| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
| Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... |
OMIM:620121 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
| Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin conce... |
OMIM:615234 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom... |
OMIM:616860 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... |
ORPHA:254704 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia |
ORPHA:46532 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Hemoglobin H Disease |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Anisopoikilocytosis,... |
ORPHA:300298 |
| X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Splenomegaly, Anemia, Elevated hepatic transaminase |
ORPHA:75563 |
| Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... |
ORPHA:53693 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... |
OMIM:300751 |
| Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Incre... |
OMIM:613313 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
| Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron, Cho... |
OMIM:603358 |
| Dietary Iron Overload Disease |
|
Hepatic steatosis, Hepatomegaly, Viral hepatitis, Increased circulating ferritin concentration, E... |
ORPHA:139507 |
| Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia... |
ORPHA:231222 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
| Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
| Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... |
ORPHA:79230 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
| Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Abn... |
ORPHA:101330 |
| Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Prolonged neo... |
OMIM:231100 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
| Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Increa... |
OMIM:261000 |
| Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased serum iron, Congenital hepatic fibrosis, ... |
ORPHA:446 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased m... |
ORPHA:98870 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Increased circulating lactate dehydrogenase... |
ORPHA:3202 |
| Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... |
OMIM:604250 |
| Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Abnormalit... |
ORPHA:848 |
| Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
| Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... |
OMIM:613280 |
| Aceruloplasminemia |
|
Refractory anemia, Abnormal circulating enzyme concentration or activity, Decreased circulating c... |
ORPHA:48818 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia |
OMIM:619398 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Card... |
OMIM:606069 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Increased circulating lactate dehydrogenas... |
ORPHA:232 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... |
OMIM:224120 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
| Protoporphyria, Erythropoietic, 2 |
|
Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration |
OMIM:618015 |
| Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
| Idiopathic Copper-Associated Cirrhosis |
|
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... |
ORPHA:209919 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Copper accumulation in liver, Anemia, Aminoaciduria, Elevated hepatic iron concentration, Increas... |
OMIM:614946 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
| Atransferrinemia |
|
Abnormality of the liver, Hypochromic anemia, Atransferrinemia |
OMIM:209300 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Dilated cardiomyopathy,... |
OMIM:602390 |
| Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... |
OMIM:237800 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Cyanosis, Transient Neonatal |
|
Hepatomegaly, Reticulocytosis, Jaundice, Methemoglobinemia, Anemia |
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 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,... |
OMIM:608898 |
| Glutathione Peroxidase Deficiency |
|
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia |
OMIM:614164 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
| Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... |
ORPHA:71275 |
| Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Overriding aorta, ... |
OMIM:617021 |
| X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia |
ORPHA:2802 |
| Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia |
OMIM:606664 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport... |
OMIM:212050 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Osteoporosis, Gout |
OMIM:610947 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... |
OMIM:616959 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, With Or Without Cerebellar Ataxia |
|
Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Elevate... |
OMIM:310490 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
| Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:232700 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina... |
OMIM:266200 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
| Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Decreased circulating ferritin concentration, Pallor, Hypochromic microcy... |
ORPHA:54028 |
| Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Pyoderma ... |
OMIM:604416 |
| Diamond-Blackfan Anemia 13 |
|
Normocytic anemia |
OMIM:615909 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Cholelithiasis, Iron deficiency anemia, Increased erythrocyte prot... |
OMIM:300752 |
| Autosomal Erythropoietic Protoporphyria |
|
Microcytic anemia, Abnormal circulating porphyrin concentration, Erythema, Decreased liver functi... |
ORPHA:79278 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Aceruloplasminemia |
|
Decreased serum iron, Aceruloplasminemia, Increased circulating ferritin concentration, Anemia |
OMIM:604290 |
| Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
| Reticuloendotheliosis, X-Linked |
|
Jaundice, Anemia, Hepatosplenomegaly |
OMIM:312500 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cholangiocarcinoma, Hepatomegaly, Portal hypertension, Cardiomegaly, Splenomegaly, Elevated trans... |
ORPHA:465508 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Nephrocalcinosis, Decreased m... |
OMIM:611590 |
| Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia |
OMIM:153550 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
| Elliptocytosis 1 |
|
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor |
OMIM:611804 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
| Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... |
ORPHA:507 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
| Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Increased circulating fe... |
OMIM:235200 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... |
OMIM:194380 |
| Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Hyperhomocystinemi... |
ORPHA:2169 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Small for gestational age, Decreased serum iron, Chronic hepatitis... |
OMIM:614602 |
| Mednik Syndrome |
|
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... |
ORPHA:171851 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Hyperlysinemia, Type I |
|
Hyperlysinemia, Anemia |
OMIM:238700 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic... |
ORPHA:42 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:619175 |
| Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Hypoalbuminemia, Hepatic fibrosis, Bifid uvula, Hepatomegaly, Hypospadias, Incre... |
OMIM:222470 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Peptic ulcer, Overweight, Splenomegaly, Increased mean corpuscular hemoglob... |
ORPHA:90041 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the gastrointestinal tract, Elevated hepatic transaminase, Small intestinal dysmot... |
ORPHA:298 |
| Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Lipodystrophy |
OMIM:246650 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Congenital Atransferrinemia |
|
Abnormality of the pancreas, Anemia |
ORPHA:1195 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Hypokalemia, Protein-... |
OMIM:175500 |
| Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Holoprosencephaly, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
| Refractory Celiac Disease |
|
Elevated hepatic transaminase, Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagne... |
ORPHA:398063 |
| Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia |
ORPHA:517 |
| Congenital Disorder Of Glycosylation, Type Iiq |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... |
OMIM:617395 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Sideroblastic anemia, Hypochromic microcytic anemia |
OMIM:301310 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Childhood-onset truncal obesity, Obesity, Increased adipose tissue |
ORPHA:71529 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Protein-losing e... |
OMIM:619991 |
| Cog2-Cdg |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Sm... |
ORPHA:435934 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Increased subc... |
OMIM:608600 |
| Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
| Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
| 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 |
| Irida Syndrome |
|
Intrahepatic cholestasis, Decreased circulating copper concentration, Pallor |
ORPHA:209981 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
| Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice |
OMIM:179700 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Microcytic anemia, Elevated circulating alanine aminotransferase concentration, Hyp... |
OMIM:618805 |
| Nephronophthisis |
|
Anemia |
ORPHA:655 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Decreased methionine synthase activity, Megaloblastic ... |
OMIM:277410 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia |
ORPHA:163596 |
| Immunodeficiency 89 And Autoimmunity |
|
Elevated circulating C-reactive protein concentration, Increased circulating IgA level, Increased... |
OMIM:619632 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... |
OMIM:616516 |
| Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... |
ORPHA:811 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Petechiae, Chronic noninfectious lymphadenopathy, Eosi... |
OMIM:603909 |
| Majeed Syndrome |
|
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:609628 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, In... |
OMIM:613839 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
| Copper Deficiency, Familial Benign |
|
Failure to thrive, Decreased circulating copper concentration, Anemia |
OMIM:121270 |
| Malaria |
|
Anemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Thrombocytopenia |
ORPHA:673 |
| Acute Erythroid Leukemia |
|
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia |
ORPHA:318 |
| Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... |
OMIM:618963 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
| Cold Agglutinin Disease |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Pallor |
ORPHA:56425 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase |
OMIM:618400 |
| Syndromic Diarrhea |
|
Villous atrophy, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thym... |
ORPHA:84064 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
| Tempi Syndrome |
|
Increased circulating IgG level, Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Tetralogy of Fallot, Cleft... |
OMIM:612561 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Neutrophilia, Liver abscess, Elevated circulating C-reactive prote... |
ORPHA:54251 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Increased muscle glycogen content, Hyperuricemia, Anemia |
ORPHA:371 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Conjuga... |
OMIM:617093 |
| Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Splenom... |
ORPHA:824 |
| Familial Benign Copper Deficiency |
|
Decreased circulating copper concentration, Anemia |
ORPHA:1551 |
| Idiopathic Achalasia |
|
Weight loss, Decreased prealbumin level, Gastroesophageal reflux, Dysphagia |
ORPHA:930 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
| Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
| Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia, Fava bean-induced hemolytic anemia |
OMIM:618660 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Anemia, Hepatosplenomegaly |
OMIM:273680 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoa... |
OMIM:619013 |
| Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Esophageal varix, Steatorrhea, Hepa... |
ORPHA:75233 |
| Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatosis, Vacuolated lymphocy... |
ORPHA:275761 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio... |
OMIM:613101 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... |
OMIM:615703 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Hepatomegaly, Hypochromic microcytic anemia, Elevated circulating C-reactive protein concentration |
OMIM:619423 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Pallor, Increased total bilirubin |
ORPHA:90037 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, M... |
OMIM:618278 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
| Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
| Majeed Syndrome |
|
Hepatomegaly, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic microcytic a... |
ORPHA:77297 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Anisocytosis |
OMIM:604273 |
| Rhabdoid Tumor |
|
Hypercalcemia, Weight loss, Hematuria, Anemia, Neoplasm of the liver, Lymphadenopathy, Thrombocyt... |
ORPHA:69077 |
| Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Cach... |
ORPHA:83469 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... |
OMIM:615285 |
| Abcd Syndrome |
|
Polycythemia |
OMIM:600501 |
| Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... |
OMIM:242150 |
| Huppke-Brendel Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
OMIM:614482 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
| Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Cachexia, Malabsorption, Splenomegaly, Furrowed tongue, Hamar... |
ORPHA:2930 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h... |
OMIM:235700 |
| Isolated Sedoheptulokinase Deficiency |
|
Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Cholestatic liver dis... |
ORPHA:440713 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Unilateral cryptorchidism, Cleft palate, Persistence of hemoglobin F, Increase... |
OMIM:300946 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Hereditary Spherocytosis |
|
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Spleno... |
ORPHA:822 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal blood ion concentration, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, ... |
ORPHA:37042 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocyto... |
OMIM:259720 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase... |
OMIM:613752 |
| Fanconi Anemia, Complementation Group V |
|
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... |
OMIM:617243 |
| Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Increased urine harderoporphyrin level, Splenome... |
OMIM:618892 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen... |
OMIM:603552 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Generalized lipodystrop... |
OMIM:612526 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Increased circulating ferritin conc... |
OMIM:600462 |
| Zinc Deficiency, Transient Neonatal |
|
Decreased serum zinc |
OMIM:608118 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Esophageal stenosis, Anal fissure, Abnormal circulating selenium concentration... |
ORPHA:89842 |
| Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Abnormal circulating creatine kinase concentration, Abnormal circulating copper concentration |
ORPHA:521411 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Hypocalcemia, Anemia |
ORPHA:100025 |
| Castleman Disease |
|
Abnormality of the gastrointestinal tract, Renal insufficiency, Intestinal obstruction, Generaliz... |
ORPHA:160 |
| Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Hypocalcemia, Cachexia |
ORPHA:1438 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Conjuga... |
OMIM:620010 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... |
