Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Basal ganglia calcification, Hypercalciuria, Nep... |
OMIM:601198 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Decreased circulating parathyroid hormone... |
OMIM:618883 |
Familial Isolated Hyperparathyroidism |
|
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, Hypercalciuri... |
ORPHA:99879 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Cerebral calcification, Decreased circulating parathyroid hormone level, Neph... |
OMIM:146200 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphos... |
OMIM:203330 |
Pseudohypoparathyroidism, Type Ib |
|
Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hyperphosphatemia, Hypo... |
OMIM:603233 |
Calcification Of Joints And Arteries |
|
Coronary artery calcification, Iliac arterial calcification, Femoral arterial calcification, Tibi... |
OMIM:211800 |
Calciphylaxis |
|
Hyperphosphatemia, Arterial calcification, Stage 5 chronic kidney disease, Secondary hyperparathy... |
ORPHA:280062 |
Enamel-Renal Syndrome |
|
Increased circulating osteocalcin level, Renal insufficiency, Hypophosphaturia, Impaired renal co... |
ORPHA:1031 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Coronary artery calcification, Arterial tortuosity, Abnormal vascular morphology, Decreased serum... |
ORPHA:289601 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital... |
ORPHA:2239 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hyperphosph... |
ORPHA:94090 |
Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... |
OMIM:616963 |
Blue Diaper Syndrome |
|
Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Nephrocalcinosis, ... |
ORPHA:94086 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... |
OMIM:308990 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia |
OMIM:612286 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia |
OMIM:612287 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re... |
OMIM:613388 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating osteocalcin level, Hyperphosphaturia, Decreased circulating parathyroid hor... |
ORPHA:157215 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Pseudohypoparathyroidism, Type Ic |
|
Basal ganglia calcification, Elevated circulating thyroid-stimulating hormone concentration, Chor... |
OMIM:612462 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Coronary artery calcification, Carotid artery calcification, Arterial stenosis, Generalized arter... |
OMIM:208000 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Nephrocalcinosis, Hypophosphatemic rickets, Arterial calcification, Coronary artery calcification |
OMIM:614473 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop... |
OMIM:300555 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypouricemia, Hypophosphatemia, Nephrocalcinos... |
OMIM:616026 |
Pseudohypoparathyroidism, Type Ia |
|
Basal ganglia calcification, Choroid plexus calcification, Pseudohypoparathyroidism, Elevated cir... |
OMIM:103580 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Cerebral calcification, Hypercalcemia, Elevated circulating parathyroid hormone level, Hyperphosp... |
OMIM:617994 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Hypercalcemia, Renal phosphate wasting, Hypophosphatemic rickets, Elevated c... |
OMIM:612089 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... |
ORPHA:99845 |
Autoimmune Hypoparathyroidism |
|
Calcium nephrolithiasis, Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Hypocalc... |
ORPHA:36913 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Primary hyperparathyroidism, Hypercalciur... |
OMIM:239200 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... |
ORPHA:1652 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
Pseudopseudohypoparathyroidism |
|
Abnormality of the endocrine system, Hypocalcemia, Elevated circulating parathyroid hormone level... |
ORPHA:79445 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting |
OMIM:201710 |
Idiopathic Hypercalciuria |
|
Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith... |
ORPHA:2197 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Diabetes mellitus, Hypertriglyceridemia, Hypercalciuria, Generalized aminoacid... |
ORPHA:2088 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Increased circulating corticosterone level, Renal salt wasting, Increased circulati... |
OMIM:610600 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Decreased response to growth hormone stimulation test, Pseudohypoparathyroidism, Elev... |
ORPHA:94089 |
Hypomagnesemia 2, Renal |
|
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia, Chondro... |
OMIM:154020 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Hyper... |
OMIM:614736 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Renal insufficiency, Proteinuria, Hypocalcemic tetany, Hypouricemia, Chronic kidney... |
ORPHA:411634 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis |
OMIM:613312 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... |
OMIM:300554 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Hypercalciuria, Generalized aminoaciduri... |
OMIM:227810 |
Basal Ganglia Calcification, Idiopathic, Childhood-Onset |
|
Basal ganglia calcification, Calcification of the small brain vessels, Dense calcifications in th... |
OMIM:114100 |
Hypercalcemia, Infantile, 1 |
|
Polyuria, Decreased circulating parathyroid hormone level, Hypercalcemia, Nephrolithiasis, Hyperc... |
OMIM:143880 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... |
OMIM:600740 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Decreased circulating parathyroid hormone level, Abnormal circulating ca... |
OMIM:241530 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... |
OMIM:618913 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Vitamin D-Dependent Rickets, Type 3 |
|
Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Alkaptonuria |
|
Mitral valve calcification, Coronary artery calcification, Aortic valve calcification, Elevated u... |
