Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Anemia, Steroid-responsive anemia |
OMIM:618312 |
Diamond-Blackfan Anemia-Like |
|
Pure red cell aplasia, Steroid-responsive anemia |
OMIM:617911 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Iron Overload In Africa |
|
Elevated transferrin saturation |
OMIM:601195 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Dermatitis Herpetiformis, Familial |
|
Pruritus |
OMIM:601230 |
Pruritus, Hereditary Localized |
|
Pruritus |
OMIM:177100 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:615193 |
Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Anisopoikilocytosis, Myelofibrosis, Thrombocytopenia, Splenomegaly |
OMIM:617441 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, ... |
OMIM:187800 |
Diamond-Blackfan Anemia 13 |
|
Normocytic anemia, Elevated red cell adenosine deaminase level |
OMIM:615909 |
Essential Thrombocythemia |
|
Abnormality of thrombocytes, Increased megakaryocyte count, Myelofibrosis, Abnormal platelet morp... |
ORPHA:3318 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... |
OMIM:615285 |
Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Bone m... |
OMIM:231095 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619271 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies |
OMIM:140700 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Myelofibrosis, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis,... |
OMIM:301078 |
Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
Lichen Amyloidosis |
|
Pruritus |
ORPHA:49804 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Acute myelomonocytic leukemia, Abnormal megakaryocyte morphology, Lymphoc... |
ORPHA:86843 |
Hemoglobin H Disease |
|
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... |
OMIM:314050 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Myelofibrosis, Impaired collagen-induced platelet aggregation,... |
OMIM:139090 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Decreased mean corpuscular volume, Anemia, Sideroblastic anemia, Hypochromia |
OMIM:205950 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormality of thrombocytes, Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocyt... |
OMIM:612840 |
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 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... |
OMIM:615631 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... |
OMIM:133180 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor, Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Bleeding Disorder, Platelet-Type, 17 |
|
Impaired epinephrine-induced platelet aggregation, Myelofibrosis, Macrothrombocytopenia, Increase... |
OMIM:187900 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Abnormal megakaryocyte morphology, Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombo... |
ORPHA:67044 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... |
ORPHA:766 |
Hemochromatosis, Type 5 |
|
Abnormal circulating copper concentration, Elevated transferrin saturation, Abnormal circulating ... |
OMIM:615517 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
Amegakaryocytic Thrombocytopenia, Congenital |
|
Amegakaryocytic thrombocytopenia, Thrombocytopenia, Pancytopenia |
OMIM:604498 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Decreased skull ossification |
ORPHA:3319 |
Thrombocytopenia 6 |
|
Bone marrow hypercellularity, Thrombocytopenia, Osteoporosis, Myelofibrosis |
OMIM:616937 |
Primary Myelofibrosis |
|
Anemia, Abnormal megakaryocyte morphology, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Bone... |
ORPHA:824 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly |
OMIM:312500 |
Chromosome 5Q Deletion Syndrome |
|
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia |
OMIM:153550 |
Immunodeficiency 18 |
|
Recurrent respiratory infections, Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Castleman Disease |
|
Anemia, Jaundice, Generalized lymphadenopathy, Myelofibrosis, Decreased mean corpuscular volume, ... |
ORPHA:160 |
Thrombocytopenia 7 |
|
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... |
OMIM:619130 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Leu... |
OMIM:155100 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Osteopetrosis, Autosomal Recessive 2 |
|
Anemia, Osteomyelitis, Recurrent fractures, Osteopetrosis, Pancytopenia, Hepatosplenomegaly, Decr... |
OMIM:259710 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia |
OMIM:615593 |
Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Elevated transferrin saturation, Increased circulati... |
OMIM:620121 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Immunodeficiency 24 |
|
Respiratory tract infection, Reduced proportion of mucosal-associated invariant T cells, Decrease... |
OMIM:615897 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hypersplenism, Osteopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:610539 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia |
ORPHA:2802 |
Beta-Thalassemia Intermedia |
|
Hepatocellular carcinoma, Hepatosplenomegaly, Hepatomegaly, Decreased liver function, Splenomegal... |
ORPHA:231222 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Increased mean platelet volume, Impa... |
OMIM:617443 |
Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Eosinophilia, Familial |
|
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia |
OMIM:131400 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Immunodeficiency 50 |
|
