| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Elevated hepatic iron concentra... |
OMIM:206100 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... |
OMIM:205950 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Jaund... |
OMIM:616689 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Hemochromatosis, Type 5 |
|
Anemia, Abnormal circulating copper concentration, Elevated transferrin saturation, Abnormal circ... |
OMIM:615517 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... |
ORPHA:766 |
| Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
| Cyanosis, Transient Neonatal |
|
Anemia, Jaundice, Reticulocytosis, Hepatomegaly, Methemoglobinemia |
OMIM:613977 |
| Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of ina... |
OMIM:237800 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Elevated transferrin saturation, Poikilocytosis, Decreased mean corpuscular volume, Incre... |
OMIM:615234 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Cirrhosis, Jaundice, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatosplenome... |
OMIM:616860 |
| Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder |
OMIM:618830 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maternal diabetes, Maturity-onset diabetes of the young |
OMIM:616329 |
| Maturity-Onset Diabetes Of The Young, Type 4 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:606392 |
| Maturity-Onset Diabetes Of The Young, Type 7 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:610508 |
| Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder |
OMIM:613003 |
| Type 1 Diabetes Mellitus 15 |
|
Diabetes mellitus, Type I diabetes mellitus |
OMIM:601666 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
| Diamond-Blackfan Anemia-Like |
|
Pure red cell aplasia, Steroid-responsive anemia |
OMIM:617911 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Hyperbilirubinemia, Splenomegaly, Reticulocytosis |
OMIM:179700 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anemia, Dysplastic erythropoesis, Reticulocytopenia, Anisopoikilocytosis, Decreased transferrin s... |
ORPHA:300298 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
| Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Anemia, Steroid-responsive anemia |
OMIM:618312 |
| Asplenia, Isolated Congenital |
|
Asplenia, Howell-Jolly bodies, Thrombocytosis |
OMIM:271400 |
| Immunodeficiency 69 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Increased circulating ferritin concentration, Thrombocy... |
OMIM:618963 |
| Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... |
OMIM:615631 |
| Diabetes Mellitus, Transient Neonatal, 2 |
|
Type II diabetes mellitus, Transient neonatal diabetes mellitus |
OMIM:610374 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
| Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
| Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Iron-Refractory Iron Deficiency Anemia |
|
Hypochromic microcytic anemia, Anisocytosis, Elevated circulating hepcidin concentration, Poikilo... |
OMIM:206200 |
| X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Anemia, Abnormality of iron homeostasis, Splenomegaly |
ORPHA:75563 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Increased circulating antibody level, Enlarged kidney, Hepatomegaly, Extramed... |
OMIM:615285 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
| Diamond-Blackfan Anemia 13 |
|
Normocytic anemia, Elevated red cell adenosine deaminase level |
OMIM:615909 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly |
OMIM:224100 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis |
OMIM:301083 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
| Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
| Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg... |
ORPHA:846 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
| Protoporphyria, Erythropoietic, 2 |
|
Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration |
OMIM:618015 |
| Glutamate-Cysteine Ligase Deficiency |
|
Jaundice, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly |
ORPHA:33574 |
| Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
| Hemochromatosis, Type 2B |
|
Anemia, Splenomegaly, Cirrhosis, Hepatic fibrosis, Elevated transferrin saturation, Elevated hepa... |
OMIM:613313 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... |
OMIM:202700 |
| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ... |
ORPHA:232 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
| Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:611783 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617907 |
| Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Jaundice, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:612653 |
| Glycogen Storage Disease Vii |
|
Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hyperuricemi... |
OMIM:232800 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Jaundice, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Sp... |
OMIM:616649 |
| Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
| Familial Pseudohyperkalemia |
|
Stomatocytosis, Hyperkalemia, Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscu... |
ORPHA:90044 |
| Dehydrated Hereditary Stomatocytosis |
|
Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Increased total bilir... |
ORPHA:3202 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Intermittent jaundice, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... |
ORPHA:3203 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Hepatic failure, Increased total iron binding capacity, Hyperbilirubinemia, Jau... |
OMIM:616278 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Jaundice, Hyperbilirubinemia, Reticulocytosis, Hepatomegaly, Sp... |
OMIM:185000 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt... |
ORPHA:75564 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Glut1 Deficiency Syndrome 2 |
|
Reduced haptoglobin level, Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:612126 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
| Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
| Elliptocytosis 2 |
|
Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis |
OMIM:130600 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Jaundice, Hyperbilirubinemia, Reticulocytosis, Cholelithiasis, Splenomegaly, Sp... |
OMIM:182900 |
| Beta-Thalassemia |
|
Anemia, Abnormality of iron homeostasis, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Ch... |
ORPHA:848 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... |
ORPHA:86841 |
| Cryohydrocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... |
OMIM:314050 |
| Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Atransferrinemia |
|
Abnormality of the liver, Atransferrinemia, Hypochromic anemia |
OMIM:209300 |
| Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... |
OMIM:187950 |
| Beta-Thalassemia Intermedia |
|
Cholelithiasis, Cirrhosis, Abnormality of iron homeostasis, Abnormality of the liver, Decreased l... |
ORPHA:231222 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Anemia, Sideroblastic, 1 |
|
Hypochromic microcytic anemia, Anemia of inadequate production, Sideroblastic anemia, Macrocytic ... |
OMIM:300751 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Jaundice, Hyperbilirubinemia, Reticulocytosis, Cholecystitis, Cholelithiasis, ... |
OMIM:235700 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Elevated hepatic transaminase,... |
ORPHA:98870 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyseryth... |
OMIM:224120 |
| Developmental And Epileptic Encephalopathy 50 |
|
Anemia, Anisopoikilocytosis, Schistocytosis, Hyperammonemia, Acanthocytosis |
OMIM:616457 |
| Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
| Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Jaundice, Erythroid hyperplasia, Reti... |
OMIM:266200 |
| Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Neonatal hyperbilirubinemia, Increased circulating ferritin co... |
OMIM:618892 |
| Chromosome 5Q Deletion Syndrome |
|
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia |
OMIM:153550 |
| Immunodeficiency 27A |
|
Anemia, Increased circulating IgG level, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leu... |
OMIM:209950 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Hepatosplenomegaly, Elevated circulating C-reactive protein concentration, Thromboc... |
OMIM:604416 |
| Primary Familial Polycythemia |
|
Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Unconjugated hyperbilirubinemia, Jaundice, Fava bean-induced hemolytic anemia, Reti... |
OMIM:300908 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... |
OMIM:613673 |
| Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Elevated transferrin saturation, Increased circulati... |
OMIM:620121 |
| Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa... |
ORPHA:35858 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume |
OMIM:252270 |
| Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
| Hereditary Elliptocytosis |
|
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Jaundice, Hyperbil... |
ORPHA:288 |
| Intrinsic Factor Deficiency |
|
Reduced haptoglobin level, Megaloblastic anemia, Increased RBC distribution width, Increased mean... |
OMIM:261000 |
| Majeed Syndrome |
|
Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anemia of inadequat... |
OMIM:609628 |
| Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Cirrhosis, Increased total iron binding capacity, Unconjugated hyperbilirubine... |
OMIM:613280 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Hyperhomocystinemia, Lymphopenia, Pancytopenia, Thrombocytosis, Macrocytic ... |
OMIM:617780 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
| Hemochromatosis, Type 3 |
|
Anemia, Cirrhosis, Elevated transferrin saturation, Elevated hepatic transaminase, Lymphopenia, I... |
OMIM:604250 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Abnormal serum iron concentration, Abnormal transferrin saturation, Increased circulating ferriti... |
ORPHA:254704 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Macrocytic anemia, T... |
OMIM:300835 |
| Beta-Thalassemia Major |
|
Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A... |
ORPHA:231214 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Jaund... |
OMIM:194380 |
| Protoporphyria, Erythropoietic, X-Linked |
|
Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration, Elevated hepatic tran... |
OMIM:300752 |
| Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
| Thrombotic Thrombocytopenic Purpura |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Decreased serum creatinine, Reticulocytosis |
ORPHA:54057 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Hypokalemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular vo... |
OMIM:611590 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal lymph node morphology, Abnormality of thrombocytes, Anemia, Hepatosplenomegaly, Leukocyt... |
OMIM:612840 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis |
OMIM:300653 |
| Primary Myelofibrosis |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphadenopathy, Thrombocytosis, Leukoc... |
ORPHA:824 |
| Refractory Anemia |
|
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Bone marrow hypocellularity, Macrocytic ane... |
ORPHA:98826 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:611490 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anemia, Neutropenia, Anisopoikilocytosis |
OMIM:619835 |
| Hemochromatosis, Type 4 |
|
Anemia, Cirrhosis, Elevated transferrin saturation, Hepatic steatosis, Increased circulating ferr... |
OMIM:606069 |
| Megaloblastic Anemia, Folate-Responsive |
|
Hyperbilirubinemia, Hyperhomocystinemia, Episodic hemolytic anemia, Schistocytosis, Increased cir... |
OMIM:601775 |
| Glutathione Peroxidase Deficiency |
|
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies |
OMIM:614164 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis, Poikilocytosis |
OMIM:300367 |
| Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia |
OMIM:242880 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Anemia, Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic iron c... |
OMIM:614946 |
| Elliptocytosis 3 |
|
Intermittent jaundice, Elliptocytosis, Decreased mean corpuscular volume, Chronic hemolytic anemi... |
OMIM:617948 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
| Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A... |
ORPHA:231226 |
| Sitosterolemia 1 |
|
Stomatocytosis, Hypercholesterolemia, Anemia, Reduced haptoglobin level, Reticulocytosis, Impaire... |
OMIM:210250 |
| Rh Deficiency Syndrome |
|
Stomatocytosis, Reduced haptoglobin level, Hemolytic anemia, Jaundice, Hyperbilirubinemia, Reticu... |
