Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Renal phosphate wasting, Renal hypophosphatemia |
OMIM:241519 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemia, Hypercalciuria, Hyperphosphaturia |
OMIM:612286 |
Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep... |
OMIM:616963 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia |
OMIM:612287 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria... |
OMIM:308990 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, Renal insufficiency, Hypercalcemia, Infantil... |
ORPHA:99879 |
Dent Disease 2 |
|
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Elevated circulating creatine kinase con... |
OMIM:300555 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia, Glycosuria, Hypercalciuria, Generalized aminoaciduria, Renal insufficiency, Pro... |
OMIM:613388 |
Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... |
OMIM:615605 |
Dent Disease 1 |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Hypophosphatemia, Aminoaciduria... |
OMIM:300009 |
Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuria, Renal insuff... |
OMIM:134600 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Nephrolithiasis, Hypophosphatemic rickets, Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, M... |
ORPHA:157215 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
Fanconi-Bickel Syndrome |
|
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Glycosuria, Generalized aminoaciduria, ... |
OMIM:227810 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Aminoaciduria, Glycosuria, Proteinuria, Hyperphosphaturia, Nephrocalcinosis, Hy... |
OMIM:616026 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Medullary nephrocalcinosis, Hypophosphatemic rickets, Hyperphosphaturia |
OMIM:613312 |
Dent Disease |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci... |
ORPHA:1652 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosi... |
OMIM:618913 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
Hyperparathyroidism, Neonatal Severe |
|
Hypophosphatemia, Aminoaciduria, Polyuria, Hypercalciuria, Hypercalcemia, Calcinosis, Hyperphosph... |
OMIM:239200 |
Fanconi-Bickel Syndrome |
|
Hypophosphatemia, Renal tubular acidosis, Glycosuria, Nephropathy, Hypercalciuria, Hypertriglycer... |
ORPHA:2088 |
Hypocalcemia, Autosomal Dominant 1 |
|
Nephrolithiasis, Hypomagnesemia, Hypokalemia, Hypocalcemia, Decreased glomerular filtration rate,... |
OMIM:601198 |
Alport Syndrome 3, Autosomal Dominant |
|
Hypophosphatemia, Nephrotic syndrome, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme... |
OMIM:104200 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Bicarbonate-was... |
ORPHA:3337 |
Medullary Sponge Kidney |
|
Nephrolithiasis, Distal renal tubular acidosis, Hematuria, Hypercalciuria |
ORPHA:1309 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... |
OMIM:310468 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Hypomagnesemia, Episodic hypokalemia, Renal potassium wasting, Nephrocalcinosis, Renal magnesium ... |
ORPHA:564178 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration |
OMIM:603233 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Nephrolithiasis, Hypophosphatemic rickets, Hypophosphatemia, Chronic kid... |
OMIM:300554 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia |
OMIM:612089 |
Hypercalciuria, Absorptive, 2 |
|
Calcium oxalate nephrolithiasis, Hypercalciuria |
OMIM:143870 |
Infantile Nephropathic Cystinosis |
|
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuria, Low-molecula... |
ORPHA:411629 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Polyuria, Hyperphosphatemia |
OMIM:239350 |
Idiopathic Hypercalciuria |
|
Renal calcium wasting, Hypercalciuria, Calcium oxalate nephrolithiasis |
ORPHA:2197 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypophosp... |
OMIM:600740 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
Oncogenic Osteomalacia |
|
Renal phosphate wasting, Hyperphosphaturia, Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Hypercalciuria, Hypercalcemia, Hyperphosphaturia, Nephrocalcinosis |
OMIM:156400 |
Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Renal salt wasting |
OMIM:201710 |
Juvenile Nephropathic Cystinosis |
|
Renal phosphate wasting, Chronic kidney disease, Hypophosphatemia, Hypokalemia, Hypocalcemia, Ami... |
ORPHA:411634 |
Hypomagnesemia 2, Renal |
|
Hypomagnesemia, Hypokalemia, Hypocalciuria, Renal insufficiency, Renal magnesium wasting |
OMIM:154020 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Distal Renal Tubular Acidosis |
|
Nephrolithiasis, Hypokalemia, Aminoaciduria, Decreased glomerular filtration rate, Low-molecular-... |
