Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Pallor, Red... |
ORPHA:90039 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Polyclonal elevation of IgM, Monoclonal immunoglobulin M proteinemia, Leukemia, Lymphoma |
OMIM:153600 |
Diamond-Blackfan Anemia 19 |
|
Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
Immunoerythromyeloid Hypoplasia |
|
Lymphoproliferative disorder, Decreased circulating IgG level |
OMIM:242880 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Lymphoma, Hodgkin, Classic |
|
Hodgkin lymphoma, Polyclonal elevation of IgM |
OMIM:236000 |
Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Pallor, Poikilocytosis, Growth dela... |
OMIM:615234 |
Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor, Anemia, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Splenomegaly, Pallor, Anisocytosis, Anemia, Short stature, Poiki... |
OMIM:615631 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... |
OMIM:616689 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:247630 |
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia, Intrauterine growth retardation |
ORPHA:2802 |
Immunodeficiency 24 |
|
Defective T cell proliferation, Decreased circulating IgG level, Lymphoproliferative disorder, De... |
OMIM:615897 |
Chromosomal Instability With Tissue-Specific Radiosensitivity |
|
Neoplasm, Abnormality of chromosome stability |
OMIM:215510 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Immunoglobulin M, Level Of |
|
Decreased circulating total IgM |
OMIM:308250 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... |
OMIM:616452 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c... |
OMIM:619707 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Decreased mean corpuscular volume, Pallor, Hepatosplenomegaly, Anisopoikilocytosis, Dysplastic er... |
ORPHA:300298 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Decreased circulating total IgM, Reduced isohemagglutinin level,... |
OMIM:613493 |
Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Neutropenia, Pallor, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopen... |
ORPHA:35858 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly |
ORPHA:294 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
Immunodeficiency 11 |
|
Decreased circulating antibody level |
OMIM:615206 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:617765 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c... |
OMIM:613502 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Pallor, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Breath-Holding Spells |
|
Pallor, Iron deficiency anemia |
OMIM:607578 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Pallor, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:607271 |
Anemia, Sideroblastic, 1 |
|
Anemia of inadequate production, Anemic pallor, Hypochromic microcytic anemia, Macrocytic anemia,... |
OMIM:300751 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Hyperlysinemia, Type I |
|
Anemia |
OMIM:238700 |
Immunodeficiency 70 |
|
Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating total IgG... |
OMIM:618969 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Immunodeficiency 44 |
|
Decreased circulating IgA level, Decreased circulating total IgM, Abnormal circulating IgG level |
OMIM:616636 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:206100 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, B Acute Lymphoblastic Leukemia,... |
OMIM:619824 |
N Syndrome |
|
Neoplasm, Leukemia, Abnormality of chromosome stability |
OMIM:310465 |
Phosphoserine Phosphatase Deficiency |
|
Postnatal growth retardation, Intrauterine growth retardation |
OMIM:614023 |
Diamond-Blackfan Anemia 13 |
|
Normocytic anemia, Elevated red cell adenosine deaminase level |
OMIM:615909 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:618987 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating total IgM |
OMIM:613500 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... |
ORPHA:859 |
Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c... |
OMIM:612692 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM |
OMIM:606445 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgA level, Decreased circulating IgG level |
OMIM:146830 |
Elliptocytosis 1 |
|
Pallor, Elliptocytosis, Hemolytic anemia, Splenomegaly |
OMIM:611804 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia |
OMIM:205950 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Decreased cir... |
OMIM:618944 |
Developmental And Epileptic Encephalopathy 50 |
|
Anemia, Anisopoikilocytosis, Acanthocytosis, Schistocytosis |
OMIM:616457 |
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
|
Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia |
OMIM:141700 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Anemia of inadequate production, Petechiae, Congenital thrombocytopenia, Acanthocytosis, Poikiloc... |
OMIM:300367 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Mild postnatal growth retardation, Splenomegaly, Anisocytosis, S... |
OMIM:224120 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:300400 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, B-cell lymphoma, Decreased circulating IgG level, Decreased circ... |
OMIM:619924 |
Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM |
OMIM:610798 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Short stature, Pallor, Anisocytosis, Poikilocytosis, Anemia, A... |
ORPHA:98870 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Pallor, Extrame... |
ORPHA:231214 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia, Dilated cardiomyopathy |
OMIM:611283 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... |
OMIM:608106 |
Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis |
OMIM:266140 |
Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia, Multiple myeloma, Lymphoma |
ORPHA:209004 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Pallo... |
ORPHA:75564 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Hypochromic anemia, Pallor, Pappenheimer bodies, Microcytic anemia, Delayed puberty, Sideroblasti... |
OMIM:600462 |
