Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia |
OMIM:614164 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections, Hyposegmentation of neutrophil nuclei... |
OMIM:310350 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Hyperbilirubinemia |
OMIM:618660 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Neutropenia, Recurrent strep... |
ORPHA:70592 |
Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of inadequate pr... |
OMIM:237800 |
Tuftsin Deficiency |
|
Abnormality of the spleen, Recurrent infections |
OMIM:191150 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Hyperbilirubinemia, Splenomegaly |
OMIM:179700 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, T lymphocytopenia, Recurrent candida infections |
OMIM:242870 |
Mannose-Binding Lectin Deficiency |
|
Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurrent herpes, Recurr... |
OMIM:614372 |
Immunodeficiency 30 |
|
Recurrent infections, Recurrent mycobacterial infections |
OMIM:614891 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent otitis media, Neutrop... |
OMIM:616022 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Erythroid hyperplasia, Anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of inade... |
OMIM:613673 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections |
OMIM:308220 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... |
ORPHA:766 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Neutropenia |
OMIM:300299 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent bacterial infections, Meningitis, Recurrent respiratory infections, Recurrent pneumonia |
OMIM:613500 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent bacterial infections, Neutropenia, Recurrent fungal infections, Recurrent viral infecti... |
OMIM:614868 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy, Recurrent mycobacterial infections |
OMIM:616126 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Splenomegaly, Microcytic anemia, Erythrocyte inclusion bodies, Decre... |
OMIM:603902 |
Complement Component 8 Deficiency, Type Ii |
|
Meningitis, Recurrent Neisserial infections |
OMIM:613789 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent bacterial infections, Neutropenia, Recurrent bronchitis, Recurrent otitis media, Recurr... |
OMIM:613501 |
Malaria |
|
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubinemia |
ORPHA:673 |
Immunodeficiency 84 |
|
Recurrent bacterial infections, B lymphocytopenia, Persistent EBV viremia, Splenomegaly |
OMIM:619437 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbilirubinemia, Splen... |
OMIM:616689 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Megaloblastic Anemia, Folate-Responsive |
|
Hyperhomocystinemia, Schistocytosis, Episodic hemolytic anemia, Hyperbilirubinemia, Increased cir... |
OMIM:601775 |
Complement Component 6 Deficiency |
|
Recurrent meningococcal disease |
OMIM:612446 |
Elliptocytosis 2 |
|
Reticulocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Elliptocytosis |
OMIM:130600 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia |
OMIM:612653 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Spherocytosis, Type 2 |
|
Acanthocytosis, Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia |
OMIM:616649 |
Crigler-Najjar Syndrome Type 2 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79235 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Specific Granule Deficiency 1 |
|
Recurrent bacterial infections, Absent neutrophil lactoferrin, Absent neutrophil specific granule... |
OMIM:245480 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:613495 |
Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent respiratory infections, Abs... |
OMIM:608957 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytos... |
OMIM:109270 |
Immunodeficiency 12 |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:615468 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent bacterial infections, Neutropenia, Recurrent otitis media, Recurrent pneumonia, Recurre... |
OMIM:613502 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Autoimmune thr... |
OMIM:608184 |
Immunodeficiency 35 |
|
Recurrent fungal infections, Recurrent viral infections, Recurrent respiratory infections, Recurr... |
OMIM:611521 |
Spherocytosis, Type 1 |
|
Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia |
OMIM:182900 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Rh-Null, Regulator Type |
|
Stomatocytosis, Hemolytic anemia, Unconjugated hyperbilirubinemia |
OMIM:268150 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Hemolytic anemia |
OMIM:185000 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections, Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocyto... |
