Hemoglobin E-Beta-Thalassemia Syndrome |
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Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration |
ORPHA:231249 |
Hemoglobin D Disease |
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Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
Hemoglobin-Delta locus |
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Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... |
OMIM:603902 |
Hemoglobin H Disease |
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Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Thalassemia, Beta+, Silent Allele |
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Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
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Persistence of hemoglobin F |
OMIM:141749 |
Hemoglobin E Disease |
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Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
Delta-Beta-Thalassemia |
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Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Hemoglobin C-Beta-Thalassemia Syndrome |
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Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Acetophenetidin Sensitivity |
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Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
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Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
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Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Renal Failure, Progressive, With Hypertension |
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Elevated circulating creatinine concentration |
OMIM:161900 |
Methemoglobinemia, Beta Type |
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Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
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Methemoglobinemia |
OMIM:617973 |
Congenital Amegakaryocytic Thrombocytopenia |
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Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
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Anemia, Elevated circulating creatinine concentration, Hyperuricemia, Neutropenia |
OMIM:617056 |
Alpha-Thalassemia Myelodysplasia Syndrome |
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Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
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Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612924 |
Combined Oxidative Phosphorylation Deficiency 34 |
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Elevated circulating creatinine concentration, Pancytopenia, Increased blood urea nitrogen |
OMIM:617872 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
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Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
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Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
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Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612926 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
Cyanosis, Transient Neonatal |
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Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
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Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... |
OMIM:612925 |
Thrombotic Thrombocytopenic Purpura |
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Decreased serum creatinine, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia |
ORPHA:54057 |
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment |
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Elevated circulating creatinine concentration |
OMIM:242530 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
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Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
Sickle Cell Anemia |
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Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
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Lymphopenia, Leukopenia, Elevated circulating creatinine concentration, Long eyelashes, Reduced h... |
OMIM:301110 |
Diamond-Blackfan Anemia 3 |
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Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
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Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... |
OMIM:300539 |
Relapsing Fever |
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Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi... |
ORPHA:91547 |
Osteopetrosis, Autosomal Recessive 9 |
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Anemia, Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
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Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
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Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,... |
OMIM:235400 |
Coenzyme Q10 Deficiency, Primary, 8 |
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Elevated circulating creatinine concentration, Flexion contracture |
OMIM:616733 |
C3 Glomerulopathy |
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Elevated circulating creatinine concentration, Lipodystrophy |
ORPHA:329918 |
Congenital Disorder Of Glycosylation, Type Ih |
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Hypoalbuminemia, Elevated circulating creatinine concentration, Camptodactyly, Thrombocytopenia, ... |
OMIM:608104 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis... |
OMIM:274150 |
Nephronophthisis-Like Nephropathy 2 |
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Elevated circulating creatinine concentration |
OMIM:619468 |
Interstitial Nephritis, Karyomegalic |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Idiopathic Non-Lupus Full-House Nephropathy |
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Elevated circulating creatinine concentration |
ORPHA:567544 |
Beta-Thalassemia |
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Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormality of ir... |
ORPHA:848 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
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Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:300946 |
Beta-Thalassemia |
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Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
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Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Renal Tubular Acidosis, Distal, 1 |
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Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Cystinosis, Adult Nonnephropathic |
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Elevated circulating creatinine concentration |
OMIM:219750 |
Diffuse Alveolar Hemorrhage |
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Anemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia |
ORPHA:90060 |
Cerebral Creatine Deficiency Syndrome 2 |
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Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine |
OMIM:612736 |
Alpha-Thalassemia |
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Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... |
ORPHA:846 |
Coach Syndrome 2 |
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Elevated circulating creatinine concentration |
OMIM:619111 |
Renal Tubular Acidosis, Proximal |
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Elevated circulating creatinine concentration |
OMIM:179830 |