OMIM:203500 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Abnormal ... |
ORPHA:411629 |
Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting |
OMIM:619406 |
Arteriosclerosis, Severe Juvenile |
|
Central retinal vessel vascular tortuosity, Chronic kidney disease, Calcification of the aorta, A... |
OMIM:208060 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Generalized Arterial Calcification Of Infancy |
|
Cerebral calcification, Medial calcification of large arteries, Adrenal calcification, Abnormal r... |
ORPHA:51608 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Abnormal circulating calcium concentration, Renal phosphate wasting, Renal tubular dysfunction, E... |
OMIM:307800 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Urinary incontinence, Abnormal circulating calcium concentration, Basal ganglia calcification, Ca... |
OMIM:213600 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... |
ORPHA:564178 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Cerebral calcification, Hypergonadotropic hypogonadism, Decreased response to growth ... |
ORPHA:79444 |
Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... |
OMIM:615008 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... |
OMIM:300539 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Stroke, ... |
ORPHA:320 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Nephrogenic diabetes insipidus, Hypophosphatemia, Renal tubular... |
ORPHA:213 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Cystinosis, Nephropathic |
|
Cerebral calcification, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, ... |
OMIM:219800 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophosp... |
OMIM:156400 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... |
OMIM:613090 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis |
OMIM:239199 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Unilateral renal agenesis, Elevated circulating thyroid-stimulating hormone concentration, Neonat... |
OMIM:101800 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hyperphosphaturia, Precocious puberty, Horseshoe kidney, Coarctation of aorta, Hypophosphatemic r... |
OMIM:163200 |
Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
Mccune-Albright Syndrome |
|
Hyperphosphaturia, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocious... |
ORPHA:562 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Increased urine deoxypyridinoline level, Hydroxyprolinemia, Hypercalciuria, Hyperphosphatemia, Hy... |
OMIM:239000 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
Cystinuria |
|
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... |
OMIM:220100 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Autosomal Dominant Hypocalcemia |
|
Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypermagnesiuria |
ORPHA:428 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoa... |
OMIM:264350 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Medial calcification of large arteries, Premature occlusive vascular stenosis, Cerebral hemorrhag... |
OMIM:177850 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... |
ORPHA:94088 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Nephrotic syndrome, Hypoal... |
ORPHA:84090 |
East Syndrome |
|
Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased... |
ORPHA:199343 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Cerebral calcification, Hypergonadotropic hypogonadism, Decreased response to growth ... |
ORPHA:79443 |
Nephrotic Syndrome, Type 2 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:600995 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Primary hyp... |
OMIM:145981 |
Oncogenic Osteomalacia |
|
Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Decreased circ... |
OMIM:203400 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... |
ORPHA:556037 |
Alkaptonuria |
|
Mitral valve calcification, Coronary artery calcification, Aortic valve calcification, Nephrolith... |
ORPHA:56 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism, Renal salt wasting |
OMIM:613743 |
Malignant Hyperthermia Of Anesthesia |
|
Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise, Acute ki... |
ORPHA:423 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Hypercalciuria, Nephrolithiasis, Hypocalciur... |
OMIM:145980 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... |
OMIM:618314 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... |
ORPHA:405 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Transient hypophosphatemia, Basal ganglia calcification, Retinal calcificatio... |
OMIM:127000 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria, Subcutaneous calcification |
OMIM:617993 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati... |
ORPHA:94093 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Dilation of Virchow-Robin spaces, Hypocalciuria, Hypophosphaturia |
ORPHA:73223 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hypoplasia of penis, Hyperphosphatemia, Hypocalcemia, Congenital hypoparathyr... |
ORPHA:2323 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney diseas... |
OMIM:613845 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Elevated circulating creatinine ... |
ORPHA:340 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... |
OMIM:300200 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
ORPHA:436271 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... |
OMIM:248190 |
Hypercalciuria, Absorptive, 2 |
|
Hypercalciuria, Calcium oxalate nephrolithiasis |
OMIM:143870 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Hyperkalemia, Abnormal circulating corticosterone level, Elevated serum 11-deoxycor... |
ORPHA:556030 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Basal ganglia calcification, Retinal calcification, Hyperphosphatemia, Hypocalcemic tetany, Conge... |
ORPHA:93325 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Wilson Disease |
