Ras-Associated Autoimmune Leukoproliferative Disorder |
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Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Follicular h... |
OMIM:614470 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Dyspnea, Anemia, Thrombocytopenia |
ORPHA:517 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Decreased serum iron, Hypereo... |
OMIM:212050 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Immunodeficiency 88 |
|
Asthma, Eosinophilia |
OMIM:619630 |
Hypereosinophilic Syndrome, Idiopathic |
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Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
Fetal Cytomegalovirus Syndrome |
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Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Immunodeficiency 48 |
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Absence of CD8-positive T cells, Hepatomegaly, Pneumonia, Splenomegaly |
OMIM:269840 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
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Asthma, Leukopenia, Monocytosis, Bone marrow hypocellularity, Refractory anemia, Acute myeloid le... |
OMIM:616871 |
Ichthyosis-Prematurity Syndrome |
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Neonatal respiratory distress, Eosinophilia |
ORPHA:88621 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
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Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Abnormality of th... |
OMIM:155100 |
Omenn Syndrome |
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Hepatomegaly, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lym... |
OMIM:603554 |
Immunodeficiency 15A |
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Decreased proportion of CD8-positive T cells, Recurrent sinusitis, Decreased proportion of CD4-po... |
OMIM:618204 |
Anemia, Congenital Dyserythropoietic, Type Ib |
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Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Juvenile Temporal Arteritis |
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Allergic rhinitis, Eosinophilia, Leukocytosis |
ORPHA:26137 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
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Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Autoimmune Lymphoproliferative Syndrome |
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Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:601859 |
Immunodeficiency 97 With Autoinflammation |
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Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... |
OMIM:619802 |
Myh9-Related Disease |
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Nephritis, Neutrophil inclusion bodies, Nephropathy, Congenital thrombocytopenia, Increased mean ... |
ORPHA:182050 |
Immunodeficiency 7 |
|
Lymphadenopathy, Hypereosinophilia |
OMIM:615387 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... |
OMIM:616860 |
Dysplasia Of Head Of Femur, Meyer Type |
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Enlarged tonsils, Leukocytosis |
ORPHA:168621 |
Immunodeficiency 11B With Atopic Dermatitis |
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Asthma, Eosinophilia, Pneumonia |
OMIM:617638 |
Fechtner syndrome |
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Nephritis, Neutrophil inclusion bodies, Hematuria, Leukocyte inclusion bodies, Proteinuria, Giant... |
OMIM:153640 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Immunodeficiency 91 And Hyperinflammation |
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Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophag... |
OMIM:619644 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
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Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Bone marrow hy... |
ORPHA:86841 |
Slc35A1-Cdg |
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Respiratory distress, Giant platelets, Neutropenia, Hypoxemia, Pneumonia, Thrombocytopenia, Abnor... |
ORPHA:238459 |
Neutrophilia, Hereditary |
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Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
Immunodeficiency 14B, Autosomal Recessive |
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Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Recurrent sinusitis, Thrombocytosis, ... |
OMIM:619281 |
Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD8-positive T cells, Sinusitis, Decreased proportion of CD4-positive hel... |
OMIM:312863 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
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Eosinophilia, Lymphopenia |
ORPHA:2582 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
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Myeloproliferative disorder, Eosinophilia |
OMIM:131440 |
Bleeding Disorder, Platelet-Type, 15 |
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Increased mean platelet volume, Thrombocytopenia, Epistaxis, Platelet anisocytosis |
OMIM:615193 |
Neutropenia, Lethal Congenital, With Eosinophilia |
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Eosinophilia, Neutropenia |
OMIM:257100 |
Bleeding Disorder, Platelet-Type, 24 |
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Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
Bleeding Disorder, Platelet-Type, 16 |
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Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... |
OMIM:187800 |
Kimura Disease |
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Eosinophilia, Follicular hyperplasia, Lymphadenopathy, Abnormal salivary gland morphology |
ORPHA:482 |
Cinca Syndrome |
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Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hepatosplenome... |