ORPHA:18 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium wasting, Renal magnesium wasting |
OMIM:618314 |
Proximal Renal Tubular Acidosis |
|
Nephrolithiasis, Hypokalemia, Aminoaciduria, Hyperuricosuria, Glycosuria, Global proximal tubulop... |
ORPHA:47159 |
Familial Hypocalciuric Hypercalcemia |
|
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Renal hyp... |
ORPHA:405 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Proteinuria, Hyperp... |
ORPHA:436271 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Nephrocalcinosis, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:146200 |
Cystinosis |
|
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Nephropathy, Proteinuria... |
ORPHA:213 |
Fructose Intolerance, Hereditary |
|
Hypophosphatemia, Transient aminoaciduria, Hyperbilirubinemia, Hyperuricosuria, Proximal renal tu... |
OMIM:229600 |
Blue Diaper Syndrome |
|
Blue urine, Nephrocalcinosis, Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemic rickets, Hypophosphatemia, H... |
OMIM:241530 |
Cystinosis, Nephropathic |
|
Glycosuria, Hematuria, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Hyponatremia... |
OMIM:219800 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:145600 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypercalciuria, Hypouricemia |
OMIM:242050 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Renal tubular dysfunction, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Proteinuria, Hyperp... |
OMIM:220110 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Renal phosphate wasting, Renal tubular dysfunction, Hypophosphatemic rickets, Hypophosphatemia, A... |
OMIM:307800 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Hypercalcemia |
OMIM:239199 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased circulating renin level, Hypernatriuria, Decreased serum creatinine, Hyponatremia |
OMIM:300539 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hyperphosphaturia, Hypophosphatemic rickets, Horseshoe kidney |
OMIM:163200 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... |
ORPHA:94088 |
Uremic Pruritus |
|
Chronic kidney disease, Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hyp... |
ORPHA:94059 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94090 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypomagnesemia, Stage 3 chronic kidney disease, Eleva... |
OMIM:619743 |
Hypokalemic Tubulopathy And Deafness |
|
Increased circulating renin level, Renal salt wasting |
OMIM:619406 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Oliguria, Hyperphosphatemia, Renal insufficien... |
ORPHA:99845 |
Enamel-Renal Syndrome |
|
Impaired renal concentrating ability, Hypophosphaturia, Hypocalciuria, Nephropathy, Renal insuffi... |
ORPHA:1031 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Renal phosphate wasting, Hypophosphatemic rickets, Abnormality of renal excretion, Renal hypophos... |
ORPHA:289176 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Renal salt wasting |
OMIM:614736 |
Wilson Disease |
|
Renal tubular dysfunction, Nephrolithiasis, Increased circulating copper concentration, Hyperbili... |
OMIM:277900 |
Hypophosphatemic Rickets |
|
Renal phosphate wasting, Hypophosphatemia, Hypocalciuria, Hypercalciuria, Renal insufficiency, Hy... |
ORPHA:437 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Polyuria, Increased circulating renin level, Hypercalciuria, Hyponatremia, Medullary... |
OMIM:300971 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Decreased glomerular filtration rate, Increased urinary potassium, Polyuria, Hyperna... |
OMIM:613090 |
Linear Verrucous Nevus Syndrome |
|
Abnormality of the kidney, Hypophosphatemia |
ORPHA:2611 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Oliguria, Abnormal blood ion concent... |
ORPHA:31824 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Nephrolithiasis, Renal calcium wasting, Hypomagnesemia, Chronic kidney disease, Recurrent urinary... |
OMIM:248190 |
Hypomagnesemia 3, Renal |
|
Nephrolithiasis, Renal calcium wasting, Hypomagnesemia, Chronic kidney disease, Renal tubular aci... |
OMIM:248250 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal salt wasting |
OMIM:610600 |
Bartter Syndrome, Type 3 |
|
Hypokalemia, Increased urinary potassium, Polyuria, Hypocalciuria, Increased circulating renin le... |
OMIM:607364 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Nephrolithiasis, Hypocalciuria, Hypercalciuria, Hypercalcemia, Hypermagnesemia |
OMIM:145980 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria |
OMIM:617993 |
Mccune-Albright Syndrome |
|
Renal phosphate wasting, Hyperphosphaturia, Hypophosphatemia, Renal tubular dysfunction |
ORPHA:562 |
East Syndrome |
|