|
Hypoparathyroidism, Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Protein... |
OMIM:277900 |
Aortic Valve Disease 2 |
|
Calcification of the aorta, Coarctation of aorta, Ascending aortic dissection, Aortic tortuosity,... |
OMIM:614823 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypokalemia, Hyperaldosteronism, Decreased circula... |
OMIM:613677 |
Gaucher Disease, Type Iii |
|
Vascular calcification |
OMIM:231000 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
OMIM:220110 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature pubarche, Premature thelarche, Renal salt wasting... |
ORPHA:90795 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Hypercalcemia, Primary hyperparathyroidism, Nephrolithiasis... |
ORPHA:99880 |
Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype... |
OMIM:229600 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Xanthinuria, Type Ii |
|
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... |
OMIM:603592 |
Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Hypercalcemia, Primary hyperparathyroidism, Nephrolithiasis... |
ORPHA:143 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Hypercalcemia |
ORPHA:2668 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Medial calcification of large arteries, Abnormality of the endocrine system, Functional abnormali... |
ORPHA:391487 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Polyuria, Hypercalcemia,... |
OMIM:601678 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting |
OMIM:201910 |
Corticosteroid-Binding Globulin Deficiency |
|
Decreased circulating cortisol level, Hypokalemia, Decreased urinary potassium |
OMIM:611489 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Diabetes mellitus, Proteinuria, Cerebral artery atherosclerosis, Renal artery stenosis, Nephropat... |
OMIM:209010 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Hypocalciuria, Increased... |
OMIM:612780 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom... |
OMIM:162000 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Nephrotic Syndrome, Type 22 |
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Hypoproteinemia, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular base... |
OMIM:619155 |
Congenital Megacalycosis |
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Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Familial Hypoaldosteronism |
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Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Proximal renal tubul... |
ORPHA:427 |
Uremic Pruritus |
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Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
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Hyponatremia, Decreased circulating cortisol level, Hypospadias, Renal salt wasting, Increased ci... |
ORPHA:90791 |
Autosomal Recessive Hypophosphatemic Rickets |
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Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Hypocalcemic tetany, R... |
ORPHA:289176 |
Combined Oxidative Phosphorylation Deficiency 55 |
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Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypophosphate... |
OMIM:619743 |
Pulmonary Alveolar Microlithiasis |
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Calcium nephrolithiasis, Mitral valve calcification, Abnormal circulating calcium concentration, ... |
ORPHA:60025 |
46,Xx Ovotesticular Difference Of Sex Development |
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Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Bartter Syndrome Type 4 |
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Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... |
ORPHA:89938 |
Primary Hyperoxaluria Type 3 |
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Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Familial Glucocorticoid Deficiency |
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Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Recurrent urinary tract... |
ORPHA:361 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
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Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of t... |
ORPHA:231625 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
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Nephrocalcinosis, Distal renal tubular acidosis, Hypokalemia, Hypercalciuria |
OMIM:602722 |
Familial Renal Glucosuria |
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Recurrent urinary tract infections, Elevated hemoglobin A1c, Abnormal circulating insulin concent... |
ORPHA:69076 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
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Generalized aminoaciduria, Elevated circulating parathyroid hormone level, Hypocalcemia, Secondar... |
OMIM:264700 |
Adenine Phosphoribosyltransferase Deficiency |
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Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
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Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Hypercalc... |
OMIM:614732 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Transient ischemic attack, Elevated circulating creatine kinase concentration, Thoracic aortic an... |
ORPHA:365 |
Homozygous Familial Hypercholesterolemia |
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Precocious atherosclerosis, Abnormal internal carotid artery morphology, Hyperlipidemia, Renal st... |
ORPHA:391665 |
Familial Hyperaldosteronism Type Iii |
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Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:251274 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
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Abnormal renal tubular resorption, Hypercalciuria, Hepatic calcification, Hyperprostaglandinuria,... |
ORPHA:73224 |
Linear Verrucous Nevus Syndrome |
