Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
Ureter, Cancer Of |
|
Neoplasm of the ureter |
OMIM:191600 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Lessel-Kubisch Syndrome |
|
Narrow nasal bridge, Renal insufficiency, Short stature, Renal hypoplasia, Narrow mouth |
OMIM:618681 |
Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
Holzgreve Syndrome |
|
Renal agenesis, Renal hypoplasia |
OMIM:236110 |
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 |
Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... |
OMIM:616963 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Short stature, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechog... |
OMIM:611555 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Incr... |
OMIM:601678 |
Meier-Gorlin Syndrome 8 |
|
Bilateral cryptorchidism, Nephroptosis, Unilateral renal hypoplasia, Thick vermilion border, Narr... |
OMIM:617564 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Humero-Radio-Ulnar Synostosis |
|
Abnormality of the ureter, Abnormality of the upper urinary tract |
ORPHA:3266 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... |
OMIM:614377 |
Hypercalcemia, Infantile, 1 |
|
Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Vomiting, Medullary n... |
OMIM:143880 |
Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Thick lower lip vermilion |
ORPHA:1221 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Short stature, Rhizomelia, Unilateral renal agenesis, Depressed nasal bridge, Chronic kidney dise... |
OMIM:617661 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Short stature, Renal salt wasting, ... |
OMIM:241200 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... |
OMIM:618314 |
Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Burn-Mckeown Syndrome |
|
Short stature, Choanal atresia, Unilateral renal agenesis, Cleft upper lip, Prominent nasal bridg... |
OMIM:608572 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Abnormal salivary gland morphology |
ORPHA:3225 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... |
OMIM:256100 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis |
OMIM:274265 |
Even-Plus Syndrome |
|
Recurrent urinary tract infections, Severe short stature, Bifid nasal tip, Depressed nasal ridge,... |
OMIM:616854 |
Bresek Syndrome |
|
Decreased testicular size, Hypoplasia of the bladder, Aganglionic megacolon, Convex nasal ridge, ... |
ORPHA:85284 |
Hadziselimovic Syndrome |
|
Short stature, Anteverted nares, Prominent nasal bridge, Thick lower lip vermilion, Renal hypopla... |
OMIM:612946 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Thin upper lip vermilion, Proteinuria, Glomerulonephritis, Supernumerary nipple, Short stature, R... |
OMIM:614376 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2487 |
Renal Glucosuria |
|
Glycosuria, Polyuria, Enuresis nocturna |
OMIM:233100 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Proteinuria, Short stature, Cryptorchidism, Chronic kidney disease, Hyperkalemia, O... |
ORPHA:97362 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht... |
OMIM:606966 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Helix Syndrome |
|
Anhidrosis, Renal insufficiency, Hyperparathyroidism, Polyuria, Xerostomia, Nephrolithiasis, Hype... |
OMIM:617671 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
Verheij Syndrome |
|
Thin upper lip vermilion, Renal agenesis, Short stature, Anteverted nares, Broad nasal tip, Renal... |
OMIM:615583 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Renal agenesis, Hypospadias, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Renal hypo... |
ORPHA:171839 |
Split-Hand/Foot Malformation 3 |
|
High palate, Renal hypoplasia, Cleft palate, Narrow mouth |
OMIM:246560 |
Renal And Mullerian Duct Hypoplasia |
|
Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Severe postnatal growth... |
OMIM:266810 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Renal insufficiency, Hypoplasia of penis, Short stature, Abnormality of the dentition, Cryptorchi... |
ORPHA:85321 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal insufficiency, Proteinuria, Short stature, Prominent nasal bridge, Cryptorchidism, Renal hy... |
ORPHA:1307 |
Variant Abeta2M Amyloidosis |
|
Intestinal perforation, Chronic kidney disease, Abnormality of the tongue, Renal amyloidosis, Abn... |
ORPHA:314652 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Dagger-shaped pulp calcifica... |
OMIM:204690 |
Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology, Abnormal urine alpha-ketoglutarate concentration, Short stature |
ORPHA:31 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Prominent nasal bridge, Lacticaciduria, Renal hypoplasia, Wide mouth, Aminoaciduria, 3-Methylglut... |
OMIM:604273 |
Orofaciodigital Syndrome Xvii |
|
Median cleft lip, Short stature, Prominent nose, High, narrow palate, Renal hypoplasia, Micropenis |
OMIM:617926 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypokalemia, Hyperaldosteronism, Decreased circula... |
