Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Cataract 47 |
|
Glycosuria, Cataract, Microcornea |
OMIM:612018 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Galactosemia Ii |
|
Cataract, Galactosuria |
OMIM:230200 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Hypermagnesiuria, Astigmatism... |
OMIM:248190 |
Corneal Dystrophy, Groenouw Type I |
|
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy |
OMIM:121900 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Cataract |
OMIM:619813 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Hypomagnesemia 3, Renal |
|
Hypocitraturia, Hypercitraturia, Recurrent urinary tract infections, Hypermagnesiuria, Hematuria,... |
OMIM:248250 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Nephrocalcinosis, Renal potassium wasting, Renal magnesium wasting |
ORPHA:564178 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Persistent pupillary membrane, Developmental cataract |
OMIM:178900 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Familial Hypocalciuric Hypercalcemia |
|
Reduced ratio of renal calcium clearance to creatinine clearance, Parathormone-independent increa... |
ORPHA:405 |
Hypercalciuria, Absorptive, 2 |
|
Calcium oxalate nephrolithiasis, Hypercalciuria |
OMIM:143870 |
Hypomagnesemia 2, Renal |
|
Renal insufficiency, Hypocalciuria, Renal magnesium wasting |
OMIM:154020 |
Medullary Sponge Kidney |
|
Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis |
ORPHA:1309 |
Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Corneal opacity, Ectopia lentis |
OMIM:613086 |
Cataract-Microcornea Syndrome |
|
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Nephrocalcinosis, Polyuria, Renal potassium wasting, Renal magnesium wasting |
OMIM:618314 |
Idiopathic Hypercalciuria |
|
Calcium oxalate nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsor... |
ORPHA:2197 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Beta 2-microglobulinur... |
OMIM:308990 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract, Renal tubular dysfunction |
ORPHA:1380 |
Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Renal salt wasting |
OMIM:201710 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul... |
OMIM:310468 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract |
OMIM:610092 |
East Syndrome |
|
Renal sodium wasting, Renal salt wasting, Abnormal urinary electrolyte concentration, Renal magne... |
ORPHA:199343 |
Distal Renal Tubular Acidosis |
|
Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Hypermagnesiuria, Hyperphosphaturia, Renal c... |
ORPHA:18 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract |
OMIM:600881 |
Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
Exfoliation Syndrome |
|
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... |
OMIM:177650 |
Anterior Segment Dysgenesis 8 |
|
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... |
OMIM:617319 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Cataract 1, Multiple Types |
|
Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea |
OMIM:116200 |
Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Medullary nephrocalcinosis, Polyuria, Nephrocalcinosis, Hypercalciuria |
OMIM:616963 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypercalciuria |
OMIM:612286 |
Cataract 3, Multiple Types |
|
Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Alport Syndrome 2, Autosomal Recessive |
|
Glomerular basement membrane lamellation, Corneal erosion, Nephrotic syndrome, Stage 5 chronic ki... |
OMIM:203780 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis |
ORPHA:1068 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria |
OMIM:617993 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Hypermagnesiuria, Nephrocalcinosis, Hypercalciuria, Hyperprost... |
ORPHA:73224 |
Aniridia 2 |
|
Lens subluxation, Cataract, Iris coloboma, Aniridia |
OMIM:617141 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis |
OMIM:612287 |
Cataract 5, Multiple Types |
|
Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract |
OMIM:116800 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypercalciuria |
OMIM:242050 |
Cataract 20, Multiple Types |
|
Cortical cataract, Sutural cataract, Lamellar cataract, Membranous cataract |
OMIM:116100 |
Gitelman Syndrome |
|
Nocturia, Polyuria, Hypocalciuria, Renal magnesium wasting, Enuresis, Renal potassium wasting |
OMIM:263800 |
Ectopia Lentis Et Pupillae |
|
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
Peters Anomaly |
|
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... |
ORPHA:708 |
Fanconi Renotubular Syndrome 2 |
|
Renal phosphate wasting, Proximal tubulopathy, Glycosuria, Generalized aminoaciduria, Decreased g... |
OMIM:613388 |
Dent Disease 2 |
|
Aminoaciduria, Proximal tubulopathy, Low-molecular-weight proteinuria, Nephrocalcinosis, Hypercal... |
OMIM:300555 |
Autosomal Dominant Hypocalcemia |
|
Nephrocalcinosis, Hypercalciuria, Hypermagnesiuria |
ORPHA:428 |
Hereditary Renal Hypouricemia |
|
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... |
ORPHA:94088 |
Cataract 39, Multiple Types |
|
Anterior polar cataract, Lamellar cataract, Developmental cataract |
OMIM:615188 |
Fanconi Renotubular Syndrome 3 |
|
Glycosuria, Aminoaciduria, Hyperphosphaturia, Low-molecular-weight proteinuria |
OMIM:615605 |
Dent Disease |
|
Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, Re... |
ORPHA:1652 |
Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Lacticaciduria, Low-mole... |
OMIM:134600 |
Anterior Segment Dysgenesis 1 |
|
Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif... |
OMIM:107250 |
Hypokalemic Tubulopathy And Deafness |
|
Renal salt wasting |
OMIM:619406 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract |
OMIM:116300 |
Cataract 18 |
|
Nuclear cataract |
OMIM:610019 |
Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
Bartter Syndrome, Type 3 |
|
Renal salt wasting, Hyperchloriduria, Increased urinary potassium, Polyuria, Hypocalciuria, Impai... |
OMIM:607364 |
Dent Disease 1 |
|
Renal phosphate wasting, Aminoaciduria, Proximal tubulopathy, Stage 5 chronic kidney disease, Gly... |
OMIM:300009 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Nephrocalcinosis, Renal tubular acidosis, Hypercalciuria |
OMIM:239199 |
Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... |
ORPHA:67043 |
Anterior Segment Dysgenesis 2 |
|
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... |
OMIM:610256 |
Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit... |
ORPHA:730 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Nuclear cataract, Anterior subcapsular cataract |
OMIM:605387 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
Hypercalcemia, Infantile, 1 |
|
Medullary nephrocalcinosis, Polyuria, Nephrocalcinosis, Nephrolithiasis, Hypercalciuria |
OMIM:143880 |
Cataract 15, Multiple Types |
|
Cortical cataract, Lamellar cataract, Nuclear cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Cortical cataract, Lamellar cataract, Nuclear cataract |
OMIM:611391 |
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 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Renal salt wasting, Hypernatriuria, Hyperchloriduria, Increased urinary potassium, Polyuria, Decr... |
OMIM:613090 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Renal cortic... |
OMIM:174000 |
Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Hyperuricosuria, Glycosuria, Hyperphosphaturia, Bicarbonate-wasting renal tubular ... |
ORPHA:47159 |
Juvenile Nephropathic Cystinosis |
|
Abnormal urine potassium concentration, Aminoaciduria, Proximal tubulopathy, Renal phosphate wast... |
ORPHA:411634 |
Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Hyperuricosuria, Stage 5 chronic kidney disease, Renal sodium wasting, G... |
ORPHA:3337 |
Familial Isolated Hyperparathyroidism |
|
Nephrocalcinosis, Hyperphosphaturia, Renal insufficiency, Hypercalciuria |