Fanconi Anemia, Complementation Group D1 |
|
Chromosomal breakage induced by crosslinking agents, T-cell acute lymphoblastic leukemias, Acute ... |
OMIM:605724 |
Lymphoproliferative Syndrome 3 |
|
Partial absence of specific antibody response to tetanus vaccine, Lymphoproliferative disorder, H... |
OMIM:618261 |
Fetal Parvovirus Syndrome |
|
Anemia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Thrombocytopenia |
ORPHA:295 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anemia, Anisopoikilocytosis, Neutropenia |
OMIM:619835 |
Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Chromosome 5Q Deletion Syndrome |
|
Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia |
OMIM:153550 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... |
OMIM:613673 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Short stature |
ORPHA:3319 |
Myeloma, Multiple |
|
Multiple myeloma, Paraproteinemia |
OMIM:254500 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Splenomegaly, Pallor, Anisocytosis, Heinz bodies, Poikilocytosis, Fava bean-induced... |
OMIM:300908 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Splenomegaly, Pallor, Decreased hemoglobin concentration, Chronic hemolytic anemia, Reticulocytos... |
OMIM:266200 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:300861 |
Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Trimethylaminuria |
|
Splenomegaly, Tachycardia, Neutropenia, Hypertension, Anemia |
OMIM:602079 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... |
OMIM:614699 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... |
OMIM:109270 |
Fanconi Anemia, Complementation Group G |
|
Myelodysplasia, Leukemia, Abnormality of chromosome stability |
OMIM:614082 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
X-Linked Sideroblastic Anemia |
|
Pallor, Anemia, Splenomegaly |
ORPHA:75563 |
Hereditary Elliptocytosis |
|
Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemolytic anemia, Elliptocytosis, Stom... |
ORPHA:288 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Immunodeficiency 15B |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:615592 |
Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Primary Myelofibrosis |
|
Petechiae, Leukocytosis, Splenomegaly, Pallor, Extramedullary hematopoiesis, Hepatosplenomegaly, ... |
ORPHA:824 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly |
OMIM:312500 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Pallor, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia |
OMIM:616959 |
Nephronophthisis |
|
Anemia |
ORPHA:655 |
Diamond-Blackfan Anemia 9 |
|
Growth delay, Anemia |
OMIM:613308 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Anemia |
OMIM:617408 |
Congenital Atransferrinemia |
|
Anemia |
ORPHA:1195 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Stomatocytosis |
OMIM:301083 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level |
OMIM:242870 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Neonatal death |
OMIM:273680 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Reticulocytosis, Erythroid hyperplasia, Splenomegaly |
OMIM:237800 |
Immunodeficiency 14B, Autosomal Recessive |
|
Reduced natural killer cell activity, Decreased circulating IgA level, Decreased circulating IgG ... |
OMIM:619281 |
Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Decreased circulating antibody level |
OMIM:616873 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Impaired T cell function, Decreased circulating total IgM, Decre... |
OMIM:607594 |
Optic Atrophy 9 |
|
Pallor |
OMIM:616289 |
Cryohydrocytosis |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly |
OMIM:185020 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability |
OMIM:600546 |
Spherocytosis, Type 2 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:616649 |
Hydrops Fetalis, Nonimmune |
|
Anemia, Congestive heart failure |
OMIM:236750 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Partial absen... |
OMIM:301082 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:611926 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia |
OMIM:615214 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Epistaxis, Macrothrombocytopenia |
OMIM:616176 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG |
OMIM:613495 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Diamond-Blackfan Anemia 4 |
|
Short stature, Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Growth delay, Reticulocytopenia |
OMIM:612527 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... |
OMIM:605258 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Short stature, Pallor, Hepatosplenomegaly, Hemolytic anemia, R... |
OMIM:611590 |
Acute Peripheral Arterial Occlusion |
|
Pallor, Leukocytosis |
ORPHA:90064 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Pallor, Microcytic anemia, Skin ulcer, Anemia, Thrombocytopenia |
ORPHA:848 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
Immunodeficiency 54 |
|
Lymphoproliferative disorder, Chromosome breakage |
OMIM:609981 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Short stature, Spherocytosis, Splenomegaly |
ORPHA:66518 |
Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Thro... |
ORPHA:98826 |
Erythroleukemia, Familial, Susceptibility To |
|
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia |
OMIM:133180 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM |
OMIM:615139 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Hereditary Spherocytosis |
|
Spherocytosis, Splenomegaly, Pallor, Extramedullary hematopoiesis, Spontaneous hemolytic crises, ... |
ORPHA:822 |
Polyneuropathy Associated With Igm Monoclonal Gammapathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor, Megaloblastic anemia, Thrombocytopenia, Short stature |
ORPHA:49827 |
Short Stature With Microcephaly And Distinctive Facies |
|
Anemia, Anisopoikilocytosis, Severe short stature |
OMIM:615789 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level |
ORPHA:2643 |
Immunodeficiency 61 |
|
Agammaglobulinemia, Colon cancer |
OMIM:300310 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal reticulocyte morphology, Short stature |
