Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Spastic Paraplegia And Evans Syndrome |
|
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia |
OMIM:601608 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Spherocytosis, Type 2 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:616649 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Spherocytosis, Splenomegaly |
OMIM:612653 |
Immunodeficiency 69 |
|
Failure to thrive, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, ... |
OMIM:618963 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... |
OMIM:109270 |
Glutathione Peroxidase Deficiency |
|
Compensated hemolytic anemia, Heinz bodies |
OMIM:614164 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Spherocytosis, Splenomegaly |
OMIM:182900 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:231900 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Reticulocytosis, Erythroid hyperplasia, Splenomegaly |
OMIM:237800 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Asplenia, Howell-Jolly bodies |
OMIM:271400 |
Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Glut1 Deficiency Syndrome 2 |
|
Increased CSF lactate, Splenomegaly, Hypoglycorrhachia, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia |
ORPHA:32 |
Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis |
OMIM:266140 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto... |
OMIM:615631 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
Porphyria, Acute Hepatic |
|
Hemolytic anemia, Failure to thrive |
OMIM:612740 |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:230450 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Failure to thrive, Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... |
OMIM:616689 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... |
OMIM:187800 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ... |
ORPHA:86841 |
Glutamate-Cysteine Ligase Deficiency |
|
Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis |
ORPHA:33574 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Splenomegaly |
OMIM:206400 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Poikilocytosis, Anemia |
OMIM:615234 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Storage Pool Platelet Disease |
|
Acute leukemia, Decreased mean platelet volume |
OMIM:185050 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Splenomegaly |
OMIM:179700 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Autoimmune hemolytic an... |
ORPHA:444463 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Stomatocytosis |
OMIM:301083 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Rh Deficiency Syndrome |
|
Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anemia, Hemolytic anemia... |
ORPHA:71275 |
Cryohydrocytosis |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly |
OMIM:185020 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Anemia of inadequate production, Reticulocytosis, Splenomegaly |
OMIM:224100 |
Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187950 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Splenomegaly, Small for gestational age, Anisocytosis, Schistocy... |
OMIM:224120 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly |
ORPHA:294 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia |
OMIM:615010 |
Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Alpha-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism |
ORPHA:846 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... |
OMIM:617780 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia |
OMIM:618660 |
Hereditary Spherocytosis |
|
Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, Spontaneous hemolytic crises, ... |
ORPHA:822 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... |
OMIM:613673 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly |
OMIM:314050 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
Bleeding Disorder, Platelet-Type, 15 |
|
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis |
OMIM:615193 |
Elliptocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Elliptocytosis |
OMIM:130600 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus, Thrombocytopenia |
OMIM:209970 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis |
ORPHA:90044 |
Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia |
OMIM:300653 |
Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital And Other Abnormalities |
|
Hemolytic anemia, Hepatosplenomegaly |
OMIM:600461 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
|
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia |
OMIM:141700 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Thrombocytosis, Hepatosplenomegaly, Microcytic anemia, Pancytopenia |
OMIM:604416 |
Immunodeficiency 27A |
|
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Weight loss, Anemia |
OMIM:209950 |
Diamond-Blackfan Anemia 13 |
|
Normocytic anemia, Elevated red cell adenosine deaminase level |
OMIM:615909 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Thrombocytopenia |
OMIM:166990 |
Immunodeficiency 52 |
|
Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo... |
OMIM:617514 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocytosis |
OMIM:232800 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly |
OMIM:185000 |
Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia, Communicating hydrocephalus |
ORPHA:1237 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Failure to thrive, Hepatosplenomegaly, Hemolytic anemia, Retic... |
OMIM:611590 |
Icf Syndrome |
|
Abnormality of neutrophils, Anemia, Lymphopenia, Communicating hydrocephalus |
ORPHA:2268 |
Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia |
ORPHA:54057 |
Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:206100 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis |
OMIM:300367 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Failure to thrive, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thr... |
ORPHA:35858 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Normochromic anemia |
OMIM:245900 |
Thrombocytopenia 1 |
|
Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume |
OMIM:313900 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia |
OMIM:611490 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
Primary Myelofibrosis |
|
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Cachexia, Hepatosplenomegaly, Thrombocy... |
ORPHA:824 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Splenomegaly, Hypochromic microcytic anemia, B lymphocytopenia, Communicating hydrocephalus, Schi... |
OMIM:616084 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Reticulocytosis, Normochromic a... |
OMIM:235700 |
Hereditary Elliptocytosis |
|
Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemolytic anemia, Elliptocytosis, Stom... |
ORPHA:288 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt... |
OMIM:300908 |
Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:618892 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... |
OMIM:614470 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia |
OMIM:261000 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Lymphopenia, Absent microvilli on the surface of peripheral blood lymphocytes, Decreased mean pla... |
OMIM:600903 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Sitosterolemia 1 |
|
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Impaired platelet aggregation, Chronic ... |
OMIM:210250 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Splenomegaly, Decreased hemoglobin concentration, Chronic hemolytic anemia, Reticulocytosis, Eryt... |
OMIM:266200 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... |
OMIM:155100 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia |
OMIM:205950 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Hemolytic Anemia, Congenital, X-Linked |
|
Hemolytic anemia |
OMIM:301015 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Decreased hemoglobin concentration, Reticulocytosis |
ORPHA:713 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Hepatosplenomegaly, Hypoglycorrhachia, Spontaneous hemolytic crises, Communicating hydrocephalus,... |
ORPHA:168577 |
Chromosome 5Q Deletion Syndrome |
|
Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia |
OMIM:153550 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Thrombocytopenia, Lymphopenia |
OMIM:616744 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia |
OMIM:616176 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Anemia, Autoimmune Hemolytic |
|
Autoimmune hemolytic anemia |
OMIM:205700 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Thrombocytosis, Coombs-positive hemolytic anemia, Asplenia |
OMIM:614034 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly |
OMIM:153670 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Splenomegaly, Increased red cell hemolysis by shear stress, Increased mean corpuscular hemoglobin... |
OMIM:194380 |
Elliptocytosis 1 |
|
Hemolytic anemia, Elliptocytosis, Splenomegaly |
OMIM:611804 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Hemolytic anemia, Increased CSF protein |
OMIM:612300 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ... |
OMIM:231200 |
Megaloblastic Anemia, Folate-Responsive |
|
Hypersegmentation of neutrophil nuclei, Folate-responsive megaloblastic anemia, Episodic hemolyti... |
OMIM:601775 |
Orotic Aciduria |
|
Hypochromia, Failure to thrive, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocy... |
OMIM:258900 |
Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:611783 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, T... |
OMIM:615285 |
Erythrocytosis, Familial, 5 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617907 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythrocyte mor... |
ORPHA:98870 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Rh-Null, Regulator Type |
|
Hemolytic anemia, Stomatocytosis |
OMIM:268150 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
Nephronophthisis |
|
Anemia |
ORPHA:655 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly |
OMIM:312500 |
Erythrocytosis, Familial, 8 |
|
Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, Normochromic anemia |
OMIM:222800 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:609820 |
Congenital Atransferrinemia |
|
Anemia |
ORPHA:1195 |
Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Hydrocephalus, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
Slc35A1-Cdg |
|
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia |
ORPHA:238459 |
Fechtner syndrome |
|
Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets |
OMIM:153640 |
Myh9-Related Disease |
|
Increased mean platelet volume, Congenital thrombocytopenia, Neutrophil inclusion bodies, Giant p... |
ORPHA:182050 |
Diamond-Blackfan Anemia 12 |
|
Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a... |
OMIM:615550 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Spherocytosis, Splenomegaly |
ORPHA:251066 |
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration |
|
Acanthocytosis |
OMIM:607236 |
Wiskott-Aldrich Syndrome |
|
Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... |
OMIM:301000 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Hydrocephalus, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617980 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Leukopenia, Thrombocytopenia |
OMIM:152700 |
Babesiosis |
|
Hemolytic anemia, Leukopenia, Thrombocytopenia, Splenomegaly |
ORPHA:108 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia |
OMIM:177000 |
Diamond-Blackfan Anemia 4 |
|
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia |
OMIM:612527 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Schistocytosis |
OMIM:274150 |
Erythroleukemia, Familial, Susceptibility To |
|
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia |
OMIM:133180 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia |
OMIM:618849 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Neonatal death |
OMIM:273680 |
Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased hematocrit |
OMIM:617981 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hypoglycorrhachia, Splenomegaly |
OMIM:608885 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Schistocytosis |
OMIM:235400 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly |
OMIM:133100 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Hemolytic anemia |
OMIM:615399 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia |
OMIM:616959 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decreased proportion... |
OMIM:619375 |
Congenital Toxoplasmosis |
|
Hydrocephalus, Ventriculomegaly, Anemia, Thrombocytopenia, Failure to thrive in infancy |
ORPHA:858 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Failure to thrive, Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, V... |
OMIM:304790 |
Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Neonatal Lupus Erythematosus |
|
Hydrocephalus, Neutropenia, Splenomegaly, Aplastic anemia, Hemolytic anemia, Pancytopenia, Anemia... |
ORPHA:398124 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Failure to thrive, Leukocytosis, Anisocytosis, Hepatosplenomeg... |
OMIM:618278 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... |
OMIM:601859 |
Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Bone Marrow Failure Syndrome 2 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:615715 |
Autoimmune Hemolytic Anemia |
|
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:98375 |
Abetalipoproteinemia |
|
Acanthocytosis |
OMIM:200100 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Failure to thrive, Lymphopenia, Leukopenia, Thrombocytosis, Anemia |
OMIM:615934 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:266120 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Splenomegaly |
ORPHA:56425 |
Pelger-Huet Anomaly |
|
Failure to thrive, Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant plate... |
OMIM:169400 |
Developmental And Epileptic Encephalopathy 50 |
|
Anemia, Anisopoikilocytosis, Acanthocytosis, Schistocytosis |
OMIM:616457 |
Diamond-Blackfan Anemia 5 |
|
Leukopenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia |
OMIM:612528 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Increased mean platelet volume, Thrombocytopenia |
OMIM:300048 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
Thrombocytopenia 7 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619130 |
Acute Erythroid Leukemia |
|
Pancytopenia, Leukopenia, Anemia, Erythroid hypoplasia |
ORPHA:318 |
Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Failure to thrive, Increased hemoglobin, Increased hematocrit |
OMIM:263400 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Decreased mean corpuscular volume, Hepatosplenomegaly, Anisopoikilocytosis, Dysplastic erythropoe... |
ORPHA:300298 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Anemia, Thrombocytopenia |
ORPHA:848 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia |
OMIM:612922 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Thrombocytosis, Iron deficiency anemia |
OMIM:226300 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anemia, Anisopoikilocytosis, Neutropenia |
OMIM:619835 |
Galactosemia I |
|
Hemolytic anemia, Failure to thrive |
OMIM:230400 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Leukemia, Neutropenia |
OMIM:614082 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia |
OMIM:612926 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis |
OMIM:608898 |