Neutropenia, Recurrent respiratory infections, Lymphopenia, Decreased circulating antibody level |
OMIM:300988 |
Bernard-Soulier Syndrome |
|
Thrombocytopenia, Macrothrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant ... |
OMIM:231200 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Bone marrow hypocellularity, Hepatomegaly, Hypochromic anemia, Thrombocyt... |
ORPHA:75564 |
Hashimoto Thyroiditis |
|
Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Poikilocytosis, Decreased mean corpuscular volume, Hepatomegaly, Elevated hepatic iron co... |
OMIM:615234 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Myelofibrosis |
|
Splenomegaly, Myelofibrosis, Myeloproliferative disorder |
OMIM:254450 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... |
OMIM:237800 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Glutathione Peroxidase Deficiency |
|
Compensated hemolytic anemia, Heinz bodies |
OMIM:614164 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
Spastic Paraplegia And Evans Syndrome |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia |
OMIM:601608 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
Nephronophthisis |
|
Anemia |
ORPHA:655 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Linear Atrophoderma Of Moulin |
|
Pruritus, Inflammatory abnormality of the skin |
ORPHA:140933 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Thrombocytopenia, Macrothrombocytopenia |
OMIM:616176 |
Immunodeficiency 95 |
|
Increased circulating IgG3 level, Respiratory distress, Lymphopenia, Decreased circulating IgG3 l... |
OMIM:619773 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Complement Component 8 Deficiency, Type I |
|
Systemic lupus erythematosus |
OMIM:613790 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617907 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Hepatomegaly, Thrombocytopenia, Osteopetrosis, Splenomegaly |
OMIM:615085 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Jaund... |
OMIM:616689 |
Slc35A1-Cdg |
|
Thrombocytopenia, Neutropenia, Abnormal platelet granules, Giant platelets |
ORPHA:238459 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Genetic Hyperferritinemia Without Iron Overload |
|
Abnormal serum iron concentration, Abnormal transferrin saturation, Increased circulating ferriti... |
ORPHA:254704 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po... |
OMIM:224120 |
Myh9-Related Disease |
|
Congenital thrombocytopenia, Neutrophil inclusion bodies, Increased mean platelet volume, Giant p... |
ORPHA:182050 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Splenomegaly |
ORPHA:1802 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutropenia,... |
OMIM:603552 |
Acute Myelomonocytic Leukemia |
|
Anemia, Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia |
ORPHA:517 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Systemic Lupus Erythematosus 16 |
|
Perinuclear antineutrophil antibody positivity, Systemic lupus erythematosus, Antinuclear antibod... |
OMIM:614420 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Hepatomegaly, Thrombocytopenia, Splenomegaly |
OMIM:607616 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity |
OMIM:615715 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... |
ORPHA:444463 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Mu-Heavy Chain Disease |
|
Anemia, Splenomegaly, Abnormal B cell count, Osteolysis, Lymphadenopathy, Hepatomegaly, Osteoporo... |
ORPHA:100024 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Bone marrow hypocell... |
OMIM:300835 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... |
OMIM:613673 |
Idiopathic Hypereosinophilic Syndrome |
|
Anemia, Arthritis, Neutrophilia, Pancreatitis, Generalized lymphadenopathy, Myelofibrosis, Hepato... |
ORPHA:3260 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Neonatal death, Hepatosplenomegaly |
OMIM:273680 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Hereditary Spherocytosis |
|
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolyti... |
ORPHA:822 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia, Pallor |
ORPHA:228312 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Cirrhosis |
OMIM:269600 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Refractory Anemia |
|
Neutropenia, Normocytic anemia, Erythroid hypoplasia, Bone marrow hypocellularity, Macrocytic ane... |
ORPHA:98826 |
Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Abnormality of the liver, Hepatomegaly |
ORPHA:1980 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:611783 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemic pallor, Anemia of ... |
OMIM:300751 |
Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Lymphopenia, ... |
OMIM:615401 |
Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Recurrent fractures, Increased bone mineral density, Reticulocytosis, Hepatomegaly, Throm... |
OMIM:611490 |
Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly |
OMIM:615010 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia, Osteoporosis |
OMIM:613606 |
Polycythemia Vera |
|
Myelofibrosis, Hepatomegaly, Portal vein thrombosis, Portal hypertension, Acute leukemia, Splenom... |
ORPHA:729 |
Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Splenomegaly, Reticulocytosis |
OMIM:179700 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia, Elevated hepatic transaminase |
OMIM:189800 |
Hereditary Elliptocytosis |
|
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Jaundice, Reticulo... |
ORPHA:288 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem... |
