Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
Thrombocythemia 1 |
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Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Asplenia, Isolated Congenital |
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Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Immunodeficiency 69 |
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Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... |
OMIM:618963 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Juvenile Arthritis |
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Thrombocytosis, Leukocytosis |
OMIM:618795 |
Dehydrated Hereditary Stomatocytosis 2 |
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Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Polycythemia Vera |
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Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Sickle Cell Anemia |
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Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
Acquired Idiopathic Sideroblastic Anemia |
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Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Chronic Myeloid Leukemia |
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Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
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Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
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Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatospl... |
OMIM:604416 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
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Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo... |
OMIM:617780 |
Immunodeficiency 27A |
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Splenomegaly, Leukocytosis, Hepatosplenomegaly, Hypoalbuminemia, Thrombocytosis, Anemia, Histiocy... |
OMIM:209950 |
Immunodeficiency 14B, Autosomal Recessive |
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Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Renal Failure, Progressive, With Hypertension |
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Elevated circulating creatinine concentration |
OMIM:161900 |
Heme Oxygenase 1 Deficiency |
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Hemolytic anemia, Elevated circulating C-reactive protein concentration, Asplenia, Increased circ... |
OMIM:614034 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
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Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612924 |
Primary Myelofibrosis |
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Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos... |
ORPHA:824 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
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Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
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Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
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Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612926 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
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Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia |
OMIM:617056 |
Combined Oxidative Phosphorylation Deficiency 34 |
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Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
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Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... |
OMIM:612925 |
Thrombotic Thrombocytopenic Purpura |
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Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
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Elevated circulating creatinine concentration |
OMIM:242530 |
Preeclampsia |
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Elevated circulating creatinine concentration, Thrombocytopenia |
ORPHA:275555 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
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Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia |
OMIM:226300 |
Thrombocytopenia 4 |
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Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Immunodeficiency 92 |
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Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
Sting-Associated Vasculopathy, Infantile-Onset |
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Elevated circulating C-reactive protein concentration, Leukopenia, Thrombocytosis, Lymphopenia, A... |
OMIM:615934 |
Relapsing Fever |
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Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... |
ORPHA:91547 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
Bleeding Disorder, Platelet-Type, 15 |
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Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Beta-Ketothiolase Deficiency |
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Thrombocytosis, Leukocytosis, Hyperuricemia, Hyperammonemia |
ORPHA:134 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ... |
OMIM:274150 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
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Hyponatremia, Decreased circulating renin level, Reduced blood urea nitrogen, Decreased serum cre... |
OMIM:300539 |
Osteopetrosis, Autosomal Recessive 9 |
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Elevated circulating creatinine concentration, Hyperkalemia, Anemia |
OMIM:620366 |
Interstitial Nephritis, Karyomegalic |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
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Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Cystinosis, Adult Nonnephropathic |
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Elevated circulating creatinine concentration |
OMIM:219750 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Leukocytosis, Hyperammonemia, Leukopenia, Hyperuricemia, Thrombocytosis, Anemia |
ORPHA:20 |
Neuroleptic Malignant Syndrome |
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Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp... |
ORPHA:94093 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
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Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
Interstitial Lung And Liver Disease |
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Anemia, Thrombocytosis, Aminoaciduria, Hyperammonemia |
OMIM:615486 |
Nephronophthisis-Like Nephropathy 2 |
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Elevated circulating creatinine concentration |
OMIM:619468 |
Renal Tubular Acidosis, Distal, 1 |