ORPHA:86839 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
| Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hypochromic microcytic anemia, N... |
ORPHA:66634 |
| Myelofibrosis |
|
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura |
OMIM:254450 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
| Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Increased circulating lactate dehydrogenase concentration, Ele... |
OMIM:232800 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
| Formiminoglutamic Aciduria |
|
Abnormal circulating histidine concentration, Anemia, Megaloblastic anemia |
ORPHA:51208 |
| Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
| Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia |
ORPHA:2494 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Elevated circulating C-reactive protein concentration, Microcytic anemia, Lymphadenopathy, Hepato... |
OMIM:619750 |
| Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Failure to thrive, Decreased circulating coppe... |
OMIM:300972 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... |
ORPHA:331206 |
| Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
| Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:607616 |
| Whipple Disease |
|
Hyponatremia, Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Cachexia, Malabsorption, S... |
ORPHA:3452 |
| Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Lymphadenopathy, Enlarged mesenteric... |
OMIM:209950 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
OMIM:610717 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pallor |
OMIM:613561 |
| Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia, Adrenocorticotropic hormone exc... |
ORPHA:100083 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Hyperalaninemia, Hypochromic microcytic anemia, Anemia |
OMIM:619147 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Odynophagia, Leukopenia, Hemoglobinuria, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic... |
ORPHA:447 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Overweight, Failure to thrive, Decreased serum iron, Abnormal heart morphology |
ORPHA:391372 |
| Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Pallor |
ORPHA:90064 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Aminoaciduria, Elevated circulating creatine kinase concentration, Methylmalonic aciduria |
ORPHA:1933 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Failure to thrive, Aplastic anemia, Pancreatic steatosis, T... |
OMIM:617052 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... |
OMIM:278000 |
| Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
| Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Fanconi Anemia, Complementation Group G |
|
Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia |
OMIM:614082 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
| Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... |
ORPHA:3226 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Thrombocytopenia |
ORPHA:3240 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Atrial septal defect, Large for gestational age, Microvesicular hepatic steatosis, ... |
OMIM:300868 |
| Niemann-Pick Disease, Type A |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel... |
OMIM:257200 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
| Hydrops Fetalis, Nonimmune |
|
Anemia, Nonimmune hydrops fetalis, Hydrops fetalis |
OMIM:236750 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... |
OMIM:187800 |
| Fumarase Deficiency |
|
Necrotizing enterocolitis, Increased urine succinate level, Decreased fumarate hydratase activity... |
OMIM:606812 |
| Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Gastric varix, ... |
OMIM:613490 |
| Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Spleno... |
OMIM:214900 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
| Diarrhea 13 |
|
Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hypoalbuminemia |
OMIM:620357 |
| Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Increased serum zinc |
OMIM:601979 |
| Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis |
OMIM:612126 |
| Fetal Parvovirus Syndrome |
|
Increased nuchal translucency, Hydrops fetalis, Anemia, Ascites, Thrombocytopenia |
ORPHA:295 |
| Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy, Weight loss |
ORPHA:52416 |
| Evans Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an... |
ORPHA:1959 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Lipoatrophy, Hypertriglyceridemia, Lipodystrophy |
OMIM:613877 |
| Preeclampsia |
|
Elevated hepatic transaminase, Helicobacter pylori infection, Increased body mass index, Proteinu... |
ORPHA:275555 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
| Cog7-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... |
ORPHA:79333 |
| Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Reticulocytosis |
OMIM:130600 |
| Megaloblastic Anemia, Folate-Responsive |
|
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... |
OMIM:601775 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Increa... |
ORPHA:158057 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Hyperammonemia, Anemia |
ORPHA:28 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Large for gestational age |
OMIM:601820 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Proteinuria, Increased intestinal transit time, Micro... |
OMIM:619377 |
| Lesch-Nyhan Syndrome |
|
Hyperuricemia, Anemia |
ORPHA:510 |
| Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbu... |
OMIM:277900 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
| Multicentric Reticulohistiocytosis |
|
Cachexia, Histiocytosis |
ORPHA:139436 |
| Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Hepatocellular c... |
ORPHA:64743 |
| Pulmonary Hemosiderosis |
|
Iron deficiency anemia |
OMIM:178550 |
| Galactosemia I |
|
Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, El... |
OMIM:230400 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Edema |
OMIM:616570 |
| Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, L... |
ORPHA:470 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Decreased serum zinc, Hepatic fib... |
ORPHA:541423 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Renal cyst, Ab... |
ORPHA:79303 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, Ab... |
ORPHA:93941 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Hydrocephalus |
OMIM:614830 |
| Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia |
OMIM:246400 |
| Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalb... |
OMIM:226990 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Villous atrophy, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fancon... |
OMIM:557000 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Cachexia, Malabsorption, Gastrointestinal dysmotility, Weight loss... |
OMIM:613662 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... |
OMIM:613011 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia |
ORPHA:100024 |
| Glutamate-Cysteine Ligase Deficiency |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Hepatosplenomegaly |
ORPHA:33574 |
| Poems Syndrome |
|
Thrombocytosis, Increased circulating antibody level, Polycythemia, Lymphadenopathy |
ORPHA:2905 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Splenomegaly, Low alkaline phosphatase, Decreased serum zinc, Failure to thrive, De... |
OMIM:201100 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Normochromic anemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
| Congenital Toxoplasmosis |
|
Hydrocephalus, Anemia, Microphthalmia, Ascites, Thrombocytopenia |
ORPHA:858 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... |
OMIM:616649 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Septo-optic dysplasia, Frontal encephalocele, Hydrocephalus |
ORPHA:1528 |
| Caroli Disease |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-gluta... |
ORPHA:53035 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
| Dermatitis Herpetiformis |
|
Skin vesicle, Erythema, Microcytic anemia |
ORPHA:1656 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
| Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Eosinophilia, Elevated circulating C-reactive protein ... |
ORPHA:2070 |
| Livedoid Vasculopathy |
|
Pancytopenia, Leukocytosis, Hyperhomocystinemia, Abnormal circulating lipid concentration, Polycy... |
ORPHA:542643 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Pallor |
ORPHA:90033 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Proteinuria, Hyperlipidemia, Port... |
ORPHA:369 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, In... |
ORPHA:210136 |
| Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Pericardial effusion, Elevated circulating... |
ORPHA:79126 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
OMIM:610539 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
| Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Protei... |
OMIM:614034 |
| Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... |
ORPHA:169079 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Elevated hepatic transaminase, Dry skin, Cutis laxa, Microcytic anemia |
OMIM:612379 |
| Juvenile Polyposis Of Infancy |
|
Refractory anemia, Gastrointestinal hemorrhage, Cachexia, High, narrow palate, Rectal prolapse, A... |
ORPHA:79076 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| X-Linked Agammaglobulinemia |
|
Abnormality of the tonsils, Malabsorption, Abnormality of the lymphatic system, Hepatitis, Weight... |
ORPHA:47 |
| Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Pericardi... |
ORPHA:90362 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Ventricular septal defect, Secundum atrial septal defect, Horseshoe kidney, Cl... |
OMIM:612562 |
| Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Renal insufficiency, Acute hepatic failure, Elevated hepatic transami... |
ORPHA:1667 |
| Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Increased body weight... |
ORPHA:890 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, He... |
OMIM:235555 |
| Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Eosinophilia, Abnorm... |
ORPHA:400 |
| Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
| Immunodeficiency 46 |
|
Decreased circulating antibody level, Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume, Bone ma... |
OMIM:127550 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... |
OMIM:182900 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Decreased circulating antibody level, Iron deficiency anemia, Hypoalbuminemia, Thro... |
OMIM:226300 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo... |
OMIM:617780 |
| Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Aminoaciduria |
ORPHA:79238 |
| Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia |
OMIM:618313 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia, Anemia |
OMIM:603278 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... |
OMIM:607765 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Reduced natural killer cell ... |
OMIM:616050 |
| Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Elevated circulating creati... |
OMIM:232400 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Iron deficiency anemia, Pallor, Hepatosplenomegaly |
ORPHA:99931 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
| Barth Syndrome |
|
Cyclic neutropenia, Granulocytopenia, Hypochromic microcytic anemia, Neutropenia |
OMIM:302060 |
| Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera... |
OMIM:300555 |
| Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Renal insufficiency, Proteinuria, Abnormal lactate dehydrogenase level, Hematuri... |
ORPHA:54057 |
| Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... |
ORPHA:90003 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:604367 |
| Diamond-Blackfan Anemia |
|
Pure red cell aplasia, Reticulocytopenia, Leukopenia, High palate, Neutropenia, Atrial septal def... |
ORPHA:124 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Occipital encephalocele, Hydrocephalus |
ORPHA:324416 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Rh-Null, Regulator Type |
|
Hemolytic anemia, Jaundice, Stomatocytosis, Unconjugated hyperbilirubinemia |
OMIM:268150 |
| Glutamate Formiminotransferase Deficiency |
|
Hypersegmentation of neutrophil nuclei, Positive ferric chloride test, Megaloblastic anemia |
OMIM:229100 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Osteoporosis, ... |
OMIM:615381 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Abnormal circulating lipid concentration, Hyperlipoproteinemia, Cachexia, Weight loss |
ORPHA:1979 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Decreased circulating free fatty acid level, Pallor, Diffuse pancreatic islet hyper... |
ORPHA:276556 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia, Anemia |
ORPHA:2668 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... |
OMIM:314050 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia |
OMIM:615924 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Intrahepatic cholestasi... |
OMIM:602347 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Intestinal obstruction, Acute colitis, Liver abscess, Abnormal per... |
ORPHA:67 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Decreased circulating free fatty acid level, Pallor, Diffuse pancreatic islet hyper... |
ORPHA:276575 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Vascular Malformation, Primary Intraosseous |
|
Hypochromic anemia |
OMIM:606893 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:618398 |
| Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor, Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Elevated circu... |
ORPHA:435660 |
| Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia, Anemia |
ORPHA:158014 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive |
OMIM:612075 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... |
ORPHA:699 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Anemia |
ORPHA:1802 |
| 3-Methylglutaconic Aciduria, Type V |
|
Normochromic microcytic anemia, Microvesicular hepatic steatosis, Elevated circulating alanine am... |
OMIM:610198 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Malabsorption, Splenome... |
ORPHA:79301 |
| Transaldolase Deficiency |
|
Hepatosplenomegaly, Anemia, Abnormal circulating glutamine concentration, Cirrhosis, Increased se... |
ORPHA:101028 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia, Obesity |
OMIM:617885 |
| Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glo... |
OMIM:619644 |
| Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... |
ORPHA:514 |
| Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia, Jaundice, Redu... |
OMIM:105600 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Elevated hepatic transaminase, Dilated cardiomyopathy, Elevated circulating creatine kinase conce... |
OMIM:612937 |
| Mcleod Syndrome |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
OMIM:300842 |
| Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Extrahepatic cho... |
ORPHA:97283 |
| Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Recurrent tonsillitis, Hyperkalemia, Weight loss, Inc... |
ORPHA:171876 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased sarcoplasmic glycogen, Increased bo... |
ORPHA:264580 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Ga... |
ORPHA:85450 |
| Biemond Syndrome Type 2 |
|
Microphthalmia, Hydrocephalus |
ORPHA:141333 |
| Immunodeficiency 102 |
|
Decreased circulating IgG level, Hepatomegaly, Partial absence of specific antibody response to H... |
OMIM:301082 |
| Gilbert Syndrome |
|
Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia |
OMIM:143500 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:158061 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:616435 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
| Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Thrombocytopenia, Splenomegaly, Giant platelets, El... |
OMIM:210250 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
| Craniotelencephalic Dysplasia |
|
Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia |
OMIM:218670 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... |
ORPHA:247598 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia |
ORPHA:436182 |
| X-Linked Creatine Transporter Deficiency |
|
Abnormal circulating creatine concentration, Ileus, Aganglionic megacolon, Cachexia |
ORPHA:52503 |
| Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hypercalcemia, Anemia, Hepatomegaly |
