Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
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Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... |
OMIM:613090 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
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Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom... |
OMIM:162000 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
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Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Bartter Syndrome, Type 3 |
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Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
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Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate |
OMIM:242530 |
Hereditary Renal Hypouricemia |
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Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... |
ORPHA:94088 |
Lcat Deficiency |
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Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Hypocalcemia, Autosomal Dominant 1 |
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Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... |
OMIM:601198 |
Bartter Syndrome, Type 1, Antenatal |
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Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Hypercalcemia, Renal salt wasting, ... |
OMIM:601678 |
Fanconi Renotubular Syndrome 2 |
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Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re... |
OMIM:613388 |
Primary Hyperoxaluria Type 1 |
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Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
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Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Renal Hypoplasia, Bilateral |
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Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, ... |
ORPHA:97362 |
Hypercalcemia, Infantile, 2 |
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Failure to thrive, Hypercalcemia, Polyuria, Hypercalciuria, Renal phosphate wasting, Nephrocalcin... |
OMIM:616963 |
Bartter Syndrome, Type 2, Antenatal |
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Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Small for gestational age, Renal sa... |
OMIM:241200 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
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Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Orthostatic Hypotension 2 |
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Decreased glomerular filtration rate |
OMIM:618182 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
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Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos... |
OMIM:308990 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
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Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Autosomal Dominant Polycystic Kidney Disease |
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Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
Idiopathic Hypercalciuria |
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Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith... |
ORPHA:2197 |
Oligomeganephronia |
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Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ... |
ORPHA:2260 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Medullary Sponge Kidney |
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Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
Distal Renal Tubular Acidosis |
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Hyperphosphaturia, Failure to thrive, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria... |
ORPHA:18 |
Hypercalciuria, Absorptive, 2 |
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Hypercalciuria, Calcium oxalate nephrolithiasis |
OMIM:143870 |
Hypercalcemia, Infantile, 1 |
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Failure to thrive, Hypercalcemia, Polyuria, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc... |
OMIM:143880 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
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Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial nephritis, ... |
ORPHA:488627 |
Lipoid Congenital Adrenal Hyperplasia |
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Hypospadias, Renal salt wasting |
OMIM:201710 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
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Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Failure to thrive |
OMIM:239199 |
Pauci-Immune Glomerulonephritis |
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Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
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Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... |
ORPHA:564178 |
Dent Disease 2 |
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Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Nephr... |
OMIM:300555 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
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Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia |
OMIM:612286 |
Lysinuric Protein Intolerance |
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Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ... |
ORPHA:470 |
Hypomagnesemia 2, Renal |
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Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia |
OMIM:154020 |
Corticosterone Methyloxidase Type Ii Deficiency |
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Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Failure to thrive |
OMIM:610600 |
Hypomagnesemia 3, Renal |
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Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... |
OMIM:248250 |
Corticosterone Methyloxidase Type I Deficiency |
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Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Failure to thrive |
OMIM:203400 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
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Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia |
OMIM:612287 |
Glycogen Storage Disease Ia |
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Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Hyperuricemia, ... |
OMIM:232200 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
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Hypercalciuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Failure to thrive |
OMIM:602722 |
Fanconi Renotubular Syndrome 1 |
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Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Hemorrhagic Fever-Renal Syndrome |
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Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Elevated circulating creatinine ... |
ORPHA:340 |
Congenital Megacalycosis |
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Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
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Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... |
OMIM:618314 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
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Medullary nephrocalcinosis, Hypercalciuria |
OMIM:617993 |
Glycogen Storage Disease Ib |
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Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Hyperuricemia, ... |
OMIM:232220 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
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Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... |
OMIM:248190 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
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Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... |
OMIM:300539 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