OMIM:202700 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:205950 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Recurrent bacterial infections, Lymphadenopath... |
OMIM:605258 |
Ficolin 3 Deficiency |
|
Recurrent abscess formation, Recurrent Staphylococcus aureus infections, Recurrent lower respirat... |
OMIM:613860 |
Immunodeficiency 31B |
|
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections |
OMIM:613796 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Normochromic anemia, Hyperbilirubinemia, Splenomegaly, Nonspherocytic hemolyti... |
OMIM:235700 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Cernunnos-Xlf Deficiency |
|
Recurrent bacterial infections, B lymphocytopenia, Recurrent viral infections, Anemia, Lymphopeni... |
ORPHA:169079 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Splenomegaly, In... |
OMIM:616860 |
Immunodeficiency 61 |
|
Recurrent bacterial infections, Recurrent otitis media, Recurrent respiratory infections, Frequen... |
OMIM:300310 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... |
ORPHA:232 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
Immunodeficiency 51 |
|
Chronic furunculosis, Recurrent bronchitis, Chronic oral candidiasis, Recurrent otitis media, Chr... |
OMIM:613953 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Anisocytosis... |
ORPHA:98870 |
Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Monocytopenia, Neutropenia |
ORPHA:86788 |
Glycogen Storage Disease Vii |
|
Increased total bilirubin, Hyperuricemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglyce... |
OMIM:232800 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Hereditary Elliptocytosis |
|
Congenital hemolytic anemia, Neonatal hyperbilirubinemia, Stomatocytosis, Hyperbilirubinemia, Spl... |
ORPHA:288 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... |
OMIM:206000 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level ... |
OMIM:300908 |
Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hematocrit, Increased hemoglobin |
OMIM:611783 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Recurrent pneumonia... |
OMIM:612692 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Coccidioidomycosis, Severe toxoplasmosis, BCGosis, Lymphadenitis, Histoplasmosis, Disseminated no... |
ORPHA:319552 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Iron deficiency anemia, Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration... |
OMIM:616278 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:3111 |
Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Hepatosplenomegaly, Hemophagocytosis |
OMIM:607624 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
Immunodeficiency 21 |
|
Abnormal natural killer cell morphology, Neutropenia, Recurrent fungal infections, Recurrent vira... |
OMIM:614172 |
Harderoporphyria |
|
Neonatal hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concentration, Reticulo... |
OMIM:618892 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent sinopulmonary infections, ... |
OMIM:243700 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia |
ORPHA:846 |
Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia |
OMIM:129850 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent bacterial infections, Decreased proportion of class-switched memory B cells, Recurrent ... |
OMIM:613493 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Recurrent bacterial infections |
OMIM:616873 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Anemia, Hyperbilirubinemia, Splenomegaly, Acute myeloi... |
ORPHA:158057 |
Crigler-Najjar Syndrome Type 1 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79234 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Reticulocytosis, Hemolytic anemia, Decreased hemoglobin concentration, Hyperbilirubinemia |
ORPHA:713 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Recurrent bacterial infections, Leukocytosis, Sepsis, Anemia, Abnormality of the lymph nodes, Spl... |
OMIM:612840 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Recurrent oppo... |
ORPHA:911 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reduced haptoglobin level, Hypochromia, Stomatocytosis, Hype... |
ORPHA:71275 |
Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
Omenn Syndrome |
|
Recurrent bacterial infections, B lymphocytopenia, Lymphadenopathy, Recurrent fungal infections, ... |
OMIM:603554 |
Immunodeficiency, Common Variable, 4 |
|
Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis |
OMIM:613494 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... |
OMIM:605814 |
Immunodeficiency, Common Variable, 1 |
|
Recurrent bacterial infections, B lymphocytopenia, Decreased proportion of class-switched memory ... |