OMIM:607115 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Anemia of inadequate production, Hepatomegaly, Anisocytosis, Increased RBC distribution width, Sc... |
OMIM:613673 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:603909 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor ex... |
OMIM:602450 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... |
OMIM:300908 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... |
ORPHA:169154 |
Generalized Eruptive Histiocytosis |
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Histiocytosis, Leukemia, Hypereosinophilia |
ORPHA:157991 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
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Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Thrombocytopenia 2 |
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Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Nevoid Hypermelanosis, Linear And Whorled |
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Eosinophilia |
OMIM:614323 |
Platelet Glycoprotein Iv Deficiency |
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Thrombocytopenia, Giant platelets |
OMIM:608404 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Nephrotic syndrome, Lymphocytosis, Abnormality of the lymph nodes, Eosinophilia, Hepatosplenomega... |
ORPHA:911 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
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Cryptorchidism, Monocytosis, Micropenis |
OMIM:610680 |
Hemoglobin D Disease |
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Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Immunodeficiency 52 |
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Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Trimethylaminuria |
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Splenomegaly, Recurrent pneumonia, Neutropenia, Trimethylaminuria, Anemia |
OMIM:602079 |
Giant platelet syndrome with thrombocytopenia |
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Thrombocytopenia, Giant platelets |
OMIM:137560 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
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Gonadal dysgenesis, Decreased proportion of CD8-positive T cells, Abnormality of the tonsils, Dec... |
OMIM:611926 |
Halothane Hepatitis |
|
Eosinophilia, Hepatitis, Viral hepatitis, Jaundice |
OMIM:234350 |
Omenn Syndrome |
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Nephrotic syndrome, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte m... |
ORPHA:39041 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
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Asthma, Nephrotic syndrome, Eosinophilic liver infiltration, Eosinophilia, Hepatosplenomegaly, Me... |
OMIM:618999 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... |
OMIM:231200 |
Overhydrated Hereditary Stomatocytosis |
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Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Idiopathic Chronic Eosinophilic Pneumonia |
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Asthma, Elevated circulating C-reactive protein concentration, Leukocytosis, Nonproductive cough,... |
ORPHA:2902 |
Sitosterolemia 1 |
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Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Impaired platelet aggregation, Chronic ... |
OMIM:210250 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Decr... |
OMIM:607616 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Prolonged neonatal jaundice, S... |
OMIM:224120 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia |
ORPHA:2688 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
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Lymphopenia, Eosinophilia, Hepatosplenomegaly, Hepatitis, Recurrent pneumonia, Pneumonia, Decreas... |
ORPHA:169160 |
Hepatorenocardiac Degenerative Fibrosis |
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Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... |
OMIM:619902 |
Cd8 Deficiency, Familial |
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Bronchiectasis, Absence of CD8-positive T cells |
OMIM:608957 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Lymphopenia, Cryptorchidism, Hepatomegaly, Splenomegaly, Hypoplasia of the thymus, Monocytosis, H... |
OMIM:612541 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
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Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis |
OMIM:619398 |
Immunodeficiency 69 |
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Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... |
OMIM:618963 |
Cystic Echinococcosis |
|
Asthma, Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Hyperbilirubinem... |
ORPHA:400 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Splenomegaly, Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Epistaxis |
OMIM:153670 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Macrosomia Adiposa Congenita |
|
Eosinophilia |
OMIM:248100 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
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Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
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Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Lymphopenia, Rhinitis, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, ... |
ORPHA:486 |
Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, T lymphocytopenia, Pneumonia, Lymphadenopathy |
OMIM:608971 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Hep... |
OMIM:615234 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... |
OMIM:617241 |
Eosinophilic Gastroenteritis |
|
Asthma, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Allerg... |
ORPHA:2070 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Dyspnea, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... |
