| Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Recurrent urinary tract infect... |
OMIM:248190 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Nephrocalcinosis, Renal potassium wasting, Renal magnesium wasting |
ORPHA:564178 |
| Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
| Distal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Failure to thrive, Low-molecular-weight pr... |
ORPHA:18 |
| Hypomagnesemia 3, Renal |
|
Chronic kidney disease, Hematuria, Macroscopic hematuria, Renal magnesium wasting, Sterile pyuria... |
OMIM:248250 |
| Myelopathy, Htlv-1-Associated |
|
Myelopathy |
OMIM:159580 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... |
OMIM:308990 |
| Hypomagnesemia 2, Renal |
|
Hypocalciuria, Renal insufficiency, Renal magnesium wasting |
OMIM:154020 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Nephrocalcinosis, Renal potassium wasting, Renal magnesium wasting, Polyuria |
OMIM:618314 |
| Medullary Sponge Kidney |
|
Hematuria, Distal renal tubular acidosis, Hypercalciuria, Nephrolithiasis |
ORPHA:1309 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... |
OMIM:310468 |
| East Syndrome |
|
Abnormal urinary electrolyte concentration, Renal magnesium wasting, Renal sodium wasting, Renal ... |
ORPHA:199343 |
| Hypercalciuria, Absorptive, 2 |
|
Calcium oxalate nephrolithiasis, Hypercalciuria |
OMIM:143870 |
| Idiopathic Hypercalciuria |
|
Calcium oxalate nephrolithiasis, Renal calcium wasting, Hypercalciuria |
ORPHA:2197 |
| Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Hyperca... |
OMIM:616963 |
| Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
| Lipoid Congenital Adrenal Hyperplasia |
|
Renal salt wasting, Hypospadias |
OMIM:201710 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Nephrocalcinosis, Hypercalciuria, Hypermagnesiuria, Hyperprost... |
ORPHA:73224 |
| Autosomal Dominant Hypocalcemia |
|
Nephrocalcinosis, Hypercalciuria, Hypermagnesiuria |
ORPHA:428 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypocalciuria, Hypomagnesiuria, Nephrolithiasis, Parathormone-independent increased renal tubular... |
ORPHA:405 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Renal phosphate wasting, Hypercalciuria, Hyperphosphaturia, Nephrolithiasis |
OMIM:612286 |
| Gitelman Syndrome |
|
Hypocalciuria, Enuresis, Failure to thrive, Renal magnesium wasting, Polyuria, Nocturia, Renal po... |
OMIM:263800 |
| Fanconi Renotubular Syndrome 2 |
|
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... |
OMIM:613388 |
| Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphaturia |
OMIM:615605 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypoglycemia, Large for gestational age, Hyperphosph... |
OMIM:616026 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Nephrocalcinosis, Hypercalciuria, Renal tubular acidosis, Failure to thrive |
OMIM:239199 |
| Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Nephrolithiasis, Weight loss, Hy... |
OMIM:143880 |
| Mody |
|
Nephropathy, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Obesity, Glucose int... |
ORPHA:552 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria |
OMIM:617993 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Renal salt wasting, Hypospadias, Hypoglycemia |
OMIM:201910 |
| Dent Disease 2 |
|
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... |
OMIM:300555 |
| Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... |
OMIM:134600 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis |
OMIM:612287 |
| Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, Uric acid urol... |
ORPHA:94088 |
| Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Hypoglyce... |
ORPHA:3337 |
| Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Glycosuria,... |
ORPHA:2088 |
| Dent Disease 1 |
|
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... |
OMIM:300009 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Chronic kidney disease, Failure to thrive, Hyperechogenic kidneys, Proteinuria, Polyuria, Renal s... |
OMIM:613845 |
| Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly |
ORPHA:63260 |
| Dent Disease |
|
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... |
ORPHA:1652 |
| Bartter Syndrome, Type 3 |
|
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Increased urinary potassium, Impaired renal tu... |
OMIM:607364 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Failure to thrive, Hypernatriuria, Decreased glomerular filtration rate, Renal ... |