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Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Celiac Disease, Susceptibility To, 1 |
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Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Hypocalcemia |
OMIM:212750 |
Idiopathic Non-Lupus Full-House Nephropathy |
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Elevated circulating creatinine concentration |
ORPHA:567544 |
Fanconi Renotubular Syndrome 3 |
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Aminoaciduria, Elevated circulating creatinine concentration |
OMIM:615605 |
Congenital Disorder Of Glycosylation, Type Ih |
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Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia |
OMIM:608104 |
Autoerythrocyte Sensitization Syndrome |
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Abnormal erythrocyte morphology, Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocy... |
ORPHA:324636 |
Diffuse Alveolar Hemorrhage |
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Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia |
ORPHA:90060 |
Coenzyme Q10 Deficiency, Primary, 8 |
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Elevated circulating creatinine concentration |
OMIM:616733 |
Cerebral Creatine Deficiency Syndrome 2 |
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Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Elevated circulating C-reactive protein concentration, Iron deficiency anemia, Lymphocytosis, Thr... |
OMIM:301074 |
Coach Syndrome 2 |
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Elevated circulating creatinine concentration |
OMIM:619111 |
Familial Thrombocytosis |
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Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly |
ORPHA:71493 |
Congenital Disorder Of Glycosylation, Type Ia |
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Thrombocytosis, Hypoalbuminemia, Hypocholesterolemia |
OMIM:212065 |
Elliptocytosis 2 |
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Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis |
OMIM:130600 |
Trichohepatoenteric Syndrome 1 |
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Increased mean platelet volume, Splenomegaly, Increased serum iron, Hypoalbuminemia, Hypermethion... |
OMIM:222470 |
Diamond-Blackfan Anemia |
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Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... |
OMIM:615688 |
Adenine Phosphoribosyltransferase Deficiency |
|
Elevated circulating creatinine concentration |
OMIM:614723 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
Erythrocytosis, Familial, 6 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Poems Syndrome |
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Thrombocytosis, Polycythemia |
ORPHA:2905 |
C3 Glomerulopathy |
|
Elevated circulating creatinine concentration |
ORPHA:329918 |
Hypouricemia, Renal, 1 |
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Elevated circulating creatinine concentration, Hypouricemia |
OMIM:220150 |
Cogan Syndrome |
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Thrombocytosis, Leukocytosis, Anemia |
ORPHA:1467 |
Syndromic Diarrhea |
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Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Abnormality of iron homeo... |
ORPHA:84064 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
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Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration |
OMIM:620138 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... |
ORPHA:90038 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye... |
ORPHA:3260 |
Nephronophthisis 2 |
|
Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Diamond-Blackfan Anemia 1 |
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Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Cryoglobulinemia, Familial Mixed |
|
Elevated circulating creatinine concentration |
OMIM:123550 |
Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... |
ORPHA:79126 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
Brucellosis |
|
Elevated circulating C-reactive protein concentration, Hypersplenism, Thrombocytopenia, Leukocyto... |
ORPHA:1304 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Senior-Loken Syndrome 1 |
|
Elevated circulating creatinine concentration, Anemia |
OMIM:266900 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Thrombocytosis, Leukocytosis, Hypochromic anemia |
OMIM:618213 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased serum creatinine, Decreased HDL cholesterol concentration, Iron deficiency anemia, Hypo... |
OMIM:618885 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... |
OMIM:608836 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration |
OMIM:614376 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration... |
ORPHA:36234 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Elevated circulating creatinine concentration, Hyperuricemia, Anemia |
OMIM:174000 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen |
ORPHA:230 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Normochromic anemia, Elevated circulating creatinine concentration |
ORPHA:247691 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Hyperproteinemia, Anemia |
ORPHA:29073 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Aminoaciduria, Hypokal... |
ORPHA:411634 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Elevated circulating creatinine concentration, Elevated circulating C-reactive... |
ORPHA:49041 |
Marburg Hemorrhagic Fever |
|
Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia... |
ORPHA:99826 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Leukocytosis, Abnormality of neutrophil physiology, Impaired neutrophil c... |
ORPHA:2968 |
Hemorrhagic Fever-Renal Syndrome |
|
Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating creatinine concentration, Hype... |
ORPHA:340 |
Doors Syndrome |
|
Thrombocytosis |
ORPHA:79500 |
Papillorenal Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:120330 |
Oligomeganephronia |
|
Elevated circulating creatinine concentration |
ORPHA:2260 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
Yellow Fever |
|
Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat... |
ORPHA:99829 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:617478 |
Pauci-Immune Glomerulonephritis |
|
Granulomatosis, Elevated circulating creatinine concentration |
ORPHA:93126 |
Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... |
ORPHA:91500 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Elevated circulating creatinine concentration, Decreased retinol-binding protein le... |
ORPHA:449395 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Elevat... |
OMIM:619534 |
Blood Group, Cromer System |
|
|
OMIM:613793 |