ORPHA:2123 |
| Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Overweight, Flexion contracture, Obesity, Trunca... |
OMIM:616222 |
| Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Pallor, Increased total bilirubin |
ORPHA:90036 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Loss of glutea... |
ORPHA:435651 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
| Mitchell-Riley Syndrome |
|
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Biliary atresia, Chol... |
OMIM:615710 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Hypercalcemia, Polyuria, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc... |
OMIM:143880 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, S... |
OMIM:613812 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Central Diabetes Insipidus |
|
Hyponatremia, Failure to thrive, Nocturia, Weight loss |
ORPHA:178029 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Elevated hepatic transaminase, Sp... |
OMIM:603553 |
| Monosomy 22 |
|
Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly |
ORPHA:96123 |
| 16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Cryptorchidism, Dilated cardiomyopathy, Increased mean corpuscular vol... |
ORPHA:261250 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Prolo... |
ORPHA:288 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Elevated hepatic transaminase, Small for gestational age, Hyperammonemi... |
OMIM:615160 |
| Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal circulating porphyrin con... |
ORPHA:79277 |
| Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st... |
OMIM:615438 |
| Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Hypochromic anemia, Microcytic anemia |
OMIM:618451 |
| Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Hyperammonemia, Pallor, Hyperuricemia, Anemia |
OMIM:246450 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Hepatic hemangioma, Polycythemia, Pancreatic cysts |
OMIM:193300 |
| Diencephalic Syndrome |
|
Long penis, Cachexia, Decreased body weight |
ORPHA:1672 |
| Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Hepa... |
ORPHA:263501 |
| Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Adipose tissue loss, Bone cyst, Hypercholesterolemia, Failur... |
ORPHA:528 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Microcytic anemia |
OMIM:618811 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Large for gestational age, Cardiomegaly, Hepatoblastoma, Vesicoureteral ref... |
ORPHA:116 |
| Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Xerostomia, Abnormality of th... |
ORPHA:85443 |
| Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Increased C-peptide level, Hepatomegaly |
ORPHA:276580 |
| Aredyld Syndrome |
|
Splenomegaly, Abnormality of the ureter, Cachexia, Hepatomegaly |
ORPHA:1133 |
| Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine... |
OMIM:255120 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... |
ORPHA:567983 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Lipodystrophy, Increased C-peptide level |
OMIM:615238 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Decreased circulating free fatty acid level, Hepatomegaly, Pallor, Increased C-peptide level |
ORPHA:324575 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Hyperuricemia, Anemia |
OMIM:613092 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Focal Myositis |
|
Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:48918 |
| Bone Marrow Failure Syndrome 4 |
|
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt... |
OMIM:618116 |
| Perlman Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Cryptorchidism, High, narrow palate, Abnormal pancreas morphology |
ORPHA:2849 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity |
OMIM:616871 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
| Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Cachexia, Hypoalbuminemia, Failu... |
OMIM:610965 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration... |
OMIM:251880 |
| Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H... |
OMIM:306000 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pancreatic islet-cell hyperplasia, Pallor |
ORPHA:276608 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... |
OMIM:618620 |
| Renpenning Syndrome |
|
Hypospadias, Cachexia, High, narrow palate, Cleft palate, Decreased testicular size, Anal atresia |
ORPHA:3242 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hemolytic anemia, Renal insufficiency, Hepatomegaly, Proteinuria, ... |
OMIM:619487 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... |
OMIM:612714 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Pallor, T... |
ORPHA:90045 |
| Eisenmenger Syndrome |
|
Hepatomegaly, Renal insufficiency, Ventricular septal defect, Elevated circulating C-reactive pro... |
ORPHA:97214 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... |
OMIM:105650 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Elevated circulating creati... |
ORPHA:228305 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta... |
OMIM:619484 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Elevated ci... |
OMIM:614576 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Atrial septal defect, Small for gestational ... |
OMIM:208085 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Increased intraabdominal fat, Hypertriglyceridemia, Lipodystrophy |
ORPHA:79085 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Anuria, Acute colitis, Intestinal perforation, Pancreatitis, Leuko... |
ORPHA:90038 |
| Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Patent ductus arteriosus, Microcytic anemia |
ORPHA:90308 |
| Spinocerebellar Ataxia 48 |
|
Urinary incontinence, Cachexia, Dysphagia |
OMIM:618093 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla... |
ORPHA:2198 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| American Trypanosomiasis |
|
Splenomegaly, Hepatomegaly, Pallor, Lymphadenopathy |
ORPHA:3386 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, We... |
ORPHA:103910 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation... |
OMIM:208540 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Anemia |
OMIM:618838 |
| Relapsing Fever |
|
Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio... |
ORPHA:91547 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetopr... |
ORPHA:370348 |
| Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hepatocellular car... |
OMIM:232220 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Reduced intraabdominal adipose tissue,... |
ORPHA:363400 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Malabsorption, Hypersplenism, Thr... |
ORPHA:98850 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia |
OMIM:617056 |
| Hereditary Chronic Pancreatitis |
|
Abnormal circulating enzyme concentration or activity, Elevated circulating C-reactive protein co... |
ORPHA:676 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Elevated circulating... |
ORPHA:99901 |
| Tyrosinemia, Type I |
|
Acute hepatic failure, Nephrocalcinosis, Paralytic ileus, Renal Fanconi syndrome, Hypophosphatemi... |
OMIM:276700 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:151660 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Isolated Biliary Atresia |
|
Conjugated hyperbilirubinemia, Fat malabsorption, Elevated gamma-glutamyltransferase level, Hepat... |
ORPHA:30391 |
| Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Increased hepatocellular lip... |
ORPHA:71 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... |
OMIM:605814 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Dilated cardiomyopathy, Esophag... |
ORPHA:367 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
| Elliptocytosis 3 |
|
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... |
OMIM:617948 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Microphthalmia |
OMIM:613885 |
| Cholestasis, Intrahepatic, Of Pregnancy, 1 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ... |
OMIM:147480 |
| Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615895 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
| Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia |
OMIM:223350 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Eleva... |
OMIM:611881 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly |
ORPHA:86893 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... |
OMIM:619313 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Hepatomegaly, Elevated hepatic transaminase, E... |
ORPHA:2394 |
| Blue Rubber Bleb Nevus |
|
Microcytic anemia |
ORPHA:1059 |
| Mcdonough Syndrome |
|
Cryptorchidism, Cachexia |
ORPHA:2471 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
| Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
| B4Galt1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79332 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
| Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Hypertriglyceridemia, Cholelithiasis, Hepatic failure |
OMIM:177000 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Hyperammonemia, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia |
ORPHA:27 |
| Srd5A3-Cdg |
|
Elevated hepatic transaminase, Microcytic anemia |
ORPHA:324737 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating fatty-acid concentration, Pancr... |
ORPHA:263455 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Hyperammonemia, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:289916 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Joint st... |
ORPHA:98855 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Pancreatic islet cell adenoma, Hypercalcemia, Pituitary null cell adenom... |
ORPHA:97289 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Elevated circulating deoxyuridine concentration, Intestinal pseudo-obstructi... |
OMIM:603041 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exocrine panc... |
OMIM:269200 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ... |
ORPHA:65682 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly, Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal c... |
OMIM:620306 |
| Porphyria Variegata |
|
Hyponatremia, Elevated hepatic transaminase, Neurogenic bladder, Abnormal circulating enzyme conc... |
ORPHA:79473 |
| Hemolytic Anemia, Congenital, X-Linked |
|
Hemolytic anemia, Jaundice |
OMIM:301015 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated hepatic transaminase, Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney dise... |
ORPHA:284426 |
| Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine... |
ORPHA:94086 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Methylmalonic acidemia, Elevated circulating creatine kinase concentration, Microcytic anemia |
OMIM:612073 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly |
OMIM:615085 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Pet... |
OMIM:300367 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612926 |
| Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Increased circulating IgM level, Anemia |
ORPHA:37748 |
| Slc39A8-Cdg |
|
Hypomanganesemia, Abnormality of the liver, Abnormal blood zinc concentration, Failure to thrive ... |
ORPHA:468699 |
| Alexander Disease Type I |
|
Failure to thrive, Cachexia, Dysphagia |
ORPHA:363717 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,... |
ORPHA:131 |
| Christianson Syndrome |
|
Gastroesophageal reflux, Cachexia, Dysphagia |
ORPHA:85278 |
| Sepsis In Premature Infants |
|
Hepatomegaly, Petechiae, Elevated circulating C-reactive protein concentration, Splenomegaly, Jau... |
ORPHA:90051 |
| Genetic Recurrent Myoglobinuria |
|
Dark urine, Elevated hepatic transaminase, Renal insufficiency, Recurrent myoglobinuria, Exercise... |
ORPHA:99845 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Weight loss, Goiter |
OMIM:188580 |
| Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
| Congenital Disorder Of Glycosylation, Type Ii |
|
Hepatomegaly, Iron deficiency anemia |
OMIM:607906 |
| Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... |
ORPHA:97282 |
| Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
| Adams-Oliver Syndrome 4 |
|
Microphthalmia, Umbilical hernia |
OMIM:615297 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia |
ORPHA:3204 |
| Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Anemia |
OMIM:614514 |
| Mevalonic Aciduria |
|
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Failure to thrive in infancy, Eleva... |
OMIM:610377 |
| Orthostatic Hypotension 2 |
|
Anemia |
OMIM:618182 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen... |
OMIM:185070 |
| Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Monoclonal immunoglobu... |
ORPHA:33226 |
| Reticular Dysgenesis |
|
Abnormality of neutrophils, Malabsorption, Weight loss, Leukopenia, Failure to thrive, Aplasia/Hy... |
ORPHA:33355 |
| Hartsfield Syndrome |
|
Encephalocele, Microphthalmia, Lobar holoprosencephaly |
ORPHA:2117 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive, HbH hemoglobin, Prolonged ne... |
ORPHA:423479 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circul... |
ORPHA:540 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Hyponatremia, Macrocytic anemia, Hypoparathyroidism, Hypercalcemia, Eosinophil... |
ORPHA:199299 |
| Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopa... |
ORPHA:829 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79240 |
| Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume, Multicystic kidne... |
OMIM:619774 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Decreased circulating 12-HETE, Iron deficiency anemia, Decreased serum thromboxane B2, Impaired p... |
OMIM:618372 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Hyperammonemia, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:79312 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Joint st... |
ORPHA:98863 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Jaundice, Schistocytosis, Elevated circu... |
OMIM:274150 |
| Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Functional abnormalit... |
ORPHA:29073 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Microcytic anemia, Highly eleva... |
OMIM:251900 |
| Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Joint st... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Joint st... |
ORPHA:98853 |
| Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Macrocytic anemia, Celiac disease, Weight loss, Iron deficiency an... |
OMIM:212750 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... |
OMIM:619902 |
| Pfapa Syndrome |
|
Hepatomegaly, Malabsorption, Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:42642 |
| Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif... |
OMIM:613027 |
| Cinca Syndrome |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hepatosplenome... |
OMIM:607115 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Weight loss, Goiter |
OMIM:613239 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia |
OMIM:243320 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Hyperalaninemia |
OMIM:619046 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive... |
ORPHA:247353 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... |
OMIM:300855 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Methylmalonic acidemia, Hypomethioninemia, Normocytic anemia, Megaloblastic anemia, Hyperhomocyst... |
OMIM:236270 |
| Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
| Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
| Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, ... |
ORPHA:69663 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Small for gest... |
OMIM:260400 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... |
ORPHA:100085 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Hyperlipidemia, Obesity |
ORPHA:329249 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:300635 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Hydrocephalus |
OMIM:601794 |
| Riboflavin Transporter Deficiency |
|
Cachexia, Dysphagia |
ORPHA:97229 |
| Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Hepatomegaly, Acute hepatic failure, Dicarboxylic aciduria, Eleva... |
OMIM:613070 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia, Cystoid macular edema |
OMIM:611040 |
| Microphthalmia, Syndromic 12 |
|
Neonatal death, Microphthalmia, Anophthalmia |
OMIM:615524 |
| Xk Aprosencephaly Syndrome |
|
Microphthalmia, Polyhydramnios |
ORPHA:3469 |
| Non-Functioning Paraganglioma |
|
Pallor, Hypercalcemia |