OMIM:607594 |
Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent bacterial infections, B lymphocytopenia, Neutropenia, Recurrent otitis media, Recurrent... |
OMIM:601495 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Recurrent bacterial infections, Neutropenia, Absence of lymph node germinal center |
OMIM:606843 |
Immunodeficiency 10 |
|
Recurrent bacterial infections, Lymphadenopathy, Recurrent infections, Thrombocytopenia, Autoimmu... |
OMIM:612783 |
Immunodeficiency, Common Variable, 2 |
|
Recurrent bacterial infections, Recurrent bronchitis, Lymphadenopathy, Recurrent otitis media, Sp... |
OMIM:240500 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Chronic hemolytic anemia, Unconjugated hyperbilirubinemia, Splenomegaly |
OMIM:266200 |
Adult Idiopathic Neutropenia |
|
Recurrent bacterial infections, Neutropenia, Helicobacter pylori infection, Monocytosis, Recurren... |
ORPHA:2688 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy, Recurrent bacterial infections, Recurrent upper and lower respiratory tract infe... |
OMIM:608106 |
Thymic Aplasia |
|
Recurrent bacterial infections, Sepsis, Recurrent infection of the gastrointestinal tract, Decrea... |
ORPHA:83471 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Recurrent bacterial infections, Sepsis, Lymphadenopathy, Recurrent fungal infections, Recurrent v... |
ORPHA:169090 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease |
OMIM:615561 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy, Recurrent mycobacterial infections |
OMIM:615978 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Recurrent bacterial infections, Recurrent infection of the gastrointestin... |
ORPHA:572 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial infections, Sepsis, Decreased proportion of naive T cells, Recurrent opportun... |
ORPHA:276 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly |
ORPHA:90037 |
Immunodeficiency 67 |
|
Recurrent staphylococcal infections, Transient neutropenia, Recurrent streptococcal infections |
OMIM:607676 |
Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent bacterial infections, Infectious encephalitis, Neutropenia, Recurrent protozoan infecti... |
OMIM:209920 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Hereditary Spherocytosis |
|
Anemia, Hyperbilirubinemia, Splenomegaly, Extramedullary hematopoiesis, Increased mean corpuscula... |
ORPHA:822 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... |
OMIM:618849 |
Whim Syndrome 1 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Neutropenia |
OMIM:193670 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent bacterial infections, Recurrent opportunistic infections, Recurrent viral infections, C... |
ORPHA:275 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia, Splenomegaly |
OMIM:214900 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Hypermethioninemia, Dec... |
ORPHA:247598 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Recurrent bacterial infections |
OMIM:613779 |
Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia, Elevated hepcidin level |
OMIM:206200 |
Complement Factor H Deficiency |
|
Recurrent bacterial infections |
OMIM:609814 |
Hypermanganesemia With Dystonia 1 |
|
Polycythemia, Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding ca... |
OMIM:613280 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production |
OMIM:603529 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent E. coli infections, Lymphadenopathy, Lymphadenitis, Recurrent Serratia marcescens infec... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent E. coli infections, Lymphadenopathy, Lymphadenitis, Recurrent Serratia marcescens infec... |
OMIM:233710 |
Specific Granule Deficiency 2 |
|
Recurrent bacterial infections, Sepsis, Neutropenia, Absent neutrophil specific granules, Recurre... |
OMIM:617475 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent bacterial infections, Recurrent opportunistic infections, Lymph node hypoplasia, Neutro... |
OMIM:613179 |
Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Decreased osteoclast count, Hyperbilirubinemia, Splenomegaly, Extramedullary hematopoiesi... |
OMIM:259720 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Leukopenia, Increased LDL... |
OMIM:267700 |
Immunodeficiency 36 |
|
Recurrent bacterial infections, Chronic lymphatic leukemia, Splenomegaly, Lymphopenia, Recurrent ... |
OMIM:616005 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
Relapsing Fever |
|
Leukocytosis, Leukopenia, Elevated circulating creatinine concentration, Anemia, Increased total ... |
ORPHA:91547 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent E. coli infections, Lymphadenopathy, Lymphadenitis, Recurrent Serratia marcescens infec... |