OMIM:613677 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Anteverted nares, Narrow nasal ridge, Bulbous nose, Renal hypoplasia, Renal cyst, Ureteral agenes... |
OMIM:236500 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Renal insufficiency, Hyposmia, Renal hypoplasia |
OMIM:615996 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Short stature, Polyuria, Megacystis, Vomiting, Constipation, Hypernatremia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Short stature, Polyuria, Megacystis, Vomiting, Constipation, Hypernatremia |
OMIM:304800 |
Type 1 Diabetes Mellitus |
|
Polyuria, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... |
ORPHA:567548 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Long nose, Renal hypoplasia, Renal cyst, Hematuria, Renal tubul... |
OMIM:610205 |
Distal Duplication 6P |
|
Short stature, Prominent nasal bridge, Renal hypoplasia, Thin vermilion border, Abnormality of th... |
ORPHA:1745 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Short stature, Anteverted nares, Depressed nasal bridge, Abnormality of the anterior pituitary, R... |
ORPHA:75389 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Thin upper lip vermilion, Overhanging nasal tip, Unilateral renal agenesis, High, narrow palate, ... |
OMIM:618494 |
Peutz-Jeghers Syndrome |
|
Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Intestinal obstruction, Neoplasm of the n... |
ORPHA:2869 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ... |
OMIM:613845 |
Kimura Disease |
|
Abnormal salivary gland morphology |
ORPHA:482 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Anteverted nares, Cryptorchidism, Depressed nasal ridge, Pseudohypoparathyroidism, Renal hypoplas... |
ORPHA:464288 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Short stature, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal seg... |
OMIM:308990 |
Ureterocele |
|
Duplicated collecting system, Ureterocele |
OMIM:191650 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Short stature, Cryptorchidism, Renal hypoplasia, Downturned corners of mouth, Growth delay, Oligo... |
OMIM:616817 |
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
|
Enlargement of parotid gland |
OMIM:600343 |
Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of penis, Depressed nasal bridge, Cryptorchidism, Wide nasal bridge, Renal hypoplasia |
ORPHA:2256 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Urethral obstruction, Renal dysplasia, Renal hypoplasia, Hypertrophy of the urinary bladder |
OMIM:601389 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Primary hyperparathyroidism, Hypercalciur... |
OMIM:239200 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Short stature, Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Hypocalci... |
OMIM:612780 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... |
OMIM:613550 |
12Q14 Microdeletion Syndrome |
|
Wide nose, Short stature, Intestinal malrotation, Prominent nasal bridge, Ectopic kidney, Abnorma... |
ORPHA:94063 |
Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
Meckel Syndrome 12 |
|
Anteverted nares, Ureteral hypoplasia, Renal hypoplasia, Wide nasal bridge, Bilateral renal agene... |
OMIM:616258 |
Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia |
OMIM:600151 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Thin upper lip vermilion, Anteverted nares, Renal hypoplasia, Narrow mouth, Vesicoureteral reflux... |
OMIM:613735 |
Rauch-Steindl Syndrome |
|
Short stature, Depressed nasal bridge, Postnatal growth retardation, Bilateral renal hypoplasia, ... |
OMIM:619695 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... |
OMIM:236730 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... |
OMIM:617610 |
Joubert Syndrome 22 |
|
Intrauterine growth retardation, Renal hypoplasia |
OMIM:615665 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Depressed nasal bridge, Elevated circulating creatine kinase concentration, Unilateral renal hypo... |
OMIM:619955 |
Fanconi Anemia, Complementation Group W |
|
Decreased response to growth hormone stimulation test, Renal hypoplasia, Growth delay, Intrauteri... |
OMIM:617784 |
Chromosome 4Q21 Deletion Syndrome |
|
Severe short stature, Postnatal growth retardation, Narrow mouth, Downturned corners of mouth, Sh... |
OMIM:613509 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Thin upper lip vermilion, Renal insufficiency, Renal agenesis, Anteverted nares, Unilateral renal... |
OMIM:617641 |
Marden-Walker Syndrome |
|
Hypospadias, Anteverted nares, Postnatal growth retardation, High, narrow palate, Cryptorchidism,... |
OMIM:248700 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillbirth, Tongue fas... |
OMIM:614922 |
Cenani-Lenz Syndactyly Syndrome |
|
Premature loss of permanent teeth, Renal agenesis, Ectopic kidney, Renal hypoplasia, Hypodontia, ... |
OMIM:212780 |
Gitelman Syndrome |
|
Polyuria, Renal magnesium wasting, Growth delay, Enuresis, Hypokalemia, Hypocalciuria, Increased ... |
