Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:609820 |
Erythrocytosis, Familial, 5 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617907 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Hyperproteinemia, Increased circulating IgG level,... |
ORPHA:29073 |
Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:611783 |
Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617980 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Neutropenia, Abnormal T cell subset distribution, H... |
ORPHA:158048 |
Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased hematocrit |
OMIM:617981 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Decreased circulating IgG level, Hypoalbuminemia, Hypoproteinemia, Neutropenia |
OMIM:600351 |
Dehydrated Hereditary Stomatocytosis |
|
Increased circulating ferritin concentration, Anemia of inadequate production, Increased mean cor... |
ORPHA:3202 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly |
OMIM:133100 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Failure to thrive, Splenomegaly, Extramedullary hematopoies... |
OMIM:615285 |
Diffuse Neonatal Hemangiomatosis |
|
Anemia, Thrombocytopenia, Hypercalcemia |
ORPHA:2123 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... |
OMIM:613673 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Decreased cir... |
OMIM:618944 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Rhabdoid Tumor |
|
Weight loss, Anemia, Thrombocytopenia, Hypercalcemia |
ORPHA:69077 |
Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Failure to thrive, Increased hemoglobin, Increased hematocrit |
OMIM:263400 |
Gaisböck Syndrome |
|
Increased hematocrit, Hyperproteinemia, Elevated plasma cell count, Increased circulating renin l... |
ORPHA:90041 |
Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Immunodeficiency 27A |
|
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Increased circulating IgG level, T... |
OMIM:209950 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Anemia, Hypercalcemia |
ORPHA:2668 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Decreased circulating IgG level, Lymphopenia |
OMIM:152800 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Lymphopenia, Decreased circulating IgA level, Hypoproteinemia, Decr... |
ORPHA:90362 |
Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
Omenn Syndrome |
|
Failure to thrive, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe ... |
OMIM:603554 |
Enterokinase Deficiency |
|
Failure to thrive, Hypoproteinemia |
OMIM:226200 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Trypsinogen Deficiency |
|
Failure to thrive, Hypoproteinemia |
OMIM:614044 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Decreased circulating antibody level, Lymphopenia, Hypoproteinemia |
ORPHA:1116 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... |
OMIM:616050 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, T lymphocytopenia |
DECIPHER:16 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
Tempi Syndrome |
|
Polycythemia, Increased circulating IgG level, Increased hematocrit |
ORPHA:284227 |
Malaria |
|
Anemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia |
ORPHA:673 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... |
OMIM:308240 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Abnormal natural ki... |
OMIM:613101 |
Hypophosphatasia |
|
Anemia, Failure to thrive in infancy, Hypercalcemia |
ORPHA:436 |
Leishmaniasis |
|
Increased circulating antibody level, Splenomegaly, Leukopenia, Abnormal macrophage morphology, W... |
ORPHA:507 |
Immunodeficiency 43 |
|
Decreased circulating IgG level, Hypoalbuminemia, Hypoproteinemia |
OMIM:241600 |
Blue Diaper Syndrome |
|
Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Increased LDL c... |
OMIM:267700 |
Alpha-Heavy Chain Disease |
|
Anemia, Hypocalcemia, Dysgammaglobulinemia, Splenomegaly |
ORPHA:100025 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Ane... |
OMIM:205950 |
Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
Atypical Hemolytic Uremic Syndrome |
|
Decreased serum complement factor B, Decreased serum complement factor I, Complement deficiency, ... |
ORPHA:2134 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Transcobalamin Deficiency |
|
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre... |
ORPHA:859 |
Thrombocytopenia 7 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619130 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Failure to thrive, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoal... |
OMIM:619868 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Iron deficiency anemia, Thrombocytosis, Decreased circulating antibody level, Hy... |
OMIM:226300 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo... |
OMIM:212050 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Hemophagocytosi... |
OMIM:603553 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Erythroid hyp... |
OMIM:237800 |
Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia |
OMIM:141000 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... |
ORPHA:86839 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Hypoproteinemia |
OMIM:207731 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... |
ORPHA:169079 |
Fanconi Anemia, Complementation Group V |
|
Elevated alpha-fetoprotein, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia |
OMIM:617243 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Ménétrier Disease |
|
Hypochromic microcytic anemia, Weight loss, Hypoalbuminemia, Hypoproteinemia |
ORPHA:2494 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... |
OMIM:603552 |
Hypermanganesemia With Dystonia 1 |
|
Increased total iron binding capacity, Hypermanganesemia, Unconjugated hyperbilirubinemia, Polycy... |
OMIM:613280 |
Amegakaryocytic Thrombocytopenia, Congenital |
|
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia |
OMIM:604498 |
Immunodeficiency 69 |
|
Increased circulating ferritin concentration, Failure to thrive, Leukocytosis, Splenomegaly, Hepa... |
