Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Hypomagnesemia 3, Renal |
|
Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Hematuria, Renal calcium wasting, Ne... |
OMIM:248250 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Nephrocalcinosis, Renal calcium wasting, Nephrolithiasis, Recurrent urinary tract infections, Chr... |
OMIM:248190 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia |
|
Hypermagnesiuria, Obesity |
ORPHA:34527 |
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability |
|
Renal potassium wasting, Renal magnesium wasting, Nephrocalcinosis |
ORPHA:564178 |
Hypercalciuria, Absorptive, 2 |
|
Hypercalciuria, Calcium oxalate nephrolithiasis |
OMIM:143870 |
Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Failure to thrive, Proximal tubulopathy, Decr... |
ORPHA:18 |
Hypomagnesemia 2, Renal |
|
Hypocalciuria, Renal insufficiency, Renal magnesium wasting |
OMIM:154020 |
Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Renal potassium wasting, Polyuria, Renal magnesium wasting |
OMIM:618314 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... |
OMIM:308990 |
Idiopathic Hypercalciuria |
|
Hypercalciuria, Renal calcium wasting, Calcium oxalate nephrolithiasis |
ORPHA:2197 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... |
OMIM:310468 |
Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Renal salt wasting |
OMIM:201710 |
Hypercalcemia, Infantile, 2 |
|
Nephrocalcinosis, Failure to thrive, Renal phosphate wasting, Medullary nephrocalcinosis, Hyperca... |
OMIM:616963 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
East Syndrome |
|
Renal salt wasting, Renal sodium wasting, Abnormal urinary electrolyte concentration, Enuresis, R... |
ORPHA:199343 |
Tubular Renal Disease-Cardiomyopathy Syndrome |
|
Nephrocalcinosis, Abnormal renal resorption, Hyperprostaglandinuria, Hypermagnesiuria, Hypercalci... |
ORPHA:73224 |
Autosomal Dominant Hypocalcemia |
|
Hypermagnesiuria, Hypercalciuria, Nephrocalcinosis |
ORPHA:428 |
Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Renal phosphate wasting |
OMIM:241519 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hyperphosphaturia, Hypercalciuria, Renal phosphate wasting, Nephrolithiasis |
OMIM:612286 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolit... |
ORPHA:405 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria |
OMIM:617993 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Failure to thrive, Renal tubular acidosis, Hypercalciuria, Nephrocalcinosis |
OMIM:239199 |
Gitelman Syndrome |
|
Failure to thrive, Hypocalciuria, Renal potassium wasting, Enuresis, Polyuria, Nocturia, Renal ma... |
OMIM:263800 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hyperphosphaturia, Renal phosphate wasting, Nephrolithiasis |
OMIM:612287 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypercalciuria |
OMIM:242050 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Aminoaciduria, Proteinuria, Glycosuria |
OMIM:615605 |
Fanconi Renotubular Syndrome 2 |
|
Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Hypercalciuria, Renal insufficiency |
OMIM:613388 |
Dent Disease 2 |
|
Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Chronic kidney disease,... |
OMIM:300555 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Nephrocalcinosis, Glycosuria, Large for gestational age, Aminoaciduria, Protei... |
OMIM:616026 |
Hereditary Renal Hypouricemia |
|
Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, Decreased glome... |
ORPHA:94088 |
Adrenocortical Hypofunction, Chronic Primary Congenital |
|
Hypernatriuria |
OMIM:103230 |
Hypokalemic Tubulopathy And Deafness |
|
Renal salt wasting |
OMIM:619406 |
Craniorachischisis |
|
Sirenomelia, Myelomeningocele, Anencephaly, Cervical spina bifida, Spinal dysraphism |
ORPHA:63260 |
Bartter Syndrome, Type 3 |
|
Renal salt wasting, Increased urinary potassium, Hypocalciuria, Renal potassium wasting, Hyperchl... |
OMIM:607364 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Increased urinary potassium, Failure to thrive, Decreased glomerular filtration rate, Renal insuf... |
OMIM:613090 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Failure to thrive, Hypercalciuria, Distal renal tubular acidosis, Nephrocalcinosis |
OMIM:602722 |
Dent Disease 1 |
|
Hyperphosphaturia, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Nephrolithiasis, Glycos... |
OMIM:300009 |
Aplasia Cutis Congenita |
|
Spinal dysraphism |
ORPHA:1114 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Renal salt wasting, Failure to thrive |
OMIM:614736 |