ORPHA:71275 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis |
ORPHA:713 |
| Heme Oxygenase 1 Deficiency |
|
Asplenia, Elevated circulating alanine aminotransferase concentration, Hemolytic anemia, Coombs-p... |
OMIM:614034 |
| Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies |
OMIM:140700 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis |
OMIM:619398 |
| Rh-Null, Regulator Type |
|
Stomatocytosis, Jaundice, Hemolytic anemia, Unconjugated hyperbilirubinemia |
OMIM:268150 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
| Porphyria Cutanea Tarda |
|
Abnormal circulating porphyrin concentration, Periportal fibrosis, Decreased circulating hepcidin... |
ORPHA:101330 |
| African Iron Overload |
|
Hepatic fibrosis, Hepatitis, Elevated transferrin saturation, Hepatocellular carcinoma, Hepatic b... |
ORPHA:139507 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly, Spherocytosis |
ORPHA:66518 |
| Gracile Syndrome |
|
Cirrhosis, Decreased transferrin saturation, Hepatic steatosis, Increased circulating ferritin co... |
ORPHA:53693 |
| Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration |
|
Decreased LDL cholesterol concentration, Acanthocytosis |
OMIM:607236 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, B lymphocytopenia, Reduced natural killer cell activity, Neutrop... |
OMIM:619281 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia, Decreased plasma carnitine |
OMIM:611283 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Hypochromic microcytic anemia, Sideroblastic anemia |
OMIM:301310 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Elliptocytosis, Decreased serum iron, Poikilocytosis, Decreased mean corpuscular volume, ... |
OMIM:616959 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell... |
OMIM:212050 |
| Reticuloendotheliosis, X-Linked |
|
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly |
OMIM:312500 |
| Aceruloplasminemia |
|
Hepatic fibrosis, Cirrhosis, Aceruloplasminemia, Decreased circulating ceruloplasmin concentratio... |
ORPHA:48818 |
| Pyropoikilocytosis, Hereditary |
|
Elliptocytosis, Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis |
OMIM:266140 |
| Aceruloplasminemia |
|
Anemia, Decreased serum iron, Aceruloplasminemia, Increased circulating ferritin concentration |
OMIM:604290 |
| Hereditary Spherocytosis |
|
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolyti... |
ORPHA:822 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Dilated cardiomyopathy, Hepatic stea... |
OMIM:618805 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia |
OMIM:166910 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Prolonged neonatal jaundice, Jaundice, Microangiopathic hemolytic anemia, Reticulocytosis, Increa... |
OMIM:274150 |
| Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
| Autosomal Erythropoietic Protoporphyria |
|
Abnormal circulating porphyrin concentration, Cirrhosis, Decreased liver function, Cholelithiasis... |
ORPHA:79278 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev... |
ORPHA:2585 |
| Essential Fructosuria |
|
Hyperglycemia, Abnormal erythrocyte enzyme level |
ORPHA:2056 |
| Erythrocytosis, Familial, 2 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:263400 |
| Copper Deficiency, Familial Benign |
|
Anemia, Decreased circulating copper concentration |
OMIM:121270 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume |
OMIM:620044 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Microcytic anemia |
OMIM:618811 |
| Elliptocytosis 1 |
|
Elliptocytosis, Splenomegaly, Hemolytic anemia, Jaundice |
OMIM:611804 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... |
OMIM:133180 |
| Acatalasemia |
|
Type II diabetes mellitus, Type I diabetes mellitus, Microcytic anemia |
ORPHA:926 |
| Hemochromatosis, Neonatal |
|
Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hepatic failure, Hepatocellular nec... |
OMIM:231100 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
| Diamond-Blackfan Anemia 12 |
|
Elevated red cell adenosine deaminase level, Macrocytic anemia, Reticulocytopenia, Normochromic a... |
OMIM:615550 |
| Familial Benign Copper Deficiency |
|
Anemia, Decreased circulating copper concentration |
ORPHA:1551 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Hypochromic microcytic anemia, Elevated circulating C-reactive protein concentration, Hepatomegaly |
OMIM:619423 |
| Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... |
OMIM:601859 |
| Hemochromatosis Type 2 |
|
Abnormality of endocrine pancreas physiology, Abnormality of iron homeostasis, Elevated transferr... |
ORPHA:79230 |
| Hemochromatosis, Type 2A |
|
Splenomegaly, Cirrhosis, Dilated cardiomyopathy, Increased circulating ferritin concentration, He... |
OMIM:602390 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Lymphadenopathy, Decreased circulating antibody level, Microcytic anemia, Hepatosplenomegaly |
OMIM:619750 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... |
OMIM:235400 |
| Abetalipoproteinemia |
|
Abetalipoproteinemia, Acanthocytosis |
OMIM:200100 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
| Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Lymphadenopathy, Bone-marrow foam cells, Hepatomegaly, Ascites, Prolonged... |
OMIM:257200 |
| Blue Rubber Bleb Nevus |
|
Microcytic anemia |
ORPHA:1059 |
| Eosinophilia, Familial |
|
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia |
OMIM:131400 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Decreased circulating antibody level, Sideroblastic anemia, Hypochromic microc... |
OMIM:616084 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatic steatosis, Microcytic anemia, Hepatosplenomegaly |
OMIM:619013 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Neutropenia, Macrocytic anemia, Reticulocytopenia |
OMIM:612527 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... |
OMIM:300946 |
| Ovalocytosis, Southeast Asian |
|
Elliptocytosis, Hemolytic anemia |
OMIM:166900 |
| Congenital Atransferrinemia |
|
Anemia, Abnormality of the pancreas |
ORPHA:1195 |
| Plummer-Vinson Syndrome |
|
Hypochromic microcytic anemia, Iron deficiency anemia, Decreased circulating ferritin concentration |
ORPHA:54028 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Abcd Syndrome |
|
Polycythemia |
OMIM:600501 |
| Alpha-Heavy Chain Disease |
|
Anemia, Lymphadenopathy, Hepatomegaly, Dysgammaglobulinemia, Ascites, Hypocalcemia, Splenomegaly |
ORPHA:100025 |
| Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Increased circulating IgE level, Hypochromic microcytic anemia, Incre... |
OMIM:619632 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia |
OMIM:243320 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Anemia, Hypoproteinemia, Thrombocytosis, Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia |
OMIM:226300 |
| Refractory Celiac Disease |
|
Normocytic anemia, Hypophosphatemia, Elevated hepatic transaminase, Abnormal spleen physiology, I... |
ORPHA:398063 |
| Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia |
OMIM:615593 |
| Iron Overload In Africa |
|
Elevated transferrin saturation |
OMIM:601195 |
| Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron, Cho... |
OMIM:603358 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... |
ORPHA:444463 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
| Nephronophthisis |
|
Anemia |
ORPHA:655 |
| Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Microcytic anemia, Hypochromic anemia |
OMIM:618451 |
| Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
| Neonatal Hemochromatosis |
|
Prolonged neonatal jaundice, Increased circulating ferritin concentration, Increased serum iron, ... |
ORPHA:446 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Elevated circulating alanine aminotransferase concentration, Decreased LDL cholesterol concentrat... |
OMIM:615558 |
| Breath-Holding Spells |
|
Iron deficiency anemia |
OMIM:607578 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
| Dilated Cardiomyopathy With Ataxia |
|
Normochromic microcytic anemia, Microvesicular hepatic steatosis, Elevated hepatic transaminase, ... |
ORPHA:66634 |
| Majeed Syndrome |
|
Hypochromic microcytic anemia, Leukocytosis, Hepatomegaly, Splenomegaly, Congenital hypoplastic a... |
ORPHA:77297 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Pancytopenia, Cutaneous anergy, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Hepatic failure, Hyperbilirubinemia, Hypocalcemia, Pancytopenia, Hepatosplenomegaly, Hypo... |
OMIM:259720 |
| Interstitial Lung And Liver Disease |
|
Anemia, Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis,... |
OMIM:615486 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis, Thrombocytopenia |
OMIM:259710 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia |
OMIM:608898 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Erythroid hyperplasia, Hypochromic anemia, Microcytic ... |
OMIM:600462 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Anisopoikilocytosis, Anemia |
OMIM:615789 |
| Ménétrier Disease |
|
Hypochromic microcytic anemia, Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
| Immunodeficiency 92 |
|
B lymphocytopenia, Lymphocytosis, Sclerosing cholangitis, Cholangitis, Decreased proportion of cl... |
OMIM:619652 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a... |
OMIM:159550 |
| Orotic Aciduria |
|
Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Folate-unresponsive meg... |
OMIM:258900 |
| Isolated Sedoheptulokinase Deficiency |
|
Anemia, Hepatitis, Hypochromic microcytic anemia, Cholestasis, Cholestatic liver disease, Portal ... |
ORPHA:440713 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Lathosterolosis |
|
Hepatic failure, Anisopoikilocytosis, Intrahepatic cholestasis, Abnormal platelet morphology, Hep... |
ORPHA:46059 |
| Wolfram Syndrome, Mitochondrial Form |
|
Megaloblastic anemia, Sideroblastic anemia, Diabetes mellitus, Thrombocytopenia, Neutropenia |
OMIM:598500 |
| Mitochondrial Dna Depletion Syndrome 19 |
|
Microcytic anemia |
OMIM:618972 |
| Glutamate Formiminotransferase Deficiency |
|
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei |
OMIM:229100 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia |
OMIM:141000 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
| Diamond-Blackfan Anemia 5 |
|
Erythroid hypoplasia, Leukopenia, Macrocytic anemia, Reticulocytopenia |
OMIM:612528 |
| Pulmonary Hemosiderosis |
|
Iron deficiency anemia |
OMIM:178550 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Hypertriglyceridemia, Jaundice, Lymphadenopathy, Increased circulating ferritin concentra... |
OMIM:603552 |
| Lathosterolosis |
|
Bilobate gallbladder, Abnormal circulating cholesterol concentration, Anisopoikilocytosis, Hyperb... |
OMIM:607330 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Microvesicular hepatic steatosis, Hemolytic anemia, Unconjugated hyperbi... |
OMIM:618278 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Hypochromic microcytic anemia, Anemia, Hyperalaninemia, Increased serum pyruvate |
OMIM:619147 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Increased total iron binding capacity, Abnormality of the liver, Hyperglycinemia, Jaundice, Abnor... |
ORPHA:309854 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Thrombocytopenia, Increased circulating ferritin concentration |
ORPHA:3240 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia |
ORPHA:228312 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Patent ductus arteriosus, Thrombocytopenia, Sideroblastic anemia |
OMIM:617021 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Increased LDL cholesterol concentration, Decreased HDL cholestero... |
OMIM:607616 |
| Malaria |
|
Elevated circulating C-reactive protein concentration, Anemia, Thrombocytopenia, Hyperbilirubinemia |
ORPHA:673 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hepatomegaly |
ORPHA:163596 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Thrombocytopenia, Macrothrombocytopenia |
OMIM:616176 |
| Dermatitis Herpetiformis |
|
Microcytic anemia |
ORPHA:1656 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Abnormal natural killer cell physiology, Decreased circulating antibody level, Hepatosple... |
OMIM:613101 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem... |
OMIM:153670 |
| Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Anemia, Thrombocytopenia |
OMIM:615715 |
| Formiminoglutamic Aciduria |
|
Abnormal circulating histidine concentration, Anemia, Megaloblastic anemia, Atrial septal defect |
ORPHA:51208 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Decreased circulating antibody level, Coombs-positiv... |
OMIM:617514 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Leukopenia, Anemia, Lymphopenia, Follicular hyperplasia, Thrombocytosis, Increased circulating Ig... |