Immunodeficiency 92 |
|
Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decreased proportion of class-swi... |
OMIM:619652 |
Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... |
ORPHA:98826 |
Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Anemia, Thrombocytopenia, Splenomegaly |
OMIM:615085 |
Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia |
ORPHA:295 |
Fanconi Anemia, Complementation Group T |
|
Anemia, Thrombocytopenia, Pancytopenia |
OMIM:616435 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Anemia, Thrombocytopenia |
OMIM:612925 |
Immunodeficiency 46 |
|
Failure to thrive, Anemia, Intermittent thrombocytopenia, Neutropenia |
OMIM:616740 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Nonspherocytic hemolytic anemia, Spontaneous hemolytic crises, Impaired neutrophil bactericidal a... |
OMIM:613470 |
Paroxysmal Cold Hemoglobinuria |
|
Autoimmune hemolytic anemia, Coombs-positive hemolytic anemia |
ORPHA:90035 |
Hydrocephalus, Congenital Communicating, 1 |
|
Ventriculomegaly, Communicating hydrocephalus |
OMIM:618667 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis |
OMIM:247800 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Hydrocephalus, Communicating hydrocephalus, Splenomegaly |
ORPHA:2969 |
Familial Thrombocytosis |
|
Chronic myelogenous leukemia, Splenomegaly, Thrombocytosis, Weight loss, Acute myeloid leukemia |
ORPHA:71493 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Acanthocytosis |
OMIM:604777 |
Hydrops Fetalis, Nonimmune |
|
Anemia |
OMIM:236750 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Aicardi-Goutieres Syndrome 4 |
|
Hydrocephalus, Splenomegaly, Hepatosplenomegaly, Ventriculomegaly, Pancytopenia, CSF lymphocytic ... |
OMIM:610333 |
Autoerythrocyte Sensitization Syndrome |
|
Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocytopenia, Abnormal erythrocyte mor... |
ORPHA:324636 |
Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Neutropenia, Small for gestational age, Persistence of hemoglo... |
ORPHA:124 |
Ciliary Dyskinesia, Primary, 1 |
|
Asplenia, Communicating hydrocephalus |
OMIM:244400 |
Sickle Cell Anemia |
|
Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Increased red cell sickling tendency |
OMIM:603903 |
Lcat Deficiency |
|
Hemolytic anemia |
ORPHA:650 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hemolytic anemia |
ORPHA:57 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor... |
OMIM:243150 |
Celiac Disease, Susceptibility To, 1 |
|
Failure to thrive, Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Weight loss |
OMIM:212750 |
Interstitial Lung And Liver Disease |
|
Thrombocytosis, Anemia, Failure to thrive |
OMIM:615486 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... |
OMIM:603909 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia, Small for gestational age |
ORPHA:621 |
Dk Phocomelia Syndrome |
|
Encephalocele, Thrombocytopenia |
OMIM:223340 |
Kasabach-Merritt Syndrome |
|
Leukopenia, Reticulocytosis, Neutropenia, Microangiopathic hemolytic anemia, Anemia, Thrombocytop... |
ORPHA:2330 |
Diamond-Blackfan Anemia 20 |
|
Anemia, Erythroid hypoplasia |
OMIM:618313 |
Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Failure to thrive, Hydrocephalus, Neutropenia, Macrocytic anem... |
ORPHA:2169 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia |
ORPHA:88 |
Chylomicron Retention Disease |
|
Failure to thrive, Acanthocytosis |
ORPHA:71 |
Cogan Syndrome |
|
Thrombocytosis, Anemia, Leukocytosis |
ORPHA:1467 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Lymphocytosis, Iron deficiency anemia, Thrombocytosis, Weight loss, Reduced natural killer cell c... |
OMIM:301074 |
Anemia, Sideroblastic, 1 |
|
Anemia of inadequate production, Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic ... |
OMIM:300751 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Thrombocytopenia, Splenomegaly |
ORPHA:169090 |
Poems Syndrome |
|
Polycythemia, Thrombocytosis, Weight loss |
ORPHA:2905 |
Triosephosphate Isomerase Deficiency |
|
Failure to thrive, Splenomegaly, Normocytic anemia, Macrocytic anemia, Hemolytic anemia, Chronic ... |
OMIM:615512 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Thrombocytosis, Failure to thrive, Leukocytosis, Hypochromic anemia |
OMIM:618213 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Choreoacanthocytosis |
|
Acanthocytosis |
OMIM:200150 |
Hypobetalipoproteinemia, Familial, 1 |
|
Acanthocytosis |
OMIM:615558 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... |
OMIM:619220 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia |
ORPHA:90038 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Hemolytic anemia, Autoimmune hemolytic ... |
OMIM:606367 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Colpocephaly, Ventriculomegaly, Communicating hydrocephalus |
OMIM:615219 |
Tempi Syndrome |
|
Polycythemia, Increased hematocrit |
ORPHA:284227 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukocytosis, Leukopenia, Thrombocytosis, Weight loss, Anemia |
ORPHA:20 |
Short Stature With Microcephaly And Distinctive Facies |
|
Anemia, Decreased body weight, Anisopoikilocytosis, Small for gestational age |
OMIM:615789 |