OMIM:263800 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Small pituitary gland, Decreased response to growth hormone stimula... |
OMIM:615925 |
Bardet-Biedl Syndrome 17 |
|
Polyuria, Anosmia, Stage 5 chronic kidney disease, Renal cyst, Hyposmia, Micropenis |
OMIM:615994 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Ketonuria, High palate, Renal hypoplasia |
OMIM:619053 |
Emanuel Syndrome |
|
Recurrent urinary tract infections, Dental crowding, Intestinal malrotation, Unilateral renal age... |
OMIM:609029 |
Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Wide mouth, Postnatal growth retardation, Thick lower lip vermilion, Thick upper lip vermilion |
OMIM:309545 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Hypoperistalsis, Renal hypoplasi... |
OMIM:611376 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Isolated Atp Synthase Deficiency |
|
Short stature, Renal hypoplasia, Hyperammonemia, 3-Methylglutaconic aciduria, Hyperalaninemia, Hy... |
ORPHA:254913 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Hyperkalemia, Renal hypoplasia, Growth delay... |
OMIM:617595 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Short stature, Absence of renal cor... |
OMIM:120330 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Duodenal ... |
ORPHA:2470 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Abnormality of the ureter, Hypospadias, Renal hypoplasia/aplasia |
ORPHA:1046 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... |
OMIM:219800 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Short stature, Prominent nasal bridge, Unilateral renal agenesis, Ectopic kidney, Long nose, Cryp... |
OMIM:616541 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Diarrhea, Proximal tubulopathy, Vomiting, Polyuria |
OMIM:560000 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... |
OMIM:220150 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Hypospadias, Renal salt wasting |
OMIM:201710 |
Cach Syndrome |
|
Nonketotic hyperglycinemia, Renal hypoplasia, Growth delay, Vomiting, Dysphagia, Intrauterine gro... |
ORPHA:135 |
Brooke-Spiegler Syndrome |
|
Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo... |
ORPHA:79493 |
Emanuel Syndrome |
|
Delayed eruption of teeth, Dental crowding, Unilateral renal agenesis, Cryptorchidism, Submucous ... |
ORPHA:96170 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Abnormality of the kidney, Prostatitis, Xerostomia, Enlarged lacrimal glands... |
ORPHA:449432 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Renal insufficiency, Increased circulating NT-proBNP concentration, ... |
ORPHA:85443 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl... |
ORPHA:2260 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Decreased response to growth hormone stimulation test, Hypercalcemia, Depressed nasa... |
OMIM:614732 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Cryptorchidism, Recurrent upper respiratory tract i... |
OMIM:618183 |
Fanconi Anemia, Complementation Group I |
|
Short stature, Decreased response to growth hormone stimulation test, Abnormal renal morphology, ... |
OMIM:609053 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Hypospadias, Short stature, Short uvula, Renal hypoplasia, Renal cyst, Ag... |
OMIM:614091 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Idiopathic Hypercalciuria |
|
Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith... |
ORPHA:2197 |
Vacterl Association With Hydrocephalus |
|
Stillbirth, Renal hypoplasia, Anal atresia |
OMIM:276950 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Absence of renal corticomedullary differentiation, Broad nasal tip, Bifid nasal tip, Renal hypopl... |
OMIM:619758 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Renal hypoplasia, Dysphagia, Nephrocalcinosis, Growth delay, Aminoacidu... |
OMIM:617913 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Ureteral agenesis, Hyperechogenic kidneys, Bilateral renal agenesis, Renal hypoplasia |
OMIM:617914 |
Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Short stature, Persistenc... |
ORPHA:37553 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Nasal polyposis, Rectal prolapse, Abnormality of the ureter, Multiple g... |
OMIM:175200 |
Pai Syndrome |
|
Median cleft lip, Depressed nasal bridge, Nasal polyposis, Cleft palate, Abnormal oral frenulum m... |
ORPHA:1993 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Renal cyst, Short philtrum, Microphallus, Vesicoureteral reflux, Short stature, Anteverted nares,... |
OMIM:618454 |
Dent Disease 2 |
|
Short stature, Elevated circulating creatine kinase concentration, Chronic kidney disease, Hyperc... |
OMIM:300555 |
Lipoid Proteinosis |
|
Nasal polyposis, Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip ver... |
ORPHA:530 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... |
ORPHA:84081 |
Fraser Syndrome 2 |
|
Wide nose, Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Underdeveloped nasa... |