OMIM:618963 |
Progressive Familial Intrahepatic Cholestasis |
|
Abnormality of thrombocytes, Hypocalcemia, Failure to thrive, Splenomegaly |
ORPHA:172 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 27 concentration, Elevated circulating C-reactive protein concent... |
OMIM:619632 |
Immunodeficiency 46 |
|
Failure to thrive, Decreased circulating antibody level, Intermittent thrombocytopenia, Neutropen... |
OMIM:616740 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia, Defective T cell proliferation, R... |
OMIM:614493 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... |
OMIM:187800 |
Congenital Analbuminemia |
|
Increased circulating antibody level, Hyperlipidemia, Hypoproteinemia, Small for gestational age,... |
ORPHA:86816 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Decreased HDL chol... |
OMIM:607616 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Lymphoproliferative Syndrome 1 |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:613011 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... |
OMIM:247630 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Hyperbilirubinemia, Splenomegaly |
OMIM:179700 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr... |
OMIM:619824 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Decreased ... |
OMIM:618987 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microcytic anemia, Hypoalbuminemia, Failure to thrive in infancy |
OMIM:618805 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Abnormality of tumor necrosis factor secretion, Inc... |
ORPHA:158061 |
Erythrocytosis, Familial, 8 |
|
Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, Normochromic anemia |
OMIM:222800 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... |
ORPHA:98826 |
Bone Marrow Failure Syndrome 2 |
|
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia |
OMIM:615715 |
Erythroleukemia, Familial, Susceptibility To |
|
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia |
OMIM:133180 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Hypoalbuminemia |
ORPHA:88643 |
Hypervitaminosis A, Susceptibility To |
|
Hypercalcemia |
OMIM:240150 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Failure to thrive, Hypercalcemia |
OMIM:239199 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells... |
OMIM:617241 |
Caspase 8 Deficiency |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95... |
OMIM:607271 |
Chylomicron Retention Disease |
|
Failure to thrive, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceride... |
OMIM:246700 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia... |
OMIM:619041 |
Immunodeficiency, Common Variable, 11 |
|
Failure to thrive, Decreased proportion of class-switched memory B cells, Decreased circulating I... |
OMIM:615767 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Blue Diaper Syndrome |
|
Increased body weight, Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Failure to thrive, Elevated circulating C-reactive protein concentration, Increased circulating I... |
OMIM:618048 |
Forsythe-Wakeling Syndrome |
|
Decreased body weight, Thrombocytopenia |
OMIM:613606 |
Pericardial Effusion, Chronic |
|
Polycythemia |
OMIM:260900 |
Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Hyperparathyroidism, Neonatal Severe |
|
Failure to thrive, Hypophosphatemia, Splenomegaly, Hypercalcemia, Calcinosis, Anemia |
OMIM:239200 |
Fanconi Anemia, Complementation Group T |
|
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Pancytopenia |
OMIM:616435 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:124900 |
Eosinophilic Gastroenteritis |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Weight loss, H... |
ORPHA:2070 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
Dengue Fever |
|
Leukopenia, Thrombocytopenia, Hypoproteinemia |
ORPHA:99828 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Eosinophilia, Increased circulating IgG level, T lymphocytopenia... |
OMIM:610163 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Failure to thrive, Elevated circulating creatine kinase concentration, Thrombocytopenia |
OMIM:614727 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Anemia, Failure to thrive, Hypercalcemia |
OMIM:241500 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
Nephrotic Syndrome, Type 1 |
|
Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia, Small for gestational age |
OMIM:256300 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... |
OMIM:616452 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
Abcd Syndrome |
|
Polycythemia, Large for gestational age |
OMIM:600501 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
Severe Combined Immunodeficiency, X-Linked |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Hypoplasia o... |
OMIM:300400 |
Sitosterolemia 1 |
|
Episodic hemolytic anemia, Stomatocytosis, Splenomegaly, Anemia, Impaired platelet aggregation, C... |
OMIM:210250 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Erythroid hyperplasia |
OMIM:301083 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Congenital Lethal Erythroderma |
|
Failure to thrive, Hypoalbuminemia |
ORPHA:1954 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level, Splenomegaly |
OMIM:612126 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly... |
OMIM:619924 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Failure to thrive, Lymphopenia, B lymphocytopenia, Abnormality of humora... |
ORPHA:277 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... |
OMIM:616689 |
Platelet Signal Processing Defect |
|
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... |
OMIM:173590 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... |
ORPHA:169154 |
Folate Malabsorption, Hereditary |
|
Failure to thrive, Leukopenia, Neutropenia, Thrombocytopenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Weight loss, Abnormal circulating polysaccharide conc... |
ORPHA:103910 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Abnormality of tumor necrosis factor secretion, Inc... |
