Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... |
OMIM:615285 |
Immunodeficiency 69 |
|
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia |
OMIM:618963 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... |
OMIM:202700 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... |
OMIM:614470 |
Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... |
OMIM:187950 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
Asplenia, Isolated Congenital |
|
Thrombocytosis, Howell-Jolly bodies, Asplenia |
OMIM:271400 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... |
ORPHA:521 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Diamond-Blackfan Anemia 3 |
|
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... |
OMIM:610629 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Decreased mean corpuscular volume, Anemia, Hypochromia |
OMIM:205950 |
Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... |
ORPHA:90039 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Anemia, Hypochromia |
OMIM:206100 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... |
OMIM:206000 |
Acquired Idiopathic Sideroblastic Anemia |
|
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... |
ORPHA:75564 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Neutropenia, Monocytosis, B lymphocytopenia |
OMIM:613107 |
Polycythemia Vera |
|
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... |
OMIM:263300 |
Diamond-Blackfan Anemia 12 |
|
Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ... |
OMIM:615550 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Oval macrocytosis, Anisocytosis, Poikilocytosis |
OMIM:603529 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Neutropenia, Anemia, Increased... |
OMIM:619041 |
Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Enlarged mesenteri... |
OMIM:209950 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Bone marrow hypocellularity, Monocytosis, Acute myeloid leukemia, Refractory anemia |
OMIM:616871 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Leukocytosis, Enlarged tonsils |
ORPHA:168621 |
Diamond-Blackfan Anemia 4 |
|
Neutropenia, Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia |
OMIM:612527 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Leukopenia, Bone marrow hypocellularity, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Ab... |
ORPHA:86841 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Abnormality of thrombocytes... |
OMIM:612840 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... |
ORPHA:67044 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Chronic hemolytic ane... |
ORPHA:766 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Poikilocytosis, Splenomegaly, Anisocytosis, Erythroid hyperplasia, Reticulocytosis, Anemia of ina... |
OMIM:224120 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Splenomegaly, Anisocytosis, Anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate ... |
OMIM:615631 |
Immunodeficiency 14B, Autosomal Recessive |
|
Leukocytosis, Monocytosis, Thrombocytosis, Neutrophilia, B lymphocytopenia |
OMIM:619281 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia |
OMIM:269600 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Microcytic anemia, Sterile abscess, Hepatosplenomegaly, Thrombocytosis |
OMIM:604416 |
Eosinophilia, Familial |
|
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia |
OMIM:131400 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... |
OMIM:300835 |
Primary Myelofibrosis |
|
Pancytopenia, Hepatosplenomegaly, Leukocytosis, Portal hypertension, Thrombocytosis, Splenomegaly... |
ORPHA:824 |
Diamond-Blackfan Anemia 5 |
|
Reticulocytopenia, Leukopenia, Erythroid hypoplasia, Macrocytic anemia |
OMIM:612528 |
Overhydrated Hereditary Stomatocytosis |
|
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... |
ORPHA:3203 |
Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Megaloblastic anemia, Increased mean corpuscular volume |
OMIM:261000 |
Sickle Cell Anemia |
|
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Cholestasis, Thrombocytosis... |
ORPHA:232 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hemolytic anem... |
OMIM:616689 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia |
OMIM:206200 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly |
ORPHA:46532 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Bone marrow hypocellularity, Neutropenia, Anemia, Reticulocytopenia, Thrombocytopenia |
ORPHA:88 |
Hemoglobin H Disease |
|
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
Fanconi Anemia, Complementation Group G |
|
Leukemia, Neutropenia, Anemia, Abnormality of chromosome stability, Thrombocytopenia |
OMIM:614082 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Eosinophil Peroxidase Deficiency |
|
Abnormal eosinophil morphology |
OMIM:261500 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Pancytopenia, Thrombocytosis, Megaloblastic anemia, Macrocytic anemia, Anemia of inadequate produ... |
OMIM:617780 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly, Hepatomegaly |
OMIM:606445 |
Erythroleukemia, Familial, Susceptibility To |
|
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... |
OMIM:133180 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
Myeloproliferative Syndrome, Transient |
|
Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
Hypereosinophilic Syndrome, Idiopathic |
|
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly |
OMIM:607685 |
Neutrophilia, Hereditary |
|
Neutrophilia, Hepatosplenomegaly |
OMIM:162830 |
Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... |
OMIM:237800 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice |
OMIM:206400 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia |
ORPHA:517 |
Diamond-Blackfan Anemia 19 |
|
Anemia, Erythroid hypoplasia, Steroid-responsive anemia |
OMIM:618312 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Trimethylaminuria |
|
Neutropenia, Anemia, Splenomegaly |
OMIM:602079 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... |
ORPHA:444463 |
Heme Oxygenase 1 Deficiency |
|