ORPHA:94080 |
| Mirage Syndrome |
|
Hyponatremia, Petechiae, Thrombocytopenia, Patent ductus arteriosus, Hyperkalemia, Leukopenia, Hy... |
OMIM:617053 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Proteinuria, Hypouricemia, Large ... |
OMIM:616026 |
| Glucagonoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the pancreas, Hype... |
ORPHA:97280 |
| Mitochondrial Dna Depletion Syndrome 19 |
|
Microcytic anemia |
OMIM:618972 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Ventricular septa... |
OMIM:613404 |
| Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
| Coach Syndrome 2 |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... |
OMIM:619111 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
ORPHA:280365 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Failure to thrive, Elevated circulating as... |
ORPHA:2088 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia, Anemia |
OMIM:611489 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... |
ORPHA:26793 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Abnormality of the liver, Thrombocytopenia |
OMIM:112200 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Hypertriglyceridemia |
OMIM:620282 |
| Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventric... |
ORPHA:210122 |
| Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Orbital encephalocele, Anophthalmia |
OMIM:164180 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Elevated hemoglobin A1c |
OMIM:616511 |
| Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Hypocalcemia |
OMIM:602361 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibrosis, Neoplas... |
ORPHA:171 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, C... |
ORPHA:2348 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia |
OMIM:616801 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Acatalasemia |
|
Microcytic anemia |
ORPHA:926 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Small for gestational age, Elevated circulating creatine kinase co... |
OMIM:609015 |
| Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Anemia, Hepatomegaly |
OMIM:618107 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... |
ORPHA:892 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Leukocytosis, Jaundic... |
ORPHA:20 |
| Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Malformation of the hepatic ductal plate, Con... |
ORPHA:84081 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Hydrocephalus, Leukemia |
OMIM:602501 |
| Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
| Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch... |
ORPHA:64744 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
| Jervell And Lange-Nielsen Syndrome |
|
Iron deficiency anemia |
ORPHA:90647 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Elevated circulating creatinine concentration, Hyperkalemia, Anemia |
OMIM:620366 |
| Oslam Syndrome |
|
Anemia |
OMIM:165660 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Cirrhosis, Myeloid leukemia, Anemia |
OMIM:614742 |
| Diffuse Alveolar Hemorrhage |
|
Proteinuria, Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, He... |
ORPHA:90060 |
| Senior-Loken Syndrome 4 |
|
Anemia |
OMIM:606996 |
| Glucose-Galactose Malabsorption |
|
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H... |
ORPHA:35710 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperuricemia, Pallor, Hyperalaninemia, Hepatic stea... |
ORPHA:348 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Atrial septal defect, High nonceruloplasmin-bound serum copper, Thrombocytopenia |
ORPHA:457351 |
| Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Abnormal circulating C-peptide co... |
ORPHA:552 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:619151 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Microphthalmia |
OMIM:611134 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... |
OMIM:619463 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Iron deficiency anemia, Hypo... |
OMIM:618885 |
| Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:616307 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Renal insufficiency, Hemolytic anemia, Reticulocytosis, Hyper... |
ORPHA:713 |
| Meckel Syndrome, Type 5 |
|
Microphthalmia, Occipital encephalocele, Anencephaly |
OMIM:611561 |
| Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Weight loss |
ORPHA:2023 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, In... |
ORPHA:158048 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit... |
ORPHA:98907 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentrati... |
OMIM:613327 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
| Bone Marrow Failure Syndrome 5 |
|
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level |
OMIM:618165 |
| Ppoma |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Neoplasm of the pancreas, Hype... |
ORPHA:97278 |
| Tetrasomy 12P |
|
Abnormal soft palate morphology, Cachexia, Anal atresia |
ORPHA:884 |
| Microsporidiosis |
|
Glossitis, Cholangitis, Cachexia, Abnormality of the spleen, Abnormality of the parathyroid gland... |
ORPHA:2552 |
| Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Elevated circulating creatine kinase con... |
ORPHA:732 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Microcytic anemia, T lymphocytopenia, He... |
ORPHA:2959 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... |
OMIM:617049 |
| Xp21 Deletion Syndrome |
|
Joint laxity, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Osteoporo... |
ORPHA:261476 |
| Werner Syndrome |
|
Hypertriglyceridemia, Osteoporosis, Elevated hemoglobin A1c, Reduced bone mineral density |
OMIM:277700 |
| Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia ... |
OMIM:603554 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Cleft palate, Weight loss |
ORPHA:141152 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia, Lipodystrophy, Flexion contracture, Arthritis, Panniculitis, Failure to thrive |
OMIM:617591 |
| Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... |
ORPHA:71212 |
| Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weigh... |
ORPHA:545 |
| Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Elevated hepatic transaminase, Diffuse hepatic stea... |
ORPHA:2137 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Inflammation of the large intestine, Elevated circulating C-reactive protein concentration, Anemi... |
ORPHA:324964 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia |
OMIM:250940 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Hydrocephalus, Optic nerve hypoplasia |
OMIM:615181 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente... |
ORPHA:731 |
| Fanconi Anemia, Complementation Group R |
|
Microphthalmia, Hydrocephalus, Anemia |
OMIM:617244 |
| Fanconi-Bickel Syndrome |
|
Elevated gamma-glutamyltransferase level, Hepatomegaly, Ketonuria, Hypouricemia, Elevated circula... |
OMIM:227810 |
| Pancreatic Agenesis 1 |
|
Failure to thrive, Reduced C-peptide level, Exocrine pancreatic insufficiency, Pancreatic hypopla... |
OMIM:260370 |
| Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Increased blood urea nitrogen, Anemia, Leukopenia, Hyperuricemia, Hyp... |
OMIM:613845 |
| Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Reduced C-peptide level, Weight loss, Neoplasm of the liver, Urin... |
ORPHA:2126 |
| Matthew-Wood Syndrome |
|
Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, Aplasia/Hypoplasia of the ... |
ORPHA:2470 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia |
OMIM:612840 |
| Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Organic aciduria, Thrombocytopenia, Weight loss |
ORPHA:79242 |
| Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:1302 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Gastroesophageal reflux, Cachexia, High palate, Narrow palate |
OMIM:618186 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79095 |
| Acquired Generalized Lipodystrophy |
|
Hypertriglyceridemia, Unicameral bone cyst, Generalized lipodystrophy, Panniculitis, Abnormal cir... |
ORPHA:79086 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
| Neutrophilic Dermatosis, Acute Febrile |
|
Elevated circulating C-reactive protein concentration, Anemia |
OMIM:608068 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased body weight |
OMIM:182290 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Congenital Primary Aphakia |
|
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
| Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Petechiae, Microcytic anemia, Thrombocytopenia,... |
ORPHA:906 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Microphthalmia, Meningocele, Anencephaly |
OMIM:603194 |
| 19Q13.11 Microdeletion Syndrome |
|
Hypospadias, Ventricular septal defect, Cachexia, Supernumerary nipple, Cryptorchidism, Failure t... |
ORPHA:217346 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Microphthalmia, Hydrocephalus |
OMIM:613155 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Eleva... |
OMIM:619573 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Failure to thrive, Neutropenia, High palate, Steatorrhea, Hypere... |
OMIM:617941 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:231095 |
| Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Dysuria, Nephrolithiasis, Stage 5 chronic kidney disease, Nephrocalcin... |
ORPHA:93598 |
| Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Jaundice, Abnormal lymph node morphology, Weight loss,... |
ORPHA:677 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Anemia, Hepatomegaly |
OMIM:620296 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia |
ORPHA:88 |
| Myopathic Ehlers-Danlos Syndrome |
|
Pallor, Mildly elevated creatine kinase |
ORPHA:536516 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,... |
ORPHA:2902 |
| Congenital Varicella Syndrome |
|
Microphthalmia |
ORPHA:291 |
| Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
| Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Elevated circulating creatine kinase concentration, Anemia, Decreased liver function |
OMIM:618835 |
| Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Elevated circulating creatine kinase concentration, Anemia, Decreased liver function |
OMIM:618839 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Weight loss, Atrial septal defect, Hypertrophic cardiomyopathy, Failure to thrive, ... |
ORPHA:1842 |
| Polyarteritis Nodosa |
|
Abnormality of the gastrointestinal tract, Pericarditis, Elevated circulating C-reactive protein ... |
ORPHA:767 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Hyperuricemia, L... |
ORPHA:79083 |
| Grfoma |
|
Neoplasm of the thymus, Zollinger-Ellison syndrome, Pheochromocytoma, Hepatomegaly, Intermittent ... |
ORPHA:97261 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipidemia, Abdominal obes... |
OMIM:615980 |
| Imerslund-Grasbeck Syndrome 2 |
|
Megaloblastic anemia |
OMIM:618882 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Right ventricular dilatation, Abnormal circulating c... |
ORPHA:369840 |
| Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615947 |
| Lissencephaly 8 |
|
Microphthalmia, Occipital encephalocele |
OMIM:617255 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
| Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Leukocytosis, Peritonitis, Recurrent tonsillitis, Bone marrow hypocellula... |
ORPHA:2968 |
| Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Hypospadias, Intestinal ma... |
OMIM:601346 |
| Becker Muscular Dystrophy |
|
Elevated hepatic transaminase, Abnormal urinary color, Myoglobinuria, Elevated circulating creati... |
ORPHA:98895 |
| Hydrolethalus |
|
Anophthalmia, Polyhydramnios, Hydrocephalus, Anencephaly, Microphthalmia |
ORPHA:2189 |
| Igg4-Related Aortitis |
|
Intestinal obstruction, Elevated circulating C-reactive protein concentration, Hypereosinophilia,... |
ORPHA:449400 |
| Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
| Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Spl... |
ORPHA:398124 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Elevated circulating C-reactive protein concentration, Perianal abscess, Weigh... |
OMIM:301074 |
| Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c... |
OMIM:614817 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Mitral valve calcification, Cachexia, Abnormality of the spleen, Splenomegaly, Aort... |
ORPHA:2072 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
| Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
| Adenohypophysitis |
|
Hyponatremia, Normochromic anemia, Pallor |
ORPHA:95512 |
| Intermediate Osteopetrosis |
|
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
| Alveolar Echinococcosis |
|
Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A... |
ORPHA:284 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Gout, Increased LDL chole... |
ORPHA:412 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... |
ORPHA:91500 |
| H Syndrome |
|
Hypertriglyceridemia, Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly, Histiocytosis |
ORPHA:168569 |
| Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Function... |
ORPHA:1333 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix |
OMIM:617068 |
| Wt Limb-Blood Syndrome |
|
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia |
OMIM:194350 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Pyridoxal Phosphate-Responsive Seizures |
|
Pyridoxine-responsive sideroblastic anemia, Abnormal circulating glycine concentration, Abnormal ... |
ORPHA:79096 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, 4-hydroxyphenylacetic aciduria, Conjugated hyper... |
OMIM:617156 |
| Avian Influenza |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... |
ORPHA:454836 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Hypoplastic spleen |
ORPHA:89844 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Hyponatremia, Renal insufficiency, Hypercalcemia, Decreased urinary potassium,... |
ORPHA:95409 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Hiatus hernia, Panc... |
OMIM:610199 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Neutrophilia, Microcytic anemia, Abnormal isohemagglutinin level, Leukocytosis, Ski... |
ORPHA:99843 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria, Cachexia |
ORPHA:2774 |
| Abetalipoproteinemia |
|
Elevated hepatic transaminase, Reticulocytosis, Decreased HDL cholesterol concentration, Hepatome... |
ORPHA:14 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased... |
OMIM:275350 |
| Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Abnormality of the spleen... |
ORPHA:33276 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Small for gestational age, Abnormality of the pancreas, Jaundice, ... |
ORPHA:69665 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... |
OMIM:620138 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Dicarboxylic aciduria, Elev... |
OMIM:212138 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Cachexia |
ORPHA:371364 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Abnormality of the gastrointestinal tract, Elevated hepatic transaminase, Ketonuria, Hyperlipidem... |
ORPHA:2089 |
| Addison Disease |
|
Normocytic anemia, Hyponatremia, Hypoparathyroidism, Primary testicular failure, Hypercalcemia, D... |
ORPHA:85138 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
3-hydroxydicarboxylic aciduria, Elevated circulating dodecanoylcarnitine concentration, Increased... |
OMIM:619355 |
| Kikuchi-Fujimoto Disease |
|
Abnormality of the gastrointestinal tract, Hepatomegaly, Elevated hepatic transaminase, Generaliz... |
ORPHA:50918 |
| Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
| 2Q24 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:1617 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Leukocytosis, Hyperammonemia, Hyperuricemia, Pallor, Thrombocytosis |
ORPHA:134 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal... |
OMIM:301068 |
| Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
| Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating crea... |
OMIM:614921 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Panhypophysitis |
|
Hyponatremia, Normochromic anemia, Pallor |
ORPHA:95513 |
| Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neut... |
OMIM:251110 |
| Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Cardiac diverti... |
ORPHA:440437 |
| Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Acute hepatic failure, Jaundice, Hyperammonemia, Cardiomyopathy |
OMIM:616483 |
| Congenital Rubella Syndrome |