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Abnormality of the kidney, Hypophosphatemia |
ORPHA:2611 |
Cockayne Syndrome Type 3 |
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Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Basal ganglia ca... |
ORPHA:90324 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
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Hypouricemia, Hypercalciuria |
OMIM:242050 |
Acute Adrenal Insufficiency |
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Hyponatremia, Renal insufficiency, Decreased circulating cortisol level, Hypercalcemia, Adrenal h... |
ORPHA:95409 |
Colchicine Poisoning |
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Hyponatremia, Renal insufficiency, Oliguria, Abnormal blood ion concentration, Hypophosphatemia, ... |
ORPHA:31824 |
Cockayne Syndrome |
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Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... |
ORPHA:191 |
Variant Abeta2M Amyloidosis |
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Abnormal vascular morphology, Chronic kidney disease, Renal amyloidosis, Cardiovascular calcifica... |
ORPHA:314652 |
Exercise-Induced Malignant Hyperthermia |
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Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... |
ORPHA:466650 |
Hypouricemia, Renal, 1 |
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Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... |
OMIM:220150 |
Bartter Syndrome, Type 2, Antenatal |
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Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina... |
OMIM:241200 |
Hypocalcemic Vitamin D-Resistant Rickets |
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Hyperparathyroidism, Nephrolithiasis, Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Senior-Boichis Syndrome |
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Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... |
ORPHA:84081 |
Helix Syndrome |
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Renal insufficiency, Hyperparathyroidism, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia... |
OMIM:617671 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Generalized aminoaciduria, Elevated circulating parathyroid hormone level, Hypocalcemia, Secondar... |
ORPHA:289157 |
Lowe Oculocerebrorenal Syndrome |
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Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... |
OMIM:309000 |
Primary Unilateral Adrenal Hyperplasia |
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Adrenal hyperplasia, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldoste... |
ORPHA:231580 |
Cryoglobulinemia, Familial Mixed |
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Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab... |
OMIM:123550 |
Liddle Syndrome 1 |
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Hypokalemia, Renal insufficiency, Decreased circulating aldosterone level, Decreased circulating ... |
OMIM:177200 |
Gaucher Disease, Type Iiic |
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Aortic valve calcification, Mitral valve calcification, Calcification of the aorta |
OMIM:231005 |
Gitelman Syndrome |
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Polyuria, Renal magnesium wasting, Hypomagnesemia, Enuresis, Hypokalemia, Hypocalciuria, Increase... |
OMIM:263800 |
Hypophosphatemic Bone Disease |
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Hypophosphatemia |
OMIM:146350 |
Hyperoxaluria, Primary, Type Ii |
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Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
Primary Hyperoxaluria Type 2 |
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Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Eleva... |
ORPHA:168558 |
Addison Disease |
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Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Adrenal calcification, Ad... |
ORPHA:85138 |
Opsismodysplasia |
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Renal phosphate wasting, Hypophosphatemia |
OMIM:258480 |
Vitamin D-Dependent Rickets, Type 2A |
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Hypocalcemic seizures, Elevated circulating parathyroid hormone level, Secondary hyperparathyroid... |
OMIM:277440 |
Hereditary Fructose Intolerance |
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Renal insufficiency, Chronic kidney disease, Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Decreased circulating cortisol level, Renal salt wasting, Premature adrenarche, Hyponatremia, Hyp... |
ORPHA:90794 |
Thyrotoxic Periodic Paralysis |
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Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... |
ORPHA:79102 |
Hyperuricemia, Hprt-Related |
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Hyperuricemia, Renal insufficiency, Nephrolithiasis, Hyperuricosuria |
OMIM:300323 |
Refractory Celiac Disease |
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Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Aicardi-Goutières Syndrome |
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Cerebral calcification, Diabetes mellitus, Calcification of the aorta, Aortic aneurysm, Micropeni... |
ORPHA:51 |
Familial Bicuspid Aortic Valve |
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Aortic arch aneurysm, Aortic valve calcification, Coarctation of aorta, Ascending aortic dissecti... |
ORPHA:402075 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
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Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morpholog... |
OMIM:614227 |
Gitelman Syndrome |
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Cerebral calcification, Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tub... |
ORPHA:358 |
Cystinuria |
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Hematuria, Hyperuricemia, Renal insufficiency, Nephrolithiasis |