ORPHA:2522 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Elliptocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Elliptocytosis |
OMIM:130600 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:615285 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Arrhythmia, Thrombocytopenia, Patent ductus arteriosus, Hypertension, Sideroblastic anemia, Intra... |
OMIM:617021 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor, Megaloblastic anemia, Thrombocytopenia, Pancytopenia |
OMIM:613839 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Spherocytosis, Splenomegaly |
OMIM:612653 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor, Short stature |
ORPHA:2786 |
Fanconi Anemia, Complementation Group S |
|
Ovarian neoplasm, Chromosome breakage, Breast carcinoma |
OMIM:617883 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Growth delay, Anemia, Thrombocytopenia |
ORPHA:169079 |
Hb Bart'S Hydrops Fetalis |
|
Pallor, Abnormal hemoglobin, Anemia, Splenomegaly |
ORPHA:163596 |
Whim Syndrome 1 |
|
Decreased circulating antibody level, Verrucae, Decreased circulating IgG level |
OMIM:193670 |
Acute Erythroid Leukemia |
|
Pancytopenia, Leukopenia, Anemia, Erythroid hypoplasia |
ORPHA:318 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgE, Decreased circulating IgA level, Decreased circulating IgG level, Decr... |
OMIM:618394 |
Retinohepatoendocrinologic Syndrome |
|
Pallor |
OMIM:268040 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Fanconi Anemia, Complementation Group N |
|
Chromosomal breakage induced by crosslinking agents, Nephroblastoma, Medulloblastoma, Neuroblastoma |
OMIM:610832 |
Lathosterolosis |
|
Anisopoikilocytosis, Abnormal platelet morphology, Meningocele, Thrombocytopenia, Intrauterine gr... |
ORPHA:46059 |
Fanconi Anemia, Complementation Group T |
|
Anemia, Thrombocytopenia, Short stature, Pancytopenia |
OMIM:616435 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis |
OMIM:608898 |
Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis |
ORPHA:90044 |
Rh Deficiency Syndrome |
|
Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anemia, Hemolytic anemia... |
ORPHA:71275 |
Retinitis Pigmentosa 70 |
|
Pallor |
OMIM:615922 |
Diamond-Blackfan Anemia 12 |
|
Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a... |
OMIM:615550 |
Immune Deficiency Disease |
|
Decreased circulating total IgM |
OMIM:242850 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:251190 |
Immunodeficiency 50 |
|
Decreased circulating antibody level |
OMIM:300988 |
Immunodeficiency 96 |
|
Defective T cell proliferation, Decreased circulating IgA level, Decreased circulating IgG level,... |
OMIM:619774 |
Lathosterolosis |
|
Myelomeningocele, Hepatosplenomegaly, Anisopoikilocytosis, Acanthocytosis, Schistocytosis, Increa... |
OMIM:607330 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Petechiae, Splenomegaly, Hemolytic anemia, Increased mean platelet volume, Ecchymosis, Stomatocyt... |
OMIM:153670 |
Leishmaniasis |
|
Splenomegaly, Pallor, Leukopenia, Abnormal macrophage morphology, Pancytopenia, Skin ulcer, Anemi... |
ORPHA:507 |
Bone Marrow Failure Syndrome 5 |
|
Anemia, Pure red cell aplasia, Short stature |
OMIM:618165 |
Auditory Neuropathy And Optic Atrophy |
|
Pallor |
OMIM:617717 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Squamous cell carcinoma, Decreased circulating total IgM, Increased circulating IgE level, Increa... |
OMIM:243700 |
Glutamate-Cysteine Ligase Deficiency |
|
Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis |
ORPHA:33574 |
Evans Syndrome |
|
Petechiae, Neutropenia in presence of anti-neutropil antibodies, Pallor, Autoimmune thrombocytope... |
ORPHA:1959 |
Megaloblastic Anemia, Folate-Responsive |
|
Hypersegmentation of neutrophil nuclei, Folate-responsive megaloblastic anemia, Episodic hemolyti... |
OMIM:601775 |
Fanconi Anemia, Complementation Group O |
|
Chromosome breakage |
OMIM:613390 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Spherocytosis, Splenomegaly |
OMIM:182900 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:619705 |
Immunodeficiency, Common Variable, 2 |
|
Neoplasm, Decreased circulating IgA level, Decreased circulating IgG level, Partial absence of sp... |
OMIM:240500 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Anemia of inadequate production, Reticulocytosis, Splenomegaly |
OMIM:224100 |
Bone Marrow Failure Syndrome 2 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:615715 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Epistaxis |
OMIM:314050 |
Diamond-Blackfan Anemia 5 |
|
Short stature, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia |
OMIM:612528 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgE, Decreased circulating IgA level, Decreased circulating IgG level, Decr... |
OMIM:619510 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Splenomegaly |
OMIM:179700 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Splenomegaly, Pallor, Increased red cell hemolysis by shear stress, Increased mean corpuscular he... |
OMIM:194380 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
Gaisböck Syndrome |
|
Angina pectoris, Increased hematocrit, Hypovolemia, Elevated plasma cell count, Increased mean co... |
ORPHA:90041 |
Dyskeratosis Congenita, Digenic |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:620040 |
Alpha-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism |
ORPHA:846 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly |
OMIM:185000 |
Dermatitis, Atopic |
|
Pallor, Dry skin, Facial erythema |
OMIM:603165 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level |
OMIM:233650 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
Orotic Aciduria |
|
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocytosis, Pyrimidine-r... |
OMIM:258900 |
Retinitis Pigmentosa 73 |
|
Pallor |
OMIM:616544 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Epistaxis, Neutropenia |
OMIM:616216 |
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
|
Leukemia, Chromosome breakage, Abnormality of chromosome stability |
OMIM:208910 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