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Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ... |
OMIM:613845 |
Primary Fanconi Renotubular Syndrome |
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Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
Bartter Syndrome, Type 5, Antenatal, Transient |
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Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
Primary Hyperoxaluria Type 3 |
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Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Alkaptonuria |
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Elevated urinary homogentisic acid, Nephrolithiasis, Decreased glomerular filtration rate |
OMIM:203500 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
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Hyponatremia, Failure to thrive, Hyperkalemia, Renal salt wasting |
OMIM:264350 |
Glycogen Storage Disease Ic |
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Renal insufficiency, Proteinuria, Hyperlipidemia, Hematuria, Focal segmental glomerulosclerosis, ... |
OMIM:232240 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
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Hypouricemia, Hypercalciuria |
OMIM:242050 |
Hypokalemic Tubulopathy And Deafness |
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Increased circulating renin level, Renal salt wasting |
OMIM:619406 |
Apparent Mineralocorticoid Excess |
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Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Renal so... |
ORPHA:320 |
Dent Disease 1 |
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Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
Juvenile Nephropathic Cystinosis |
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Hyponatremia, Renal insufficiency, Failure to thrive, Hypouricemia, Proteinuria, Chronic kidney d... |
ORPHA:411634 |
Familial Isolated Hyperparathyroidism |
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Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos... |
ORPHA:99879 |
Fanconi Renotubular Syndrome 3 |
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Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
Dent Disease |
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Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... |
ORPHA:1652 |
Hyperoxaluria, Primary, Type Ii |
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Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
Bartter Syndrome Type 4 |
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Hyponatremia, Failure to thrive, Small for gestational age, Renal salt wasting, Increased urinary... |
ORPHA:89938 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
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Hyponatremia, Failure to thrive, Hyperkalemia, Renal salt wasting |
OMIM:614736 |
Primary Hyperoxaluria Type 2 |
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Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:91500 |
East Syndrome |
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Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circulating renin l... |
ORPHA:199343 |
Late-Onset Familial Hypoaldosteronism |
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Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal sodium wasting, Failure to t... |
ORPHA:556037 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
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Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures |
ORPHA:2239 |
Familial Hypoaldosteronism |
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Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Proximal renal tubul... |
ORPHA:427 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
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Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... |
OMIM:614748 |
Hypocalciuric Hypercalcemia, Familial, Type I |
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Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciuria |
OMIM:145980 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Hyperphosphaturia, Proteinuria, Hypouricemia, Large for gestational age, Hypophosphatemia, Nephro... |
OMIM:616026 |
Early-Onset Familial Hypoaldosteronism |
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Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal sodium wasting, Failure to t... |
ORPHA:556030 |
Hypophosphatemic Rickets, X-Linked Recessive |
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Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... |
OMIM:300554 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
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Hypospadias, Renal salt wasting |
OMIM:201910 |
Fanconi-Bickel Syndrome |
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Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Hypercalciuria, Generalized aminoaciduri... |
OMIM:227810 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
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Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes... |
OMIM:145981 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
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Renal salt wasting |
OMIM:613743 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
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Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Increased circulating renin level, Hypocalci... |
OMIM:612780 |
Proximal Renal Tubular Acidosis |
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Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
Familial Hypocalciuric Hypercalcemia |
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Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... |
ORPHA:405 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... |
OMIM:600740 |
Hyperaldosteronism, Familial, Type Iii |
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Hypercalciuria, Hypokalemia, Polyuria, Decreased circulating renin level |
OMIM:613677 |
Adrenal Hypoplasia, Congenital |
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Hyponatremia, Failure to thrive, Renal salt wasting |
OMIM:300200 |
Senior-Boichis Syndrome |
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Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... |
ORPHA:84081 |
Enamel-Renal Syndrome |
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Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... |
ORPHA:1031 |
Corticosteroid-Binding Globulin Deficiency |
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Hypokalemia, Decreased urinary potassium |
OMIM:611489 |
Helix Syndrome |
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Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria |
OMIM:617671 |
Familial Glucocorticoid Deficiency |
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Hyponatremia, Recurrent urinary tract infections, Renal salt wasting, Hyperkalemia, Weight loss, ... |
ORPHA:361 |
Acute Adrenal Insufficiency |
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Hyponatremia, Renal insufficiency, Hypercalcemia, Decreased urinary potassium, Renal salt wasting... |
ORPHA:95409 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
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Hyponatremia, Hypospadias, Renal salt wasting, Hyperkalemia, Increased circulating renin level, F... |
ORPHA:90791 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Cachexia, Renal salt wasting, Hyperkalemia, Abnormal urine po... |
ORPHA:275761 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium concentration, Hypernatr... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Abnormal urine potassium concentration, Hypernatr... |
ORPHA:289548 |
Addison Disease |
|
Hyponatremia, Hypercalcemia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Weigh... |
ORPHA:85138 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Hyponatremia, Renal salt wasting, Long penis, Hyperkalemia, Elevated urinary epinephrine level, H... |
ORPHA:90794 |