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 |
Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
Iron Overload In Africa |
|
Elevated transferrin saturation |
OMIM:601195 |
Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
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 |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
Diamond-Blackfan Anemia 13 |
|
Normocytic anemia, Elevated red cell adenosine deaminase level |
OMIM:615909 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Dermatitis Herpetiformis, Familial |
|
Pruritus |
OMIM:601230 |
Pruritus, Hereditary Localized |
|
Pruritus |
OMIM:177100 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
Bleeding Disorder, Platelet-Type, 15 |
|
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis |
OMIM:615193 |
Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Anisopoikilocytosis, Anemia, Thrombocytopenia |
OMIM:617441 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... |
OMIM:187800 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:206100 |
Essential Thrombocythemia |
|
Abnormality of bone marrow cell morphology, Myelofibrosis, Abnormality of thrombocytes, Splenomeg... |
ORPHA:3318 |
Ghosal Hematodiaphyseal Dysplasia |
|
Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Leukopenia, Refrac... |
OMIM:231095 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
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 |
Lupus Erythematosus Tumidus |
|
Deep dermal perivascular inflammatory infiltrate, Antinuclear antibody positivity, Autoimmune ant... |
ORPHA:90283 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Myelofibrosis, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia,... |
OMIM:301078 |
Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Lichen Amyloidosis |
|
Pruritus |
ORPHA:49804 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Acute Panmyelosis With Myelofibrosis |
|
Bone marrow hypercellularity, Abnormal megakaryocyte morphology, Lymphocytosis, Myelofibrosis, Ac... |
ORPHA:86843 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia |
OMIM:615234 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Gray Platelet Syndrome |
|
Impaired collagen-induced platelet aggregation, Myelofibrosis, Splenomegaly, Abnormal number of a... |
OMIM:139090 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
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 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia |
OMIM:205950 |
Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... |
OMIM:612840 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Pallor, Splenomegaly |
ORPHA:46532 |
Bleeding Disorder, Platelet-Type, 17 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187900 |
Immunodeficiency 8 |
|
Lymphopenia, Recurrent respiratory infections |
OMIM:615401 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Abnormal megakaryocyte morphology, Hypochromic anemia, Anisocyto... |
ORPHA:67044 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Neutropenia |
OMIM:162800 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Primary Myelofibrosis |
|
Bone marrow hypercellularity, Abnormal megakaryocyte morphology, Hepatomegaly, Abnormality of bon... |
ORPHA:824 |
Amegakaryocytic Thrombocytopenia, Congenital |
|
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia |
OMIM:604498 |
Thrombocytopenia 6 |
|
Bone marrow hypercellularity, Thrombocytopenia, Osteoporosis, Myelofibrosis |
OMIM:616937 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification |
ORPHA:3319 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice |
OMIM:312500 |
Chromosome 5Q Deletion Syndrome |
|
Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia |
OMIM:153550 |
Immunodeficiency 18 |
|
Lymphopenia, Decreased proportion of CD3-positive T cells, Recurrent respiratory infections |
OMIM:615615 |
Thrombocytopenia 7 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-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 epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... |
OMIM:155100 |
Castleman Disease |
|
Decreased mean corpuscular volume, Myelofibrosis, Follicular hyperplasia, Mediastinal lymphadenop... |
ORPHA:160 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Osteopetrosis, Autosomal Recessive 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Extramedullar... |
OMIM:259710 |
Immunodeficiency 24 |
|
Lymphopenia, Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Red... |
OMIM:615897 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Splenomegaly, Osteopenia, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia |
ORPHA:2802 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... |
ORPHA:231222 |
Hashimoto Thyroiditis |
|
Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Recurrent respiratory infections, Neutropenia |