OMIM:153670 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anis... |
OMIM:300908 |
Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Hepatic failure, Osteopetrosis, Increased bone mineral density, Ascites, Pancytopenia, He... |
OMIM:259720 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... |
OMIM:202700 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume |
OMIM:252270 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia |
OMIM:166910 |
Congenital Atransferrinemia |
|
Arthritis, Anemia, Abnormality of the pancreas |
ORPHA:1195 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Intermittent jaundice, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... |
ORPHA:3203 |
Chromosome 14Q32 Duplication Syndrome, 700-Kb |
|
Acute myeloid leukemia, Myelofibrosis, Chronic myelomonocytic leukemia |
OMIM:616604 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:614082 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
Hyperostosis Corticalis Generalisata |
|
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis |
ORPHA:3416 |
Beta-Thalassemia Major |
|
Hepatic fibrosis, Cirrhosis, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased ... |
ORPHA:231214 |
Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Dehydrated Hereditary Stomatocytosis |
|
Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Congenital hemolytic ... |
ORPHA:3202 |
Osteopetrosis, Autosomal Recessive 3 |
|
Anemia, Hepatosplenomegaly, Diaphyseal sclerosis, Extramedullary hematopoiesis, Cranial hyperosto... |
OMIM:259730 |
Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Cirrhosis, Hypersplenism, Reduced hemoglobin A, Jaundice, Decreased mean corpus... |
ORPHA:231226 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Pn... |
OMIM:247800 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
Beta-Thalassemia |
|
Anemia, Hepatitis, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Abnormal hemoglobin, Splenomeg... |
ORPHA:848 |
Immunodeficiency 69 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly |
OMIM:618963 |
Gnathodiaphyseal Dysplasia |
|
Thickened cortex of long bones, Mandibular osteomyelitis, Osteopenia, Recurrent fractures |
ORPHA:53697 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Anemia, Hypochromia, Erythroid hyperplasia |
OMIM:206100 |
Intermediate Osteopetrosis |
|
Increased susceptibility to fractures, Anemia, Osteomyelitis, Recurrent fractures, Generalized os... |
ORPHA:210110 |
Cryohydrocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Increased mean corpusc... |
OMIM:619041 |
Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg... |
ORPHA:846 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis, Poikilocytosis |
OMIM:300367 |
Iron-Refractory Iron Deficiency Anemia |
|
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis |
OMIM:206200 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Elevated hepatic transaminase, Hepatosplenomegaly |
OMIM:610329 |
Fetal Parvovirus Syndrome |
|
Ascites, Anemia, Thrombocytopenia |
ORPHA:295 |
Platelet Signal Processing Defect |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet a... |
OMIM:173590 |
Anemia, Autoimmune Hemolytic |
|
Autoimmune hemolytic anemia |
OMIM:205700 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis |
OMIM:616649 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly, Hepatomegaly |
OMIM:606445 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a... |
OMIM:159550 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Splenomegaly |
OMIM:613101 |
Gamma-Heavy Chain Disease |
|
Anemia, Rheumatoid arthritis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Osteolysi... |
ORPHA:100026 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Decreased proporti... |
OMIM:617514 |
Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:612653 |
Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly |
OMIM:224100 |
Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Granulocytopenia, Anemia, Hemophagocytosis, Hepatosplenomegaly |
OMIM:608898 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Spherocytosis |
OMIM:182900 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Autoimmunity |
OMIM:216950 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatomegaly, Splenomegaly |
OMIM:185000 |
Protoporphyria, Erythropoietic, 2 |
|
Iron deficiency anemia |
OMIM:618015 |
Babesiosis |
|
Leukopenia, Hepatic failure, Hemolytic anemia, Jaundice, Limitation of joint mobility, Hepatomega... |
ORPHA:108 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicu... |
OMIM:614470 |
Schnitzler Syndrome |
|
Anemia, Increased bone mineral density, Arthritis, Lymphadenopathy, Leukocytosis, Hepatomegaly, S... |
ORPHA:37748 |
Congenital Toxoplasmosis |
|
Anemia, Ascites, Jaundice, Elevated hepatic transaminase, Lymphadenopathy, Hepatomegaly, Cardiome... |
ORPHA:858 |
Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Sitosterolemia 1 |
|
Stomatocytosis, Anemia, Arthritis, Reticulocytosis, Impaired platelet aggregation, Episodic hemol... |
OMIM:210250 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Hepatomegaly, Impaired oxidative burst, Thromb... |
OMIM:226990 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatic failure, Jaundice, Elevated hepatic transaminase, Rickets, Hepatic steatosis, Giant cell ... |
ORPHA:79303 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Elevated hepatic transaminase, Poikilocytosis, Abnormal erythrocyte morphology, Anisocyto... |
ORPHA:98870 |
Acute Erythroid Leukemia |