OMIM:615934 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Increased B cell count, Coombs-positive hemolytic anemia, ... |
OMIM:603909 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Jaundice, Hepatomegaly, Exocrine pancreatic insufficiency, Anemia of inadequate production, Splen... |
OMIM:612714 |
| Klippel-Trénaunay Syndrome |
|
Patent ductus arteriosus, Ascites, Microcytic anemia, Hepatomegaly |
ORPHA:90308 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocyto... |
OMIM:187800 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
| Mu-Heavy Chain Disease |
|
Anemia, Increased circulating antibody level, Abnormal B cell count, Lymphadenopathy, Hepatomegal... |
ORPHA:100024 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Normochromic anemia |
OMIM:245900 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal reticulocyte morphology |
ORPHA:2522 |
| Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
| Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Decreased circulating ceruloplasmin concentration, Increased circulating copper concen... |
ORPHA:209919 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
| Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
| Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Increased circulating antibody level, Lymphocytosis, Pancytopenia... |
OMIM:614470 |
| Chylomicron Retention Disease |
|
Hypertriglyceridemia, Elevated hepatic transaminase, Hepatic steatosis, Hypocholesterolemia, Incr... |
ORPHA:71 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Jaundice, Pancytopenia, Hepatomegaly, Increased mean corpuscular volume, Th... |
OMIM:613839 |
| Sickle Cell Disease |
|
Cholelithiasis, Splenomegaly, Hemolytic anemia, Target cells, Splenic infarction, Jaundice, Leuko... |
OMIM:603903 |
| Hepatocellular Carcinoma |
|
Anemia, Abnormality of the liver, Liver abscess, Hepatic necrosis, Jaundice, Hypokalemia, Elevate... |
ORPHA:88673 |
| Barth Syndrome |
|
Dilated cardiomyopathy, Hypochromic microcytic anemia, Hypertrophic cardiomyopathy, Cyclic neutro... |
OMIM:302060 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia |
ORPHA:517 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly |
OMIM:273680 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Splenomegaly, Hepatomegaly |
OMIM:619175 |
| Imerslund-Grasbeck Syndrome 2 |
|
Megaloblastic anemia |
OMIM:618882 |
| Sea-Blue Histiocyte Disease |
|
Elevated circulating alanine aminotransferase concentration, Sea-blue histiocytosis, Cirrhosis, E... |
OMIM:269600 |
| Thrombocytopenia 7 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619130 |
| Srd5A3-Cdg |
|
Microcytic anemia |
ORPHA:324737 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Unconjugated hyperbilirubinemia, Microangiopathic hemolytic anemia, Hypokalemia, Peritonitis, Ret... |
ORPHA:90038 |
| Hemochromatosis, Type 1 |
|
Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Increased circu... |
OMIM:235200 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:610539 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Amegakaryocytic thrombocytopenia, Thrombocytopenia, Pancytopenia |
OMIM:604498 |
| Vascular Malformation, Primary Intraosseous |
|
Hypochromic anemia |
OMIM:606893 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Microcytic anemia |
OMIM:612379 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
| Wt Limb-Blood Syndrome |
|
Thrombocytopenia, Leukemia, Pancytopenia, Hypoplastic anemia |
OMIM:194350 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Increased muscle glycogen content, Anemia, Hyperuricemia |
ORPHA:371 |
| Fumarase Deficiency |
|
Hepatic failure, Hyperbilirubinemia, Polycythemia, Cholestasis |
OMIM:606812 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Decreased circulating total IgM, Splenomegaly, Hepatomegaly |
OMIM:606445 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
| Acute Erythroid Leukemia |
|
Leukopenia, Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity |
ORPHA:318 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Cirrhosis, Abnormality of iron homeostasis, Elevated transferrin saturation, Hepatocellular carci... |
ORPHA:465508 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Acanthocytosis |
OMIM:604777 |
| 3-Methylglutaconic Aciduria, Type V |
|
Elevated circulating alanine aminotransferase concentration, Normochromic microcytic anemia, Micr... |
OMIM:610198 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgG level, Autoimmune... |
OMIM:619220 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Jaundice, Elevated... |
OMIM:619658 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Neonatal hypoglycemia, Splenomegaly, Macrocytic anemia |
OMIM:619046 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Hepatosplenomegaly, Anemia, Extramedullary hematopoiesis |
OMIM:259730 |
| Congenital Toxoplasmosis |
|
Anemia, Ascites, Jaundice, Elevated hepatic transaminase, Lymphadenopathy, Hepatomegaly, Cardiome... |
ORPHA:858 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly |
OMIM:615010 |
| Mcleod Syndrome |
|
Reduced haptoglobin level, Elevated circulating alanine aminotransferase concentration, Dilated c... |
OMIM:300842 |
| Choreoacanthocytosis |
|
Acanthocytosis, Elevated circulating creatine kinase concentration |
OMIM:200150 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Elevated circulating alanine aminotransferase concentration, Hyperbilirubinemia, Jaundice, Elevat... |
OMIM:620010 |
| Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia |
ORPHA:295 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hypoplasia of the thymus, Decreased circulating antibody level, Interface hepatitis, Lymphopenia,... |
OMIM:243150 |
| Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Abnormality of the liver, Exocrine pancreatic insufficiency, Lymph... |
ORPHA:1667 |
| Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceri... |
OMIM:614480 |
| Kasabach-Merritt Syndrome |
|
Leukopenia, Anemia, Microangiopathic hemolytic anemia, Reticulocytosis, Hepatic hemangioma, Throm... |
ORPHA:2330 |
| Poems Syndrome |
|
Increased circulating antibody level, Polycythemia, Diabetes mellitus, Lymphadenopathy, Thrombocy... |
ORPHA:2905 |
| Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly |
ORPHA:721 |
| Immunodeficiency 47 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Thrombocyto... |
OMIM:300972 |
| Diamond-Blackfan Anemia 11 |
|
Anemia, Anemia of inadequate production, Neutropenia, Bone marrow hypocellularity |
OMIM:614900 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Jaundice,... |
OMIM:619868 |
| Somatostatinoma |
|
Intermittent jaundice, Extrahepatic cholestasis, Neoplasm of the pancreas, Abnormal abdomen morph... |
ORPHA:97283 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly |
OMIM:615085 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Anemia, Decreased circulating antibody level, Type I diabetes mellitus, Lymphopenia, ... |
OMIM:615688 |
| Infantile Liver Failure Syndrome 1 |
|
Hepatic steatosis, Anemia, Macrocytic anemia, Hepatomegaly |
OMIM:615438 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia |
OMIM:618858 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Thrombocytopenia, Neutropenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
| Familial Thrombocytosis |
|
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis |
ORPHA:71493 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukopenia, Anemia, Hyperuricemia, Jaundice, Elevated hepatic transaminase, Acute pancreatitis, H... |
ORPHA:20 |
| Livedoid Vasculopathy |
|
Anemia, Abnormal circulating lipid concentration, Hyperhomocystinemia, Polycythemia, Pancytopenia... |
ORPHA:542643 |
| Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy, Dysgammaglobulinemia |
ORPHA:158014 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Endocardial fibrosis, Eosinophilia, Myeloproliferative disorder, Hepa... |
OMIM:607685 |
| Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
| 6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Anemia, Elevated circulating creatine kinase concentration |
OMIM:618838 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Defective T cell proliferation, Decreased proportion of CD4-positive T cells, Autoimmune thromboc... |
OMIM:618534 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Anemia, Macrocytic anemia, Hepatomegaly, Thrombocytopenia, Pancreatitis |
ORPHA:27 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Thrombocytopenia, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia |
OMIM:249270 |
| Imerslund-Grasbeck Syndrome 1 |
|
Megaloblastic anemia |
OMIM:261100 |
| Hydrops Fetalis, Nonimmune |
|
Anemia |
OMIM:236750 |
| Liver Disease, Severe Congenital |
|
Subvalvular aortic stenosis, Elevated hepatic transaminase, Portal inflammation, Elevated circula... |
OMIM:619991 |
| Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Thrombocytosis, Macrocytic anemia, Iron deficiency anemia, Hypocal... |
OMIM:212750 |
| Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
| Diamond-Blackfan Anemia 20 |
|
Anemia, Erythroid hypoplasia |
OMIM:618313 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
| Idiopathic Aplastic Anemia |
|
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia |
ORPHA:88 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Stomatocytosis, Hemolytic anemia, Jaundice, Hyperkalemia, Hepatomegaly, Splenomegaly, Conjugated ... |
OMIM:608885 |
| Autoerythrocyte Sensitization Syndrome |
|
Abnormal erythrocyte morphology, Impaired platelet adhesion, Thrombocytosis, Autoimmune thrombocy... |
ORPHA:324636 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Abnormality of thrombocytes, Asplenia, Anemia |
ORPHA:3204 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat... |
OMIM:620135 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Leukopenia, Anemia, Hemolytic anemia, Unconjugated hyperbilirubinemia,... |
ORPHA:447 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c |
OMIM:610582 |
| Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Decreased circulating antibody level, Pericardial effusion, Pancytopenia, Aut... |
OMIM:613011 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
| Acute Monoblastic/Monocytic Leukemia |
|
Anemia, Lymphocytosis, Cervical lymphadenopathy, Acute monocytic leukemia, Leukocytosis, Hypochro... |
ORPHA:514 |
| Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal mean corpuscular volume, Bone marrow hypocellularity, Leukocytos... |
ORPHA:86839 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Megaloblastic anemia, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, Increased m... |
OMIM:277410 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Sideroblastic anemia, Hepatomegaly |
OMIM:613561 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Decreased circulating IgG2 level... |
OMIM:615513 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c, Hyperglycemia |
OMIM:606176 |
| Schnitzler Syndrome |
|
Anemia, Lymphadenopathy, Leukocytosis, Hepatomegaly, Increased circulating IgM level, Splenomegaly |
ORPHA:37748 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,... |
OMIM:619824 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Decreased T cell activation, Defective T cell proliferation, Increased circulating IgG level, Thr... |
OMIM:618213 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Reduced natural killer cell count, Lymphocytosis, Thrombocytosis, Decreased proportion of memory ... |
OMIM:301074 |
| Trichohepatoenteric Syndrome 1 |
|
Hypermethioninemia, Splenomegaly, Hepatic fibrosis, Abnormality of iron homeostasis, Increased se... |
OMIM:222470 |
| Cogan Syndrome |
|
Anemia, Thrombocytosis, Leukocytosis |
ORPHA:1467 |
| Progressive Familial Intrahepatic Cholestasis |
|
Jaundice, Cholestasis, Hepatomegaly, Hypocalcemia, Splenomegaly |
ORPHA:172 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Neutropenia, Microcytic anemia, Hepatomegaly |
OMIM:251900 |
| Syndromic Diarrhea |
|
Splenomegaly, Hepatic fibrosis, Hypoplasia of the thymus, Panhypogammaglobulinemia, Ventricular s... |
ORPHA:84064 |
| Idiopathic Pulmonary Hemosiderosis |
|
Iron deficiency anemia, Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
ORPHA:99931 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Exocrine pancreatic insufficiency, Elevated hemoglobin A1c, Hyperglycemia, Maturity-onset diabete... |
OMIM:609812 |
| Beta-Ketothiolase Deficiency |
|
Hypoglycemia, Thrombocytosis, Leukocytosis, Hepatomegaly, Hyperglycemia |
ORPHA:134 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Cirrhosis, Hepatic failure, Cholestatic liver disease, Decreased circulating ceruloplasmin concen... |
OMIM:616828 |
| Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Jaundice, Hepatic steatosis, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Ch... |
ORPHA:79303 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Insulin-resistant diabetes mellitus, Microcytic anemia |
ORPHA:293967 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617243 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Reduced alpha/beta synthesis ratio, Perimembranous ventricular septal ... |
OMIM:301040 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Normocytic anemia, Megaloblastic anemia |
OMIM:236270 |
| Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... |
ORPHA:124 |
| Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
| Leishmaniasis |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Increased circulating antibody level, Elevate... |
ORPHA:507 |
| Abetalipoproteinemia |
|
Anemia, Hepatic fibrosis, Cirrhosis, Decreased LDL cholesterol concentration, Hyperbilirubinemia,... |
ORPHA:14 |
| Immunodeficiency 32B |
|
Abnormal circulating IgG level, Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Hepatomegaly, ... |
OMIM:226990 |
| H Syndrome |
|
Enlarged kidney, Hepatosplenomegaly, Diabetes mellitus, Lymphadenopathy, Histiocytosis, Microcyti... |
ORPHA:168569 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Megaloblastic anemia |
OMIM:250940 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD4:CD8 ratio, Decreased T cell activation, Decreased proportion of CD4-positive T cell... |
OMIM:300853 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... |
OMIM:619375 |
| Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Anemia, Increased circulating ferritin concentration, Leukocytosis, Cardiomegaly, ... |
OMIM:618886 |
| Immunodeficiency 96 |
|
Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Defective T cell pr... |
OMIM:619774 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
T lymphocytopenia, Neoplasm of the pancreas, Hepatic steatosis, Insulin-resistant diabetes mellit... |
ORPHA:2959 |
| Lesch-Nyhan Syndrome |
|
Anemia, Hyperuricemia |
ORPHA:510 |
| Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Neoplasm of the pancreas, Hepatic hemangioma, Polycythemia |
OMIM:193300 |
| Immunodeficiency 104 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly |
OMIM:608971 |
| Transcobalamin Ii Deficiency |
|
Decreased circulating total IgM, Reticulocytopenia, Pancytopenia, Erythroid hypoplasia, Decreased... |
OMIM:275350 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:615193 |
| Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Hyperammonemia, Ascites, Splen... |
OMIM:271500 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Hypertrigly... |
OMIM:618398 |
| Pearson Syndrome |
|
Elevated hepatic transaminase, Reticulocytosis, Hepatic steatosis, Bone marrow hypocellularity, H... |
ORPHA:699 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Anemia, Splenomegaly, Hepatomegaly |
OMIM:618107 |
| Monosomy 22 |
|
Hypochromic microcytic anemia, Aplasia of the thymus, Hepatosplenomegaly |
ORPHA:96123 |
| Galactosemia Iii |
|
Jaundice, Hypergalactosemia, Splenomegaly, Hepatomegaly |
OMIM:230350 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Elevated circulating alanine aminotransferase concentration, Absent isohe... |
OMIM:615559 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Decreased circulating antibody level, Hepatitis, Pancytopenia, Increased circulating ferritin con... |
OMIM:300635 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Anemia, Hypercalcemia |
ORPHA:2668 |
| Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hyperuricemia, Elevated hepatic transaminase, Hypocalcemia, Hyperkalemia, Elev... |
ORPHA:94093 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619271 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Hypersegmentation of neutrophil nuclei, Macrocytic anemia |
OMIM:615578 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatic failure, Reduced natural killer cell activity, Decreased circulating antibody level, Fulm... |
OMIM:308240 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Elevated hemoglobin A1c |
OMIM:616511 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Anemia, Thrombocytopenia, Pancytopenia |
OMIM:616435 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hypertri... |
OMIM:612526 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatosplenomegaly, Hepatic steatosis, Bone-marrow foam cells, Hepatomegaly, Hypercholesterolemia... |
OMIM:278000 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Decreased serum thromboxane B2, Impaired platelet aggregation, Iron deficiency anemia, Abnormal c... |
OMIM:618372 |
| Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Nodular regenerative hyperplasia of liver, Abnormal liver parenchyma morpholo... |
ORPHA:64743 |
| Jervell And Lange-Nielsen Syndrome |
|
Iron deficiency anemia |
ORPHA:90647 |
| Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Panhypogammaglobulinemia, Splenomegaly, Hepatomegaly |
OMIM:269840 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hypertriglyceridemia, Hepatic ... |
ORPHA:158057 |
| Attrv122I Amyloidosis |
|
Anemia, Restrictive cardiomyopathy, Left ventricular hypertrophy, Increased circulating NT-proBNP... |
ORPHA:85451 |
| Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hyperlipi... |
OMIM:214900 |
| Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Anemia, Reduced natural killer cell activity, Pancytopenia, In... |
OMIM:616050 |
| Methylcobalamin Deficiency Type Cble |
|
Abnormality of the liver, Hyperhomocystinemia, Hypomethioninemia, Pancytopenia, Macrocytic anemia... |
ORPHA:2169 |
| Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
| Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Reduced haptoglobin level, Jaundice, Macrocytic anemia, Anemia of inadequate production, Congenit... |
OMIM:105600 |
| Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly |
ORPHA:882 |
| Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Bone marrow hypocell... |
ORPHA:3261 |
| Congenital Disorder Of Glycosylation, Type Ii |
|
Iron deficiency anemia, Hepatomegaly |
OMIM:607906 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbiliru... |
OMIM:269920 |
| Mednik Syndrome |
|
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... |
ORPHA:171851 |
| Combined Saposin Deficiency |
|
Abnormal glycosphingolipid metabolism, Splenomegaly, Hepatomegaly |
OMIM:611721 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Pancreatitis, Hyperammonemia, Hepatomegaly, Thrombocytopenia, Neutropenia, Splenomegaly, ... |
ORPHA:79312 |
| Glycogen Storage Disease Ixb |
|
Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Increased muscle glycogen conten... |
OMIM:261750 |
| Neurodevelopmental Disorder With Poor Growth, Spastic Tetraplegia, And Hearing Loss |
|
Macrocytic anemia |
OMIM:620071 |
| Developmental And Epileptic Encephalopathy 43 |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Ascites, Anemia, Splenomegaly |
ORPHA:1046 |
| Congenital Erythropoietic Porphyria |
|
Reduced haptoglobin level, Leukopenia, Abnormal circulating porphyrin concentration, Hemolytic an... |
ORPHA:79277 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Cholecystitis, Impaired neutrophil bacter... |
OMIM:613470 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Decreased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Abno... |
ORPHA:96180 |
| Wiskott-Aldrich Syndrome |
|
Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal platelet function, Abnormal eosinoph... |
ORPHA:906 |
| Orthostatic Hypotension 2 |
|
Anemia, Hypoglycemia |
OMIM:618182 |
| Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Abnormal erythrocyte morphology, Folate-unresponsive megaloblastic anemia, Megaloblastic anemia |
ORPHA:2575 |
| Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Anemia, Elevated circulating alanine aminotransferase concentration, N... |
OMIM:611881 |
| Eisenmenger Syndrome |
|
Atrioventricular canal defect, Bacterial endocarditis, Hyperuricemia, Aortopulmonary window, Vent... |
ORPHA:97214 |
| Idiopathic Hypereosinophilic Syndrome |
|
Anemia, Neutrophilia, Pancreatitis, Generalized lymphadenopathy, Portal fibrosis, Hepatosplenomeg... |
ORPHA:3260 |
| Pancreatic Colipase Deficiency |
|
Exocrine pancreatic insufficiency, Megaloblastic anemia, Cholelithiasis |
ORPHA:309108 |
| Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Elevated circulating alanine am... |
ORPHA:158061 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Increased ci... |
OMIM:618495 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Type I diabetes mellitus, Autoimmune hemolytic anemia, Lymphadenopathy, Hemoph... |
OMIM:301078 |
| Mast Cell Sarcoma |
|
Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Thrombocytosis, Hepatomegaly,... |
OMIM:212065 |
| Congenital Rubella Syndrome |
|
Patent ductus arteriosus, Anemia, Jaundice, Type I diabetes mellitus, Hepatomegaly, Thrombocytope... |
ORPHA:290 |
| Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Thrombocytopenia, Abnormality of the liver |
OMIM:112200 |
| Wolfram Syndrome 1 |
|
Diabetes mellitus, Thrombocytopenia, Sideroblastic anemia, Megaloblastic anemia |
OMIM:222300 |
| Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly |
OMIM:619164 |
| Amme Complex |
|
Elliptocytosis |
OMIM:300194 |
| Pyridoxal Phosphate-Responsive Seizures |
|
Pyridoxine-responsive sideroblastic anemia, Hypoglycemia |
ORPHA:79096 |
| Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... |
ORPHA:101096 |
| Sandhoff Disease |
|
Abnormal glycosphingolipid metabolism, Splenomegaly, Hepatomegaly |
ORPHA:796 |
| Cold Agglutinin Disease |
|
Splenomegaly, Lymphadenopathy, Hemolytic anemia, Hepatomegaly |
ORPHA:56425 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... |
ORPHA:98849 |
| Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Splenomegaly, Hepatomegaly |
OMIM:619462 |
| Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Agitation |
OMIM:619970 |
| Brucellosis |
|
Leukopenia, Anemia, Abnormality of the liver, Liver abscess, Hypersplenism, Lymphadenopathy, Thro... |
ORPHA:1304 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Stomatocytosis, Spontaneous hemolytic crises, Jaundice, Hepatosplenomegaly, Conjugated hyperbilir... |
ORPHA:168577 |
| Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Decreased circulating total IgM, Decreased T cell activation, Complete o... |
OMIM:607271 |
| Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Reduced serum alpha-1-antitrypsin, Elevated hepatic transaminase, Hepatocellular carci... |
OMIM:613490 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Anemia, Abnormal isohemagglutinin level, Neutrophilia, Leukocytosis, Hepatomegaly, Microcytic anemia |
ORPHA:99843 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Extramedullary hematopoiesis, Hepatosplenomegaly |
ORPHA:313855 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... |
OMIM:608203 |
| Cholesteryl Ester Storage Disease |
|
Cirrhosis, Hepatic failure, Jaundice, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, S... |
ORPHA:75234 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Anemia, Cirrhosis, Hepatic necrosis, Lymphopenia, Increased mean corpuscular volume, ... |
OMIM:127550 |
| Congenital Disorder Of Glycosylation, Type Iiq |
|
Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Decreased circu... |
OMIM:617395 |
| 8P11.2 Deletion Syndrome |
|
Patent ductus arteriosus, Hemolytic anemia, Splenomegaly, Spherocytosis |
ORPHA:251066 |
| Triosephosphate Isomerase Deficiency |
|
Hemolytic anemia, Normocytic anemia, Jaundice, Chronic hemolytic anemia, Cholecystitis, Macrocyti... |
OMIM:615512 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Jaundice... |
OMIM:267700 |
| Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
| Gamma-Heavy Chain Disease |
|
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, ... |
ORPHA:100026 |
| Cog2-Cdg |
|
Decreased liver function, Decreased circulating ceruloplasmin concentration, Decreased circulatin... |
ORPHA:435934 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| Galactose Epimerase Deficiency |
|
Jaundice, Splenomegaly, Hepatomegaly |
ORPHA:79238 |
| Diamond-Blackfan Anemia 1 |
|
Reticulocytopenia, Thrombocytosis, Thrombocytopenia, Neutropenia, Elevated red cell adenosine dea... |
OMIM:105650 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Patent ductus arteriosus, Thrombocytopenia, Neutropenia, Normochromic anemia |
OMIM:614857 |
| Dohle Bodies And Leukemia |
|
Leukocyte inclusion bodies, Acute myeloid leukemia, Anemia |
OMIM:223350 |
| Mody |
|
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis... |
ORPHA:552 |
| Trichohepatoenteric Syndrome 2 |
|
Cirrhosis, Decreased serum iron, Hepatomegaly, Chronic hepatitis |