Formiminoglutamic Aciduria |
|
Megaloblastic anemia, Anemia |
ORPHA:51208 |
Beta-Ketothiolase Deficiency |
|
Thrombocytosis, Weight loss, Leukocytosis |
ORPHA:134 |
Cole-Carpenter Syndrome 1 |
|
Hydrocephalus, Communicating hydrocephalus |
OMIM:112240 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... |
ORPHA:231214 |
Hellp Syndrome |
|
Increased body weight, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Mic... |
ORPHA:244242 |
Chronic Intestinal Pseudoobstruction |
|
Abnormal platelet morphology |
ORPHA:2978 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus |
ORPHA:1861 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia |
OMIM:608184 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Communicating hydrocephalus |
OMIM:273730 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Anemia |
ORPHA:371 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus |
ORPHA:2184 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet aggregation, Macrot... |
ORPHA:274 |
Transcobalamin Ii Deficiency |
|
Failure to thrive, Macrocytic anemia, Pancytopenia, Neutropenia, Reticulocytopenia |
OMIM:275350 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Abcd Syndrome |
|
Polycythemia, Large for gestational age, Neonatal death |
OMIM:600501 |
Alpha-Mannosidosis, Infantile Form |
|
Hepatosplenomegaly, Communicating hydrocephalus, Pancytopenia |
ORPHA:309282 |
Diamond-Blackfan Anemia 1 |
|
Failure to thrive, Congenital hypoplastic anemia, Thrombocytosis, Neutropenia, Thrombocytopenia, ... |
OMIM:105650 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphopenia, Splenomegaly, Hepatosplenomegaly, Hemolytic anemia, Impaired oxidative burst |
OMIM:618935 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Failure to thrive, Microcytic anemia |
ORPHA:98791 |
Pericardial Effusion, Chronic |
|
Polycythemia |
OMIM:260900 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Failure to thrive, Splenomegaly, Hemolytic anemia, Neutropenia, Thrombocytopenia |
OMIM:308230 |
Common Variable Immunodeficiency |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Failure to thrive in in... |
ORPHA:1572 |
Hec Syndrome |
|
Communicating hydrocephalus |
ORPHA:2119 |
Hydrocephalus With Cerebellar Agenesis |
|
Hydrocephalus |
OMIM:307010 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia |
OMIM:616738 |
Copper Deficiency, Familial Benign |
|
Failure to thrive, Anemia |
OMIM:121270 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Lymphopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Leukopenia, Thrombocytosis, Pancytop... |
OMIM:615688 |
Krabbe Disease |
|
Failure to thrive, Hydrocephalus, Autoimmune thrombocytopenia, Increased CSF protein |
OMIM:245200 |
Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
ORPHA:2807 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells |
OMIM:619774 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
Myasthenia Gravis |
|
Hemolytic anemia, Pure red cell aplasia |
ORPHA:589 |
Orthostatic Hypotension 2 |
|
Anemia |
OMIM:618182 |
Lathosterolosis |
|
Myelomeningocele, Hepatosplenomegaly, Anisopoikilocytosis, Acanthocytosis, Schistocytosis, Increa... |
OMIM:607330 |
Bleeding Disorder, Platelet-Type, 17 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187900 |
Amme Complex |
|
Elliptocytosis |
OMIM:300194 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia |
ORPHA:529808 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis, Failure to thrive, Dilated fourth ventricle |
OMIM:212065 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein |
ORPHA:251912 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Decreased body weight, Acanthocytosis, Abnormal erythrocyte morphology |
ORPHA:96180 |
Mcleod Syndrome |
|
Acanthocytosis, Splenomegaly |
OMIM:300842 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus |
ORPHA:1064 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Dohle Bodies And Leukemia |
|
Leukocyte inclusion bodies, Anemia, Acute myeloid leukemia |
OMIM:223350 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Subependymal nodules, Ventriculomegaly, Communicating hydrocephalus |
ORPHA:25 |
Aregenerative Anemia |
|
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... |
ORPHA:101096 |
Lathosterolosis |
|
Failure to thrive, Anisopoikilocytosis, Abnormal platelet morphology, Meningocele, Thrombocytopenia |
ORPHA:46059 |
Hepatocellular Carcinoma |
|
Polycythemia, Thrombocytosis, Weight loss, Anemia, Thrombocytopenia |
ORPHA:88673 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Elevated hemoglobin A1c, Small for gestational age |
OMIM:619278 |
Trichohepatoenteric Syndrome 1 |
|
Failure to thrive, Small for gestational age, Splenomegaly, Increased mean platelet volume, Throm... |
OMIM:222470 |
Glycogen Storage Disease Xii |
|
Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Anemia, Normochromic anemia |
OMIM:611881 |
Immunodeficiency 23 |
|
Failure to thrive, Lymphopenia, Eosinophilia, Hemolytic anemia, Neutropenia |
OMIM:615816 |
Oslam Syndrome |
|
Anemia |
OMIM:165660 |
Syndromic Diarrhea |
|
Lymphopenia, Splenomegaly, Small for gestational age, Hypoplasia of the thymus, Increased mean pl... |
ORPHA:84064 |