OMIM:300988 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:609820 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ... |
OMIM:231200 |
Hyperlysinemia, Type I |
|
Anemia |
OMIM:238700 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Abnormal megakaryocyte morphology, Hepatomegaly, Hyposegmentatio... |
ORPHA:75564 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Osteopetrosis, Anemia, Thrombocytopenia |
OMIM:615085 |
Myelofibrosis |
|
Myeloproliferative disorder, Myelofibrosis, Splenomegaly |
OMIM:254450 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Abnormal granulocytopoietic cell morphology, Anisocytosis, Macr... |
OMIM:300835 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Glutathione Peroxidase Deficiency |
|
Compensated hemolytic anemia, Heinz bodies |
OMIM:614164 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Spastic Paraplegia And Evans Syndrome |
|
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia |
OMIM:601608 |
Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617980 |
Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Osteopoikilosis |
ORPHA:1879 |
Complement Component 8 Deficiency, Type I |
|
Systemic lupus erythematosus |
OMIM:613790 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Nephronophthisis |
|
Anemia |
ORPHA:655 |
Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased hematocrit |
OMIM:617981 |
Erythrocytosis, Familial, 5 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617907 |
Slc35A1-Cdg |
|
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia |
ORPHA:238459 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:124900 |
Immunodeficiency 95 |
|
Respiratory distress, Lymphopenia, Increased circulating IgG3 level, Recurrent viral upper respir... |
OMIM:619773 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Abnormal cortical bone morphology, Craniofacial hyperostosis, Splenomegaly |
ORPHA:1802 |
Myh9-Related Disease |
|
Increased mean platelet volume, Congenital thrombocytopenia, Neutrophil inclusion bodies, Giant p... |
ORPHA:182050 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anisocytosis, Schistocytosis, Hemoly... |
OMIM:224120 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... |
OMIM:603552 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... |
OMIM:616689 |
Fechtner syndrome |
|
Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets |
OMIM:153640 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Pallor, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormality of bone marrow cell morphology, Splenomegaly, Abnormal B cell count, Os... |
ORPHA:100024 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Immunodeficiency 19 |
|
Lymphopenia, Recurrent respiratory infections |
OMIM:615617 |
Bone Marrow Failure Syndrome 2 |
|
Bone marrow hypocellularity, Leukopenia, Anemia, Thrombocytopenia |
OMIM:615715 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Neonatal death |
OMIM:273680 |
Hereditary Spherocytosis |
|
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... |
ORPHA:822 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Osteomesopyknosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2777 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... |
OMIM:613673 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells |
OMIM:607616 |
Idiopathic Hypereosinophilic Syndrome |
|
Pancreatitis, Neutrophilia, Leukocytosis, Splenomegaly, Cervical lymphadenopathy, Myeloproliferat... |
ORPHA:3260 |
Protoporphyria, Erythropoietic, 2 |
|
Iron deficiency anemia |
OMIM:618015 |
Osteopetrosis, Autosomal Recessive 4 |
|
Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopetrosis, Hepatosplenomegaly, Reticulocytos... |
OMIM:611490 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Pallor, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent respiratory infections, Neutropenia |
OMIM:615214 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia |
OMIM:616176 |
Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... |
ORPHA:98826 |
Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:611783 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Hepatomegaly, Abnormality of the liver |
ORPHA:1980 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia, Osteoporosis |
OMIM:613606 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Anemia, Sideroblastic, 1 |
|
Anemia of inadequate production, Anemic pallor, Hypochromic microcytic anemia, Macrocytic anemia,... |
OMIM:300751 |
Hereditary Elliptocytosis |
|
Cholelithiasis, Stomatocytosis, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemoly... |
ORPHA:288 |
Breath-Holding Spells |
|
Pallor, Iron deficiency anemia |
OMIM:607578 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt... |
OMIM:300908 |
Osteopetrosis, Autosomal Recessive 5 |
|
Stillbirth, Hepatomegaly, Increased bone mineral density, Leukocytosis, Splenomegaly, Extramedull... |
OMIM:259720 |
Preeclampsia/Eclampsia 1 |