Autoimmune Hemolytic Anemia |
|
Pallor, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:98375 |
Fanconi Anemia, Complementation Group V |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:617243 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28 |
OMIM:300624 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:616941 |
Rh-Null, Regulator Type |
|
Hemolytic anemia, Stomatocytosis |
OMIM:268150 |
Myelofibrosis |
|
Pallor, Myeloproliferative disorder, Purpura, Splenomegaly |
OMIM:254450 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619752 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia |
OMIM:200900 |
Retinitis Pigmentosa 27 |
|
Pallor |
OMIM:613750 |
Bleeding Disorder, Platelet-Type, 16 |
|
Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Anemia, Thrombocytopenia |
OMIM:187800 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr... |
ORPHA:70593 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Immunodeficiency 69 |
|
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
White scaling skin, Acanthocytosis |
OMIM:604777 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypertension, Anemia |
OMIM:603278 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating IgG ... |
OMIM:616100 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Facial papilloma, Increased circulating IgM level, Increased circulating IgG level |
OMIM:619220 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:612126 |
Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
Thrombotic Thrombocytopenic Purpura |
|
Arrhythmia, Myocardial infarction, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocyt... |
ORPHA:54057 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Splenomegaly, Short stature, Bone-marrow foam cells, Anemia, Thrombocytop... |
OMIM:607616 |
Immunodeficiency 14A, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Increased circu... |
OMIM:615513 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia |
OMIM:613501 |
Cold Agglutinin Disease |
|
Pallor, Hemolytic anemia, Splenomegaly |
ORPHA:56425 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Complete or near-complete absence of specific antibody response ... |
OMIM:610163 |
Nut Midline Carcinoma |
|
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... |
ORPHA:443167 |
Diamond-Blackfan Anemia 20 |
|
Anemia, Erythroid hypoplasia |
OMIM:618313 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:908 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor, Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90037 |
Hypocalcemia, Autosomal Dominant 2 |
|
Postnatal growth retardation |
OMIM:615361 |
Malaria |
|
Anemia, Thrombocytopenia |
ORPHA:673 |
Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage |
OMIM:615272 |
Immunodeficiency 64 |
|
Decreased lymphocyte proliferation in response to mitogen, B-cell lymphoma, Increased circulating... |
OMIM:618534 |
Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... |
OMIM:159550 |
Idiopathic Aplastic Anemia |
|
Retinal hemorrhage, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Epistaxis, Reticulocytop... |
ORPHA:88 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, B-cell lymphoma, Hodgkin lymphoma, Lymphop... |
OMIM:300853 |
Formiminoglutamic Aciduria |
|
Megaloblastic anemia, Anemia |
ORPHA:51208 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Anemia |
OMIM:618182 |
Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Growth delay, Anemia, Thrombocytopenia |
OMIM:611490 |
Colchicine Poisoning |
|
Leukocytosis, Hypovolemia, Arrhythmia, Cardiogenic shock, Hypotension, Myocarditis, Congestive he... |
ORPHA:31824 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Asplenia, Short stature |
ORPHA:3204 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level |
OMIM:609529 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Hemochromatosis, Type 2B |
|
Anemia, Splenomegaly, Cardiomyopathy, Congestive heart failure |
OMIM:613313 |
Acute Adrenal Insufficiency |
|
Orthostatic hypotension, Hypovolemia, Normocytic anemia, Hypotension, Myocardial infarction, Dela... |
ORPHA:95409 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Decreased circulating total IgM |
OMIM:614878 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Growth delay, Anemia |
ORPHA:79402 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Ataxia-Pancytopenia Syndrome |
|
Decreased circulating antibody level, Abnormal platelet function, Acute myelomonocytic leukemia |
ORPHA:2585 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:615577 |
Letterer-Siwe Disease |
|
Pallor, Hepatosplenomegaly, Neutropenia, Anemia, Thrombocytopenia |
OMIM:246400 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Decre... |
ORPHA:331206 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Short stature, Intrauterine growth retardation, Neutropenia |
OMIM:617056 |
Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia |
OMIM:300653 |
Autoimmune Lymphoproliferative Syndrome |
|
Non-Hodgkin lymphoma, Basal cell carcinoma, T-cell lymphoma, Bone marrow hypocellularity, Neoplas... |
ORPHA:3261 |
Aregenerative Anemia |
|
Abnormal proportion of CD8-positive T cells, Neutropenia, Pallor, Erythroid hypoplasia, Decreased... |
ORPHA:101096 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Reticulocytosis, Normochromic a... |
OMIM:235700 |
Sneddon Syndrome |
|
Decreased circulating total IgM |
OMIM:182410 |
Bloom Syndrome |
|
Neoplasm of the colon, Esophageal neoplasm, Malignant genitourinary tract tumor, Neoplasm, Decrea... |
ORPHA:125 |
Transcobalamin Ii Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:275350 |
Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, P... |
ORPHA:231222 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating antibody level |
OMIM:614069 |
Bone Marrow Failure Syndrome 4 |
|
Short stature, Leukopenia, Rhizomelia, Anemia, Thrombocytopenia |
OMIM:618116 |
Attrv122I Amyloidosis |
|
Angina pectoris, Atrial arrhythmia, Aortic valve stenosis, Restrictive cardiomyopathy, Arrhythmia... |
ORPHA:85451 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Burkitt lymphoma, Decreased circulating IgG level, Lymphoma, Reduced natural killer cell activity... |