ORPHA:214 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatr... |
ORPHA:534 |
Oculoskeletodental Syndrome |
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Renal agenesis, Hypercalcemia, Hypercalciuria, Lacunar stroke, Mucopolysacchariduria, Hypocalcemi... |
OMIM:618440 |
Hypophosphatasia, Infantile |
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Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Hypercalciuria, Nephr... |
OMIM:241500 |
Pearson Syndrome |
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Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Proteinuria, Decreased response to gr... |
ORPHA:699 |
Renal Cysts And Diabetes Syndrome |
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Hypospadias, Proteinuria, Unilateral renal agenesis, Renal hypoplasia, Renal cyst, Stage 5 chroni... |
OMIM:137920 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
X-Linked Hypophosphatemia |
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Renal phosphate wasting, Hypocalciuria, Hypophosphatemia |
ORPHA:89936 |
Lysosomal Acid Lipase Deficiency |
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Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Bone-marrow foam cells, Renal salt was... |
ORPHA:275761 |
Fibrous Dysplasia Of Bone |
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Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... |
ORPHA:249 |
Primary Hyperoxaluria |
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Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Calcinosis cutis, Chronic kidney diseas... |
ORPHA:416 |
Gaisböck Syndrome |
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Diabetes mellitus, Hypertriglyceridemia, Peripheral arterial stenosis, Nephrocalcinosis, Hypernat... |
ORPHA:90041 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Mitral valve calcification, Aortic valve calcification, Calcification of the aorta, Varicose vein... |
ORPHA:2072 |
Multiple Endocrine Neoplasia Type 2 |
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Paraganglioma of head and neck, Elevated urinary catecholamine level, Hypercalcemia, Thyroid C ce... |
ORPHA:653 |
Raine Syndrome |
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Cerebral calcification, Hydroureter, Hydronephrosis, Hypophosphatemia |
OMIM:259775 |
Von Hippel-Lindau Syndrome |
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Papillary cystadenoma of the epididymis, Multiple renal cysts, Epididymal cyst |
OMIM:193300 |
Multiple Endocrine Neoplasia Type 1 |
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Pituitary corticotropic cell adenoma, Pancreatic endocrine tumor, Pituitary gonadotropic cell ade... |
ORPHA:652 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
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Ureteral stenosis, Hydroureter, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Nephrocalci... |
OMIM:615398 |
Arima Syndrome |
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Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R... |
OMIM:243910 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Patent ductus arteri... |
ORPHA:369837 |
Autosomal Recessive Malignant Osteopetrosis |
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Pulmonary artery stenosis, Hypocalcemia, Hypophosphatemia |
ORPHA:667 |
Pearson Marrow-Pancreas Syndrome |
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Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Complex organic aciduria, Hype... |
OMIM:557000 |
Leprechaunism |
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Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyroidism, Nephrocalcinosis, Hypokalem... |
ORPHA:508 |
Von Hippel-Lindau Disease |
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Papillary cystadenoma of the epididymis, Epididymal cyst, Multiple renal cysts, Elevated urinary ... |
ORPHA:892 |
Floating-Harbor Syndrome |
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Hypospadias, Precocious puberty, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Vari... |
ORPHA:2044 |
Cranioectodermal Dysplasia 1 |
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Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubulointerstiti... |
OMIM:218330 |
Floating-Harbor Syndrome |
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Hypospadias, Cryptorchidism, Glandular hypospadias, Varicocele, Nephrocalcinosis, Congenital post... |
OMIM:136140 |
Williams Syndrome |
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Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal cerebral vascul... |
ORPHA:904 |
Williams-Beuren Syndrome |
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Nephrocalcinosis, Early onset of sexual maturation, Vesicoureteral reflux, Micropenis, Pelvic kid... |
OMIM:194050 |
Beckwith-Wiedemann Syndrome |
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Ureteral duplication, Adrenocortical cytomegaly, Elevated circulating alpha-fetoprotein concentra... |
ORPHA:116 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
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Nephrocalcinosis, Hypercalciuria, Patent ductus arteriosus, Renal dysplasia |
OMIM:300990 |
Singleton-Merten Syndrome 1 |
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Aortic valve calcification, Mitral valve calcification, Aortic arch calcification |
OMIM:182250 |
Sarcoidosis |
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Renal insufficiency, Hyperthyroidism, Diabetes insipidus, Hypercalcemia, Nephrolithiasis, Hyperca... |
ORPHA:797 |
Osteogenesis Imperfecta |
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Cerebral hemorrhage, Hypercalciuria, Nephrolithiasis, Aortic root aneurysm, Aortic dissection, Ar... |
ORPHA:666 |
Cystic Fibrosis |
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Hypercalciuria |
OMIM:219700 |
Sarcoidosis, Susceptibility To, 1 |
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Hypercalciuria |
OMIM:181000 |