|
Elevated hepatic transaminase, Thrombocytopenia |
OMIM:189800 |
Polycythemia Vera |
|
Hepatomegaly, Myelofibrosis, Splenomegaly, Portal hypertension, Acute leukemia |
ORPHA:729 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Congenital Atransferrinemia |
|
Anemia, Abnormality of the pancreas, Arthritis |
ORPHA:1195 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Fanconi Anemia, Complementation Group T |
|
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Pancytopenia |
OMIM:616435 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Leukemia, Neutropenia |
OMIM:614082 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, E... |
ORPHA:231214 |
Chromosome 14Q32 Duplication Syndrome, 700-Kb |
|
Myelofibrosis, Myeloid leukemia |
OMIM:616604 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pneumonia, Autoimmune hemolytic... |
OMIM:247800 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Reduced bone mineral density, He... |
ORPHA:848 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Neutrophilia, Hereditary |
|
Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Cirr... |
ORPHA:231226 |
Immunodeficiency 69 |
|
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
Cryohydrocytosis |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly |
OMIM:185020 |
Osteopetrosis, Autosomal Recessive 3 |
|
Diaphyseal sclerosis, Extramedullary hematopoiesis, Osteopetrosis, Hepatosplenomegaly, Anemia, Cr... |
OMIM:259730 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... |
ORPHA:846 |
Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... |
ORPHA:3202 |
Gnathodiaphyseal Dysplasia |
|
Recurrent fractures, Osteopenia, Thickened cortex of long bones, Mandibular osteomyelitis |
ORPHA:53697 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis |
OMIM:300367 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Megakaryocyte dysplasia, Pancytopenia, Bone marro... |
OMIM:619041 |
Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
Platelet Signal Processing Defect |
|
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... |
OMIM:173590 |
Aicardi-Goutieres Syndrome 3 |
|
Elevated hepatic transaminase, Hepatosplenomegaly, Thrombocytopenia |
OMIM:610329 |
Anemia, Autoimmune Hemolytic |
|
Autoimmune hemolytic anemia |
OMIM:205700 |
Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia, Ascites |
ORPHA:295 |
Spherocytosis, Type 2 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:616649 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Autoimmunity |
OMIM:216950 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:613101 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... |
OMIM:159550 |
Spherocytosis, Type 4 |
|
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:612653 |
Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... |
OMIM:247630 |
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:231900 |
Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:182900 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis |
OMIM:608898 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Abnormality of bone marrow cell morphology, Splenomegaly, Rheumatoid arthritis, Aut... |
ORPHA:100026 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly |
OMIM:153670 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
Schnitzler Syndrome |
|
Hepatomegaly, Increased bone mineral density, Leukocytosis, Splenomegaly, Arthritis, Anemia, Lymp... |
ORPHA:37748 |
Babesiosis |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Leukopenia, Hemolytic anemia, Thrombocytopenia, Jaun... |
ORPHA:108 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice |
OMIM:185000 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia, M... |
OMIM:614470 |
Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Giant cell hepatitis, Hepatomegaly, Hepatic failure, Extramedullary hematopoiesis, Cholestasis, E... |
ORPHA:79303 |
Sitosterolemia 1 |
|
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Arthritis, Impaired platelet aggregatio... |
OMIM:210250 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... |
OMIM:109270 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Thrombocytopenia, Elevated hepatic transaminase, Ascites, Anemia, Lymphadenopathy, ... |
ORPHA:858 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Aggressive Systemic Mastocytosis |
|
Decreased liver function, Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenom... |
ORPHA:98850 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Elevated hepatic transaminase, A... |
ORPHA:98870 |
Acute Erythroid Leukemia |
|
Pancytopenia, Leukopenia, Anemia, Erythroid hypoplasia |
ORPHA:318 |
Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia |
OMIM:229050 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron |
OMIM:603358 |
Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy, Osteolysis |