ORPHA:540 |
Hypercalcemia, Infantile, 1 |
|
Infantile hypercalcemia, Weight loss, Failure to thrive |
OMIM:143880 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Abnormality of iron homeostasis, Microcytic anemia, Anemia, Th... |
ORPHA:848 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Decreased s... |
ORPHA:231111 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Dec... |
OMIM:619281 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Reduced C-peptide level, Small for gestational age |
OMIM:618858 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Leukemia, Neutropenia |
OMIM:614082 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Decreased circulating IgA level, Neutropenia in pre... |
OMIM:619802 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Hypocalcemia, Weight loss, Neutropenia, Agammaglobulinemia, Anemia, Thrombocyt... |
ORPHA:47 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Obesity, Episodic hemolytic anemia, Increased blood urea nitrogen, Hypercalcemia |
ORPHA:251004 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Hypoalbuminemia |
OMIM:617156 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:613502 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss, Hypercalcemia, Hypernatremia |
ORPHA:35710 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... |
OMIM:202700 |
Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Decreased serum creatinine |
ORPHA:54057 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... |
ORPHA:158057 |
Fumarase Deficiency |
|
Polycythemia, Failure to thrive, Hyperbilirubinemia |
OMIM:606812 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
Hepatocellular Carcinoma |
|
Hypokalemia, Hyperbilirubinemia, Polycythemia, Thrombocytosis, Weight loss, Hypoalbuminemia, Hype... |
ORPHA:88673 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Decreased serum complement C3, Elevated circulating creatinine con... |
OMIM:612922 |
Igg4-Related Aortitis |
|
Increased circulating antibody level, Elevated circulating C-reactive protein concentration, Comp... |
ORPHA:449400 |
Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Thrombocyt... |
OMIM:618116 |
Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia |
ORPHA:295 |
Familial Isolated Hyperparathyroidism |
|
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Neutropenia i... |
OMIM:301082 |
Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Anemia, Thrombocytopenia, Splenomegaly |
OMIM:615085 |
Immunodeficiency 72 With Autoinflammation |
|
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... |
OMIM:618982 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... |
OMIM:614699 |
Preeclampsia |
|
Increased body mass index, Small for gestational age, Elevated circulating creatinine concentrati... |
ORPHA:275555 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Small for gestational age, Ani... |
OMIM:224120 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... |
OMIM:616000 |
Transaldolase Deficiency |
|
Hepatosplenomegaly, Abnormal circulating glutamine concentration, Anemia, Thrombocytopenia, Incre... |
ORPHA:101028 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Failure to thrive, Hypomagnesemia, Leukopenia, Hyponatremia, Hyperuricemia, Anemia, Thrombocytopenia |
OMIM:613845 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Immunodeficiency 52 |
|
Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo... |
OMIM:617514 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Failure to thrive, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia, Thromb... |
OMIM:608104 |
Primary Membranoproliferative Glomerulonephritis |
|
Decreased serum complement C3, Hypoalbuminemia |
ORPHA:54370 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly |
OMIM:619658 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hepatosplenomegaly, Microcytic anemia, Hypoalbuminemia |
OMIM:619013 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Decreased circulating IgA level, Decreased lymphocyte proliferation in res... |
ORPHA:331206 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... |
OMIM:613493 |
Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia, Reticulocytosis, Elliptocytosis, Hemolytic anemia |
OMIM:130600 |
Spherocytosis, Type 2 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:616649 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Decreased serum complement factor H, Hyperlipidemia, Increased blood urea nitrogen, Decreased ser... |
OMIM:235400 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga... |
OMIM:613500 |
Late-Onset Isolated Acth Deficiency |
|
Failure to thrive, Eosinophilia, Normocytic anemia, Macrocytic anemia, Hyponatremia, Hypercalcemi... |
ORPHA:199299 |
Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612653 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Absent circulating B cells, Failure to thrive, Thrombocytopenia |
OMIM:619693 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94090 |
Bleeding Disorder, Platelet-Type, 15 |
|
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis |
OMIM:615193 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... |
OMIM:616636 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Decreased serum complement C3, Elevated circulating creatinine con... |
OMIM:612925 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... |
OMIM:159550 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Splenomegaly, Hyperammonemia, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:79312 |
Oculoskeletodental Syndrome |
|
Small for gestational age, Hypocalcemia, Hypercalcemia, Splenomegaly |
OMIM:618440 |
Alpha-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism |
ORPHA:846 |
Non-Functioning Paraganglioma |
|
Weight loss, Hypercalcemia |
ORPHA:94080 |
Livedoid Vasculopathy |
|
Leukocytosis, Abnormal circulating lipid concentration, Polycythemia, Hyperhomocystinemia, Abnorm... |
ORPHA:542643 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... |
OMIM:155100 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c... |
