|
Abnormal circulating histidine concentration, Anemia, Megaloblastic anemia |
ORPHA:51208 |
| Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Pallor, Lymphadenopathy,... |
ORPHA:3226 |
| Microphthalmia/Coloboma 6 |
|
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos |
OMIM:613703 |
| Hydrops Fetalis, Nonimmune |
|
Anemia, Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:236750 |
| Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Microcytic anemia, Elevated circulating aspartate aminotransferase concen... |
OMIM:257200 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Large for gestational age, Vesicoureteral reflux, Elevated circulating alkaline phosphatase conce... |
OMIM:300868 |
| Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Fumarase Deficiency |
|
Aminoaciduria, Intrahepatic cholestasis, Hepatic failure, Elevated urine fumaric acid level, Poly... |
OMIM:606812 |
| Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
| Evans Syndrome |
|
Pallor, Autoimmune hemolytic anemia, Petechiae, Neutropenia in presence of anti-neutropil antibod... |
ORPHA:1959 |
| Poems Syndrome |
|
Polycythemia, Splenomegaly, Increased circulating antibody level, Lymphadenopathy, Thrombocytosis... |
ORPHA:2905 |
| Bone Marrow Failure Syndrome 6 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... |
OMIM:618849 |
| Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Abnormal macrophage morphology, Hypopl... |
ORPHA:2585 |
| Alpha-1-Antitrypsin Deficiency |
|
Reduced circulating alpha-1-antitrypsin concentration, Elevated circulating hepatic transaminase ... |
OMIM:613490 |
| Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Increased serum zinc |
OMIM:601979 |
| Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Weight loss, Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
| Diarrhea 13 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Fail... |
OMIM:620357 |
| Fetal Parvovirus Syndrome |
|
Ascites, Increased nuchal translucency, Thrombocytopenia, Anemia, Hydrops fetalis |
ORPHA:295 |
| Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level |
OMIM:612126 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Lipodystrophy, Lipoatrophy, Hypertriglyceridemia |
OMIM:613877 |
| Cog7-Cdg |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Abnormal heart morpho... |
ORPHA:79333 |
| Barth Syndrome |
|
Elevated monolysocardiolipin/cardiolipin ratio, Cyclic neutropenia, Hypochromic microcytic anemia... |
OMIM:302060 |
| Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Villous atrophy, Increased int... |
OMIM:619377 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
| Megaloblastic Anemia, Folate-Responsive |
|
Hypersegmentation of neutrophil nuclei, Increased circulating ferritin concentration, Folate-resp... |
OMIM:601775 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Elliptocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Elliptocytosis |
OMIM:130600 |
| Galactosemia I |
|
Increased level of galactitol in red blood cells, Aminoaciduria, Galactosuria, Failure to thrive,... |
OMIM:230400 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Anemia, Hyperammonemia |
ORPHA:28 |
| Cholestasis-Lymphedema Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Splenomegaly, Neonatal c... |
OMIM:214900 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... |
ORPHA:541423 |
| Multicentric Reticulohistiocytosis |
|
Cachexia, Histiocytosis |
ORPHA:139436 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anemia, Thrombocytopenia, Neutropenia, Monocytosis |
OMIM:620534 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Edema, Microphthalmia |
OMIM:616570 |
| Lesch-Nyhan Syndrome |
|
Anemia, Hyperuricemia |
ORPHA:510 |
| Hepatoportal Sclerosis |
|
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of t... |
ORPHA:64743 |
| Pulmonary Hemosiderosis |
|
Iron deficiency anemia |
OMIM:178550 |
| Fryns Microphthalmia Syndrome |
|
Anophthalmia, Neural tube defect, Microphthalmia |
OMIM:600776 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia, Thrombocytopenia |
OMIM:616176 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal mesentery morphology, Abnormality of the spleen, Cachexia, Tracheoesophageal fistula, In... |
ORPHA:93941 |
| Immunodeficiency 32B |
|
Hypoalbuminemia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Anemia, ... |
OMIM:226990 |
| Lysinuric Protein Intolerance |
|
Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, C... |
ORPHA:470 |
| Microphthalmia/Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Microphthalmia |
OMIM:614830 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Extramedullary hematopoiesis, Cholestasis, Hyperbilirubinemia, Dark urine, ... |
ORPHA:79303 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Failure to thrive, Decreased testicular size, Splenomegaly, Low alkaline phosphatase, Decreased s... |
OMIM:201100 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Bone marrow hypocellularity, Abnormality of the hepatic vasculature, Nodular regenerative hyperpl... |
ORPHA:210136 |
| Letterer-Siwe Disease |
|
Hepatosplenomegaly, Pallor, Neutropenia, Thrombocytopenia, Anemia, Jaundice |
OMIM:246400 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Reduced natural killer cell count, Hepatic failure, Elevated circulating hepatic transaminase con... |
ORPHA:158057 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Hemophagocytosis, Increased circulating ferritin concentration, ... |
OMIM:613011 |
| Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia, Hepatomegaly |
ORPHA:100024 |
| Immunodeficiency 114, Folate-Responsive |
|
Decreased circulating IgG level, Skin ulcer, Increased circulating ferritin concentration, Increa... |
OMIM:620603 |
| Congenital Toxoplasmosis |
|
Ascites, Hydrocephalus, Thrombocytopenia, Microphthalmia, Anemia |
ORPHA:858 |
| Glutamate-Cysteine Ligase Deficiency |
|
Jaundice, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis |
ORPHA:33574 |
| Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:612653 |
| Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, Microphthalmia |
ORPHA:1528 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Hypocalcemia, Iron deficiency anemia |
ORPHA:89937 |
| Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Hypomagne... |
ORPHA:90362 |
| Spherocytosis, Type 2 |
|
Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... |
OMIM:616649 |
| Glycogen Storage Disease Iii |
|
Hepatic fibrosis, Ventricular hypertrophy, Elevated circulating hepatic transaminase concentratio... |
OMIM:232400 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Neutropenia, Hepatomegaly, 3-Methylglutar... |
OMIM:557000 |
| Juvenile Polyposis Of Infancy |
|
Hypoalbuminemia, High, narrow palate, Intestinal bleeding, Gastrointestinal hemorrhage, Protein-l... |
ORPHA:79076 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice |
ORPHA:90033 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Mandibuloacral Dysplasia |
|
Increased circulating free fatty acid level, Increased subcutaneous truncal adipose tissue, Contr... |
ORPHA:2457 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Pallor |
ORPHA:99931 |
| Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Reduced hematocrit, Lymphadenopathy, Elevated circ... |
ORPHA:79126 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoalbuminemia, Intestinal lymphangiectasia, Anemia, Iron deficiency anemia, Thrombocytosis, Hep... |
OMIM:226300 |
| Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Secundum atrial septal defect, Horseshoe kidney, Tetralogy of ... |
OMIM:612562 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Hypertriglyceridemia, Normochromic anemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T... |
ORPHA:169079 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Microcytic anemia, Dry skin, Elevated circulating hepatic transaminase concentration, Cutis laxa |
OMIM:612379 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Livedoid Vasculopathy |
|
Polycythemia, Abnormal circulating lipid concentration, Pancytopenia, Leukocytosis, Hyperhomocyst... |
ORPHA:542643 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia |
OMIM:141000 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Slender build, Gastrointestinal dysmotility, Cachexia, Weight loss |
OMIM:613662 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Oral leukoplakia... |
OMIM:127550 |
| Cystic Echinococcosis |
|
Cholestatic liver disease, Peritoneal abscess, Elevated gamma-glutamyltransferase level, Elevated... |
ORPHA:400 |
| Immunodeficiency 46 |
|
Anemia, Decreased circulating antibody level, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia, Jaundice, Elevated circulating hepatic transaminase concentration |
OMIM:218800 |
| Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... |
OMIM:187950 |
| Heme Oxygenase 1 Deficiency |
|
Nephritis, Increased circulating lactate dehydrogenase concentration, Increased circulating ferri... |
OMIM:614034 |
| Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Chronic kidney disease, Elevated circulating hepatic transaminase concentration,... |
ORPHA:1667 |
| Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Leukocytosis, Eosinophilia, Abnormalit... |
ORPHA:2070 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... |
ORPHA:369 |
| Galactose Epimerase Deficiency |
|
Aminoaciduria, Splenomegaly, Weight loss, Hepatomegaly, Jaundice |
ORPHA:79238 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia |
OMIM:618313 |
| Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis |
OMIM:266140 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Anemia of inadequate productio... |
OMIM:617780 |
| Autoinflammation With Infantile Enterocolitis |
|
Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,... |
OMIM:616050 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly |
OMIM:610539 |
| Hepatic Veno-Occlusive Disease |
|
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Renal insuffi... |
ORPHA:890 |
| Spherocytosis, Type 1 |
|
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol... |
OMIM:182900 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... |
OMIM:235555 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hypoalbuminemia, Anemia, Hyperlipidemia |
OMIM:603278 |
| X-Linked Agammaglobulinemia |
|
Hepatitis, Failure to thrive, Hypocalcemia, Abnormality of the lymphatic system, Weight loss, Abn... |
ORPHA:47 |
| Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Abnormal circulating copper concentration |
ORPHA:521411 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Abnormal pericardium mo... |
ORPHA:67 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Hyperuricemia, Hypertriglyceridemia, Loss of gluteal subcuta... |
OMIM:604367 |
| Wilson Disease |
|
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c... |
OMIM:277900 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia, Hemolytic anemia |
OMIM:609153 |
| Dent Disease 2 |
|
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Increased circulat... |
OMIM:300555 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic tra... |
OMIM:607765 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... |
OMIM:618528 |
| Caroli Disease |
|
Elevated gamma-glutamyltransferase level, Cholestasis, Elevated circulating alkaline phosphatase ... |
ORPHA:53035 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Lipodystrophy, Loss of subcutaneous adipose tissue in limbs, Joint contracture, Hypertriglyceride... |
OMIM:615381 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Anemia, Hypercalcemia |
ORPHA:2668 |
| Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:614025 |
| Glutamate Formiminotransferase Deficiency |
|
Positive ferric chloride test, Megaloblastic anemia, Hypersegmentation of neutrophil nuclei |
OMIM:229100 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Cleft soft palate, Ventricular ... |
ORPHA:124 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly, Increased C-peptide level, Decreased ... |
ORPHA:276556 |
| Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia, Jaundice, Stomatocytosis, Hemolytic anemia |
OMIM:268150 |
| Thrombotic Thrombocytopenic Purpura |
|
Acute kidney injury, Microangiopathic hemolytic anemia, Abnormal circulating lactate dehydrogenas... |
ORPHA:54057 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor, Megaloblastic anemia, Thrombocytopenia |
ORPHA:49827 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Hydrocephalus, Microphthalmia |
ORPHA:324416 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia |
OMIM:615924 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Focal pancreatic islet hyperplasia, Pallor, Hepatomegaly, I... |
ORPHA:276575 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Hypokalemia, Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circul... |
OMIM:241150 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss, Abnormal circulating lipid concentration, Hyperlipoproteinemia |
ORPHA:1979 |
| Vascular Malformation, Primary Intraosseous |
|
Hypochromic anemia |
OMIM:606893 |
| Transaldolase Deficiency |
|
Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased serum bile acid conce... |
ORPHA:101028 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper... |
OMIM:618398 |
| Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
| Aids Wasting Syndrome |
|
Cachexia, Weight loss |
ORPHA:90081 |
| Oslam Syndrome |
|
Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
| 3-Methylglutaconic Aciduria, Type V |
|
Normochromic microcytic anemia, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:610198 |
| Rosaï-Dorfman Disease |
|
Anemia, Dysgammaglobulinemia |
ORPHA:158014 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Recurrent tonsillitis, Failure to thrive in infancy, Hyponatremia, Weight loss, H... |
ORPHA:171876 |
| Pearson Syndrome |
|
Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hepatomegaly, Hypoparathyroidism,... |
ORPHA:699 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Aminoaciduria, Proximal tubulopathy, Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Increased adipose tissue around the neck, Increased intraabdominal fat, Elevated circulating crea... |
ORPHA:435660 |
| Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos... |
ORPHA:514 |
| Diamond-Blackfan Anemia 12 |
|
Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ... |
OMIM:615550 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hepatosp... |
ORPHA:85450 |
| Dermatitis Herpetiformis |
|
Microcytic anemia, Erythema, Skin vesicle |
ORPHA:1656 |
| Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Anemia of inadequate production, Reduced haptoglobin level, Congenital hypopla... |
OMIM:105600 |
| Adult-Onset Still Disease |
|
Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ... |
ORPHA:829 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Obesity, Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Nephrotic syndrome, Elevated circulating hepatic transaminase concentration, Increa... |
OMIM:619644 |
| Somatostatinoma |
|
Intrahepatic cholestasis, Neoplasm of the pancreas, Intermittent jaundice, Gallbladder dysfunctio... |
ORPHA:97283 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Pallor, Reticulocytosi... |
ORPHA:35858 |
| Biemond Syndrome Type 2 |
|
Hydrocephalus, Microphthalmia |
ORPHA:141333 |
| Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia |
OMIM:218670 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Splenomegaly, Reduced haptoglobin l... |
OMIM:210250 |
| Bone Marrow Failure Syndrome 4 |
|
Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Decreased circulating antibody... |
OMIM:618116 |
| Fanconi Anemia, Complementation Group T |
|
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia |
OMIM:616435 |
| Aregenerative Anemia |
|
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, P... |
ORPHA:101096 |
| Mcleod Syndrome |
|
Elevated gamma-glutamyltransferase level, Dilated cardiomyopathy, Increased circulating lactate d... |
OMIM:300842 |
| Immunodeficiency 102 |
|
Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio... |
OMIM:301082 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor, Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90036 |
| Wilson Disease |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Acute hepa... |
ORPHA:905 |
| Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Anemia, Hypercalcemia, Thrombocytopenia |
ORPHA:2123 |
| Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Microcytic anemia, Hypochromic anemia |
OMIM:618451 |
| X-Linked Creatine Transporter Deficiency |
|
Aganglionic megacolon, Cachexia, Ileus, Abnormal circulating creatine concentration |
ORPHA:52503 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Cholestasis, Hepatic steatosis, Polycystic ovaries, Increased body weight, Myoglobinuria, Cirrhos... |
ORPHA:264580 |
| Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia, Jaundice, Elevated circulating hepatic transaminase concentratio... |