ORPHA:158014 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Osteoporosis, Elevat... |
OMIM:614727 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia |
ORPHA:32 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Increased mean platelet volume, Thrombocytopenia |
OMIM:300048 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly |
OMIM:314050 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly |
OMIM:133100 |
Leishmaniasis |
|
Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Thrombocytopenia, Elevate... |
ORPHA:507 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval... |
ORPHA:35858 |
C1Q Deficiency |
|
Systemic lupus erythematosus, Autoimmunity |
OMIM:613652 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, Recurrent respiratory infections, B lymphocytopenia, T lymphocyt... |
OMIM:233650 |
Elliptocytosis 1 |
|
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly |
OMIM:611804 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Decreased mean corpuscular volume, Hepatosplenomegaly, Anisopoikilocytosis, Elevated hepatic tran... |
ORPHA:300298 |
Erythrocytosis, Familial, 8 |
|
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Polycythemia, Normocytic anemia, C... |
OMIM:222800 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent bronchitis, Recurrent respiratory infections, Neutropenia |
OMIM:613501 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
Osteopetrosis, Autosomal Dominant 3 |
|
Recurrent fractures, Hepatomegaly, Splenomegaly, Osteopenia, Anemia |
OMIM:618107 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187950 |
Systemic Lupus Erythematosus 16 |
|
Systemic lupus erythematosus |
OMIM:614420 |
Diamond-Blackfan Anemia 20 |
|
Anemia, Erythroid hypoplasia |
OMIM:618313 |
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
|
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia |
OMIM:141700 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Hepatocellular ... |
ORPHA:158057 |
Storage Pool Platelet Disease |
|
Acute leukemia, Decreased mean platelet volume |
OMIM:185050 |
Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
Specific Granule Deficiency 2 |
|
Bone marrow maturation arrest, Osteopenia, Neutropenia, Anemia, Thrombocytopenia, Absent neutroph... |
OMIM:617475 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Pancytopenia, Thro... |
OMIM:610333 |
Complement Component C1S Deficiency |
|
Systemic lupus erythematosus, Hashimoto thyroiditis |
OMIM:613783 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Isolated Agammaglobulinemia |
|
Abnormality of the lymphatic system, Abnormal lymphocyte morphology, Arthritis, Abnormality of th... |
ORPHA:229717 |
Transaldolase Deficiency |
|
Cirrhosis, Anemia, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:101028 |
Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
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 |
Wt Limb-Blood Syndrome |
|
Hypoplastic anemia, Radioulnar synostosis, Joint contracture of the 5th finger, Pancytopenia, Thr... |
OMIM:194350 |
Fetal Gaucher Disease |
|
Hepatomegaly, Flexion contracture, Splenomegaly, Abnormality of the spleen, Neonatal death, Arthr... |
ORPHA:85212 |
Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis |
OMIM:266140 |
Sickle Cell Anemia |
|
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Cardiom... |
OMIM:603903 |
Chilblain Lupus |
|
Discoid lupus rash, Antiphospholipid antibody positivity, Systemic lupus erythematosus, Inflammat... |
ORPHA:90280 |
Gaucher Disease, Type Ii |
|
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:230900 |
Megaloblastic Anemia, Folate-Responsive |
|
Hypersegmentation of neutrophil nuclei, Folate-responsive megaloblastic anemia, Episodic hemolyti... |
OMIM:601775 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia |
OMIM:601815 |
Bone Marrow Failure Syndrome 4 |
|
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Leukopenia |
OMIM:618116 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia, Decreased ... |
OMIM:613011 |
Felty Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Thrombocytopenia, Arthritis, Osteolys... |
ORPHA:47612 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... |
ORPHA:2585 |
Fgfr2-Related Bent Bone Dysplasia |
|
Incomplete ossification of pubis, Extramedullary hematopoiesis, Osteopenia, Hepatosplenomegaly, D... |
ORPHA:313855 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Jaundice |
OMIM:613839 |
Endosteal Hyperostosis, Worth Type |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial... |
ORPHA:2790 |
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration |
|
Acanthocytosis |
OMIM:607236 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Bone marrow hypercellularity, Abnormal megakaryocyte morphology, Abnormality of bone marrow strom... |
ORPHA:86841 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:79312 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, C... |