Hypomagnesemia, Hypokalemia, Abnormal urinary electrolyte concentration, Increased circulating re... |
ORPHA:199343 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal salt wasting |
OMIM:203400 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, Reduced renal corti... |
OMIM:602522 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Distal renal tubular acidosis, Hypokalemia, Nephrocalcinosis, Hypercalciuria |
OMIM:602722 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154275 |
Calciphylaxis |
|
Hyperphosphatemia, Stage 5 chronic kidney disease |
ORPHA:280062 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hypomagnesemia, Chronic kidney disease, Polyuria, Hyperechogenic kidneys, Proteinuria, Hyponatrem... |
OMIM:613845 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Decreased renal tubular phosphate excretion, Increased renal tubular phosphate reabsorption, Hype... |
OMIM:211900 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... |
OMIM:174000 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Nephrolithiasis, Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154276 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... |
ORPHA:730 |
Lowe Oculocerebrorenal Syndrome |
|
Aminoaciduria, Proximal renal tubular acidosis, Renal Fanconi syndrome, Bicarbonaturia, Proteinur... |
OMIM:309000 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia |
ORPHA:398063 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypocalci... |
OMIM:145981 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Generalized aminoaciduria, Hypophosphatemia, Hypocalcemic seizures |
OMIM:264700 |
Hereditary Fructose Intolerance |
|
Chronic kidney disease, Hypophosphatemia, Renal insufficiency, Hyperuricemia, Hypermagnesemia |
ORPHA:469 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephrolithiasis, Hypophosphatemia, Nephroblastoma, Hypercalciuria, Renal cyst, Renal insufficienc... |
ORPHA:99880 |
Primary Hyperoxaluria Type 3 |
|
Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Ab... |
ORPHA:93600 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Hypomagnesemia, Hypokalemia, Polyuria, Hypocalciuria, Increased circulating renin level, Renal so... |
OMIM:612780 |
Parathyroid Carcinoma |
|
Nephrolithiasis, Hypophosphatemia, Nephroblastoma, Hypercalciuria, Renal cyst, Renal insufficienc... |
ORPHA:143 |
Hypercalcemia, Infantile, 1 |
|
Nephrolithiasis, Polyuria, Hypercalciuria, Infantile hypercalcemia, Nephrocalcinosis |
OMIM:143880 |
Adrenocortical Hypofunction, Chronic Primary Congenital |
|
Hypernatriuria |
OMIM:103230 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemia, Calcium nephrolithiasis, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:36913 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Renal salt wasting |
OMIM:264350 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Generalized aminoaciduria, Hypophosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:289157 |
Hyperaldosteronism, Familial, Type Iii |
|
Decreased circulating renin level, Polyuria, Hypokalemia, Hypercalciuria |
OMIM:613677 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypophosphatemia |
OMIM:600081 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal sodium wasting |
ORPHA:556037 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Nephrocalcinosis |
OMIM:614473 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration |
OMIM:612462 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Low urinary cyclic A... |
ORPHA:94089 |
Familial Hypoaldosteronism |
|
Proximal renal tubular acidosis, Increased circulating renin level, Hyponatremia, Decreased urina... |
ORPHA:427 |
Thyrotoxic Periodic Paralysis |
|
Hypomagnesemia, Episodic hypokalemia, Mildly elevated creatine kinase, Urinary retention, Transie... |
ORPHA:79102 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Renal salt wasting |
OMIM:201910 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Renal salt wasting |
OMIM:613743 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypophosphatemia, Hypocalcemic seizures |
OMIM:277440 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinuria, Hydroxyprolinemia, Hypercalciuria, Hyperphosphatemia, Hyperuricemia, Increased... |
OMIM:239000 |
Opsismodysplasia |
|
Renal phosphate wasting, Hypophosphatemia |
OMIM:258480 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Increased circulating renin level, Renal sodium wasting |
ORPHA:556030 |
Apparent Mineralocorticoid Excess |
|
Hypokalemia, Abnormal urine sodium concentration, Renal insufficiency, Decreased circulating reni... |
ORPHA:320 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Renal interstiti... |
ORPHA:85450 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration |
OMIM:103580 |
Autosomal Dominant Hypocalcemia |
|
Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hyperphosphatemia, Hypermagnesiuria, Nephrocalcinosis |
ORPHA:428 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Increased urinary potassium, Renal juxtaglom... |
OMIM:601678 |
Bartter Syndrome Type 4 |
|
Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Impaired renal concentrating ability, Chroni... |
ORPHA:89938 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Hypercalciuria, Hypercalcemia, Micropenis |
OMIM:614732 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Hyperphosphatemia |
OMIM:614207 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Myoglobinuria, Hyperphosphatemia, Acute kidney injury, H... |
ORPHA:423 |
Helix Syndrome |
|
Nephrolithiasis, Hypokalemia, Polyuria, Hypocalciuria, Renal insufficiency, Hypermagnesemia |
OMIM:617671 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Micropenis |
OMIM:241410 |
Pearson Syndrome |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypokalemia, Lacticaciduria, Glycosuria, Renal cy... |
ORPHA:699 |
X-Linked Hypophosphatemia |
|
Renal phosphate wasting, Hypophosphatemia, Hypocalciuria |
ORPHA:89936 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Oculocerebrorenal Syndrome Of Lowe |
|
Nephrolithiasis, Hypophosphatemia, Hypokalemia, Oligosacchariduria, Aminoaciduria, Hypoammonemia,... |
ORPHA:534 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Myoglobinuria, ... |
ORPHA:94093 |
Raine Syndrome |
|
Hydroureter, Hypophosphatemia, Hydronephrosis |
OMIM:259775 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia |
OMIM:127000 |
Senior-Boichis Syndrome |
|
Renal atrophy, Chronic kidney disease, Reduced renal corticomedullary differentiation, Hyperechog... |
ORPHA:84081 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Increased urinary potassium, Renal juxtaglom... |
OMIM:241200 |
Hemorrhagic Fever-Renal Syndrome |
|
Chronic kidney disease, Decreased glomerular filtration rate, Glomerulonephritis, Hematuria, Olig... |
ORPHA:340 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperprostaglandinuria, Hypomagnesemia, Hypocalcemia, Abnormal renal tubular resorption, Hypercal... |
ORPHA:73224 |
Gitelman Syndrome |
|
Hypomagnesemia, Hypokalemia, Polyuria, Hypocalciuria, Nocturia, Increased circulating renin level... |
OMIM:263800 |
Primary Unilateral Adrenal Hyperplasia |
|
Decreased circulating renin level, Hypokalemia, Increased urinary potassium |
ORPHA:231580 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Phosphoethanolaminuria, Hypercalciuria, Hypercalcemia, Elevated ur... |
OMIM:241500 |
Fibrous Dysplasia Of Bone |
|
Hypophosphatemia, Hypercalcemia |
ORPHA:249 |
Sanjad-Sakati Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Hypoplasia of penis |
ORPHA:2323 |
Generalized Arterial Calcification Of Infancy |
|
Hypophosphatemic rickets, Medullary nephrocalcinosis, Hyperphosphaturia, Cortical nephrocalcinosi... |
ORPHA:51608 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Renal salt wasting |
OMIM:300200 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Abnormal penis morphology, Hyperphosphatemia |
ORPHA:457059 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Low urin... |
ORPHA:79444 |
Familial Hyperaldosteronism Type Iii |
|
Hypokalemia, Hypercalciuria |
ORPHA:251274 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Decreased circulating renin level, Hypokalemia, Increased urinary potassium |
ORPHA:231625 |
Familial Glucocorticoid Deficiency |
|
Recurrent urinary tract infections, Hypernatriuria, Hyponatremia, Hyperkalemia, Renal salt wasting |
ORPHA:361 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Renal agenesis, Hypercalciuria, Mucopolysacchariduria, Hypercalcemia |
OMIM:618440 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Hypophosphaturia, Hypocalciuria |
ORPHA:73223 |
Acute Adrenal Insufficiency |
|
Increased circulating renin level, Renal insufficiency, Hyponatremia, Hyperuricemia, Hypercalcemi... |
ORPHA:95409 |
Primary Hyperoxaluria |
|
Chronic kidney disease, Calcium oxalate nephrolithiasis, Hematuria, Hypercalciuria, Aciduria, Hyp... |
ORPHA:416 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:667 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Unilateral renal agenesis, Hyperphosphatemia |
OMIM:101800 |
Pseudohypoparathyroidism Type 1A |
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Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypocalcemic seizures, Low urin... |
ORPHA:79443 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
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Hypospadias, Increased circulating renin level, Penoscrotal hypospadias, Hyponatremia, Hyperkalem... |