OMIM:143500 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia |
ORPHA:436182 |
| Temple Syndrome |
|
Obesity, Joint hypermobility, Hypercholesterolemia, Truncal obesity, Hypertriglyceridemia, Flexio... |
OMIM:616222 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Portal fibrosis, Portal infla... |
OMIM:602347 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... |
OMIM:600649 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Failu... |
OMIM:603553 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
| Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria,... |
OMIM:143880 |
| Microphthalmia/Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
| Infantile Liver Failure Syndrome 1 |
|
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Hepatic steatosis... |
OMIM:615438 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
| Monosomy 22 |
|
Hepatosplenomegaly, Aplasia of the thymus, Hypochromic microcytic anemia |
ORPHA:96123 |
| 16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Increased mean corpuscular volume, Cryptorchidism, Ventricular septal def... |
ORPHA:261250 |
| Central Diabetes Insipidus |
|
Hyponatremia, Weight loss, Failure to thrive, Nocturia |
ORPHA:178029 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hematochezia, Hepatitis, Fa... |
OMIM:613812 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Pallor, Chronic l... |
ORPHA:98849 |
| Immune Dysregulation, Autoimmunity, And Autoinflammation |
|
Abnormal circulating C-reactive protein concentration, Anemia |
OMIM:620514 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia, Anemia, Reduced circulating cortisol-binding globulin concentration |
OMIM:611489 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Rickets, Hypophosphatemic rickets, Hypophosphatemia, Craniosynostosis, Increased bone mineral den... |
OMIM:241520 |
| Diencephalic Syndrome |
|
Cachexia, Long penis, Decreased body weight |
ORPHA:1672 |
| Al Amyloidosis |
|
Xerostomia, Abnormal cardiac atrium morphology, Elevated circulating alkaline phosphatase concent... |
ORPHA:85443 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Monocytosis, Refractory anemia |
OMIM:616871 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
| Secondary Short Bowel Syndrome |
|
Volvulus, Failure to thrive, Cholestasis, Villous atrophy, Abnormal small intestine morphology, A... |
ORPHA:95427 |
| Glycogen Storage Disease Ixa1 |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Hypercholes... |
OMIM:306000 |
| Dermatitis, Atopic |
|
Dry skin, Facial erythema, Pallor |
OMIM:603165 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Congenital Erythropoietic Porphyria |
|
Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, Splenomegaly, Re... |
ORPHA:79277 |
| Macrophage Activation Syndrome |
|
Hypoalbuminemia, Increased circulating lactate dehydrogenase concentration, Hemophagocytosis, Hep... |
ORPHA:158061 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Failure to ... |
ORPHA:79301 |
| Down Syndrome |
|
Polycythemia, Acute megakaryocytic leukemia, Abnormality of the lymphatic system, Thrombocytopeni... |
ORPHA:870 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated gamma-glutamyltransferase level, Increased urinary glycerol, Cholestasis, Hepatosplenome... |
ORPHA:247598 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Congenital Generalized Lipodystrophy |
|
Failure to thrive, Adipose tissue loss, Lipodystrophy, Hypercholesterolemia, Hypertriglyceridemia... |
ORPHA:528 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Increased C-peptide level |
ORPHA:276580 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Microcytic anemia |
OMIM:618811 |
| Diamond-Blackfan Anemia 1 |
|
Renal hypoplasia, Increased mean corpuscular volume, Tricuspid stenosis, Failure to thrive, Persi... |
OMIM:105650 |
| Aredyld Syndrome |
|
Hepatomegaly, Abnormality of the ureter, Cachexia, Splenomegaly |
ORPHA:1133 |
| Von Hippel-Lindau Syndrome |
|
Hepatic hemangioma, Pancreatic cysts, Polycythemia, Neoplasm of the pancreas |
OMIM:193300 |
| Beckwith-Wiedemann Syndrome |
|
Nephropathy, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Polycythemia, Abnormal pancreas morpho... |
ORPHA:116 |
| Cog4-Cdg |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Hepatosple... |
ORPHA:263501 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... |
OMIM:159550 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Pallor, Increased C-peptide level, Decreased circulating free fatty acid level |
ORPHA:324575 |
| Perlman Syndrome |
|
High, narrow palate, Abnormal pancreas morphology, Cryptorchidism, Hepatomegaly, Hypoplasia of penis |
ORPHA:2849 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J... |
OMIM:612714 |
| Mitchell-Riley Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, Cholestasis... |
OMIM:615710 |
| Xfe Progeroid Syndrome |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Rena... |
OMIM:610965 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated circulating hepatic transaminase concentration, Elevated circulating sebacic acid concen... |
OMIM:615160 |
| Renpenning Syndrome |
|
High, narrow palate, Decreased testicular size, Cachexia, Anal atresia, Hypospadias, Cleft palate |
ORPHA:3242 |
| Focal Myositis |
|
Weight loss, Elevated circulating creatine kinase concentration |
ORPHA:48918 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor, Pancreatic islet-cell hyperplasia |
ORPHA:276608 |
| Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Lipodystrophy, Increased C-peptide level, Hypertriglyceridemia |
OMIM:615238 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia |
ORPHA:140905 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... |
ORPHA:567983 |
| Microphthalmia/Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Preeclampsia |
|
Chronic kidney disease, Abnormality of the hepatic vasculature, Elevated circulating hepatic tran... |
ORPHA:275555 |
| American Trypanosomiasis |
|
Hepatomegaly, Pallor, Splenomegaly, Lymphadenopathy |
ORPHA:3386 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Pallor, Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Decreased circulating... |
ORPHA:90045 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Hepatic failure, E... |
OMIM:251880 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Anemia, Hyperuricemia |
OMIM:613092 |
| Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
| Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Microcytic anemia, Patent ductus arteriosus |
ORPHA:90308 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Obesity, Increased LDL cholesterol concentration, Hypert... |
OMIM:618620 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Hepatic fibrosis, Acute pancreatitis, Elevated circulating hepatic transaminase ... |
OMIM:619487 |
| Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Elevated circulating hep... |
OMIM:232220 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Relapsing Fever |
|
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Increased circulati... |
ORPHA:91547 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi... |
OMIM:619662 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid... |
OMIM:208540 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Elevated circulating creatine kinase concentration |
OMIM:618838 |
| Ziegler-Huang Syndrome |
|
Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:620501 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute kidney injury, Increased circulating lactate dehydrogenase concentration, Anuria, Microangi... |
ORPHA:90038 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia |
OMIM:615863 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hepatomegaly, Abnormal circulating creatine kinase concentration, Elevated circulating hepatic tr... |
ORPHA:369840 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Hyp... |
OMIM:611881 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Abnorm... |
ORPHA:2198 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Failure to thrive, Decreased HDL cholesterol concentration, Hyperbilirubinemi... |
OMIM:605814 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Unilateral renal agenesis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic... |
OMIM:614576 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Increased intraabdominal fat, Lipodystrophy, Hypertriglyceridemia |
ORPHA:79085 |
| Eisenmenger Syndrome |
|
Bacterial endocarditis, Abnormal circulating B-type natriuretic peptide concentration, Increased ... |
ORPHA:97214 |
| Spinocerebellar Ataxia 48 |
|
Urinary incontinence, Cachexia, Dysphagia |
OMIM:618093 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Lipodystrophy, Loss of subcutaneous adipose tissue i... |
ORPHA:435651 |
| Dohle Bodies And Leukemia |
|
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies |
OMIM:223350 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Increased circulating ferritin concentration, Hypoplasia of th... |
OMIM:619313 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Elevated circulating deoxyuridine concentration, Colonic diverticula, Intestinal pseudo-obstructi... |
OMIM:603041 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... |
OMIM:605911 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t... |
ORPHA:228305 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Elevated circulating hepatic transa... |
OMIM:208085 |
| Srd5A3-Cdg |
|
Microcytic anemia, Elevated circulating hepatic transaminase concentration |
ORPHA:324737 |
| Microphthalmia/Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Mcdonough Syndrome |
|
Cachexia, Cryptorchidism |
ORPHA:2471 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat... |
OMIM:603471 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Increased adipose tissue around the neck, Increased facial adipose tissue, Increased intramuscula... |
OMIM:151660 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... |
ORPHA:99901 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr... |
OMIM:619484 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Dilate... |
ORPHA:367 |
| Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, Neoplas... |
ORPHA:90003 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
| Fetal Cytomegalovirus Syndrome |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, T... |
ORPHA:294 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Generalized lipodystrophy, Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose ti... |
ORPHA:363400 |
| Isolated Biliary Atresia |
|
Elevated gamma-glutamyltransferase level, Cholestasis, Hypopituitarism, Elevated circulating alka... |
ORPHA:30391 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Abnormal circulating protein concentra... |
ORPHA:103910 |
| Hereditary Chronic Pancreatitis |
|
Abnormal circulating enzyme concentration or activity, Leukocytosis, Pancreatic calcification, Re... |
ORPHA:676 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:203400 |
| Meckel Syndrome, Type 8 |
|
Occipital encephalocele, Encephalocele, Anophthalmia, Microphthalmia, Pericardial effusion |
OMIM:613885 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:610600 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Elevated circulating creatinine concentration, Neutropenia, Hyperuricemia |
OMIM:617056 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Weight loss, Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypochromic anemia, Leukocytosis, Hypocalcemia, Splenomegaly, Hypophosphatemia, Hepatomegaly, Hyp... |
ORPHA:289157 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... |
ORPHA:79302 |
| Tyrosinemia, Type I |
|
Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Gastrointestinal hemorrhage... |
OMIM:276700 |
| Elliptocytosis 3 |
|
Intermittent jaundice, Pyropoikilocytosis, Elliptocytosis, Decreased mean corpuscular volume, Chr... |
OMIM:617948 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatic fibrosis, Inflammation of the large intestine, Elevated circulating hepatic transaminase ... |
OMIM:615895 |
| Blue Rubber Bleb Nevus |
|
Microcytic anemia |
ORPHA:1059 |
| Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Mediastinal lymphadenopathy, Pituitary adenoma, Increased circulating pr... |
ORPHA:97289 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Increased circulating lactate dehydrogenase concentration, Elevated carcinoma antigen 125 level, ... |
ORPHA:370348 |
| Biliary Atresia, Extrahepatic |
|
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Increased total bilirub... |
OMIM:210500 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Hyperammonemia, Macrocytic anemia, Anemia, Pancreatitis, Thrombocytopenia, Hepatomegaly |
ORPHA:27 |
| Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hemolytic anemia, Hepatic failure, Hypertriglyceridemia |
OMIM:177000 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
| Transcobalamin Ii Deficiency |
|
Decreased circulating IgG level, Pancytopenia, Decreased circulating IgA level, Macrocytic anemia... |
OMIM:275350 |
| Lymphatic Malformation 7 |
|
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic tra... |
OMIM:214950 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated circulating hepatic transaminase concentration, Hypophosphatemic rickets, Pallor, Pancre... |
ORPHA:263455 |
| Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
| Cholestasis, Intrahepatic, Of Pregnancy, 1 |
|
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Increased seru... |
OMIM:147480 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hyperammonemia, Anemia, Pancreatitis, Neutropenia, Thrombocytopenia, Hepatomegaly |
ORPHA:289916 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... |
ORPHA:2394 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... |
ORPHA:65682 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Chylomicron Retention Disease |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ... |
ORPHA:71 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Elevated total serum tryptase, Decreased liver function, Hepatosplen... |
ORPHA:98850 |
| Hemolytic Anemia, Congenital, X-Linked |
|
Jaundice, Hemolytic anemia |
OMIM:301015 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level |
OMIM:601198 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Joint stiffness, Obesity, Increased LDL cholesterol concentration, Hyp... |
ORPHA:98855 |
| Slc39A8-Cdg |
|
Failure to thrive in infancy, Hypomanganesemia, Abnormality of the liver, Abnormal blood zinc con... |
ORPHA:468699 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Cirrhosis, Iron deficiency anemia, Chronic... |
OMIM:269200 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Alexander Disease Type I |
|
Cachexia, Dysphagia, Failure to thrive |
ORPHA:363717 |
| Blue Diaper Syndrome |
|
Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Inc... |
ORPHA:94086 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Microcytic anemia, Elevated circulating creatine kinase concentration, Methylmalonic acidemia |
OMIM:612073 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Abnormal circulating copper concentration, Cardiomegaly, Abnormal circulat... |
OMIM:620306 |
| Hereditary Elliptocytosis |
|
Neonatal hyperbilirubinemia, Stomatocytosis, Cholelithiasis, Abnormal erythrocyte morphology, Con... |
ORPHA:288 |
| Christianson Syndrome |
|
Cachexia, Gastroesophageal reflux, Dysphagia |
ORPHA:85278 |
| Congenital Disorder Of Glycosylation, Type Ii |
|
Hepatomegaly, Iron deficiency anemia |
OMIM:607906 |
| Adams-Oliver Syndrome 4 |
|
Microphthalmia, Umbilical hernia |
OMIM:615297 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Acanthocytosis, Petechiae, Anemia of inadequate production, Congenital thrombocytopenia, Poikiloc... |
OMIM:300367 |
| Schnitzler Syndrome |
|
Leukocytosis, Splenomegaly, Anemia, Hepatomegaly, Increased circulating IgM level |
ORPHA:37748 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Weight loss, Goiter |
OMIM:188580 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612924 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia |
OMIM:615085 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612926 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Chronic kidney disease, Acute kidney injury, Elevated circulating hepatic transaminase concentrat... |
ORPHA:284426 |
| Sepsis In Premature Infants |
|
Decreased liver function, Leukocytosis, Splenomegaly, Pallor, Petechiae, Anemia, Elevated circula... |
ORPHA:90051 |
| Porphyria Variegata |
|
Chronic kidney disease, Elevated circulating hepatic transaminase concentration, Abnormality of t... |
ORPHA:79473 |
| Genetic Recurrent Myoglobinuria |
|
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, ... |
ORPHA:99845 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Asplenia |
ORPHA:3204 |
| Orthostatic Hypotension 2 |
|
Anemia |
OMIM:618182 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Anemia |