ORPHA:99879 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Nephrocalcinosis, Hypercalciuria, Distal renal tubular acidosis |
OMIM:602722 |
Cranioectodermal Dysplasia 1 |
|
Tubulointerstitial nephritis, Stage 1 chronic kidney disease, Stage 5 chronic kidney disease, Ren... |
OMIM:218330 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Proximal tubulopathy, Low-molecular-weight proteinuria, Nephrocalcinosis... |
OMIM:300554 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypocalciuria, Nephrolithiasis, Hypercalciuria |
OMIM:145980 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Renal insufficiency, Nephrotic syndrome, Ren... |
ORPHA:85450 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Impaired renal concentrating ability, Renal salt wasting, Hypernatriuria, Hyperchloriduria, Reduc... |
OMIM:602522 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyposthenuria, Hypernatriuria |
OMIM:300539 |
Apparent Mineralocorticoid Excess |
|
Nephrocalcinosis, Renal sodium wasting, Renal insufficiency, Abnormal urine sodium concentration |
ORPHA:320 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Renal sodium wasting, Renal salt wasting, Polyuria, Hypocalciuria, Enuresis, Renal potassium wasting |
OMIM:612780 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Renal salt wasting, Polyuria, Proteinuria, Hyperechogenic kidneys, Chronic kidney disease |
OMIM:613845 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Nephrocalcinosis, Proteinuria |
OMIM:616026 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Renal salt wasting |
OMIM:610600 |
Corticosterone Methyloxidase Type I Deficiency |
|
Renal salt wasting |
OMIM:203400 |
Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Corneal crystals, Abnormal tubulointerstitial morph... |
ORPHA:411629 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Renal salt wasting |
OMIM:264350 |
Hypocalcemia, Autosomal Dominant 1 |
|
Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis, Hypercalciuria |
OMIM:601198 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Micropenis, Hypercalciuria |
OMIM:614732 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Renal phosphate wasting |
OMIM:193100 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithi... |
OMIM:145981 |
Enamel-Renal Syndrome |
|
Impaired renal concentrating ability, Nephrocalcinosis, Hypophosphaturia, Nephropathy, Hypocalciu... |
ORPHA:1031 |
Fanconi-Bickel Syndrome |
|
Renal tubular acidosis, Glycosuria, Hyperphosphaturia, Generalized aminoaciduria, Nephropathy, Ne... |
ORPHA:2088 |
Senior-Boichis Syndrome |
|
Abnormal renal insterstitial morphology, Stage 5 chronic kidney disease, Renal corticomedullary c... |
ORPHA:84081 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hyperphosphaturia, Nephrolithiasis, Medullary nephrocalcinosis, Hypercalciuria |
ORPHA:157215 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hyperphosphaturia, Medullary nephrocalcinosis |
OMIM:613312 |
Corticosteroid-Binding Globulin Deficiency |
|
Decreased urinary potassium |
OMIM:611489 |
Familial Hypoaldosteronism |
|
Decreased urinary potassium, Renal salt wasting, Proximal renal tubular acidosis |
ORPHA:427 |
Cataract 23, Multiple Types |
|
Lamellar cataract |
OMIM:610425 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyposthenuria, Hyperprostaglandinuria, Renal salt wasting, Hyperchloriduria, Increased urinary po... |
OMIM:601678 |
Fanconi-Bickel Syndrome |
|
Glycosuria, Renal tubular dysfunction, Hyperphosphaturia, Generalized aminoaciduria |
OMIM:227810 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Renal phosphate wasting, Renal tubular dysfunction, Hypercalciuria, Calcium nephrolithiasis |
OMIM:241530 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypercalciuria |
ORPHA:2239 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Polyuria, Medullary nephrocalcinosis, Hypercalciuria |
OMIM:300971 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Proteinuria, Renal Fanconi syndrome, Renal tubular ... |