|
Splenomegaly, Aplasia/Hypoplasia of the iris, Anemia, Microphthalmia, Thrombocytopenia |
ORPHA:290 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Cachexia, Abnormality of the ureter, Nephroli... |
ORPHA:800 |
| Hydatidiform Mole |
|
Anemia |
ORPHA:99927 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormality of... |
OMIM:610131 |
| Pleural Mesothelioma |
|
Hepatomegaly, Weight loss, Lymphadenopathy, Dysphagia |
ORPHA:50251 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
| Camurati-Engelmann Disease |
|
Hepatomegaly, Cachexia, Splenomegaly, Leukopenia, Urinary retention, Hypertrophic cardiomyopathy,... |
ORPHA:1328 |
| Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
| Silver-Russell Syndrome |
|
Hypospadias, Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Gastroesophageal re... |
ORPHA:813 |
| Bresek Syndrome |
|
Neonatal death, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia |
ORPHA:85284 |
| Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Patent ductus arteriosus, Hyperhomocystinemia, Normoch... |
OMIM:614857 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Py... |
ORPHA:93111 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Hepatitis, Anemia, Co... |
OMIM:304790 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Polycystic liver disease, Proteinuria, Pancreatic fibrosis, Conjugated hyper... |
OMIM:208500 |
| Felty Syndrome |
|
Hepatomegaly, Pericarditis, Splenomegaly, Weight loss, Anemia, Lymphadenopathy, Bone marrow hypoc... |
ORPHA:47612 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentr... |
ORPHA:94093 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Failure to thrive in infancy, Joint stiffness, Obesity, Hypercholesterolemia |
ORPHA:819 |
| Cofs Syndrome |
|
Microphthalmia |
ORPHA:1466 |
| Pituitary Apoplexy |
|
Hyponatremia, Normochromic anemia, Pallor |
ORPHA:95613 |
| Congenital Heart Block |
|
Patent ductus arteriosus, Pallor |
ORPHA:60041 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, 3-Methylglutaconic aciduria, Bile duct proliferation, Hypoalbumine... |
OMIM:618329 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Sideroblastic anemia, Elevated circulating creatine kinase concentration, Leukopenia, Increased i... |
OMIM:255125 |
| Cholestasis-Lymphedema Syndrome |
|
Multiple lipomas, Hyperlipidemia, Reduced bone mineral density |
ORPHA:1414 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem... |
OMIM:615512 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Fanconi Anemia, Complementation Group I |
|
Pallor, Bone marrow hypocellularity, Neutropenia |
OMIM:609053 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
| Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Intestinal obstruction, Weight loss, Lymphadenopathy, Inflammatio... |
ORPHA:26790 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... |
OMIM:235400 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Leukocytosis, Hepatitis, Cholestasis, Hyperammonemia, Anemia, Leu... |
ORPHA:292 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Pallor, Hypophosphatemia, Anemia |
ORPHA:667 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
| Acquired Von Willebrand Syndrome |
|
Normocytic anemia, Refractory anemia, Hypochromic anemia |
ORPHA:99147 |
| Tay-Sachs Disease |
|
GM2-ganglioside accumulation, Pallor |
OMIM:272800 |
| Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia |
OMIM:610023 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Elevated circu... |
OMIM:619381 |
| Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
| Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Gastrointestinal hemorrhage, Intestinal obstruction, Hyperparat... |
ORPHA:913 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Enlarged ovaries, Proteinuria, Abnormality of body weig... |
ORPHA:2298 |
| Developmental And Epileptic Encephalopathy 50 |
|
Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Anemia |
OMIM:616457 |
| Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Iron deficien... |
ORPHA:100075 |
| Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Atrophic gastritis, Hepatomegaly, Generalized lymphadenopathy, He... |
OMIM:615846 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Steatorrhea, Neutropenia |
OMIM:618752 |
| Hereditary Hemorrhagic Telangiectasia |
|
Portal hypertension, Microcytic anemia, Cholecystitis, Cirrhosis, Cholelithiasis, Hepatic failure |
ORPHA:774 |
| Monosomy 18P |
|
Microphthalmia, Holoprosencephaly, Lymphedema |
ORPHA:1598 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level,... |
ORPHA:276621 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Polyhydramnios |
ORPHA:2547 |
| Adams-Oliver Syndrome 2 |
|
Microphthalmia, Hydrocephalus, Oligohydramnios |
OMIM:614219 |
| Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Cholelithiasis, Exocrine pancreatic insufficiency |
ORPHA:309108 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Renal insufficiency, Elevated hepatic transam... |
ORPHA:537 |
| Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:391 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Cachexia, Cardiomegaly, Left atrial... |
ORPHA:75565 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:619525 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of neutrophils, Hypochromic anemia |
ORPHA:2720 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Leukocytosis, Increased circulating IgE level, Increased circulating IgG level, Defective T cell ... |
OMIM:618213 |
| Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Peric... |
ORPHA:781 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Pancytopenia, Small for gestational age, Intestinal malrotation, P... |
OMIM:613658 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Small for gestational age, Ectopic kidney, Esophageal atresia, Cryptorchidism, Annu... |
OMIM:227646 |
| Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss, High palate, Decreased intestinal transit time |
OMIM:620045 |
| Infantile Krabbe Disease |
|
Abnormal circulating enzyme concentration or activity, Failure to thrive, Gastroesophageal reflux... |
ORPHA:206436 |
| Diamond-Blackfan Anemia 5 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Leukopenia |
OMIM:612528 |
| Frontonasal Dysplasia 1 |
|
Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele |
OMIM:136760 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Renal insufficiency, Glomerulonephritis, Abnormal circulating selenium concen... |
ORPHA:79408 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertrigly... |
OMIM:256040 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity |
ORPHA:209902 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Decreased serum iron, Cry... |
ORPHA:438213 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating acylcarn... |
ORPHA:159 |
| Reynolds Syndrome |
|
Calcinosis, Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Splenomegal... |
OMIM:613471 |
| Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Elevated h... |
OMIM:229600 |
| Cockayne Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria... |
ORPHA:191 |
| Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
| Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Generalized lymphadenopathy, Neutrophilia, Cholangitis, Eosinophil... |
ORPHA:3260 |
| Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Leukopenia, Abnormality of ... |
ORPHA:1304 |
| Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Anal stenosis, Cachexia, Anorectal anomaly, Cleft ... |
ORPHA:647 |
| Parathyroid Carcinoma |
|
Renal insufficiency, Pancreatic adenocarcinoma, Hypercalcemia, Renal hamartoma, Peptic ulcer, Tes... |
ORPHA:143 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Microcytic anemia |
ORPHA:293967 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipos... |
OMIM:248370 |
| Braddock-Carey Syndrome 2 |
|
Microphthalmia, Thrombocytopenia |
OMIM:619981 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Small for gestational age, Reduced C-peptide level, Decreased circulating lip... |
ORPHA:556955 |
| Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Intestinal fistula, Functional intestinal obstruction, Tricuspid s... |
ORPHA:100078 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Renal salt wasting, Cryptorchidism, Hyperkalemia, Testicular adrenal rest tumor, We... |
ORPHA:361 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Truncal obesity, Hyperostosis fron... |
OMIM:203800 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Cachexia, Obesity, High palate, Decreased testicular size |
ORPHA:85293 |
| Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... |
OMIM:219800 |
| Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia, Peric... |
ORPHA:167 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Hepatic cysts, Pancreatic cysts, Chronic kidney di... |
ORPHA:730 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia, Hydrocephalus |
OMIM:613153 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Hyperglutamatemia, Hypoargininemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hyper... |
OMIM:620358 |
| Sheehan Syndrome |
|
Hyponatremia, Normochromic anemia, Dry skin, Pallor |
ORPHA:91355 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Renal insufficiency, Elevated hepatic transam... |
ORPHA:36426 |
| 17Q12 Microduplication Syndrome |
|
Microphthalmia, Polyhydramnios |
ORPHA:261272 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
| Pierpont Syndrome |
|
Microphthalmia |
ORPHA:487825 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentr... |
ORPHA:49041 |
| Huntington Disease |
|
Abnormal circulating cholesterol concentration, Weight loss, Decreased body mass index, Oral-phar... |
ORPHA:399 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Hydrocephalus, Anophthalmia, Holoprosencephaly |
ORPHA:77298 |
| Takayasu Arteritis |
|
Abnormal endocardium morphology, Abnormal heart valve morphology, Weight loss, Gastrointestinal i... |
ORPHA:3287 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Microphthalmia |
OMIM:613730 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Eosinophilia, Myocardi... |
ORPHA:139402 |
| Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia, Anemia |
OMIM:174900 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Thrombocytopenia, Lymphopenia, Anemia |
OMIM:620365 |
| Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnorm... |
ORPHA:562639 |
| Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... |
OMIM:200995 |
| Congenital Analbuminemia |
|
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Microphthalmia, Oligohydramnios |
ORPHA:228390 |
| Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p... |
ORPHA:449395 |
| Immunodeficiency 22 |
|
Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased proportion of CD4-p... |
OMIM:615758 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... |
OMIM:263200 |
| Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Very long chain fatty acid acc... |
ORPHA:98908 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Urinary incontinence, Cachexia, Dysphagia |
ORPHA:300605 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Obesity |
ORPHA:66628 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Anemia |
ORPHA:3405 |
| Pierpont Syndrome |
|
Microphthalmia |
OMIM:602342 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Anemia, Hepatic arteriovenous malformation, Polycythemia, Cirrhosis |
OMIM:600376 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hypertriglyceridemia, Lipodystr... |
OMIM:608594 |
| Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia |
ORPHA:702 |
| Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
| Rheumatoid Arthritis |
|
Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:180300 |
| Lead Poisoning |
|
Decreased HDL cholesterol concentration, Small for gestational age, Chronic kidney disease, Imbal... |
ORPHA:330015 |
| Cat-Eye Syndrome |
|
Microphthalmia |
ORPHA:195 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi... |
OMIM:608612 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Obesity |
ORPHA:179494 |
| Trisomy 18 |
|
Ventricular septal defect, Cachexia, Esophageal atresia, Cryptorchidism, Narrow palate, Cleft pal... |
ORPHA:3380 |
| Fanconi Anemia, Complementation Group J |
|
Microphthalmia |
OMIM:609054 |
| Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Xerostomia, Enlarged la... |
ORPHA:449432 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Increased circulating lactate dehydrogenase concentra... |
ORPHA:747 |
| Warburg Micro Syndrome 1 |
|
Microphthalmia |
OMIM:600118 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Adrenocorticotropic hormone deficiency, Increased body weight, ... |
ORPHA:1501 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Hypertriglyceridemia, Lipodystr... |
OMIM:269700 |
| Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Hiatus hernia, Overweight, Persistence of hemoglobin F, Increased size... |
OMIM:619769 |
| Hamamy Syndrome |
|
Hypochromic anemia, Microcytic anemia |
OMIM:611174 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia, Hydrocephalus |
OMIM:300863 |
| Imerslund-Grasbeck Syndrome 1 |
|
Megaloblastic anemia |
OMIM:261100 |
| Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Iron deficiency anemia, Biliary tract abnormality, Bile duct polyp |
OMIM:175200 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Ventral hernia, Inguinal hernia, Hypertriglyceridemia, Widened atrophic scar, Celluli... |
ORPHA:536532 |
| Mirizzi Syndrome |
|
Dark urine, Elevated hepatic transaminase, Pancreatitis, Jaundice, Elevated circulating alkaline ... |
ORPHA:521219 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protei... |
OMIM:615688 |
| Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
| Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia, Holoprosencephaly |
OMIM:147250 |
| Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... |
ORPHA:103918 |
| Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia, Osteoporosis, Pathologic frac... |
OMIM:307030 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia |
OMIM:249270 |
| Feingold Syndrome |
|
Abnormality of the spleen, Annular pancreas, Esophageal atresia, Duodenal atresia |
ORPHA:1305 |
| Reni Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:266120 |
| Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Anemia |
ORPHA:85451 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Hydromyelia, Occipital meni... |
ORPHA:268810 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemic pallor, Anemia |
ORPHA:329971 |
| Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Pericarditis, Myocarditis, Leukocytosis, Oliguria, Weight loss, Pancreatitis |
ORPHA:188 |
| Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neut... |
OMIM:251100 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Hydrocephalus, Abnormally large globe |
OMIM:615249 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polycystic kidney dysplasia, Polysplenia |
OMIM:211890 |
| Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Odynophagia, Leukopenia, Hypoalbuminemia, Abn... |
ORPHA:99826 |
| Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
| Pulmonary Arteriovenous Malformation |
|
Iron deficiency anemia, Liver abscess |
ORPHA:2038 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia |
OMIM:239200 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Loeffler Endocarditis |
|
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... |
ORPHA:75566 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Anemia, Decreased circulating total IgM, Decreased circulating IgG le... |
OMIM:612301 |
| Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
| Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Decreased circulating an... |
ORPHA:99867 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia |
ORPHA:48431 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level,... |
ORPHA:29072 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia, Duodenal ulcer, Steatorrhea, Malabsorption |
ORPHA:3217 |
| Occipital Horn Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ur... |
OMIM:304150 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Leukocytosis, Hyperkalemia, Hypocalcemia, Pallor, Pancreatitis, T... |
ORPHA:544482 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... |
ORPHA:456312 |
| Wild Type Attr Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Gastrointestinal dysmotility, Weight loss, Nephro... |
ORPHA:330001 |
| Diamond-Blackfan Anemia 11 |
|
Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
| Rett Syndrome |
|
Gastroesophageal reflux, Cachexia |
OMIM:312750 |
| Myopathy, Mitochondrial, And Ataxia |
|
Pallor, Elevated circulating creatine kinase concentration |
OMIM:617675 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Obes... |
ORPHA:79102 |
| Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Atrial septal defect, Ventricular septal defect, Intestinal malrotation, ... |
OMIM:605039 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Anemia, Hepatic arteriovenous malformation, Polycythemia, Cirrhosis |
OMIM:187300 |
| Hereditary Orotic Aciduria |
|
Splenomegaly, Impaired T cell function, Anemia |
ORPHA:30 |
| Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Portal hypertension, Pancreatic cysts, Situs inversus totalis, Bili... |
OMIM:267010 |
| Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
| Adams-Oliver Syndrome |
|
Encephalocele, Hydrocephalus, Leukopenia, Microphthalmia, Ascites, Thrombocytopenia |
ORPHA:974 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Macrocytic anemia, Hypersegmentation of neutrophil nuclei |
OMIM:615578 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia,... |
OMIM:227645 |
| Lathosterolosis |
|
Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos... |
OMIM:607330 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Paten... |
OMIM:277380 |
| Pelvis-Shoulder Dysplasia |
|
Microphthalmia, Spina bifida occulta |
OMIM:169550 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Microphthalmia, Occipital encephalocele, Hydrocephalus, Optic nerve hypoplasia |
ORPHA:370959 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Microphthalmia |
OMIM:619694 |
| Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Pericardial effusion, Abnormality of the lymphatic system, Hepato... |
ORPHA:464329 |
| Nephroblastoma |
|
Hematuria, Neoplasm of the liver, Lymphadenopathy, Weight loss |
ORPHA:654 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hypertriglyceridemia, Hyperlipidemia, Osteoporosis, Gout, Increased susceptibility to... |
ORPHA:79259 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Cachexia, Abnormal large intestine morphology, Narrow palate, Hamartomatous... |
ORPHA:109 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:600901 |
| Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Weight loss, Lymphadenopathy, ... |
ORPHA:1332 |
| Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Hepatic cysts, Pancreatic cysts, Stage 5 chronic kidney d... |
OMIM:614377 |
| Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration, Anemia |
OMIM:266900 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Obesity, Joint hypermobility |
ORPHA:369837 |
| Oculopharyngodistal Myopathy |
|
Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ... |
ORPHA:98897 |
| Microphthalmia, Syndromic 8 |
|
Microphthalmia |
OMIM:601349 |
| Temtamy Syndrome |
|
Microphthalmia |
ORPHA:1777 |
| Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia, Dehydration |
OMIM:214150 |
| Degcags Syndrome |
|
Hepatomegaly, Pancytopenia, Congenital hypoplastic anemia, Patent ductus arteriosus, Cholestasis,... |
OMIM:619488 |
| Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas, Duodenal atresia |
ORPHA:1203 |
| Vacterl With Hydrocephalus |
|
Anophthalmia, Spina bifida, Polyhydramnios, Aqueductal stenosis, Hydrocephalus, Microphthalmia |
ORPHA:3412 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
| Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
| Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
| Lynch Syndrome |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the pan... |
ORPHA:144 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Microphthalmia, Oligohydramnios |
OMIM:619053 |
| Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
| Familial Chylomicronemia Syndrome |
|
Hypertriglyceridemia, Hyperlipidemia, Increased circulating chylomicron concentration, Decreased ... |
ORPHA:444490 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Erythroid... |
OMIM:300653 |
| Joubert Syndrome 14 |
|
Encephalocele, Microphthalmia, Hydrocephalus, Meningocele |
OMIM:614424 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia, Hydrocephalus |
ORPHA:163966 |
| Juvenile Dermatomyositis |
|
Calcinosis, Gastrointestinal hemorrhage, Pericarditis, Elevated circulating creatine kinase conce... |
ORPHA:93672 |
| Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Sarcoidosis |
|
Increased T cell count, Nephrocalcinosis, Leukopenia, Tubulointerstitial nephritis, Hemolytic ane... |
ORPHA:797 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227650 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Microphthalmia |
OMIM:300887 |
| Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Hepatomegaly, Mitral valve calcification, Abnormal circulating calcium c... |
ORPHA:60025 |
| Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Anemia |
OMIM:617883 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Microphthalmia |
ORPHA:93267 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele |
OMIM:607597 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microphthalmia, Lymphedema |
OMIM:152950 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia, Hydrocephalus, Polyhydramnios |
ORPHA:3301 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
| Microcephaly-Micromelia Syndrome |
|
Aqueductal stenosis, Microphthalmia, Neonatal death, Oligohydramnios |
OMIM:251230 |
| Klatskin Tumor |
|
Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis, Weight loss, Lymphadenopathy |
ORPHA:99978 |
| Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombo... |
ORPHA:1572 |
| Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619802 |
| Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
| Trisomy 13 |
|
Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia, Hydrops fetalis |
ORPHA:3378 |
| Anterior Segment Dysgenesis 5 |
|
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
| Non-Functioning Pituitary Adenoma |
|
Pallor, Anemia of inadequate production |
ORPHA:91349 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Steatorrhea, Failure to thrive, Hepatic stea... |
OMIM:616263 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukocytosis, Weight loss, Anemia, Leukopenia, Hematuria, Lymphadenopathy, Neutrope... |
ORPHA:520 |
| Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
| Joubert Syndrome 22 |
|
Microphthalmia |
OMIM:615665 |
| Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulm... |
ORPHA:100080 |
| Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Abnormal erythrocyte morphology, Folate-unresponsive megaloblastic anemia, Megaloblastic anemia |
ORPHA:2575 |
| Hirschsprung Disease |
|
Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Failure to thrive in infancy... |
ORPHA:388 |
| Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
| Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec... |
OMIM:256700 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
| Gm1 Gangliosidosis |
|
Ventricular septal defect, Splenomegaly, Hepatosplenomegaly, Weight loss, Macroglossia, Abnormal ... |
ORPHA:354 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... |
ORPHA:3261 |
| Familial Exudative Vitreoretinopathy |
|
Microphthalmia, Macular edema, Lymphedema |
ORPHA:891 |
| Meckel Syndrome 14 |
|
Occipital encephalocele, Increased nuchal translucency, Holoprosencephaly, Microphthalmia, Oligoh... |
OMIM:619879 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Weight loss, Cardiomyopathy, Nephropathy, Abnormal renal physiology |
ORPHA:85447 |
| Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
| Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
| Jacobsen Syndrome |
|
Hypospadias, Ventricular septal defect, Pyloric stenosis, Cryptorchidism, Atrial septal defect, A... |
OMIM:147791 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethasone suppression test... |
ORPHA:189427 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Microphthalmia, Increased nuchal translucency, Oligohydramnios |
OMIM:618494 |
| Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality o... |
OMIM:137920 |
| Erythrokeratodermia Variabilis |
|
Abnormal testis morphology, Weight loss |
ORPHA:317 |
| Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, Agammaglobulinemia, T lymphocytopenia, Decreased... |
OMIM:300755 |
| Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... |
ORPHA:100086 |
| Birk-Aharoni Syndrome |
|
Macrocytic anemia |
OMIM:620071 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
| Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
| Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperlipidemia, Osteop... |
ORPHA:77293 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Anemia, Decreased circulating antibody level |
ORPHA:169105 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Atrioventricular c... |
OMIM:265380 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Hydrocephalus |
OMIM:616538 |
| Tyrosinemia, Type Iii |
|
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Elevated hepat... |
OMIM:276710 |
| Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Pancreatic fibrosis, Aplasi... |
ORPHA:564 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Osteolysis, Generalized lipodystrophy, Osteolytic defects of the dist... |
ORPHA:90154 |
| Gitelman Syndrome |
|
Neoplasm of the pancreas, Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hyp... |
ORPHA:358 |
| Atypical Werner Syndrome |
|
Sclerosis of hand bone, Increased bone mineral density, Hypertriglyceridemia, Lipoatrophy, Limita... |
ORPHA:79474 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Normochromic anemia, Elevated circulating creatine kinase concentration, Thromboc... |
OMIM:618775 |
| Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulm... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulm... |
ORPHA:100082 |
| Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Abnormality of the pancreas, Lymphopenia, Anemia |
ORPHA:935 |
| Distal Deletion 12Q |
|
Unilateral cryptorchidism, Failure to thrive in infancy, Ectopic kidney, High, narrow palate, Eso... |
ORPHA:96149 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosis, Thymoma, Decreased ... |
ORPHA:227990 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Ulcerative colitis, Weight loss, Inflammation of the large intestine, Cro... |
OMIM:266600 |
| Vexas Syndrome |
|
Thrombocytopenia, Macrocytic anemia, Elevated circulating C-reactive protein concentration |
OMIM:301054 |
| Feingold Syndrome 1 |
|
Accessory spleen, Jejunal atresia, Ventricular septal defect, Tricuspid stenosis, Asplenia, Esoph... |
OMIM:164280 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Hypertriglyceridemia, Elevated hemoglobin A1c, Joint stiffness, Flexion contracture, ... |
OMIM:619127 |
| Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Aganglionic megacolon, Intestinal m... |
OMIM:229850 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomeg... |
ORPHA:729 |
| Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Viral hepatitis, Membranoproliferative glomerulonephr... |
ORPHA:48435 |
| Nephronophthisis 4 |
|
Anemia |
OMIM:606966 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss, Hemophagocytosis, Hepatosplenomegaly |
ORPHA:86884 |
| Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia |
OMIM:127000 |
| Acute Transverse Myelitis |
|
Decreased circulating copper concentration, Urinary incontinence, Paralytic ileus, Urinary retent... |
ORPHA:139417 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia |
ORPHA:2788 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Umbilical hernia, Edema |
ORPHA:2505 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Iron deficiency anemia, Exocrine pancreatic insufficiency |
ORPHA:309031 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Microphthalmia |
ORPHA:1791 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
| Nephronophthisis 11 |
|
Hepatic fibrosis, Anemia |
OMIM:613550 |
| Simple Cryoglobulinemia |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Renal insufficiency, Memb... |
ORPHA:91139 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Aganglionic megacolon, Abnormal hemoglobin, Cryptorchidism, Macroglossia, Ga... |
ORPHA:847 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
| Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Weight loss, Hepatomegaly |
ORPHA:33577 |
| Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
| Frontorhiny |
|
Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele |
ORPHA:391474 |
| Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Weight loss |
ORPHA:1164 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Nodular regenerative hyperplasia of liver, Elevated circulating creatinine con... |
ORPHA:247691 |
| Acquired Hypertrichosis Lanuginosa |
|
Weight loss, Lymphadenopathy, Macroglossia, Ovarian neoplasm, Glossitis |
ORPHA:2221 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Autoimmune thrombocytopenia, Hepatitis, Biliary cirrhosis, Thymoma, Decreased ... |
ORPHA:227982 |
| Atelosteogenesis Type I |
|
Malrotation of colon, Abnormal pancreatic duct morphology, Multiple renal cysts, Cleft palate |
ORPHA:1190 |
| Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
| Anaplastic Thyroid Carcinoma |
|
Tracheoesophageal fistula, Weight loss, Lymphadenopathy, Dysphagia, Nodular goiter, Goiter |
ORPHA:142 |
| Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia |
OMIM:613456 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Renal insufficiency, Intestinal obstruction, Proteinuria, Eosinophilia, Abnormal pericardium morp... |
ORPHA:183 |
| Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Intestinal malrotation, Pyloric stenosis... |
ORPHA:2308 |
| Multiple Endocrine Neoplasia Type 2 |
|
Neoplasm of the liver, Cervical lymphadenopathy, Hypercalcemia, Pallor |
ORPHA:653 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
OMIM:606721 |
| Malignant Peritoneal Mesothelioma |
|
Peritonitis, Ileus, Weight loss |
ORPHA:168811 |
| Deafness, X-Linked 7 |
|
Unilateral microphthalmos |
OMIM:301018 |
| Fanconi Anemia, Complementation Group F |
|
Polyhydramnios, Thrombocytopenia, Leukopenia, Microphthalmia, Anemia |
OMIM:603467 |
| Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Renal insufficiency, Ureteral stenosis, Proteinuria, Intestinal obst... |
ORPHA:900 |
| Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
| Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Lipoatrophy |
ORPHA:363618 |
| Mosaic Trisomy 9 |
|
Polyhydramnios, Spina bifida, Asplenia, Hydrops fetalis, Microphthalmia, Oligohydramnios |
ORPHA:99776 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly |
OMIM:259730 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:614833 |
| Campomelia, Cumming Type |
|
Hepatomegaly, Multicystic kidney dysplasia, Pancreatic cysts, Abnormality of the pancreas, Cleft ... |
ORPHA:1318 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Ventricular septal defect, Clef... |
OMIM:263520 |
| Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
| Pancreatitis, Hereditary |
|
Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Exocrine pancreatic i... |
OMIM:167800 |
| Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Micropht... |
OMIM:153400 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Abnormal heart valve morphology, Abnormality of the spleen, Pyl... |
ORPHA:1606 |
| Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
| Stromme Syndrome |
|
Accessory spleen, Optic nerve hypoplasia, Hydrocephalus, Stillbirth, Microphthalmia |
OMIM:243605 |
| Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Zollinger-Ellison synd... |
ORPHA:652 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Microphthalmia, Lens coloboma, Umbilical hernia |
OMIM:618914 |
| Seckel Syndrome 2 |
|
Microphthalmia |
OMIM:606744 |
| Rat-Bite Fever |
|
Pericarditis, Lymphadenitis, Myocarditis, Endocarditis, Weight loss, Anemia, Pancreatitis, Parotitis |
ORPHA:31205 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Megaloblastic anemia, Elevated circulating palmitoleylcarnitine concentration,... |
ORPHA:79284 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Polyhydramnios, Hydrocephalus, Umbilical hernia, Holoprosencephaly, Microphthalmia |
ORPHA:2166 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia |
OMIM:222300 |
| Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Patent ductus arteriosus, Reticulocytopenia, Steroid-responsive anemia, Anemia |
OMIM:613309 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Hepatic hemangioma, Microangiopathic hemolytic ane... |