OMIM:613090 |
| Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypercalciuria |
OMIM:242050 |
| Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypercalciuria, Nephrocalcinosis, Distal renal tubular acidosis, Failure to thrive |
OMIM:602722 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Renal salt wasting, Failure to thrive, Hypoglycemia |
OMIM:614736 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, D... |
OMIM:174000 |
| Hypokalemic Tubulopathy And Deafness |
|
Renal salt wasting |
OMIM:619406 |
| Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Renal salt wasting |
OMIM:613743 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Renal salt wasting, Failure to thrive |
OMIM:610600 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephropathy, Abnormal urinary electrolyte concentration, Decreased glomerular filtration rate, Re... |
ORPHA:85450 |
| Cranioectodermal Dysplasia 1 |
|
Chronic kidney disease, Renal magnesium wasting, Stage 1 chronic kidney disease, Stage 5 chronic ... |
OMIM:218330 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Renal salt wasting, Failure to thrive |
OMIM:203400 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Failure to thrive, Hypernatriuria, Decreased glomerular filtration rate, Reduce... |
OMIM:602522 |
| Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Generalized aminoaciduria, Ketonuria, Failure to thrive, Glycosuria, ... |
OMIM:227810 |
| Juvenile Nephropathic Cystinosis |
|
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Glycosuria,... |
ORPHA:411634 |
| Familial Isolated Hyperparathyroidism |
|
Nephrocalcinosis, Hypercalciuria, Renal insufficiency, Hyperphosphaturia |
ORPHA:99879 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Renal salt wasting, Failure to thrive |
OMIM:264350 |
| Renal Tubular Acidosis, Proximal |
|
Hypercalciuria, Proximal renal tubular acidosis |
OMIM:179830 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... |
OMIM:300554 |
| Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Glycosuria, Failure to thrive, Hypernatriuria, Low-molecular-wei... |
ORPHA:47159 |
| Familial Glucocorticoid Deficiency |
|
Failure to thrive, Hypernatriuria, Recurrent urinary tract infections, Ketotic hypoglycemia, Weig... |
ORPHA:361 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyposthenuria, Hypernatriuria |
OMIM:300539 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypocalciuria, Enuresis, Renal sodium wasting, Polyuria, Renal salt wasting, Renal potassium wasting |
OMIM:612780 |
| Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalciuria, Hypocalciuria, Nephrolithiasis |
OMIM:145980 |
| Apparent Mineralocorticoid Excess |
|
Abnormal urine sodium concentration, Nephrocalcinosis, Renal insufficiency, Failure to thrive |
ORPHA:320 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Aminoaciduria, Glycosuria, Failure to thrive, Hyperphosphaturia, Renal tubular dysfunction, Prote... |
ORPHA:436271 |
| Familial Hypoaldosteronism |
|
Renal salt wasting, Decreased urinary potassium, Failure to thrive, Proximal renal tubular acidosis |
ORPHA:427 |
| Bartter Syndrome Type 4 |
|
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Failure to thrive, Stage 5 chronic... |
ORPHA:89938 |
| Bartter Syndrome, Type 1, Antenatal |
|
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Failure t... |
OMIM:601678 |
| Late-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Renal sodium wasting |
ORPHA:556037 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Renal phosphate wasting, Calcium nephrolithiasis, Failure to thrive, Renal tubular dysfunction, H... |
OMIM:241530 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Glycosuria, Failure to thrive, Hyperphosphaturia, Renal tubular dysfunction, Prote... |
OMIM:220110 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Micropenis, Hypercalciuria, Hypospadias |
OMIM:614732 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Neural tube defect |
ORPHA:268810 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Decreased glomerular filtration rate, Nephrocalcinosis, Hypercalciuria, Nephrolithiasis |
OMIM:601198 |
| Senior-Boichis Syndrome |
|
Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Hyperechoge... |
ORPHA:84081 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Renal phosphate wasting |
OMIM:193100 |
| Early-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Renal sodium wasting |