OMIM:613496 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology, Respiratory insufficiency, Cough, Restrictive ventilatory defect,... |
ORPHA:724 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphopenia, Hepatomegaly, Eosinophilia, Hepatosplenomegaly, Lymphadenitis... |
ORPHA:331206 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hyper... |
OMIM:603552 |
Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Roifman Syndrome |
|
Hypogonadotropic hypogonadism, Eosinophilia, Hepatosplenomegaly, Recurrent pneumonia, Lymphadenop... |
ORPHA:353298 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... |
OMIM:205950 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Dyspnea, Thrombocytopenia, Acute le... |
ORPHA:231401 |
Rh Deficiency Syndrome |
|
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem... |
ORPHA:71275 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Lymphadenop... |
OMIM:619164 |
Roifman Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Recurrent pneumonia, Lymphadenopathy |
OMIM:616651 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly |
OMIM:206400 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Dyspnea, Anemia, Splenomegaly |
ORPHA:75563 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,... |
OMIM:237800 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Neutropenia, Lymphopenia, Chronic pulmonary obstruction, Abnormally low T cell receptor excision ... |
OMIM:618986 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Increased mean platelet volume, Thrombocytopenia, Hydronephrosis |
OMIM:300048 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Eosinophilopenia |
|
Allergic rhinitis, Decreased eosinophil count |
OMIM:131430 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Asthma, Sinusitis, Lymphopenia, Hepatomegaly, Diffuse mesangial sclerosis, Splenomegaly, Aplasia ... |
OMIM:102700 |
Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Neutropen... |
OMIM:304790 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Bronchiectasis, Eosinophilia |
OMIM:618282 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli... |
ORPHA:98849 |
Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic fibr... |
OMIM:613313 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... |
ORPHA:75564 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis... |
ORPHA:231226 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Asthma, Eosinophilia |
OMIM:618092 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... |
ORPHA:98870 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, R... |
ORPHA:848 |
Lymphatic Filariasis |
|
Hydrocele testis, Nephrotic syndrome, Orchitis, Urethral obstruction, Abnormality of the scrotum,... |
ORPHA:2035 |
Aspergillosis |
|
Bronchiectasis, Asthma, Sinusitis, Chronic pulmonary obstruction, Abnormality of the kidney, Eosi... |
ORPHA:1163 |
Syndromic Diarrhea |
|
Lymphopenia, Hepatomegaly, Hepatoblastoma, Splenomegaly, Cirrhosis, Hypoplasia of the thymus, Inc... |
ORPHA:84064 |
Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Recurrent pneumonia, T lymphocytopenia |
OMIM:610163 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Asthma, Eosinophilia, Recurrent sinusitis, Decreased proportion of CD4-positive helper T cells, R... |
OMIM:243700 |
Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia, Elevated circulating creatine kinase concentration |
OMIM:253600 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Bronchiec... |
OMIM:615513 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... |
OMIM:209950 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume, Lymphadenopathy |
OMIM:617718 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Autoimmune thrombocytopenia, Mediastinal lymphadenopathy, Recurrent sinusitis, Decr... |
OMIM:300853 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Nephrotic syndrome, Lymphocytosis, Eosinophilia, Interstitial pneumonitis, Cough, Hepatitis, Tubu... |
ORPHA:139402 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly,... |
OMIM:613101 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Aminoaciduria, Anisocytosis, Renal hypoplasia, 3-Methylglutaconic aciduria, Lactica... |
OMIM:604273 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Anemia, ... |
ORPHA:100024 |
Immunodeficiency 50 |
|
Recurrent urinary tract infections, Lymphopenia, Neutropenia |
OMIM:300988 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hypospadias, Cholestasis, Abnormality of the pancreas, Inc... |
OMIM:222470 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Abnormality of the lymph nod... |
ORPHA:54251 |
Encephalopathy Due To Prosaposin Deficiency |
|
Respiratory insufficiency, Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Myeloproliferative Syndrome, Transient |
|
Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Hepatocellular necrosis, Hepatomegaly, Microvesicular hepatic ... |
OMIM:618278 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Bronchiectasis, Eosinophilia |
OMIM:618523 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eosinophilia, Cutaneous abscess, Recurrent pneumonia |
OMIM:147060 |
Pgm3-Cdg |
|
Cutaneous abscess, Bronchiectasis, Asthma, Abnormal proportion of CD8-positive T cells, Lymphopen... |
ORPHA:443811 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Recurrent pneumonia, Neu... |
OMIM:150550 |
Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Thrombocytopenia, Epistaxis, Splenomegaly |
ORPHA:721 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Hepatomegaly, Splenomegaly |
OMIM:619175 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Elevated circulating C-reactive protein concentration, Hepatomegaly, Splenomegaly, Hypereosinophi... |
OMIM:617388 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... |
ORPHA:158057 |
Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... |