Thrombocytosis, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Hepatomegaly, Hemolyt... |
OMIM:614034 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hepatosplenomegaly, Anemia, Anisopoikilocytosis, Dysplastic erythropoesis, Reticulocytopenia, Dec... |
ORPHA:300298 |
Adult Idiopathic Neutropenia |
|
Neutropenia, Monocytosis, Lymphopenia, Monocytopenia |
ORPHA:2688 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... |
OMIM:603902 |
Thrombocytopenia, Cyclic |
|
Neutropenia, Cyclic neutropenia, Thrombocytopenia |
OMIM:188020 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscular volume, Stomatocytosis |
ORPHA:90044 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Poikilocytosis, Splenomegaly, Anemia, Decreased mean corpuscular volume, Hypochromia |
OMIM:615234 |
Immunodeficiency 7 |
|
Hypereosinophilia, Lymphadenopathy |
OMIM:615387 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Anisocytosis, Splenomegaly, Anemia, Erythroid hyperplasia, Decreased mean cor... |
OMIM:616860 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231242 |
Aregenerative Anemia |
|
Pancytopenia, Bone marrow hypocellularity, Decreased proportion of CD4-positive helper T cells, A... |
ORPHA:101096 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Bone Marrow Failure Syndrome 6 |
|
Bone marrow hypocellularity, Neutropenia, Anemia, Increased mean corpuscular volume, Persistence ... |
OMIM:618849 |
Immunodeficiency 92 |
|
Sclerosing cholangitis, Leukocytosis, Cholangitis, Thrombocytosis, Hepatomegaly, B lymphocytopeni... |
OMIM:619652 |
Hemoglobin E Disease |
|
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... |
ORPHA:2133 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Neutrophilia, Hepatomegaly, Lymphadenopathy, T... |
OMIM:619644 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia |
ORPHA:228312 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice |
OMIM:312500 |
Dehydrated Hereditary Stomatocytosis |
|
Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular hemoglobin concent... |
ORPHA:3202 |
Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis |
ORPHA:26137 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Anemia, Increased mean corpuscular volume, Abnormal erythrocyte morphology, Poikilo... |
ORPHA:98870 |
Immunodeficiency 104 |
|
Lymphadenopathy, T lymphocytopenia, Splenomegaly, Hepatomegaly |
OMIM:608971 |
Oslam Syndrome |
|
Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production |
OMIM:224100 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia |
ORPHA:231401 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... |
OMIM:613673 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Monocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Lymphopenia, Hypoplasia... |
OMIM:612541 |
Immunodeficiency 21 |
|
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... |
OMIM:614172 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fava bean-induced hemolytic anemia, Leukocytosis, Anisocytosis, Splenomegaly, Heinz bodies, Retic... |
OMIM:300908 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Pancytopenia, Abnormality of chromosome stability |
OMIM:600546 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr... |
OMIM:603552 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia, Abnormality of thrombocytes |
ORPHA:721 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Leukemia, Chromosomal breakage induced by crosslinking agents, Neutropenia, Anemia,... |
OMIM:600901 |
Hereditary Spherocytosis |
|
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Jaundice, Hepa... |
ORPHA:822 |
Thrombocytopenia 4 |
|
Thrombocytopenia |
OMIM:612004 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Hepatosplenomegaly, Anemia, Thrombocytopenia, Extramedullary hematopoiesis |
OMIM:259710 |
Transcobalamin Ii Deficiency |
|
Pancytopenia, Reticulocytopenia, Neutropenia, Macrocytic anemia |
OMIM:275350 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Leukemia, Chromosomal breakage induced by crosslinking agents, Neutropenia, Anemia,... |
OMIM:227650 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Leukocytosis, Cirrhosis, Splenomega... |
ORPHA:231222 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Eosinophilia, Monocytosis, Leukemia, Acute myeloid leukemia, Neutropenia, Aplastic anemia, Acute ... |
ORPHA:486 |
Immunodeficiency 76 |
|
T lymphocytopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis |
OMIM:608898 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Monocytosis |
OMIM:610680 |
Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Inc... |
OMIM:617514 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly |
OMIM:618495 |
Niemann-Pick Disease, Type B |
|
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:607616 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Lymphadenopathy |
OMIM:618852 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Leukemia, Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking... |
OMIM:227645 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Hypoplastic anemia, Spl... |
ORPHA:2585 |
X-Linked Severe Congenital Neutropenia |
|
Neutropenia, Monocytopenia |
ORPHA:86788 |
Kimura Disease |
|
Eosinophilia, Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
Fanconi Anemia, Complementation Group D1 |
|
Chromosomal breakage induced by crosslinking agents, T-cell acute lymphoblastic leukemias, Acute ... |
OMIM:605724 |
Immunodeficiency 48 |
|
Splenomegaly, Hepatomegaly |
OMIM:269840 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Anemia, Elliptocytosis, Decreased mean corpuscular volume, Poikilocytosis |
OMIM:616959 |
Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Abnormality of chromosome stability, Neutropenia, Lymphopenia |
ORPHA:859 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Lymphadenopathy |
ORPHA:100024 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Anemia, Methemoglobinemia |
OMIM:613977 |
Immunodeficiency 14A, Autosomal Dominant |
|
T lymphocytopenia, Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B... |
OMIM:615513 |
Alpha-Thalassemia |
|