OMIM:233690 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent E. coli infections, Lymphadenopathy, Lymphadenitis, Recurrent Serratia marcescens infec... |
OMIM:306400 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent bacterial infections, Abnormal B cell count, Lymphadenitis, Recurrent fungal infections... |
ORPHA:331206 |
Beta-Thalassemia |
|
Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Th... |
ORPHA:848 |
Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Hyperbilirubinemia, Splenomegaly, Hypersplenism, Hypoalbuminemia, Thrombocyto... |
ORPHA:64743 |
Liver Failure, Infantile, Transient |
|
Hyperbilirubinemia |
OMIM:613070 |
Isolated Polycystic Liver Disease |
|
Increased total bilirubin |
ORPHA:2924 |
Erythrocytosis, Familial, 2 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:263400 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia |
OMIM:609734 |
Immunodeficiency 33 |
|
Recurrent bacterial infections, Disseminated nontuberculous mycobacterial infection |
OMIM:300636 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Autoimmune hemolytic anemia |
ORPHA:90036 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Hyperbilirubinemia |
OMIM:614300 |
Biliary Atresia, Extrahepatic |
|
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin |
ORPHA:890 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent bacterial infections, B lymphocytopenia, Severe varicella zoster infection, Lymphadenop... |
OMIM:606367 |
Infantile Sialic Acid Storage Disease |
|
Vacuolated lymphocytes, Conjugated hyperbilirubinemia, Splenomegaly |
OMIM:269920 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Recurrent infection of the gastrointestinal tract, Acute lymphobl... |
ORPHA:486 |
Selective Igm Deficiency |
|
Sepsis, Severe varicella zoster infection, Recurrent herpes, Neutropenia in presence of anti-neut... |
ORPHA:331235 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Normochromic anemia, Elevated red cell adenosine deaminase level, Reticulocyto... |
OMIM:615550 |
Immune Deficiency Disease |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:242850 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent bacterial infections, Autoimmune thrombocytopenia, Recurrent respiratory infections |
OMIM:613496 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Recurrent Haemophilus influenzae infections, Recurrent bronchitis |
OMIM:300455 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Leukopenia, Anemia, Increased total bilirubin, Splenomegaly, Incre... |
OMIM:603553 |
Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:243300 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration, Extramedullary hematopoies... |
ORPHA:79303 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin |
OMIM:616299 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin |
OMIM:618528 |
Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent bacterial infections, Sepsis, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the t... |
OMIM:612541 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Recurrent sinopulmonary infections, Recurrent fungal infections, Chronic mucocutaneous candidiasi... |
OMIM:147060 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Anisopoikilocytosis, Elevated red cell adenosine deaminase level, Stomatocytosis, Hyperuricemia, ... |
OMIM:102730 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Thrombocytopenia, Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly |
OMIM:251880 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hyperbilirubinemia, Splenomegaly |
OMIM:235555 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyperammonemia, Lymphocyto... |
ORPHA:1667 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas |
ORPHA:1203 |
Erythrocytosis, Familial, 8 |
|
Normocytic anemia, Polycythemia, Normochromic anemia, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:222800 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia |
OMIM:619232 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Recurrent bacterial infections, Sepsis, Neutropenia, Recurrent lower respiratory tract infections... |
OMIM:308230 |
Fumarase Deficiency |
|
Polycythemia, Hyperbilirubinemia |
OMIM:606812 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Recurrent bacterial infections, B lymphocytopenia, Recurrent fungal infections, Recurrent viral i... |
OMIM:102700 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent bacterial infections, Leukocytosis, Recurrent staphylococcal infections, Recurrent gram... |
OMIM:116920 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent bacterial infections, Infectious encephalitis, Enteroviral dermatomyositis syndrome, Py... |
OMIM:307200 |