OMIM:617666 |
Cornelia De Lange Syndrome 1 |
|
Ectopic kidney, High, narrow palate, Renal cyst, Downturned corners of mouth, Widely spaced teeth... |
OMIM:122470 |
Arima Syndrome |
|
Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, Hematuria, Wide mouth, G... |
OMIM:243910 |
Teratoma, Pineal |
|
Polyuria |
OMIM:273120 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Nasal polyposis, Median cleft lip, High palate, Bifid uvula |
OMIM:155145 |
Penoscrotal Transposition |
|
Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Abnormality o... |
ORPHA:2842 |
Adams-Oliver Syndrome 6 |
|
Esophageal varix, Renal hypoplasia |
OMIM:616589 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Short stature, Submucous cleft hard palate, Renal hypoplasia, Vesicoureteral reflux, Bifid uvula |
OMIM:617660 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Vom... |
OMIM:239199 |
Chopra-Amiel-Gordon Syndrome |
|
Thin upper lip vermilion, Short stature, Unilateral renal agenesis, Postnatal growth retardation,... |
OMIM:619504 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Hashimoto th... |
ORPHA:49041 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Intestinal obstruction, Proteinuria, Nasal polyposis, Malabs... |
ORPHA:183 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Zttk Syndrome |
|
Absent gallbladder, Short stature, Polyuria, Unilateral renal agenesis, Abnormality of the dentit... |
OMIM:617140 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... |
ORPHA:93110 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Natal tooth, Rhizomelia, Hamartoma of tongue, Prominent nose, Cryptorchidism, Cleft lip, Renal hy... |
OMIM:616300 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis |
OMIM:618845 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Fanconi Anemia, Complementation Group F |
|
Short stature, Decreased response to growth hormone stimulation test, Cryptorchidism, Renal hypop... |
OMIM:603467 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... |
ORPHA:564178 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Severe short stature, Short stature, Cryptorchidism, Renal hypoplasia, Horsesh... |
OMIM:601186 |
Kinsship Syndrome |
|
Thin upper lip vermilion, Short stature, Bulbous nose, Thick lower lip vermilion, Renal hypoplasi... |
OMIM:619297 |
Familial Isolated Hyperparathyroidism |
|
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, Hypercalciuri... |
ORPHA:99879 |
Prune Belly Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... |
ORPHA:2970 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... |
ORPHA:94088 |
Van Maldergem Syndrome 2 |
|
Irregular dentition, Tented upper lip vermilion, Hypospadias, Depressed nasal bridge, Cryptorchid... |
OMIM:615546 |
Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Prominent nasal bridge, Bilateral renal hypoplasia, Wide... |
OMIM:243605 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Shor... |
OMIM:614527 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypercalciuria, Nephrocalcinosis, Growth delay, Hypokalemia, Vomiting, Distal renal tubular acidosis |
OMIM:602722 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Tented upper lip vermilion, Hypospadias, Dental malocclusion, Renal hypoplas... |
OMIM:601390 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
Cerebrofacioarticular Syndrome |
|
Irregular dentition, Anal stenosis, Hypospadias, Short stature, Bilateral choanal atresia/stenosi... |
ORPHA:314679 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Short stature, Cryptorchidism, Pyloric stenosis, Renal hypoplasia, Ectopic a... |
ORPHA:3138 |
Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Anal stenosis, Abnormal nasopharynx morphology, Renal agenesis, Aganglionic me... |
OMIM:607323 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Chronic kidney disease... |
ORPHA:730 |
Hypocalcemia, Autosomal Dominant 1 |
|
Short stature, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia,... |
OMIM:601198 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Tented upper lip vermilion, Short stature, Renal hypoplasia, Renal cyst, Dy... |
OMIM:618460 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Growth delay, Increased circulating renin level, ... |
OMIM:203400 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st... |
OMIM:604292 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Gra... |
ORPHA:64744 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Esophageal atresia, Tracheoesophageal fistula, Renal hypoplasia, Cleft... |
OMIM:614083 |
Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy |
OMIM:600057 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Hydroureter, Fetal megacystis |
OMIM:249210 |
Asthma, Nasal Polyps, And Aspirin Intolerance |
|
Nasal polyposis |
OMIM:208550 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Short stature, Cleft soft palate, Intestinal malrotation, Convex nasal ridge, Short nose, Renal h... |
OMIM:619321 |
Congenital Myopathy 17 |