OMIM:612714 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Cirrhosis, Leukopenia, Osteopenia, Os... |
ORPHA:77259 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... |
OMIM:603554 |
Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... |
OMIM:616860 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Limited pronation/supination of forearm, Congenital thrombocytopenia, Radioulnar synostosis, Neut... |
OMIM:616738 |
Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
Rh Deficiency Syndrome |
|
Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anemia, Hemolytic anemia... |
ORPHA:71275 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anemia, Anisopoikilocytosis, Neutropenia |
OMIM:619835 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Asplenia, Howell-Jolly bodies |
OMIM:271400 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative disorder, Eosinophilia |
OMIM:131440 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis, ... |
OMIM:617948 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
X-Linked Sideroblastic Anemia |
|
Pallor, Anemia, Splenomegaly |
ORPHA:75563 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia |
OMIM:610798 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Anemia |
OMIM:613313 |
Autoinflammation With Infantile Enterocolitis |
|
Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Reduced natural killer cell count |
OMIM:616050 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... |
ORPHA:64743 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia |
OMIM:243320 |
Osteopetrosis, Autosomal Recessive 1 |
|
Osteomyelitis, Hepatomegaly, Increased bone mineral density, Splenomegaly, Craniosynostosis, Oste... |
OMIM:259700 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy, Ascites |
ORPHA:100025 |
Immunodeficiency 46 |
|
Anemia, Intermittent thrombocytopenia, Neutropenia |
OMIM:616740 |
Wilson Disease |
|
Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis, Thrombocytopenia, ... |
ORPHA:905 |
Intermediate Osteopetrosis |
|
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ... |
ORPHA:210110 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Immunodeficiency 13 |
|
Bronchiolitis obliterans organizing pneumonia, Lymphopenia, Recurrent upper respiratory tract inf... |
OMIM:615518 |
Amed Syndrome, Digenic |
|
Leukopenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Acute myeloid leukemia |
OMIM:619151 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Decreased liver function, Sideroblastic anemia, Thrombocytopenia |
OMIM:617021 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenomegaly, ... |
OMIM:278000 |
Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
Mcleod Syndrome |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Acanth... |
OMIM:300842 |
Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
Diffuse Neonatal Hemangiomatosis |
|
Anemia, Thrombocytopenia, Hepatomegaly, Ascites |
ORPHA:2123 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Hypochromic anemia, Pallor, Pappenheimer bodies, Microcytic anemia, Sideroblastic anemia, Erythro... |
OMIM:600462 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Hepatocellular necrosis, Hepatomegaly, Microvesicular hepatic ... |
OMIM:618278 |
Gaucher Disease, Type Iii |
|
Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancytopenia |
OMIM:231000 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia |
OMIM:616959 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Abnormality of thrombocytes, Anemia, Asplenia |
ORPHA:3204 |
Macrophage Activation Syndrome |
|
Decreased liver function, Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Juvenile rhe... |
ORPHA:158061 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Transcobalamin Deficiency |
|
Neutropenia, Lymphopenia, Megaloblastic bone marrow, Pancytopenia, Thrombocytopenia |
ORPHA:859 |
Rhabdoid Tumor |
|
Anemia, Lymphadenopathy, Neoplasm of the liver, Thrombocytopenia |
ORPHA:69077 |
Neonatal Lupus Erythematosus |
|
Neutropenia, Hepatomegaly, Splenomegaly, Hepatic failure, Aplastic anemia, Hemolytic anemia, Elev... |
ORPHA:398124 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Stomatocytosis |
OMIM:301083 |
Orotic Aciduria |
|
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocytosis, Pyrimidine-r... |
OMIM:258900 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia |
OMIM:598500 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Anemia, Thrombocytopenia |
OMIM:614946 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Diamond-Blackfan Anemia 12 |
|
Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a... |
OMIM:615550 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Neutropenia, Lymphopenia, Decreased circulating IgG level, Chronic bronchitis, Recurrent respirat... |
OMIM:618986 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia, Hepatic hemangioma |