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
|
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis |
OMIM:141700 |
Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:185020 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatosplenomegaly, Hyperbilirubinemia |
ORPHA:79302 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia |
ORPHA:95715 |
Sickle Cell Anemia |
|
Recurrent bacterial infections, Leukocytosis, Splenomegaly, Increased red cell sickling tendency,... |
OMIM:603903 |
Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia |
ORPHA:95717 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hypocholesterolemia, Hyperbilirubinemia, Splenomegaly |
OMIM:607765 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Leukocytosis, Hyponatremia, Unconjugated hyperbilirubinemia, Schistocytosis, Microangiopathic hem... |
ORPHA:90038 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Reduced beta/alpha synthesis ratio |
OMIM:609057 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Recurrent bacterial infections, Thrombocytopenia, Macrothrombocytopenia, Neutropenia |
OMIM:603585 |
Tempi Syndrome |
|
Polycythemia, Increased hematocrit |
ORPHA:284227 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
Chediak-Higashi Syndrome |
|
Neutropenia, Leukopenia, Lymphadenopathy, Abnormal dense granules, Giant neutrophil granules, Ane... |
OMIM:214500 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Sepsis, Recurrent bacterial infections, Neutropenia, Abnormal proportion ... |
ORPHA:443811 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Splenomegaly |
OMIM:601847 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hyperbilirubinemia |
OMIM:214950 |
Hermansky-Pudlak Syndrome 2 |
|
Recurrent bacterial infections, Neutropenia, Enlarged platelet dense granules, Chronic oral candi... |
OMIM:608233 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Recurrent bacterial infections, Sepsis, Pulmonary tuberculosis, Recurrent herpes, Recurrent otiti... |
ORPHA:183675 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Splenomegaly |
OMIM:211600 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Acanthocytosis, Decreased LDL cholesterol concentration,... |
ORPHA:14 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
Tropical Calcific Pancreatitis |
|
Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas |
OMIM:608189 |
Complement Factor I Deficiency |
|
Recurrent otitis media, Recurrent urinary tract infections, Recurrent Haemophilus influenzae infe... |
OMIM:610984 |
Pericardial Effusion, Chronic |
|
Polycythemia |
OMIM:260900 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration |
OMIM:614886 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
ORPHA:234 |
Hepatocellular Carcinoma |
|
Thrombocytosis, Hyponatremia, Hypercalcemia, Hypokalemia, Polycythemia, Anemia, Hyperbilirubinemi... |
ORPHA:88673 |
Lathosterolosis |
|
Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Abnormal circulating cholest... |
OMIM:607330 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Stomatocytosis, Hepatosplenomegaly, Conjugated hyperbilirubinemia, Spontaneous hemolytic crises |
ORPHA:168577 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Leukopenia, Erythroid hyperplasia, An... |
ORPHA:447 |
Pancreatitis, Hereditary |
|
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis |
OMIM:167800 |
Chédiak-Higashi Syndrome |
|
Recurrent bacterial infections, Abnormal natural killer cell morphology, Neutropenia, Thrombocyto... |
ORPHA:167 |
Immunodeficiency 23 |
|
Severe varicella zoster infection, Neutropenia, Chronic mucocutaneous candidiasis, Recurrent stap... |
OMIM:615816 |
Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:95716 |
Mirage Syndrome |
|
Recurrent bacterial infections, Sepsis, Leukopenia, Anemia, Recurrent urinary tract infections, L... |
OMIM:617053 |
Bachmann-Bupp Syndrome |
|
Hyperbilirubinemia |
OMIM:619075 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
Caroli Syndrome |
|
Leukocytosis, Leukopenia, Hyperbilirubinemia, Hypersplenism, Conjugated hyperbilirubinemia, Throm... |
ORPHA:480520 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Abnormality of iron homeostasis, Erythroid hyperplasia, Elevated hepatic iron conce... |
ORPHA:231222 |
Kenny-Caffey Syndrome, Type 1 |
|
Recurrent bacterial infections, Anemia |
OMIM:244460 |
Congenital Erythropoietic Porphyria |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Erythroid hyperplasia, Leukopenia, Sp... |
ORPHA:79277 |
African Iron Overload |
|
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... |
ORPHA:139507 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Hyperammonemia |
OMIM:617049 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum ... |