|
Tented upper lip vermilion, Dental malocclusion, Renal hypoplasia, Cleft palate, High palate, Lon... |
OMIM:618975 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Decreased response to growth hormone st... |
OMIM:129900 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... |
ORPHA:99845 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Short stature, Abnormal urine sodium concentration, Nephrocalcinosis, Hypoka... |
ORPHA:320 |
Hypotonia-Cystinuria Syndrome |
|
Tented upper lip vermilion, Depressed nasal bridge, Decreased response to growth hormone stimulat... |
OMIM:606407 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Growth delay, Increased circulating renin level, ... |
OMIM:610600 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Vo... |
ORPHA:85450 |
Hypercalciuria, Absorptive, 2 |
|
Hypercalciuria, Calcium oxalate nephrolithiasis |
OMIM:143870 |
Bladder Exstrophy |
|
Recurrent urinary tract infections, Hypoplasia of penis, Epispadias, Abnormality of the ureter, V... |
ORPHA:93930 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s... |
OMIM:134600 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Short stature, Generalized aminoaciduria, Hypercalciuria, Hypop... |
OMIM:613388 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Hydroureter, Postnatal growth retardation, Pyloric stenosis, Nephrolithiasis, Vesicoureteral reflux |
OMIM:617219 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... |
OMIM:248190 |
Ciliary Dyskinesia, Primary, 42 |
|
Recurrent sinusitis, Nasal polyposis, Chronic rhinitis |
OMIM:618695 |
Silver-Russell Syndrome 1 |
|
Urethral valve, Hypospadias, Abnormality of the ureter, Congenital posterior urethral valve, Neph... |
OMIM:180860 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Nasal polyposis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis |
OMIM:242670 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Renal hypoplasia, Lob... |
OMIM:269860 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Increased circulating renin level, Vomi... |
ORPHA:556037 |
Syndromic Diarrhea |
|
Villous atrophy, Gastritis, Short stature, Renal hypoplasia, Wide nasal bridge, Bloody diarrhea, ... |
ORPHA:84064 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Renal hypoplasia |
OMIM:618914 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hyperphosphaturia, Short stature, Carious teeth, Hypoplasia of teeth, Hypophosphatemic rickets, M... |
OMIM:613312 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Short stature, Abnormality of the dentition, Renal phosphate wasting, Hypophosphatemia, Hypophosp... |
OMIM:193100 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Recurrent urinary tract infections, Dental crowding, Short stature, Anteverted nares, Depressed n... |
OMIM:617157 |
Phakomatosis Pigmentokeratotica |
|
Cryptorchidism, Renal transitional cell carcinoma, Unilateral renal hypoplasia, Hyperhidrosis, Ph... |
ORPHA:2874 |
Exstrophy-Epispadias Complex |
|
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias... |
ORPHA:322 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Depressed nasal bridge, Rectal fistula, Cryptorchidism, Feta... |
ORPHA:49 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Hypertriglyceridemia, Depressed nasal bridge, Long nose, Multiple s... |
OMIM:118450 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia |
OMIM:612286 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Short stature, Chronic kidney disease, Stage 5 chronic ki... |
OMIM:300009 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Renal salt wasting |
OMIM:201910 |
Ciliary Dyskinesia, Primary, 19 |
|
Rhinitis, Nasal polyposis, Recurrent sinusitis, Absent inner and outer dynein arms |
OMIM:614935 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure... |
ORPHA:3027 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Short stature, Anteverted nares, Unilateral renal agenesis, Depressed nasal ... |
OMIM:181270 |
Pseudotrisomy 13 Syndrome |
|
Renal agenesis, Cleft upper lip, Cryptorchidism, Renal hypoplasia, Micropenis, Anal atresia, Medi... |
OMIM:264480 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Depressed nasal bridge, Cryptorchidism, Renal hypoplasia, Depressed nasal tip, Severe postnatal g... |
OMIM:620005 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Abnormality of the bladder |
ORPHA:2547 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism, Renal salt wasting |
OMIM:613743 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ureteral duplication, Renal agenesis, Horseshoe kidney, Ectopic kidney |
OMIM:602200 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormal circulating lipid concentration, Proteinuria, Enlarged polycystic ovar... |
ORPHA:2298 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Renal salt wasting, Diarrhea, Hyperkalemia, Hyperaldosteronism, Vomiting, Pseudohyp... |
OMIM:264350 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Tented upper lip vermilion, Widely-spaced maxillary central incisors, High palate, Vomiting, Gast... |