ORPHA:141179 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... |
OMIM:209950 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly... |
OMIM:619924 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Osteomyelitis, Leukocytosis, Hypochromic anemia, Persistence o... |
ORPHA:232 |
Hydrops Fetalis, Nonimmune |
|
Anemia |
OMIM:236750 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Bone marrow hypercellularity, Abnormal mast cell morphology, Hepatomegaly, Neutrophilia, Splenome... |
ORPHA:98849 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Rheumatoid arthritis, Inflammatory abnormality of the skin, Rheumatoid factor positive, Pruritus |
ORPHA:79099 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent respiratory infections, Neutropenia |
OMIM:616022 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Pancreatitis, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:289916 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepatic failure, Fulmin... |
OMIM:308240 |
Immunodeficiency 104 |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:612126 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Neutrope... |
OMIM:618849 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:603909 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Thrombocytopenia, Lymphopenia |
OMIM:616744 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Normocytic anemia, Cholecystitis, ... |
OMIM:235700 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia, Stillbirth, Neonatal death, Camptodactyly |
OMIM:619751 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Jaundice |
ORPHA:290 |
Fibrodysplasia Ossificans Progressiva |
|
Synostosis of joints, Ectopic ossification in ligament tissue, Ectopic ossification in muscle tis... |
ORPHA:337 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia, Abnormal pleura morphology |
ORPHA:2582 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Sideroblastic anemia |
OMIM:616084 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Recurrent bronchopulmonary infections, Neutropenia |
ORPHA:90023 |
Alopecia Areata 1 |
|
Autoimmunity |
OMIM:104000 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... |
OMIM:615513 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Pancreatitis, Hepatomegaly, Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia |
ORPHA:27 |
Tufted Angioma |
|
Anemia, Thrombocytopenia, Megakaryocytopenia |
ORPHA:1063 |
Abetalipoproteinemia |
|
Acanthocytosis |
OMIM:200100 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:613502 |
Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia, Hepatic hemangioma |
ORPHA:141184 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Reduced bone mineral density, Splenomegaly, Cholestasis, Abnormality of thrombocyte... |
ORPHA:172 |
Developmental And Epileptic Encephalopathy 50 |
|
Anemia, Anisopoikilocytosis, Acanthocytosis, Schistocytosis |
OMIM:616457 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia |
OMIM:314000 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy |
OMIM:619164 |
Hemochromatosis, Type 3 |
|
Lymphopenia, Cirrhosis, Arthritis, Elevated hepatic transaminase, Neutropenia, Anemia |
OMIM:604250 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:601859 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Schistocytosis, Prolonged neonatal jaundice, Microangiopathic hemolytic anemia, Reticulocytosis, ... |
OMIM:274150 |
Van Buchem Disease |
|
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density |
OMIM:239100 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... |
OMIM:617780 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Anemia |
OMIM:610090 |
Immunodeficiency 97 With Autoinflammation |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... |
OMIM:619802 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Abnormality of the hepatic vasculature, Hepatosplenomegaly, Nodular regenerative hyperplasia of l... |
ORPHA:210136 |
Fanconi Anemia, Complementation Group V |
|
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Cirrhosis, Osteopenia, Aplastic anemia, Mediastinal lymphadenopathy, Myeloid leukemia, Pancytopen... |
OMIM:614742 |
Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Splenomegaly, Pallor, Pericarditis, Anemia |
ORPHA:163596 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent streptococcus pneumoniae infections, Neutropenia |
ORPHA:70592 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... |
OMIM:150550 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Rh-Null, Regulator Type |
|
Hemolytic anemia, Jaundice, Stomatocytosis |
OMIM:268150 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... |
OMIM:619375 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hepatic steatosis, Increased hepatocellular lipid droplets, Acanth... |