OMIM:308240 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Pallor, Anisocytosis, Extramedullary hematopoies... |
ORPHA:231226 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocytosis |
OMIM:232800 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
ORPHA:90362 |
Myoclonus, Intractable, Neonatal |
|
Pallor |
OMIM:617235 |
Immunodeficiency 46 |
|
Anemia, Intermittent thrombocytopenia, Neutropenia |
OMIM:616740 |
Fanconi Anemia, Complementation Group U |
|
Chromosome breakage |
OMIM:617247 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration |
|
Acanthocytosis |
OMIM:607236 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Splenomegaly, Pallor, Myeloproliferative disorder, Abnormal neutrophil count, Throm... |
ORPHA:3226 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia |
OMIM:603552 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
Lysosomal Acid Lipase Deficiency |
|
Vacuolated lymphocytes, Hypovolemia, Hepatosplenomegaly, Hypotension, Bone-marrow foam cells, Ane... |
ORPHA:275761 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Short stature |
OMIM:615925 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Anemia |
ORPHA:371 |
Alpha-Heavy Chain Disease |
|
Growth delay, Anemia, Splenomegaly |
ORPHA:100025 |
Rosaï-Dorfman Disease |
|
Anemia |
ORPHA:158014 |
Cyclic Vomiting Syndrome |
|
Pallor, Growth delay |
OMIM:500007 |
Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
Mu-Heavy Chain Disease |
|
Anemia, Abnormal B cell count, Splenomegaly |
ORPHA:100024 |
Sitosterolemia 1 |
|
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Chronic hemolytic anemia, Giant platele... |
OMIM:210250 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphoproliferative disorder, D... |
OMIM:614700 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Neonatal death, Anemia, Intrauterine growth retardation, Cardiomyopathy |
OMIM:618839 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Anemia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Neonatal death |
OMIM:618835 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Pallor, Eosinophilia, Pancytopenia, Thrombocytopenia |
ORPHA:90045 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Anisocytosis, Hepatosplenomegaly, A... |
OMIM:616860 |
Dohle Bodies And Leukemia |
|
Leukocyte inclusion bodies, Anemia, Acute myeloid leukemia |
OMIM:223350 |
Diffuse Neonatal Hemangiomatosis |
|
Anemia, Thrombocytopenia, Patent ductus arteriosus |
ORPHA:2123 |
Plummer-Vinson Syndrome |
|
Pallor, Hypochromic microcytic anemia, Iron deficiency anemia |
ORPHA:54028 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor, Autoimmune hemolytic anemia |
ORPHA:90036 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Marburg Hemorrhagic Fever |
|
Lymphopenia, Hypovolemia, Leukopenia, Tachycardia, Reticulocytosis, Hypotension, Abnormal lymphoc... |
ORPHA:99826 |
Abetalipoproteinemia |
|
Acanthocytosis |
OMIM:200100 |
Agammaglobulinemia, X-Linked |
|
Decreased circulating IgA level, Decreased circulating IgG level, Complete or near-complete absen... |
OMIM:300755 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Thrombocytopenia, Splenomegaly |
OMIM:615085 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90033 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Intrauterine growth retardation |
OMIM:618838 |
Congenital Rubella Syndrome |
|
Short stature, Splenomegaly, Patent ductus arteriosus, Anemia, Thrombocytopenia, Intrauterine gro... |
ORPHA:290 |
Thymoma |
|
Neoplasm, Abnormal lymphocyte physiology, Neoplasm of the lung, Non-Hodgkin lymphoma, Neoplasm of... |
ORPHA:99867 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Anemic pallor, Abnormal mean corpuscular volume, T... |
ORPHA:86839 |
Hemochromatosis, Type 4 |
|
Anemia, Arrhythmia, Cardiomyopathy |
OMIM:606069 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Pallor |
OMIM:608423 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating IgG ... |
OMIM:619802 |
Hemochromatosis, Type 3 |
|
Anemia, Lymphopenia, Cardiomyopathy, Neutropenia |
OMIM:604250 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... |
OMIM:308230 |
Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:618892 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemia, Growth delay, Anemic pallor |
ORPHA:329971 |
Lesch-Nyhan Syndrome |
|
Anemia |
ORPHA:510 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
B-cell lymphoma, Decreased circulating IgA level, Absent specific antibody response, Decreased ci... |
OMIM:102700 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
Bloom Syndrome |
|
Chromosome breakage, Lymphoma, Squamous cell carcinoma, Leukemia, Abnormality of chromosome stabi... |
OMIM:210900 |
Senior-Loken Syndrome 4 |
|
Anemia |
OMIM:606996 |
Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Acanthocytosis, Poikilocytosis, Umbilical hernia, Premature skin wrinkling, Gr... |
OMIM:618947 |
Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hypovolemia, Growth delay, Hypotension |
ORPHA:427 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Pallor, Myeloproliferati... |
ORPHA:98849 |
Ataxia-Telangiectasia |
|
Neoplasm, Abnormality of chromosome stability |
ORPHA:100 |
Immunodeficiency 48 |
|
Panhypogammaglobulinemia |
OMIM:269840 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:613101 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Schistocytosis, Purpura, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia |
OMIM:235400 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Increased circulating IgE level, Reduced delayed hypersensitivity, Increased circulating IgM leve... |
OMIM:617241 |
Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level |
OMIM:312863 |
Cocaine Intoxication |
|
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Diffuse alveolar hemorrh... |
ORPHA:90068 |
Amed Syndrome, Digenic |
|
Short stature, Leukopenia, Anemia, Thrombocytopenia, Acute myeloid leukemia |
OMIM:619151 |
Autoinflammation With Infantile Enterocolitis |
|
Splenomegaly, Short stature, Thrombocytopenia, Pancytopenia, Anemia, Diffuse alveolar hemorrhage,... |
