Histiocytosis, Progressive Mucinous |
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Mucinous histiocytosis |
OMIM:142630 |
Neutropenia-Monocytopenia-Deafness Syndrome |
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Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
Histiocytosis, Familial Lipochrome |
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Increased alpha-globulin, Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Undritz Anomaly |
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Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Benign Cephalic Histiocytosis |
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Histiocytosis |
ORPHA:157997 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
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Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,... |
OMIM:608898 |
Papular Xanthoma |
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Histiocytosis |
ORPHA:158008 |
X-Linked Severe Congenital Neutropenia |
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Monocytopenia, Neutropenia |
ORPHA:86788 |
Lymphoproliferative Syndrome, X-Linked, 2 |
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Pancytopenia, Hypertriglyceridemia, Acne, Recurrent skin infections, Aplastic anemia, Erythema no... |
OMIM:300635 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
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Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Abnormal natura... |
OMIM:613101 |
Gaisböck Syndrome |
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Hypertriglyceridemia, Angina pectoris, Diabetes mellitus, Myocardial infarction, Splenomegaly, Hy... |
ORPHA:90041 |
Marburg Hemorrhagic Fever |
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Elevated circulating creatine kinase concentration, Uveitis, Leukopenia, Hypoalbuminemia, Abnorma... |
ORPHA:99826 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactive protein conc... |
OMIM:308240 |
Immunodeficiency 11A |
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Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
Colchicine Poisoning |
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Hyponatremia, Myocarditis, Congestive heart failure, Leukocytosis, Hypovolemia, Abnormal blood io... |
ORPHA:31824 |
Ataxia-Pancytopenia Syndrome |
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Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Immunodeficiency 97 With Autoinflammation |
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Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Immunodeficiency 27A |
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Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Incre... |
OMIM:209950 |
Familial Hypoaldosteronism |
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Hyponatremia, Orthostatic hypotension, Hyperkalemia, Hypovolemia, Increased circulating renin lev... |
ORPHA:427 |
Cocaine Intoxication |
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Prolonged QT interval, Tachycardia, Prolonged QRS complex, Glomerulonephritis, Myocardial infarct... |
ORPHA:90068 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
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Autoimmune hemolytic anemia, Splenomegaly, Neutropenia, Type I diabetes mellitus, Bone marrow hyp... |
OMIM:301078 |
Acute Adrenal Insufficiency |
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Hyponatremia, Normocytic anemia, Orthostatic hypotension, Hypoglycemia, Hypercalcemia, Myocardial... |
ORPHA:95409 |
Leishmaniasis |
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Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Leukopenia, Rhiniti... |
ORPHA:507 |
Lysosomal Acid Lipase Deficiency |
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Hyponatremia, Hypertriglyceridemia, Hypercholesterolemia, Bone-marrow foam cells, Hypersplenism, ... |
ORPHA:275761 |
Nephrogenic Diabetes Insipidus |
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Hypernatremia, Hypovolemia |
ORPHA:223 |
Juvenile Nephropathic Cystinosis |
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Hyponatremia, Hypouricemia, Hypovolemia, Elevated circulating creatinine concentration, Glycosuri... |
ORPHA:411634 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Patent ductus arteriosu... |
ORPHA:91387 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Hyponatremia, Hyperkalemia, Hypovolemia, Abnormal circulating cholesterol concentration, Increase... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Hyponatremia, Hyperkalemia, Hypovolemia, Abnormal circulating cholesterol concentration, Increase... |
ORPHA:289548 |
Microvillus Inclusion Disease |
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Hypovolemia |
ORPHA:2290 |
Ovarian Hyperstimulation Syndrome |
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Hypovolemia, Capillary leak |
ORPHA:64739 |
Isolated Permanent Neonatal Diabetes Mellitus |
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Neonatal insulin-dependent diabetes mellitus, Hyperglycemia, Hypovolemia, Glycosuria |
ORPHA:99885 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Shock, Hyponatremia, Acne, Hypovolemia, Hyperkalemia, Hypochloremia, Hypotension, Neonatal hypogl... |
ORPHA:90794 |
Proximal Renal Tubular Acidosis |
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Hypokalemia, Hypovolemia, Bicarbonaturia, Glycosuria |
ORPHA:47159 |
Fanconi Anemia, Complementation Group C |
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Prolonged G2 phase of cell cycle, Bone marrow hypocellularity |
OMIM:227645 |
Fanconi Anemia, Complementation Group D2 |
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Patent ductus arteriosus, Prolonged G2 phase of cell cycle, Bone marrow hypocellularity |
OMIM:227646 |
Fanconi Anemia, Complementation Group E |
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Prolonged G2 phase of cell cycle |
OMIM:600901 |
Fanconi Anemia, Complementation Group A |
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Prolonged G2 phase of cell cycle |
OMIM:227650 |
Nasu-Hakola Disease |
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Acute leukemia |
ORPHA:2770 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
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OMIM:618193 |
Behavioral Variant Of Frontotemporal Dementia |
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ORPHA:275864 |
Progressive Non-Fluent Aphasia |
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ORPHA:100070 |
Semantic Dementia |
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ORPHA:100069 |
Early-Onset Autosomal Dominant Alzheimer Disease |
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ORPHA:1020 |
Amyotrophic Lateral Sclerosis |
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ORPHA:803 |