Microcytic anemia, Cholelithiasis, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... |
ORPHA:846 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Pancytopenia And Occlusive Vascular Disease |
|
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia |
OMIM:167850 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia |
OMIM:613101 |
Diamond-Blackfan Anemia 10 |
|
Reticulocytopenia, Anemia, Macrocytic anemia, Steroid-responsive anemia |
OMIM:613309 |
Spherocytosis, Type 5 |
|
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:612690 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Fluctuating splenomegaly, Neutropenia i... |
OMIM:619220 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia |
OMIM:615085 |
Halothane Hepatitis |
|
Eosinophilia, Viral hepatitis, Hepatitis, Jaundice |
OMIM:234350 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis |
OMIM:617948 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Leukopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia, B lymphocytopenia... |
ORPHA:508542 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Generalized Eruptive Histiocytosis |
|
Hypereosinophilia, Leukemia, Histiocytosis |
ORPHA:157991 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612561 |
Fanconi Anemia, Complementation Group S |
|
Anemia, Chromosome breakage |
OMIM:617883 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy |
ORPHA:66661 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Lymphadenopathy |
OMIM:212050 |
Orotic Aciduria |
|
Folate-unresponsive megaloblastic anemia, Hypochromia, Anisocytosis, Pyrimidine-responsive megalo... |
OMIM:258900 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Impaired neutrophil chemotaxis, ... |
OMIM:618986 |
Cryohydrocytosis |
|
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis |
OMIM:185020 |
Immunodeficiency 54 |
|
Adrenocorticotropic hormone excess, Intrauterine growth retardation, Chromosome breakage, Splenom... |
OMIM:609981 |
Rh Deficiency Syndrome |
|
Macrocytic anemia, Hepatosplenomegaly, Anisocytosis, Spherocytosis, Hemolytic anemia, Stomatocyto... |
ORPHA:71275 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia |
OMIM:610539 |
Fanconi Anemia, Complementation Group L |
|
Abnormality of chromosome stability, Anemia, Chromosome breakage, Bone marrow hypocellularity |
OMIM:614083 |
Autoimmune Lymphoproliferative Syndrome |
|
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... |
OMIM:601859 |
Familial Thrombocytosis |
|
Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia |
ORPHA:71493 |
Breath-Holding Spells |
|
Pallor, Iron deficiency anemia |
OMIM:607578 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, B lymphocytopen... |
OMIM:150550 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Anemia, Follicular hyperplasia, Lymphop... |
OMIM:615934 |
Erythrocytosis, Familial, 8 |
|
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... |
OMIM:222800 |
Majeed Syndrome |
|
Microcytic anemia, Hepatosplenomegaly, Erythroid hyperplasia, Decreased mean corpuscular volume, ... |
OMIM:609628 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Bone Marrow Failure Syndrome 2 |
|
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia |
OMIM:615715 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia |
OMIM:314050 |
Macrosomia Adiposa Congenita |
|
Eosinophilia |
OMIM:248100 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Leukocytosis, Thrombocytosis, Interface hepatitis, Autoimmune hemolytic anemia, Impaired lymphocy... |
OMIM:243150 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Omenn Syndrome |
|
Eosinophilia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, B lymphocytopenia, Ly... |
OMIM:603554 |
Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
N Syndrome |
|
Abnormality of chromosome stability, Leukemia |
OMIM:310465 |
Spherocytosis, Type 4 |
|
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:612653 |
Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Hypochromic microcytic anemia, As... |
OMIM:259720 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia |
OMIM:611490 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Thrombocytosis, Iron deficiency anemia, Hepatomegaly, Ascites |
OMIM:226300 |
Amegakaryocytic Thrombocytopenia, Congenital |
|
Pancytopenia, Amegakaryocytic thrombocytopenia, Thrombocytopenia |
OMIM:604498 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Leukemia, Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking... |
OMIM:227646 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Microcephaly, Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Microcytic anemia, Hypochromic anemia, Sideroblastic anemia, Pappenheimer bodies, Microcephaly, E... |
OMIM:600462 |
Placental Insufficiency |
|
Abnormal placenta morphology, Intrauterine growth retardation, Eclampsia, Maternal hypertension, ... |
ORPHA:439167 |
Osteopetrosis, Autosomal Recessive 3 |
|
Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis |
OMIM:259730 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... |
OMIM:235700 |
Schnitzler Syndrome |
|
Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy |
ORPHA:37748 |
Blackfan-Diamond Anemia |
|
Leukopenia, Thrombocytosis, Erythroid hypoplasia, Acute myeloid leukemia, Elevated red cell adeno... |
ORPHA:124 |
Eosinophilic Fasciitis |
|
Eosinophilia, Abnormal eosinophil morphology |
ORPHA:3165 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Decrea... |
OMIM:619375 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185000 |
Dominant Beta-Thalassemia |
|
Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Hepatic fibro... |
ORPHA:231226 |
Sea-Blue Histiocytosis |
|
Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic steatosis, Hepatic fibrosis, Splenomegaly, Hepatomegaly |
OMIM:614480 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Ascites |
ORPHA:100025 |
Thrombocytopenia 7 |
|
Impaired ADP-induced platelet aggregation, Impaired arachidonic acid-induced platelet aggregation... |
OMIM:619130 |
Spherocytosis, Type 2 |
|
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:616649 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... |