ORPHA:556030 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Parathormone-independent increased renal tubular calcium reabsorption, Hypocalciuria, Nephrolithi... |
OMIM:145981 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Medullary nephrocalcinosis, Hypercalciuria, Hyperphosphaturia, Nephrolithiasis |
ORPHA:157215 |
| Enamel-Renal Syndrome |
|
Nephropathy, Nephrocalcinosis, Hypocalciuria, Hypophosphaturia, Renal insufficiency, Impaired ren... |
ORPHA:1031 |
| Bartter Syndrome, Type 2, Antenatal |
|
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Failure t... |
OMIM:241200 |
| Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Unilateral renal agenesis, Renal hypoplasia, Maturity-onset diabetes of the young, G... |
OMIM:137920 |
| Adrenal Hypoplasia, Congenital |
|
Renal salt wasting, Failure to thrive |
OMIM:300200 |
| Gitelman Syndrome |
|
Insulin resistance, Focal segmental glomerulosclerosis, Type I diabetes mellitus, Enuresis, Failu... |
ORPHA:358 |
| Alg3-Cdg |
|
Neural tube defect |
ORPHA:79321 |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Medullary nephrocalcinosis, Hyperphosphaturia |
OMIM:613312 |
| Hypophosphatasia, Infantile |
|
Nephrocalcinosis, Phosphoethanolaminuria, Failure to thrive, Hypercalciuria, Elevated urine pyrop... |
OMIM:241500 |
| Primary Hyperoxaluria |
|
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Failure to thrive, ... |
ORPHA:416 |
| Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Glycosuria, Failure to thrive, Low-molecular-weight proteinuria, Hyperphosphaturia... |
ORPHA:411629 |
| Corticosteroid-Binding Globulin Deficiency |
|
Decreased urinary potassium |
OMIM:611489 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Failure to thrive, Penoscrotal hypospadias, Renal salt wasting, Neonatal hypoglycemia, Hypospadias |
ORPHA:90791 |
| Hyperparathyroidism, Neonatal Severe |
|
Aminoaciduria, Failure to thrive, Hyperphosphaturia, Hypercalciuria, Polyuria |
OMIM:239200 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypercalciuria |
ORPHA:2239 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Medullary nephrocalcinosis, Hypercalciuria, Polyuria |
OMIM:300971 |
| Hyperaldosteronism, Familial, Type Iii |
|
Hypercalciuria, Polyuria |
OMIM:613677 |
| Cystinosis, Nephropathic |
|
Aminoaciduria, Generalized aminoaciduria, Glycosuria, Failure to thrive, Failure to thrive in inf... |
OMIM:219800 |
| Fructose Intolerance, Hereditary |
|
Proximal tubulopathy, Transient aminoaciduria, Failure to thrive, Glycosuria, Hypoglycemia, Hyper... |
OMIM:229600 |
| Acute Adrenal Insufficiency |
|
Failure to thrive, Hypoglycemia, Renal insufficiency, Decreased urinary potassium, Weight loss, R... |
ORPHA:95409 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Nephrocalcinosis, Hydroureter, Ureteral stenosis, Large for gestational age, Renal cyst, Hypercal... |
OMIM:615398 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolithiasis, Parath... |
OMIM:600740 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Midshaft hypospadias, Failure to thrive, Hypernatriuria, Abnormal urine potassium concentration, ... |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Midshaft hypospadias, Failure to thrive, Hypernatriuria, Abnormal urine potassium concentration, ... |
ORPHA:289548 |
| Oculoskeletodental Syndrome |
|
Hypercalciuria, Mucopolysacchariduria, Renal agenesis, Small for gestational age |
OMIM:618440 |
| Helix Syndrome |
|
Hypocalciuria, Renal insufficiency, Polyuria, Nephrolithiasis |
OMIM:617671 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Hypercalciuria, Increased urine deoxypyridinoline level, Hydroxyprolinuria, Failure to thrive |
OMIM:239000 |
| Oncogenic Osteomalacia |
|
Renal phosphate wasting, Hyperphosphaturia |
ORPHA:352540 |
| Addison Disease |
|
Type I diabetes mellitus, Failure to thrive, Hypoglycemia, Decreased urinary potassium, Weight lo... |
ORPHA:85138 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia |
ORPHA:89937 |
| Pearson Marrow-Pancreas Syndrome |
|
3-Methylglutaric aciduria, Type I diabetes mellitus, Failure to thrive, Renal Fanconi syndrome, H... |
OMIM:557000 |
| Arima Syndrome |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R... |
OMIM:243910 |
| Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Hypernatriuria, Abnormal urine potassium concentration, Cachexia, Weight loss,... |
ORPHA:275761 |
| Familial Hyperaldosteronism Type Iii |
|
Hypercalciuria |
ORPHA:251274 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Nephrocalcinosis, Hypercalciuria, Hyperphosphaturia |