ORPHA:436271 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Renal salt wasting |
OMIM:614736 |
Hyperaldosteronism, Familial, Type Iii |
|
Polyuria, Hypercalciuria |
OMIM:613677 |
Bartter Syndrome Type 4 |
|
Impaired renal concentrating ability, Acute kidney injury, Stage 5 chronic kidney disease, Renal ... |
ORPHA:89938 |
Oculoskeletodental Syndrome |
|
Hypercalciuria, Renal agenesis, Mucopolysacchariduria, Developmental cataract |
OMIM:618440 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Proteinuria, Renal Fanconi syndrome, Renal tubular ... |
OMIM:220110 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyposthenuria, Hyperprostaglandinuria, Renal salt wasting, Hyperchloriduria, Increased urinary po... |
OMIM:241200 |
Late-Onset Familial Hypoaldosteronism |
|
Renal sodium wasting |
ORPHA:556037 |
Hypophosphatasia, Infantile |
|
Nephrocalcinosis, Phosphoethanolaminuria, Hypercalciuria, Elevated urine pyrophosphate |
OMIM:241500 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Multiple small medullary renal cysts, Parathormone-independent increased renal tubular calcium re... |
OMIM:600740 |
Primary Hyperoxaluria |
|
Elevated urine glycolate, Calcium oxalate nephrolithiasis, Stage 5 chronic kidney disease, Hematu... |
ORPHA:416 |
Early-Onset Familial Hypoaldosteronism |
|
Renal sodium wasting |
ORPHA:556030 |
Hyperparathyroidism, Neonatal Severe |
|
Aminoaciduria, Hyperphosphaturia, Polyuria, Hypercalciuria |
OMIM:239200 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Horseshoe kidney, Hyperphosphaturia, Corneal opacity |
OMIM:163200 |
Adrenal Hypoplasia, Congenital |
|
Renal salt wasting |
OMIM:300200 |
Helix Syndrome |
|
Renal insufficiency, Polyuria, Hypocalciuria, Nephrolithiasis |
OMIM:617671 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria, Hyperphosphatu... |
OMIM:219800 |
Familial Glucocorticoid Deficiency |
|
Hypernatriuria, Renal salt wasting, Recurrent urinary tract infections |
ORPHA:361 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia |
ORPHA:89937 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hydroureter, Renal cyst, Ureteral stenosis, Nephrocalcinosis, Hypercalciuria |
OMIM:615398 |
Oncogenic Osteomalacia |
|
Renal phosphate wasting, Hyperphosphaturia |
ORPHA:352540 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Renal phosphate wasting, Renal tubular dysfunction |
OMIM:307800 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Nephrocalcinosis, Hyperphosphaturia, Hypercalciuria |
OMIM:156400 |
Arima Syndrome |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal sodium wasting, Polycystic kidney dy... |
OMIM:243910 |
Primary Unilateral Adrenal Hyperplasia |
|
Increased urinary potassium |
ORPHA:231580 |
Familial Hyperaldosteronism Type Iii |
|
Hypercalciuria |
ORPHA:251274 |
Wilson Disease |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Increased urinary copper... |
OMIM:277900 |
Lowe Oculocerebrorenal Syndrome |
|
Aminoaciduria, Stage 5 chronic kidney disease, Corneal scarring, Hyperphosphaturia, Dense posteri... |
OMIM:309000 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased urinary 11-deoxycorticosterone level, Renal salt wasting, Long penis |
ORPHA:90795 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypospadias, Penoscrotal hypospadias, Renal salt wasting |
ORPHA:90791 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinuria, Hypercalciuria, Increased urine deoxypyridinoline level |
OMIM:239000 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Increased urinary potassium |
ORPHA:231625 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Abnormal urine potassium concentration, Urogenital sinus anomaly, Midshaft hypospadias, Hypernatr... |
ORPHA:168558 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Renal phosphate wasting |
OMIM:612089 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Abnormal urine potassium concentration, Urogenital sinus anomaly, Midshaft hypospadias, Hypernatr... |