ORPHA:98826 |
Alpha-1-Antitrypsin Deficiency |
|
Panacinar emphysema, Reduced serum alpha-1-antitrypsin, Chronic pulmonary obstruction, Splenomega... |
OMIM:613490 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Hypoplasia of penis, Splenomegaly, Hypospadias, Abnormality of the uret... |
ORPHA:1046 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Alveolar Echinococcosis |
|
Cutaneous abscess, Abnormality of bladder morphology, Pancreatic cysts, Abnormal spleen morpholog... |
ORPHA:284 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... |
ORPHA:2585 |
Eosinophilic Fasciitis |
|
Eosinophilia, Abnormal eosinophil morphology |
ORPHA:3165 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Lymphopenia, Cirrhosis, Hypogonadotropic hypogonadi... |
OMIM:604250 |
Immunodeficiency 49 |
|
Eosinophilia, Lymphopenia |
OMIM:617237 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Nephrotic syndrome, Hepatomegaly, Nephritis, Renal tubular atrophy, Splenom... |
OMIM:617303 |
Cyclic Neutropenia |
|
Sinusitis, Lymphopenia, Recurrent tonsillitis, Cervical lymphadenopathy, Peritonitis, Cyclic neut... |
ORPHA:2686 |
Bernard-Soulier Syndrome |
|
Asthma, Partially duplicated kidney, Impaired ristocetin-induced platelet aggregation, Macroscopi... |
ORPHA:274 |
Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Abnormal eosinophil morphology, Respiratory insufficiency, Cough, Emphysema, Bronchiectas... |
ORPHA:1164 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Epistaxis, Macrothrombocytopenia |
OMIM:616176 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Splenomegaly |
OMIM:619813 |
Peeling Skin Syndrome 1 |
|
Asthma, Eosinophilia |
OMIM:270300 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Kaposiform Lymphangiomatosis |
|
Lymphangioma, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Abnormality of the ly... |
ORPHA:464329 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... |
ORPHA:231222 |
Familial Male-Limited Precocious Puberty |
|
Oligospermia, Precocious puberty, Long penis, Macroorchidism |
ORPHA:3000 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
Immunodeficiency 64 |
|
Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Cervical lymphade... |
OMIM:618534 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Hepatomegaly, Splenome... |
OMIM:615559 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... |
ORPHA:846 |
Lathosterolosis |
|
Hyperbilirubinemia, Ambiguous genitalia, male, Hepatosplenomegaly, Anisopoikilocytosis, Acanthocy... |
OMIM:607330 |
Burkitt Lymphoma |
|
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Decreased... |
ORPHA:543 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Mccune-Albright Syndrome |
|
Renal phosphate wasting, Renal tubular dysfunction, Elevated circulating growth hormone concentra... |
ORPHA:562 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... |
OMIM:612840 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Bone marrow hypocellularity, Reticuloc... |
ORPHA:3261 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy, Ascites |
ORPHA:100025 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Neutropenia |
OMIM:162800 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Takenouchi-Kosaki Syndrome |
|
Unilateral renal agenesis, Hypospadias, Increased mean platelet volume, Hydronephrosis, Cryptorch... |
OMIM:616737 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukoc... |
ORPHA:1302 |
Babesiosis |
|
Hepatomegaly, Splenomegaly, Leukopenia, Respiratory insufficiency, Cough, Hemolytic anemia, Renal... |
ORPHA:108 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, Interstitial pneumonitis, B l... |
ORPHA:231154 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Eosinophilia, Recurrent urinary tract infections, Pancytopenia, Thrombocyto... |
ORPHA:90045 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Lymphoproliferative Syndrome 1 |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:613011 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... |
OMIM:607594 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Anisocytosis, Decreased serum iron, Poikilocytosis, Elliptocyt... |
OMIM:616959 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Pancreatitis, Hepatomegaly, Hyperammonemia, Splenomegaly, Renal insufficien... |
ORPHA:79312 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Lymphocytic interstitial pneumonia, Splenomegaly, Recurrent urinary tract infection... |
OMIM:618495 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count,... |
ORPHA:3226 |
Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187950 |
Immunodeficiency 23 |
|
Asthma, Lymphopenia, Eosinophilia, Abscess, Membranoproliferative glomerulonephritis, Hemolytic a... |
OMIM:615816 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Orotic Aciduria |
|
Hypochromia, Oroticaciduria, Folate-unresponsive megaloblastic anemia, Anisocytosis, Hematuria, P... |
OMIM:258900 |
Non-Functioning Pituitary Adenoma |
|
Abnormality of the pituitary gland, Anemia of inadequate production, Adrenocorticotropic hormone ... |
ORPHA:91349 |
Immunodeficiency 102 |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Increased proportion of CD8-p... |
OMIM:301082 |
Leishmaniasis |
|
Hepatomegaly, Rhinitis, Splenomegaly, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia... |
ORPHA:507 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level, Splenomegaly |
OMIM:612126 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Cholestasis, Conjugated hyperbilirubinemia, Prote... |
OMIM:620010 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Igg4-Related Kidney Disease |
|
Abnormal ureter morphology, Elevated circulating C-reactive protein concentration, Pancreatitis, ... |
ORPHA:449395 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Igg4-Related Aortitis |
|