ORPHA:231154 |
Pearson Marrow-Pancreas Syndrome |
|
Pancytopenia, Refractory sideroblastic anemia, Sideroblastic anemia, Hypoplastic anemia, Neutrope... |
OMIM:557000 |
Cinca Syndrome |
|
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Lymphadenopathy |
OMIM:607115 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Cerebral atrophy, Megaloblastic anemia, Hepatomegaly, Jaundice, Secondary microceph... |
OMIM:613839 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Splenomegaly, Hepatomegaly |
OMIM:618541 |
Beta-Thalassemia Major |
|
Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Hepatic fibro... |
ORPHA:231214 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:182900 |
Immunodeficiency 64 |
|
Hepatosplenomegaly, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic ane... |
OMIM:618534 |
Erythrocytosis, Familial, 1 |
|
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:133100 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper... |
OMIM:300853 |
Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly |
ORPHA:75563 |
Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly |
ORPHA:882 |
Fgfr2-Related Bent Bone Dysplasia |
|
Hepatosplenomegaly, Extramedullary hematopoiesis |
ORPHA:313855 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Leukocytosis, Lymphadenopathy, Splenomegaly |
OMIM:611762 |
Anemia, Sideroblastic, 5 |
|
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia |
OMIM:619523 |
Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Lymphadenopathy, Aplasti... |
OMIM:308240 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Agenesis of corpus callosum, Microphthalmia, Orbital encephalocele, Hypoplasia of t... |
OMIM:164180 |
Methylcobalamin Deficiency Type Cble |
|
Pancytopenia, Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
ORPHA:2169 |
Harderoporphyria |
|
Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia, Reticulocytosis |
OMIM:618892 |
Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Hydrops fetalis, Splenomegaly, Hepatomegaly, Anemia, Polyhydramnios, Preecla... |
ORPHA:163596 |
Glutamate-Cysteine Ligase Deficiency |
|
Reticulocytosis, Jaundice, Hepatosplenomegaly, Hemolytic anemia |
ORPHA:33574 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect, Anophthalmia, Microphthalmia |
OMIM:600776 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Pancytopenia, Leukopenia, Hepatosplenomegaly, Leukocytosis, Bone marrow hypocellularity, Thromboc... |
OMIM:615688 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Microcephaly, Anophthalmia, Encephalocele |
OMIM:613885 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Megaloblastic anemia, Increased mean corpuscular volume |
OMIM:277410 |
Hemochromatosis, Type 2B |
|
Splenomegaly, Hepatomegaly, Anemia, Cirrhosis, Hepatic fibrosis |
OMIM:613313 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume |
OMIM:611590 |
Refractory Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Neutropenia, Macrocytic anemia, Normochromic anem... |
ORPHA:98826 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
Acute Peripheral Arterial Occlusion |
|
Leukocytosis |
ORPHA:90064 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatic steatosis, Cholestasis, Hepatomegaly, Jaundice, Giant cell hepatitis, Prolonged neonatal ... |
ORPHA:79303 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity |
ORPHA:98827 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Mastocytosis, Splenomegaly, Hepatomegaly, Increased proportion of ... |
ORPHA:98848 |
Anencephaly 2 |
|
Anencephaly, Anophthalmia |
OMIM:619452 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Anemia, Lym... |
ORPHA:507 |
Beta-Thalassemia |
|
Cholelithiasis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Hepatomegaly, Anemia, Hepat... |
ORPHA:848 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly |
ORPHA:417 |
Retinohepatoendocrinologic Syndrome |
|
Pallor, Degenerative liver disease |
OMIM:268040 |
Fanconi Anemia, Complementation Group I |
|
Colpocephaly, Intrauterine growth retardation, Agenesis of corpus callosum, Chromosomal breakage ... |
OMIM:609053 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:79238 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... |
OMIM:603909 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Hepatitis, Aplastic anemia |
OMIM:300635 |
Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularity |
OMIM:609054 |
Aicardi-Goutieres Syndrome 4 |
|
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Thrombocytopenia |
OMIM:610333 |
Sebastian syndrome |
|
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies |
OMIM:605249 |
Cyclic Neutropenia |
|
Decreased eosinophil count, Peritonitis, Thrombocytopenia, Tooth abscess, Recurrent tonsillitis, ... |
ORPHA:2686 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Chronic hemolytic anemia, Reticulocytosis |
OMIM:266200 |
Refractory Anemia With Excess Blasts |
|
Leukocytosis, Bone marrow hypocellularity, Acute myeloid leukemia, Abnormal mean corpuscular volu... |
ORPHA:86839 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Bilateral microphthalmos, Anophthalmia |
OMIM:611638 |
Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, B lymphocytopen... |
OMIM:607594 |
Galactosemia Iii |
|
Splenomegaly, Hepatomegaly, Jaundice |
OMIM:230350 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... |
ORPHA:3226 |
Combined Saposin Deficiency |
|
Splenomegaly, Hepatomegaly |
OMIM:611721 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Decreased proportion of memory B cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmu... |
OMIM:615559 |
Optic Atrophy 9 |
|
Pallor |
OMIM:616289 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Elliptocytosis, Stomatoc... |
OMIM:109270 |
Beta-Ketothiolase Deficiency |
|
Thrombocytosis, Leukocytosis, Hepatomegaly |
ORPHA:134 |
Cogan Syndrome |
|
Thrombocytosis, Anemia, Leukocytosis |
ORPHA:1467 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:86893 |
Gaucher Disease, Type Iii |
|
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:231000 |
Interstitial Lung And Liver Disease |