OMIM:619662 |
Cystic Echinococcosis |
|
Eosinophilia, Hyperbilirubinemia, Splenic cyst |
ORPHA:400 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:612561 |
Shwachman-Diamond Syndrome |
|
Chronic neutropenia, Macrocytic anemia, Sepsis, Recurrent bacterial infections, Neutropenia, Norm... |
ORPHA:811 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c |
OMIM:610582 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Conjugated hyperbilirubinemia |
OMIM:613404 |
Intrahepatic Cholestasis Of Pregnancy |
|
Increased serum bile acid concentration, Hyperbilirubinemia |
ORPHA:69665 |
Graft Versus Host Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Hyperbilirubinemia |
ORPHA:39812 |
Pyruvate Carboxylase Deficiency |
|
Hypernatremia, Neonatal hyperbilirubinemia, Increased level of L-glutamic acid in blood, Hyperamm... |
ORPHA:3008 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Thrombocytopenia, Anemia, Hyperbilirubinemia, Hypocalcemia |
ORPHA:163979 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Neonatal hyperbilirubinemia |
ORPHA:73272 |
Dominant Beta-Thalassemia |
|
Chronic infection, Hypochromic microcytic anemia, Persistence of hemoglobin F, Splenomegaly, Hype... |
ORPHA:231226 |
Beta-Thalassemia Major |
|
Chronic infection, Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegaly, Persistence ... |
ORPHA:231214 |
Complement Component 5 Deficiency |
|
Recurrent meningococcal disease |
OMIM:609536 |
Tropical Pancreatitis |
|
Abnormal pancreatic duct morphology, Pancreatic calcification, Chronic calcifying pancreatitis, P... |
ORPHA:103918 |
Whim Syndrome |
|
Recurrent bacterial infections, Sepsis, Neutropenia, Lymphadenitis, Meningitis, Recurrent upper r... |
ORPHA:51636 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Conjugated hyperbilirubinemia |
OMIM:208085 |
Hypocomplementemic Urticarial Vasculitis |
|
Lymphadenopathy, Meningitis, Recurrent bacterial infections, Splenomegaly |
ORPHA:36412 |
Perlman Syndrome |
|
Abnormal pancreas morphology, Hepatomegaly, Cryptorchidism |
ORPHA:2849 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Decreased plasma free carnitine, Elevated circulating long chain fatty acid concentration, Increa... |
OMIM:608836 |
Distal Xq28 Microduplication Syndrome |
|
Neonatal hyperbilirubinemia |
ORPHA:293939 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia |
OMIM:609727 |
Autoimmune Hepatitis |
|
Increased total bilirubin, Splenomegaly |
ORPHA:2137 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia |
ORPHA:348 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Martinez-Frias Syndrome |
|
Extrahepatic biliary duct atresia, Pancreatic hypoplasia, Hypoplasia of the gallbladder, Annular ... |
OMIM:601346 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Hyperbilirubinemia |
ORPHA:464321 |
Immunodeficiency 87 And Autoimmunity |
|
Recurrent bacterial infections, Sepsis, Recurrent fungal infections, Recurrent viral infections, ... |
OMIM:619573 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Recurrent bacterial infections, B lymphocytopenia, Recurrent ear infections, Recurrent fungal inf... |
ORPHA:221139 |
Reynolds Syndrome |
|
Calcinosis, Hyperbilirubinemia, Splenomegaly |
OMIM:613471 |
Mitchell-Riley Syndrome |
|
Hyperbilirubinemia |
OMIM:615710 |
Senior-Boichis Syndrome |
|
Hepatosplenomegaly, Anemia, Increased total bilirubin |
ORPHA:84081 |
Idiopathic Bronchiectasis |
|
Recurrent Haemophilus influenzae infections, Recurrent lower respiratory tract infections |
ORPHA:60033 |
Parenteral Nutrition-Associated Cholestasis |
|
Abnormal circulating fatty-acid concentration, Conjugated hyperbilirubinemia, Hyperlipidemia, Spl... |
ORPHA:567983 |
Vici Syndrome |
|
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Chronic ... |
OMIM:242840 |
Shwachman-Diamond Syndrome 1 |
|
Neutropenia, Anemia, Recurrent infections, Persistence of hemoglobin F, Acute myeloid leukemia, P... |
OMIM:260400 |
Caroli Disease |
|
Leukocytosis, Conjugated hyperbilirubinemia, Splenomegaly |
ORPHA:53035 |
Gaisböck Syndrome |
|
Hyperproteinemia, Increased red blood cell count, Increased circulating renin level, Hyperuricemi... |
ORPHA:90041 |
Leukocyte Adhesion Deficiency |
|
Recurrent bacterial infections, Leukocytosis, Thrombocytosis, Sepsis, BCGosis, Polycythemia, Recu... |
ORPHA:2968 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Recurrent bacterial infections, Molluscum contagiosum, Severe cytomegalovirus infection |
OMIM:300291 |
Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
Immunodeficiency 47 |
|
Recurrent bacterial infections, Normocytic anemia, Leukopenia, Recurrent infections, Splenomegaly... |
OMIM:300972 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Mannosidosis, Alpha B, Lysosomal |