Elevated circulating C-reactive protein concentration, Asthma, Hypereosinophilia, Hydronephrosis |
ORPHA:449400 |
Loeffler Endocarditis |
|
Dyspnea, Left ventricular hypertrophy, Eosinophilia, Cough |
ORPHA:75566 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:124900 |
Immunodeficiency 54 |
|
Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, Respiratory insufficiency, Respir... |
OMIM:609981 |
Galactosemia Iii |
|
Hepatomegaly, Aminoaciduria, Splenomegaly, Hypergalactosemia, Galactosuria, Jaundice |
OMIM:230350 |
Glycogen Storage Disease Ib |
|
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... |
OMIM:232220 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
Schnitzler Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy |
ORPHA:37748 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Nephrotic syndrome, Podocyte foot process effacement, Impaired lymphocyte transformation with phy... |
OMIM:617006 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Cholestasis, Abnormality of thrombocytes, Jaundice |
ORPHA:172 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Neutropenia |
OMIM:615214 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisopoikilocy... |
OMIM:616689 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly |
OMIM:611762 |
Harderoporphyria |
|
Increased circulating ferritin concentration, Increased urine harderoporphyrin level, Hepatomegal... |
OMIM:618892 |
Megalencephaly |
|
Long penis, Macroorchidism |
ORPHA:2477 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Iron deficiency anemia, Hepatic fibrosis, Portal ... |
OMIM:616278 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... |
OMIM:619375 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... |
OMIM:308240 |
Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Apnea, Leukocytosis, Lymphadenitis, Respiratory ins... |
OMIM:618886 |
H Syndrome |
|
Histiocytosis, Micropenis, Abnormality of the kidney, Hepatosplenomegaly, Enlarged kidney, Chroni... |
ORPHA:168569 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplas... |
OMIM:300635 |
Immunodeficiency 72 With Autoinflammation |
|
Hepatosplenomegaly, Increased B cell count, Bronchiectasis, Lymphadenopathy, Increased proportion... |
OMIM:618982 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Pancreatitis, Neutrophilia, Cervical lymphadenopathy, Portal fibrosis, Sple... |
ORPHA:3260 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Respiratory insufficiency, Leukocytosis, Splenomegaly |
OMIM:618042 |
Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Cough, Dyspnea, Lymphadenopathy |
ORPHA:98293 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy |
ORPHA:66661 |
Caspase 8 Deficiency |
|
Asthma, Splenomegaly, Pneumonia, Decreased CD4:CD8 ratio, Lymphadenopathy |
OMIM:607271 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Cystic renal dysplasia, Cholestasis, Enlarged kidney, Hepatic fibrosis, Asplenia |
OMIM:615415 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, B Acute Lymphoblast... |
OMIM:619824 |
Gaucher Disease Type 2 |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Cough, Abnormal pattern of respiration |
ORPHA:77260 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Respiratory insufficiency, Pancytopenia, Thromboc... |
OMIM:610333 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... |
OMIM:266200 |
Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
Immunodeficiency 105 |
|
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Absence of lymph node germ... |
OMIM:619924 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Spontaneous pneumothorax, Jaund... |
ORPHA:731 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Enlarged kidney, Hepatic cys... |
OMIM:208540 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Leukemia, Neutropenia |
OMIM:614082 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:615085 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Bone marrow hypocellularity, Anemia... |
OMIM:619041 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, T lymphocytopenia |
DECIPHER:16 |
Netherton Syndrome |
|
Asthma, Hypereosinophilia, Allergic rhinitis |
OMIM:256500 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Adrenocorticotropic hormone deficiency, Pituitary adenoma, Eosinophilia, Norm... |
ORPHA:199299 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Decreased transf... |
ORPHA:300298 |
Hemochromatosis, Type 2A |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotr... |
OMIM:602390 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Pancreatitis, Elevated circulating C-reactive protein concentration, Nephritis, Eosino... |
ORPHA:449427 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, Ab... |
ORPHA:91547 |
Wiskott-Aldrich Syndrome |
|
Lymphopenia, Eosinophilia, Nephropathy, Absent microvilli on the surface of peripheral blood lymp... |
OMIM:301000 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Nonspherocytic hemolytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Normocytic ane... |
OMIM:235700 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin... |
OMIM:619868 |
Combined Saposin Deficiency |
|
Hepatomegaly, Splenomegaly |
OMIM:611721 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:417 |
17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Selective Igm Deficiency |
|
Asthma, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transitiona... |
ORPHA:331235 |
Tyrosinemia Type 1 |
|
Generalized aminoaciduria, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly |
ORPHA:882 |
Galactose Epimerase Deficiency |
|
Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:79238 |
Sandhoff Disease |
|
Hepatomegaly, Splenomegaly |
ORPHA:796 |
Diffuse Alveolar Hemorrhage |
|
Airway obstruction, Pulmonary venous hypertension, Increased DLCO, Leukocytosis, Hematuria, Respi... |
ORPHA:90060 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Increased level of L-pyroglutamic acid in urine, Neutropenia |
