Immunodeficiency 69 |
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Hemophagocytosis, Failure to thrive, Increased circulating ferritin concentration, Hepatosplenome... |
OMIM:618963 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
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Cellulitis, Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Pancytopenia, Knee ... |
OMIM:604416 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
Thrombocythemia 2 |
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Thrombocytosis |
OMIM:601977 |
Dehydrated Hereditary Stomatocytosis 2 |
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Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... |
OMIM:616689 |
Thrombocythemia 3 |
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Thrombocytosis |
OMIM:614521 |
Juvenile Arthritis |
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Leukocytosis, Thrombocytosis |
OMIM:618795 |
Thrombocythemia 1 |
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Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... |
OMIM:187950 |
Acquired Idiopathic Sideroblastic Anemia |
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Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... |
ORPHA:75564 |
Polycythemia Vera |
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Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
Immunodeficiency 27A |
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Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Weight loss, Thrombocytosis, Ane... |
OMIM:209950 |
Asplenia, Isolated Congenital |
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Howell-Jolly bodies, Asplenia, Thrombocytosis |
OMIM:271400 |
Chronic Myeloid Leukemia |
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Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
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Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A... |
ORPHA:86841 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
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Elevated circulating C-reactive protein concentration, Anemia, Leukocytosis |
OMIM:619398 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
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Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... |
OMIM:617780 |
Immunodeficiency 14B, Autosomal Recessive |
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Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis |
OMIM:619281 |
Essential Thrombocythemia |
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Acute leukemia, Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Abnormal platelet morpho... |
ORPHA:3318 |
Primary Myelofibrosis |
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Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... |
ORPHA:824 |
Heme Oxygenase 1 Deficiency |
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Increased circulating ferritin concentration, Coombs-positive hemolytic anemia, Thrombocytosis, E... |
OMIM:614034 |
Sickle Cell Anemia |
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Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
Red Cell Phospholipid Defect With Hemolysis |
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Splenomegaly, Hyperbilirubinemia, Reticulocytosis |
OMIM:179700 |
Myeloproliferative Syndrome, Transient |
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Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Hyperbilirubinemia, Shunt, Primary |
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Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul... |
OMIM:237800 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
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Hypoalbuminemia, Iron deficiency anemia, Thrombocytosis, Anemia, Hypoproteinemia |
OMIM:226300 |
Immunodeficiency 92 |
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Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell... |
OMIM:619652 |
Sting-Associated Vasculopathy, Infantile-Onset |
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Failure to thrive, Lymphopenia, Leukopenia, Anemia, Thrombocytosis, Elevated circulating C-reacti... |
OMIM:615934 |
Eosinophilia, Familial |
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Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
Acute Myelomonocytic Leukemia |
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Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia |
ORPHA:517 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Hypoplasia of the thymus, Enamel hypoplas... |
OMIM:243150 |
Neutrophil Immunodeficiency Syndrome |
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Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... |
OMIM:301074 |
Beta-Ketothiolase Deficiency |
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Leukocytosis, Hyperammonemia, Hyperuricemia, Weight loss, Thrombocytosis |
ORPHA:134 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
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Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... |
OMIM:301083 |
Celiac Disease, Susceptibility To, 1 |
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Failure to thrive, Hypocalcemia, Macrocytic anemia, Iron deficiency anemia, Weight loss, Enamel h... |
OMIM:212750 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Leukopenia, Leukocytosis, Hyperammonemia, Hyperuricemia, Weight loss, Thrombocytosis, Anemia |
ORPHA:20 |
Neuroleptic Malignant Syndrome |
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Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin... |
ORPHA:94093 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocytosis, Splenomegaly, Anemia, Th... |
OMIM:615688 |
Congenital Disorder Of Glycosylation, Type Ia |
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Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Abnormal subcutaneous fat tissue distrib... |
OMIM:212065 |
Polycythemia Vera |
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Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Weight loss, Thrombocytosis |
ORPHA:729 |
Familial Thrombocytosis |
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Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Weight loss, Thrombocytosis |
ORPHA:71493 |
Poems Syndrome |
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Polycythemia, Splenomegaly, Weight loss, Lipodystrophy, Thrombocytosis |
ORPHA:2905 |
Interstitial Lung And Liver Disease |
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Intraalveolar phospholipid accumulation, Failure to thrive, Hyperammonemia, Thrombocytosis, Anemia |
OMIM:615486 |
Megaloblastic Anemia, Folate-Responsive |
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Hypersegmentation of neutrophil nuclei, Increased circulating ferritin concentration, Folate-resp... |
OMIM:601775 |
Trichohepatoenteric Syndrome 1 |
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Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Small for gestatio... |
OMIM:222470 |
Rh-Null, Amorph Type |
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Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia |
OMIM:617970 |
Spherocytosis, Type 4 |
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Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia |
OMIM:612653 |
Autoerythrocyte Sensitization Syndrome |
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Abnormal erythrocyte morphology, Impaired platelet adhesion, Autoimmune thrombocytopenia, Thrombo... |
ORPHA:324636 |
Diamond-Blackfan Anemia |
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Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
Amegakaryocytic Thrombocytopenia, Congenital, 2 |
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Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-... |
OMIM:620481 |
Spherocytosis, Type 2 |
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Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia |
OMIM:616649 |
Brucellosis |
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Granuloma, Failure to thrive, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Anemia, Weig... |
ORPHA:1304 |
Syndromic Diarrhea |
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Lymphopenia, Splenomegaly, Inguinal hernia, Hypoplasia of the thymus, Thrombocytosis, Abnormality... |
ORPHA:84064 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Hypochromic anemia, Failure to thrive, Leukocytosis, Perianal abscess, Thrombocytosis |
OMIM:618213 |
Juvenile Temporal Arteritis |
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Eosinophilia, Leukocytosis |
ORPHA:26137 |
Apparent Mineralocorticoid Excess |
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Hypokalemia, Small for gestational age, Failure to thrive, Decreased circulating renin level |
OMIM:218030 |
Elliptocytosis 2 |
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Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis |
OMIM:130600 |
Thrombocytopenia 2 |
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Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Cogan Syndrome |
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Anemia, Leukocytosis, Thrombocytosis |
ORPHA:1467 |
Relapsing Fever |
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Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi... |
ORPHA:91547 |
Idiopathic Hypereosinophilic Syndrome |
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Failure to thrive, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Eosinophilia, ... |
ORPHA:3260 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Failure to thrive in infancy, Leukocytosis, Increased proportion of CD4-positive T cells, Lipodys... |
OMIM:617099 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
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Decreased circulating renin level |
OMIM:605115 |
Spherocytosis, Type 1 |
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Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia |
OMIM:182900 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
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Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis |
OMIM:266120 |
Diamond-Blackfan Anemia 1 |
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Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Elevated red c... |
OMIM:105650 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
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Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... |
OMIM:300539 |
Refractory Anemia With Excess Blasts |
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Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula... |
ORPHA:86839 |
Liddle Syndrome 2 |
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Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
Liddle Syndrome 3 |
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Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
Eosinophilic Gastroenteritis |
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Hypoalbuminemia, Leukocytosis, Eosinophilia, Anemia, Weight loss, Elevated circulating C-reactive... |
ORPHA:2070 |
Kawasaki Disease |
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Elevated circulating C-reactive protein concentration, Thrombocytosis, Leukocytosis, Hypoalbuminemia |
ORPHA:2331 |
Hyperaldosteronism, Familial, Type I |
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Decreased circulating renin level |
OMIM:103900 |
Liddle Syndrome 1 |
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Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
Pseudohypoaldosteronism, Type Iic |
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Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
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Intraalveolar phospholipid accumulation, Splenomegaly, Leukocytosis |
OMIM:618042 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
Anal Fistula |
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Cellulitis, Leukocytosis |
ORPHA:228113 |
Tafro Syndrome |
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Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Thrombocytopenia, Elevated circulating C-... |
ORPHA:457077 |
Hereditary Chronic Pancreatitis |
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Elevated circulating C-reactive protein concentration, Leukocytosis |
ORPHA:676 |
Hyperaldosteronism, Familial, Type Iii |
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Hypokalemia, Decreased circulating renin level |
OMIM:613677 |
Apparent Mineralocorticoid Excess |
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Hypokalemia, Failure to thrive, Decreased circulating renin level |
ORPHA:320 |
Leukocyte Adhesion Deficiency |
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Abnormality of neutrophil physiology, Polycythemia, Impaired platelet aggregation, Leukocytosis, ... |
ORPHA:2968 |
Ectopic Aldosterone-Producing Tumor |
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Hypokalemia, Decreased circulating renin level |
ORPHA:231632 |
Primary Unilateral Adrenal Hyperplasia |
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Hypokalemia, Decreased circulating renin level |
ORPHA:231580 |
Doors Syndrome |
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Thrombocytosis |
ORPHA:79500 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
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Hypokalemia, Decreased circulating renin level |
ORPHA:231625 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
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Hypokalemia, Decreased circulating renin level |
OMIM:615474 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Hypokalemia, Failure to thrive, Decreased circulating renin level |
ORPHA:90793 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
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Hypokalemia, Decreased circulating renin level |
ORPHA:90795 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Hypokalemia, Decreased circulating renin level |
OMIM:202010 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Joint contracture of the hand, Decreased circulating renin level, Hyponatremia, Camptodactyly, Hy... |
OMIM:201750 |