|
Recurrent bacterial infections, Vacuolated lymphocytes, Splenomegaly |
OMIM:248500 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90673 |
Degcags Syndrome |
|
Leukopenia, Iron deficiency anemia, Congenital hypoplastic anemia, Anemia, Hyperbilirubinemia, Ab... |
OMIM:619488 |
Primary Ciliary Dyskinesia |
|
Asplenia, Recurrent sinopulmonary infections, Recurrent otitis media, Recurrent mycobacterial inf... |
ORPHA:244 |
Yellow Fever |
|
Leukocytosis, Elevated circulating creatine kinase concentration, Elevated circulating creatinine... |
ORPHA:99829 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... |
OMIM:208540 |
Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia |
ORPHA:186 |
Thymoma |
|
Leukemia, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia |
ORPHA:99867 |
Mirizzi Syndrome |
|
Hyperbilirubinemia |
ORPHA:521219 |
Cranioectodermal Dysplasia 2 |
|
Polysplenia, Hyperbilirubinemia, Splenomegaly |
OMIM:613610 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:141750 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90674 |
Isolated Biliary Atresia |
|
Conjugated hyperbilirubinemia, Splenomegaly |
ORPHA:30391 |
Blackfan-Diamond Anemia |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... |
ORPHA:124 |
Fructose Intolerance, Hereditary |
|
Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Hyperuricosuria, Bicarbonaturia |
OMIM:229600 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Anemia, Hypocalcemia, Pancytopenia |
OMIM:613658 |
X-Linked Intellectual Disability, Nascimento Type |
|
Neutropenia, Neonatal hyperbilirubinemia |
ORPHA:163956 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Recurrent bacterial infections |
OMIM:241410 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Recurrent urinary tract infections, Infectious encephalitis, Abnormal hemoglobin |
ORPHA:847 |
Hardikar Syndrome |
|
Hyperbilirubinemia, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Thrombocytopenia |
OMIM:301068 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Hyperbilirubinemia |
ORPHA:562639 |
Chromomycosis |
|
Recurrent bacterial infections |
ORPHA:182 |
Lead Poisoning |
|
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentrat... |
ORPHA:330015 |
Matthew-Wood Syndrome |
|
Aplasia/Hypoplasia of the pancreas, Cryptorchidism, Abnormal spleen morphology, Annular pancreas |
ORPHA:2470 |
Postinfectious Vasculitis |
|
Persistent human papillomavirus infection, Severe varicella zoster infection, Severe cytomegalovi... |
ORPHA:48435 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Biliary Malformation With Renal Tubular Insufficiency |
|
Conjugated hyperbilirubinemia |
OMIM:210550 |
Glycogen Storage Disease Ib |
|
Recurrent bacterial infections, Neutropenia |
OMIM:232220 |
Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections |
ORPHA:2176 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hyperbilirubinemia |
OMIM:619475 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hyperbilirubinemia |
OMIM:218700 |
Igg4-Related Thyroid Disease |
|
Goiter, Retroperitoneal fibrosis, Nodular goiter, Abnormality of the pituitary gland, Euthyroid g... |
ORPHA:64744 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Conjugated hyperbilirubinemia |
OMIM:208500 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia, Splenomegaly, Hypercholesterol... |
OMIM:619534 |
Duodenal Neuroendocrine Tumor |
|
Lymphadenopathy, Increased hematocrit, Iron deficiency anemia |
ORPHA:100076 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Chronic neutropenia, Recurrent bacterial infections, Abnormal myeloid leukocyte morphology, Anemia |
ORPHA:79259 |
Lysinuric Protein Intolerance |
|
Recurrent bacterial infections, Leukopenia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Hemopha... |
ORPHA:470 |
Igg4-Related Submandibular Gland Disease |
|
Abnormal salivary gland morphology, Cholangitis, Abnormal pancreas morphology, Retroperitoneal fi... |
ORPHA:449432 |
Aceruloplasminemia |
|
Abnormal pancreas morphology, Elevated hepatic iron concentration |
ORPHA:48818 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Neonatal hyperbilirubinemia |
OMIM:300896 |
Atrial Septal Defect, Coronary Sinus Type |
|
Recurrent bacterial infections |
ORPHA:99104 |
Atrial Septal Defect, Ostium Secundum Type |
|
Recurrent bacterial infections |
ORPHA:99103 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent infections |
ORPHA:2273 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Anemia, Recurrent Staphylococcus aureus infections |
ORPHA:642 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Hepatoblastoma, Splenomegaly, Pseudohypoparathyroidism, Abnormal pancreas morpholog... |
ORPHA:116 |