|
Erythroid hypoplasia, Leukopenia, Anemia, Pancytopenia |
ORPHA:318 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron |
OMIM:603358 |
Aggressive Systemic Mastocytosis |
|
Anemia, Decreased liver function, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Pathologic fra... |
ORPHA:98850 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Rosaï-Dorfman Disease |
|
Osteolysis, Anemia, Lymphadenopathy |
ORPHA:158014 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Leishmaniasis |
|
Leukopenia, Anemia, Abnormal macrophage morphology, Elevated hepatic transaminase, Pancytopenia, ... |
ORPHA:507 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Elevated circulating alanine aminotransferase concentration, Joint laxity, Elevated circulating a... |
OMIM:614727 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa... |
ORPHA:35858 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anemia, Dysplastic erythropoesis, Reticulocytopenia, Anisopoikilocytosis, Elevated hepatic transa... |
ORPHA:300298 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia |
ORPHA:32 |
Hyperlysinemia, Type I |
|
Anemia |
OMIM:238700 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
Diamond-Blackfan Anemia 20 |
|
Anemia, Erythroid hypoplasia |
OMIM:618313 |
Sickle Cell Disease |
|
Cholelithiasis, Splenomegaly, Hemolytic anemia, Target cells, Splenic infarction, Jaundice, Leuko... |
OMIM:603903 |
Osteopetrosis, Autosomal Dominant 3 |
|
Anemia, Recurrent fractures, Osteopenia, Hepatomegaly, Splenomegaly |
OMIM:618107 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hepatic failure, Acute lymphob... |
ORPHA:158057 |
Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... |
OMIM:187950 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
C1Q Deficiency 1 |
|
Systemic lupus erythematosus, Autoimmunity |
OMIM:613652 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Thrombocytopenia, Neutropenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
Elliptocytosis 1 |
|
Elliptocytosis, Splenomegaly, Hemolytic anemia, Jaundice |
OMIM:611804 |
Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia, Perianal abscess |
OMIM:619437 |
Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:616435 |
Specific Granule Deficiency 2 |
|
Anemia, Bone marrow maturation arrest, Absent neutrophil specific granules, Osteopenia, Thrombocy... |
OMIM:617475 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Isolated Agammaglobulinemia |
|
Anemia, Arthritis, Abnormality of the lymphatic system, Abnormality of neutrophils, Recurrent cut... |
ORPHA:229717 |
Wt Limb-Blood Syndrome |
|
Radioulnar synostosis, Pancytopenia, Joint contracture of the 5th finger, Thrombocytopenia, Leuke... |
OMIM:194350 |
Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Pancytopenia, Hepatosplenomegaly, Hepatomegaly, Thrombocytopenia, ... |
OMIM:610333 |
Transaldolase Deficiency |
|
Cirrhosis, Anemia, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:101028 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph... |
OMIM:613011 |
Fetal Gaucher Disease |
|
Flexion contracture, Pancytopenia, Arthrogryposis multiplex congenita, Thrombocytopenia, Hepatome... |
ORPHA:85212 |
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:230450 |
Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anemia, Pancreatitis, Hepatomegaly, Thrombocytopenia, Neutropenia, Splenomegaly |
ORPHA:79312 |
Megaloblastic Anemia, Folate-Responsive |
|
Episodic hemolytic anemia, Schistocytosis, Hypersegmentation of neutrophil nuclei, Folate-respons... |
OMIM:601775 |
Fgfr2-Related Bent Bone Dysplasia |
|
Coronal craniosynostosis, Hepatosplenomegaly, Incomplete ossification of pubis, Osteopenia, Decre... |
ORPHA:313855 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity |
OMIM:618116 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Panhypogammaglobulinemia, Recurrent respiratory infections, Ag... |
OMIM:615214 |
Ovalocytosis, Southeast Asian |
|
Elliptocytosis, Hemolytic anemia |
OMIM:166900 |
Felty Syndrome |
|
Anemia, Arthritis, Synovitis, Limitation of joint mobility, Osteolysis, Lymphadenopathy, Bone mar... |
ORPHA:47612 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Cirrhosis, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Complement Component C1S Deficiency |
|
Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration |
|
Acanthocytosis |
OMIM:607236 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Leukopenia, Acute myeloid leukemia, Abnormal megakaryocyte morphology, Abnormality of neutrophil ... |
ORPHA:86841 |
Gaucher Disease Type 1 |
|
Leukopenia, Anemia, Cirrhosis, Hypersplenism, Increased bone mineral density, Pancytopenia, Bilia... |
ORPHA:77259 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Abnormal platelet function, Pancyt... |
ORPHA:2585 |
X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly, Pallor |
ORPHA:75563 |
Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope... |
OMIM:169400 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Pyropoikilocytosis, Hereditary |
|
Elliptocytosis, Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis |
OMIM:266140 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Congenital thrombocytopenia, Radioulnar synostosis, Limited pronation/supination of forea... |
OMIM:616738 |
Chilblain Lupus |
|
Pruritis on hand, Malar rash, Inflammatory abnormality of the skin, Discoid lupus rash, Skin rash... |
ORPHA:90280 |
Nephrotic Syndrome, Type 7 |
|
Thrombocytopenia, Hemolytic anemia |