OMIM:614602 |
| Hamamy Syndrome |
|
Microcytic anemia, Hypochromic anemia |
OMIM:611174 |
| Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hepatocellular carcinoma, Hepatic steatosis, H... |
OMIM:277900 |
| Babesiosis |
|
Leukopenia, Hepatic failure, Hemolytic anemia, Jaundice, Hepatomegaly, Thrombocytopenia, Splenome... |
ORPHA:108 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Anemia, Prolonged neonatal jaundice, Increased hepatic echogenicity, Type I diabetes mellitus, He... |
OMIM:619525 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Impulsivity, Hyperactivity, Agitation |
OMIM:309548 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neonatal cholestat... |
ORPHA:79301 |
| Wolman Disease |
|
Anemia, Bone-marrow foam cells, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:75233 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Hepatitis, Neutropenia in presence of anti-neutropil antibodies, Elev... |
ORPHA:37042 |
| Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Eosinophilia, Thrombocy... |
ORPHA:90045 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly |
ORPHA:417 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612926 |
| Hereditary Hemorrhagic Telangiectasia |
|
Cirrhosis, Cholecystitis, Portal hypertension, Cholelithiasis, Microcytic anemia |
ORPHA:774 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Iron deficiency anemia, Decreased HDL cholesterol concentration, Decreased serum creatinine, Hypo... |
OMIM:618885 |
| Irida Syndrome |
|
Intrahepatic cholestasis, Decreased circulating copper concentration |
ORPHA:209981 |
| Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Pancytopenia, Hepatosplenomegaly, Hepatomegaly, Thrombocytopenia, ... |
OMIM:610333 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612924 |
| Familial Renal Glucosuria |
|
Glycosuria, Insulin resistance, Elevated hemoglobin A1c, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
| Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Abnormal circulating creatine kinase concentration, Abnormal circulating copper concentration, Ca... |
ORPHA:521411 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased circulating total IgM, B lymphocytopenia, Neutropenia in presence of anti-neutropil ant... |
OMIM:607594 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Thymoma, Asplenia, Cirrhosis, Hepatitis, Exocrine pancreatic insufficiency, Chronic hepatitis, Ir... |
OMIM:269200 |
| Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Splenomegaly |
ORPHA:158029 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Sclerosing cholangitis, Hepatomegaly, Absence of lymph node germinal center, Thrombocytopenia, Im... |
OMIM:308230 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Elevated hepatic transaminase, Hepatomegaly, Hypercholesterolemia, Hypertriglyceri... |
OMIM:306000 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Elevated hemoglobin A1c |
OMIM:619278 |
| Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, H... |
OMIM:603554 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Reduced natural killer cell activity, Jaundice, El... |
OMIM:603553 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Portal hypertension, Elevated hepatic transaminase, Splenomegaly, Hepatomegaly |
OMIM:617068 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Anemia, Decreased plasma carnitine, Decreased serum iron, Abnormal circulating selenium concentra... |
ORPHA:89842 |
| Congenital Cataracts, Hearing Loss, And Neurodegeneration |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
OMIM:614482 |
| Mevalonic Aciduria |
|
Anemia, Increased circulating IgD level, Hepatosplenomegaly, Normocytic hypoplastic anemia, Lymph... |
OMIM:610377 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... |
OMIM:150550 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Elevated hepatic transaminas... |
OMIM:619463 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Elevated circulating C-reactive protein concentration, Lymphadenopathy, Splenomegaly, Leukocytosis |
OMIM:611762 |
| Autoimmune Hemolytic Anemia |
|
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia |
ORPHA:98375 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Hepatosplenomegaly, Eosinophilia,... |
OMIM:619802 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Dilated cardiomyopathy, Elevated circulating creatine kinase conce... |
OMIM:600649 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Portal inflammation, Portal fibrosis, Intrahe... |
OMIM:602347 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:86893 |
| Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Neutropenia, Splen... |
OMIM:615387 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Hypoalbuminemia |
ORPHA:88643 |
| Neonatal Lupus Erythematosus |
|
Anemia, Hepatic failure, Abnormality of the liver, Neutropenia, Hemolytic anemia, Elevated hepati... |
ORPHA:398124 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr... |
OMIM:612925 |
| Acquired Von Willebrand Syndrome |
|
Normocytic anemia, Refractory anemia, Hypochromic anemia, Aortic valve stenosis, Pulmonic stenosis |
ORPHA:99147 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Elevated hepatic transaminase, Elevated circulating creatine kinase... |
OMIM:617713 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly |
OMIM:610293 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Impaired glucose tolerance, Increased circulating antibody level, Lymphadenopathy, Increased circ... |
OMIM:256040 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Elliptocytosis |
ORPHA:86818 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Cirrhosis, Microvesicular hepatic steatosis, Atrial septal defect, Hepatomegaly, Elevated hepatic... |
OMIM:300868 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Thrombocytopenia, Refractory anemia |
OMIM:231095 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90037 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
| Carnitine Deficiency, Systemic Primary |
|
Endocardial fibroelastosis, Elevated circulating alanine aminotransferase concentration, Microves... |
OMIM:212140 |
| Glycine Encephalopathy |
|
Impulsivity, Hyperactivity, Restlessness |
OMIM:605899 |
| Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... |
ORPHA:1414 |
| Diamond-Blackfan Anemia 10 |
|
Patent ductus arteriosus, Anemia, Steroid-responsive anemia, Reticulocytopenia, Macrocytic anemia |
OMIM:613309 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Autoimmune th... |
OMIM:616100 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Granulocytopenia, Macrocytic anemia |
OMIM:606164 |
| Essential Thrombocythemia |
|
Abnormality of thrombocytes, Abnormal platelet morphology, Splenomegaly, Acute leukemia |
ORPHA:3318 |
| Griscelli Syndrome Type 2 |
|
Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Hyperlipidemia, Neutrope... |
ORPHA:79477 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Decreased serum iron, Abnormal heart morphology |
ORPHA:391372 |
| Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly |
OMIM:616622 |
| Neuraminidase Deficiency |
|
Bone-marrow foam cells, Hepatomegaly, Cardiomegaly, Ascites, Vacuolated lymphocytes, Splenomegaly... |
OMIM:256550 |
| Diamond-Blackfan Anemia 7 |
|
Patent ductus arteriosus, Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612562 |
| Wilson Disease |
|
Anemia, Cirrhosis, Hepatitis, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Acute h... |
ORPHA:905 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Leukopenia, Anemia, Sideroblastic anemia |
OMIM:255125 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Elevated hepatic transaminase, Pancytopenia, Persistence of hemog... |
OMIM:260400 |
| Gaucher Disease, Type Iii |
|
Thrombocytopenia, Splenomegaly, Pancytopenia, Hepatomegaly |
OMIM:231000 |
| Pearson Marrow-Pancreas Syndrome |
|
Anemia, Reticulocytopenia, Refractory sideroblastic anemia, Sideroblastic anemia, Type I diabetes... |
OMIM:557000 |
| Vexas Syndrome |
|
Thrombocytopenia, Macrocytic anemia |
OMIM:301054 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Patent ductus arteriosus, Increased size of nasopharyngeal adenoids, Persistence of hemoglobin F |
OMIM:619769 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
OMIM:618620 |
| Ornithine Transcarbamylase Deficiency |
|
Hepatic failure, Hyperammonemia, Splenomegaly |
ORPHA:664 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin, Prolonged neonatal jaundice, Elevated amniotic fluid alpha-fetoprotein |
ORPHA:423479 |
| Transaldolase Deficiency |
|
Patent foramen ovale, Anemia, Hepatic fibrosis, Cirrhosis, Ventricular septal defect, Pancytopeni... |
OMIM:606003 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic failure, Hepatic fibrosis, Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly |
OMIM:616719 |
| Griscelli Syndrome |
|
Leukopenia, Abnormal circulating lipid concentration, Decreased circulating antibody level, Hepat... |
ORPHA:381 |
| Lymphoproliferative Syndrome 2 |
|
Decreased circulating antibody level, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophag... |
OMIM:615122 |
| Gaucher Disease, Type I |
|
Anemia, Hypersplenism, Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:230800 |
| Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
| Indolent Systemic Mastocytosis |
|
Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomegaly, Abnormal m... |
ORPHA:98848 |
| Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Increased serum zinc |
OMIM:601979 |
| Adult-Onset Still Disease |
|
Abnormal circulating lipid concentration, Hepatitis, Neutrophilia, Elevated hepatic transaminase,... |
ORPHA:829 |
| Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Decreased circulating tot... |
OMIM:614699 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Cirrhosis, Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Decr... |
OMIM:242150 |
| Shwachman-Diamond Syndrome |
|
Pancreatic hypoplasia, Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropen... |
ORPHA:811 |
| Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Thrombocytopen... |
OMIM:139090 |
| Marburg Hemorrhagic Fever |
|
Leukopenia, Elevated circulating creatinine concentration, Jaundice, Hypokalemia, Elevated hepati... |
ORPHA:99826 |
| Kearns-Sayre Syndrome |
|
Diabetes mellitus, Sideroblastic anemia |
OMIM:530000 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Hepatitis, Coombs-positive hemolytic anemia, Type I diabetes mellitus, Autoimmune thrombo... |
OMIM:304790 |
| Good Syndrome |
|
Thymoma, Anemia, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymus, Diabetes... |
ORPHA:169105 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Ventricular septal defect, Pericardial effusion, Elevated circulating creatine kinase concentrati... |
OMIM:618775 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of neutrophils, Hypochromic anemia |
ORPHA:2720 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Diabetes mellitus, Macrocytic anemia |
ORPHA:98673 |
| Hereditary Orotic Aciduria |
|
Patent ductus arteriosus, Anemia, Impaired T cell function, Splenomegaly |
ORPHA:30 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Decreased serum zinc, Impaired T cell function, Splenomegaly, Hepatomegaly |
OMIM:201100 |
| Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Acanthocytosis, Poikilocytosis |
OMIM:618947 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Increased circulating inosine concentration, Neutropenia in presence of anti-neutropil antibodies... |
OMIM:613179 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Decreased circulating antibody level |
OMIM:618042 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Leukopenia, Biliary cirrhosis, Non-caseating epithelioid cell granulomatosis, Decreased ... |
ORPHA:227990 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating total IgM, Pancytopenia, Decreased circulating IgE, Decreased circulating I... |
OMIM:618394 |
| Neuroendocrine Tumor Of Stomach |
|
Chronic noninfectious lymphadenopathy, Hepatic failure, Elevated hepatic transaminase, Abnormal p... |
ORPHA:100075 |
| Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:98293 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Hypertriglyceridemia, Reduced natural killer cell activity, Decreased circulating antibod... |
ORPHA:540 |
| Immunodeficiency, Common Variable, 2 |
|
Lymphadenopathy, Follicular hyperplasia, Impaired T cell function, Decreased circulating IgA leve... |
OMIM:240500 |
| Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Impaired neutrophil chemotaxis, Polycythemia, Impaired platelet aggregati... |
ORPHA:2968 |
| Fish-Eye Disease |
|
Lymphadenopathy, Decreased HDL cholesterol concentration, Splenomegaly, Hepatomegaly |