OMIM:309580 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Xerostomia, Enlarged lacrimal glands, Thyroiditis, Enlargement of parotid gland, Tubulointerstiti... |
ORPHA:79078 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Abnormality of the ureter |
ORPHA:1035 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
Immunodeficiency 13 |
|
Recurrent sinusitis, Nasal polyposis, Recurrent upper respiratory tract infections |
OMIM:615518 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Increased circulating renin level, Vomi... |
ORPHA:556030 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Hypercalciuria, Nephrolithiasis, Hypocalciur... |
OMIM:145980 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Renal cyst, Hypoalbuminemia, Vomiting, Gastroesophageal reflux, Hypocholesterole... |
OMIM:270400 |
Lacrimoauriculodentodigital Syndrome |
|
Abnormal dental enamel morphology, Choanal atresia, Abnormality of the dentition, Carious teeth, ... |
ORPHA:2363 |
Cockayne Syndrome |
|
Urinary incontinence, Gastroesophageal reflux, Abnormal dental morphology, Cryptorchidism, Renal ... |
ORPHA:191 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Prominent nose, High, narrow palate, Deep philtrum, Downturned corners of mouth, Short philtrum, ... |
OMIM:619950 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Short stature, Elevated circulating creatinine concentration, Growth delay, Gl... |
OMIM:615605 |
Ciliary Dyskinesia, Primary, 22 |
|
Nasal polyposis, Rhinitis, Recurrent sinusitis, Absent inner and outer dynein arms |
OMIM:615444 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Peptic ulcer, Parathormone-independent increased renal tubular calcium reabsorption, Hypercalcemi... |
OMIM:145981 |
Cystic Fibrosis |
|
Nasal polyposis, Meconium ileus, Rectal prolapse, Ileus, Diarrhea, Hypercalciuria, Steatorrhea, P... |
OMIM:219700 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria |
OMIM:617993 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia |
OMIM:612287 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital... |
ORPHA:2239 |
Ciliary Dyskinesia, Primary, 30 |
|
Nasal congestion, Absent outer dynein arms, Nasal polyposis |
OMIM:616037 |
22Q11.2 Deletion Syndrome |
|
Short philtrum, Hypoplasia of the thymus, Hypocalcemia, Gastroesophageal reflux, Vesicoureteral r... |
ORPHA:567 |
Cockayne Syndrome Type 3 |
|
Neurogenic bladder, Renal insufficiency, Hydroureter, Mild postnatal growth retardation, Unilater... |
ORPHA:90324 |
Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease, Hyperparathyroidism, Postnatal growth retardation, Elevated circu... |
OMIM:620366 |
East Syndrome |
|
Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased... |
ORPHA:199343 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Malabsorption, Diarrhea, Ena... |
ORPHA:47159 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Hydronephrosis |
OMIM:618240 |
Muir-Torre Syndrome |
|
Renal neoplasm, Neoplasm of the stomach, Salivary gland neoplasm, Adenoma sebaceum, Colon cancer |
ORPHA:587 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Thin upper lip vermilion, Depressed nasal bridge, Decreased response to growth hormone stimulatio... |
OMIM:241410 |
Ciliary Dyskinesia, Primary, 35 |
|
Nasal polyposis, Chronic rhinitis |
OMIM:617092 |
Nephrolithiasis, Calcium Oxalate, 1 |
|
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... |
OMIM:167030 |
Marcus-Gunn Syndrome |
|
Choanal atresia, Postnatal growth retardation, Cleft lip, Nephrolithiasis, Cleft palate, Abnormal... |
ORPHA:91412 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Nasal polyposis, Recurrent sinusitis |
OMIM:620197 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Cryptorchidism, Hyperkale... |
OMIM:614736 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent sinusitis, Nasal polyposis, Chronic rhinitis |
OMIM:608647 |
Cholera |
|
Hyponatremia, Abnormality of renal excretion, Diarrhea, Abnormal blood ion concentration, Hypokal... |
ORPHA:173 |
Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Renal Fanconi syndrome, Vomiting, Hypocalcemia, Low-molecular-weight proteinuria, ... |
ORPHA:411634 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Anteverted nares, Ur... |
ORPHA:2729 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... |
ORPHA:1652 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hypoplasia of penis, Intestinal obstruction, Short stature, Abnormal dental e... |
ORPHA:2323 |
Williams-Beuren Syndrome |
|
Rectal prolapse, Nephrocalcinosis, Gastroesophageal reflux, Vesicoureteral reflux, Microdontia, M... |
OMIM:194050 |
Ciliary Dyskinesia, Primary, 2 |
|
Nasal polyposis, Absent inner and outer dynein arms |
OMIM:606763 |
Hypomagnesemia 2, Renal |
|
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia |
OMIM:154020 |
Caudal Duplication |
|
Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia |
ORPHA:1756 |
Bare Lymphocyte Syndrome, Type I |