OMIM:615008 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Rh Deficiency Syndrome |
|
Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatosplenomegaly, Anisocytosis, Ma... |
ORPHA:71275 |
Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly |
OMIM:616050 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anemia, Neutropenia, Anisopoikilocytosis |
OMIM:619835 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Hypersplenism... |
ORPHA:64743 |
Asplenia, Isolated Congenital |
|
Asplenia, Howell-Jolly bodies, Thrombocytosis |
OMIM:271400 |
Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
X-Linked Severe Congenital Neutropenia |
|
Neutropenia, Monocytopenia |
ORPHA:86788 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Recurrent bronchopulmonary infections, Neutropenia, Decreased circulating total IgM |
OMIM:610798 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Recurrent respiratory infections, T lymphocytopenia, B lymphocytopenia, Decreased circulating IgG... |
OMIM:233650 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Decreased liver function, Thrombocytopenia, Sideroblastic anemia |
OMIM:617021 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Absent isohemagglutinin level, Recurrent bronchitis, Absent circulati... |
OMIM:613501 |
Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Osteomyelitis, Calvarial osteosclerosis, Increased bone mineral density, Pancytopenia, Pa... |
OMIM:259700 |
Alpha-Heavy Chain Disease |
|
Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:100025 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Anemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly |
OMIM:613313 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Leukopenia, Anemia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:619151 |
Elliptocytosis 3 |
|
Intermittent jaundice, Elliptocytosis, Decreased mean corpuscular volume, Chronic hemolytic anemi... |
OMIM:617948 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Exocrine pancreatic insufficiency, Jaundice, Osteopenia, Hepatomegaly, Calvarial hyperostosis, An... |
OMIM:612714 |
Mcleod Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:300842 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia |
OMIM:243320 |
Diffuse Neonatal Hemangiomatosis |
|
Ascites, Anemia, Thrombocytopenia, Hepatomegaly |
ORPHA:2123 |
Lysosomal Acid Lipase Deficiency |
|
Leukopenia, Anemia, Hepatic fibrosis, Cirrhosis, Periportal fibrosis, Increased hepatic echogenic... |
OMIM:278000 |
Neonatal Lupus Erythematosus |
|
Anemia, Hepatic failure, Abnormality of the liver, Neutropenia, Hemolytic anemia, Elevated hepati... |
ORPHA:398124 |
Wilson Disease |
|
Anemia, Cirrhosis, Hepatitis, Arthritis, Jaundice, Elevated hepatic transaminase, Pathologic frac... |
ORPHA:905 |
Immunodeficiency 13 |
|
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Bronchiectasis, Recurrent sinusiti... |
OMIM:615518 |
Immunodeficiency 110 With Lymphoproliferation |
|
Neutropenia, Lymphopenia |
OMIM:614868 |
Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Elevated circulating alanine aminotransferase concent... |
ORPHA:158061 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Abnormality of thrombocytes, Asplenia, Anemia |
ORPHA:3204 |
Gaucher Disease, Type Iii |
|
Thrombocytopenia, Splenomegaly, Pancytopenia, Hepatomegaly |
OMIM:231000 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Microvesicular hepatic steatosis, Hemolytic anemia, Hepatocellular necrosis, Elliptocytosis, Reti... |
OMIM:618278 |
Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Megaloblastic bone marrow, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia |
OMIM:301083 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Orotic Aciduria |
|
Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Folate-unresponsive meg... |
OMIM:258900 |
Rhabdoid Tumor |
|
Thrombocytopenia, Lymphadenopathy, Anemia, Neoplasm of the liver |
ORPHA:69077 |
Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Sideroblastic anemia, Megaloblastic anemia, Neutropenia |
OMIM:598500 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Elliptocytosis, Poikilocytosis, Decreased mean corpuscular volume, Anisocytosis |
OMIM:616959 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Hepatomegaly, Thrombocytopenia, Neutropenia, Pancreatitis |
ORPHA:289916 |
Immunodeficiency 27A |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Salmonella osteomyelit... |
OMIM:209950 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... |
OMIM:619220 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Leukopenia, Chronic bronchitis, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neu... |
OMIM:618986 |
Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Hydrops Fetalis, Nonimmune |
|
Anemia |
OMIM:236750 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating total IgM, Recurrent respiratory infections, Recurrent sinusitis, Absent ci... |
OMIM:619707 |
Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
Diamond-Blackfan Anemia 12 |
|
Elevated red cell adenosine deaminase level, Macrocytic anemia, Reticulocytopenia, Normochromic a... |
OMIM:615550 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Bone marrow hypocellularity, Increa... |
OMIM:618849 |
Sickle Cell Anemia |
|
Osteomyelitis, Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Pigment gallstones... |
ORPHA:232 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Increased susceptibility to fractures, Myeloid leukemia, Increased basoph... |