OMIM:266130 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Exertion... |
OMIM:133100 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Increased blood urea nitrogen, Macroscopic hematuria, Membranoprolifer... |
ORPHA:251004 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Follicular hyperplasia, Autoimmune thrombocytopenia, Decreased proportion of class-s... |
OMIM:619846 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Sickle Cell Anemia |
|
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Hematuria, Hemolytic anemia, Target cel... |
OMIM:603903 |
Immunodeficiency 13 |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Recurrent sinusitis, Decreased proportion of C... |
OMIM:615518 |
Acute Peripheral Arterial Occlusion |
|
Leukocytosis |
ORPHA:90064 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Nephrotic syndrome, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomegaly, Abscess... |
OMIM:618935 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Epistaxis |
OMIM:314050 |
Transcobalamin Deficiency |
|
Neutropenia, Lymphopenia, Methylmalonic aciduria, Acute kidney injury, Pancytopenia, Thrombocytop... |
ORPHA:859 |
Coccidioidomycosis |
|
Respiratory distress, Pancreatitis, Abnormality of the kidney, Eosinophilia, Abscess, Abnormality... |
ORPHA:228123 |
Gaucher Disease, Type Ii |
|
Apnea, Hepatomegaly, Splenomegaly, Recurrent aspiration pneumonia, Anemia, Thrombocytopenia |
OMIM:230900 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Bone marrow hy... |
OMIM:301078 |
Immunodeficiency 32B |
|
Bronchiectasis, Sinusitis, Pneumonia, Splenomegaly |
OMIM:226990 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158061 |
Adult-Onset Still Disease |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Splenomegaly, ... |
ORPHA:829 |
Griscelli Syndrome Type 2 |
|
Neutropenia, Hyperlipidemia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphade... |
ORPHA:79477 |
Immunodeficiency 89 And Autoimmunity |
|
Asthma, Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia, Pul... |
OMIM:619632 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Asthma, Sinusitis, Eosinophilia, Respiratory insufficiency, Hematuria, Cough, Tubulointerstitial ... |
ORPHA:183 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Sinusitis, Lymphopenia, Nephropathy, Absent microvilli on the surface of peripheral blood lymphoc... |
OMIM:600903 |
47,Xyy Syndrome |
|
Asthma, Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Varicocele, Azoospermia, Increased... |
ORPHA:8 |
Storage Pool Platelet Disease |
|
Acute leukemia, Decreased mean platelet volume |
OMIM:185050 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thrombocytopenia |
ORPHA:158029 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal tubular dysfunction, Respiratory distress, Pancreatitis, Hepatomegaly, Hyperammonemia, Rena... |
ORPHA:289916 |
Whim Syndrome 1 |
|
Bronchiectasis, Abnormality of female external genitalia, Abnormal morphology of female internal ... |
OMIM:193670 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration, Cholestas... |
OMIM:619658 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... |
OMIM:618398 |
Primary Myelofibrosis |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Throm... |
ORPHA:824 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Splenomegaly, Respiratory paralysis, Increased urinary porphobilinogen, Elevated ur... |
OMIM:121300 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:616050 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Reduced circulating prolactin concentration, Macroorchidism |
OMIM:264120 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Lymphopenia, Hepatic cysts |
OMIM:617425 |
Immunodeficiency 17 |
|
T lymphocytopenia, Decreased proportion of CD8-positive T cells, Abnormal B cell morphology, Anop... |
OMIM:615607 |
Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukoc... |
ORPHA:36238 |
Tularemia |
|
Respiratory distress, Leukocytosis, Abnormal nasopharyngeal adenoid morphology, Anemia, Cervical ... |
ORPHA:3392 |
Fragile X Syndrome |
|
Sinusitis, Macroorchidism |
ORPHA:908 |
Aregenerative Anemia |
|
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... |
ORPHA:101096 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Recurrent pneu... |
OMIM:615122 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosi... |
OMIM:182900 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Igg4-Related Submandibular Gland Disease |
|
Abnormal pancreas morphology, Sialadenitis, Prostatitis, Abnormality of the kidney, Eosinophilia,... |
ORPHA:449432 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Congenital macroorchidism |
OMIM:300624 |
Autoimmune Hemolytic Anemia |
|
Abnormal leukocyte morphology, Abnormal urinary color, Splenomegaly, Hemolytic anemia, Dyspnea |
ORPHA:98375 |
Sarcoidosis |
|
Hepatomegaly, Thrombocytopenia, Enlarged lacrimal glands, Enlargement of parotid gland, Nephrolit... |
ORPHA:797 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Erythrocytosis, Familial, 8 |
|
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Polycythemia, Normocytic anemia, C... |
OMIM:222800 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... |
ORPHA:98848 |
Nephronophthisis 2 |
|
Nephronophthisis, Chronic tubulointerstitial nephritis, Absence of renal corticomedullary differe... |
OMIM:602088 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hyperparathyroidism, Anemia, Hepatomegaly, Splenomegaly |
OMIM:618107 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia |
OMIM:611490 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrocele testis, Congenital thrombocytopenia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:616738 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria |
OMIM:105200 |
Acute Monoblastic/Monocytic Leukemia |