OMIM:614514 |
| Glycogen Storage Disease Ixc |
|
Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen... |
OMIM:613027 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Abnormal circulating eicosanoid concentration, Decreased serum thromboxane B2, Decreased circulat... |
OMIM:618372 |
| Mevalonic Aciduria |
|
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... |
OMIM:610377 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Monoclonal immunoglobulin M proteinemia, Leukemia, Pallor, Splenomegaly, Lymph... |
ORPHA:33226 |
| Reticular Dysgenesis |
|
Anemia, Leukopenia, Decreased circulating antibody level, Abnormality of neutrophils |
ORPHA:33355 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis |
OMIM:266120 |
| Hartsfield Syndrome |
|
Encephalocele, Lobar holoprosencephaly, Microphthalmia |
ORPHA:2117 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thrombocytopenia, Anemia... |
OMIM:185070 |
| Vipoma |
|
Intrahepatic cholestasis, Pituitary adenoma, Increased circulating prolactin concentration, Abnor... |
ORPHA:97282 |
| Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Multicystic kidney dysplasia, Increased mean corpusc... |
OMIM:619774 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat... |
ORPHA:131 |
| Caroli Syndrome |
|
Hypersplenism, Hyperbilirubinemia, Congenital hepatic fibrosis, Elevated circulating alkaline pho... |
ORPHA:480520 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Microcytic anemia, HbH hemoglobin |
ORPHA:98791 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat... |
OMIM:255120 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia |
OMIM:243320 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hyperammonemia, Splenomegaly, Anemia, Pancreatitis, Neutropenia, Thrombocytopenia, Hepatomegaly |
ORPHA:79312 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Microcytic anemia, Elevated circulating creatine kinase concentration, Neutropenia, Hepatomegaly,... |
OMIM:251900 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hypertrophic ... |
OMIM:619902 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia |
OMIM:616738 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypoalbuminemia, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati... |
ORPHA:540 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Pituitary adenoma, Hepatitis, Failure to thrive, Macrocytic anemia, Hyperurice... |
ORPHA:199299 |
| Interstitial Lung And Liver Disease |
|
Aminoaciduria, Hepatic fibrosis, Hepatic failure, Elevated gamma-glutamyltransferase level, Intra... |
OMIM:615486 |
| Multiple Myeloma |
|
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Functional abnor... |
ORPHA:29073 |
| Cinca Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Anemia, Elevated circulating C-reactive protein c... |
OMIM:607115 |
| Von Willebrand Disease |
|
Microcytic anemia, Abnormal platelet function, Petechiae, Thrombocytopenia |
ORPHA:903 |
| Ogden Syndrome |
|
Hyperbilirubinemia, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial sept... |
OMIM:300855 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Weight loss, Goiter |
OMIM:613239 |
| Celiac Disease, Susceptibility To, 1 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocalcemia, Macrocy... |
OMIM:212750 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Joint stiffness, Obesity, Increased LDL cholesterol concentration, Hyp... |
ORPHA:98863 |
| Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:66661 |
| Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Joint stiffness, Obesity, Increased LDL cholesterol concentration, Hyp... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Joint stiffness, Obesity, Increased LDL cholesterol concentration, Hyp... |
ORPHA:98853 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Abnormal circulating e... |
ORPHA:79240 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased LDL cholesterol concentra... |
OMIM:615558 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular volume, Small for gestational age |
OMIM:616943 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Macrocytic anemia, Hyperprolinemia, Hyperalaninemia, Increased serum pyruvate |
OMIM:619046 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... |
OMIM:267700 |
| Mirage Syndrome |
|
Lymphopenia, Leukopenia, Petechiae, Hyponatremia, Thrombocytopenia, Anemia, Hyperkalemia, Hypopla... |
OMIM:617053 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Normocytic anemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Methylmalonic ac... |
OMIM:236270 |
| Generalized Pustular Psoriasis |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Lymphopenia, Obesity, L... |
ORPHA:247353 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis... |
OMIM:274150 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia, Cystoid macular edema |
OMIM:611040 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Cirrhosis, Myeloid leukemia, Anemia |
OMIM:614742 |
| Lymphatic Malformation 8 |
|
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... |
OMIM:618773 |
| Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Hydrocephalus, Microphthalmia |
OMIM:601794 |
| Mitochondrial Dna Depletion Syndrome 19 |
|
Microcytic anemia |
OMIM:618972 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
| Riboflavin Transporter Deficiency |
|
Cachexia, Dysphagia |
ORPHA:97229 |
| Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, F... |
OMIM:260400 |
| Microphthalmia, Syndromic 12 |
|
Neonatal death, Anophthalmia, Microphthalmia |
OMIM:615524 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:300635 |
| Non-Functioning Paraganglioma |
|
Hypercalcemia, Pallor |
ORPHA:94080 |
| Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, ... |
OMIM:613070 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Xk Aprosencephaly Syndrome |
|
Polyhydramnios, Microphthalmia |
ORPHA:3469 |
| Infantile Liver Failure Syndrome 3 |
|
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... |
OMIM:618641 |
| Bile Acid Conjugation Defect 1 |
|
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... |
OMIM:619232 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612925 |
| Glucagonoma |
|
Intrahepatic cholestasis, Gastrointestinal hemorrhage, Pituitary adenoma, Increased circulating p... |
ORPHA:97280 |
| Diffuse Alveolar Hemorrhage |
|
Elevated circulating creatinine concentration, Leukocytosis, Hematuria, Proteinuria, Weight loss,... |
ORPHA:90060 |
| Blue Rubber Bleb Nevus |
|
Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
| Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
| Low Phospholipid-Associated Cholelithiasis |
|
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... |
ORPHA:69663 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Aminoaciduria, Nephrocalcinosis, Elevated circulating hepatic transaminase concentr... |
OMIM:616026 |
| Mody |
|
Nephropathy, Pancreatic hypoplasia, Glycosuria, Exocrine pancreatic insufficiency, Obesity, Abnor... |
ORPHA:552 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Fanconi-Bickel Syndrome |
|
Nephropathy, Generalized aminoaciduria, Hepatic failure, Nephrocalcinosis, Glycosuria, Failure to... |
ORPHA:2088 |
| Acatalasemia |
|
Microcytic anemia |
ORPHA:926 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased adipose tissue around the neck, Increased facial adipose tissue, Increased intraabdomin... |
ORPHA:280365 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Elevated circulating hepatic transa... |
OMIM:613404 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
| Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Hypocalcemia |
OMIM:602361 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... |
ORPHA:26793 |
| Congenital Alveolar Capillary Dysplasia |
|
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Volvulus, Duodenal stenosis, Int... |
ORPHA:210122 |
| Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Anophthalmia, Microphthalmia |
OMIM:164180 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Elevated hemoglobin A1c |
OMIM:616511 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia |
OMIM:616801 |
| Coach Syndrome 2 |
|
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Eleva... |
OMIM:619111 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Hypertriglyceridemia |
OMIM:620282 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Hepatomegaly, Anemia, Splenomegaly |
OMIM:618107 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
| Primary Sclerosing Cholangitis |
|
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... |
ORPHA:171 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
3-Methylglutaric aciduria, Elevated circulating hepatic transaminase concentration, Ketonuria, Di... |
ORPHA:20 |
| Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Anemia, Increased blood urea nitrogen, Thromb... |
ORPHA:231111 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
| Igg4-Related Thyroid Disease |
|
Euthyroid goiter, Goiter, Sialadenitis, Hypocalcemia, Sclerosing cholangitis, Pancreatic fibrosis... |
ORPHA:64744 |
| Von Hippel-Lindau Disease |
|
Polycythemia, Cardiomyopathy, Elevated urinary catecholamine level, Adrenal pheochromocytoma, Pan... |
ORPHA:892 |
| Jervell And Lange-Nielsen Syndrome |
|
Iron deficiency anemia |
ORPHA:90647 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Cellulitis, Lipodystrophy, Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Li... |
ORPHA:2348 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Leukemia, Hydrocephalus, Microphthalmia |
OMIM:602501 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Elevated gamma-glutamyltransferase level, Elevated cir... |
OMIM:619463 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
| Senior-Boichis Syndrome |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Chronic kidney disease, Elevated circ... |
ORPHA:84081 |
| Senior-Loken Syndrome 4 |
|
Anemia |
OMIM:606996 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... |
OMIM:609015 |
| Oslam Syndrome |
|
Anemia |
OMIM:165660 |
| Senior-Loken Syndrome 8 |
|
Intrahepatic bile duct dilatation, Pancreatic cysts, Pallor, Hepatic cysts |
OMIM:616307 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Hypotriglyceridemia, Iron deficiency anemia, Decreased HDL cholestero... |
OMIM:618885 |
| Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Anemia, Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
High nonceruloplasmin-bound serum copper, Atrial septal defect, Thrombocytopenia |
ORPHA:457351 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Failure to thrive, Elevated circulating creatine kinase concentration, Lipodystrophy,... |
OMIM:613327 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Microphthalmia, Meningocele, Anencephaly |
OMIM:611134 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Pallor, Hep... |
ORPHA:348 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556037 |
| Idiopathic Aplastic Anemia |
|
Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:88 |
| Amed Syndrome, Digenic |
|
Bone marrow hypocellularity, Leukopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia |
OMIM:619151 |
| Meckel Syndrome, Type 5 |
|
Microphthalmia, Occipital encephalocele, Anencephaly |
OMIM:611561 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss, Abnormal peritoneum morphology |
ORPHA:2023 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Eleva... |
ORPHA:71212 |
| Tetrasomy 12P |
|
Abnormal soft palate morphology, Anal atresia, Cachexia |
ORPHA:884 |
| Polymyositis |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Dilated cardiomyopathy, Hypertrophic cardio... |
ORPHA:732 |
| Bone Marrow Failure Syndrome 5 |
|
Erythroid hypoplasia, Pure red cell aplasia, Anemia, Decreased circulating antibody level |
OMIM:618165 |
| Ppoma |
|
Intrahepatic cholestasis, Cholelithiasis, Gastrointestinal hemorrhage, Pituitary adenoma, Intesti... |
ORPHA:97278 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Weight loss, Cleft palate |
ORPHA:141152 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated circulating hepatic transaminase concentration, Microcytic anemia, Hepatic steatosis, T ... |
ORPHA:2959 |
| Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
| Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Acute leukemia, Skin ulcer, Microcytic anemia, Lymphopenia, Hemol... |
ORPHA:906 |
| Cryptogenic Organizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Weight loss, Leukocytosis, Neutrophilia |
ORPHA:1302 |
| Glucose-Galactose Malabsorption |
|
Failure to thrive, Renal insufficiency, Nephrolithiasis, Hematuria, Weight loss, Hypercalcemia, H... |
ORPHA:35710 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Hydrocephalus, Microphthalmia |
OMIM:613155 |
| Microsporidiosis |
|
Nephritis, Lymphadenitis, Hepatitis, Abnormality of the parathyroid gland, Urethritis, Abnormalit... |
ORPHA:2552 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Leukocytosis, Abnormality of the gastrointestinal tract, Weight loss, Elevated... |
ORPHA:2902 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Anemia, Splenomegaly |
OMIM:620296 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating creatine kinase co... |
OMIM:615980 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Hydrocephalus, Microphthalmia |
OMIM:615181 |
| Follicular Lymphoma |
|
Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Mediastinal lymphaden... |
ORPHA:545 |
| Immunodeficiency 87 And Autoimmunity |
|
Elevated gamma-glutamyltransferase level, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Bive... |
OMIM:619573 |
| Matthew-Wood Syndrome |
|
Renal hypoplasia, Annular pancreas, Failure to thrive, Duodenal stenosis, Horseshoe kidney, Vesic... |
ORPHA:2470 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Osteomyelitis, Hypertriglyceridemia |
OMIM:618010 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocy... |
OMIM:603554 |
| Fanconi Anemia, Complementation Group R |
|
Anemia, Hydrocephalus, Microphthalmia |
OMIM:617244 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia, Renal insufficiency, Reticulocytosis, Myoglobinuria, Hemolytic anemia, Decrea... |
ORPHA:713 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Failure to thrive, Lipodystrophy, Arthritis, Hypertriglyceridemia, Flexion contracture, Panniculitis |
OMIM:617591 |
| Oculogastrointestinal Muscular Dystrophy |
|
Intestinal pseudo-obstruction, Abnormal gastric mucosa morphology, Abnormal mitral valve morpholo... |
ORPHA:1876 |
| Xp21 Deletion Syndrome |
|
Elevated circulating creatine kinase concentration, Joint hypermobility, Hypertriglyceridemia, Os... |
ORPHA:261476 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia, Narrow palate, High palate, Gastroesophageal reflux |
OMIM:618186 |
| Werner Syndrome |
|
Osteoporosis, Elevated hemoglobin A1c, Reduced bone mineral density, Hypertriglyceridemia |
OMIM:277700 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Decreased circulating carnitine concentration, Elevated circulating aspartate aminotransferase co... |
OMIM:246450 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Increased circulating ... |
ORPHA:158048 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congeni... |
ORPHA:731 |
| Autoimmune Hepatitis |
|
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Gas... |
ORPHA:2137 |
| Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Failure to thrive, Exocrine pancreatic insufficiency, Reduced C-peptide le... |
OMIM:260370 |
| Pfapa Syndrome |
|
Hepatomegaly, Weight loss, Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hepatic failure, Failure to thrive, Elevated circulating aspartate aminotransferase concentration... |
OMIM:617049 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Anemia, Inflammation of the large intestine, Weight loss, Elevated circulating C-reactive protein... |
ORPHA:324964 |
| Acquired Generalized Lipodystrophy |
|
Abnormal circulating lipid concentration, Generalized lipodystrophy, Hypertriglyceridemia, Pannic... |
ORPHA:79086 |
| 19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Cachexia, Hyp... |
ORPHA:217346 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Enure... |
ORPHA:247585 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Hepatomegaly |
OMIM:612840 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increased blood urea nitro... |
OMIM:613845 |
| Microphthalmia, Syndromic 16 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
| Meckel Syndrome, Type 2 |
|
Meningocele, Anencephaly, Encephalocele, Microphthalmia |
OMIM:603194 |
| Holocarboxylase Synthetase Deficiency |
|
Organic aciduria, Weight loss, Hyperammonemia, Thrombocytopenia |
ORPHA:79242 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Elevated circulating creatinine concentration, Lymphopenia, Leukopenia, Reduced haptoglobin level... |
OMIM:301110 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Failure to thrive, Exocrine pancreatic insufficiency, Hyperechogenic pancreas,... |