Congenital Erythropoietic Porphyria |
|
Splenomegaly, Anisocytosis, Leukopenia, Hemolytic anemia, Poikilocytosis, Reticulocytosis, Thromb... |
ORPHA:79277 |
Catastrophic Antiphospholipid Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia, Coombs-positive hemolytic anemia |
ORPHA:464343 |
Shprintzen-Goldberg Syndrome |
|
Failure to thrive, Ventriculomegaly, Communicating hydrocephalus |
ORPHA:2462 |
Takenouchi-Kosaki Syndrome |
|
Increased mean platelet volume, Thrombocytopenia, Ventriculomegaly |
OMIM:616737 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Small for gestational age |
OMIM:618858 |
Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Hepatosplenomegaly, Hemolytic anemia, Weight loss, Anemia |
OMIM:619487 |
Idiopathic Hypereosinophilic Syndrome |
|
Failure to thrive, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Eosinop... |
ORPHA:3260 |
Osteopetrosis, Autosomal Recessive 1 |
|
Failure to thrive, Hydrocephalus, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:259700 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus |
ORPHA:2050 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Albers-Schönberg Osteopetrosis |
|
Anemia, Hydrocephalus, Abnormal leukocyte morphology |
ORPHA:53 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-positive hemolytic anemia, Lymph... |
ORPHA:3261 |
Immunodeficiency 64 |
|
Failure to thrive, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells... |
OMIM:618534 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Leukopenia, Reticulocytosis, Abnormal erythrocyte enzyme level, Hemolytic anemia, Pancytopenia, A... |
ORPHA:447 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Overweight |
OMIM:619769 |
Brucellosis |
|
Failure to thrive, Leukocytosis, Splenomegaly, Small for gestational age, Leukopenia, Thrombocyto... |
ORPHA:1304 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Obesity, Episodic hemolytic anemia |
ORPHA:251004 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Anisocytosis, Hepatosplenomegaly, A... |
OMIM:616860 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Failure to thrive, Decreased CD4:CD8 ratio, Splenomegaly |
OMIM:618495 |
Pgm3-Cdg |
|
Failure to thrive, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in prese... |
ORPHA:443811 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
Shwachman-Diamond Syndrome 1 |
|
Failure to thrive, Small for gestational age, Persistence of hemoglobin F, Pancytopenia, Neutrope... |
OMIM:260400 |
Immunodeficiency 31C |
|
Autoimmune hemolytic anemia, Lymphopenia |
OMIM:614162 |
Lymphoproliferative Syndrome 1 |
|
Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helpe... |
OMIM:613011 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Abetalipoproteinemia |
|
Anemia, Failure to thrive, Reticulocytosis, Acanthocytosis |
ORPHA:14 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus |
ORPHA:1780 |
Infantile Sialic Acid Storage Disease |
|
Failure to thrive, Hydrocephalus, Vacuolated lymphocytes, Splenomegaly |
OMIM:269920 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Elliptocytosis |
ORPHA:86818 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Gamma-Heavy Chain Disease |
|
Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmune hemolytic a... |
ORPHA:100026 |
Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:612783 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia, Colpocephaly, Ventriculomegaly |
ORPHA:261250 |
Pediatric Systemic Lupus Erythematosus |
|
Microangiopathic hemolytic anemia, Leukopenia, Thrombocytopenia, Lymphopenia |
ORPHA:93552 |
Edinburgh Malformation Syndrome |
|
Failure to thrive, Hydrocephalus |
OMIM:129850 |
Arthrogryposis Multiplex Congenita 5 |
|
Poikilocytosis, Normocytic anemia, Acanthocytosis |
OMIM:618947 |
Pearson Syndrome |
|
Increased CSF lactate, Neutropenia, Splenomegaly, Anemia, Small for gestational age, Hypoplastic ... |
ORPHA:699 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Elevated hemoglobin A1c, Small for gestational age |
OMIM:606176 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Leukopenia, Splenomegaly |
ORPHA:809 |
Fanconi Anemia, Complementation Group E |
|
Small for gestational age, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticul... |
OMIM:600901 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal reticulocyte morphology |
ORPHA:2522 |
Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612562 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Thrombocytopenia, Splenomegaly |
OMIM:263700 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... |
OMIM:619374 |
Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus, Abnormal mast cell morphology |
ORPHA:398189 |
Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Thrombocytopenia |
OMIM:231095 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... |
ORPHA:1959 |
Wiskott-Aldrich Syndrome |
|
Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormal platelet function... |
ORPHA:906 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Large for gestational age, Slender build, Ventriculomegaly, Communicating hydrocephalus |
ORPHA:457359 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Splenomegaly |