ORPHA:247598 |
Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Increased ci... |
OMIM:308230 |
Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy... |
ORPHA:90044 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Renal hypophosphatemia, Abnormality of serum cytokine level, Hyper... |
ORPHA:94059 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:612692 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:612526 |
Acute Adrenal Insufficiency |
|
Failure to thrive, Normocytic anemia, Increased circulating renin level, Hyponatremia, Hyperurice... |
ORPHA:95409 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Elevated hemoglobin A1c, Reduced C-peptide level, Small for gestational age |
OMIM:606176 |
Amed Syndrome, Digenic |
|
Failure to thrive, Leukopenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Acute myelo... |
OMIM:619151 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Failure to thrive, Leukocytosis, Hypoproteinemia, Splenomegaly, Elevated circulating creatine kin... |
OMIM:615895 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Failure to thrive, Decreased circulating IgA level, Decreased serum creatinine, Decreased circula... |
OMIM:617744 |
Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Leptospirosis |
|
Hyperproteinemia, Thrombocytopenia |
ORPHA:509 |
Harderoporphyria |
|
Increased circulating ferritin concentration, Splenomegaly, Hemolytic anemia, Neonatal hyperbilir... |
OMIM:618892 |
Pseudohypoparathyroidism, Type Ib |
|
Obesity, Hypocalcemia, Hyperphosphatemia |
OMIM:603233 |
Juvenile Polyposis Syndrome |
|
Failure to thrive, Anemia, Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Splenomegaly, Decreased hemoglobin concentration, Chronic hemolytic anemia, Unconjugated hyperbil... |
OMIM:266200 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... |
OMIM:300908 |
Stormorken Syndrome |
|
Elevated circulating creatine kinase concentration, Anemia, Thrombocytopenia, Asplenia, Howell-Jo... |
OMIM:185070 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
Johanson-Blizzard Syndrome |
|
Failure to thrive, Anemia, Hypoproteinemia |
ORPHA:2315 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis... |
OMIM:109270 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
Glycogen Storage Disease Vii |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Increased total bilir... |
OMIM:232800 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Increased circulating ferritin concentration, Bone marrow hypocellularity, Hepatosplenomegaly, Th... |
ORPHA:210136 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, Hypereosinophil... |
ORPHA:2902 |
Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypophosphatemia, Iron deficiency anemia, Hypocalcemia |
ORPHA:89937 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, D... |
ORPHA:247585 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Failure to thrive, Hypokalemia, Hepatosplenomegaly, Hemolytic ... |
OMIM:611590 |
Oculocerebrodental Syndrome |
|
Hypocalcemia, Hypercalcemia |
ORPHA:557003 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Failure to thrive, Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, N... |
OMIM:304790 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612926 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Small for gestational age, Elevated circulating cr... |
ORPHA:26793 |
Hepatoportal Sclerosis |
|
Hyperbilirubinemia, Splenomegaly, Leukopenia, Hypoalbuminemia, Anemia, Thrombocytopenia, Hyperspl... |
ORPHA:64743 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Decreased circulating ferritin concentration, Splenomegaly, Polycythemia, Abnormal transferrin sa... |
ORPHA:309854 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... |
OMIM:603909 |
Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level, Abnormal lymphocyte morphology |
OMIM:609529 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Cachexia, Anemia |
OMIM:175500 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Mastocytosis |
|
Splenomegaly, Mastocytosis, Chronic leukemia, Hypercalcemia, Acute leukemia |
ORPHA:98292 |
Aicardi-Goutieres Syndrome 3 |
|
Hepatosplenomegaly, Thrombocytopenia |
OMIM:610329 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis |
OMIM:247800 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Spherocytosis, Type 1 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:182900 |
2P21 Microdeletion Syndrome |
|
Failure to thrive, Hypocalcemia |
ORPHA:163693 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Failure to thrive, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thr... |
ORPHA:35858 |
Congenital Enterovirus Infection |
|
Leukocytosis, Hyperammonemia, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Neutro... |
ORPHA:292 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hyperammonemia, Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia |
ORPHA:27 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Nonspherocytic hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Normocytic anemia, Reticulocyt... |
OMIM:235700 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto... |
OMIM:615631 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb... |
OMIM:614470 |
3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, Thrombocytopenia |
ORPHA:67048 |
Acute Interstitial Pneumonia |
|
Reduced hematocrit, Elevated circulating creatinine concentration, Elevated circulating C-reactiv... |
ORPHA:79126 |
Overhydrated Hereditary Stomatocytosis |
|
Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185000 |
Transcobalamin Ii Deficiency |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased ci... |
OMIM:275350 |
Osteopetrosis, Autosomal Recessive 1 |
|
Failure to thrive, Hypocalcemia, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:259700 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Thrombocytopenia, Anemia, Neutropenia, Hyperammonemia |
ORPHA:289916 |
Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:617765 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Failure to thrive, Hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Thrombocytopenia |
OMIM:251880 |
Chronic Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hemolytic anemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529799 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia |
OMIM:616176 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly |
OMIM:314050 |
Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Abnormal leukocyte morphology, Neutropenia, Vacuola... |
ORPHA:167 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Decreased serum complement C3, Leukopenia, Decreased serum complement C4, Autoimmune... |
OMIM:301080 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Kimura Disease |
|
Eosinophilia, Increased circulating IgE level |
ORPHA:482 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Elevated hemoglobin A1c, Small for gestational age |
OMIM:619278 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia |
OMIM:601815 |
Poems Syndrome |
|
Polycythemia, Thrombocytosis, Weight loss, Increased circulating antibody level |
ORPHA:2905 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Wolcott-Rallison Syndrome |
|
Decreased body weight, Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, Iron deficiency anemia,... |
ORPHA:1667 |
Methylmalonic Aciduria, Cblb Type |
|
Failure to thrive, Neutropenia, Hyperammonemia, Hyperglycinemia, Methylmalonic acidemia, Pancytop... |
OMIM:251110 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Alg6-Cdg |
|
Failure to thrive, Decreased LDL cholesterol concentration, Hypoalbuminemia |
ORPHA:79320 |
Addison Disease |
|
Failure to thrive, Normocytic anemia, Increased circulating renin level, Hyponatremia, Hyperurice... |
ORPHA:85138 |
Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Decreased serum complement C3, Decreased serum complement C4, Elevated circulating ... |
ORPHA:90060 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ... |
OMIM:231200 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Galloway-Mowat Syndrome 6 |
|
Decreased body weight, Hypoalbuminemia |
OMIM:618347 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Decreased circulating antibody level |
OMIM:616576 |
Wt Limb-Blood Syndrome |
|
Hypoplastic anemia, Thrombocytopenia, Leukemia, Pancytopenia |
OMIM:194350 |
Thymic Neuroendocrine Tumor |
|
Weight loss, Hypercalcemia |
ORPHA:97289 |
Immunodeficiency 70 |
|
Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Decreased ci... |
OMIM:618969 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Failure to thrive, Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Hype... |
OMIM:614857 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia |
OMIM:612089 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Decreased circulating IgA level, Lymphopenia, Splenomegaly, Aplasia of the thy... |
OMIM:102700 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In... |
ORPHA:91547 |
Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia |
OMIM:598500 |
Gaucher Disease, Type Iii |
|
Decreased body weight, Thrombocytopenia, Splenomegaly, Pancytopenia |
OMIM:231000 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Anemia, Hypocalcemia |
ORPHA:53 |
Gaucher Disease, Type Ii |
|
Failure to thrive, Anemia, Thrombocytopenia, Splenomegaly |
OMIM:230900 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia |
OMIM:616738 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
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Sideroblastic anemia, Thrombocytopenia |
OMIM:617021 |
Methylmalonic Aciduria, Cbla Type |
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Failure to thrive, Neutropenia, Hyperammonemia, Hyperglycinemia, Methylmalonic acidemia, Pancytop... |
OMIM:251100 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Hypomagnesemia, Hypocalcemia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly,... |
ORPHA:37042 |
Kenny-Caffey Syndrome, Type 1 |
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Anemia, Hypomagnesemia, Hypocalcemia |
OMIM:244460 |
Infantile Myofibromatosis |
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Hypercalcemia |
ORPHA:2591 |
Immunodeficiency 85 And Autoimmunity |
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Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:619510 |
Amoebiasis Due To Entamoeba Histolytica |
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Anemia, Weight loss, Hypoalbuminemia, Leukocytosis |
ORPHA:67 |
Congenital Toxoplasmosis |
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Anemia, Thrombocytopenia, Failure to thrive in infancy |
ORPHA:858 |
Hereditary Folate Malabsorption |
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Megaloblastic anemia, Failure to thrive, Eosinophilia, Decreased circulating antibody level, Panc... |
ORPHA:90045 |
Hypoparathyroidism, Familial Isolated, 1 |
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Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:146200 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
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Increased circulating antibody level, Failure to thrive, Lymphopenia, Splenomegaly, Hypertriglyce... |
OMIM:617591 |
Chronic Myeloid Leukemia |
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Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Hypocalciuric Hypercalcemia, Familial, Type I |
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Hypercalcemia, Hypermagnesemia |
OMIM:145980 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
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Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Decreased circulat... |
OMIM:619752 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
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Failure to thrive, Hypoalbuminemia, Decreased circulating copper concentration, Decreased circula... |
OMIM:242150 |
Mevalonic Aciduria |
