Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
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Hyperleucinemia, Hyperammonemia, Polyphagia, Hypervalinemia, Increased blood urea nitrogen, Hyper... |
OMIM:620085 |
Pentosuria |
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Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration |
ORPHA:2843 |
Renal Failure, Progressive, With Hypertension |
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Elevated circulating creatinine concentration |
OMIM:161900 |
Combined Oxidative Phosphorylation Deficiency 34 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:617872 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
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Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... |
OMIM:300539 |
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment |
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Elevated circulating creatinine concentration |
OMIM:242530 |
Interstitial Nephritis, Karyomegalic |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:614817 |
Nephronophthisis-Like Nephropathy 2 |
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Elevated circulating creatinine concentration, Polydipsia |
OMIM:619468 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
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Hypoargininemia, Hyperammonemia, Aminoaciduria, Episodic ammonia intoxication |
ORPHA:147 |
Lesch-Nyhan Phenotype With Normal Hgprt |
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Hyperuricemia, Self-mutilation |
OMIM:308950 |
Cystinosis, Adult Nonnephropathic |
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Elevated circulating creatinine concentration |
OMIM:219750 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612926 |
Cerebral Creatine Deficiency Syndrome 2 |
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Elevated circulating guanidinoacetic acid concentration, Aggressive behavior, Decreased serum cre... |
OMIM:612736 |
Drug-Induced Lupus Erythematosus |
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Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... |
ORPHA:231111 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:612925 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
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Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia |
OMIM:617744 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
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Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:617056 |
Lactic Acidosis, Chronic Adult Form |
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Hyperuricemia |
OMIM:150170 |
Renal Tubular Acidosis, Proximal |
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Elevated circulating creatinine concentration |
OMIM:179830 |
Renal Tubular Acidosis, Distal, 1 |
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Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Idiopathic Non-Lupus Full-House Nephropathy |
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Elevated circulating creatinine concentration |
ORPHA:567544 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
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Decreased serum creatinine |
ORPHA:289601 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
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Decreased circulating renin level |
OMIM:605115 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
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Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia |
OMIM:613845 |
Fanconi Renotubular Syndrome 3 |
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Aminoaciduria, Elevated circulating creatinine concentration |
OMIM:615605 |
Adenine Phosphoribosyltransferase Deficiency |
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Elevated circulating creatinine concentration |
OMIM:614723 |
Coenzyme Q10 Deficiency, Primary, 8 |
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Elevated circulating creatinine concentration |
OMIM:616733 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
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Hypouricemia |
OMIM:307830 |
Coach Syndrome 2 |
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Elevated circulating creatinine concentration |
OMIM:619111 |
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 |
Uremic Pruritus |
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Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Polyphagia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:251004 |
Orthostatic Hypotension 1 |
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Elevated circulating dihydroxyphenylacetic acid concentration, Increased blood urea nitrogen, Hyp... |
OMIM:223360 |
Cryoglobulinemia, Familial Mixed |
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Elevated circulating creatinine concentration |
OMIM:123550 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Elevated circulating creatinine concentration, Hyperlipidemia, Increased blood urea nitrogen |
OMIM:235400 |
Hypouricemia, Renal, 1 |
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Hypouricemia, Elevated circulating creatinine concentration |
OMIM:220150 |
Osteopetrosis, Autosomal Recessive 9 |
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Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:620366 |
Hereditary Renal Hypouricemia |
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Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:274150 |
Histidinemia |
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Histidinuria, Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
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 |
46,Xy Sex Reversal 4 |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:154230 |
C3 Glomerulopathy |
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Elevated circulating creatinine concentration |
ORPHA:329918 |
Senior-Loken Syndrome 1 |
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Elevated circulating creatinine concentration, Polydipsia |
OMIM:266900 |
Thrombotic Thrombocytopenic Purpura |
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Decreased serum creatinine |
ORPHA:54057 |
Hyperaldosteronism, Familial, Type Iii |
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Hypokalemia, Polydipsia, Decreased circulating renin level |
OMIM:613677 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
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Elevated circulating creatinine concentration, Hyperuricemia |
ORPHA:79233 |
Hypouricemia, Renal, 2 |
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Hypouricemia |
OMIM:612076 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:223900 |
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 |
Liddle Syndrome 1 |
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Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
Nephronophthisis 2 |