OMIM:156400 |
| Primary Unilateral Adrenal Hyperplasia |
|
Increased urinary potassium |
ORPHA:231580 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Renal salt wasting, Long penis, Increased urinary 11-deoxycorticosterone level |
ORPHA:90795 |
| Gaisböck Syndrome |
|
Nephrocalcinosis, Hypernatriuria, Obesity, Overweight, Diabetes mellitus |
ORPHA:90041 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Renal phosphate wasting, Renal tubular dysfunction |
OMIM:307800 |
| Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia, Urinary retention, Obesity, Decreased urinary potassium, Weight loss |
ORPHA:79102 |
| Leprechaunism |
|
Postprandial hyperglycemia, Insulin resistance, Nephrocalcinosis, Long penis, Failure to thrive, ... |
ORPHA:508 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Increased urinary potassium |
ORPHA:231625 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Renal phosphate wasting |
OMIM:612089 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Horseshoe kidney, Hyperphosphaturia |
OMIM:163200 |
| Mccune-Albright Syndrome |
|
Renal phosphate wasting, Hyperphosphaturia, Renal tubular dysfunction |
ORPHA:562 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Long penis, Failure to thrive, Hypernatriuria, Weight loss, Urogenital sinus anomaly, Renal salt ... |
ORPHA:90794 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Nephrocalcinosis, Abnormality of the urinary system, Obesity, Renal cyst, Hypercalciuria, Congeni... |
ORPHA:369837 |
| Parathyroid Carcinoma |
|
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... |
ORPHA:143 |
| Wilson Disease |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Nephrolithiasis, Protein... |
OMIM:277900 |
| Opsismodysplasia |
|
Renal phosphate wasting |
OMIM:258480 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Aminoaciduria, Nephrocalcinosis, Oligosacchariduria, Failure to thrive, Renal insufficiency, Neph... |
ORPHA:534 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... |
ORPHA:99880 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal phosphate wasting, Abnormality of renal excretion, Hyperphosphaturia |
ORPHA:289176 |
| Lowe Oculocerebrorenal Syndrome |
|
Aminoaciduria, Failure to thrive, Low-molecular-weight proteinuria, Stage 5 chronic kidney diseas... |
OMIM:309000 |
| Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary norepinephrine level, Elevated urinary vanillylmandelic acid, Nephrolithiasis, E... |
ORPHA:653 |
| Beckwith-Wiedemann Syndrome |
|
Nephropathy, Hypoglycemia, Obesity, Large for gestational age, Vesicoureteral reflux, Nephroblast... |
ORPHA:116 |
| X-Linked Hypophosphatemia |
|
Renal phosphate wasting, Hypocalciuria |
ORPHA:89936 |
| Williams-Beuren Syndrome |
|
Renal hypoplasia, Enuresis, Nephrocalcinosis, Recurrent urinary tract infections, Failure to thri... |
OMIM:194050 |
| Semilobar Holoprosencephaly |
|
Short stature, Growth delay, Hydrocephalus, Neural tube defect |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Short stature, Growth delay, Hydrocephalus, Neural tube defect |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Short stature, Growth delay, Hydrocephalus, Neural tube defect |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Short stature, Growth delay, Hydrocephalus, Neural tube defect |
ORPHA:93924 |
| Williams Syndrome |
|
Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Failure to thrive in infa... |
ORPHA:904 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Nephrocalcinosis, Hypercalciuria, Renal dysplasia |
OMIM:300990 |
| Schinzel-Giedion Syndrome |
|
Neural tube defect, Umbilical hernia |
ORPHA:798 |
| Cystic Fibrosis |
|
Hypercalciuria, Failure to thrive |
OMIM:219700 |
| Osteogenesis Imperfecta |
|
Hypercalciuria, Small for gestational age, Nephrolithiasis |
ORPHA:666 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hypercalciuria, Weight loss |
OMIM:181000 |
| Multiple Endocrine Neoplasia Type 1 |
|
Hypercalciuria, Weight loss, Nephrolithiasis |
ORPHA:652 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Hypophosphaturia, Hypocalciuria |
ORPHA:73223 |
| Sarcoidosis |
|
Nephrocalcinosis, Renal insufficiency, Nephrolithiasis, Weight loss, Hypercalciuria, Tubulointers... |
ORPHA:797 |
| Generalized Arterial Calcification Of Infancy |
|
Nephrocalcinosis, Cortical nephrocalcinosis, Failure to thrive in infancy, Medullary nephrocalcin... |
ORPHA:51608 |