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Failure to thrive, Elevated circulating C-reactive protein concentration, Fluctuating splenomegal... |
OMIM:610377 |
Thrombocytopenia 1 |
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Increased circulating IgA level, Congenital thrombocytopenia, Decreased mean platelet volume, Int... |
OMIM:313900 |
Rh Deficiency Syndrome |
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Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem... |
ORPHA:71275 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Decreased specific anti-polysaccharide antibody level, Decreased lymphocyte proliferation in resp... |
OMIM:606367 |
Pseudo-Torch Syndrome 3 |
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Increased circulating ferritin concentration, Anemia, Congenital thrombocytopenia, Leukocytosis |
OMIM:618886 |
Immunodeficiency 91 And Hyperinflammation |
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Failure to thrive, Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophago... |
OMIM:619644 |
Immunodeficiency, Common Variable, 4 |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
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Small for gestational age, Elevated circulating creatine kinase concentration, Normochromic anemi... |
OMIM:618775 |
Isolated Agammaglobulinemia |
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Failure to thrive, Abnormal lymphocyte morphology, Abnormality of neutrophils, Anemia, Thrombocyt... |
ORPHA:229717 |
Immunodeficiency With Hyper-Igm, Type 5 |
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Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... |
OMIM:608106 |
+173470 integrin, beta-3 |
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Post-transfusion thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune ... |
OMIM:173470 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
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Hypercalcemia, Hypermagnesemia |
OMIM:145981 |
Insulin-Resistance Syndrome Type B |
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Decreased body weight, Increased circulating IgA level, Abnormal circulating fatty-acid concentra... |
ORPHA:2298 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
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Hypercalcemia |
OMIM:171420 |
Nephrotic Syndrome, Type 8 |
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Hypoalbuminemia |
OMIM:615244 |
Osteopetrosis, Autosomal Recessive 4 |
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Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia |
OMIM:611490 |
Primary Myelofibrosis |
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Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Cachexia, Hepatosplenomegaly, Thrombocy... |
ORPHA:824 |
Hereditary Elliptocytosis |
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Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemolytic anemia, ... |
ORPHA:288 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Increased circulating ferritin concentration, Splenomegaly, Increased red cell hemolysis by shear... |
OMIM:194380 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
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Failure to thrive, Hyperammonemia, Leukopenia, Hyperglycinemia, Methylmalonic acidemia, Neutropen... |
OMIM:251000 |
Idiopathic Aplastic Anemia |
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Pancytopenia, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Reticulocytopenia |
ORPHA:88 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Failure to th... |
ORPHA:572 |
Celiac Disease, Susceptibility To, 1 |
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Failure to thrive, Decreased circulating IgA level, Hypocalcemia, Iron deficiency anemia, Macrocy... |
OMIM:212750 |
Ghosal Hematodiaphyseal Dysplasia |
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Refractory anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia |
OMIM:231095 |
Holocarboxylase Synthetase Deficiency |
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Weight loss, Thrombocytopenia, Hyperammonemia |
ORPHA:79242 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
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Hypocalcemia, Hypoproteinemia, Splenomegaly |
OMIM:235255 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
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Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis |
OMIM:300367 |
Avian Influenza |
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Elevated circulating C-reactive protein concentration, Lymphopenia, Leukopenia, Elevated circulat... |
ORPHA:454836 |
Combined Oxidative Phosphorylation Deficiency 14 |
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Anemia, Thrombocytopenia |
OMIM:614946 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
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Megaloblastic anemia, Failure to thrive, Neutropenia, Hyperhomocystinemia, Cystathioninemia, Meth... |
OMIM:277380 |
Mucopolysaccharidosis-Plus Syndrome |
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Splenomegaly, Leukopenia, Hypoalbuminemia, Increased circulating IgM level, Neutropenia, Bone mar... |
OMIM:617303 |
Overhydrated Hereditary Stomatocytosis |
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Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine concentration, Mic... |
OMIM:274150 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
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Increased circulating ferritin concentration, Thrombocytopenia, Hypochromic microcytic anemia |
ORPHA:3240 |
Non-Involuting Congenital Hemangioma |
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Thrombocytopenia |
ORPHA:141179 |
Sengers Syndrome |
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Thrombocytopenia |
OMIM:212350 |
Griscelli Syndrome |
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Splenomegaly, Abnormal circulating lipid concentration, Leukopenia, Abnormality of neutrophils, D... |