OMIM:617941 |
| Solitary Fibrous Tumor |
|
Urinary retention, Hypophosphatemic rickets, Neoplasm of the liver, Weight loss, Reduced C-peptid... |
ORPHA:2126 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra... |
ORPHA:79095 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Bone marrow hypocellularity, Leukopenia, Refractory anemia, Thrombocytopenia |
OMIM:231095 |
| Myopathic Ehlers-Danlos Syndrome |
|
Pallor, Mildly elevated creatine kinase |
ORPHA:536516 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Reduced tissue carnitine-acylcarnitine translocase activity, Ventricular hypertrophy, Elevated ci... |
OMIM:212138 |
| Neuroblastoma |
|
Elevated urinary homovanillic acid, Increased circulating lactate dehydrogenase concentration, In... |
ORPHA:635 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Anemia, Decreased liver function, Elevated circulating creatine kinase concentration |
OMIM:618835 |
| Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Decreased circulating apolipoprotein C-II concentration, Increased circulat... |
OMIM:207750 |
| Nephrotic Syndrome, Type 2 |
|
Hypoalbuminemia, Hyperlipidemia |
OMIM:600995 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Anemia, Decreased liver function, Elevated circulating creatine kinase concentration |
OMIM:618839 |
| Neutrophilic Dermatosis, Acute Febrile |
|
Elevated circulating C-reactive protein concentration, Anemia |
OMIM:608068 |
| Pseudo-Torch Syndrome 3 |
|
Anemia, Leukocytosis, Congenital thrombocytopenia, Increased circulating ferritin concentration |
OMIM:618886 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level |
ORPHA:556030 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Abdominal obesity, Hypercholesterolemia, Truncal obesity... |
OMIM:615812 |
| Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
| Alveolar Echinococcosis |
|
Biliary cirrhosis, Decreased liver function, Abnormal mesentery morphology, Abnormal pericardium ... |
ORPHA:284 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Loss of facial adipose tissue, Hyperuricemia, Loss of subcutaneous adipose tissue in limbs, Hyper... |
ORPHA:79083 |
| Smith-Magenis Syndrome |
|
Increased body weight, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Hypertrophic cardiomyopathy, Hepatomegaly, Weight loss, Atrial septal defect, ... |
ORPHA:1842 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Elevated gamma-glutamyltransferase level, Hyperbilirubinemia, Elevated circulating ... |
OMIM:227810 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la... |
OMIM:301074 |
| Grfoma |
|
Increased circulating prolactin concentration, Intestinal obstruction, Weight loss, Elevated circ... |
ORPHA:97261 |
| Igg4-Related Aortitis |
|
Hypereosinophilia, Intestinal obstruction, Hydronephrosis, Weight loss, Elevated circulating C-re... |
ORPHA:449400 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Cardiomyopathy, ... |
ORPHA:98907 |
| Martinez-Frias Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... |
OMIM:601346 |
| Polyarteritis Nodosa |
|
Cardiomyopathy, Abnormality of the gastrointestinal tract, Weight loss, Elevated circulating C-re... |
ORPHA:767 |
| Tangier Disease |
|
Elevated circulating apolipoprotein A-II concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
| Hydrolethalus |
|
Anophthalmia, Hydrocephalus, Microphthalmia, Polyhydramnios, Anencephaly |
ORPHA:2189 |
| Hyperlipoproteinemia, Type Id |
|
Failure to thrive, Increased circulating chylomicron concentration, Hypertriglyceridemia, Hyperli... |
OMIM:615947 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Chronic pancreatitis, He... |
OMIM:610717 |
| Adenohypophysitis |
|
Hyponatremia, Pallor, Normochromic anemia |
ORPHA:95512 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Obesity, Increased LDL cholesterol concentration, Gout, ... |
ORPHA:412 |
| Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
| Lcat Deficiency |
|
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... |
ORPHA:650 |
| H Syndrome |
|
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Hypertriglyceridemia, Histiocytosis |
ORPHA:168569 |
| Avian Influenza |
|
Hypoalbuminemia, Acute kidney injury, Elevated circulating hepatic transaminase concentration, In... |
ORPHA:454836 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Elevated circulating hepatic transaminase concentration, Abnormal pineal melatonin secretion, Hyp... |
ORPHA:69665 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Aortic valve calcification, Hepatic fibrosis, Cholelithiasis, Bacterial endocarditis, Abnormality... |
ORPHA:2072 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia |
OMIM:598500 |
| Hypokalemic Tubulopathy And Deafness |
|
Increased circulating renin level |
OMIM:619406 |
| Lissencephaly 8 |
|
Occipital encephalocele, Microphthalmia |
OMIM:617255 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Aminoaciduria, Beta 2-microglobulinuria, Sterile pyuria, Elevated circulating ... |
ORPHA:91500 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Hepat... |
OMIM:617068 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Failure to thrive, Renal insufficiency, Hyperuricemia, Hyponatremia, Decreased... |
ORPHA:95409 |
| Familial Pancreatic Carcinoma |
|
Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Intestinal pseudo-ob... |
ORPHA:1333 |
| Interstitial Nephritis, Karyomegalic |
|
Elevated circulating hepatic transaminase concentration, Nephronophthisis, Glycosuria, Renal tubu... |
OMIM:614817 |
| Tafro Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Elevated circulating C-reactive protein c... |
ORPHA:457077 |
| Neonatal Lupus Erythematosus |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Dilate... |
ORPHA:398124 |
| Leukocyte Adhesion Deficiency |
|
Bone marrow hypocellularity, Abnormality of neutrophil physiology, Recurrent tonsillitis, Polycyt... |
ORPHA:2968 |
| Addison Disease |
|
Normocytic anemia, Thymoma, Renal salt wasting, Failure to thrive, Celiac disease, Thiamine-respo... |
ORPHA:85138 |
| Beta-Ketothiolase Deficiency |
|
Leukocytosis, Hyperammonemia, Hyperuricemia, Pallor, Thrombocytosis, Hepatomegaly |
ORPHA:134 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenomegal... |
OMIM:610199 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Microcytic anemia, Leukocytosis, Skin vesicle, Anemia, Abnormal isohemagglutinin level, Neutrophi... |
ORPHA:99843 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
| Renal Cysts And Diabetes Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Elevated circulating hepatic transaminase concentrat... |
OMIM:137920 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria, Cachexia |
ORPHA:2774 |
| Kaposi Sarcoma |
|
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Abnormality of ... |
ORPHA:33276 |
| Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Reduced bone mineral density, Multiple lipomas |
ORPHA:1414 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Decreased specific anti-polysaccharide antibody level, Increased ... |
OMIM:301000 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Eosinophilia... |
OMIM:304790 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Cachexia |
ORPHA:371364 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia |
OMIM:612527 |
| 2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... |
OMIM:617156 |
| Abetalipoproteinemia |
|
Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Elevated circulating hepatic transaminase... |
ORPHA:14 |
| Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
| Kikuchi-Fujimoto Disease |
|
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... |
ORPHA:50918 |
| Pleural Mesothelioma |
|
Hepatomegaly, Weight loss, Dysphagia, Lymphadenopathy |
ORPHA:50251 |
| Silver-Russell Syndrome |
|
Gastroesophageal reflux, Failure to thrive in infancy, Decreased testicular size, Obesity, Crypto... |
ORPHA:813 |
| Panhypophysitis |
|
Hyponatremia, Pallor, Normochromic anemia |
ORPHA:95513 |
| Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
| Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Splenomegaly, Thrombocytopenia, Microphthalmia, Anemia |
ORPHA:290 |
| Schwartz-Jampel Syndrome |
|
Decreased testicular size, Abnormality of the ureter, Nephrolithiasis, Elevated circulating creat... |
ORPHA:800 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Elevated circulating tetradecanoylcarnitine concentration, Increased urine alpha-ketoglutarate co... |
OMIM:619355 |
| Gaucher Disease Type 1 |
|
Elevated circulating CCL18 level, Splenic infarction, Cholelithiasis, Hepatic failure, Increased ... |
ORPHA:77259 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Chronic kidney disease, Gastroesophageal reflux, Abnormal circulating selenium concentration, Dil... |
ORPHA:79408 |
| Congenital Disorder Of Glycosylation, Type It |
|
Intrahepatic cholestasis, Bifid uvula, Elevated circulating hepatic transaminase concentration, D... |
OMIM:614921 |
| Hydatidiform Mole |
|
Anemia |
ORPHA:99927 |
| Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Ketonuria, Glycosuria, Failure to thrive... |
ORPHA:2089 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Obesity, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
| Hardikar Syndrome |
|
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Cleft so... |
OMIM:301068 |
| Nephronophthisis 9 |
|
Anemia |
OMIM:613824 |
| Infantile Liver Failure Syndrome 2 |
|
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Acute hepatic failure, H... |
OMIM:616483 |
| Neuroendocrine Tumor Of Stomach |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Chronic noninfectious l... |
ORPHA:100075 |
| Camurati-Engelmann Disease |
|
Urinary retention, Hypertrophic cardiomyopathy, Slender build, Leukopenia, Splenomegaly, Hepatome... |
ORPHA:1328 |
| Congenital Heart Block |
|
Pallor, Patent ductus arteriosus |
ORPHA:60041 |
| Bresek Syndrome |
|
Neonatal death, Optic nerve hypoplasia, Hydrocephalus, Microphthalmia |
ORPHA:85284 |
| Cofs Syndrome |
|
Microphthalmia |
ORPHA:1466 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Failure to thri... |
OMIM:610131 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Hyperhomocystinemia, Ne... |
OMIM:614857 |
| Acquired Von Willebrand Syndrome |
|
Normocytic anemia, Hypochromic anemia, Refractory anemia |
ORPHA:99147 |
| Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Pituitary adenoma, Cardiac diverticulum, Pancreatic adenocarcinoma, ... |
ORPHA:440437 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypospadias, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentratio... |
ORPHA:93111 |
| Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Intestinal obstruction, Weight loss, Lymphadenopathy, Abnorm... |
ORPHA:26790 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Chronic kidney disease, Hepatic fibrosis, Nephritis, Renal insufficiency, Proteinuria, Renal cyst... |
OMIM:208500 |
| Smith-Magenis Syndrome |
|
Failure to thrive in infancy, Joint stiffness, Obesity, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Cholelithiasis, Cholecystitis, Splenomegaly, Macrocytic anemia, Prolonged neon... |
OMIM:615512 |
| Neuroleptic Malignant Syndrome |
|
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, ... |
ORPHA:94093 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Sideroblastic anemia, Leukopenia, Elevated circulating creatine kinase concentration, Increased i... |
OMIM:255125 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hyperglycinuria, Decreased circulating carnitine concentration, Elevated circulating hepatic tran... |
OMIM:201450 |
| Tay-Sachs Disease |
|
GM2-ganglioside accumulation, Pallor |
OMIM:272800 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, D... |
OMIM:618213 |
| Felty Syndrome |
|
Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Weight l... |
ORPHA:47612 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Hypoalbuminemia, Reduced natural killer cell count, Anoperineal fistula, Hepatitis, Villous atrop... |
OMIM:619381 |
| Fanconi Anemia, Complementation Group I |
|
Bone marrow hypocellularity, Pallor, Neutropenia |
OMIM:609053 |
| Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Hematochezia, Hepatitis, Increased circulating ferritin concentration, Hypert... |
OMIM:615846 |
| Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly |
ORPHA:391 |
| Pyridoxal Phosphate-Responsive Seizures |
|
Abnormal circulating arginine concentration, Abnormal circulating glycine concentration, Abnormal... |
ORPHA:79096 |
| Congenital Enterovirus Infection |
|
Hypoalbuminemia, Hepatic failure, Hepatitis, Cholestasis, Leukopenia, Leukocytosis, Hyperammonemi... |
ORPHA:292 |
| Methylmalonic Aciduria, Cblb Type |
|
Elevated circulating propionylcarnitine concentration, Pancytopenia, Hyperglycinemia, Hyperammone... |
OMIM:251110 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... |
ORPHA:567548 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin... |
OMIM:618329 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated circulating hepatic transaminase concentration, Increased hepatic echogenicity, Microcyt... |
OMIM:619525 |
| Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
| Pituitary Apoplexy |
|
Hyponatremia, Pallor, Normochromic anemia |
ORPHA:95613 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
| Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Gastrointestinal hemorrhage, Hematochezia, Pituitary adenoma, Peptic ulcer, ... |
ORPHA:913 |
| Q Fever |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal heart valve morpholo... |
ORPHA:781 |
| Familial Glucocorticoid Deficiency |
|
Leydig cell neoplasia, Hypernatriuria, Failure to thrive, Hypertrophic cardiomyopathy, Cryptorchi... |
ORPHA:361 |
| Insulin-Resistance Syndrome Type B |
|
Hypoalbuminemia, Nephritis, Hypotriglyceridemia, Biliary cirrhosis, Glycosuria, Abnormal circulat... |
ORPHA:2298 |
| Adams-Oliver Syndrome 2 |
|
Oligohydramnios, Hydrocephalus, Microphthalmia |
OMIM:614219 |
| Monosomy 18P |
|
Microphthalmia, Holoprosencephaly, Lymphedema |
ORPHA:1598 |
| Gamma-Heavy Chain Disease |
|
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Anemia, Thrombocytopen... |
ORPHA:100026 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Polyhydramnios, Microphthalmia |
ORPHA:2547 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of neutrophils, Hypochromic anemia |
ORPHA:2720 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, A... |
ORPHA:276621 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Pallor, Splenomegaly, Hypocalcemia, Anemia, Hypophosphatemia, Lymphadenopathy, Hepatomegaly |
ORPHA:667 |
| Developmental And Epileptic Encephalopathy 50 |
|
Acanthocytosis, Hyperammonemia, Schistocytosis, Anisopoikilocytosis, Anemia |
OMIM:616457 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... |
OMIM:235400 |
| Fanconi Anemia, Complementation Group D2 |
|
Bone marrow hypocellularity, Annular pancreas, Horseshoe kidney, Abnormal heart morphology, Pancy... |
OMIM:227646 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux... |
OMIM:613658 |
| Cockayne Syndrome |
|
Urinary incontinence, Renal hypoplasia, Elevated circulating hepatic transaminase concentration, ... |
ORPHA:191 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Erythema, Elevated circulating hepatic transaminase concentration, Decreased HDL cholesterol conc... |
OMIM:256040 |
| Intestinal Dysmotility Syndrome |
|
High palate, Decreased intestinal transit time, Weight loss, Failure to thrive |
OMIM:620045 |
| Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cervical ... |
ORPHA:3260 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Decreased circulating iron concentration, Gastroesophageal reflux, Increased circulating prolacti... |
ORPHA:438213 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormality... |
ORPHA:537 |
| Igg4-Related Kidney Disease |
|
Chronic kidney disease, Lymphadenitis, Abnormal mesentery morphology, Urethritis, Hematuria, Abno... |
ORPHA:449395 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Microcytic anemia |
ORPHA:293967 |
| Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Weight loss, Hepatome... |
OMIM:219800 |
| Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Biliary cirrhosis, Elevated circulating hepatic transaminase concent... |
OMIM:613471 |
| Frontonasal Dysplasia 1 |
|
Cranium bifidum occultum, Anterior basal encephalocele, Microphthalmia |
OMIM:136760 |
| Infantile Krabbe Disease |
|
Cachexia, Abnormal circulating enzyme concentration or activity, Gastroesophageal reflux, Failure... |
ORPHA:206436 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Increased adipose tissue around the neck, Increased facial adipose tissue, Elbow flex... |
OMIM:248370 |
| Diamond-Blackfan Anemia 5 |
|
Erythroid hypoplasia, Leukopenia, Reticulocytopenia, Macrocytic anemia |
OMIM:612528 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Failure to thrive, Elevated stool chloride content, Hypokalemia, Hyponatremia, Hypochloremia, Inc... |