ORPHA:71 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Abnormally low T cell receptor excision circle level, Recurrent upper respiratory tract infection... |
OMIM:618806 |
Tularemia |
|
Cutaneous abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenop... |
ORPHA:3392 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Absent specific antibody response, Autoimmune thrombocytopenia, Decreased proportion... |
OMIM:619846 |
Elliptocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Elliptocytosis |
OMIM:130600 |
Acute Peripheral Arterial Occlusion |
|
Pallor, Leukocytosis |
ORPHA:90064 |
Aregenerative Anemia |
|
Abnormal proportion of CD8-positive T cells, Neutropenia, Abnormality of bone marrow cell morphol... |
ORPHA:101096 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thrombocytopenia |
ORPHA:158029 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... |
OMIM:619281 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Hepatomegaly, Abnormality of bone marrow cell morphology, Splenome... |
ORPHA:98848 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnormal... |
ORPHA:3226 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hep... |
OMIM:615559 |
Short Stature With Microcephaly And Distinctive Facies |
|
Osteopenia, Anemia, Anisopoikilocytosis |
OMIM:615789 |
Potocki-Shaffer Syndrome |
|
Anemia, Decreased skull ossification |
ORPHA:52022 |
Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis |
ORPHA:564003 |
Sclerosteosis |
|
Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis |
ORPHA:3152 |
Gaucher Disease, Type I |
|
Hepatomegaly, Splenomegaly, Pathologic fracture, Pancytopenia, Anemia, Thrombocytopenia, Hyperspl... |
OMIM:230800 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Atrial septal defect, Pallor, Ventricular septal defect, Thrombocytopenia |
ORPHA:49827 |
Ollier Disease |
|
Joint stiffness, Anemia, Lymphangioma, Osteolysis |
ORPHA:296 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia |
OMIM:618660 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Optic Atrophy 9 |
|
Pallor |
OMIM:616289 |
Tyrosinemia Type 1 |
|
Rickets of the lower limbs, Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatocellular car... |
ORPHA:882 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... |
OMIM:619463 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Splenomegaly, Pallor, Decreased hemoglobin concentration, Chronic hemolytic anemia, Reticulocytos... |
OMIM:266200 |
Immunodeficiency 31C |
|
Autoimmune hemolytic anemia, Osteopenia, Lymphopenia |
OMIM:614162 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated hepatic transaminas... |
OMIM:616278 |
Diamond-Blackfan Anemia 4 |
|
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia |
OMIM:612527 |
Transaldolase Deficiency |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cirrhosis, Hepatosp... |
OMIM:606003 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... |
OMIM:144750 |
Immunodeficiency 102 |
|
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, B lymphocytop... |
OMIM:301082 |
Caffey Disease |
|
Joint hypermobility, Periosteal thickening of long tubular bones, Calvarial hyperostosis, Cortica... |
OMIM:114000 |
Majeed Syndrome |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Osteomyelitis, Flexion contra... |
OMIM:609628 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Osteoporosis, Biliary tract abnormality, Elevated hepatic ... |
ORPHA:79301 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy |
ORPHA:66661 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Hepatosplenomegaly, Sterile abscess, Arthritis, Thrombocytosis, Microcytic anemia, Elbow flexion ... |
OMIM:604416 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Dysplastic granulopoesis, Abnormality of bone marrow cell morpho... |
ORPHA:86839 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Glutamate-Cysteine Ligase Deficiency |
|
Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis, Jaundice |
ORPHA:33574 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Abnormality of the lymph nodes, Brain abscess, Abnormality of the lymphatic system,... |
ORPHA:54251 |
Linear Iga Dermatosis |
|
Autoimmunity, Pruritus |
ORPHA:46488 |
Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis |
ORPHA:90044 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Ar... |
OMIM:304790 |
Hypobetalipoproteinemia, Familial, 1 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:615558 |
Systemic Lupus Erythematosus 17 |
|
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
Congenital Erythropoietic Porphyria |
|
Splenomegaly, Anisocytosis, Leukopenia, Osteopenia, Osteoporosis, Hemolytic anemia, Poikilocytosi... |
ORPHA:79277 |
Sengers Syndrome |
|
Thrombocytopenia |
OMIM:212350 |
3-Methylglutaconic Aciduria Type 4 |
|
Decreased liver function, Thrombocytopenia |
ORPHA:67048 |
Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia |
ORPHA:54057 |
Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransfera... |
OMIM:257200 |
Complement Component 2 Deficiency |
|
Systemic lupus erythematosus |
OMIM:217000 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, B Acute Lymphoblast... |
OMIM:619824 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Leukopenia, Thrombocytopenia, Arthritis |
OMIM:152700 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Hemophagocytosis, Acute hepatic failure, Hepatosplenomegaly, Monocyto... |
OMIM:619644 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:614480 |
Stormorken Syndrome |
|
Anemia, Thrombocytopenia, Asplenia, Howell-Jolly bodies |
OMIM:185070 |
Immunodeficiency 64 |
|
Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ... |
OMIM:618534 |
Choreoacanthocytosis |
|
Acanthocytosis |
OMIM:200150 |
Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased serum iron |
ORPHA:446 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Anemia, Ascites, Splenomegaly |
ORPHA:1046 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Decreased proportion of C... |
OMIM:300853 |
Propionic Acidemia |
|
Pancreatitis, Hepatomegaly, Osteoporosis, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:606054 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Acanthocytosis |
OMIM:604777 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Lathosterolosis |
|
Hepatosplenomegaly, Anisopoikilocytosis, Osteoporosis, Acanthocytosis, Schistocytosis, Increased ... |
OMIM:607330 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukoc... |
ORPHA:1302 |
X-Linked Agammaglobulinemia |
|
Osteomyelitis, Abnormality of the lymphatic system, Arthritis, Abnormality of the tonsils, Hepati... |
ORPHA:47 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Reticulocytopenia |
ORPHA:88 |
Hemochromatosis Type 2 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... |
ORPHA:79230 |
Letterer-Siwe Disease |
|
Hepatosplenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice |
OMIM:246400 |
Thrombocytopenia 1 |
|
Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume |
OMIM:313900 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphopenia, Hepatomegaly, Flexion contracture, Splenomegaly, Thrombocytopenia, Arthritis, Elevat... |
OMIM:617591 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Schistocytosis |
OMIM:235400 |
Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils, Hepatitis, ... |
ORPHA:381 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Decreased liver function, Cholestatic liver disease, Hepatomegaly, Hemophagocytosis, Splenomegaly... |
ORPHA:540 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Left ventricular hypertrophy, Camptodactyly, Anemia, Thrombocytopenia |
OMIM:611209 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet aggregation, Macrot... |
ORPHA:274 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Hepatomegaly, Neonatal death, Cholestasis, Camptodactyly, Anemia, Throm... |
OMIM:608104 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Hepatosplenomegaly, Absence of lymph node germinal center, T lymphocytopenia, Eleva... |
ORPHA:79124 |
Cinca Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Reduced bone mineral density, Abnormal granulocyte morp... |
ORPHA:1451 |
Preeclampsia |
|
Elevated hepatic transaminase, Abnormality of the hepatic vasculature, Thrombocytopenia |
ORPHA:275555 |
Dysplastic Cortical Hyperostosis |
|
Abnormal cortical bone morphology, Hepatomegaly, Increased bone mineral density, Splenomegaly |
ORPHA:2204 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Abnormality of iron homeostasis, Increased serum iron |
OMIM:231100 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Anemia, Leukopenia, Aplasia/Hypoplasia of the thymus |
ORPHA:33355 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Hepatomegaly, Lymphopenia, Lymphadenitis, Eosinophilia, Hepatosplenomegaly... |
ORPHA:331206 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid leukemia |
OMIM:616871 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Cinca Syndrome |
|
Leukocytosis, Eosinophilia, Hepatosplenomegaly, Arthritis, Anemia, Lymphadenopathy |
OMIM:607115 |
Amyloidosis, Primary Localized Cutaneous, 2 |
|
Pruritus |
OMIM:613955 |
Familial Expansile Osteolysis |
|
Pathologic fracture, Osteolysis, Thin bony cortex |
OMIM:174810 |
Hemophagocytic Syndrome Associated With An Infection |
|
Neutropenia, Hepatomegaly, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, P... |
ORPHA:158048 |
Harderoporphyria |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Prolonged neonatal jaundice, Reticulocytosis |
OMIM:618892 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Lymphopenia, Cirrhosis, Aplastic anemia, Osteoporosis, Bone marrow hypocellularity, Anemia, Throm... |
OMIM:127550 |
Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia, Flexion contracture |
OMIM:612952 |
Immunodeficiency 48 |