ORPHA:79292 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Eleva... |
OMIM:255120 |
| Waldenström Macroglobulinemia |
|
Leukemia, Normocytic anemia, Abnormality of neutrophils, Lymphadenopathy, Hepatomegaly, Monoclona... |
ORPHA:33226 |
| Glycogen Storage Disease Ixc |
|
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Bile duct prolifera... |
OMIM:613027 |
| Glucagonoma |
|
Intermittent jaundice, Extrahepatic cholestasis, Neoplasm of the pancreas, Abnormal abdomen morph... |
ORPHA:97280 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Hyperalaninemia, Hyperprolinemia, Perimembranous ventricular septal defect |
OMIM:619170 |
| Timothy Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot |
OMIM:601005 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Increased sarcoplasmic glycogen, Hepatocellular adenoma, Abnormal er... |
ORPHA:370 |
| Von Hippel-Lindau Disease |
|
Pancreatic cysts, Neoplasm of the pancreas, Pancreatic islet cell adenoma, Polycythemia |
ORPHA:892 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic transaminase, Acholic stools, Intrahepatic... |
OMIM:607765 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Hepatomegal... |
OMIM:601847 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Hemolytic anemia, Lymphopenia, Hepatosplenomegaly, Acute pancreatitis, Lymphadenop... |
OMIM:618935 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Thymoma, Leukopenia, Biliary cirrhosis, Non-caseating epithelioid cell granulomatosis, Decreased ... |
ORPHA:227982 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatic failure, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Intrahepatic choles... |
OMIM:235555 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... |
OMIM:619849 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hyperalaninemia, Elevated hepatic transaminase, Hyperprolinemia, Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Increased circulating antibody level, Elevated hepatic transaminase, Lymphopenia, Lymphad... |
OMIM:617591 |
| Hyperparathyroidism, Neonatal Severe |
|
Anemia, Calcinosis, Hypophosphatemia, Hypercalcemia, Hepatomegaly, Splenomegaly |
OMIM:239200 |
| Necrotizing Enterocolitis |
|
Abnormal glucose homeostasis, Peritonitis, Thrombocytopenia, Leukocytosis, Hyperglycemia, Ascites... |
ORPHA:391673 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hyperechogenic pancreas, Hepatomegaly, Exocrine pancreatic insufficiency, Thro... |
OMIM:617941 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic fibrosis, Hepatic failure, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic ste... |
ORPHA:541423 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Cirrhosis, Elevated circulating alanine aminotransferase concentration, Hepatic failure, Hepatiti... |
OMIM:613812 |
| Letterer-Siwe Disease |
|
Anemia, Jaundice, Hepatosplenomegaly, Thrombocytopenia, Neutropenia |
OMIM:246400 |
| Insulin-Resistance Syndrome Type B |
|
Leukopenia, Biliary cirrhosis, Hyperinsulinemia, Enlarged polycystic ovaries, Hyperglycemia, Fast... |
ORPHA:2298 |
| Duodenal Neuroendocrine Tumor |
|
Extrahepatic cholestasis, Hepatic failure, Increased hematocrit, Elevated hepatic transaminase, I... |
ORPHA:100076 |
| Lysinuric Protein Intolerance |
|
Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly, Hypercholesterolemia, Thrombocyt... |
ORPHA:470 |
| Ileal Neuroendocrine Tumor |
|
Extrahepatic cholestasis, Hepatic failure, Elevated hepatic transaminase, Lymphadenopathy, Tricus... |
ORPHA:100078 |
| Jejunal Neuroendocrine Tumor |
|
Extrahepatic cholestasis, Hepatic failure, Elevated hepatic transaminase, Lymphadenopathy, Tricus... |
ORPHA:100077 |
| Dysplastic Cortical Hyperostosis |
|
Splenomegaly, Hepatomegaly |
ORPHA:2204 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Patent ductus arteriosus, Anemia, Megaloblastic anemia, Pancytopenia, Hepatomegaly, Thrombocytope... |
OMIM:277380 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... |
OMIM:251880 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Leukocytosis, Myeloproli... |
ORPHA:3226 |
| Amyloidosis, Familial Visceral |
|
Cholestasis, Splenomegaly, Hepatomegaly |
OMIM:105200 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Thrombocytopenia, High nonceruloplasmin-bound serum copper, Atrial septal defect |
ORPHA:457351 |
| Hurler-Scheie Syndrome |
|
Splenomegaly, Abnormality of the tonsils, Hepatomegaly, Abnormal heart valve morphology, Cardiomy... |
ORPHA:93476 |
| Gaucher Disease Type 1 |
|
Leukopenia, Anemia, Cirrhosis, Increased circulating antibody level, Hypersplenism, Pancytopenia,... |
ORPHA:77259 |
| Fanconi Anemia, Complementation Group E |
|
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:600901 |
| Nephronophthisis 19 |
|
Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,... |
OMIM:616217 |
| Cinca Syndrome |
|
Anemia, Abnormal granulocyte morphology, Abnormality of neutrophils, Lymphadenopathy, Elevated ci... |
ORPHA:1451 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Hypocalcemia, Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:259700 |
| Follicular Lymphoma |
|
Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly, Mediastinal lymphadenopathy |
ORPHA:545 |
| Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
| Classic Mycosis Fungoides |
|
Lymphadenopathy, Splenomegaly, Abnormal lymphocyte morphology, Hepatomegaly |
ORPHA:2584 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Hyperproteinemia... |
ORPHA:158048 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Enla... |
OMIM:616005 |
| Pulmonary Arteriovenous Malformation |
|
Iron deficiency anemia, Bacterial endocarditis, Liver abscess |
ORPHA:2038 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Polycythemia, Neonatal hypoglycemia, Hepatoblastoma, Hypoglycemia, Hepatomegaly,... |
ORPHA:116 |
| Gaisböck Syndrome |
|
Increased mean corpuscular hemoglobin concentration, Hyperproteinemia, Hyperuricemia, Increased r... |
ORPHA:90041 |
| Infantile Liver Failure Syndrome 3 |
|
Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steatosis, Hyperammon... |
OMIM:618641 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Leukopenia, Anemia, Elliptocytosis, Hypocalcemia, Pancytopenia, Elevated circulating creatine kin... |
ORPHA:2785 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly |
ORPHA:169090 |
| Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Anemia, Diabetes mellitus, Hypoglycemia, Pancreatic aplasia, Hyperglycemia |
OMIM:609069 |
| Mucopolysaccharidosis, Type Iiib |
|
Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly |
OMIM:252920 |
| Gaucher Disease, Type Iiic |
|
Splenomegaly, Mitral stenosis, Pancytopenia, Hepatomegaly, Cardiomegaly, Aortic valve calcificati... |
OMIM:231005 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Increased circulating IgA level, Hepatomegaly, El... |
OMIM:617388 |
| Fanconi Anemia, Complementation Group A |
|
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:227650 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Panhypogammaglobulinemia, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally... |
OMIM:602450 |
| Omenn Syndrome |
|
Anemia, Lymphadenopathy, Leukocytosis, Eosinophilia, Hepatomegaly, Splenomegaly, Abnormal lymphoc... |
ORPHA:39041 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Hepatomegaly |
OMIM:619183 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
| Cartilage-Hair Hypoplasia |
|
Anemia, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemi... |
OMIM:250250 |
| Zinc Deficiency, Transient Neonatal |
|
Decreased serum zinc |
OMIM:608118 |
| Familial Atrial Myxoma |
|
Bacterial endocarditis, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Cardiomegal... |
ORPHA:615 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Anemia, Hepatic fibrosis, Cirrhosis, Hepatocellular adenoma, Abnormal erythrocyte enzyme level, E... |
ORPHA:264580 |
| Pfapa Syndrome |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:42642 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:508542 |
| Thymoma |
|
Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Leukemia |
ORPHA:99867 |
| Prolidase Deficiency |
|
Anemia, Prolonged neonatal jaundice, Increased circulating antibody level, Elevated circulating a... |
OMIM:170100 |
| Felty Syndrome |
|
Anemia, Pericarditis, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Thrombocytopeni... |
ORPHA:47612 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... |
OMIM:211600 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Anemia, Hepatic fibrosis, Elevated hepatic transaminase, Dilated cardiomyopathy, E... |
OMIM:615895 |
| Peutz-Jeghers Syndrome |
|
Iron deficiency anemia, Neoplasm of the pancreas, Biliary tract abnormality, Bile duct polyp |
OMIM:175200 |
| Tangier Disease |
|
Left ventricular hypertrophy, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased ci... |
OMIM:205400 |
| Ogden Syndrome |
|
Patent ductus arteriosus, Microvesicular hepatic steatosis, Enlarged kidney, Jaundice, Maternal d... |
OMIM:300855 |
| Sclerosing Cholangitis, Neonatal |
|
Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jaundice, Acholic stools, ... |
OMIM:617394 |
| Pantothenate Kinase-Associated Neurodegeneration |
|
Abetalipoproteinemia, Acanthocytosis |
ORPHA:157850 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Hepatocellular necrosis, Decreased plasma carnitine, Elevated circulating cr... |
OMIM:201475 |
| Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Decreased circulating apolipoprotein C-II concentration, Hepatomegaly, Hypercholest... |
OMIM:207750 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hyperalaninemia, Pericardial effusion, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly,... |
OMIM:614702 |
| Dend Syndrome |
|
Hyperglycemia, Elevated hemoglobin A1c |
ORPHA:79134 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Pericarditis, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatomegal... |
ORPHA:85414 |
| Tarp Syndrome |
|
Extramedullary hematopoiesis |
ORPHA:2886 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepatic steato... |
ORPHA:42 |
| Fetal Gaucher Disease |
|
Pancytopenia, Thrombocytopenia, Hepatomegaly, Abnormality of the spleen, Splenomegaly |
ORPHA:85212 |
| Transient Neonatal Diabetes Mellitus |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, Maturity-onset di... |
ORPHA:99886 |
| Multiple Myeloma |
|
Anemia, Decreased circulating antibody level, Lymphadenopathy, Increased circulating IgA level, H... |
ORPHA:29073 |
| Late-Onset Isolated Acth Deficiency |
|
Hepatitis, Normocytic anemia, Type I diabetes mellitus, Hypoglycemia, Macrocytic anemia, Eosinoph... |
ORPHA:199299 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Abnormality of the hepatic vasculature, Normochromic anemia, Nodular regenerat... |
ORPHA:247691 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Hyperhomocystinemia, Elevated circulating palmitoleylcarnitine concentratio... |
ORPHA:79284 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia, Jaundice |
ORPHA:90033 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly |
ORPHA:59303 |
| Chromosome 15Q25 Deletion Syndrome |
|
Polysplenia, Macrocytic anemia |
OMIM:614294 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Bone marrow h... |
ORPHA:86843 |
| Caroli Disease |
|
Cholelithiasis, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Periportal fibrosis, Elevated cir... |
ORPHA:53035 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Anemia, Decreased circulating total IgM, Decreased circulating IgA level, Hepatomegaly, Hypocalce... |
OMIM:612301 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Cirrhosis, Ventricular septal defect, Elevated hepatic transaminase, Pancytopenia, Atrial septal ... |
OMIM:614576 |
| Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Jaundice, Elev... |
ORPHA:567983 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Thrombocytopenia, Normochromic anemia |
OMIM:254900 |
| Immunodeficiency 54 |
|
Reduced natural killer cell count, Lymphadenopathy, Splenomegaly, Hepatomegaly |
OMIM:609981 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hyperalaninemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly |
OMIM:619051 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Decreased circulating total IgM, B lymphocytopenia, Absent specific antibody response, Decreased ... |
OMIM:102700 |
| Gaucher Disease, Perinatal Lethal |
|
Anemia, Hepatic failure, Ascites, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly, Thrombocytopeni... |
OMIM:608013 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hyperglycemia, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hepatomegaly |
OMIM:608600 |