ORPHA:98849 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Increased B cell count, Coombs-positive hemolytic anemia, ... |
OMIM:603909 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Rheumatoid factor positive, Pruritus, Rheumatoid arthritis, Inflammatory abnormality of the skin |
ORPHA:79099 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatic failure, Fulminant hepatitis, Lymphocytosis, Pancytopenia, Lymphadenopathy, Thrombocytope... |
OMIM:308240 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Os... |
OMIM:614172 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity |
OMIM:617243 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:612126 |
Immunodeficiency 104 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly |
OMIM:608971 |
Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia, Hepatic hemangioma |
ORPHA:141179 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Thrombocytopenia, Hemolytic anemia, Lymphopenia |
OMIM:616744 |
Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia, Neonatal death, Camptodactyly, Stillbirth |
OMIM:619751 |
Lupus Erythematosus Tumidus |
|
Deep dermal perivascular inflammatory infiltrate, Autoimmune antibody positivity, Anti-dsDNA anti... |
ORPHA:90283 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Sideroblastic anemia, Hypochromic microcytic anemia, Schistocytosis, Splenomegaly |
OMIM:616084 |
Tufted Angioma |
|
Anemia, Thrombocytopenia, Megakaryocytopenia |
ORPHA:1063 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Bronchiectasis, Increased proportion of transitional B cells, Decreased circul... |
OMIM:615513 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Abnormal pleura morphology, Lymphopenia, Eosinophilia |
ORPHA:2582 |
Congenital Rubella Syndrome |
|
Anemia, Jaundice, Hepatomegaly, Thrombocytopenia, Splenomegaly |
ORPHA:290 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Decreased circulating total IgM, Chronic sinusitis, Recurrent pneumon... |
OMIM:613502 |
Developmental And Epileptic Encephalopathy 50 |
|
Anemia, Schistocytosis, Anisopoikilocytosis, Acanthocytosis |
OMIM:616457 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Recurrent bronchopulmonary infections, Neutropenia |
ORPHA:90023 |
Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Pallor, Pericarditis, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Fibrodysplasia Ossificans Progressiva |
|
Anemia, Ectopic ossification in ligament tissue, Synostosis of joints, Limitation of joint mobili... |
ORPHA:337 |
Progressive Familial Intrahepatic Cholestasis |
|
Abnormality of thrombocytes, Jaundice, Cholestasis, Hepatomegaly, Splenomegaly, Reduced bone mine... |
ORPHA:172 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Cholelithiasis, Nonspherocytic hemol... |
OMIM:235700 |
Abetalipoproteinemia |
|
Acanthocytosis |
OMIM:200100 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Anemia, Macrocytic anemia, Hepatomegaly, Thrombocytopenia, Pancreatitis |
ORPHA:27 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Prolonged neonatal jaundice, Jaundice, Microangiopathic hemolytic anemia, Reticulocytosis, Schist... |
OMIM:274150 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia, Recurrent respiratory infections |
OMIM:616022 |
Tularemia |
|
Anemia, Brain abscess, Abnormal nasopharyngeal adenoid morphology, Cutaneous abscess, Lymphadenop... |
ORPHA:3392 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Van Buchem Disease |
|
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis |
OMIM:239100 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... |
OMIM:150550 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Anemia |
OMIM:610090 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Anemia, Myeloid leukemia, Cirrhosis, Pancytopenia, Osteopenia, Bone marrow hypocellularity, Media... |
OMIM:614742 |
Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Pallor |
ORPHA:90064 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
Hemochromatosis, Type 3 |
|
Anemia, Cirrhosis, Arthritis, Elevated hepatic transaminase, Lymphopenia, Neutropenia |
OMIM:604250 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Nodular regenerative hyperplasia of liver, Elevated hepatic transaminase, Hepatosplenomegaly, Bon... |
ORPHA:210136 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... |
OMIM:601859 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Splenomegaly |
ORPHA:158029 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia, Recurrent streptococcus pneumoniae infections |
ORPHA:70592 |
Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
Rh-Null, Regulator Type |
|
Stomatocytosis, Jaundice, Hemolytic anemia |
OMIM:268150 |
Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia, Hepatic hemangioma |
ORPHA:141184 |
Alopecia Areata 1 |
|
Autoimmunity |
OMIM:104000 |
Gaucher Disease, Type I |
|
Anemia, Hypersplenism, Pancytopenia, Hepatomegaly, Thrombocytopenia, Pathologic fracture, Splenom... |
OMIM:230800 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Septic arthritis, Megaloblastic anemia, Lymphopenia, Pancytopenia, Thrombocytosis, Macrocytic ane... |
OMIM:617780 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly |
OMIM:619164 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... |
OMIM:619375 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen... |
OMIM:619846 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Leukocytosis, Myeloproli... |
ORPHA:3226 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Recurrent upper respiratory tract infections, T lymphocytopenia, Abnormally low T cell... |