|
Hepatic steatosis, Cholestasis, Thrombocytosis, Hepatomegaly, Anemia, Cirrhosis, Hepatic fibrosis |
OMIM:615486 |
Sandhoff Disease |
|
Splenomegaly, Hepatomegaly |
ORPHA:796 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Impaired neutrophil bactericidal activity,... |
OMIM:613470 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Anemia, Splenomegaly, Hemophagocytosis |
OMIM:618398 |
Progressive Familial Intrahepatic Cholestasis |
|
Cholestasis, Splenomegaly, Hepatomegaly, Jaundice, Abnormality of thrombocytes |
ORPHA:172 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Microcephaly, Severe intrauterine growth retardation, Intrauterine growth retardation, Small plac... |
ORPHA:73272 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... |
ORPHA:169154 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Leukopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Decreased pro... |
OMIM:613011 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Fanconi Anemia, Complementation Group T |
|
Pancytopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity |
OMIM:616435 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Leukocytosis, Anisocytosis, Chronic hemolytic anemia, Hemolytic anemia, Ellip... |
OMIM:618278 |
Babesiosis |
|
Leukopenia, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Thrombocytopenia |
ORPHA:108 |
Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... |
OMIM:187800 |
Osteopetrosis, Autosomal Dominant 3 |
|
Anemia, Splenomegaly, Hepatomegaly |
OMIM:618107 |
Griscelli Syndrome Type 2 |
|
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Lymphadenopathy |
ORPHA:79477 |
Idiopathic Hypereosinophilic Syndrome |
|
Eosinophilia, Hepatosplenomegaly, Leukocytosis, Cholangitis, Thrombocytosis, Chronic hepatitis, M... |
ORPHA:3260 |
Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, ... |
OMIM:615122 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
Elliptocytosis 1 |
|
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia |
OMIM:611804 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Acute pancreatitis, Leukopenia, Leukocytosis, Thrombocytosis, Lipid accumulation in hepatocytes, ... |
ORPHA:20 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia |
ORPHA:79312 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilia, Hepatosplenomegaly, Hepatic cysts, Eosinophilic liver infiltration |
OMIM:618999 |
Aicardi-Goutieres Syndrome 7 |
|
Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:615846 |
Poems Syndrome |
|
Polycythemia, Thrombocytosis, Visceromegaly, Lymphadenopathy, Ascites |
ORPHA:2905 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, ... |
OMIM:194380 |
Diamond-Blackfan Anemia 7 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612562 |
Portal Hypertension, Noncirrhotic, 1 |
|
Portal hypertension, Splenomegaly, Hepatomegaly |
OMIM:617068 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Chromosomal Instability With Tissue-Specific Radiosensitivity |
|
Abnormality of chromosome stability, Microcephaly |
OMIM:215510 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal hypertension, Splenomegaly, Hepatomegaly |
OMIM:610293 |
Diamond-Blackfan Anemia 1 |
|
Congenital hypoplastic anemia, Thrombocytosis, Elevated red cell adenosine deaminase level, Neutr... |
OMIM:105650 |
Autoerythrocyte Sensitization Syndrome |
|
Thrombocytosis, Autoimmune thrombocytopenia, Impaired platelet adhesion, Abnormal erythrocyte mor... |
ORPHA:324636 |
Splenoportal Vascular Anomalies |
|
Splenomegaly, Anomalous splenoportal venous system, Ascites, Cirrhosis, Hepatic fibrosis |
OMIM:271500 |
Fanconi Anemia, Complementation Group N |
|
Chromosomal breakage induced by crosslinking agents, Aplastic anemia |
OMIM:610832 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Gaucher Disease, Type Ii |
|
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:230900 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Acute myeloid leukemia, Splenomegaly, Neutrop... |
ORPHA:158057 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Chromosomal breakage induced by crosslinking agents, Cerebral atrophy |
OMIM:619060 |
Portal Hypertension, Noncirrhotic, 2 |
|
Portal hypertension, Splenomegaly, Hepatomegaly, Nodular regenerative hyperplasia of liver, Ascit... |
OMIM:619463 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphopenia |
OMIM:605309 |
Gamma-Heavy Chain Disease |
|
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenom... |
ORPHA:100026 |
Sitosterolemia 1 |
|
Abnormality of the liver, Impaired platelet aggregation, Giant platelets, Splenomegaly, Chronic h... |
OMIM:210250 |
Omenn Syndrome |
|
Abnormal lymphocyte morphology, Eosinophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, L... |
ORPHA:39041 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Microphthalmia, Anophthalmia |
OMIM:221950 |
Syndromic Diarrhea |
|
Hepatoblastoma, Abnormality of the liver, Cirrhosis, Thrombocytosis, Splenomegaly, Hepatomegaly, ... |
ORPHA:84064 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Classic Mycosis Fungoides |
|
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:2584 |
Essential Thrombocythemia |
|
Splenomegaly, Abnormality of thrombocytes, Acute leukemia, Abnormal platelet morphology |
ORPHA:3318 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Reduction of neutrophil motility, Leukocytosis, Impaired neutrophil chemotaxis, Rectal abscess, N... |
OMIM:608203 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic fibrosis, Splenomegaly, Hepatomegaly |
OMIM:616719 |
Cold Agglutinin Disease |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly, Hemolytic anemia |
ORPHA:56425 |
Shwachman-Diamond Syndrome |
|
Pancytopenia, Leukopenia, Normocytic anemia, Leukemia, Bone marrow hypocellularity, Impaired neut... |
ORPHA:811 |
Wolman Disease |
|
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites |
ORPHA:75233 |
Elliptocytosis 2 |
|
Reticulocytosis, Hemolytic anemia, Elliptocytosis |
OMIM:130600 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Eosinophilia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphadenitis, Au... |