|
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopat... |
ORPHA:514 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Apnea, Male hypogonadism, Macroorchidism |
OMIM:300055 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hypogonadism, Hepatomegaly, Splenomegaly |
OMIM:608540 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Macrothrombocytopenia, Proteinuria, Neutropenia, Thrombocytopenia, Decreased plate... |
OMIM:603585 |
Functioning Gonadotropic Adenoma |
|
Adrenocorticotropic hormone deficiency, Abnormal prolactin level, Decreased response to growth ho... |
ORPHA:91348 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Male pseudohermaphroditism, Endometrial carcinoma, Female external genitalia in individual with 4... |
ORPHA:90790 |
Infantile Sialic Acid Storage Disease |
|
Nephrotic syndrome, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubin... |
OMIM:269920 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Prolonged neonatal jaundice, Increased LDL cholesterol c... |
OMIM:616828 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Increas... |
OMIM:194380 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Nephropathy, Focal segmental glomerulosclerosis, Renal cyst, Hyperuricemi... |
OMIM:617056 |
Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:612653 |
Mucoepithelial Dysplasia, Hereditary |
|
Eosinophilia, Hematuria, Recurrent pneumonia, Rhinorrhea, Pneumonia |
OMIM:158310 |
Chronic Beryllium Disease |
|
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Mediastina... |
ORPHA:133 |
Wolfram Syndrome, Mitochondrial Form |
|
Megaloblastic anemia, Sideroblastic anemia, Hydroureter, Hydronephrosis, Neutropenia, Thrombocyto... |
OMIM:598500 |
Congenital Erythropoietic Porphyria |
|
Splenomegaly, Anisocytosis, Leukopenia, Increased erythrocyte protoporphyrin concentration, Incre... |
ORPHA:79277 |
Immunodeficiency 36 |
|
Lymphopenia, Enlarged tonsils, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decre... |
OMIM:616005 |
Spherocytosis, Type 2 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosi... |
OMIM:616649 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Unilateral renal agenesis, Hypospadias, Abnormality of the lymphatic system, Increased mean plate... |
ORPHA:487796 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:3077 |
Polyembryoma |
|
Elevated alpha-fetoprotein, Isosexual precocious puberty, Abnormality of the peritoneum, Abdomina... |
ORPHA:180229 |
Clark-Baraitser syndrome |
|
Macroorchidism |
OMIM:300602 |
Hepatoportal Sclerosis |
|
Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa... |
ORPHA:64743 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Nonspherocytic hemolytic anemia, Cholelithiasis, Splenomegaly, Spontaneous hemolytic crises, Impa... |
OMIM:613470 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... |
OMIM:159550 |
Isolated Splenogonadal Fusion |
|
Hydrocele testis, Abnormal penis morphology, Abnormality of the scrotum, Unilateral cryptorchidis... |
ORPHA:457083 |
Splenoportal Vascular Anomalies |
|
Hyperammonemia, Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous... |
OMIM:271500 |
Classic Mycosis Fungoides |
|
Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:2584 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Anemia of inadequate production, Exocrine pancreatic insufficiency, Asthma, Hepatomegaly, Splenom... |
OMIM:612714 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis... |
OMIM:185000 |
Hereditary Elliptocytosis |
|
Cholelithiasis, Prolonged neonatal jaundice, Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, ... |
ORPHA:288 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Airway obstruction, Nephrotic syndrome, Leukopenia, Hepatosplenomegaly, Hep... |
ORPHA:505248 |
Macrocephaly/Autism Syndrome |
|
Lymphopenia, Hepatomegaly, Splenomegaly |
OMIM:605309 |
Farber Lipogranulomatosis |
|
Respiratory insufficiency, Hepatomegaly, Lipogranulomatosis, Splenomegaly |
OMIM:228000 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
OMIM:300431 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholeste... |
OMIM:612526 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Epistaxis, Decreased mean platelet volume |
OMIM:273900 |
Xp22.13P22.2 Duplication Syndrome |
|
Polycystic ovaries, Macroorchidism |
ORPHA:284180 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Pleural effusion, Lymph... |
ORPHA:545 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Urachal cyst, Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, I... |
OMIM:608203 |
Tyrosinemia, Type I |
|
Hypophosphatemic rickets, Hepatomegaly, Splenomegaly, Elevated alpha-fetoprotein, Cirrhosis, Hepa... |
OMIM:276700 |
Lujan-Fryns Syndrome |
|
Macroorchidism |
ORPHA:776 |
Nephronophthisis 16 |
|
Periportal fibrosis, Nephronophthisis, Cholestasis, Enlarged kidney, Polycystic kidney dysplasia,... |
OMIM:615382 |
Unclassified Myelodysplastic Syndrome |
|
Bone marrow hypocellularity, Acute myeloid leukemia, Leukocytosis |
ORPHA:98827 |
Hemochromatosis, Type 1 |
|
Increased circulating ferritin concentration, Testicular atrophy, Hepatomegaly, Splenomegaly, Cir... |
OMIM:235200 |
Purine Nucleoside Phosphorylase Deficiency |
|
Sinusitis, Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Incre... |
OMIM:613179 |
Gaucher Disease, Type Iii |
|
Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancytopenia |
OMIM:231000 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hypop... |
OMIM:267700 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Chronic sinusitis, Recurrent pneumonia, Neutropenia |
OMIM:613502 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Pulmonary venous hypertension, Pancreatitis, Hepatomegaly, Hepatocellular adenoma, Enlarged kidne... |
ORPHA:79259 |
Spondylometaphyseal Dysplasia, Axial |
|
Recurrent pneumonia, Restrictive ventilatory defect, Splenomegaly |