ORPHA:289548 |
Hypophosphatemic Rickets |
|
Renal phosphate wasting, Hyperphosphaturia, Hypocalciuria, Nephrocalcinosis, Renal insufficiency,... |
ORPHA:437 |
Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Hyperphosphaturia, Proximal renal tubu... |
OMIM:229600 |
Acute Adrenal Insufficiency |
|
Renal insufficiency, Renal salt wasting, Decreased urinary potassium |
ORPHA:95409 |
Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal pupil morphology, Glomerulopathy, Aminoaciduria, Lentiglobus, Abnormal renal tubule morp... |
ORPHA:534 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Congenital megaureter, Renal dysplasia, Renal cyst, Astigmatism, Abnormality of the urinary syste... |
ORPHA:369837 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary catecholamines, Elevated urinary vanillylmandelic acid, Elevated urinary epineph... |
ORPHA:653 |
Mccune-Albright Syndrome |
|
Renal phosphate wasting, Hyperphosphaturia, Renal tubular dysfunction |
ORPHA:562 |
Lysosomal Acid Lipase Deficiency |
|
Abnormal urine potassium concentration, Hypernatriuria, Renal salt wasting |
ORPHA:275761 |
Pearson Marrow-Pancreas Syndrome |
|
Punctate keratitis, Complex organic aciduria, 3-Methylglutaric aciduria, Renal Fanconi syndrome, ... |
OMIM:557000 |
Gitelman Syndrome |
|
Tubulointerstitial nephritis, Urinary incontinence, Renal tubular acidosis, Nocturia, Focal segme... |
ORPHA:358 |
Opsismodysplasia |
|
Renal phosphate wasting |
OMIM:258480 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Nephrocalcinosis, Cataract, Hypercalciuria, Renal dysplasia |
OMIM:300990 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephroblastoma, Renal hamartoma, Renal cyst, Nephrocalcinosis, Renal insufficiency, Nephrolithias... |
ORPHA:99880 |
Parathyroid Carcinoma |
|
Nephroblastoma, Renal hamartoma, Renal cyst, Nephrocalcinosis, Renal insufficiency, Nephrolithias... |
ORPHA:143 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Renal phosphate wasting, Hyperphosphaturia, Abnormality of renal excretion |
ORPHA:289176 |
Addison Disease |
|
Renal salt wasting, Decreased urinary potassium |
ORPHA:85138 |
Thyrotoxic Periodic Paralysis |
|
Decreased urinary potassium, Urinary retention |
ORPHA:79102 |
X-Linked Hypophosphatemia |
|
Renal phosphate wasting, Hypocalciuria |
ORPHA:89936 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Urogenital sinus anomaly, Elevated urinary epinephrine, Hypernatriuria, Renal salt wasting, Long ... |
ORPHA:90794 |
Williams Syndrome |
|
Aplasia/Hypoplasia of the iris, Abnormality of the bladder, Blue irides, Nephrolithiasis, Vesicou... |
ORPHA:904 |
Gaisböck Syndrome |
|
Nephrocalcinosis, Hypernatriuria |
ORPHA:90041 |
Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Vesicoureteral reflux, Congenital megaureter, Enlarged kidney, Nephropathy, Multi... |
ORPHA:116 |
Sarcoidosis |
|
Tubulointerstitial nephritis, Abnormal conjunctiva morphology, Keratoconjunctivitis sicca, Catara... |
ORPHA:797 |
Williams-Beuren Syndrome |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Nephrocalcinosis, Bladder diverticulum... |
OMIM:194050 |
Osteogenesis Imperfecta |
|
Nephrolithiasis, Corneal opacity, Hypercalciuria |
ORPHA:666 |
Leprechaunism |
|
Nephrocalcinosis, Enlarged kidney, Hypercalciuria, Long penis |
ORPHA:508 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Hypophosphaturia, Hypocalciuria |
ORPHA:73223 |
Multiple Endocrine Neoplasia Type 1 |
|
Nephrolithiasis, Hypercalciuria |
ORPHA:652 |
Sarcoidosis, Susceptibility To, 1 |
|
Hypercalciuria |
OMIM:181000 |
Cystic Fibrosis |
|
Hypercalciuria |
OMIM:219700 |
Generalized Arterial Calcification Of Infancy |
|
Nephrocalcinosis, Hyperphosphaturia, Cortical nephrocalcinosis, Medullary nephrocalcinosis |
ORPHA:51608 |
Encephalitis, Acute, Infection (Viral)-Induced, Susceptibility To, 11 |
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OMIM:619441 |