ORPHA:331206 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... |
ORPHA:79301 |
Autoimmune Hemolytic Anemia |
|
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia |
ORPHA:98375 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:98293 |
Glut1 Deficiency Syndrome 2 |
|
Reticulocytosis |
OMIM:612126 |
Acute Panmyelosis With Myelofibrosis |
|
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Splenomegaly, Lymphocytosis, A... |
ORPHA:86843 |
Hydrolethalus |
|
Anophthalmia, Agenesis of corpus callosum, Absent septum pellucidum, Anencephaly, Microphthalmia,... |
ORPHA:2189 |
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
|
Abnormality of chromosome stability, Chromosome breakage, Leukemia |
OMIM:208910 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Bloom Syndrome |
|
Abnormality of chromosome stability, Chromosome breakage, Leukemia |
OMIM:210900 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Anemia, Splenomegaly, Ascites |
ORPHA:1046 |
Immunodeficiency 32B |
|
Splenomegaly |
OMIM:226990 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Oligohydramnios, Intrauterine growth retardation, Small placenta |
ORPHA:397590 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Scleroderma, Familial Progressive |
|
Abnormality of chromosome stability, Chromosome breakage |
OMIM:181750 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly |
OMIM:212065 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Abnormal mast cell morphology, Hepatosplenomegaly, Leukemia, Leukocytosis, Portal h... |
ORPHA:98850 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Exocrine pancreatic insufficiency, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Anemia of inadeq... |
OMIM:612714 |
Follicular Lymphoma |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of the peritoneum |
ORPHA:545 |
Brucellosis |
|
Abnormality of the liver, Leukopenia, Leukocytosis, Lung abscess, Thrombocytosis, Splenomegaly, H... |
ORPHA:1304 |
Fanconi Anemia, Complementation Group F |
|
Leukopenia, Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents, Ane... |
OMIM:603467 |
Thrombocytopenia 5 |
|
Neutropenia, Anemia, Thrombocytopenia |
OMIM:616216 |
Fanconi Anemia, Complementation Group V |
|
Neutropenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity |
OMIM:617243 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Hepatocellular Carcinoma |
|
Polycythemia, Abnormality of the liver, Portal hypertension, Thrombocytosis, Ascites, Hepatomegal... |
ORPHA:88673 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor, Cerebral cortical atrophy |
OMIM:606353 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Eosinophilia, Hepatosplenomegaly, Lymphadenitis, Autoimmune thrombocytopenia, Autoimmune hemolyti... |
ORPHA:911 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Hepatic fibrosis |
OMIM:619658 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... |
OMIM:619271 |
Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:615193 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Leukopenia, Portal hypertension, Periportal fibrosis, Splenom... |
ORPHA:64743 |
Glycogen Storage Disease Xii |
|
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... |
OMIM:611881 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor, Polymicrogyria, Focal cortical dysplasia, Hemimegalencephaly |
ORPHA:98820 |
Hereditary Elliptocytosis |
|
Cholelithiasis, Stomatocytosis, Splenomegaly, Jaundice, Prolonged neonatal jaundice, Hemolytic an... |
ORPHA:288 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28, Cerebral cortical atrophy |
ORPHA:908 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... |
ORPHA:98849 |
Macrophage Activation Syndrome |
|
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Hepatomegaly, Neutropenia, An... |
ORPHA:158061 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Hepatosplenomegaly, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Absce... |
OMIM:618935 |
Gray Platelet Syndrome |
|
Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Splenomegaly, ... |
OMIM:139090 |
Griscelli Syndrome |
|
Leukopenia, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Jaundice, Abnormality of neu... |
ORPHA:381 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
Auditory Neuropathy And Optic Atrophy |
|
Pallor |
OMIM:617717 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Reduced natural killer cell count |
OMIM:616050 |
Retinitis Pigmentosa 70 |
|
Pallor |
OMIM:615922 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia |
OMIM:253600 |
Sickle Cell Anemia |
|
Increased red cell sickling tendency, Cholelithiasis, Leukocytosis, Splenomegaly, Hepatomegaly, J... |
OMIM:603903 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Thrombocytosis, Perianal abscess, Hypochromic anemia, Leukocytosis |
OMIM:618213 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Anemia,... |
OMIM:304790 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Celiac Disease, Susceptibility To, 1 |
|
Thrombocytosis, Iron deficiency anemia, Macrocytic anemia |
OMIM:212750 |
Coproporphyria, Hereditary |
|
Splenomegaly, Hepatomegaly, Jaundice |
OMIM:121300 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor, Megaloblastic anemia, Thrombocytopenia |
ORPHA:49827 |
Dysplastic Cortical Hyperostosis |
|
Splenomegaly, Hepatomegaly |
ORPHA:2204 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly |
OMIM:618394 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Eosinophilia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Hepatitis, Lympho... |
ORPHA:169160 |
Imerslund-Gräsbeck Syndrome |
|
Pancytopenia, Hypersegmentation of neutrophil nuclei, Reticulocytosis, Megaloblastic anemia, Abno... |
ORPHA:35858 |
Gaucher Disease Type 2 |
|
Splenomegaly, Hepatomegaly |
ORPHA:77260 |
Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy |
OMIM:607271 |
Immunodeficiency 36 |
|
Chronic lymphatic leukemia, Splenomegaly, Lymphopenia |
OMIM:616005 |
Dermatitis, Atopic |
|
Pallor, Dry skin, Facial erythema |
OMIM:603165 |
Icf Syndrome |
|
Communicating hydrocephalus, Abnormality of neutrophils, Anemia, Abnormality of chromosome stabil... |