|
Nasal polyposis |
OMIM:604571 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Short stature, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypo... |
OMIM:300554 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hyperphosphaturia, Short stature, Increased circulating beta-C-terminal telopeptide concentration... |
ORPHA:157215 |
Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Prominent nose, Bilateral renal hypoplasia, High palate, Gastroesophag... |
OMIM:619488 |
Familial Hypoaldosteronism |
|
Hyponatremia, Decreased urinary potassium, Renal salt wasting, Diarrhea, Hyperkalemia, Proximal r... |
ORPHA:427 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2522 |
Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Nasal polyposis |
OMIM:613808 |
Renpenning Syndrome 1 |
|
Thin upper lip vermilion, Hypospadias, Macrodontia, Short stature, Phimosis, Bulbous nose, Renal ... |
OMIM:309500 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Nephroblastoma, Renal hypoplasia |
OMIM:612918 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabs... |
OMIM:600740 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... |
ORPHA:411709 |
Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Malabsorption, Carious teeth, Xerostomia, Oliguria, Gastroesophageal reflux,... |
ORPHA:220393 |
Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Hydronephrosis |
OMIM:598500 |
Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Wide nose, Cleft ala nasi, Hypospadias, Dental crowding, Dep... |
OMIM:219000 |
14Q22Q23 Microdeletion Syndrome |
|
Short stature, Anterior pituitary hypoplasia, Underdeveloped nasal alae, Cryptorchidism, Renal hy... |
ORPHA:264200 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thin upper lip vermilion, Renal agenesis, Hypospadias, Short stature, Renal hypoplasia, Horseshoe... |
ORPHA:508498 |
Hypokalemic Tubulopathy And Deafness |
|
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting |
OMIM:619406 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Cryptorchidism, Primary a... |
OMIM:300200 |
Sarcoidosis |
|
Renal insufficiency, Hyperthyroidism, Abnormal nasal mucosa morphology, Hypercalcemia, Enlarged l... |
ORPHA:797 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... |
ORPHA:1834 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Abnormality of the ureter |
ORPHA:3409 |
Coffin-Siris Syndrome 1 |
|
Ectopic kidney, Conical tooth, Short philtrum, High palate, Microdontia, Hypospadias, Short statu... |
OMIM:135900 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Diarrhea, Oliguria, Abnormal blood ion concentration, Hypophos... |
ORPHA:31824 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Postnatal growth retardation, Cryptorchidism, Cleft palate, Hypoplasia of teeth, Wid... |
ORPHA:2728 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Renal insufficiency, Abnormality of dental color, Abnormal dental enam... |
ORPHA:1031 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Nausea, Diarrhea, Elevated circulating creatinine concentration, Vomiting, Hyperbilirubinemia, Ac... |
ORPHA:542323 |
Cystic Fibrosis |
|
Nasal polyposis, Meconium ileus, Malabsorption, Rectal prolapse, Nephrolithiasis, Gastroesophagea... |
ORPHA:586 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea, Colonic st... |
ORPHA:90038 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Short stature, Hypercalcemia, Renal phosphate wasting, Hypophosphatemic rick... |
OMIM:612089 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Hyperhidrosis, Tubulointerstitial nephritis, Vomiting... |
ORPHA:340 |
Fraser Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Dental crowding, Anal stenosis, C... |
ORPHA:2052 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
Hereditary Orotic Aciduria |
|
Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria |
ORPHA:30 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Short stature, Hypocitraturia, Diarrhea, Nephrolithiasis, Renal cyst, Hypercal... |
ORPHA:18 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Malabsorption, Postnatal growth retardat... |
OMIM:227810 |
Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Rectal prolapse, Abnorma... |
ORPHA:904 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... |
OMIM:300539 |
Darier-White Disease |
|
Enlargement of parotid gland |
OMIM:124200 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Diarrhea, Oliguria, Pancreatitis, Abnormal renal tubule morphology |
ORPHA:188 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Epistaxis, Diarrhea, Peritoniti... |
ORPHA:727 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Abnormality of the ureter, Renal hypoplasia/aplasia |
ORPHA:1770 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Depressed nasal bridge, Postnatal growth retardation, Cryptorchidism, ... |
ORPHA:3404 |
Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Abnormality of the urinary system, Anuria |
OMIM:267430 |
Primary Ciliary Dyskinesia |
|