ORPHA:580 |
Fanconi Anemia, Complementation Group A |
|
Small for gestational age, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticul... |
OMIM:227650 |
Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... |
ORPHA:231222 |
Neuroleptic Malignant Syndrome |
|
Thrombocytosis, Thrombocytopenia, Leukocytosis |
ORPHA:94093 |
Thymic Aplasia |
|
Decreased proportion of naive T cells, Failure to thrive, Coombs-positive hemolytic anemia, Aplas... |
ORPHA:83471 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Leukemia, Ventriculomegaly |
OMIM:602501 |
Nijmegen Breakage Syndrome |
|
Cachexia, Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia |
ORPHA:647 |
Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly |
OMIM:600348 |
Thymoma |
|
Aplastic anemia, Imbalanced hemoglobin synthesis, Pure red cell aplasia, Weight loss, Leukemia |
ORPHA:99867 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Thrombocytopenia, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia |
OMIM:603585 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... |
ORPHA:231226 |
Diamond-Blackfan Anemia 10 |
|
Steroid-responsive anemia, Anemia, Reticulocytopenia, Macrocytic anemia |
OMIM:613309 |
Essential Thrombocythemia |
|
Abnormality of thrombocytes, Acute leukemia, Abnormal platelet morphology, Splenomegaly |
ORPHA:3318 |
Methylmalonic Acidemia With Homocystinuria |
|
Failure to thrive, Hydrocephalus |
ORPHA:26 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
HbH hemoglobin, Obesity, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:141750 |
1Q21.1 Microduplication Syndrome |
|
Failure to thrive, Hydrocephalus |
ORPHA:250994 |
Griscelli Syndrome |
|
Hydrocephalus, Splenomegaly, Leukopenia, Abnormality of neutrophils, Encephalocele, Thrombocytopenia |
ORPHA:381 |
Shwachman-Diamond Syndrome |
|
Increased mean corpuscular volume, Failure to thrive, Neutropenia, Leukopenia, Aplastic anemia, N... |
ORPHA:811 |
Osteootohepatoenteric Syndrome |
|
Anemia, Failure to thrive, Hydrocephalus, Weight loss |
OMIM:619377 |
Shigellosis |
|
Splenic abscess, Leukocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Failure to th... |
ORPHA:810 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of neutrophils, Hydrocephalus, Hypochromic anemia |
ORPHA:2720 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Mirage Syndrome |
|
Hydrocephalus, Decreased body weight, Lymphopenia, Leukopenia, Hypoplastic spleen, Anemia, Thromb... |
OMIM:617053 |
Pearson Marrow-Pancreas Syndrome |
|
Hypoplastic anemia, Failure to thrive, Neutropenia, Sideroblastic anemia, Small for gestational a... |
OMIM:557000 |
Aicardi-Goutieres Syndrome 7 |
|
Splenomegaly, Hemolytic anemia, Weight loss, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:615846 |
Nasu-Hakola Disease |
|
Hydrocephalus, Acute leukemia, Ventriculomegaly |
ORPHA:2770 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Increased mean platelet volume, Thrombocytopenia, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:487796 |
Fanconi Anemia, Complementation Group C |
|
Small for gestational age, Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticul... |
OMIM:227645 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90037 |
Diencephalic Syndrome |
|
Cachexia, Hydrocephalus, Decreased body weight |
ORPHA:1672 |
Epilepsy, Pyridoxine-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Purine Nucleoside Phosphorylase Deficiency |
|
Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegal... |
OMIM:613179 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia |
ORPHA:508542 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Failure to thrive, Hydrocephalus, Splenomegaly, Ventriculomegaly, Pancytopenia, Thrombocytopenia |
OMIM:614576 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, Autoimmune hemo... |
OMIM:301078 |
Osteopetrosis With Renal Tubular Acidosis |
|
Failure to thrive, Leukopenia, Elliptocytosis, Pancytopenia, Anemia, Thrombocytopenia |
ORPHA:2785 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Failure to thrive, Lymphopenia, Eosinophilia, Hepatosplenomegaly, Abnormal... |
ORPHA:331206 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hydrocephalus, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Hypo... |
OMIM:259720 |
Immunodeficiency 87 And Autoimmunity |
|
Lymphopenia, Small for gestational age, Thrombocytopenia, Hemolytic anemia, Decreased proportion ... |
OMIM:619573 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus |
OMIM:300884 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mild fetal ventriculomegaly, Communicating hydrocephalus |
OMIM:619841 |
Developmental And Epileptic Encephalopathy 49 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:617281 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Failure to thrive |
ORPHA:18 |
Leukocyte Adhesion Deficiency |
|
Leukocytosis, Polycythemia, Impaired neutrophil chemotaxis, Thrombocytosis, Impaired platelet agg... |
ORPHA:2968 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Wilson Disease |
|
Hemolytic anemia, Anemia, Thrombocytopenia, Splenomegaly |
OMIM:277900 |
Hepatoerythropoietic Porphyria |
|
Hemolytic anemia, Erythroid hyperplasia, Splenomegaly |