ORPHA:381 |
Congenital Disorder Of Glycosylation, Type Ij |
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Hypoproteinemia |
OMIM:608093 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
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Hemolytic anemia, Thrombocytopenia, Lymphopenia |
OMIM:616744 |
Nephrotic Syndrome, Type 14 |
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Hypertriglyceridemia, Lymphopenia, Hypoalbuminemia |
OMIM:617575 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
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Megaloblastic anemia, Thrombocytopenia, Pancytopenia |
OMIM:613839 |
Specific Granule Deficiency 2 |
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Failure to thrive, Neutropenia, Anemia, Thrombocytopenia, Absent neutrophil specific granules |
OMIM:617475 |
Glutamate-Cysteine Ligase Deficiency |
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Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis |
ORPHA:33574 |
Congenital Disorder Of Glycosylation, Type Iil |
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Decreased specific anti-polysaccharide antibody level, Failure to thrive, Splenomegaly, Impaired ... |
OMIM:614576 |
Pancreatic insufficiency, combined exocrine |
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Hypoproteinemia |
OMIM:260450 |
Propionic Acidemia |
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Failure to thrive, Neutropenia, Hyperammonemia, Hyperglycinemia, Pancytopenia, Anemia, Thrombocyt... |
OMIM:606054 |
Alpha-Thalassemia |
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Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
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Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Immunodeficiency 47 |
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Failure to thrive, Splenomegaly, Decreased circulating total IgA, Leukopenia, Accessory spleen, N... |
OMIM:300972 |
Immunodeficiency 96 |
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Increased mean corpuscular volume, Decreased circulating IgA level, Decreased circulating IgG lev... |
OMIM:619774 |
Bone Marrow Failure Syndrome 6 |
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Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... |
OMIM:618849 |
Mpi-Cdg |
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Failure to thrive, Hypoalbuminemia |
ORPHA:79319 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
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Leukocytosis, Thrombocytopenia, Hyponatremia |
ORPHA:83601 |
Al Amyloidosis |
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Increased circulating antibody level, Increased circulating NT-proBNP concentration, Weight loss,... |
ORPHA:85443 |
Kenny-Caffey Syndrome, Type 2 |
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Hypocalcemia, Small for gestational age, Hyperphosphatemia, Transient hypophosphatemia, Anemia |
OMIM:127000 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
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Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev... |
OMIM:600903 |
Immunodeficiency 60 And Autoimmunity |
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Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... |
OMIM:618394 |
Diarrhea 10, Protein-Losing Enteropathy Type |
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Hypomagnesemia, Hypocalcemia, Hypertriglyceridemia, Decreased circulating antibody level, Hypoalb... |
OMIM:618183 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
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Abnormal dense granule content, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal... |
OMIM:601399 |
Fechtner syndrome |
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Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets |
OMIM:153640 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
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Weight loss, Hypercalcemia |
ORPHA:276621 |
Thyrocerebrorenal Syndrome |
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Thrombocytopenia |
ORPHA:3327 |
Vipoma |
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Weight loss, Hypokalemia, Normochromic anemia, Hypercalcemia |
ORPHA:97282 |
Slc35A1-Cdg |
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Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia |
ORPHA:238459 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
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Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia |
OMIM:208920 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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Hypophosphatemia, Hypercalcemia, Hypermagnesemia |
OMIM:600740 |
Immunodeficiency 92 |
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Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... |
OMIM:619652 |
Hermansky-Pudlak Syndrome 9 |
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Abnormal platelet aggregation, Leukopenia, Thrombocytopenia |
OMIM:614171 |
Metaphyseal Chondrodysplasia, Jansen Type |
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Hypophosphatemia, Hypercalcemia |
OMIM:156400 |
Stt3B-Cdg |
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Failure to thrive, Thrombocytopenia |
ORPHA:370924 |
Rapidly Involuting Congenital Hemangioma |
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Thrombocytopenia |
ORPHA:141184 |
Vexas Syndrome |
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Thrombocytopenia, Elevated circulating C-reactive protein concentration, Macrocytic anemia |
OMIM:301054 |
Anemia, Congenital Dyserythropoietic, Type Ii |
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Anemia of inadequate production, Reticulocytosis, Splenomegaly |
OMIM:224100 |
Isovaleric Acidemia |
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Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Pancytopenia |
OMIM:243500 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