Autosomal Dominant Polycystic Kidney Disease |
|
Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Nephrolithiasis, Sta... |
ORPHA:730 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Increased urinary potassium, Failure to thrive, Decreased glomerular filtration rate, Tubulointer... |
OMIM:602522 |
Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Failure to thrive, Weight loss, Nephrolithiasis, Hypercalciuria, Polyuria |
OMIM:143880 |
Dent Disease |
|
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... |
ORPHA:1652 |
Primary Fanconi Renotubular Syndrome |
|
Generalized aminoaciduria, Renal sodium wasting, Bicarbonate-wasting renal tubular acidosis, Incr... |
ORPHA:3337 |
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 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De... |
OMIM:174000 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Failure to thrive, Chronic kidney disease, Proteinuria, Hyperechogenic kidneys, Renal salt wastin... |
OMIM:613845 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Renal salt wasting, Failure to thrive |
OMIM:610600 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Corticosterone Methyloxidase Type I Deficiency |
|
Renal salt wasting, Failure to thrive |
OMIM:203400 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular fil... |
ORPHA:85450 |
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Renal salt wasting, Renal sodium wasting, Hypocalciuria, Renal potassium wasting, Enuresis, Polyuria |
OMIM:612780 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Renal salt wasting, Failure to thrive |
OMIM:264350 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Nephrocalcinosis, Proximal tubulopathy, Nephrolithiasis, Renal phosphate wasting, Low-molecular-w... |
OMIM:300554 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypocalciuria, Hypercalciuria, Nephrolithiasis |
OMIM:145980 |
Cranioectodermal Dysplasia 1 |
|
Chronic kidney disease, Tubulointerstitial nephritis, Renal magnesium wasting |
OMIM:218330 |
Familial Isolated Hyperparathyroidism |
|
Hyperphosphaturia, Hypercalciuria, Renal insufficiency, Nephrocalcinosis |
ORPHA:99879 |
Juvenile Nephropathic Cystinosis |
|
Renal Fanconi syndrome, Failure to thrive, Proximal tubulopathy, Stage 5 chronic kidney disease, ... |
ORPHA:411634 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Aminoaciduria, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis, F... |
ORPHA:47159 |
Aminopterin/Methotrexate Embryofetopathy |
|
Meningocele, Intrauterine growth retardation, Anencephaly, Short stature, Holoprosencephaly, Hydr... |
ORPHA:1908 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Micropenis, Hypercalciuria |
OMIM:614732 |
Familial Hypoaldosteronism |
|
Renal salt wasting, Decreased urinary potassium, Proximal renal tubular acidosis, Failure to thrive |
ORPHA:427 |
Apparent Mineralocorticoid Excess |
|
Abnormal urine sodium concentration, Renal insufficiency, Failure to thrive, Nephrocalcinosis |
ORPHA:320 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Generalized aminoaciduria, Renal tubular dysfunction, Failure to thrive, Glyco... |
OMIM:227810 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hypernatriuria |
OMIM:300539 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Generalized aminoaciduria, Nephrocalcinosis, Failure to thrive, Renal tubular ... |
ORPHA:2088 |
Bartter Syndrome, Type 1, Antenatal |
|
Small for gestational age, Nephrocalcinosis, Increased urinary potassium, Failure to thrive, Hype... |
OMIM:601678 |
Late-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Renal sodium wasting |
ORPHA:556037 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Failure to thrive, Glycosur... |
OMIM:220110 |
Alg3-Cdg |
|
Neural tube defect |
ORPHA:79321 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Failure to thrive, Glycosur... |
ORPHA:436271 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Renal phosphate wasting |
OMIM:193100 |
Hypocalcemia, Autosomal Dominant 1 |
|
Decreased glomerular filtration rate, Nephrolithiasis, Nephrocalcinosis, Hypercalciuria |
OMIM:601198 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithi... |
OMIM:145981 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hyperphosphaturia, Medullary nephrocalcinosis |
OMIM:613312 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Renal tubular dysfunction, Failure to thrive, Renal phosphate wasting, Calcium nephrolithiasis, H... |
OMIM:241530 |
Infantile Bartter Syndrome With Sensorineural Deafness |
|
Small for gestational age, Nephrocalcinosis, Increased urinary potassium, Chronic kidney disease,... |