OMIM:214700 |
| Parathyroid Carcinoma |
|
Nephrocalcinosis, Peptic ulcer, Parathyroid carcinoma, Renal hamartoma, Pancreatic adenocarcinoma... |
ORPHA:143 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Tropical Endomyocardial Fibrosis |
|
Hypoalbuminemia, Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Righ... |
ORPHA:75565 |
| Microphthalmia, Isolated 8 |
|
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:615113 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Decreased testicular size, Obesity, Cachexia, High palate, Hypoplasia of penis |
ORPHA:85293 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormality... |
ORPHA:36426 |
| Nijmegen Breakage Syndrome |
|
Acute leukemia, Anal stenosis, Anorectal anomaly, Autoimmune hemolytic anemia, Cachexia, Thromboc... |
ORPHA:647 |
| Congenital Analbuminemia |
|
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... |
ORPHA:86816 |
| Pancreatic Colipase Deficiency |
|
Exocrine pancreatic insufficiency, Cholelithiasis, Megaloblastic anemia |
ORPHA:309108 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Pituitary growth hormone cell... |
ORPHA:730 |
| Braddock-Carey Syndrome 2 |
|
Thrombocytopenia, Microphthalmia |
OMIM:619981 |
| Brucellosis |
|
Hypersplenism, Weight loss, Glomerulonephritis, Hepatomegaly, Elevated circulating C-reactive pro... |
ORPHA:1304 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hepatic failure, Decreased circulating carnitin... |
ORPHA:159 |
| Ileal Neuroendocrine Tumor |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Tricuspid stenosis, Int... |
ORPHA:100078 |
| Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Proximal tu... |
OMIM:229600 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Microphthalmia |
OMIM:613153 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Impaired ... |
OMIM:608203 |
| Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia |
OMIM:601815 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Hypoamylasemia, Decreased circulating lipoprotein lipase concentration, Absent gallbladder, Reduc... |
ORPHA:556955 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Renal ... |
ORPHA:139402 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Acute kidney injury, Elevated circulating creatinine concentration, Unilateral... |
ORPHA:49041 |
| Pierpont Syndrome |
|
Microphthalmia |
ORPHA:487825 |
| 17Q12 Microduplication Syndrome |
|
Polyhydramnios, Microphthalmia |
ORPHA:261272 |
| Sheehan Syndrome |
|
Hyponatremia, Dry skin, Pallor, Normochromic anemia |
ORPHA:91355 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Generalized lipodystrophy, Decreased adipose tissue around neck, Hyperlipidemia, Loss of truncal ... |
OMIM:608612 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Microphthalmia |
OMIM:613730 |
| Familial Hypoaldosteronism |
|
Failure to thrive, Hyponatremia, Decreased urinary potassium, Proximal renal tubular acidosis, Re... |
ORPHA:427 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Cystathioninemia, Pallor, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Neutropen... |
OMIM:277400 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Elevated circulating hepatic transaminase concentration, ... |
ORPHA:79124 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Holoprosencephaly, Hydrocephalus, Anophthalmia, Microphthalmia |
ORPHA:77298 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Anemia, Lymphopenia, Portal hypertension, Thrombocytopenia |
OMIM:620365 |
| Takayasu Arteritis |
|
Hypertrophic cardiomyopathy, Gastrointestinal infarctions, Abnormal heart valve morphology, Abnor... |
ORPHA:3287 |
| Huntington Disease |
|
Weight loss, Abnormal circulating cholesterol concentration, Oral-pharyngeal dysphagia, Decreased... |
ORPHA:399 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Portal hypertension,... |
OMIM:263200 |
| Chédiak-Higashi Syndrome |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Jaundice, Hypoproteinemia, Incre... |
ORPHA:167 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Increased circulating lactate dehydrogenase concentration, Abnormal circulating protein concentra... |
ORPHA:747 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Polysplenia, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hypoplasia o... |
OMIM:200995 |
| Juvenile Polyposis Syndrome |
|
Hypoalbuminemia, Anemia, Hypokalemia |
OMIM:174900 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Hyperglycinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Low plasma citrulline, Hyper... |
OMIM:620358 |
| Immunodeficiency 22 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos... |
OMIM:615758 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anemia, Neutropenia, Anisopoikilocytosis |
OMIM:619835 |
| Pierpont Syndrome |
|
Microphthalmia |
OMIM:602342 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Oligohydramnios, Encephalocele, Microphthalmia |
ORPHA:228390 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Urinary incontinence, Cachexia, Dysphagia |
ORPHA:300605 |
| Ataxia With Vitamin E Deficiency |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:277460 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Anemia |
ORPHA:3405 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in... |
ORPHA:562639 |
| Lead Poisoning |
|
Chronic kidney disease, Small for gestational age, Imbalanced hemoglobin synthesis, Increased LDL... |
ORPHA:330015 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia |
ORPHA:702 |
| Trisomy 18 |
|
Cryptorchidism, Ventricular septal defect, Hydronephrosis, Cachexia, Anal atresia, Esophageal atr... |
ORPHA:3380 |
| Cat-Eye Syndrome |
|
Microphthalmia |
ORPHA:195 |
| Obesity Due To Congenital Leptin Deficiency |
|
Obesity, Hypertriglyceridemia |
ORPHA:66628 |
| Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Umbilical hernia, Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Lipodystrophy... |
OMIM:608594 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Dilated car... |
OMIM:615688 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Anemia, Cirrhosis, Polycythemia, Hepatic arteriovenous malformation |
OMIM:600376 |
| Rheumatoid Arthritis |
|
Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:180300 |
| Ciliary Dyskinesia, Primary, 53 |
|
Abdominal situs inversus, Hypoplastic spleen, Polysplenia |
OMIM:620642 |
| Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... |
ORPHA:449432 |
| Warburg Micro Syndrome 1 |
|
Microphthalmia |
OMIM:600118 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Obesity, Hypertriglyceridemia |
ORPHA:179494 |
| Neutral Lipid Storage Myopathy |
|
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... |
ORPHA:98908 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Hypokalemia, Abnormality of urine homeostasis, Increased body w... |
ORPHA:1501 |
| Imerslund-Grasbeck Syndrome 1 |
|
Megaloblastic anemia |
OMIM:261100 |
| Amyotrophic Lateral Sclerosis |
|
Tongue atrophy, Cachexia, Xerostomia, Dysphagia |
ORPHA:803 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus, Microphthalmia |
OMIM:300863 |
| Peutz-Jeghers Syndrome |
|
Iron deficiency anemia, Bile duct polyp, Neoplasm of the pancreas, Biliary tract abnormality |
OMIM:175200 |
| Systemic Capillary Leak Syndrome |
|
Oliguria, Leukocytosis, Renal insufficiency, Weight loss, Pancreatitis, Myocarditis, Pericarditis |
ORPHA:188 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Gastroesophageal reflux, Persistence of hemoglobin F, Ventricular septal defect, Hiatus hernia, A... |
OMIM:619769 |
| Imerslund-Grasbeck Syndrome 2 |
|
Anemia, Megaloblastic anemia |
OMIM:618882 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Pallor |
ORPHA:439218 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Umbilical hernia, Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Lipodystrophy... |
OMIM:269700 |
| Prader-Willi Syndrome |
|
Osteopenia, Class III obesity, Decreased HDL cholesterol concentration, Failure to thrive in infa... |
OMIM:176270 |
| Hamamy Syndrome |
|
Microcytic anemia, Hypochromic anemia |
OMIM:611174 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Cellulitis, Osteopenia, Widened atrophic scar, Umbilical hernia, Inguinal hernia, Joint hypermobi... |
ORPHA:536532 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia |
OMIM:249270 |
| Gallbladder Disease 1 |
|
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... |
OMIM:600803 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Weight loss... |
ORPHA:103918 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Decreased circulating carnitine co... |
ORPHA:3337 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Urinary retention, Hypomagnesemia, Obesity, Decreased urinary potassium, We... |
ORPHA:79102 |
| Methylmalonic Aciduria, Cbla Type |
|
Pancytopenia, Hyperglycinemia, Hyperammonemia, Anemia, Neutropenia, Thrombocytopenia, Hepatomegal... |
OMIM:251100 |
| Solitary Median Maxillary Central Incisor |
|
Holoprosencephaly, Anophthalmia, Microphthalmia |
OMIM:147250 |
| Pulmonary Arteriovenous Malformation |
|
Iron deficiency anemia, Liver abscess |
ORPHA:2038 |
| Feingold Syndrome |
|
Esophageal atresia, Abnormality of the spleen, Annular pancreas, Duodenal atresia |
ORPHA:1305 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Neutropenia, Jaundice |
OMIM:250940 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia, Polycystic liver disease, Polysplenia |
OMIM:211890 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Loeffler Endocarditis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Endocardial fibrosis, Abnormal heart valve mor... |
ORPHA:75566 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... |
OMIM:265300 |
| Mirizzi Syndrome |
|
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia, Dark... |
ORPHA:521219 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... |
ORPHA:100085 |
| Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Hydrocephalus, Microphthalmia |
OMIM:615249 |
| Wild Type Attr Amyloidosis |
|
Nephropathy, Aortic valve stenosis, Hypertrophic cardiomyopathy, Renal insufficiency, Elevated ci... |
ORPHA:330001 |
| Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Lymphopenia, Jaundice, Elevated circulating creatinine con... |
ORPHA:99826 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, A... |
ORPHA:29072 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Leukocytosis, Hypocalcemia, Pallor, Hyponatremia, Pancreatitis, Thrombocytopenia, Hyperkalemia, H... |
ORPHA:544482 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
| Reni Syndrome |
|
Hypoalbuminemia, Hypertriglyceridemia |
OMIM:617575 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Anemia, Decreased... |
OMIM:612301 |
| Primary Hyperoxaluria Type 1 |
|
Anemia, Hyperoxaluria, Abnormal circulating enzyme concentration, Calcinosis |
ORPHA:93598 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemia, Anemic pallor |
ORPHA:329971 |
| Thymoma |
|
Aplastic anemia, Imbalanced hemoglobin synthesis, Leukemia, Pure red cell aplasia, Decreased circ... |
ORPHA:99867 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Failure to thrive, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Abnormal liver par... |
ORPHA:456312 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
| Hyperlipoproteinemia, Type I |
|
Lactescent serum, Hyperlipidemia, Increased circulating chylomicron concentration, Hypercholester... |
OMIM:238600 |
| Occipital Horn Syndrome |
|
Ureteral obstruction, Hydronephrosis, Bladder diverticulum, Hiatus hernia, High palate, Decreased... |
OMIM:304150 |
| Meckel Syndrome, Type 7 |
|
Aortic valve stenosis, Multicystic kidney dysplasia, Biliary cirrhosis, Cholestasis, Hepatospleno... |
OMIM:267010 |
| Rett Syndrome |
|
Cachexia, Gastroesophageal reflux |
OMIM:312750 |
| Bohring-Opitz Syndrome |
|
Gastroesophageal reflux, Failure to thrive, Supernumerary nipple, Intestinal malrotation, Vesicou... |
OMIM:605039 |
| Myopathy, Mitochondrial, And Ataxia |
|
Pallor, Elevated circulating creatine kinase concentration |
OMIM:617675 |
| Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym... |
ORPHA:464329 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Macrocytic anemia, Hypersegmentation of neutrophil nuclei |
OMIM:615578 |
| Microtriplication 11Q24.1 |
|
Hyperlipidemia, Obesity, Limitation of joint mobility |
ORPHA:289522 |
| Pelvis-Shoulder Dysplasia |
|
Spina bifida occulta, Microphthalmia |
OMIM:169550 |
| Diamond-Blackfan Anemia 11 |
|
Bone marrow hypocellularity, Neutropenia, Anemia of inadequate production |
OMIM:614900 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia |
ORPHA:48431 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Anemia, Cirrhosis, Polycythemia, Hepatic arteriovenous malformation |
OMIM:187300 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic nerve hypoplasia, Occipital encephalocele, Hydrocephalus, Microphthalmia |
ORPHA:370959 |
| Isolated Posterior Meningocele |
|
Hydromyelia, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube... |
ORPHA:268810 |
| Hyperparathyroidism, Neonatal Severe |
|
Splenomegaly, Anemia, Hypophosphatemia, Calcinosis, Hepatomegaly, Hypercalcemia |
OMIM:239200 |
| Adams-Oliver Syndrome |
|
Ascites, Leukopenia, Encephalocele, Hydrocephalus, Thrombocytopenia, Microphthalmia |
ORPHA:974 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Failure to thrive, Xanthelasma, Gout, Increased susceptibility to fractures, Hyperuri... |
ORPHA:79259 |
| Hereditary Orotic Aciduria |
|
Anemia, Splenomegaly, Impaired T cell function |
ORPHA:30 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
| Fanconi Anemia, Complementation Group C |
|
Bone marrow hypocellularity, Pancytopenia, Anemia, Reticulocytopenia, Anemic pallor, Neutropenia,... |
OMIM:227645 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
| Familial Chylomicronemia Syndrome |
|
Failure to thrive, Increased circulating chylomicron concentration, Hyperlipidemia, Decreased bod... |
ORPHA:444490 |
| Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
| Duodenal Atresia |
|
Annular pancreas, Duodenal atresia, Abnormality of the pancreas |
ORPHA:1203 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Abnormal large intestine morphology, Intestinal polyposis, Cachexia, Narrow palate, Hamartomatous... |
ORPHA:109 |
| Congenital Tufting Enteropathy |
|
Cholestatic liver disease, Failure to thrive, Abnormal large intestinal mucosa morphology, Villou... |
ORPHA:92050 |
| Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
| Nephronophthisis 13 |
|
Renal hypoplasia, Nephronophthisis, Intrahepatic bile duct dilatation, Stage 5 chronic kidney dis... |
OMIM:614377 |
| Degcags Syndrome |
|
Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Pancytopenia, Leukopenia, Pallor, Anemia, Ab... |
OMIM:619488 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Anemia, Reticulocytopenia, Anemic pallor, Neutropenia, Thrombocytopenia, Leukemia |
OMIM:600901 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Cystathioninemia, Elevated circulating propionylcarnitine concentration, Pancytopenia, Anemia, Me... |
OMIM:277380 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Oculopharyngodistal Myopathy |
|
High, narrow palate, Oral-pharyngeal dysphagia, Weight loss, High palate, Impaired oropharyngeal ... |
ORPHA:98897 |
| Senior-Loken Syndrome 1 |
|
Anemia, Elevated circulating creatinine concentration |
OMIM:266900 |
| Medullary Thyroid Carcinoma |
|
Pheochromocytoma, Abnormal liver parenchyma morphology, Weight loss, Lymphadenopathy, Nodular goi... |
ORPHA:1332 |
| Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
| Sarcoidosis |
|
Abnormal lymph node morphology, Weight loss, Hepatomegaly, Tubulointerstitial nephritis, Enlargem... |
ORPHA:797 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Oligohydramnios, Microphthalmia |
OMIM:619053 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Dehydration, Microphthalmia |
OMIM:214150 |
| Vacterl With Hydrocephalus |
|
Anophthalmia, Hydrocephalus, Spina bifida, Microphthalmia, Polyhydramnios, Aqueductal stenosis |
ORPHA:3412 |
| Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
| Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Steatorrhea, Cachexia, Duodenal ulcer |
ORPHA:3217 |
| Nephroblastoma |
|
Hematuria, Neoplasm of the liver, Weight loss, Lymphadenopathy |
ORPHA:654 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Biliary cirrhosi... |
ORPHA:227990 |
| Glycerol Kinase Deficiency |
|
Pathologic fracture, Hypertriglyceridemia, Osteoporosis, Hyperglycerolemia, Small for gestational... |
OMIM:307030 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Obesity, Joint hypermobility, Hypertriglyceridemia, Craniosynostosis, Hypercalcemia |
ORPHA:369837 |
| Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
| Joubert Syndrome 14 |
|
Hydrocephalus, Meningocele, Encephalocele, Microphthalmia |
OMIM:614424 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus, Microphthalmia |