OMIM:616050 |
Transaldolase Deficiency |
|
Anemia, Telangiectasia, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:101028 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Epistaxis |
OMIM:612840 |
Stormorken Syndrome |
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Short stature, Anemia, Thrombocytopenia, Epistaxis, Asplenia, Howell-Jolly bodies |
OMIM:185070 |
Neonatal Lupus Erythematosus |
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Neutropenia, Splenomegaly, Arrhythmia, Aplastic anemia, Hemolytic anemia, Abnormal electrophysiol... |
ORPHA:398124 |
Nephrogenic Diabetes Insipidus |
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Hypovolemia, Growth delay, Short stature |
ORPHA:223 |
Vitamin B12-Responsive Methylmalonic Acidemia |
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Anemia |
ORPHA:28 |
Spontaneous Periodic Hypothermia |
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Pallor |
ORPHA:29822 |
Immunodeficiency, Common Variable, 11 |
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Increased circulating IgE level, Decreased circulating IgG level |
OMIM:615767 |
Fanconi Anemia, Complementation Group I |
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Chromosomal breakage induced by crosslinking agents |
OMIM:609053 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
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Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Growth delay, Sid... |
OMIM:616084 |
Immunodeficiency 36 |
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Decreased circulating IgA level, B-cell lymphoma, Decreased circulating IgG level, Chronic lympha... |
OMIM:616005 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
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Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616910 |
Immunodeficiency 37 |
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Decreased circulating antibody level |
OMIM:616098 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
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Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia |
OMIM:616738 |
Familial Benign Copper Deficiency |
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Anemia, Short stature |
ORPHA:1551 |
Peripartum Cardiomyopathy |
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Left bundle branch block, Abnormal T-wave, Anemia, Mitral regurgitation, Right ventricular failur... |
ORPHA:563 |
Bone Marrow Failure Syndrome 6 |
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Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia |
OMIM:618849 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Abnormal left ventricular function, Hypovolemia, Subarachnoid hemorrhage, Aortic regurgitation, P... |
ORPHA:91387 |
Oslam Syndrome |
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Anemia |
OMIM:165660 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
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Pallor, Anemia |
OMIM:246450 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
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Hemolytic anemia, Decreased hemoglobin concentration, Reticulocytosis |
ORPHA:713 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomegaly, Hemolytic anem... |
OMIM:618278 |
Amme Complex |
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Elliptocytosis, Intrauterine growth retardation, Umbilical hernia |
OMIM:300194 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
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Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... |
ORPHA:221139 |
Ectodermal Dysplasia And Immunodeficiency 1 |
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Increased circulating IgA level, Abnormal circulating IgG level, Reduced natural killer cell acti... |
OMIM:300291 |
Riddle Syndrome |
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Decreased circulating IgG level |
OMIM:611943 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
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Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:617744 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
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Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia, Cardiomyopathy |
ORPHA:27 |
Lymphoproliferative Syndrome 2 |
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Decreased lymphocyte proliferation in response to mitogen, Hodgkin lymphoma, Lymphoproliferative ... |
OMIM:615122 |
Immunoneurologic Disorder, X-Linked |
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Decreased circulating IgG2 level |
OMIM:300076 |
Retinitis Pigmentosa 51 |
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Pallor |
OMIM:613464 |
Neuronal Intestinal Pseudoobstruction |
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Decreased circulating antibody level |
ORPHA:99811 |
Immunodeficiency, Common Variable, 6 |
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Decreased specific pneumococcal antibody level, Complete or near-complete absence of specific ant... |
OMIM:613496 |
Diamond-Blackfan Anemia 11 |
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Anemia of inadequate production, Anemia, Short stature, Neutropenia |
OMIM:614900 |
X-Linked Lymphoproliferative Disease |
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B-cell lymphoma, Burkitt lymphoma, Decreased circulating IgA level, Decreased circulating IgG lev... |
ORPHA:2442 |
Idiopathic Pulmonary Hemosiderosis |
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Pallor, Hepatosplenomegaly, Iron deficiency anemia |
ORPHA:99931 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... |
ORPHA:35078 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
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Absent specific antibody response, Decreased circulating antibody level |
OMIM:619846 |
Diamond-Blackfan Anemia 10 |
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Steroid-responsive anemia, Short stature, Macrocytic anemia, Patent ductus arteriosus, Growth del... |
OMIM:613309 |