OMIM:602271 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Periportal fibrosis, Increased LDL cholesterol concentration, Splenomegaly, Cirrhos... |
OMIM:278000 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Cirrhosis, Anemia, Hepatic steatosis,... |
OMIM:606069 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Eosinophilia, Cough |
ORPHA:2314 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, Neonatal ch... |
OMIM:214900 |
Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal circulating lipid concentration, Leukopenia, Abnormality of ... |
ORPHA:381 |
Beta-Thalassemia Major |
|
Hypoparathyroidism, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomeg... |
ORPHA:231214 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Pneumocystosis |
|
Hypoxemia, Nonproductive cough, Respiratory insufficiency, Interstitial pneumonitis, Acute infect... |
ORPHA:723 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... |
OMIM:242700 |
Aggressive Systemic Mastocytosis |
|
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... |
ORPHA:98850 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Splenomegaly, Increased total bilirubin, Autoimmune hemolytic anemia, Exe... |
ORPHA:90037 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... |
ORPHA:86839 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis... |
OMIM:109270 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Recurrent sinusitis,... |
OMIM:618849 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Sialadenitis, Orchitis, Elevated circulating C-reactive protein concentration, Pancrea... |
ORPHA:449563 |
Hyperparathyroidism, Neonatal Severe |
|
Hypophosphatemia, Hepatomegaly, Aminoaciduria, Splenomegaly, Primary hyperparathyroidism, Polyuri... |
OMIM:239200 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Neonatal cholestatic liver dise... |
ORPHA:79301 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic fibrosis, Hepatomegaly, Splenomegaly |
OMIM:616719 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Methylmalonic aciduria,... |
OMIM:614857 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... |
OMIM:619463 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Neutropenia, Hepatomegaly, Abnormal T cell subset d... |
ORPHA:158048 |
Thrombocytopenia-Absent Radius Syndrome |
|
Leukocytosis, Eosinophilia, Hepatosplenomegaly, Ureteral duplication, Horseshoe kidney, Axial mal... |
OMIM:274000 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Nephronophthisis 19 |
|
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... |
OMIM:616217 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Apnea, Hepatomegaly, Enlarged kidney, Elevated circulating creatinine concentration, Respiratory ... |
OMIM:608836 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Lymphopenia, Hepatomegaly, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Decre... |
ORPHA:508533 |
Felty Syndrome |
|
Sinusitis, Hepatomegaly, Rhinitis, Splenomegaly, Recurrent urinary tract infections, Abnormal lym... |
ORPHA:47612 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Jaundice, Hyperkalemia |
OMIM:608885 |
Cinca Syndrome |
|
Elevated circulating C-reactive protein concentration, Hepatomegaly, Leukocytosis, Splenomegaly, ... |
ORPHA:1451 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Epistaxis, Neutropenia |
OMIM:616216 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmu... |
ORPHA:100026 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Hepatomegaly, Chronic pulmonary obstruction, Splenomegaly, Cough, Pulmonary... |
ORPHA:2414 |
Immunodeficiency 46 |
|
Anemia, Intermittent thrombocytopenia, Neutropenia |
OMIM:616740 |
Dysplastic Cortical Hyperostosis |
|
Abnormality of the urinary system, Hepatomegaly, Splenomegaly |
ORPHA:2204 |
Acute Panmyelosis With Myelofibrosis |
|
Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Bone marrow hypocellula... |
ORPHA:86843 |
Wolman Disease |
|
Hepatomegaly, Splenomegaly, Anemia, Bone-marrow foam cells, Ascites |
ORPHA:75233 |
Cryohydrocytosis |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly |
OMIM:185020 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia, Pneumonia |
OMIM:266265 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hypertriglyceridemia, Hypercholesterolemia, Jaundice |
ORPHA:75234 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Macroorchidism |
ORPHA:324410 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center, Neutropenia |
OMIM:606843 |
Neuraminidase Deficiency |
|
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Urinary excretion of sialylated oligosacchari... |
OMIM:256550 |
Iga Pemphigus |
|
Cutaneous abscess, Eosinophilia |
ORPHA:555905 |
Aa Amyloidosis |
|
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... |
ORPHA:85445 |
Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Respiratory fa... |
ORPHA:1930 |
Trisomy 20P |
|
Abnormality of the kidney, Abnormality of the ureter, Hypospadias, Multiple renal cysts, Abnormal... |
ORPHA:261318 |
Fanconi Anemia, Complementation Group V |
|
Elevated alpha-fetoprotein, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia |
OMIM:617243 |
Lymphoid Interstitial Pneumonia |
|
Pulmonary venous hypertension, Hepatomegaly, Hypoxemia, Crackles, Mediastinal lymphadenopathy, En... |
ORPHA:79128 |
Familial Mediterranean Fever |
|
Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Orchitis, Neutrophilia... |
OMIM:249100 |
Cold Agglutinin Disease |
|
Abnormal urinary color, Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy |
ORPHA:56425 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Pancreatitis, Hepatomegaly, Hyperammonemia, Leukopenia, Methylmalonic acidu... |
OMIM:251000 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Decreased basophil count, Pancytopenia, Bronchiectasis, Decreased proportion of mem... |
|