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Elevated circulating creatinine concentration, Hyperkalemia |
OMIM:602088 |
Hyperaldosteronism, Familial, Type I |
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Decreased circulating renin level |
OMIM:103900 |
Congenital Disorder Of Glycosylation, Type Ih |
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Hypoalbuminemia, Elevated circulating creatinine concentration |
OMIM:608104 |
Dopamine Beta-Hydroxylase Deficiency |
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Elevated circulating creatinine concentration, Increased blood urea nitrogen |
ORPHA:230 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
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Hypouricemia |
OMIM:242050 |
Relapsing Fever |
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Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:91547 |
Igg4-Related Retroperitoneal Fibrosis |
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Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:49041 |
Pseudohypoaldosteronism, Type Iic |
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Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Preeclampsia |
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Elevated circulating creatinine concentration |
ORPHA:275555 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
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Elevated circulating creatinine concentration |
OMIM:614376 |
Diffuse Alveolar Hemorrhage |
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Elevated circulating creatinine concentration |
ORPHA:90060 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Increased total bilirubin, Elevated circulating creatinine concentration, Decreased plasma free c... |
OMIM:608836 |
Apparent Mineralocorticoid Excess |
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Hypokalemia, Decreased circulating renin level |
OMIM:218030 |
Acute Interstitial Pneumonia |
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Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration |
ORPHA:79126 |
Primary Unilateral Adrenal Hyperplasia |
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Hypokalemia, Polydipsia, Decreased circulating renin level |
ORPHA:231580 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Cockayne Syndrome Type 1 |
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Increased blood urea nitrogen |
ORPHA:90321 |
Congenital Disorder Of Glycosylation, Type Iit |
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Decreased serum creatinine, Hypotriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:618885 |
Juvenile Nephropathic Cystinosis |
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Hypouricemia, Aminoaciduria, Polydipsia, Elevated circulating creatinine concentration, Hypocalce... |
ORPHA:411634 |
Apparent Mineralocorticoid Excess |
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Hypokalemia, Polydipsia, Decreased circulating renin level |
ORPHA:320 |
Aapoaiv Amyloidosis |
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Elevated circulating creatinine concentration, Hyperlipidemia |
ORPHA:439232 |
Histidinemia |
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Histidinuria, Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia |
OMIM:235800 |
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
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Elevated circulating creatinine concentration, Reduced haptoglobin level |
OMIM:301110 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
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Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:174000 |
Oligomeganephronia |
|
Elevated circulating creatinine concentration, Polydipsia |
ORPHA:2260 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Elevated circulating creatinine concentration, Decreased circulating apolipoprotein A-I concentra... |
ORPHA:85450 |
Bacterial Toxic-Shock Syndrome |
|
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... |
ORPHA:36234 |
Ectopic Aldosterone-Producing Tumor |
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Hypokalemia, Decreased circulating renin level |
ORPHA:231632 |
Paroxysmal Nocturnal Hemoglobinuria |
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Decreased circulating iron concentration, Reduced haptoglobin level, Increased blood urea nitroge... |
ORPHA:447 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Elevated circulating creatinine concentration |
ORPHA:247691 |
Multiple Myeloma |
|
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia |
ORPHA:29073 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Hypokalemia, Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration, Hypo... |
ORPHA:90038 |
Papillorenal Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:120330 |
Autosomal Dominant Polycystic Kidney Disease |
|
Elevated circulating creatinine concentration |
ORPHA:730 |
Marburg Hemorrhagic Fever |
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Hypoalbuminemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hyperammonemia, ... |
ORPHA:99826 |
Hypomagnesemia 3, Renal |
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Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Polydipsia, H... |
OMIM:248250 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Elevated circulating creatinine concentration |
OMIM:617478 |
Sickle Cell Anemia |
|
Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration |
ORPHA:232 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
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Hypokalemia, Decreased circulating renin level |
ORPHA:231625 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration |
ORPHA:97292 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
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Hypokalemia, Decreased circulating renin level |
OMIM:615474 |
Hemorrhagic Fever-Renal Syndrome |
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Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia, Agitation |
ORPHA:340 |
Renal Cysts And Diabetes Syndrome |
|
Elevated circulating creatinine concentration, Hyperuricemia |
OMIM:137920 |
Pauci-Immune Glomerulonephritis |
|
Elevated circulating creatinine concentration |
ORPHA:93126 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:449395 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:91500 |
Goodpasture Syndrome |
|
Increased blood urea nitrogen |
OMIM:233450 |
Yellow Fever |
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Elevated circulating creatinine concentration, Hyperbilirubinemia, Elevated circulating creatine ... |
ORPHA:99829 |
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 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:202010 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypokalemia, Decreased circulating renin level |
ORPHA:90793 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... |
OMIM:619534 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Hyponatremia, Hyperkalemia, Decreased circulating renin level |
OMIM:201750 |