ORPHA:95159 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Acanthocytosis |
ORPHA:157850 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Anemia, Elliptocytosis |
OMIM:300990 |
Masa Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:303350 |
Immunodeficiency 97 With Autoinflammation |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... |
OMIM:619802 |
Holoprosencephaly 5 |
|
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilobar holoprosen... |
OMIM:609637 |
Glucagonoma |
|
Weight loss, Normochromic anemia, Acanthocytosis |
ORPHA:97280 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Hydrocephalus |
OMIM:300864 |
Fumarase Deficiency |
|
Choroid plexus cyst, Failure to thrive, Polycythemia |
OMIM:606812 |
Whipple Disease |
|
Anemia, Cachexia, Hydrocephalus, Splenomegaly |
ORPHA:3452 |
Fanconi Anemia, Complementation Group D2 |
|
Hydrocephalus, Neutropenia, Small for gestational age, Thrombocytopenia, Pancytopenia, Anemia, Le... |
OMIM:227646 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytope... |
ORPHA:572 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Megaloblastic anemia, Hydrocephalus, Failure to thrive, Neutropenia, Thrombocytopenia |
OMIM:277400 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia |
OMIM:610163 |
Temple Syndrome |
|
Hydrocephalus, Overweight, Truncal obesity, Small for gestational age |
OMIM:616222 |
Marburg Hemorrhagic Fever |
|
Lymphopenia, Leukopenia, Abnormal lymphocyte morphology, Neutrophilia in presence of infection, R... |
ORPHA:99826 |
Dandy-Walker Syndrome |
|
Hydrocephalus, Dilated fourth ventricle |
OMIM:220200 |
Lead Poisoning |
|
Anemia, Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Small for gestational age |
ORPHA:330015 |
Osteopetrosis, Autosomal Recessive 7 |
|
Anemia, Hydrocephalus, Splenomegaly |
OMIM:612301 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia |
ORPHA:90036 |
Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology... |
ORPHA:760 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Failure to thrive, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, ... |
ORPHA:911 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Gaisböck Syndrome |
|
Increased hematocrit, Elevated plasma cell count, Increased mean corpuscular hemoglobin concentra... |
ORPHA:90041 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
Fanconi Anemia, Complementation Group B |
|
Hydrocephalus, Thrombocytopenia, Aplastic anemia, Ventriculomegaly |
OMIM:300514 |
Hypermanganesemia With Dystonia 1 |
|
Polycythemia |
OMIM:613280 |
Pettigrew Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:304340 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibo... |
OMIM:615952 |
Fried Syndrome |
|
Hydrocephalus |
ORPHA:85335 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Obesity, Hydrocephalus, Ventriculomegaly, Splenomegaly |
OMIM:615630 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Thrombocytopenia, Leukocytosis |
ORPHA:544482 |
Adams-Oliver Syndrome |
|
Failure to thrive, Hydrocephalus, Leukopenia, Encephalocele, Thrombocytopenia |
ORPHA:974 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Splenomegaly |
ORPHA:90033 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Autoimmune hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Splenomegaly |
OMIM:616100 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Failure to thrive, Hypereosinophilia, Splenomegaly |
OMIM:617388 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Anemia of inadequate production, Macrocytic anemia, Congenital hypoplastic anemia |
OMIM:105600 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613154 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus, Small for gestational age |
OMIM:618302 |
Immunodeficiency 17 |
|
Failure to thrive, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Abnormal B ce... |
OMIM:615607 |
B4Galt1-Cdg |
|
Hydrocephalus, Small for gestational age, Dandy-Walker malformation, Splenomegaly |
ORPHA:79332 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus |
OMIM:236660 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Central Precocious Puberty |
|
Increased body weight, Hydrocephalus, Obesity |
ORPHA:759 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
Biemond Syndrome Type 2 |
|
Obesity, Hydrocephalus |
ORPHA:141333 |
Sarcoidosis |
|
Abnormality of the cerebrospinal fluid, Eosinophilia, Leukopenia, Hemolytic anemia, Weight loss, ... |
ORPHA:797 |
Doors Syndrome |
|
Thrombocytosis, Spina bifida occulta, Arrhinencephaly, Dandy-Walker malformation |
ORPHA:79500 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Autoimmune hemolytic anemia, Splenomegaly |
OMIM:619183 |
Achondroplasia |
|
Hydrocephalus |
OMIM:100800 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Leukocytosis, Hydrocephalus, Increased CSF lactate, Hyperglycorrhachia |
ORPHA:90065 |
Congenital Hydrocephalus |
|
Hydrocephalus, Colpocephaly, Ventriculomegaly |
ORPHA:2185 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Lymphopenia, Splenomegaly, Aplasia of the thymus, Severe B lymphocytopenia, Eo... |
OMIM:102700 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Alexander Disease |
|