ORPHA:2330 |
| Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Weight loss, Vesicoureteral reflux, Hypertrophic cardiomyopathy, Le... |
ORPHA:3208 |
| Incontinentia Pigmenti |
|
Leukocytosis, Erythema, Eosinophilia, Pallor |
OMIM:308300 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age |
OMIM:256300 |
| Microphthalmia, Syndromic 9 |
|
Patent ductus arteriosus, Hypoplastic spleen, Multilobulated spleen |
OMIM:601186 |
| Tangier Disease |
|
Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
ORPHA:31150 |
| Osteosarcoma |
|
Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat... |
ORPHA:668 |
| Anterior Segment Dysgenesis 2 |
|
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia |
OMIM:610256 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr... |
ORPHA:97287 |
| Choreoacanthocytosis |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
ORPHA:2388 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Microphthalmia, Hydrocephalus, Holoprosencephaly |
OMIM:253800 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia |
ORPHA:3191 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Microphthalmia, Hydrocephalus, Holoprosencephaly |
OMIM:264480 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormal mitral valve morphology, Short hard palate, Cachexia |
ORPHA:1969 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia, Encephalocele, Hydrocephalus |
OMIM:613150 |
| Neurooculocardiogenitourinary Syndrome |
|
Microphthalmia |
OMIM:618652 |
| Nance-Horan Syndrome |
|
Microphthalmia |
ORPHA:627 |
| Chronic Beryllium Disease |
|
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss |
ORPHA:133 |
| Fanconi Anemia |
|
Leukopenia, Abnormality of the liver, High palate, Atrial septal defect, Hypospadias, Aplasia/Hyp... |
ORPHA:84 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Atrial septal defect, Annular pancreas, High palate, Elevated circulating alkaline phosphatase co... |
OMIM:618162 |
| Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia, Lymphopenia, Neutropenia |
OMIM:616395 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Anemia |
OMIM:174000 |
| Walker-Warburg Syndrome |
|
Microphthalmia, Hydrocephalus, Anophthalmia |
ORPHA:899 |
| Trisomy 8P |
|
Abnormal atrioventricular connection, Cryptorchidism, Malrotation of small bowel, Annular pancrea... |
ORPHA:264450 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:614105 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Microphthalmia, Holoprosencephaly |
OMIM:612530 |
| Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia, Weight loss |
ORPHA:3165 |
| Heart And Brain Malformation Syndrome |
|
Microphthalmia, Polyhydramnios |
OMIM:616920 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Intestinal pseudo-obstruction, Dilated cardiomyopathy, Weight loss, Mitral valve prolapse, Dyspha... |
OMIM:607459 |
| Familial Thrombocytosis |
|
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis |
ORPHA:71493 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Failure to thrive, Pancreatic fibrosis |
OMIM:615503 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Failure to thrive, Hypertriglyceridemia, Failure to thrive in infancy, Joint hypermobility |
OMIM:619418 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Microphthalmia |
OMIM:610756 |
| Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
| Cornea Plana 2, Autosomal Recessive |
|
Microphthalmia |
OMIM:217300 |
| Pancreatic And Cerebellar Agenesis |
|
Secundum atrial septal defect, Pancreatic hypoplasia, Failure to thrive, Anemia, Pancreatic aplasia |
OMIM:609069 |
| Pancreatic Agenesis 2 |
|
Small for gestational age, Pancreatic aplasia, Steatorrhea, Pancreatic hypoplasia, Exocrine pancr... |
OMIM:615935 |
| Joubert Syndrome 37 |
|
Microphthalmia |
OMIM:619185 |
| Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia, Hydrocephalus |
OMIM:613001 |
| Aromatase Deficiency |
|
Osteopenia, Eunuchoid habitus, Delayed epiphyseal ossification, Hyperlipidemia, Osteoporosis, Obe... |
ORPHA:91 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Flexion contracture, Limitation of joint mobility, Osteolysis, Osteolytic defects... |
ORPHA:90153 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Iron deficiency anemia |
ORPHA:93315 |
| Bartsocas-Papas Syndrome 2 |
|
Microphthalmia |
OMIM:619339 |
| Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
| Oculopharyngodistal Myopathy 1 |
|
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Weight loss, High pal... |
OMIM:164310 |
| Wrinkly Skin Syndrome |
|
Failure to thrive, Cryptorchidism, High palate, High nonceruloplasmin-bound serum copper, Atrial ... |
ORPHA:2834 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia |
OMIM:167730 |
| Erdheim-Chester Disease |
|
Renal insufficiency, Dysuria, Abnormal pericardium morphology, Retroperitoneal fibrosis, Weight l... |
ORPHA:35687 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Microphthalmia |
OMIM:212550 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Chronic active hepatitis, Biliary cirrhosis, Skin ulcer, Chronic hepatitis, Ly... |
ORPHA:289390 |
| Seckel Syndrome 10 |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:617253 |
| Frontonasal Dysplasia 2 |
|
Encephalocele, Microphthalmia, Oligohydramnios |
OMIM:613451 |
| Mycophenolate Mofetil Embryopathy |
|
Microphthalmia, Hydrocephalus, Hydrops fetalis |
ORPHA:268249 |
| Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hydromyelia |
OMIM:600145 |
| Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Bilateral microphthalmos, Spina bifida |
ORPHA:2839 |
| Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Splenomegaly, Neo... |
ORPHA:744 |
| Familial Multiple Lipomatosis |
|
Hyperlipidemia, Lipodystrophy, Increased adipose tissue |
ORPHA:199276 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Granulocytopenia |
OMIM:606164 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:163649 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Abnormal pericardium morphology, Intestinal perf... |
ORPHA:679 |
| Myoclonic-Astatic Epilepsy |
|
Microphthalmia |
ORPHA:1942 |
| Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Hepatoblastoma, Iron deficiency anemia |
ORPHA:261584 |
| Temtamy Syndrome |
|
Microphthalmia |
OMIM:218340 |
| Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Failure to thrive, Hypoplastic tricuspid valve, Small for gestational age, ... |
ORPHA:2255 |
| Peritoneal Cystic Mesothelioma |
|
Peritonitis, Weight loss |
ORPHA:168816 |
| Giant Cell Arteritis |
|
Renal insufficiency, Pericarditis, Mediastinal lymphadenopathy, Weight loss, Hematuria, Gastroint... |
ORPHA:397 |
| Alg3-Cdg |
|
Neural tube defect |
ORPHA:79321 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia |
ORPHA:220295 |
| Moebius Syndrome |
|
Microphthalmia |
OMIM:157900 |
| 8P23.1 Microdeletion Syndrome |
|
Hypospadias, Cryptorchidism, Obesity, Weight loss, Hypertrophic cardiomyopathy, Abnormal cardiac ... |
ORPHA:251071 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Microphthalmia, Hydrocephalus, Optic nerve hypoplasia |
OMIM:614643 |
| Sandestig-Stefanova Syndrome |
|
Microphthalmia |
OMIM:618804 |
| Congenital Fibrinogen Deficiency |
|
Microphthalmia, Splenic rupture |
ORPHA:335 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Cleft palate, Abnormal cardiac septum morphology, Urinary retention, Severe failure... |
ORPHA:97297 |
| Baraitser-Winter Syndrome 1 |
|
Microphthalmia |
OMIM:243310 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Hepatomegaly, Failure to thrive, Cholangitis, Pancreatic cysts, Congenital ... |
OMIM:266920 |
| Graves Disease, Susceptibility To, 1 |
|
Weight loss, Goiter |
OMIM:275000 |
| Rere-Related Neurodevelopmental Syndrome |
|
Microphthalmia |
ORPHA:494344 |
| Marfan Syndrome |
|
Mitral valve calcification, Cachexia, High, narrow palate, Cleft palate, Mitral valve prolapse, S... |
ORPHA:558 |
| Schinzel-Giedion Syndrome |
|
Streak ovary, Hypospadias, Aganglionic megacolon, Failure to thrive in infancy, Abnormality of th... |
ORPHA:798 |
| Yao Syndrome |
|
Ventricular hypertrophy, Pericarditis, Xerostomia, Nephrolithiasis, Weight loss |
OMIM:617321 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Microphthalmia, Anencephaly |
OMIM:619148 |
| Holoprosencephaly 7 |
|
Occipital meningocele, Alobar holoprosencephaly, Hydrocephalus, Bilateral microphthalmos, Lobar h... |
OMIM:610828 |
| Curry-Jones Syndrome |
|
Occipital meningocele, Microphthalmia, Lipomyelomeningocele |
OMIM:601707 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Pallor |
ORPHA:137675 |
| Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... |
OMIM:250250 |
| Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia |
ORPHA:139471 |
| Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Weight loss |
OMIM:191390 |
| Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
| Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
| Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
| Stevenson-Carey Syndrome |
|
Microphthalmia |
OMIM:611961 |
| Pneumocystosis |
|
Increased circulating lactate dehydrogenase concentration, Weight loss, Abnormal neutrophil count |
ORPHA:723 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Macrocytic anemia |
ORPHA:98673 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Ventricular septal defect, Cryptorchidism, Renal cyst, Furrowed tongue, High palate,... |
OMIM:616975 |
| Joubert Syndrome 2 |
|
Encephalocele, Microphthalmia, Hydrocephalus |
OMIM:608091 |
| Refsum Disease |
|
Splenomegaly, Microphthalmia |
ORPHA:773 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Microphthalmia, Polyhydramnios, Edema |
OMIM:302960 |
| Stickler Syndrome |
|
Slender build, Cachexia, Cleft palate, Mitral valve prolapse, Macroglossia, Glossoptosis, Gastroe... |
ORPHA:828 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Umbilical hernia, Bilateral microphthalmos |
ORPHA:369891 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Mediastinal lymphadenopathy, Weight loss, Failure to thrive, Enlarged kidney |
ORPHA:79128 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Hydrocephalus, Buphthalmos... |
OMIM:236670 |
| Cap Polyposis |
|
Hematochezia, Atrophic gastritis, Colorectal polyposis, Weight loss |
ORPHA:160148 |
| Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ketonuria, Weight loss, Renal tubular dysfunction, Abnormal heart morphology, ... |
ORPHA:99885 |
| Otodental Syndrome |
|
Microphthalmia, Lens coloboma |
ORPHA:2791 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Splenomegaly, Medi... |
OMIM:181000 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Polyhydramnios, Increased nuchal translucency, Acute lymphoblastic leukemia, Holoprosencephaly, M... |
ORPHA:1052 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Microphthalmia |
ORPHA:404440 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Esophageal stenosis, Proteinuria, Hypoperistalsis, Esophageal neoplasm, Chronic kidney disease, S... |
ORPHA:1018 |
| Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pericardial effusion... |
ORPHA:91347 |
| Prolactinoma |
|
Pallor |
ORPHA:2965 |
| Fanconi Anemia, Complementation Group L |
|
Microphthalmia, Hydrocephalus, Anemia |
OMIM:614083 |
| Riddle Syndrome |
|
Generalized lymphadenopathy, Weight loss, Elevated circulating alpha-fetoprotein concentration, E... |
ORPHA:420741 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Normochromic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:254900 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Microphthalmia |
OMIM:305390 |
| Microphthalmia With Limb Anomalies |
|
Microphthalmia, Anophthalmia |
OMIM:206920 |
| Thymic Carcinoma |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss |
ORPHA:99868 |
| Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
| Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia |
OMIM:614526 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:617914 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Lymphadenopathy, Weight loss |
ORPHA:411703 |
| Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
| Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipoatrophy, Camptodactyly... |
ORPHA:3455 |
| Warburg Micro Syndrome 4 |
|
Microphthalmia |
OMIM:615663 |
| Holoprosencephaly |
|
Encephalocele, Anophthalmia, Abnormality of the spleen, Hydrocephalus, Spinal dysraphism, Branchi... |
ORPHA:2162 |
| Galloway-Mowat Syndrome 3 |
|
Microphthalmia, Edema, Oligohydramnios |
OMIM:617729 |
| Pierson Syndrome |
|
Rieger anomaly, Hypoplasia of the ciliary body, Edema, Hypoplasia of the iris, Macular hypoplasia... |
OMIM:609049 |
| Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Polysplenia |
OMIM:614294 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Renal salt wasting, Long penis, Hyperkalemia, Testicular adrenal rest tumor, Elevat... |
ORPHA:90794 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss, Lymphadenopathy, Anemia, Hepatosplenomegaly |
ORPHA:85408 |
| Glycogen Storage Disease Ia |
|
Hyperlipidemia, Osteoporosis, Gout, Xanthelasma, Hyperuricemia |
OMIM:232200 |
| 17Q12 Microdeletion Syndrome |
|
Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Cryptorchidism,... |
ORPHA:261265 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Microphthalmia, Bilateral microphthalmos |
ORPHA:2399 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Joint hemorrhage, Hyperuricemia |
ORPHA:35909 |
| Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Weight ... |
OMIM:233450 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Small for gestational age, Cryptorchidism, Anteriorly placed anus, High palate, Annular pancreas |
OMIM:268400 |
| Vitreoretinochoroidopathy |
|
Microphthalmia |
OMIM:193220 |
| 3P25.3 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:435638 |
| Steinfeld Syndrome |
|
Microphthalmia, Holoprosencephaly |
OMIM:184705 |
| Marden-Walker Syndrome |
|
Microphthalmia |
OMIM:248700 |
| Curry-Jones Syndrome |
|
Microphthalmia |
ORPHA:1553 |
| Alternating Hemiplegia Of Childhood |
|
Pallor |
ORPHA:2131 |
| Cousin Syndrome |
|
Hydranencephaly, Microphthalmia, Hydrocephalus |
OMIM:260660 |
| Warburg Micro Syndrome 3 |
|
Microphthalmia |
OMIM:614222 |
| Renal Nutcracker Syndrome |
|
Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria, Anemia |
ORPHA:71273 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni... |
OMIM:277400 |
| Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Small for gestational age, Lipoatrophy... |
OMIM:264090 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Retroperitoneal fibrosis, Xerostomia, Enlarged lacrimal glands, Weight loss, Enlargement of parot... |
ORPHA:79078 |
| Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia |
OMIM:617306 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
| Lesch-Nyhan Syndrome |
|
Hyperuricemia, Megaloblastic anemia |
OMIM:300322 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Edema, Lymphedema, Chylothorax, Leukemia, Microphthalmia, Pleural effusion |
ORPHA:2526 |
| Coloboma, Ocular, Autosomal Dominant |
|
Microphthalmia, Optic nerve aplasia |
OMIM:120200 |
| Mosaic Trisomy 1 |
|
Microphthalmia, Increased nuchal translucency, Polyhydramnios |
ORPHA:1692 |
| Fetal Alcohol Syndrome |
|
Microphthalmia |
ORPHA:1915 |
| Atelis Syndrome 2 |
|
Microphthalmia, Thrombocytopenia, Anemia |
OMIM:620185 |
| Oculoauricular Syndrome |
|
Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta |
OMIM:612109 |
| Kearns-Sayre Syndrome |
|
Sideroblastic anemia |
OMIM:530000 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Microphthalmia |
OMIM:620098 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Microphthalmia, Stillbirth |
OMIM:616300 |
| Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Premature skin wrinkling, Poikilocytosis, Acanthocytosis |
OMIM:618947 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Annular pancreas, Ankyloglossia, Cleft palate |
ORPHA:488642 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Small for gestational age, Exocrine pancreatic insufficiency, Elevated circul... |
OMIM:618500 |
| Papillorenal Syndrome |
|
Microphthalmia, Edema |
OMIM:120330 |
| Neu-Laxova Syndrome 1 |
|
Polyhydramnios, Spina bifida, Stillbirth, Neonatal death, Short umbilical cord, Small placenta, H... |
OMIM:256520 |
| Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
| Kapur-Toriello Syndrome |
|
Microphthalmia |
ORPHA:2328 |
| Norrie Disease |
|
Hypoplasia of the iris, Microphthalmia, Buphthalmos |
OMIM:310600 |