Hyperinsulinism Due To Ucp2 Deficiency |
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Pallor |
ORPHA:276556 |
Selective Igm Deficiency |
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Multiple myeloma, Thyroid carcinoma, Stomach cancer, Decreased circulating total IgM, Non-Hodgkin... |
ORPHA:331235 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
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Anemia |
ORPHA:2668 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Postnatal growth retardation, Short stature, Acanthocytosis, Abnormal erythrocyte morphology |
ORPHA:96180 |
Schnitzler Syndrome |
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Increased circulating IgM level, Lymphoma |
ORPHA:37748 |
Chylomicron Retention Disease |
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Growth delay, Acanthocytosis |
ORPHA:71 |
Gaucher Disease, Type I |
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Aortic valve stenosis, Splenomegaly, Mitral regurgitation, Thrombocytopenia, Pancytopenia, Hypert... |
OMIM:230800 |
Sickle Cell Anemia |
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Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Increased red cell sickling tendency |
OMIM:603903 |
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
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Transient hypogammaglobulinemia of infancy |
OMIM:251240 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Schistocytosis |
OMIM:274150 |
Microvillus Inclusion Disease |
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Hypovolemia |
ORPHA:2290 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Decreased specific pneumococcal antibody level |
OMIM:617006 |
Blackfan-Diamond Anemia |
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Increased mean corpuscular volume, Neutropenia, Short stature, Pallor, Persistence of hemoglobin ... |
ORPHA:124 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor |
ORPHA:276575 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
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Short stature, Hepatosplenomegaly, Spontaneous hemolytic crises, Stomatocytosis, Postnatal growth... |
ORPHA:168577 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
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Anemia, Hypertension, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:612922 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
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Decreased circulating IgA level, Decreased circulating IgG level, Decreased specific pneumococcal... |
ORPHA:183675 |
Mogs-Cdg |
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Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating IgG ... |
ORPHA:79330 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Anemia |
OMIM:613092 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
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Pallor |
ORPHA:276580 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
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Bone marrow hypocellularity, Myelodysplasia, Decreased circulating antibody level |
OMIM:619767 |
Secondary Intestinal Lymphangiectasia |
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Decreased circulating IgA level, B-cell lymphoma, Decreased circulating total IgM, Lymphoma, Decr... |
ORPHA:90363 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
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Anemia, Hypertension, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
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Anemia, Hypertension, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
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Anemia, Hypertension, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:612926 |
Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
Osteopetrosis, Autosomal Dominant 3 |
|
Anemia, Splenomegaly |
OMIM:618107 |
Hydatidiform Mole |
|
Anemia |
ORPHA:99927 |
Pearson Marrow-Pancreas Syndrome |
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Hypoplastic anemia, Neutropenia, Sideroblastic anemia, Pallor, Refractory sideroblastic anemia, E... |
OMIM:557000 |
Autoimmune Lymphoproliferative Syndrome |
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Increased circulating IgA level, Increased circulating IgG level, Decreased lymphocyte apoptosis,... |
OMIM:601859 |
Arteriosclerosis, Severe Juvenile |
|
Short stature, Myocardial infarction, Delayed puberty, Hypertension, Anemia |
OMIM:208060 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
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Decreased circulating antibody level |
ORPHA:85317 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Ovarian Hyperstimulation Syndrome |
|
Hypovolemia, Capillary leak |
ORPHA:64739 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Fanconi Anemia, Complementation Group E |
|
Neutropenia, Short stature, Anemic pallor, Thrombocytopenia, Pancytopenia, Anemia, Leukemia, Reti... |
OMIM:600901 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... |
OMIM:617062 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Decre... |
ORPHA:508533 |
Wolman Disease |
|
Growth delay, Anemia, Bone-marrow foam cells, Splenomegaly |
ORPHA:75233 |
Immunodeficiency 47 |
|
Decreased circulating total IgA, Decreased circulating total IgM, Chronic decreased circulating t... |
OMIM:300972 |
Fanconi Anemia, Complementation Group L |
|
Chromosomal breakage induced by crosslinking agents, Chromosome breakage |
OMIM:614083 |
Transaldolase Deficiency |
|
Telangiectasia, Splenomegaly, Hepatosplenomegaly, Patent ductus arteriosus, Pancytopenia, Anemia,... |
OMIM:606003 |
Pseudo-Torch Syndrome 3 |
|
Cerebral hemorrhage, Leukocytosis, Congenital thrombocytopenia, Hypertension, Anemia |
OMIM:618886 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anemia, Hypertension, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:612925 |
Hypobetalipoproteinemia, Familial, 1 |
|
Acanthocytosis |
OMIM:615558 |
Congenital Factor Ii Deficiency |
|
Joint hemorrhage, Intracranial hemorrhage, Anemia, Epistaxis |