ORPHA:163966 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:93267 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Anemia, Reticulocytopenia, Anemic pallor, Neutropenia, Thrombocytopenia, Leukemia |
OMIM:227650 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia |
OMIM:300887 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Exercise-induced myoglobinuria, Erythroid hyperplasia, Renal insufficiency, Reticulocytosis, Hemo... |
OMIM:300653 |
| Neuroendocrine Tumor Of The Colon |
|
Abnormal pulmonary valve cusp morphology, Elevated circulating hepatic transaminase concentration... |
ORPHA:100080 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Nephrocalcinosis, Hyperchloriduria, Increased serum prostaglandin E2, Renal ... |
OMIM:601678 |
| Bartter Syndrome Type 4 |
|
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Small for gestational age, Failure... |
ORPHA:89938 |
| Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Cardiomyopathy, Elevated circulating creatine kinase concentration, ... |
ORPHA:93672 |
| Fanconi Anemia, Complementation Group S |
|
Anemia, Microphthalmia |
OMIM:617883 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris |
OMIM:604229 |
| Immunodeficiency 31C |
|
Protein-losing enteropathy, Lymphopenia, Villous atrophy, Autoimmune hemolytic anemia, Splenomega... |
OMIM:614162 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Ethmoidal encephalocele, Bilateral microphthalmos, Optic nerve hypoplasia |
OMIM:607597 |
| Microcephaly-Micromelia Syndrome |
|
Neonatal death, Aqueductal stenosis, Oligohydramnios, Microphthalmia |
OMIM:251230 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
| Klatskin Tumor |
|
Weight loss, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis |
ORPHA:99978 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatic steatosis, Pancre... |
OMIM:616263 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukopenia, Leukocytosis, Hematuria, Weight loss, Lymphadenopathy, Neutropenia, Thr... |
ORPHA:520 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia, Lymphedema |
OMIM:152950 |
| Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Polyhydramnios, Septo-optic dysplasia, Hydrocephalus, Microphthalmia |
ORPHA:3301 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased circulating cortisol level, Hyperaldosteronism, Dorsocervical fat pad, Hyperlipidemia, ... |
ORPHA:189427 |
| Common Variable Immunodeficiency |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Lymphopeni... |
ORPHA:1572 |
| Trisomy 13 |
|
Aplasia/Hypoplasia of the iris, Hydrops fetalis, Anophthalmia, Microphthalmia |
ORPHA:3378 |
| Erythrokeratodermia Variabilis |
|
Weight loss, Abnormal testis morphology |
ORPHA:317 |
| Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619802 |
| Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
| Joubert Syndrome 22 |
|
Microphthalmia |
OMIM:615665 |
| Hirschsprung Disease |
|
Failure to thrive in infancy, Functional abnormality of the gastrointestinal tract, Intestinal po... |
ORPHA:388 |
| Bartter Syndrome, Type 3 |
|
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Increased urinary potassium, Impaired renal tu... |
OMIM:607364 |
| Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary dopamine level, Elevated urinary homovanillic acid, Failure to thrive, Elevated ... |
OMIM:256700 |
| Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology, Megaloblastic anemia |
ORPHA:2575 |
| Birk-Aharoni Syndrome |
|
Macrocytic anemia |
OMIM:620071 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Bone marrow hypocellularity, Aplastic anemia, Dry skin, Pancytopenia, Leukopenia, Macrocytic anem... |
OMIM:613990 |
| Meckel Syndrome 14 |
|
Occipital encephalocele, Oligohydramnios, Increased nuchal translucency, Microphthalmia, Holopros... |
OMIM:619879 |
| Good Syndrome |
|
Anemia, Decreased circulating antibody level, Thrombocytopenia, Abnormal leukocyte morphology |
ORPHA:169105 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Oligohydramnios, Increased nuchal translucency, Microphthalmia |
OMIM:618494 |
| Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Macular edema, Lymphedema |
ORPHA:891 |
| Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
| Non-Functioning Pituitary Adenoma |
|
Pallor, Anemia of inadequate production |
ORPHA:91349 |
| Attrv30M Amyloidosis |
|
Nephropathy, Cardiomyopathy, Cardiomegaly, Weight loss, Abnormal renal physiology |
ORPHA:85447 |
| Gm1 Gangliosidosis |
|
Gastroesophageal reflux, Failure to thrive, Cardiomyopathy, Abnormal heart morphology, Hepatosple... |
ORPHA:354 |
| Jacobsen Syndrome |
|
Annular pancreas, Failure to thrive, Cryptorchidism, Ventricular septal defect, Atrial septal def... |
OMIM:147791 |
| Neuroendocrine Tumor Of The Rectum |
|
Hematochezia, Abnormal pulmonary valve cusp morphology, Elevated circulating hepatic transaminase... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Hematochezia, Abnormal pulmonary valve cusp morphology, Elevated circulating hepatic transaminase... |
ORPHA:100082 |
| Kenny-Caffey Syndrome, Type 2 |
|
Anemia, Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia |
OMIM:127000 |
| Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Generalized lipodystrophy, Hyperlipidemia, Acroosteolysis of distal phalanges (feet), Calcinosis,... |
ORPHA:90154 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Anemia, Lymphopenia, Agammaglobulinemia, Abnormality of the pancreas |
ORPHA:935 |
| Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
| Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
| Meckel Syndrome |
|
Accessory spleen, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the tongue, Furrowed tongue... |
ORPHA:564 |
| Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly |
ORPHA:63260 |
| Agammaglobulinemia, X-Linked |
|
Decreased circulating IgG level, Decreased circulating IgE, Decreased circulating IgA level, Agam... |
OMIM:300755 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Unilateral microphthalmos, Bilateral microphthalmos |
OMIM:619318 |
| Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Elevated gamma-glutamyltransferase level, Chronic noninfectious lymphaden... |
ORPHA:100086 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Congenital shortened small intestine, Ventricular septal defect, Bicuspid aortic valve, Atrial se... |
OMIM:265380 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Hydrocephalus, Microphthalmia |
OMIM:616538 |
| Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Obesity, Hyperuricemia, Truncal obesity, Hypertriglyceri... |
OMIM:203800 |
| Gitelman Syndrome |
|
Hypermagnesemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Iron deficiency anemia, Neoplasm of t... |
ORPHA:358 |
| Distal Deletion 12Q |
|
High, narrow palate, Microglossia, Annular pancreas, Pituitary adenoma, Congenital hypertrophy of... |
ORPHA:96149 |
| Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Thrombocytopenia, Normochromic anemia, Elevated circulating creatine kinase conce... |
OMIM:618775 |
| Acute Transverse Myelitis |
|
Urinary retention, Urinary bladder sphincter dysfunction, Paralytic ileus, Urinary incontinence, ... |
ORPHA:139417 |
| Fryns Syndrome |
|
Ectopic pancreatic tissue, Meckel diverticulum, Polysplenia, Intestinal malrotation, Large for ge... |
OMIM:229850 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Hepatosplenomegaly, Weight loss, Hemophagocytosis |
ORPHA:86884 |
| Nephronophthisis 4 |
|
Anemia |
OMIM:606966 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Gastroesophageal reflux, Volvulus, Abnormal hemoglobin, Cryptorchidism, Hydronephrosis, Aganglion... |
ORPHA:847 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Intestinal obstruction, Crohn's disease, Weight loss, Ulcera... |
OMIM:266600 |
| Atypical Werner Syndrome |
|
Lipoatrophy, Chondrocalcinosis, Limitation of joint mobility, Failure to thrive, Sclerosis of han... |
ORPHA:79474 |
| Postinfectious Vasculitis |
|
Bacterial endocarditis, Cardiomyopathy, Elevated haptoglobin level, Orchitis, Hematuria, Proteinu... |
ORPHA:48435 |
| Feingold Syndrome 1 |
|
Accessory spleen, Annular pancreas, Tricuspid stenosis, Polysplenia, Jejunal atresia, Ventricular... |
OMIM:164280 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hep... |
OMIM:620376 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Biliary cirrhosi... |
ORPHA:227982 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Microphthalmia |
ORPHA:1791 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Edema, Umbilical hernia |
ORPHA:2505 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concentration, Pa... |
ORPHA:77293 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia |
ORPHA:2788 |
| Congenital Primary Aphakia |
|
Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi... |
ORPHA:83461 |
| Vexas Syndrome |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Macrocytic anemia |
OMIM:301054 |
| Tyrosinemia, Type Iii |
|
Elevated circulating hepatic transaminase concentration, 4-Hydroxyphenylpyruvic aciduria, 4-hydro... |
OMIM:276710 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Generalized lipodystrophy, Joint stiffness, Osteolytic defects of the phalanges of th... |
OMIM:619127 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Exocrine pancreatic insufficiency, Iron deficiency anemia |
ORPHA:309031 |
| Atelosteogenesis Type I |
|
Multiple renal cysts, Malrotation of colon, Cleft palate, Abnormal pancreatic duct morphology |
ORPHA:1190 |
| Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Weight loss, Splenomegaly |
ORPHA:33577 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Failure to thrive, Decreased adipose tissue around neck, Absence of subcutaneous fat, Reduced sub... |
OMIM:606721 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Weight loss |
ORPHA:1164 |
| Nephronophthisis 11 |
|
Anemia, Hepatic fibrosis |
OMIM:613550 |
| Anaplastic Thyroid Carcinoma |
|
Goiter, Tracheoesophageal fistula, Weight loss, Lymphadenopathy, Nodular goiter, Dysphagia |
ORPHA:142 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
| Frontorhiny |
|
Basal encephalocele, Cranium bifidum occultum, Encephalocele, Microphthalmia |
ORPHA:391474 |
| Autosomal Dominant Keratitis |
|
Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris... |
ORPHA:2334 |
| Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
| Simple Cryoglobulinemia |
|
Nephritis, Gastrointestinal hemorrhage, Abnormal heart morphology, Renal insufficiency, Chronic l... |
ORPHA:91139 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Nodular regenerative hyperplasia of liver, Abnormality of the hepatic vasculat... |
ORPHA:247691 |
| Acquired Hypertrichosis Lanuginosa |
|
Weight loss, Lymphadenopathy, Macroglossia, Glossitis, Ovarian neoplasm |
ORPHA:2221 |
| Jacobsen Syndrome |
|
Aortic valve stenosis, Bone marrow hypocellularity, Multicystic kidney dysplasia, Hypoplastic lef... |
ORPHA:2308 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
| Fanconi Anemia, Complementation Group F |
|
Leukopenia, Polyhydramnios, Thrombocytopenia, Microphthalmia, Anemia |
OMIM:603467 |
| Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Ureteral stenosis, Renal insufficiency, Intestinal obstruction, Hema... |
ORPHA:900 |
| Malignant Peritoneal Mesothelioma |
|
Peritonitis, Ileus, Weight loss |
ORPHA:168811 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia |
OMIM:618183 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
| Multiple Endocrine Neoplasia Type 2 |
|
Cervical lymphadenopathy, Neoplasm of the liver, Hypercalcemia, Pallor |
ORPHA:653 |
| Spondylo-Ocular Syndrome |
|
Aplasia/Hypoplasia of the lens, Microphthalmia |
ORPHA:85194 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
| 1P36 Deletion Syndrome |
|
Gastroesophageal reflux, Annular pancreas, Dilated cardiomyopathy, Failure to thrive, Abnormal he... |
ORPHA:1606 |
| Campomelia, Cumming Type |
|
Multicystic kidney dysplasia, Abnormal intestine morphology, Multiple renal cysts, Hepatomegaly, ... |
ORPHA:1318 |
| Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia, Small for gestational age |
OMIM:256300 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Lipoatrophy, Hypertriglyceridemia |
ORPHA:363618 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Hepatic fibrosis, Microglossia, Hamartoma of tongue, Intestinal malrotation, Ventricular septal d... |
OMIM:263520 |
| Rat-Bite Fever |
|
Lymphadenitis, Parotitis, Weight loss, Pancreatitis, Myocarditis, Anemia, Endocarditis, Pericarditis |
ORPHA:31205 |
| Mosaic Trisomy 9 |
|
Oligohydramnios, Spina bifida, Microphthalmia, Polyhydramnios, Asplenia, Hydrops fetalis |
ORPHA:99776 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis |
OMIM:259730 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma, Umbilical hernia |
OMIM:618914 |
| Bronchial Neuroendocrine Tumor |
|
Abnormal pulmonary valve cusp morphology, Hepatic failure, Chronic noninfectious lymphadenopathy,... |
ORPHA:97287 |
| Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Pancreati... |
OMIM:167800 |
| Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
| Autoimmune Lymphoproliferative Syndrome |
|
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... |
ORPHA:3261 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Gastroesophageal reflux, Hypertrophic cardiomyopathy, Abnormal pericardium morphology, Renal insu... |
ORPHA:183 |
| Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops fetalis, Micropht... |
OMIM:153400 |
| Stromme Syndrome |
|
Accessory spleen, Hydrocephalus, Stillbirth, Microphthalmia, Optic nerve hypoplasia |
OMIM:243605 |
| Multiple Endocrine Neoplasia Type 1 |
|
Pituitary prolactin cell adenoma, Pituitary thyrotropic cell adenoma, Pituitary null cell adenoma... |
ORPHA:652 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Umbilical hernia, Encephalocele, Hydrocephalus, Microphthalmia, Polyhydramnios, Holoprosencephaly |
ORPHA:2166 |
| Choreoacanthocytosis |
|
Dilated cardiomyopathy, Increased circulating lactate dehydrogenase concentration, Elevated circu... |
ORPHA:2388 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Hypertrophic cardiomyopathy, Vesicoureteral reflux, Noncompaction cardiomyopathy, Left ventricula... |
ORPHA:3208 |
| Chronic Beryllium Disease |
|
Mediastinal lymphadenopathy, Weight loss, Abnormal proportion of CD4-positive T cells |
ORPHA:133 |
| Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Steroid-responsive anemia, Reticulocytopenia, Anemia, Patent ductus arteriosus |
OMIM:613309 |
| Microphthalmia, Syndromic 9 |
|
Multilobulated spleen, Hypoplastic spleen, Patent ductus arteriosus |
OMIM:601186 |
| Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia |
OMIM:618652 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:614833 |
| Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Limitation of joint mobility, Hyperlipidemia, Acroosteolysis of distal phalanges (feet), Osteolyt... |
ORPHA:90153 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Hydrocephalus, Holoprosencephaly, Encephalocele, Microphthalmia |
OMIM:253800 |
| Aromatase Deficiency |
|
Delayed epiphyseal ossification, Osteopenia, Obesity, Eunuchoid habitus, Hyperlipidemia, Osteopor... |
ORPHA:91 |
| Incontinentia Pigmenti |
|
Erythema, Eosinophilia, Leukocytosis, Pallor |
OMIM:308300 |
| Kasabach-Merritt Phenomenon |
|
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An... |
ORPHA:2330 |
| Fanconi Anemia |
|
Aplasia/Hypoplasia of the uvula, Cryptorchidism, Weight loss, Atrial septal defect, High palate, ... |
ORPHA:84 |
| Familial Multiple Lipomatosis |
|
Lipodystrophy, Hyperlipidemia, Increased adipose tissue |
ORPHA:199276 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia |
OMIM:222300 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia |
ORPHA:3191 |
| Eosinophilic Fasciitis |
|
Eosinophilia, Abnormal eosinophil morphology, Weight loss |
ORPHA:3165 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Hydrocephalus, Buphthalmos, Encephalocele, Microphthalmia |
OMIM:613150 |
| Anterior Segment Dysgenesis 2 |
|
Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia |
OMIM:610256 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Short hard palate, Cachexia, Abnormal mitral valve morphology |
ORPHA:1969 |
| Osteosarcoma |
|
Abnormal circulating lactate dehydrogenase concentration, Weight loss, Increased circulating lact... |
ORPHA:668 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
High palate, Annular pancreas, Atrial septal defect, Elevated circulating alkaline phosphatase co... |
OMIM:618162 |
| Walker-Warburg Syndrome |
|
Hydrocephalus, Anophthalmia, Microphthalmia |
ORPHA:899 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Anemia, Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:174000 |
| Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
| Wrinkly Skin Syndrome |
|
Failure to thrive, Cryptorchidism, High palate, Atrial septal dilatation, High nonceruloplasmin-b... |