| X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Elevated hepatic transaminase, Hepatosplenomegaly, Increased T cell count, Bon... |
ORPHA:2442 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Patent ductus arteriosus, Elliptocytosis, Anemia |
OMIM:300990 |
| Fanconi Anemia, Complementation Group C |
|
Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:227645 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Anemia, Hepatic arteriovenous malformation, Polycythemia, Cirrhosis |
OMIM:600376 |
| Common Variable Immunodeficiency |
|
Abnormality of the liver, Hemolytic anemia, Decreased circulating antibody level, Lymphopenia, Au... |
ORPHA:1572 |
| Cronkhite-Canada Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:2930 |
| Legionnaires Disease |
|
Endocarditis, Hepatitis, Jaundice, Pancreatitis, Lymphopenia, Pericarditis, Lymphadenopathy, Bone... |
ORPHA:549 |
| Wiskott-Aldrich Syndrome |
|
Decreased circulating total IgM, Reduced natural killer cell activity, Absent microvilli on the s... |
OMIM:301000 |
| Lead Poisoning |
|
Abnormal T cell morphology, Anemia, Imbalanced hemoglobin synthesis, Increased LDL cholesterol co... |
ORPHA:330015 |
| Tyrosinemia, Type I |
|
Hypermethioninemia, Anemia, Cirrhosis, Hepatic failure, Enlarged kidney, Hepatocellular carcinoma... |
OMIM:276700 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Autoimmune Hepatitis |
|
Increased total bilirubin, Cirrhosis, Fulminant hepatitis, Increased circulating antibody level, ... |
ORPHA:2137 |
| Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Truncus arteriosus, Ventricular septal defect, Portal hypertension, Splenomegaly |
OMIM:616589 |
| Congenital Pulmonary Lymphangiectasia |
|
Splenomegaly, Chylopericardium, Hepatomegaly, Ascites, Pulmonic stenosis |
ORPHA:2414 |
| Cirrhotic Cardiomyopathy |
|
Abnormal circulating A-type atrial natriuretic peptide concentration, Cirrhosis, Jaundice, Left v... |
ORPHA:57777 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
| Classic Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity, Hepatomegaly |
ORPHA:391 |
| Sézary Syndrome |
|
Abnormal immunoglobulin level, Lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormal lymphocyte m... |
ORPHA:3162 |
| Muckle-Wells Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:575 |
| Mogs-Cdg |
|
Decreased circulating total IgM, Decreased circulating antibody level, Left ventricular hypertrop... |
ORPHA:79330 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Leukopenia, Anemia, Enlarged kidney, Atrial septal defect, Macrovesicular hepatic steatosis, Hype... |
OMIM:617303 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Anemia, Hepatic fibrosis, Cirrhosis, Hepatocellular adenoma, Hepatocellular carcinoma, Elevated h... |
ORPHA:79240 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Cirrhosis, Hyperinsulinemia, Type II diabetes mellitus, Maternal diabetes, Insulin resistance, He... |
OMIM:604367 |
| Chediak-Higashi Syndrome |
|
Leukopenia, Anemia, Jaundice, Giant neutrophil granules, Lymphadenopathy, Hemophagocytosis, Hepat... |
OMIM:214500 |
| Hyperlipoproteinemia, Type I |
|
Jaundice, Pancreatitis, Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Hypercholesterolemi... |
OMIM:238600 |
| Farber Lipogranulomatosis |
|
Splenomegaly, Hepatomegaly, Lipogranulomatosis |
OMIM:228000 |
| Mulibrey Nanism |
|
Pericardial constriction, Myocardial fibrosis, Hepatomegaly, Cardiomegaly, Ascites |
OMIM:253250 |
| Whipple Disease |
|
Anemia, Pericarditis, Hepatomegaly, Hyponatremia, Mediastinal lymphadenopathy, Myocarditis, Splen... |
ORPHA:3452 |
| Pituitary Apoplexy |
|
Hypoglycemia, Normochromic anemia |
ORPHA:95613 |
| Hyperlipoproteinemia, Type Id |
|
Recurrent pancreatitis, Decreased LDL cholesterol concentration, Pancreatitis, Hyperlipoproteinem... |
OMIM:615947 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the great arter... |
ORPHA:860 |
| Vipoma |
|
Intermittent jaundice, Extrahepatic cholestasis, Neoplasm of the pancreas, Neoplasm of the liver,... |
ORPHA:97282 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Anemia, Dilated cardiomyopathy, Iron deficiency anemia, Abnormal circulating selenium concentrati... |
ORPHA:79408 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Iron deficiency anemia, Exocrine pancreatic insufficiency |
ORPHA:309031 |
| Q Fever |
|
Endocarditis, Anemia, Abnormality of the liver, Increased circulating antibody level, Pericardial... |
ORPHA:781 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Decreased... |
OMIM:608836 |
| Budd-Chiari Syndrome |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Cholecystitis, Hepatomegaly, Portal hypertens... |
ORPHA:131 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Anemia, Cirrhosis, Microvesicular hepatic steatosis, Ventricular septal defect, Polysplenia, Macr... |
OMIM:619418 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia, Left ventricular hypertrophy, Leukocytosis |
ORPHA:90065 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... |
OMIM:618052 |
| Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Anemia, Pericardial effusion, Enlarged kidney, Abnormal spleen morphology, Abno... |
ORPHA:464329 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... |
OMIM:262190 |
| Chédiak-Higashi Syndrome |
|
Pericardial effusion, Elevated hepatic transaminase, Hepatosplenomegaly, Hyponatremia, Decreased ... |
ORPHA:167 |
| Gitelman Syndrome |
|
Pericardial effusion, Hypokalemia, Neoplasm of the pancreas, Hypermagnesemia, Iron deficiency ane... |
ORPHA:358 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus |
OMIM:618856 |
| Non-Functioning Pituitary Adenoma |
|
Anemia of inadequate production |
ORPHA:91349 |
| Mastocytosis |
|
Mastocytosis, Hypercalcemia, Hepatomegaly, Acute leukemia, Splenomegaly, Chronic leukemia |
ORPHA:98292 |
| Glycogen Storage Disease Ii |
|
Elevated circulating creatine kinase concentration, Increased circulating NT-proBNP concentration... |
OMIM:232300 |
| Lesch-Nyhan Syndrome |
|
Megaloblastic anemia |
OMIM:300322 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Gaucher Disease Type 3 |
|
Mitral valve calcification, Anemia, Increased circulating antibody level, Pericardial effusion, A... |
ORPHA:77261 |
| Congenital Disorder Of Glycosylation, Type It |
|
Elevated circulating alanine aminotransferase concentration, Ventricular septal defect, Hepatitis... |
OMIM:614921 |
| Adenohypophysitis |
|
Normochromic anemia |
ORPHA:95512 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Anemia, Hepatic arteriovenous malformation, Polycythemia, Cirrhosis |
OMIM:187300 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Enlarged kidney, Poly... |
OMIM:208540 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
| Degcags Syndrome |
|
Leukopenia, Anemia, Patent foramen ovale, Ventricular septal defect, Abnormal spleen morphology, ... |
OMIM:619488 |
| Primary Lipodystrophy |
|
Splenomegaly, Cirrhosis, Hepatic steatosis, Hyperlipidemia, Pancreatitis, Cardiomyopathy |
ORPHA:90970 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:85447 |
| Adams-Oliver Syndrome 5 |
|
Patent foramen ovale, Hypersplenism, Pulmonic stenosis, Right ventricular hypertrophy, Portal vei... |
OMIM:616028 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Chronic neutropenia, Decreased circulating total IgM, B lymphocytopenia, Decreased specific antib... |
OMIM:614700 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pancreatic hypoplasia, Retroperitoneal fibrosis, Ventricular septal defect, Pulmonic stenosis, Mi... |
OMIM:602782 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
| Refsum Disease, Classic |
|
Cardiomegaly, Elevated circulating phytanic acid concentration, Cardiomyopathy |
OMIM:266500 |
| Fanconi Anemia, Complementation Group D2 |
|
Anemia, Reticulocytopenia, Pancytopenia, Annular pancreas, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:227646 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Anemia, Hypoplasia of the thymus, Pulmonic stenosis, Secundum atrial septal defect, C... |
OMIM:612541 |
| Panhypophysitis |
|
Normochromic anemia |
ORPHA:95513 |
| Addison Disease |
|
Thymoma, Normocytic anemia, Type I diabetes mellitus, Thiamine-responsive megaloblastic anemia, H... |
ORPHA:85138 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Acanthocytosis |
OMIM:234200 |
| Isolated Biliary Atresia |
|
Atretic gallbladder, Cirrhosis, Periportal fibrosis, Jaundice, Elevated hepatic transaminase, Ach... |
ORPHA:30391 |
| Sepsis In Premature Infants |
|
Anemia, Jaundice, Elevated circulating C-reactive protein concentration, Leukocytosis, Hepatomega... |
ORPHA:90051 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Asplenia, Atrioventricular canal defect, Hepatomegaly, Abdominal sit... |
OMIM:306955 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Thrombocytopenia, Neutropenia, Megaloblastic anemia |
OMIM:277400 |
| Primary Sjögren Syndrome |
|
Leukopenia, Biliary cirrhosis, Chronic active hepatitis, Increased circulating antibody level, No... |
ORPHA:289390 |
| Sheehan Syndrome |
|
Hypoglycemia, Normochromic anemia |
ORPHA:91355 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
| Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Iron deficiency anemia, Hepatoblastoma |
ORPHA:261584 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Hepatic failure, Decreased plasma free carnitin... |
ORPHA:228308 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Hypophosphatemic rickets, Right atrial enlargement |
OMIM:614473 |
| Sandhoff Disease |
|
Cardiomegaly, Abnormal glycosphingolipid metabolism, Hepatomegaly, Hepatosplenomegaly |
OMIM:268800 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatic failure, Ventricular septal defect, Thyroid lymphangiectasia, Pulmonary lymphangiectasia,... |
OMIM:235255 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Hypoglycemia |
ORPHA:95409 |
| Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
| Mixed Connective Tissue Disease |
|
Leukopenia, Hemolytic anemia, Pericarditis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadeno... |
ORPHA:809 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Intrahepatic biliary atresia, Hepatic fibrosis, Hepatic failure, Sclerosing cholangitis, Jaundice... |
OMIM:607626 |
| Niemann-Pick Disease, Type C1 |
|
Sea-blue histiocytosis, Fetal ascites, Bone-marrow foam cells, Hepatomegaly, Fatal liver failure ... |
OMIM:257220 |
| Doors Syndrome |
|
Thrombocytosis |
ORPHA:79500 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Ventricular septal hypertrophy,... |
OMIM:115197 |
| Donohue Syndrome |
|
Hepatic fibrosis, Hyperinsulinemia, Postprandial hyperglycemia, Cholestasis, Pancreatic islet-cel... |
OMIM:246200 |
| Gaucher Disease, Type Ii |
|
Thrombocytopenia, Splenomegaly, Anemia, Hepatomegaly |
OMIM:230900 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Megaloblastic anemia |
ORPHA:79351 |
| Chronic Granulomatous Disease |
|
Liver abscess, Abnormality of neutrophils, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:379 |
| Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Red... |
OMIM:608233 |
| Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... |
ORPHA:555874 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly |
ORPHA:391428 |
| Fucosidosis |
|
Cardiomegaly, Vacuolated lymphocytes, Splenomegaly, Hepatomegaly |
OMIM:230000 |
| Lysinuric Protein Intolerance |
|
Leukopenia, Anemia, Pancreatitis, Increased circulating ferritin concentration, Hemophagocytosis,... |
OMIM:222700 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Iron deficiency anemia |
ORPHA:93315 |
| Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Cardiomegaly, Ventricular septal defect, Atrial septal defect |
OMIM:618652 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Coronary artery stenosis, Pancreatitis, Elevated circulating creatine kinase concentration, Abnor... |
ORPHA:565612 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatic failure, Ventricular septal defect, Pulmonary lymphangiectasia, Hepatosplenomegaly, Pancr... |
ORPHA:1655 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Splenomegaly, Hepatomegaly |
OMIM:612852 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Renal tubular epithelial necrosis |
ORPHA:49041 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Patent foramen ovale, Anemia, Ventricular septal defect, Bicuspid aortic valve, Decreased serum i... |
ORPHA:438213 |
| Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Bacterial endocarditis, Ventricular septal defect, Abnormal cardia... |
ORPHA:3092 |
| Cantu Syndrome |
|
Pericardial effusion, Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve |
OMIM:239850 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Abnormal circulating lipid concentration, Cirrhosis, Hepatic failure, Hyperspleni... |