ORPHA:89938 |
Wilson Disease |
|
Hyperphosphaturia, Renal tubular dysfunction, Aminoaciduria, Nephrolithiasis, Glycosuria, Hyperca... |
OMIM:277900 |
Early-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Renal sodium wasting |
ORPHA:556030 |
Senior-Boichis Syndrome |
|
Renal hypoplasia, Abnormal renal insterstitial morphology, Thickening of the tubular basement mem... |
ORPHA:84081 |
Enamel-Renal Syndrome |
|
Nephrocalcinosis, Hypophosphaturia, Hypocalciuria, Impaired renal concentrating ability, Nephropa... |
ORPHA:1031 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hyperphosphaturia, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria |
ORPHA:157215 |
Bartter Syndrome, Type 2, Antenatal |
|
Small for gestational age, Nephrocalcinosis, Increased urinary potassium, Failure to thrive, Hype... |
OMIM:241200 |
Posterior Meningocele |
|
Meningocele, Occipital meningocele, Neural tube defect, Hydrocephalus, Lipomyelomeningocele |
ORPHA:268810 |
Hypophosphatasia, Infantile |
|
Elevated urine pyrophosphate, Nephrocalcinosis, Failure to thrive, Phosphoethanolaminuria, Hyperc... |
OMIM:241500 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypercalciuria |
ORPHA:2239 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Medullary nephrocalcinosis, Polyuria, Hypercalciuria |
OMIM:300971 |
Adrenal Hypoplasia, Congenital |
|
Renal salt wasting, Failure to thrive |
OMIM:300200 |
Primary Hyperoxaluria |
|
Nephrocalcinosis, Hyperoxaluria, Calcium oxalate nephrolithiasis, Hematuria, Failure to thrive, A... |
ORPHA:416 |
Hyperparathyroidism, Neonatal Severe |
|
Hyperphosphaturia, Aminoaciduria, Failure to thrive, Hypercalciuria, Polyuria |
OMIM:239200 |
Familial Glucocorticoid Deficiency |
|
Failure to thrive, Weight loss, Recurrent urinary tract infections, Renal salt wasting, Hypernatr... |
ORPHA:361 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypercalciuria, Polyuria |
OMIM:613677 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Renal Fanconi syndrome, Renal tubular dysfunction, Failure to thrive, Abnormal... |
ORPHA:411629 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Multiple small medullary renal cysts, Parathormone-independent increased renal tubular calcium re... |
OMIM:600740 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Nephrocalcinosis, Renal cyst, Large for gestational age, Ureteral stenosis, Hypercalciuria |
OMIM:615398 |
Helix Syndrome |
|
Hypocalciuria, Polyuria, Renal insufficiency, Nephrolithiasis |
OMIM:617671 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Renal phosphate wasting, Renal tubular dysfunction |
OMIM:307800 |
Oculoskeletodental Syndrome |
|
Hypercalciuria, Renal agenesis, Mucopolysacchariduria, Small for gestational age |
OMIM:618440 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia |
ORPHA:89937 |
Fructose Intolerance, Hereditary |
|
Hyperphosphaturia, Transient aminoaciduria, Failure to thrive, Proximal tubulopathy, Proximal ren... |
OMIM:229600 |
Oncogenic Osteomalacia |
|
Hyperphosphaturia, Renal phosphate wasting |
ORPHA:352540 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypospadias, Renal salt wasting, Penoscrotal hypospadias, Failure to thrive |
ORPHA:90791 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Spinal dysraphism, Short stature |
OMIM:617660 |
Familial Hyperaldosteronism Type Iii |
|
Hypercalciuria |
ORPHA:251274 |
Acute Adrenal Insufficiency |
|
Failure to thrive, Weight loss, Decreased urinary potassium, Renal salt wasting, Renal insufficiency |
ORPHA:95409 |
Iniencephaly |
|
Myelomeningocele, Anencephaly, Holoprosencephaly, Rhizomelia, Spina bifida, Hydrocephalus, Spinal... |
ORPHA:63259 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hyperphosphaturia, Hypercalciuria, Nephrocalcinosis |
OMIM:156400 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Failure to thrive, Midshaft hypospadias, Urogenital sinus anomaly, Abnormal urine potassium conce... |
ORPHA:168558 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Spinal dysraphism |
OMIM:612918 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Failure to thrive, Midshaft hypospadias, Urogenital sinus anomaly, Abnormal urine potassium conce... |
ORPHA:289548 |
Primary Unilateral Adrenal Hyperplasia |
|
Increased urinary potassium |
ORPHA:231580 |
Hypophosphatemic Rickets |
|
Hyperphosphaturia, Nephrocalcinosis, Failure to thrive, Hypocalciuria, Renal phosphate wasting, H... |
ORPHA:437 |
Lysosomal Acid Lipase Deficiency |
|
Cachexia, Failure to thrive, Weight loss, Abnormal urine potassium concentration, Renal salt wast... |