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Hemolytic anemia, Decreased hemoglobin concentration, Reticulocytosis, Hyperbilirubinemia |
ORPHA:713 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Splenomegaly, Decr... |
OMIM:616100 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
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Failure to thrive, Large for gestational age, Neutropenia, Bone marrow hypocellularity, Anemia, T... |
OMIM:614520 |
Lysosomal Acid Lipase Deficiency |
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Failure to thrive, Increased LDL cholesterol concentration, Splenomegaly, Hepatosplenomegaly, Dec... |
OMIM:278000 |
Cog4-Cdg |
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Hepatosplenomegaly, Thrombocytopenia, Failure to thrive in infancy, Hypercholesterolemia |
ORPHA:263501 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
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Failure to thrive, Hypercalcemia |
ORPHA:476126 |
Bartter Syndrome, Type 1, Antenatal |
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Failure to thrive, Hypomagnesemia, Hypokalemia, Small for gestational age, Increased circulating ... |
OMIM:601678 |
Congenital Disorder Of Glycosylation, Type Ix |
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Failure to thrive, Thrombocytopenia |
OMIM:615597 |
Deafness, Neural, With Atypical Atopic Dermatitis |
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Increased circulating IgE level |
OMIM:221700 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
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Hepatosplenomegaly, Hypocalcemia, Hypoproteinemia, Splenomegaly |
ORPHA:1655 |
S-Adenosylhomocysteine Hydrolase Deficiency |
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Failure to thrive, Elevated circulating creatine kinase concentration, Abnormal circulating methi... |
ORPHA:88618 |
Platelet Disorder, Undefined |
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Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Decreased circulating IgA level, Decreased circulating total IgM, Hypertriglyceridemia, Hypercalc... |
ORPHA:369837 |
Deafness-Lymphedema-Leukemia Syndrome |
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Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Bone marrow h... |
ORPHA:3226 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
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Failure to thrive, Decreased body weight, Abnormal circulating selenium concentration, Decreased ... |
ORPHA:89842 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... |
OMIM:605258 |
Acquired Purpura Fulminans |
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Thrombocytopenia, Elevated circulating C-reactive protein concentration |
ORPHA:49566 |
Aggressive Systemic Mastocytosis |
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Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... |
ORPHA:98850 |
Ring Chromosome 10 Syndrome |
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Cachexia, Hypocalcemia |
ORPHA:1438 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Failure to thrive, Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
Glucagonoma |
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Normochromic anemia, Weight loss, Acanthocytosis, Hypercalcemia |
ORPHA:97280 |
Palmoplantar Keratoderma, Epidermolytic |
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Increased circulating IgE level |
OMIM:144200 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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Decreased circulating IgG level, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytope... |
OMIM:301078 |
Familial Hypocalciuric Hypercalcemia |
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Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hypocalcemic sei... |
ORPHA:405 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
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Eosinophilia, Decreased circulating total IgM, Increased circulating IgG level, Decreased proport... |
OMIM:243700 |
Acyl-Coa Dehydrogenase 9 Deficiency |
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Elevated circulating acylcarnitine concentration, Failure to thrive, Hyperammonemia, Elevated cre... |
ORPHA:99901 |
Somatostatinoma |
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Weight loss, Hypochromic microcytic anemia, Hypercalcemia |
ORPHA:97283 |
Gracile Bone Dysplasia |
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Failure to thrive, Hypocalcemia, Hypoplastic spleen, Asplenia |
OMIM:602361 |
Alg12-Cdg |
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Failure to thrive, Partial absence of specific antibody response to Haemophilus influenzae type b... |
ORPHA:79324 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly... |
OMIM:614700 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
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Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:611926 |
Babesiosis |
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Hemolytic anemia, Leukopenia, Thrombocytopenia, Splenomegaly |
ORPHA:108 |
Trichohepatoenteric Syndrome 1 |
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Failure to thrive, Splenomegaly, Small for gestational age, Hypermethioninemia, Abnormality of ir... |
OMIM:222470 |
Immunodeficiency 35 |
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Increased circulating IgE level |
OMIM:611521 |
Aicardi-Goutieres Syndrome 4 |
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Hepatosplenomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia |
OMIM:610333 |
Ige Responsiveness, Atopic |
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Increased circulating IgE level |
OMIM:147050 |
Bleeding Disorder, Platelet-Type, 17 |
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Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187900 |
Renal Tubular Acidosis, Distal, 1 |