OMIM:618806 |
Short Stature With Microcephaly And Distinctive Facies |
|
Anisopoikilocytosis, Osteopenia, Anemia |
OMIM:615789 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating total IgM, B lymphocytopenia, Neutrophilia, Recurrent sinusitis, Recurrent ... |
OMIM:619281 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Stomatocytosis, Hemolytic anemia, Jaundice, Hepatomegaly, Splenomegaly |
OMIM:608885 |
Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... |
ORPHA:101096 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Ventricular septal defect, Atrial septal defect, Pallor, Thrombocytopenia |
ORPHA:49827 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia |
OMIM:618660 |
Systemic Lupus Erythematosus 17 |
|
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
Indolent Systemic Mastocytosis |
|
Splenomegaly, Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomega... |
ORPHA:98848 |
Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Elevated hepatic transaminas... |
OMIM:619463 |
Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones |
ORPHA:564003 |
Ollier Disease |
|
Osteolysis, Anemia, Lymphangioma, Joint stiffness |
ORPHA:296 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Elevated circulating alanine aminotransferase concentration, Arthritis, G... |
OMIM:615559 |
Sclerosteosis |
|
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology |
ORPHA:3152 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Erythroid hyperplasia, Reticulocytosis, Pallor, Chronic hemolytic anemia, Decreased hemoglobin co... |
OMIM:266200 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Jaundice, Pancytopenia, Hepatomegaly, Increased mean corpuscular volume, Th... |
OMIM:613839 |
Potocki-Shaffer Syndrome |
|
Anemia, Decreased skull ossification |
ORPHA:52022 |
Elliptocytosis 2 |
|
Elliptocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:130600 |
Tyrosinemia Type 1 |
|
Rickets of the lower limbs, Hepatocellular carcinoma, Hepatomegaly, Acute hepatic failure, Spleno... |
ORPHA:882 |
Caffey Disease |
|
Joint hypermobility, Cortical irregularity, Subperiosteal bone formation, Calvarial hyperostosis,... |
OMIM:114000 |
Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E... |
OMIM:603554 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Neutropenia, Macrocytic anemia, Reticulocytopenia |
OMIM:612527 |
Immunodeficiency 102 |
|
Bronchiectasis, Recurrent sinusitis, Decreased proportion of CD4-positive helper T cells, Partial... |
OMIM:301082 |
Transaldolase Deficiency |
|
Anemia, Hepatic fibrosis, Cirrhosis, Pancytopenia, Hepatosplenomegaly, Micronodular cirrhosis, He... |
OMIM:606003 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
3-Methylglutaconic Aciduria Type 4 |
|
Decreased liver function, Thrombocytopenia |
ORPHA:67048 |
Congenital Erythropoietic Porphyria |
|
Leukopenia, Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosi... |
ORPHA:79277 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal mean corpuscular volume, Dysplastic granulopoesis, Bone marrow h... |
ORPHA:86839 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Knee flexion contracture, Sterile abscess, Arthritis, Elbow flexion contracture, Pancytopenia, He... |
OMIM:604416 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia |
OMIM:267500 |
Mast Cell Sarcoma |
|
Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Hepatic failure, Jaundice, Elevated hepatic transaminase, Portal fibrosis, Hepa... |
OMIM:616278 |
Propionic Acidemia |
|
Anemia, Pancreatitis, Pancytopenia, Hepatomegaly, Thrombocytopenia, Neutropenia, Osteoporosis |
OMIM:606054 |
Majeed Syndrome |
|
Flexion contracture, Osteomyelitis, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean cor... |
OMIM:609628 |
Glutamate-Cysteine Ligase Deficiency |
|
Jaundice, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly |
ORPHA:33574 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Hepatitis, Coombs-positive hemolytic anemia, Arthritis, Autoimmune thrombocytopenia, Lymp... |
OMIM:304790 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Splenomegaly, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neon... |
ORPHA:79301 |
Hypobetalipoproteinemia, Familial, 1 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:615558 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal lymph node morphology, Anemia, Abnormality of the pancreas, Brain abscess, Liver abscess... |
ORPHA:54251 |
Thrombotic Thrombocytopenic Purpura |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Reticulocytosis |
ORPHA:54057 |
Systemic Lupus Erythematosus |
|
Leukopenia, Thrombocytopenia, Hemolytic anemia, Arthritis |
OMIM:152700 |
Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, Elevated cir... |
OMIM:257200 |
Chylomicron Retention Disease |
|
Hepatic steatosis, Increased hepatocellular lipid droplets, Elevated hepatic transaminase, Acanth... |
ORPHA:71 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Elevated hepatic transaminase, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosi... |
OMIM:619644 |
Choreoacanthocytosis |
|
Acanthocytosis |
OMIM:200150 |
Cryptogenic Organizing Pneumonia |
|
Pneumothorax, Neutrophilia, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory de... |
ORPHA:1302 |
Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased serum iron |
ORPHA:446 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Acanthocytosis |
OMIM:604777 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopeni... |