ORPHA:325 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Tricuspid regurgitation, Short stature, Leukopenia, B lymphocytopenia, Rhizomelic ar... |
ORPHA:508542 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Omenn Syndrome |
|
Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia... |
OMIM:603554 |
Copper Deficiency, Familial Benign |
|
Anemia |
OMIM:121270 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ... |
OMIM:600903 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Anemia, Hemophagocytosis, Splenomegaly |
OMIM:618398 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
Solitary Rectal Ulcer Syndrome |
|
Anemia, Hematochezia |
ORPHA:209964 |
Sepsis In Premature Infants |
|
Petechiae, Leukocytosis, Splenomegaly, Pallor, Purpura, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:90051 |
Fanconi Anemia, Complementation Group A |
|
Neutropenia, Short stature, Anemic pallor, Thrombocytopenia, Pancytopenia, Anemia, Leukemia, Reti... |
OMIM:227650 |
Fanconi Anemia, Complementation Group C |
|
Neutropenia, Short stature, Anemic pallor, Thrombocytopenia, Pancytopenia, Anemia, Leukemia, Intr... |
OMIM:227645 |
Kenny-Caffey Syndrome, Type 1 |
|
Proportionate short stature, Anemia, Birth length less than 3rd percentile, Intrauterine growth r... |
OMIM:244460 |
Lambert Syndrome |
|
Decreased circulating antibody level |
ORPHA:1296 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
OMIM:612301 |
Severe Hemophilia A |
|
Joint hemorrhage, Subdural hemorrhage, Intracranial hemorrhage, Epidural hemorrhage, Gastrointest... |
ORPHA:169802 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased circulating antibody level |
OMIM:301045 |
Fabry Disease |
|
Angina pectoris, Anemia, Arrhythmia, Myocardial infarction, Delayed puberty, Hypertension, Transi... |
OMIM:301500 |
Lymphoproliferative Syndrome 1 |
|
B-cell lymphoma, Hodgkin lymphoma, Decreased circulating IgG level, Lymphoproliferative disorder,... |
OMIM:613011 |
Immunodeficiency 55 |
|
Neutropenia, Lymphopenia, Short stature, Dry skin, Absent natural killer cells, Postnatal growth ... |
OMIM:617827 |
Choreoacanthocytosis |
|
Acanthocytosis |
OMIM:200150 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Anemia of inadequate production, Anemia, Splenomegaly |
OMIM:612714 |
8P11.2 Deletion Syndrome |
|
Spherocytosis, Short stature, Splenomegaly, Hemolytic anemia, Growth delay |
ORPHA:251066 |
Neutrophilic Dermatosis, Acute Febrile |
|
Anemia, Dilated cardiomyopathy, Small vessel vasculitis |
OMIM:608068 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Hypovolemia, Intrauterine growth retardation |
ORPHA:99885 |
Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Pallor |
ORPHA:439218 |
Lig4 Syndrome |
|
Acute leukemia, Abnormality of chromosome stability, Lymphoma |
ORPHA:99812 |
Fumarase Deficiency |
|
Pallor, Polycythemia |
OMIM:606812 |
Thymic Tumor |
|
Neuroendocrine neoplasm, Neoplasm of the thymus, Dysgammaglobulinemia |
ORPHA:100100 |
Wiskott-Aldrich Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ... |
OMIM:301000 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Abnormal circulating IgM level, Increased circulating IgA level, Increased circulating IgG level |
OMIM:618048 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Short stature, Anemia, Thrombocytopenia, Intrauterine growth retar... |
ORPHA:3322 |
Nephronophthisis 1 |
|
Hypertension, Anemia, Growth delay |
OMIM:256100 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Anemia |
ORPHA:3405 |
Waldenström Macroglobulinemia |
|
Splenomegaly, Pallor, Normocytic anemia, Abnormality of neutrophils, Purpura, Leukemia |
ORPHA:33226 |
American Trypanosomiasis |
|
Pallor, Splenomegaly |
ORPHA:3386 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Panhypogammaglobulinemia |
OMIM:601457 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Fibroma, Decreased circulating antibody level |
OMIM:619750 |
Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Decre... |
ORPHA:276 |
Fanconi Anemia, Complementation Group F |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:603467 |
Icf Syndrome |
|
Lymphopenia, Short stature, Abnormality of neutrophils, Umbilical hernia, Anemia |
ORPHA:2268 |
Immunodeficiency 52 |
|
Decreased circulating antibody level |
OMIM:617514 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Delayed puberty, Hypovolemia, Hypotension |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Delayed puberty, Hypovolemia, Hypotension |
ORPHA:289548 |
Immunodeficiency 57 With Autoinflammation |
|
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... |
OMIM:618108 |
Cowden Syndrome 1 |
|
Breast carcinoma, Fibroadenoma of the breast, Hamartomatous polyposis, Decreased circulating anti... |
OMIM:158350 |
Nephronophthisis 4 |
|
Growth delay, Anemia |
OMIM:606966 |
Mcleod Syndrome |
|
Acanthocytosis, Splenomegaly |
OMIM:300842 |
Diamond-Blackfan Anemia 1 |
|
Congenital hypoplastic anemia, Pallor, Short stature, Thrombocytosis, Neutropenia, Thrombocytopen... |
OMIM:105650 |
Gamma-Heavy Chain Disease |
|
Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmune hemolytic a... |
ORPHA:100026 |
Simple Cryoglobulinemia |
|
B-cell lymphoma, Multiple myeloma, Complement deficiency, Monoclonal elevation of circulating IgA... |
ORPHA:91139 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgA level, Verrucae, Decreased circulating IgG level |
ORPHA:275 |
Alopecia Antibody Deficiency |
|
Decreased circulating antibody level |
ORPHA:1006 |
Meningioma |
|
Spinal meningioma, Chromosomal breakage induced by ionizing radiation, Neurofibromas, Intracrania... |
ORPHA:2495 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Decreased circulating antibody level |
OMIM:300635 |
Reticular Dysgenesis |
|
Decreased circulating antibody level |
ORPHA:33355 |
Fanconi Anemia, Complementation Group D2 |
|
Chromosomal breakage induced by crosslinking agents, Leukemia |
OMIM:227646 |
Riddle Syndrome |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM |
ORPHA:420741 |
Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level |
OMIM:152800 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|