ORPHA:275761 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Renal phosphate wasting |
OMIM:612089 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Renal salt wasting, Long penis, Increased urinary 11-deoxycorticosterone level |
ORPHA:90795 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Increased urinary potassium |
ORPHA:231625 |
Gitelman Syndrome |
|
Renal Fanconi syndrome, Focal segmental glomerulosclerosis, Tubulointerstitial nephritis, Failure... |
ORPHA:358 |
Opsismodysplasia |
|
Renal phosphate wasting |
OMIM:258480 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hyperphosphaturia, Horseshoe kidney |
OMIM:163200 |
Mccune-Albright Syndrome |
|
Hyperphosphaturia, Renal phosphate wasting, Renal tubular dysfunction |
ORPHA:562 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Nephrocalcinosis, Abnormality of the urinary system, Renal dysplasia, Congenital megaureter, Rena... |
ORPHA:369837 |
Addison Disease |
|
Renal salt wasting, Weight loss, Decreased urinary potassium, Failure to thrive |
ORPHA:85138 |
Parathyroid Carcinoma |
|
Nephrocalcinosis, Weight loss, Renal cyst, Nephrolithiasis, Renal hamartoma, Renal insufficiency,... |
ORPHA:143 |
Thyrotoxic Periodic Paralysis |
|
Obesity, Weight loss, Decreased urinary potassium, Urinary retention |
ORPHA:79102 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormality of renal excretion, Renal phosphate wasting, Hyperphosphaturia |
ORPHA:289176 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary epinephrine, Elevated urinary vanillylmandelic acid, Elevated urinary catecholam... |
ORPHA:653 |
Lowe Oculocerebrorenal Syndrome |
|
Hyperphosphaturia, Renal Fanconi syndrome, Failure to thrive, Proximal renal tubular acidosis, Am... |
OMIM:309000 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Elevated urinary epinephrine, Long penis, Failure to thrive, Weight loss, Urogenital sinus anomal... |
ORPHA:90794 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephrocalcinosis, Renal cyst, Nephrolithiasis, Renal hamartoma, Renal insufficiency, Hypercalciur... |
ORPHA:99880 |
Gaisböck Syndrome |
|
Obesity, Overweight, Hypernatriuria, Nephrocalcinosis |
ORPHA:90041 |
Oculocerebrorenal Syndrome Of Lowe |
|
Nephrocalcinosis, Failure to thrive, Hematuria, Nephrolithiasis, Proximal renal tubular acidosis,... |
ORPHA:534 |
Semilobar Holoprosencephaly |
|
Hydrocephalus, Growth delay, Short stature, Neural tube defect |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Hydrocephalus, Growth delay, Short stature, Neural tube defect |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Hydrocephalus, Growth delay, Short stature, Neural tube defect |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Hydrocephalus, Growth delay, Short stature, Neural tube defect |
ORPHA:93924 |
X-Linked Hypophosphatemia |
|
Hypocalciuria, Renal phosphate wasting |
ORPHA:89936 |
Schinzel-Giedion Syndrome |
|
Umbilical hernia, Neural tube defect |
ORPHA:798 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Renal dysplasia, Hypercalciuria, Nephrocalcinosis |
OMIM:300990 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Congenital megaureter, Nephrolithiasis, Large for gestational age, Multiple... |
ORPHA:116 |
Leprechaunism |
|
Long penis, Nephrocalcinosis, Failure to thrive, Decreased body weight, Hypercalciuria, Enlarged ... |
ORPHA:508 |
Williams Syndrome |
|
Renal hypoplasia, Failure to thrive in infancy, Hypoplasia of penis, Urethral stenosis, Renovascu... |
ORPHA:904 |
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation |
|
Hypospadias, Hypercalciuria, Microscopic nephrocalcinosis |
OMIM:219721 |
Williams-Beuren Syndrome |
|
Renal hypoplasia, Failure to thrive in infancy, Urethral stenosis, Nephrocalcinosis, Pelvic kidne... |
OMIM:194050 |
Osteogenesis Imperfecta |
|
Hypercalciuria, Nephrolithiasis, Small for gestational age |
ORPHA:666 |
Cystic Fibrosis |
|
Failure to thrive, Hypercalciuria |
OMIM:219700 |
Sarcoidosis, Susceptibility To, 1 |
|
Weight loss, Hypercalciuria |
OMIM:181000 |
Multiple Endocrine Neoplasia Type 1 |
|
Weight loss, Hypercalciuria, Nephrolithiasis |
ORPHA:652 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Hypocalciuria, Hypophosphaturia |
ORPHA:73223 |
Sarcoidosis |
|
Tubulointerstitial nephritis, Nephrocalcinosis, Weight loss, Nephrolithiasis, Hypercalciuria, Ren... |
ORPHA:797 |
Generalized Arterial Calcification Of Infancy |
|
Hyperphosphaturia, Failure to thrive in infancy, Nephrocalcinosis, Medullary nephrocalcinosis, Co... |
ORPHA:51608 |