OMIM:300853 |
Linear Iga Dermatosis |
|
Pruritus, Autoimmunity |
ORPHA:46488 |
X-Linked Agammaglobulinemia |
|
Anemia, Osteomyelitis, Hepatitis, Arthritis, Abnormality of the lymphatic system, Recurrent cutan... |
ORPHA:47 |
Lathosterolosis |
|
Bilobate gallbladder, Anisopoikilocytosis, Elevated hepatic transaminase, Hepatosplenomegaly, Int... |
OMIM:607330 |
Letterer-Siwe Disease |
|
Anemia, Jaundice, Hepatosplenomegaly, Thrombocytopenia, Neutropenia |
OMIM:246400 |
Immunodeficiency 64 With Lymphoproliferation |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Hepatosplenomegaly, In... |
OMIM:618534 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Ascites, Anemia, Splenomegaly |
ORPHA:1046 |
Hemochromatosis Type 2 |
|
Elevated transferrin saturation, Increased circulating ferritin concentration, Abnormality of iro... |
ORPHA:79230 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Thrombocytopenia, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis |
OMIM:235400 |
Glutathione Synthetase Deficiency |
|
Neutropenia, Hemolytic anemia |
OMIM:266130 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Anemia, B lymphocytopenia, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Pancyt... |
OMIM:619824 |
Griscelli Syndrome |
|
Leukopenia, Hepatitis, Jaundice, Abnormality of neutrophils, Lymphadenopathy, Bone marrow hypocel... |
ORPHA:381 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Complement Component 2 Deficiency |
|
Systemic lupus erythematosus |
OMIM:217000 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Anemia, Flexion contracture, Arthritis, Elevated hepatic transaminase, Lymphopenia, Lymphadenopat... |
OMIM:617591 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Impaired ristocetin-induced plate... |
ORPHA:274 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hypertrophic cardiomyopathy, Sideroblastic anemia, Pallor |
OMIM:613561 |
Preeclampsia |
|
Thrombocytopenia, Elevated hepatic transaminase, Abnormality of the hepatic vasculature |
ORPHA:275555 |
Idiopathic Aplastic Anemia |
|
Anemia, Reticulocytopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
ORPHA:88 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Jaundice, Elevated hepatic transaminase, Lymphadenopathy, Hemophagocytosis, Hepatomegaly,... |
ORPHA:540 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Splenomegaly, Hepatomegaly |
OMIM:619462 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Abnormal natural killer cell count, Anemia, T lymphocytopenia, Ascites, Jaundice, Elevated hepati... |
ORPHA:79124 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Anemia, Camptodactyly, Cholestasis, Hepatomegaly, Decreased liver function, Ascites, Thrombocytop... |
OMIM:608104 |
Dysplastic Cortical Hyperostosis |
|
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly, Hepatomegaly |
ORPHA:2204 |
Familial Expansile Osteolysis |
|
Thin bony cortex, Pathologic fracture, Osteolysis |
OMIM:174810 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Abnormal natural killer cell count, Elevated hepatic transaminase, Abnormal B cell... |
ORPHA:331206 |
Cinca Syndrome |
|
Abnormality of thrombocytes, Anemia, Abnormal granulocyte morphology, Abnormality of neutrophils,... |
ORPHA:1451 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Acute myeloid leukemia, Bone marrow hypocellularity, Refractory anemia, Monocytosis |
OMIM:616871 |
Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
Reticular Dysgenesis |
|
Aplasia/Hypoplasia of the thymus, Leukopenia, Anemia, Abnormality of neutrophils |
ORPHA:33355 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Increased serum iron |
OMIM:231100 |
Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly |
OMIM:618892 |
Thyrocerebrorenal Syndrome |
|
Thrombocytopenia |
ORPHA:3327 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Cinca Syndrome |
|
Anemia, Arthritis, Hepatosplenomegaly, Lymphadenopathy, Leukocytosis, Eosinophilia |
OMIM:607115 |
Hemophagocytic Syndrome Associated With An Infection |
|
Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Elevated hepatic... |
ORPHA:158048 |
Evans Syndrome |
|
Petechiae, Neutropenia in presence of anti-neutropil antibodies, Pallor, Autoimmune thrombocytope... |
ORPHA:1959 |
Amyloidosis, Primary Localized Cutaneous, 2 |
|
Pruritus |
OMIM:613955 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Anemia, Enlarged kidney, Abnormal spleen morphology, Abnormal lymphatic vessel ... |
ORPHA:464329 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Anemia, Cirrhosis, Hepatic necrosis, Lymphopenia, Bone marrow hypocellularity, Increa... |
OMIM:127550 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly |
OMIM:269840 |
Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia, Flexion contracture |
OMIM:612952 |
Relapsing Fever |
|
Leukopenia, Anemia, Jaundice, Neutrophilia, Elevated hepatic transaminase, Leukocytosis, Thromboc... |
ORPHA:91547 |
Whim Syndrome 1 |
|
Bronchiectasis, Decreased circulating antibody level, Recurrent upper respiratory tract infection... |
OMIM:193670 |
Hemochromatosis, Type 4 |
|
Anemia, Cirrhosis, Hepatic steatosis, Hepatomegaly, Osteoarthritis |
OMIM:606069 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Anemia, Bone cyst |
ORPHA:2668 |
Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Anemia, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia |
OMIM:618886 |
Noonan Syndrome 12 |
|
Thrombocytopenia, Lymphopenia |
OMIM:618624 |
Combined Saposin Deficiency |
|