ORPHA:2834 |
| Trisomy 8P |
|
Bifid uvula, Nephrocalcinosis, Malrotation of small bowel, Annular pancreas, Tetralogy of Fallot,... |
ORPHA:264450 |
| Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Neutropenia, Microphthalmia |
OMIM:616395 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Elevated circulating palmitoleylcarnitine concentration, Reduced number of intrahepatic bile duct... |
ORPHA:79284 |
| Seckel Syndrome 2 |
|
Microphthalmia |
OMIM:606744 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Holoprosencephaly, Microphthalmia |
OMIM:612530 |
| Pseudotrisomy 13 Syndrome |
|
Hydrocephalus, Holoprosencephaly, Encephalocele, Microphthalmia |
OMIM:264480 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Dilated cardiomyopathy, Intestinal pseudo-obstruction, Mitral valve prolapse, Weight loss, Dyspha... |
OMIM:607459 |
| Familial Thrombocytosis |
|
Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Weight loss, Thrombocytosis |
ORPHA:71493 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Failure to thrive, Pancreatic fibrosis, Ventricular septal defect |
OMIM:615503 |
| Heart And Brain Malformation Syndrome |
|
Polyhydramnios, Microphthalmia |
OMIM:616920 |
| Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Hydrocephalus, Microphthalmia |
OMIM:613001 |
| 19P13.12 Microdeletion Syndrome |
|
Hyperlipidemia, Craniosynostosis, Obesity, Arthrogryposis multiplex congenita |
ORPHA:254346 |
| Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
| Pancreatic And Cerebellar Agenesis |
|
Secundum atrial septal defect, Pancreatic hypoplasia, Failure to thrive, Anemia, Pancreatic aplasia |
OMIM:609069 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia |
OMIM:610756 |
| Erdheim-Chester Disease |
|
Abnormal pericardium morphology, Renal insufficiency, Abnormal aortic valve morphology, Hydroneph... |
ORPHA:35687 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:614105 |
| Oculopharyngodistal Myopathy 1 |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concent... |
OMIM:164310 |
| Pancreatic Agenesis 2 |
|
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Steatorrhea, Small for gestational age,... |
OMIM:615935 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Biliary cirrhosis, Skin ulcer, Lymphopenia, Leukopenia, Chronic hepatitis, Dec... |
ORPHA:289390 |
| Joubert Syndrome 37 |
|
Microphthalmia |
OMIM:619185 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Failure to thrive in infancy, Hypertriglyceridemia, Failure to thrive, Joint hypermobility |
OMIM:619418 |
| Tangier Disease |
|
Hypocholesterolemia, Hepatosplenomegaly, Thrombocytopenia, Hypertriglyceridemia, Anemia |
ORPHA:31150 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Iron deficiency anemia |
ORPHA:93315 |
| Frontonasal Dysplasia 2 |
|
Oligohydramnios, Encephalocele, Microphthalmia |
OMIM:613451 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Granulocytopenia, Macrocytic anemia |
OMIM:606164 |
| Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
| Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Bilateral microphthalmos, Hydrocephalus, Spina bifida |
ORPHA:2839 |
| Pancreatoblastoma |
|
Pancreatic calcification, Jaundice, Weight loss, Abnormal lymph node morphology |
ORPHA:677 |
| Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Hematuria, Mitral valve calcification, Weight loss, Hepatomegaly, Increa... |
ORPHA:60025 |
| Temtamy Syndrome |
|
Microphthalmia |
OMIM:218340 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
| Mycophenolate Mofetil Embryopathy |
|
Hydrops fetalis, Hydrocephalus, Microphthalmia |
ORPHA:268249 |
| Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Hepatoblastoma, Iron deficiency anemia |
ORPHA:261584 |
| Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
| 8P23.1 Microdeletion Syndrome |
|
Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventricular canal ... |
ORPHA:251071 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:163649 |
| Seckel Syndrome 10 |
|
Elevated hemoglobin A1c, Hypertriglyceridemia |
OMIM:617253 |
| Alg3-Cdg |
|
Neural tube defect |
ORPHA:79321 |
| Giant Cell Arteritis |
|
Hepatic failure, Double outlet right ventricle with subpulmonary ventricular septal defect withou... |
ORPHA:397 |
| Moebius Syndrome |
|
Microphthalmia |
OMIM:157900 |
| Sandestig-Stefanova Syndrome |
|
Microphthalmia |
OMIM:618804 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Abnormal pericardium morphology, Gastrointestina... |
ORPHA:679 |
| Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia |
ORPHA:220295 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatic fibrosis, Acute kidney injury, Nephronophthisis, Macroglossia, Bifid uvula, Failure to th... |
OMIM:266920 |
| Proteus Syndrome |
|
Long penis, Thymus hyperplasia, Neoplasm of the thymus, Splenomegaly, Enlarged polycystic ovaries... |
ORPHA:744 |
| Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Semilobar holoprosencephaly, Bilateral microphthalmos, Hydrocephalus, M... |
OMIM:610828 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Hydrocephalus, Optic nerve hypoplasia, Encephalocele, Microphthalmia |
OMIM:614643 |
| Congenital Fibrinogen Deficiency |
|
Splenic rupture, Microphthalmia |
ORPHA:335 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Anterior pituitary agenesis, Hypoplastic tricuspid valve, Pancreatic hypoplasia, Congenital defec... |
ORPHA:2255 |
| Rere-Related Neurodevelopmental Syndrome |
|
Microphthalmia |
ORPHA:494344 |
| Baraitser-Winter Syndrome 1 |
|
Microphthalmia |
OMIM:243310 |
| Bohring-Opitz Syndrome |
|
Cholelithiasis, Annular pancreas, Urinary retention, Cardiomegaly, Severe failure to thrive, Abno... |
ORPHA:97297 |
| Lynch Syndrome |
|
Gastrointestinal hemorrhage, Pituitary adenoma, Cardiac diverticulum, Colon cancer, Pancreatic ad... |
ORPHA:144 |
| Sacral Defect With Anterior Meningocele |
|
Hydromyelia, Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract |
OMIM:600145 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Microphthalmia |
OMIM:301108 |
| Schinzel-Giedion Syndrome |
|
Annular pancreas, Anteriorly placed anus, Abnormal heart morphology, Abnormality of the ureter, F... |
ORPHA:798 |
| Cartilage-Hair Hypoplasia |
|
Lymphopenia, Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Conge... |
OMIM:250250 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Pallor |
ORPHA:137675 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Anencephaly, Encephalocele, Microphthalmia |
OMIM:619148 |
| Curry-Jones Syndrome |
|
Occipital meningocele, Lipomyelomeningocele, Microphthalmia |
OMIM:601707 |
| Graves Disease |
|
Weight loss, Goiter |
OMIM:275000 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Moderate albuminuria, Ketonuria, Glycosuria, Pancreatic hypoplasia, Failure to thrive, Abnormal h... |
ORPHA:99885 |
| Joubert Syndrome 2 |
|
Hydrocephalus, Encephalocele, Microphthalmia |
OMIM:608091 |
| Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Weight loss |
OMIM:191390 |
| Marfan Syndrome |
|
High, narrow palate, Slender build, Mitral valve prolapse, Tricuspid valve prolapse, Cachexia, Mi... |
ORPHA:558 |
| Intellectual Developmental Disorder, X-Linked 112 |
|
Enuresis nocturna, Enuresis, Gastroesophageal reflux, Volvulus, Horseshoe kidney, Abnormal heart ... |
OMIM:301111 |
| Pneumocystosis |
|
Abnormal neutrophil count, Weight loss, Increased circulating lactate dehydrogenase concentration |
ORPHA:723 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Bilateral microphthalmos, Umbilical hernia |
ORPHA:369891 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Macrocytic anemia |
ORPHA:98673 |
| Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Microphthalmia |
ORPHA:139471 |
| Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Joint hemorrhage, Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Gastroesophageal reflux, Annular pancreas, Furrowed tongue, Vesicoureteral reflux, Cryptorchidism... |
OMIM:616975 |
| Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
| Microphthalmia, Syndromic 5 |
|
Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:610125 |
| Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
| Glycogen Storage Disease Ia |
|
Xanthelasma, Hyperlipidemia, Gout, Hyperuricemia, Osteoporosis |
OMIM:232200 |
| Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Weight loss, Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney |
ORPHA:79128 |
| Yao Syndrome |
|
Ventricular hypertrophy, Xerostomia, Nephrolithiasis, Weight loss, Pericarditis |
OMIM:617321 |
| Sarcoidosis, Susceptibility To, 1 |
|
Enlarged lacrimal glands, Inflammation of the large intestine, Pancytopenia, Pericardial effusion... |
OMIM:181000 |
| Refsum Disease |
|
Splenomegaly, Microphthalmia |
ORPHA:773 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Nephropathy, Chronic kidney disease, Gastroesophageal reflux, Failure to thrive, Stage 5 chronic ... |
ORPHA:1018 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Polyhydramnios, Edema, Microphthalmia |
OMIM:302960 |
| Stickler Syndrome |
|
Bifid uvula, Gastroesophageal reflux, Slender build, Mitral valve prolapse, Short hard palate, Ca... |
ORPHA:828 |
| Cap Polyposis |
|
Atrophic gastritis, Hematochezia, Weight loss, Colorectal polyposis |
ORPHA:160148 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Hypoalbuminemia, Thrombocytopenia, Normochromic anemia |
OMIM:254900 |
| Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2717 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Ascites, Increased nuchal translucency, Acute lymphoblastic leukemia, Microphthalmia, Polyhydramn... |
ORPHA:1052 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Hydrocephalus, Microphthalmia, Buphthalmos, Meningoencephalocele, Optic ... |
OMIM:236670 |
| Otodental Syndrome |
|
Lens coloboma, Microphthalmia |
ORPHA:2791 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia |
ORPHA:404440 |
| Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
| Dermatomyositis |
|
Abnormal eosinophil morphology, Elevated circulating hepatic transaminase concentration, Increase... |
ORPHA:221 |
| Alkaptonuria |
|
Aminoaciduria, Aortic valve stenosis, Aortic valve calcification, Elevated urinary homogentisic a... |
ORPHA:56 |
| Methanol Poisoning |
|
Hyperlipidemia |
ORPHA:31825 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Weight loss, Lymphadenopathy |
ORPHA:411703 |
| Fanconi Anemia, Complementation Group L |
|
Anemia, Hydrocephalus, Microphthalmia |
OMIM:614083 |
| Riddle Syndrome |
|
Enuresis nocturna, Generalized lymphadenopathy, Weight loss, Elevated circulating alpha-fetoprote... |
ORPHA:420741 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
| Microphthalmia With Limb Anomalies |
|
Anophthalmia, Microphthalmia |
OMIM:206920 |
| Thymic Carcinoma |
|
Neoplasm of the thymus, Weight loss, Mediastinal lymphadenopathy |
ORPHA:99868 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Long penis, Hypernatriuria, Failure to thrive, Decreased testicular size, Hyponatremia, Weight lo... |
ORPHA:90794 |
| Prolactinoma |
|
Pallor |
ORPHA:2965 |
| Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
| Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Increased subcutaneous truncal adipose tissue, Failure to thrive, Camptodactyly of fi... |
ORPHA:3455 |
| Galloway-Mowat Syndrome 3 |
|
Oligohydramnios, Edema, Microphthalmia |
OMIM:617729 |
| Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
| Tsh-Secreting Pituitary Adenoma |
|
Hypokalemia, Pallor |
ORPHA:91347 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:617914 |
| Holoprosencephaly |
|
Spinal dysraphism, Abnormality of the spleen, Branchial anomaly, Encephalocele, Anophthalmia, Hyd... |
ORPHA:2162 |
| 17Q12 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentration, Ureterocel... |
ORPHA:261265 |
| Pierson Syndrome |
|
Hypoplasia of the iris, Oligohydramnios, Rieger anomaly, Hypoplasia of the ciliary body, Macular ... |
OMIM:609049 |
| Garg-Mishra Progeroid Syndrome |
|
Microphthalmia |
OMIM:620601 |
| Warburg Micro Syndrome 4 |
|
Microphthalmia |
OMIM:615663 |
| Goodpasture Syndrome |
|
Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Proteinuria, Weight loss, Glomerulonep... |
OMIM:233450 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Anemia, Hepatosplenomegaly, Weight loss, Lymphadenopathy |
ORPHA:85408 |
| Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Polysplenia |
OMIM:614294 |
| Griscelli Syndrome Type 2 |
|
Hyperlipidemia |
ORPHA:79477 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Annular pancreas, Anteriorly placed anus, Cryptorchidism, High palate, Small for gestational age |
OMIM:268400 |
| Curry-Jones Syndrome |
|
Microphthalmia |
ORPHA:1553 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Bilateral microphthalmos, Microphthalmia |
ORPHA:2399 |
| Alternating Hemiplegia Of Childhood |
|
Pallor |
ORPHA:2131 |
| Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
| 3P25.3 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:435638 |
| Marden-Walker Syndrome |
|
Microphthalmia |
OMIM:248700 |
| Cousin Syndrome |
|
Hydranencephaly, Hydrocephalus, Microphthalmia |
OMIM:260660 |
| Warburg Micro Syndrome 3 |
|
Microphthalmia |
OMIM:614222 |
| Renal Nutcracker Syndrome |
|
Renal artery stenosis, Hematuria, Proteinuria, Weight loss, Anemia, Microscopic hematuria |
ORPHA:71273 |
| Oculoauricular Syndrome |
|
Macular hypoplasia, Phthisis bulbi, Microphakia, Microphthalmia, Spina bifida occulta |
OMIM:612109 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Enlarged lacrimal glands, Xerostomia, Abnormality of the submandibular glands, Enlargement of par... |
ORPHA:79078 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia |
OMIM:617306 |
| Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
| Wiedemann-Rautenstrauch Syndrome |
|
Failure to thrive, Absence of subcutaneous fat, Reduced subcutaneous adipose tissue, Hypertriglyc... |
OMIM:264090 |
| Microphthalmia/Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
| Lesch-Nyhan Syndrome |
|
Megaloblastic anemia, Hyperuricemia |
OMIM:300322 |
| Microphthalmia/Coloboma 12 |
|
Optic nerve aplasia, Microphthalmia |
OMIM:120200 |
| Mosaic Trisomy 1 |
|
Polyhydramnios, Increased nuchal translucency, Microphthalmia |
ORPHA:1692 |
| Fetal Alcohol Syndrome |
|
Microphthalmia |
ORPHA:1915 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Chylothorax, Lymphedema, Pleural effusion, Anophthalmia, Microphthalmia, Leukemia, Edema |
ORPHA:2526 |
| Steinfeld Syndrome |
|
Holoprosencephaly, Microphthalmia |
OMIM:184705 |
| Atelis Syndrome 2 |
|
Anemia, Thrombocytopenia, Microphthalmia |
OMIM:620185 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia |
OMIM:620098 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Stillbirth, Encephalocele, Microphthalmia |
OMIM:616300 |
| Revesz Syndrome |
|
Macrocytic anemia, Bone marrow hypocellularity, Aplastic anemia, Neutropenia |
OMIM:268130 |
| Kearns-Sayre Syndrome |
|
Sideroblastic anemia |
OMIM:530000 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Ankyloglossia, Annular pancreas, Cleft palate |
ORPHA:488642 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Elevated gamma-glutamyltransferase level, Exocrine pancreatic insufficiency, Absent gallbladder, ... |
OMIM:618500 |
| Basal Cell Nevus Syndrome 1 |
|
Hydrocephalus, Spina bifida, Microphthalmia |
OMIM:109400 |
| Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Premature skin wrinkling, Acanthocytosis, Poikilocytosis |
OMIM:618947 |
| Papillorenal Syndrome |
|
Edema, Microphthalmia |
OMIM:120330 |
| 1Q21.1 Microdeletion Syndrome |
|
Hydrocephalus, Microphthalmia |
ORPHA:250989 |
| Neu-Laxova Syndrome 1 |
|
Generalized edema, Hydranencephaly, Stillbirth, Small placenta, Short umbilical cord, Neonatal de... |
OMIM:256520 |
| Focal Dermal Hypoplasia |
|
Microphthalmia, Hypoplasia of the iris, Spina bifida, Umbilical hernia |
ORPHA:2092 |
| Kapur-Toriello Syndrome |
|
Microphthalmia |
ORPHA:2328 |
| Norrie Disease |
|
Hypoplasia of the iris, Buphthalmos, Microphthalmia |
OMIM:310600 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia |
OMIM:241410 |
| Oculofaciocardiodental Syndrome |
|
Microphthalmia |
ORPHA:2712 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
OMIM:616449 |
| Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
| Duane-Radial Ray Syndrome |
|
Spina bifida occulta, Optic disc hypoplasia, Microphthalmia |
OMIM:607323 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia |
OMIM:234050 |
| Fanconi Anemia, Complementation Group N |
|
Acute myeloid leukemia, Aplastic anemia, Microphthalmia |
OMIM:610832 |
| Alagille Syndrome 1 |
|
Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia |
OMIM:118450 |
| Mucolipidosis Type Ii |
|
Cardiomyopathy, Hepatosplenomegaly, Splenomegaly, Abnormal aortic valve morphology, Abnormal mitr... |
ORPHA:576 |
| Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:248450 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia |
OMIM:618571 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Hypoglycinemia, Megaloblastic anemia, Hyposerinemia |
ORPHA:79351 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Stillbirth, Microphthalmia, Polyhydramnios, Anencephaly, Severe hydrocephalus |
OMIM:236680 |
| Incontinentia Pigmenti |
|
Microphthalmia, Spina bifida occulta, Eosinophilia, Umbilical hernia |
ORPHA:464 |
| Monosomy 9Q22.3 |
|
Microphthalmia, Hydrocephalus, Umbilical hernia |
ORPHA:77301 |
| Martsolf Syndrome 1 |
|
Microphthalmia |
OMIM:212720 |
| 3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia |
ORPHA:251038 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
| Malt Lymphoma |
|
Anemia, Weight loss, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:52417 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia |
ORPHA:35173 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss, Dysphagia |
ORPHA:216866 |
| Micro Syndrome |
|
Microphthalmia |
ORPHA:2510 |
| Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia |
OMIM:619135 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos |
OMIM:610758 |
| Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Oligohydramnios, Microphthalmia |
OMIM:251300 |
| Meckel Syndrome, Type 1 |
|
Accessory spleen, Occipital encephalocele, Oligohydramnios, Large placenta, Splenomegaly, Hydroce... |
OMIM:249000 |
| Fryns Syndrome |
|
Polyhydramnios, Microphthalmia |
ORPHA:2059 |
| Esophageal Atresia |
|
Pallor |
ORPHA:1199 |
| Behçet Disease |
|
Gastrointestinal hemorrhage, Renal insufficiency, Splenomegaly, Orchitis, Weight loss, Pancreatit... |
ORPHA:117 |
| Hallermann-Streiff Syndrome |
|
Spina bifida, Microphthalmia |
OMIM:234100 |
| Pallister-Hall Syndrome |
|
Neonatal death, Holoprosencephaly, Microphthalmia |
OMIM:146510 |
| Schimke Immuno-Osseous Dysplasia |
|
Hyperlipidemia, Small for gestational age, Failure to thrive |
ORPHA:1830 |
| Persistent Hyperplastic Primary Vitreous |
|
Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia |
ORPHA:91495 |
| Holoprosencephaly 9 |
|
Alobar holoprosencephaly, Anophthalmia, Hydrocephalus, Microphthalmia, Holoprosencephaly, Occipit... |
OMIM:610829 |
| Cohen Syndrome |
|
Neutropenia, Microphthalmia |
ORPHA:193 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia |
ORPHA:1352 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Lymphopenia, Thrombocytopenia, Microphthalmia, Anemia |
OMIM:620005 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia |
ORPHA:2728 |
| Warburg Micro Syndrome 2 |
|
Microphthalmia |
OMIM:614225 |
| Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Hyperlipidemia... |
ORPHA:157 |
| Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Microphthalmia |
OMIM:601812 |
| Pyomyositis |
|
Testicular teratoma, Weight loss, Leukocytosis, Renal insufficiency |
ORPHA:764 |
| Bardet-Biedl Syndrome |
|
Decreased HDL cholesterol concentration, Obesity, Joint hypermobility, Childhood-onset truncal ob... |
ORPHA:110 |
| Fraser Syndrome 2 |
|
Hypoplasia of the thymus, Oligohydramnios, Microphthalmia |
OMIM:617666 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia |
OMIM:257850 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Oligohydramnios, Microphthalmia |
ORPHA:364577 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Elevated circulating palmitoleylcarnitine concentration, Hyperammonemia, Hypomethioninemia, Megal... |
ORPHA:79282 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
| Chronic Graft Versus Host Disease |
|
Elevated circulating hepatic transaminase concentration, Xerostomia, Gastroesophageal reflux, Uri... |
ORPHA:99921 |
| Nephronophthisis-Like Nephropathy 1 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Chronic pancreatitis, Renal corticomedullary cy... |
OMIM:613159 |
| Kapur-Toriello Syndrome |
|
Microphthalmia |
OMIM:244300 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Phthisis bulbi, Buphthalmos, Microphthalmia |
OMIM:221900 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia |
OMIM:156610 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Decreased plasma free carnitine, Hyperlipidemia... |
ORPHA:228308 |
| Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia |
OMIM:601675 |
| 22Q11.2 Deletion Syndrome |
|
Umbilical hernia, Microphthalmia, Splenomegaly, Hypoplasia of the thymus, Spina bifida, Thrombocy... |
ORPHA:567 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor, Elevated circulating creatine kinase concentration |
OMIM:253280 |
| Fatal Familial Insomnia |
|
Weight loss, Dysphagia, Urinary retention |
OMIM:600072 |
| Microphthalmia, Lenz Type |
|
Microphthalmia |
ORPHA:568 |
| Treacher-Collins Syndrome |
|
Hypoplasia of the thymus, Branchial fistula, Encephalocele, Microphthalmia |
ORPHA:861 |
| Systemic Lupus Erythematosus |
|
Leukopenia, Hematuria, Proteinuria, Weight loss, Lupus nephritis, Lymphadenopathy, Thrombocytopen... |
ORPHA:536 |
| Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Cardiomyopathy, Renal insufficiency, Weight loss, Neutropenia |
ORPHA:79430 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
| 8Q21.11 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:284160 |
| Dubowitz Syndrome |
|
Hypoplasia of the iris, Acute lymphoblastic leukemia, Aplastic anemia, Microphthalmia |
OMIM:223370 |
| Trichothiodystrophy |
|
Increased mean corpuscular hemoglobin concentration, Bilateral microphthalmos, Umbilical hernia, ... |
ORPHA:33364 |
| Monosomy 13Q14 |
|
Holoprosencephaly, Microphthalmia |
ORPHA:1587 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Umbilical hernia, Joint swelling, Thrombocytopenia, Microphthalmia, Anemia, Buphthalmos, Dehydration |
ORPHA:534 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Holoprosencephaly, Microphthalmia |
ORPHA:3186 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia |
OMIM:618727 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hydrocephalus, Microphthalmia |
OMIM:309801 |
| 3Q29 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:65286 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
ORPHA:464738 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Optic nerve hypoplasia, Spina bifida, Microphthalmia |
ORPHA:508498 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia |
OMIM:614230 |
| Aapoaiv Amyloidosis |
|
Elevated circulating creatinine concentration, Hyperlipidemia |
ORPHA:439232 |
| Norrie Disease |
|
Cachexia, Cryptorchidism, Failure to thrive |
ORPHA:649 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:615877 |
| Oromandibular Dystonia |
|
Weight loss, Dysphagia |
ORPHA:93958 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia |
OMIM:610651 |
| Cockayne Syndrome B |
|
Normal pressure hydrocephalus, Hypoplasia of the iris, Splenomegaly, Microphthalmia |
OMIM:133540 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:206900 |
| Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Abnormal lymph node morphology,... |
ORPHA:99889 |
| Holoprosencephaly 1 |
|
Alobar holoprosencephaly, Ethmocephaly, Microphthalmia |
OMIM:236100 |
| Tetraamelia Syndrome 1 |
|
Asplenia, Hydrocephalus, Microphthalmia |
OMIM:273395 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
| Mend Syndrome |
|
Hydrocephalus, Microphthalmia |
ORPHA:401973 |
| Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ... |
ORPHA:97286 |
| Ohdo Syndrome, X-Linked |
|
Microphthalmia |
OMIM:300895 |
| Cat Eye Syndrome |
|
Microphthalmia, Umbilical hernia |
OMIM:115470 |
| Liposarcoma |
|
Weight loss |
ORPHA:69078 |
| Chromosome 13Q14 Deletion Syndrome |
|
Microphthalmia, Holoprosencephaly, Umbilical hernia |
OMIM:613884 |
| 2Q31.1 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:251014 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Weight loss, Thyroid hyperplasia, Goiter |
ORPHA:424 |
| Microphthalmia With Limb Anomalies |
|
True anophthalmia, Hydrocephalus, Microphthalmia |
ORPHA:1106 |
| Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
| Aicardi Syndrome |
|
Spina bifida, Microphthalmia |
OMIM:304050 |
| Perry Syndrome |
|
Weight loss |
OMIM:168605 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia |
OMIM:300952 |
| Phace Association |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:606519 |
| Acrodermatitis Enteropathica |
|
Furrowed tongue, Glossitis, Weight loss, Failure to thrive |
ORPHA:37 |
| Yunis-Varon Syndrome |
|
Bilateral microphthalmos, Increased nuchal translucency, Hydrocephalus, Microphthalmia, Polyhydra... |
ORPHA:3472 |
| Short Syndrome |
|
Weight loss |
ORPHA:3163 |
| Roberts Syndrome |
|
Polyhydramnios, Thrombocytopenia, Microphthalmia |
ORPHA:3103 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia |
ORPHA:85167 |
| Charge Syndrome |
|
Umbilical hernia, Anophthalmia, Microphthalmia, Polyhydramnios, Aqueductal stenosis, Holoprosence... |
ORPHA:138 |
| Momo Syndrome |
|
Bilateral microphthalmos |
ORPHA:2563 |
| Fontaine Progeroid Syndrome |
|
Umbilical hernia, Oligohydramnios, Neonatal death, Hydrocephalus, Microphthalmia |
OMIM:612289 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Aprosencephaly |
OMIM:601374 |
| Nocardiosis |
|
Lymphadenitis, Liver abscess, Abnormal heart valve morphology, Peritonitis, Weight loss, Endocard... |
ORPHA:31204 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2250 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia |
ORPHA:1236 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Microphthalmia |
OMIM:608940 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Polyhydramnios, Aplasia of the thymus, Branchial cyst, Microphthalmia |
OMIM:620186 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Abnormality of the spleen, Anophthalmia, Microphthalmia |
ORPHA:2538 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Microphthalmia |
ORPHA:306542 |
| Teebi-Shaltout Syndrome |
|
Microphthalmia |
OMIM:272950 |
| Proboscis Lateralis |
|
Holoprosencephaly, Anophthalmia, Optic nerve hypoplasia, Microphthalmia |
ORPHA:141099 |
| Granulomatosis With Polyangiitis |
|
Weight loss, Granulomatosis |
OMIM:608710 |
| Glossopharyngeal Neuralgia |
|
Weight loss, Odynophagia, Oral-pharyngeal dysphagia |
ORPHA:221098 |
| Fabry Disease |
|
Hyperlipidemia, Abnormal circulating lipid concentration, Reduced bone mineral density, Arthritis |
ORPHA:324 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Hydrocephalus, Anophthalmia, Microphthalmia |
ORPHA:2556 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Unilateral microphthalmos |
OMIM:618874 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Lobar holoprosencephaly, Bilateral microphthalmos, Optic nerve hypoplasia |
ORPHA:468631 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Neonatal death, Microphthalmia |
OMIM:617925 |
| Focal Dermal Hypoplasia |
|
Umbilical hernia, Myelomeningocele, Aniridia, Anophthalmia, Hydrocephalus, Microphthalmia, Spina ... |
OMIM:305600 |
| Familial Gestational Hyperthyroidism |
|
Weight loss, Thyroid hyperplasia, Goiter |
ORPHA:99819 |
| African Trypanosomiasis |
|
Urinary incontinence, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Weight loss, Lymphad... |
ORPHA:3385 |
| Glycogen Storage Disease Ic |
|
Hyperlipidemia, Xanthelasma, Gout, Hyperuricemia |
OMIM:232240 |
| Acquired Central Diabetes Insipidus |
|
Weight loss, Pollakisuria |
ORPHA:95626 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Hemolytic anemia, Hydrocephalus, Microphthalmia |
OMIM:175780 |
| Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia |
ORPHA:2714 |
| Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Microphthalmia |
ORPHA:959 |
| Holoprosencephaly 2 |
|
Holoprosencephaly, Alobar holoprosencephaly, Microphthalmia, Semilobar holoprosencephaly |
OMIM:157170 |
| Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
| Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia |
OMIM:201180 |
| Oculodentodigital Dysplasia |
|
Microphthalmia |
OMIM:164200 |
| Linear Nevus Sebaceus Syndrome |
|
Microphthalmia |
ORPHA:2612 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Oligohydramnios, Microphthalmia |
OMIM:608670 |
| Cockayne Syndrome Type 3 |
|
Splenomegaly, Microphthalmia |
ORPHA:90324 |
| Hallermann-Streiff Syndrome |
|
Microphthalmia |
ORPHA:2108 |
| Myhre Syndrome |
|
Pericardial effusion, Microphthalmia |
OMIM:139210 |
| Adams-Oliver Syndrome 1 |
|
Encephalocele, Microphthalmia |
OMIM:100300 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Anemia, Bilateral microphthalmos |
ORPHA:93325 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypoalbuminemia, Hyperlipidemia |
ORPHA:567546 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Pallor, Patent ductus arteriosus |
ORPHA:99125 |
| Hereditary Late-Onset Parkinson Disease |
|
Weight loss, Dysphagia, Spastic/hyperactive bladder |
ORPHA:411602 |
| Bartsocas-Papas Syndrome 1 |
|
Microphthalmia |
OMIM:263650 |
| Fraser Syndrome 1 |
|
Bilateral microphthalmos, Myelomeningocele, Encephalocele, Anophthalmia, Hydrocephalus |
OMIM:219000 |
| Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
| Fraser Syndrome |
|
Umbilical hernia, Myelomeningocele, Encephalocele, Anophthalmia, Microphthalmia |
ORPHA:2052 |
| Charge Syndrome |
|
Umbilical hernia, Lymphopenia, Unilateral microphthalmos, Anophthalmia, Microphthalmia, Polyhydra... |
OMIM:214800 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Cor pulmonale, Failure to thrive, Abnormal heart morphology, Weight loss, High palate, Dysphagia |
ORPHA:2020 |
| Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
| Aicardi Syndrome |
|
Microphthalmia |
ORPHA:50 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Microphthalmia |
OMIM:609945 |
| Traboulsi Syndrome |
|
Microphthalmia |
OMIM:601552 |
| Woodhouse-Sakati Syndrome |
|
Osteopenia, Hyperlipidemia |
ORPHA:3464 |
| Microphthalmia, Syndromic 2 |
|
Microphthalmia, Phthisis bulbi, Anophthalmia, Umbilical hernia |
OMIM:300166 |
| Phace Syndrome |
|
Lens coloboma, Optic nerve hypoplasia, Microphthalmia |
ORPHA:42775 |
| Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
| Monosomy 9P |
|
Microphthalmia |
ORPHA:261112 |
| Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Stillbirth, Hydrocephalus, Frontal encephalocele, Microphthalmia, Polyhydramnios |
OMIM:268300 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Phthisis bulbi, Microphthalmia |
OMIM:259770 |
| Reactive Arthritis |
|
Inflammation of the large intestine, Weight loss, Pericarditis |
ORPHA:29207 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia |
OMIM:616734 |
| Pallister-Hall Syndrome |
|
Holoprosencephaly, Oligohydramnios, Microphthalmia, Umbilical hernia |
ORPHA:672 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia |
OMIM:603457 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Bilateral microphthalmos, Oligohydramnios, Spina bifida occulta, Optic nerve hypo... |
ORPHA:508488 |
| Witteveen-Kolk Syndrome |
|
Polyhydramnios, Branchial fistula, Microphthalmia |
OMIM:613406 |
| Hutchinson-Gilford Progeria Syndrome |
|
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Ankyloglossia, Mitral... |
ORPHA:740 |
| Neuroocular Syndrome 1 |
|
Hypoplasia of the fovea, Lens coloboma, Microphthalmia, Umbilical hernia |
OMIM:619539 |
| Semilobar Holoprosencephaly |
|
Hydrocephalus, Neural tube defect |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Hydrocephalus, Neural tube defect |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Hydrocephalus, Neural tube defect |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Hydrocephalus, Neural tube defect |
ORPHA:93924 |
| Alström Syndrome |
|
Obesity, Dorsocervical fat pad, Hyperlipidemia, Truncal obesity, Hypertriglyceridemia, Hyperostos... |
ORPHA:64 |
| Renpenning Syndrome 1 |
|
Microphthalmia |
OMIM:309500 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hyperlipidemia, Elevated circulating creatine kinase concentration |
ORPHA:565612 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Microphthalmia |
OMIM:612474 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Obesity, Hyperlipidemia |
ORPHA:293987 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Branchial anomaly, Anophthalmia, Hydrocephalus, Microphthalmia |
OMIM:164210 |
| Branchiooculofacial Syndrome |
|
Branchial anomaly, Anophthalmia, Microphthalmia |
OMIM:113620 |
| Lowe Oculocerebrorenal Syndrome |
|
Microphthalmia |
OMIM:309000 |
| Microphthalmia, Syndromic 6 |
|
Anophthalmia, Microphthalmia |
OMIM:607932 |
| Woodhouse-Sakati Syndrome |
|
Hyperlipidemia |
OMIM:241080 |
| Treacher Collins Syndrome 1 |
|
Bilateral microphthalmos |
OMIM:154500 |
| Mowat-Wilson Syndrome |
|
Microphthalmia |
OMIM:235730 |
| Townes-Brocks Syndrome |
|
Microphthalmia |
ORPHA:857 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Asplenia, Microphthalmia |
ORPHA:261537 |
| Mowat-Wilson Syndrome |
|
Asplenia, Microphthalmia |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Asplenia, Microphthalmia |
ORPHA:261552 |
| Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:391665 |
| Microphthalmia, Syndromic 1 |
|
Anophthalmia, Microphthalmia |
OMIM:309800 |