ORPHA:77293 |
| Aicardi-Goutieres Syndrome 7 |
|
Anemia, Hemolytic anemia, Increased circulating antibody level, Pericardial effusion, Hepatitis, ... |
OMIM:615846 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Megaloblastic anemia, Jaundice, Hypoglycemia, Thrombocytopenia, Neutropenia |
ORPHA:79282 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Pancreatic cysts, Hepatic fibrosis, Biliary hyperplasia, Periportal fibrosis, Hypersplenism, Enla... |
ORPHA:731 |
| Glycogen Storage Disease Ib |
|
Hyperuricemia, Enlarged kidney, Pancreatitis, Hepatocellular carcinoma, Elevated hepatic transami... |
OMIM:232220 |
| Slc39A8-Cdg |
|
Hypomanganesemia, Abnormality of the liver, Abnormal blood zinc concentration |
ORPHA:468699 |
| Choreoacanthocytosis |
|
Elevated circulating alanine aminotransferase concentration, Abnormal erythrocyte enzyme level, E... |
ORPHA:2388 |
| Kikuchi-Fujimoto Disease |
|
Abnormal lymph node morphology, Leukopenia, Anemia, Myocarditis, Lymphocytosis, Elevated hepatic ... |
ORPHA:50918 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Anemia, Hypophosphatemia, Lymphadenopathy, Abnormal pulmonary valve morphology, Hepatomegaly, Hyp... |
ORPHA:667 |
| Primary Sclerosing Cholangitis |
|
Hepatocellular carcinoma, Cholangiocarcinoma, Elevated hepatic transaminase, Hepatosplenomegaly, ... |
ORPHA:171 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... |
OMIM:233710 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia |
OMIM:619737 |
| Reynolds Syndrome |
|
Biliary cirrhosis, Calcinosis, Hyperbilirubinemia, Jaundice, Elevated hepatic transaminase, Lymph... |
OMIM:613471 |
| Niemann-Pick Disease, Type C2 |
|
Sea-blue histiocytosis, Jaundice, Fetal ascites, Bone-marrow foam cells, Hepatomegaly, Prolonged ... |
OMIM:607625 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Cardiomegaly, Hypoalbuminemia |
ORPHA:255249 |
| Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia |
OMIM:175700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... |
OMIM:233690 |
| Familial Mediterranean Fever |
|
Neutrophilia, Pericarditis, Elevated circulating C-reactive protein concentration, Leukocytosis, ... |
OMIM:249100 |
| Hyper-Igd Syndrome |
|
Lymphadenitis, Neutrophilia, Increased circulating IgD level, Hepatosplenomegaly, Lymphadenopathy... |
OMIM:260920 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia |
OMIM:604484 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Cirrhosis, Elevated hepatic transaminase, Ventricular septal hypertrophy, Hepatic steatosis, Hype... |
OMIM:269700 |
| Hardikar Syndrome |
|
Elevated hepatic transaminase, Portal inflammation, Hepatosplenomegaly, Hepatomegaly, Decreased l... |
OMIM:301068 |
| Danon Disease |
|
Dilated cardiomyopathy, Myocardial fibrosis, Elevated circulating creatine kinase concentration, ... |
OMIM:300257 |
| Coronary Arterial Fistula |
|
Patent foramen ovale, Cardiomegaly, Bacterial endocarditis, Bicuspid aortic valve, Atrial septal ... |
ORPHA:2041 |
| Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Jaundice, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Splenomegaly |
OMIM:263700 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Reduced natural killer cell count, Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circul... |
OMIM:619381 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Hepatitis, Splenic cyst, Cholestasis, ... |
OMIM:610199 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Elevated circulating alanine aminotransferase concentration, Left ventricular hypertrophy, Elevat... |
ORPHA:308552 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ascites, Cardiomegaly, Ventricular septal defect |
OMIM:616897 |
| Fanconi-Bickel Syndrome |
|
Abnormal hepatic glycogen storage, Impaired glucose tolerance, Glycosuria, Hepatocellular carcino... |
ORPHA:2088 |
| Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Acholic stools, Diabetes mellitus, Ch... |
OMIM:615710 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Hypophosphatemic rickets, Dilated cardiomyopathy |
OMIM:208000 |
| Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Overriding aorta, Hypoplasia of the thymus, Ventricular septal defect |
OMIM:617022 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Hepatic fibrosis, Periportal fibrosis, Enlarged kidney, Hepatomegaly, Hepatic c... |
OMIM:263200 |
| Gaucher Disease |
|
Abnormal pericardium morphology, Mitral valve calcification, Anemia, Cirrhosis, Increased circula... |
ORPHA:355 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Increased hepatic glycogen content, Cardiomegaly, Cardiomyopathy |
OMIM:619259 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve pro... |
ORPHA:324410 |
| Fucosidosis |
|
Abnormality of the gallbladder, Cardiomegaly, Hepatomegaly |
ORPHA:349 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Glycosuria, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Calcinosis, Hypokalemia, Hyponatremia, Hypocalcemia, Splenomegaly |
OMIM:617913 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Craniofaciofrontodigital Syndrome |
|
Ventricular septal defect, Pericardial effusion, Bicuspid aortic valve, Atrial septal defect, Aor... |
ORPHA:363705 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Cardiomyopathy |
OMIM:105210 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Complete atrioventricular can... |
ORPHA:1329 |
| Granulomatous Disease, Chronic, X-Linked |
|
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... |
OMIM:306400 |
| Isolated Right Ventricular Hypoplasia |
|
Patent foramen ovale, Atrial septal defect, Muscular ventricular septal defect, Cardiomegaly, Rig... |
ORPHA:439 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Reduced hematocrit, Increased circulating antibody level, Normocytic anemia, Renal tubular epithe... |
ORPHA:91500 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Right ventricular hypertrophy, Elevated circulating creatine kinase concentration |
ORPHA:268 |
| Bardet-Biedl Syndrome 9 |
|
Hyperglycemia |
OMIM:615986 |
| Short Syndrome |
|
Hyperglycemia, Insulin resistance, Glucose intolerance, Insulin-resistant diabetes mellitus |
OMIM:269880 |
| Occipital Horn Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
OMIM:304150 |
| Hepatoerythropoietic Porphyria |
|
Abnormal circulating porphyrin concentration, Hemolytic anemia, Splenomegaly, Erythroid hyperplasia |
ORPHA:95159 |
| Fanconi Anemia |
|
Patent ductus arteriosus, Leukopenia, Anemia, Abnormality of the liver, Pyridoxine-responsive sid... |
ORPHA:84 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
| Mucolipidosis Ii Alpha/Beta |
|
Increased serum beta-hexosaminidase, Enlarged kidney, Hypertrophic cardiomyopathy, Hepatomegaly, ... |
OMIM:252500 |
| Tropical Endomyocardial Fibrosis |
|
Restrictive cardiomyopathy, Coronary artery stenosis, Right ventricular cardiomyopathy, Endocardi... |
ORPHA:75565 |
| Mucopolysaccharidosis Type 3 |
|
Abnormal mitral valve morphology, Abnormal aortic valve morphology, Adenoiditis, Hepatomegaly, Ca... |
ORPHA:581 |
| Aicardi-Goutières Syndrome |
|
Chronic lymphatic leukemia, Elevated hepatic transaminase, Hepatosplenomegaly, Hypertrophic cardi... |
ORPHA:51 |
| Acute Transverse Myelitis |
|
Decreased circulating copper concentration |
ORPHA:139417 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus |
OMIM:608612 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Acute pancreatitis, Hepatomegaly,... |
OMIM:151660 |
| Aorta Coarctation |
|
Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspid aortic valve, Abnormal l... |
ORPHA:1457 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Glycosuria, Postprandial hyperglycemia, Ketotic hypoglycemia |
ORPHA:2089 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Patent foramen ovale, Bicuspid aortic valve, Mitral valve prolapse, Left ventricular hypertrophy,... |
OMIM:245600 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperinsulinemia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hepatomegaly, ... |
OMIM:248370 |
| Developmental And Epileptic Encephalopathy 95 |
|
Cardiomegaly, Hepatomegaly |
OMIM:618143 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Hypoglycemia |
OMIM:615453 |
| Truncus Arteriosus |
|
Hypoplasia of the thymus, Truncus arteriosus, Ventricular septal defect, Transposition of the gre... |
ORPHA:3384 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology |
ORPHA:1517 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pericardial effusion, Enlarged kidney, Hypertrophic cardiomyopathy, Biventricular hypertrophy, In... |
OMIM:261740 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Elevated circulating alanine aminotransferase concentration, Glycogen accumulation in muscle fibe... |
ORPHA:365 |
| Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia |
ORPHA:681 |
| Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... |
OMIM:601214 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... |
OMIM:620066 |
| Cole Disease |
|
Hyperglycemia |
OMIM:615522 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Atrial septal dilatation, Hepatomegaly, Abnormality of the hepatic vasculature, Cardiomegaly, Rig... |
ORPHA:1677 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Abnormality of the thymus, Cardiomegaly |
ORPHA:2463 |
| Wrinkly Skin Syndrome |
|
High nonceruloplasmin-bound serum copper, Atrial septal dilatation |
ORPHA:2834 |
| Rabson-Mendenhall Syndrome |
|
Fasting hypoglycemia, Impaired glucose tolerance, Diabetic ketoacidosis, Insulin resistance, Post... |
ORPHA:769 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hyperglycemia |
OMIM:615954 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
| Pyruvate Carboxylase Deficiency |
|
Hyperglycemia, Hypoglycemia, Hepatomegaly |
ORPHA:3008 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Microvesicular hepatic steatosis, Periportal fibrosis, Cholangitis, Hepatic steatosis, Hypoglycem... |
OMIM:124000 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Reduced pancreatic beta cells, Neonatal insulin-dependent diabetes mellitu... |
ORPHA:99885 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Single ventricle, Atrial septal defect, Abnormal heart morphology, Par... |
ORPHA:95430 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Cholelithiasis, Abnormal cardiac septum morphology, Annular pancreas |
ORPHA:97297 |
| Histiocytoid Cardiomyopathy |
|
Cardiomegaly, Ventricular septal defect, Hepatomegaly |
ORPHA:137675 |
| Absence Of The Pulmonary Artery |
|
Patent foramen ovale, Truncus arteriosus, Abnormal cardiac septum morphology, Atrial septal defec... |
ORPHA:980 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Cardiomegaly, Ventricular septal defect, Hepatomegaly |
ORPHA:96191 |
| Beckwith-Wiedemann Syndrome |
|
Pancreatic hyperplasia, Enlarged kidney, Hepatoblastoma, Hepatomegaly, Cardiomegaly, Cardiomyopathy |
OMIM:130650 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Left ventricular noncompac... |
OMIM:300967 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve |
ORPHA:91387 |
| Atypical Werner Syndrome |
|
Hyperinsulinemia, Glycosuria, Type II diabetes mellitus, Hepatic steatosis, Diabetes mellitus, In... |
ORPHA:79474 |
| Leprechaunism |
|
Hyperinsulinemia, Enlarged kidney, Insulin resistance, Recurrent infantile hypoglycemia, Postpran... |
ORPHA:508 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Cardiac total anomalous... |
ORPHA:99125 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Pancreatic hypoplasia, Biliary atresia, Patent ductus arteriosus, Glycosuria,... |
OMIM:600001 |
| Williams Syndrome |
|
Abnormal circulating lipid concentration, Ventricular septal defect, Abnormal cardiac septum morp... |
ORPHA:904 |
| Scorpion Envenomation |
|
Hyperglycemia, Acute pancreatitis, Glycosuria |
ORPHA:466677 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:615812 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Pancreatic calcification, Pericardial effusion, Myocardial calcification... |
ORPHA:51608 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Patent ductus arteriosus, Hyperglycemia |
ORPHA:444077 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Microvesicular hepatic steatosis, Left ventricular hypertrophy, Hypoglycemia, Hyperglycemia, Incr... |
OMIM:220111 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Atrial septal defect, Cardiomegaly, Tetralogy of Fallot, Cardiomyopathy |
ORPHA:3472 |
| Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia |
ORPHA:79102 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyperglycemia |
ORPHA:293987 |
| Singleton-Merten Syndrome 1 |
|
Subvalvular aortic stenosis, Aortic valve stenosis, Cardiomegaly, Aortic valve calcification, Mit... |
OMIM:182250 |