ORPHA:90791 |
Exercise-Induced Malignant Hyperthermia |
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Hypocalcemia, Elevated circulating creatine kinase concentration, Oliguria, Hyperphosphatemia, Ac... |
ORPHA:466650 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
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Hypokalemia, Increased urinary 11-deoxycorticosterone level, Long penis, Decreased circulating re... |
ORPHA:90795 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Urogenital sinus anomaly, Midshaft hypospadias, Abnormal urine potassium concentration, Increased... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Urogenital sinus anomaly, Midshaft hypospadias, Abnormal urine potassium concentration, Increased... |
ORPHA:289548 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
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Renal cyst, Nephrocalcinosis, Ureteral stenosis, Hypercalciuria |
OMIM:615398 |
Gitelman Syndrome |
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Hypomagnesemia, Hypocalcemia, Hypokalemia, Renal tubular acidosis, Nocturia, Focal segmental glom... |
ORPHA:358 |
Lysosomal Acid Lipase Deficiency |
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Abnormal urine potassium concentration, Hypertriglyceridemia, Hypernatriuria, Hyponatremia, Hyper... |
ORPHA:275761 |
Addison Disease |
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Increased circulating renin level, Hyponatremia, Hyperuricemia, Hypercalcemia, Decreased urinary ... |
ORPHA:85138 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
Acrodysostosis With Multiple Hormone Resistance |
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Hypospadias, Hypocalcemia, Hyperphosphatemia |
ORPHA:280651 |
Gaisböck Syndrome |
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Hyperproteinemia, Increased circulating renin level, Hypertriglyceridemia, Hypernatriuria, Hyperu... |
ORPHA:90041 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Congenital megaureter, Abnormality of the urinary system, Hypercalciuria, Renal dysplasia, Hypert... |
ORPHA:369837 |
Multiple Endocrine Neoplasia Type 2 |
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Nephrolithiasis, Elevated urinary vanillylmandelic acid, Elevated urinary catecholamines, Hyperca... |
ORPHA:653 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Urogenital sinus anomaly, Long penis, Hypernatriuria, Hyponatremia, Elevated urinary epinephrine,... |
ORPHA:90794 |
Pearson Marrow-Pancreas Syndrome |
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Hyperbilirubinemia, 3-Methylglutaric aciduria, Hypercalciuria, Complex organic aciduria, Renal Fa... |
OMIM:557000 |
Cranioectodermal Dysplasia 1 |
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Chronic kidney disease, Hypocalcemia, Stage 1 chronic kidney disease, Tubulointerstitial nephriti... |
OMIM:218330 |
Leprechaunism |
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Hypokalemia, Hypercalciuria, Long penis, Increased circulating renin level, Enlarged kidney, Neph... |
ORPHA:508 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
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Nephrocalcinosis, Hypercalciuria, Renal dysplasia |
OMIM:300990 |
Beckwith-Wiedemann Syndrome |
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Nephrolithiasis, Congenital megaureter, Elevated alpha-fetoprotein, Nephroblastoma, Ureteral dupl... |
ORPHA:116 |
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation |
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Hypospadias, Microscopic nephrocalcinosis, Hypercalciuria |
OMIM:219721 |
Williams Syndrome |
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Nephrolithiasis, Bladder diverticulum, Hypoplasia of penis, Abnormal circulating lipid concentrat... |
ORPHA:904 |
Williams-Beuren Syndrome |
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Bladder diverticulum, Micropenis, Recurrent urinary tract infections, Hypercalciuria, Abnormal re... |
OMIM:194050 |
Sarcoidosis |
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Nephrolithiasis, Hypercalciuria, Tubulointerstitial nephritis, Renal insufficiency, Hypercalcemia... |
ORPHA:797 |
Multiple Endocrine Neoplasia Type 1 |
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Nephrolithiasis, Hypercalciuria, Hypercalcemia |
ORPHA:652 |
Osteogenesis Imperfecta |
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Nephrolithiasis, Hypercalciuria |
ORPHA:666 |
Cystic Fibrosis |
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Hypercalciuria |
OMIM:219700 |
Sarcoidosis, Susceptibility To, 1 |
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Hypercalciuria |
OMIM:181000 |