ORPHA:2268 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Splenomegaly, Hepatomegaly |
OMIM:608540 |
Spondylometaphyseal Dysplasia, Axial |
|
Splenomegaly |
OMIM:602271 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Hepatomegaly, Cholestasis |
OMIM:105200 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Occipital cortical atrophy, Anophthalmia, Hypoplasia of the corpus callosum |
ORPHA:411986 |
Tularemia |
|
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cutaneous abscess, Cervical lymphadenop... |
ORPHA:3392 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Leukocytosis, Cervical lymphadenopathy, Anemia, Acute monocytic leukemia, Lym... |
ORPHA:514 |
Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Leukocytosis, Anemia, Cardiomegaly, Congenital thrombocytopenia |
OMIM:618886 |
Cholestasis-Lymphedema Syndrome |
|
Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease |
OMIM:214900 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Eosinophilia |
OMIM:618282 |
Trisomy 13 |
|
Anophthalmia, Intrauterine growth retardation, Patent ductus arteriosus, Hydrops fetalis, Microph... |
ORPHA:3378 |
Evans Syndrome |
|
Petechiae, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of a... |
ORPHA:1959 |
Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
Trichohepatoenteric Syndrome 1 |
|
Abnormality of the pancreas, Cholestasis, Thrombocytosis, Hepatomegaly, Jaundice, Cirrhosis, Hepa... |
OMIM:222470 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28 |
OMIM:300624 |
Pfapa Syndrome |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:42642 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
Farber Lipogranulomatosis |
|
Splenomegaly, Hepatomegaly, Lipogranulomatosis |
OMIM:228000 |
Infantile Sialic Acid Storage Disease |
|
Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Ascites, Cardiomegaly |
OMIM:269920 |
Cinca Syndrome |
|
Leukocytosis, Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Anemia, Lymphadenopathy, Ab... |
ORPHA:1451 |
Fetal Gaucher Disease |
|
Pancytopenia, Splenomegaly, Hepatomegaly, Abnormality of the spleen, Thrombocytopenia |
ORPHA:85212 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Jaundice, Splenomegaly |
OMIM:608885 |
Glycogen Storage Disease Vii |
|
Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia |
OMIM:232800 |
Congenital Toxoplasmosis |
|
Cerebral calcification, Intrauterine growth retardation, Hepatomegaly, Jaundice, Microphthalmia, ... |
ORPHA:858 |
Fanconi Anemia, Complementation Group U |
|
Microcephaly, Chromosome breakage, Patent ductus arteriosus |
OMIM:617247 |
Phosphoglycerate Kinase 1 Deficiency |
|
Reticulocytosis, Hemolytic anemia |
OMIM:300653 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Adult-Onset Still Disease |
|
Leukocytosis, Bone marrow hypocellularity, Neutrophilia, Splenomegaly, Hepatomegaly, Generalized ... |
ORPHA:829 |
Retinitis Pigmentosa 27 |
|
Pallor |
OMIM:613750 |
Neonatal Lupus Erythematosus |
|
Pancytopenia, Abnormality of the liver, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Hemolyti... |
ORPHA:398124 |
Lysosomal Acid Lipase Deficiency |
|
Hepatic steatosis, Leukopenia, Hepatosplenomegaly, Periportal fibrosis, Portal hypertension, Hepa... |
OMIM:278000 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver di... |
OMIM:616828 |
Roifman Syndrome |
|
Eosinophilia, Splenomegaly, Hepatomegaly, Lymphadenopathy |
OMIM:616651 |
Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage, Bone marrow hypocellularity |
OMIM:615272 |
Microgastria-Limb Reduction Defects Association |
|
Absent gallbladder, Anophthalmia, Splenogonadal fusion, Fusion of the left and right thalami, Age... |
OMIM:156810 |
Congenital Rubella Syndrome |
|
Splenomegaly, Hepatomegaly, Jaundice, Anemia, Thrombocytopenia |
ORPHA:290 |
Nephronophthisis 19 |
|
Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Hepatic fibrosis |
OMIM:616217 |
Eosinophilic Gastroenteritis |
|
Anemia, Leukocytosis, Eosinophilia, Ascites |
ORPHA:2070 |
Cholesteryl Ester Storage Disease |
|
Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:75234 |
Kcnq2-Related Epileptic Encephalopathy |
|
Cerebral edema, Cerebral atrophy, Abnormal globus pallidus morphology, Facial erythema, Hypoplasi... |
ORPHA:439218 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphadenopathy, Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume |
OMIM:617718 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Splenomegaly, Increased mean platelet volume, Stomatocytosis |
OMIM:153670 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sclerosing cholangitis, Absence of lymph node germinal center, Chronic hepatitis, Splenomegaly, H... |
OMIM:308230 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia |
OMIM:618092 |
Immunodeficiency 89 And Autoimmunity |
|
Hypochromic microcytic anemia, Decreased eosinophil count |
OMIM:619632 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatic steatosis, Hepatosplenomegaly, Hepatomegaly, Splenomegaly |
OMIM:612526 |
Anophthalmia Plus Syndrome |
|
Spina bifida, Anophthalmia |
ORPHA:1104 |
Ataxia-Telangiectasia |
|
Abnormality of chromosome stability, Lymphopenia |
ORPHA:100 |
Mevalonic Aciduria |
|
Splenomegaly |
ORPHA:29 |
Retinitis Pigmentosa 73 |
|
Pallor |
OMIM:616544 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90037 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenop... |
OMIM:616100 |
Myelofibrosis |
|
Myeloproliferative disorder, Splenomegaly |
OMIM:254450 |
Neuroleptic Malignant Syndrome |
|
Thrombocytosis, Leukocytosis, Thrombocytopenia |
ORPHA:94093 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Felty Syndrome |
|
Abnormal lymphocyte morphology, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Neutrope... |
ORPHA:47612 |
Gaucher Disease, Type I |
|
Pancytopenia, Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia |
OMIM:230800 |
Fish-Eye Disease |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:79292 |
Roifman Syndrome |
|
Eosinophilia, Hepatosplenomegaly, Lymphadenopathy |
ORPHA:353298 |
Ghosal Hematodiaphyseal Dysplasia |
|
Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Refractory anemia |
OMIM:231095 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly |
ORPHA:664 |
Hereditary Chronic Pancreatitis |
|
Pancreatic calcification, Leukocytosis, Recurrent pancreatitis, Jaundice |
ORPHA:676 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Cerebral calcification, Megaloblastic anemia, Pallor, Thrombocytopenia |
ORPHA:90045 |
Chediak-Higashi Syndrome |
|
Leukopenia, Giant neutrophil granules, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Ne... |
OMIM:214500 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Eosinophilia |
OMIM:618523 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Microcephaly, Anemia, Pallor, Abnormal cerebral white matter morphology |
OMIM:246450 |
Neuraminidase Deficiency |
|
Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Bone-marrow foam cells, Ascites, Cardiomegaly |
OMIM:256550 |
Proteus Syndrome |
|
Splenomegaly, Lymphangioma |
OMIM:176920 |
Hemochromatosis, Type 2A |
|
Cirrhosis, Splenomegaly, Hepatomegaly |
OMIM:602390 |
Trisomy 1Q |
|
Anophthalmia, Agenesis of corpus callosum, Patent ductus arteriosus, Hydrops fetalis, Polyhydramn... |
ORPHA:261344 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eosinophilia, Cutaneous abscess |
OMIM:147060 |
Cholestasis-Lymphedema Syndrome |
|
Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Acholic sto... |
ORPHA:1414 |
Hurler-Scheie Syndrome |
|
Abnormality of the tonsils, Splenomegaly, Hepatomegaly |
ORPHA:93476 |
Wilson Disease |
|
Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Hepatitis, Acute hepa... |
ORPHA:905 |
Sézary Syndrome |
|
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:3162 |
Congenital Erythropoietic Porphyria |
|
Leukopenia, Anisocytosis, Splenomegaly, Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis,... |
ORPHA:79277 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Hepatomegaly, N... |
ORPHA:158048 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... |
OMIM:602347 |
Immunodeficiency, Common Variable, 2 |
|
Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly |
OMIM:240500 |
Spontaneous Periodic Hypothermia |
|
Pallor, Aplasia/Hypoplasia of the corpus callosum |
ORPHA:29822 |
Sclerosing Cholangitis, Neonatal |
|
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... |
OMIM:617394 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Eosinophilia, Reduced red cell adenosine deaminase level, Autoimmune thrombocytopenia, Autoimmune... |
OMIM:102700 |
Leukocyte Adhesion Deficiency |
|
Leukocytosis, Impaired neutrophil chemotaxis, Bone marrow hypocellularity, Impaired platelet aggr... |
ORPHA:2968 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Portal hypertension, Cholestasis, Splenomegaly, Hepatomegaly, Jaundice |
ORPHA:59303 |
Neu-Laxova Syndrome 1 |
|
Short umbilical cord, Intrauterine growth retardation, Patent ductus arteriosus, Agenesis of corp... |
OMIM:256520 |
Immunodeficiency 49 |
|
Eosinophilia, Lymphopenia |
OMIM:617237 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Leukocytosis |
OMIM:120100 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly |
OMIM:617388 |
Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Anophthalmia, Agenesis of corpus callosum, Microphthalmia, Microcepha... |
ORPHA:899 |
Niemann-Pick Disease, Type A |
|
Microcytic anemia, Splenomegaly, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundic... |
OMIM:257200 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor, Maternal diabetes, Hepatomegaly, Diffuse pancreatic islet hyperplasia |
ORPHA:276580 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Coloboma, Type II lissencephaly, Hydrocephalus |
ORPHA:324416 |
Fumarase Deficiency |
|
Cerebral atrophy, Hepatic failure, Agenesis of corpus callosum, Cholestasis, Open operculum, Micr... |
OMIM:606812 |
Matthew-Wood Syndrome |
|
Anophthalmia, Intrauterine growth retardation, Abnormal spleen morphology, Microphthalmia, Annula... |
ORPHA:2470 |
Cockayne Syndrome Type 2 |
|
Anophthalmia, Subcortical white matter calcifications, Intrauterine growth retardation, Hepatomegaly |
ORPHA:90322 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Reticulocytosis, Hemolytic anemia, Decreased hemoglobin concentration |
ORPHA:713 |
Immunodeficiency 25 |
|
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia |
OMIM:610163 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly |
OMIM:619183 |
Transaldolase Deficiency |
|
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Cirrhosis, Micronodular cir... |
OMIM:606003 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Macrocytic anemia |
OMIM:619046 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Thrombocytopenia |
ORPHA:169090 |
Fetal Akinesia Deformation Sequence 1 |
|
Short umbilical cord, Intrauterine growth retardation, Cavum septum pellucidum, Absent septum pel... |
OMIM:208150 |
Immunodeficiency, Common Variable, 7 |
|
Splenomegaly |
OMIM:614699 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity |
ORPHA:391 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor, Pancreatic islet-cell hyperplasia |
ORPHA:276608 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia, Jaundice |
ORPHA:90033 |
Gaucher Disease Type 1 |
|
Pancytopenia, Leukopenia, Biliary tract obstruction, Splenomegaly, Hepatomegaly, Anemia, Ascites,... |
ORPHA:77259 |
Diffuse Neonatal Hemangiomatosis |
|
Patent ductus arteriosus, Hydrops fetalis, Hepatomegaly, Anemia, Polyhydramnios, Premature birth,... |
ORPHA:2123 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Pallor, Focal pancreatic islet hyperplasia, Diffuse pancreatic islet hyperplasia |
ORPHA:276575 |
Letterer-Siwe Disease |
|
Hepatosplenomegaly, Neutropenia, Anemia, Pallor, Thrombocytopenia |
OMIM:246400 |
Erythrocytosis, Familial, 5 |
|
Increased hemoglobin, Increased hematocrit, Polycythemia |
OMIM:617907 |
Erythrocytosis, Familial, 6 |
|
Increased hemoglobin, Increased hematocrit, Polycythemia |
OMIM:617980 |
Cyclic Vomiting Syndrome |
|
Pallor, Microcephaly |
OMIM:500007 |
Microphthalmia, Isolated 3 |
|
Microphthalmia, Anophthalmia |