| Behçet Disease |
|
Gastrointestinal hemorrhage, Renal insufficiency, Pericarditis, Malabsorption, Orchitis, Splenome... |
ORPHA:117 |
| Oculofaciocardiodental Syndrome |
|
Microphthalmia |
ORPHA:2712 |
| Basal Cell Nevus Syndrome 1 |
|
Microphthalmia, Hydrocephalus, Spina bifida |
OMIM:109400 |
| Focal Dermal Hypoplasia |
|
Hypoplasia of the iris, Microphthalmia, Umbilical hernia, Spina bifida |
ORPHA:2092 |
| 1Q21.1 Microdeletion Syndrome |
|
Microphthalmia, Hydrocephalus |
ORPHA:250989 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
OMIM:616449 |
| Duane-Radial Ray Syndrome |
|
Microphthalmia, Spina bifida occulta, Optic disc hypoplasia |
OMIM:607323 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia |
OMIM:234050 |
| Alagille Syndrome 1 |
|
Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia |
OMIM:118450 |
| Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Microphthalmia |
OMIM:241410 |
| Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Hydrocephalus, Holoprosencephaly, Microphthalmia |
OMIM:610829 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Polyhydramnios, Anencephaly, Stillbirth, Severe hydrocephalus, Microphthalmia |
OMIM:236680 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microphthalmia |
OMIM:618571 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Megaloblastic anemia, Hypoglycinemia, Hyposerinemia |
ORPHA:79351 |
| Pallister-Hall Syndrome |
|
Neonatal death, Microphthalmia, Holoprosencephaly |
OMIM:146510 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
| Malt Lymphoma |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Weight loss |
ORPHA:52417 |
| Meckel Syndrome, Type 1 |
|
Accessory spleen, Occipital encephalocele, Asplenia, Splenomegaly, Hydrocephalus, Large placenta,... |
OMIM:249000 |
| 3Q29 Microduplication Syndrome |
|
Aniridia, Microphthalmia |
ORPHA:251038 |
| Monosomy 9Q22.3 |
|
Microphthalmia, Hydrocephalus, Umbilical hernia |
ORPHA:77301 |
| Mucolipidosis Type Ii |
|
Abnormal mitral valve morphology, Splenomegaly, Weight loss, Hepatosplenomegaly, Cardiomyopathy, ... |
ORPHA:576 |
| Incontinentia Pigmenti |
|
Microphthalmia, Spina bifida occulta, Umbilical hernia, Eosinophilia |
ORPHA:464 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Microphthalmia |
ORPHA:35173 |
| Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia |
OMIM:619135 |
| Martsolf Syndrome 1 |
|
Microphthalmia |
OMIM:212720 |
| Galloway-Mowat Syndrome 1 |
|
Hypoplasia of the iris, Microphthalmia, Oligohydramnios |
OMIM:251300 |
| Micro Syndrome |
|
Microphthalmia |
ORPHA:2510 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Bilateral microphthalmos |
OMIM:610758 |
| Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Renal insufficiency, Malabsorption, Weight loss, Cardiomyopathy, Neu... |
ORPHA:79430 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss, Dysphagia |
ORPHA:216866 |
| Esophageal Atresia |
|
Pallor |
ORPHA:1199 |
| Fryns Syndrome |
|
Microphthalmia, Polyhydramnios |
ORPHA:2059 |
| Hallermann-Streiff Syndrome |
|
Microphthalmia, Spina bifida |
OMIM:234100 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microphthalmia |
ORPHA:2728 |
| 22Q11.2 Deletion Syndrome |
|
Spina bifida, Polyhydramnios, Splenomegaly, Hydrocephalus, Meningocele, Occipital myelomeningocel... |
ORPHA:567 |
| Cohen Syndrome |
|
Microphthalmia, Neutropenia |
ORPHA:193 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Jaundice, Hyperammonemia, Hyperh... |
ORPHA:79282 |
| Warburg Micro Syndrome 2 |
|
Microphthalmia |
OMIM:614225 |
| Nance-Horan Syndrome |
|
Microphthalmia |
OMIM:302350 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia |
ORPHA:1352 |
| Persistent Hyperplastic Primary Vitreous |
|
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia |
ORPHA:91495 |
| Fraser Syndrome 2 |
|
Microphthalmia, Hypoplasia of the thymus, Oligohydramnios |
OMIM:617666 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Thrombocytopenia, Microphthalmia, Lymphopenia, Anemia |
OMIM:620005 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor, Elevated circulating creatine kinase concentration |
OMIM:253280 |
| Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Microphthalmia |
OMIM:601812 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Microphthalmia, Oligohydramnios |
ORPHA:364577 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microphthalmia |
OMIM:257850 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
| Kapur-Toriello Syndrome |
|
Microphthalmia |
OMIM:244300 |
| Pyomyositis |
|
Renal insufficiency, Leukocytosis, Weight loss, Testicular teratoma |
ORPHA:764 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Microphthalmia |
OMIM:156610 |
| Trichothiodystrophy 1, Photosensitive |
|
Microphthalmia |
OMIM:601675 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Microphthalmia, Phthisis bulbi |
OMIM:221900 |
| Nephronophthisis-Like Nephropathy 1 |
|
Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic kidney disease, Renal corticomedullary cy... |
OMIM:613159 |
| Acrodermatitis Enteropathica |
|
Malabsorption, Weight loss, Furrowed tongue, Failure to thrive, Glossitis |
ORPHA:37 |
| Fatal Familial Insomnia |
|
Weight loss, Urinary retention, Dysphagia |
OMIM:600072 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
| Microphthalmia, Lenz Type |
|
Microphthalmia |
ORPHA:568 |
| Treacher-Collins Syndrome |
|
Encephalocele, Microphthalmia, Hypoplasia of the thymus, Branchial fistula |
ORPHA:861 |
| Chronic Graft Versus Host Disease |
|
Elevated hepatic transaminase, Pancytopenia, Phimosis, Urinary bladder inflammation, Esophageal s... |
ORPHA:99921 |
| Tetraamelia Syndrome 1 |
|
Asplenia, Microphthalmia, Hydrocephalus |
OMIM:273395 |
| 8Q21.11 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:284160 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Dehydration, Buphthalmos, Joint swelling, Anemia, Umbilical hernia, Microphthalmia, Thrombocytopenia |
ORPHA:534 |
| Trichothiodystrophy |
|
Bilateral microphthalmos, Increased mean corpuscular hemoglobin concentration, Neutropenia, Umbil... |
ORPHA:33364 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia, Holoprosencephaly |
ORPHA:3186 |
| Monosomy 13Q14 |
|
Microphthalmia, Holoprosencephaly |
ORPHA:1587 |
| 3Q29 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:65286 |
| Dubowitz Syndrome |
|
Hypoplasia of the iris, Microphthalmia, Acute lymphoblastic leukemia, Aplastic anemia |
OMIM:223370 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Microphthalmia, Hydrocephalus |
OMIM:309801 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Microphthalmia |
OMIM:614230 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:615877 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia |
OMIM:618727 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Microphthalmia, Optic nerve hypoplasia, Spina bifida |
ORPHA:508498 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228308 |
| Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Increased urinary cortisol level, Pancreatic adenocarcin... |
ORPHA:99889 |
| Oromandibular Dystonia |
|
Weight loss, Dysphagia |
ORPHA:93958 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microphthalmia |
ORPHA:464738 |
| Holoprosencephaly 1 |
|
Microphthalmia, Ethmocephaly, Alobar holoprosencephaly |
OMIM:236100 |
| Microphthalmia, Syndromic 3 |
|
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia |
OMIM:206900 |
| Norrie Disease |
|
Cryptorchidism, Failure to thrive, Cachexia |
ORPHA:649 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Microphthalmia |
OMIM:610651 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Microphthalmia |
OMIM:278730 |
| Mend Syndrome |
|
Microphthalmia, Hydrocephalus |
ORPHA:401973 |
| Cockayne Syndrome B |
|
Hypoplasia of the iris, Microphthalmia, Normal pressure hydrocephalus, Splenomegaly |
OMIM:133540 |
| Chromosome 13Q14 Deletion Syndrome |
|
Microphthalmia, Umbilical hernia, Holoprosencephaly |
OMIM:613884 |
| Ohdo Syndrome, X-Linked |
|
Microphthalmia |
OMIM:300895 |
| Cat Eye Syndrome |
|
Microphthalmia, Umbilical hernia |
OMIM:115470 |
| Microphthalmia With Limb Anomalies |
|
Microphthalmia, Hydrocephalus, True anophthalmia |
ORPHA:1106 |
| Liposarcoma |
|
Weight loss |
ORPHA:69078 |
| Aicardi Syndrome |
|
Microphthalmia, Spina bifida |
OMIM:304050 |
| Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ... |
ORPHA:97286 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia |
OMIM:300952 |
| Perry Syndrome |
|
Weight loss |
OMIM:168605 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Microphthalmia |
OMIM:110100 |
| 2Q31.1 Microdeletion Syndrome |
|
Microphthalmia |
ORPHA:251014 |
| Phace Association |
|
Microphthalmia, Optic nerve hypoplasia |
OMIM:606519 |
| Frontofacionasal Dysplasia |
|
Cranium bifidum occultum, Microphthalmia |
OMIM:229400 |
| Yunis-Varon Syndrome |
|
Polyhydramnios, Hydrocephalus, Bilateral microphthalmos, Increased nuchal translucency, Hydrops f... |
ORPHA:3472 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Goiter, Weight loss, Small for gestational age, Thyroid hyperplasia |
ORPHA:424 |
| Short Syndrome |
|
Weight loss |
ORPHA:3163 |
| Roberts Syndrome |
|
Microphthalmia, Thrombocytopenia, Polyhydramnios |
ORPHA:3103 |
| Charge Syndrome |
|
Anophthalmia, Polyhydramnios, Aqueductal stenosis, Holoprosencephaly, Microphthalmia |
ORPHA:138 |
| Momo Syndrome |
|
Bilateral microphthalmos |
ORPHA:2563 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia |
ORPHA:85167 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Aprosencephaly |
OMIM:601374 |
| Fontaine Progeroid Syndrome |
|
Hydrocephalus, Umbilical hernia, Neonatal death, Microphthalmia, Oligohydramnios |
OMIM:612289 |
| Nocardiosis |
|
Pericarditis, Liver abscess, Abnormal heart valve morphology, Lymphadenitis, Peritonitis, Endocar... |
ORPHA:31204 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Microphthalmia |
ORPHA:1236 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2250 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Microphthalmia, Aplasia of the thymus, Polyhydramnios |
OMIM:620186 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Microphthalmia |
ORPHA:306542 |
| Teebi-Shaltout Syndrome |
|
Microphthalmia |
OMIM:272950 |
| Proboscis Lateralis |
|
Microphthalmia, Holoprosencephaly, Anophthalmia, Optic nerve hypoplasia |
ORPHA:141099 |
| Granulomatosis With Polyangiitis |
|
Granulomatosis, Weight loss |
OMIM:608710 |
| Glossopharyngeal Neuralgia |
|
Odynophagia, Weight loss, Oral-pharyngeal dysphagia |
ORPHA:221098 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Unilateral microphthalmos |
OMIM:618874 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Neonatal death, Microphthalmia |
OMIM:617925 |
| Holoprosencephaly 2 |
|
Microphthalmia, Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly |
OMIM:157170 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Microphthalmia, Abnormality of the spleen, Anophthalmia |
ORPHA:2538 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Bilateral microphthalmos, Optic nerve hypoplasia, Lobar holoprosencephaly |
ORPHA:468631 |
| Focal Dermal Hypoplasia |
|
Anophthalmia, Hydrocephalus, Myelomeningocele, Umbilical hernia, Aniridia, Microphthalmia, Spina ... |
OMIM:305600 |
| African Trypanosomiasis |
|
Hepatomegaly, Renal insufficiency, Pericarditis, Urinary incontinence, Splenomegaly, Jaundice, My... |
ORPHA:3385 |
| Acquired Central Diabetes Insipidus |
|
Pollakisuria, Weight loss |
ORPHA:95626 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Microphthalmia, Hydrocephalus, Hemolytic anemia |
OMIM:175780 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Microphthalmia, Hydrocephalus, Anophthalmia |
ORPHA:2556 |
| Familial Gestational Hyperthyroidism |
|
Goiter, Weight loss, Thyroid hyperplasia |
ORPHA:99819 |
| Acro-Renal-Ocular Syndrome |
|
Microphthalmia, Optic disc hypoplasia |
ORPHA:959 |
| Isolated Arrhinia |
|
Microphthalmia |
ORPHA:1134 |
| Oculo-Palato-Cerebral Syndrome |
|
Microphthalmia |
ORPHA:2714 |
| Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
| Fraser Syndrome |
|
Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia, Microphthalmia |
ORPHA:2052 |
| Linear Nevus Sebaceus Syndrome |
|
Microphthalmia |
ORPHA:2612 |
| Acrofrontofacionasal Dysostosis 1 |
|
Microphthalmia |
OMIM:201180 |
| Oculodentodigital Dysplasia |
|
Microphthalmia |
OMIM:164200 |
| Adams-Oliver Syndrome 1 |
|
Encephalocele, Microphthalmia |
OMIM:100300 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Bilateral microphthalmos, Anemia |
ORPHA:93325 |
| Hereditary Late-Onset Parkinson Disease |
|
Weight loss, Spastic/hyperactive bladder, Dysphagia |
ORPHA:411602 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Microphthalmia, Oligohydramnios |
OMIM:608670 |
| Dermatomyositis |
|
Pericarditis, Abnormal eosinophil morphology, Gastrointestinal stroma tumor, Myocarditis, Weight ... |
ORPHA:221 |
| Cockayne Syndrome Type 3 |
|
Splenomegaly, Microphthalmia |
ORPHA:90324 |
| Myhre Syndrome |
|
Pericardial effusion, Microphthalmia |
OMIM:139210 |
| Fraser Syndrome 1 |
|
Encephalocele, Anophthalmia, Hydrocephalus, Myelomeningocele, Bilateral microphthalmos |
OMIM:219000 |
| Hallermann-Streiff Syndrome |
|
Microphthalmia |
ORPHA:2108 |
| Bartsocas-Papas Syndrome 1 |
|
Microphthalmia |
OMIM:263650 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Patent ductus arteriosus, Pallor |
ORPHA:99125 |
| Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
| Charge Syndrome |
|
Anophthalmia, Polyhydramnios, Unilateral microphthalmos, Umbilical hernia, Holoprosencephaly, Mic... |
OMIM:214800 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Cor pulmonale, Weight loss, Abnormal heart morphology, High palate, Dysphagia, Failure to thrive |
ORPHA:2020 |
| Glycogen Storage Disease Ic |
|
Xanthelasma, Hyperlipidemia, Hyperuricemia, Gout |
OMIM:232240 |
| Aicardi Syndrome |
|
Microphthalmia |
ORPHA:50 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Microphthalmia |
OMIM:609945 |
| Phace Syndrome |
|
Microphthalmia, Lens coloboma, Optic nerve hypoplasia |
ORPHA:42775 |
| Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
| Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Microphthalmia |
OMIM:601552 |
| Monosomy 9P |
|
Microphthalmia |
ORPHA:261112 |
| Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Polyhydramnios, Hydrocephalus, Frontal encephalocele, Stillbirth, Microphthalmia |
OMIM:268300 |
| Microphthalmia, Syndromic 2 |
|
Microphthalmia, Phthisis bulbi, Anophthalmia, Umbilical hernia |
OMIM:300166 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Phthisis bulbi |
OMIM:259770 |
| Reactive Arthritis |
|
Inflammation of the large intestine, Pericarditis, Weight loss |
ORPHA:29207 |
| Woodhouse-Sakati Syndrome |
|
Osteopenia, Hyperlipidemia |
ORPHA:3464 |
| Pallister-Hall Syndrome |
|
Microphthalmia, Umbilical hernia, Holoprosencephaly, Oligohydramnios |
ORPHA:672 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Microphthalmia |
OMIM:603457 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Optic nerve hypoplasia, Bilateral microphthalmos, Spina bifida occulta, Oligohydr... |
ORPHA:508488 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia |
OMIM:616734 |
| Hutchinson-Gilford Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Mitral stenosis, Abnormal mitral valve morph... |
ORPHA:740 |
| Neuroocular Syndrome |
|
Hypoplasia of the fovea, Microphthalmia, Lens coloboma, Umbilical hernia |
OMIM:619539 |
| Witteveen-Kolk Syndrome |
|
Microphthalmia, Polyhydramnios, Branchial fistula |
OMIM:613406 |
| Semilobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Neural tube defect, Hydrocephalus |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Neural tube defect, Hydrocephalus |
ORPHA:93924 |
| Alström Syndrome |
|
Hypertriglyceridemia, Dorsocervical fat pad, Hyperlipidemia, Obesity, Truncal obesity, Hyperostos... |
ORPHA:64 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Microphthalmia |
OMIM:612474 |
| Renpenning Syndrome 1 |
|
Microphthalmia |
OMIM:309500 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Hydrocephalus, Branchial anomaly, Microphthalmia |
OMIM:164210 |
| Branchiooculofacial Syndrome |
|
Microphthalmia, Branchial anomaly, Anophthalmia |
OMIM:113620 |
| Lowe Oculocerebrorenal Syndrome |
|
Microphthalmia |
OMIM:309000 |
| Microphthalmia, Syndromic 6 |
|
Microphthalmia, Anophthalmia |
OMIM:607932 |
| 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 |
| Microphthalmia, Syndromic 1 |
|
Microphthalmia, Anophthalmia |
OMIM:309800 |