Fanconi Renotubular Syndrome 3 |
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Aminoaciduria, Elevated circulating creatinine concentration |
OMIM:615605 |
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 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
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Elevated circulating creatinine concentration, Inguinal hernia, Supernumerary nipple |
OMIM:614376 |
Adenine Phosphoribosyltransferase Deficiency |
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Elevated circulating creatinine concentration |
OMIM:614723 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
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Decreased serum creatinine |
ORPHA:289601 |
Preeclampsia |
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Elevated circulating creatinine concentration, Thrombocytopenia |
ORPHA:275555 |
Hypouricemia, Renal, 1 |
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Hypouricemia, Elevated circulating creatinine concentration |
OMIM:220150 |
Acute Interstitial Pneumonia |
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Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:79126 |
Bone Marrow Failure Syndrome 6 |
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Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Increased total bilirubin, Elbow flexion contracture, Elevated circulating creatinine concentrati... |
OMIM:608836 |
Senior-Loken Syndrome 1 |
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Anemia, Elevated circulating creatinine concentration |
OMIM:266900 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
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Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei... |
OMIM:613095 |
Trichothiodystrophy 6, Nonphotosensitive |
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Tiger tail banding, Slow-growing hair, Brittle hair, Increased HbA2 hemoglobin, Decreased mean co... |
OMIM:616943 |
Cryoglobulinemia, Familial Mixed |
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Elevated circulating creatinine concentration |
OMIM:123550 |
Nephronophthisis 2 |
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Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Congenital Disorder Of Glycosylation, Type Iit |
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Decreased serum creatinine, Iron deficiency anemia, Hypotriglyceridemia, Decreased HDL cholestero... |
OMIM:618885 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R... |
ORPHA:90038 |
Bacterial Toxic-Shock Syndrome |
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Hypoalbuminemia, Cellulitis, Fasciitis, Elevated circulating creatinine concentration, Hypocalcem... |
ORPHA:36234 |
Hb Bart'S Hydrops Fetalis |
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Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
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Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Anemia, Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:174000 |
Primary Familial Polycythemia |
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Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Dopamine Beta-Hydroxylase Deficiency |
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Anemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
ORPHA:230 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Elevated circulating creatinine concentration, Hepatosplenomegaly, Decreased circulating apolipop... |
ORPHA:85450 |
Beta-Thalassemia Intermedia |
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Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... |
ORPHA:231222 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Normocytic anemia, Elevated circulating creatinine concentration, Normochromic anemia |
ORPHA:247691 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Multiple Myeloma |
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Elevated circulating creatinine concentration, Splenomegaly, Anemia, Hyperproteinemia, Hypercalcemia |
ORPHA:29073 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
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Microcytic anemia, Flexion contracture, HbH hemoglobin, Aplasia/Hypoplasia of the eyebrow |
ORPHA:98791 |
46,Xy Sex Reversal 4 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
Aapoaiv Amyloidosis |
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Elevated circulating creatinine concentration, Hyperlipidemia |
ORPHA:439232 |
Ziegler-Huang Syndrome |
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Neutropenia, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:620501 |
Dominant Beta-Thalassemia |
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Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231226 |
Igg4-Related Retroperitoneal Fibrosis |
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Normocytic anemia, Elevated circulating creatinine concentration, Elevated circulating C-reactive... |
ORPHA:49041 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Beta-Thalassemia Major |
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Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231214 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
Bone Marrow Failure Syndrome 3 |
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Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ap... |
OMIM:617052 |
Juvenile Nephropathic Cystinosis |
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Hypouricemia, Aminoaciduria, Elevated circulating creatinine concentration, Hypocalcemic tetany, ... |
ORPHA:411634 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Marburg Hemorrhagic Fever |
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Neutrophilia in presence of infection, Hypoalbuminemia, Lymphopenia, Abnormal lymphocyte morpholo... |
ORPHA:99826 |
Oligomeganephronia |
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Elevated circulating creatinine concentration, Congenital diaphragmatic hernia |
ORPHA:2260 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Hiatus hernia, Umbilical hernia, Persistence of hemoglobin F |
OMIM:619769 |
Papillorenal Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:120330 |
Hemorrhagic Fever-Renal Syndrome |
|
Hyperphosphatemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia,... |
ORPHA:340 |
Lead Poisoning |
|
Imbalanced hemoglobin synthesis, Increased LDL cholesterol concentration, Abnormal T cell morphol... |
ORPHA:330015 |
Hypomagnesemia 3, Renal |
|
Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi... |
OMIM:248250 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:617478 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Aminoaciduria, Chorioretinal scar, Elevated circulating creatinine concentrati... |
ORPHA:91500 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
Yellow Fever |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia, Leukocytosis, Elevated circula... |
ORPHA:99829 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:260400 |
Thymoma |
|
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:449395 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Flexion contracture, Abnormal hemoglobin |
ORPHA:847 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia, Umbilical hernia |
OMIM:301040 |
Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
Pauci-Immune Glomerulonephritis |
|
Elevated circulating creatinine concentration |
ORPHA:93126 |
Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:105650 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... |
OMIM:619534 |
Alkaptonuria |
|
Aminoaciduria, Methemoglobinemia, Hemolytic anemia |
ORPHA:56 |