Nasal congestion, Nasal polyposis, Intestinal malrotation, Chronic rhinitis |
ORPHA:244 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Proteinuria, Hypouricemia, Short stature, Hypophosphatemia, Nephrocalcinosis, ... |
OMIM:616026 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Diarrhea, Elevated circulating creatinine conc... |
OMIM:235400 |
Trisomy 13 |
|
Displacement of the urethral meatus, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis |
ORPHA:3378 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Gastritis, Nausea, Hyperkalemia, Renal tubular epithelial necrosis, Renal tu... |
ORPHA:31826 |
Prune Belly Syndrome |
|
Hydroureter, Congenital posterior urethral valve, Hydronephrosis |
OMIM:100100 |
Ciliary Dyskinesia, Primary, 1 |
|
Absent outer dynein arms, Nasal polyposis, Anosmia, Chronic rhinitis |
OMIM:244400 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Polyuria, Narrow nasal ridge, Diarrhea, Dysphagia, Vomiting, Recurrent panc... |
OMIM:606721 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... |
ORPHA:857 |
8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Bilateral renal hypoplasia, Cleft maxillary alveolar ridge, Gastroes... |
ORPHA:508488 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Peptic ulcer, Parathormone-independent increased renal t... |
ORPHA:405 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Wide nose, Depressed nasal bridge, Urethrovaginal fistula, Cleft upper lip, ... |
ORPHA:93271 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... |
ORPHA:89938 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis |
OMIM:619362 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Hypospadias, Decreased response to growth hormone stimulation test, Bilatera... |
ORPHA:96179 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Unilateral renal agenesis, Cleft palate, Parathyroid hyp... |
ORPHA:2237 |
Diamond-Blackfan Anemia 1 |
|
Short stature, Cleft upper lip, Depressed nasal ridge, Renal hypoplasia, Cleft palate, Colon canc... |
OMIM:105650 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Nausea, Intestinal perforation, Pancreatitis, Diarrhea, Hyperkalemia, Oligu... |
ORPHA:544482 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphate... |
ORPHA:289176 |
Cloacal Exstrophy |
|
Hypoplasia of penis, Hydroureter, Ectopic kidney, Renal hypoplasia/aplasia, Horseshoe kidney, Ure... |
ORPHA:93929 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Recurrent urinary tract infections, Decreased circulating cortisol level, Renal sal... |
ORPHA:361 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Anteverted nares, Prominent nose, Cryptorchidism, Disproportionate short stature, Renal hypoplasi... |
OMIM:210710 |
Aredyld Syndrome |
|
Abnormality of the ureter |
ORPHA:1133 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h... |
ORPHA:231580 |
Sarcoidosis, Susceptibility To, 1 |
|
Inflammation of the large intestine, Enlarged lacrimal glands, Hypercalciuria, Abnormal salivary ... |
OMIM:181000 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Gastrointestinal hemorrhage, Recurrent urinary tract infections, Renal insufficienc... |
ORPHA:731 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Megacystis, Hydronephrosis |
OMIM:619431 |
Blau Syndrome |
|
Clear cell renal cell carcinoma, Xerostomia, Stage 5 chronic kidney disease, Nephropathy, Abnorma... |
ORPHA:90340 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Parathyroid hypop... |
OMIM:214800 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, Hyperammonemia... |
ORPHA:159 |
Smith-Magenis Syndrome |
|
Abnormality of the ureter, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:819 |
Peters-Plus Syndrome |
|
Ureteral duplication, Short lingual frenulum, Bilobate gallbladder, Anteriorly placed anus, Conic... |
OMIM:261540 |
Townes-Brocks Syndrome 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Anal stenosis, Re... |
OMIM:107480 |
Benign Schwannoma |
|
Intestinal polyposis, Nasal polyposis, Abnormal parotid gland morphology, Abnormal esophagus morp... |
ORPHA:252164 |
Igg4-Related Ophthalmic Disease |
|
Abnormality of the kidney, Elevated circulating C-reactive protein concentration, Orchitis, Abnor... |
ORPHA:449563 |
Acute Monoblastic/Monocytic Leukemia |
|
Oliguria, Central hypothyroidism |
ORPHA:514 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Abnormal ... |
ORPHA:411629 |
Lassa Fever |
|
Diarrhea, Oliguria, Dysphagia |
ORPHA:99824 |
Poland Syndrome |
|
Duplicated collecting system, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Renal hypopl... |
ORPHA:2911 |
Melioidosis |
|
Prostatitis, Abnormal parotid gland morphology, Parotitis |
ORPHA:31202 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Renal agenesis, Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the paroti... |
OMIM:149730 |
Granulomatosis With Polyangiitis |
|
Concave nasal ridge, Nasal mucosa vasculitis, Oral ulcer |
OMIM:608710 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia, Decreased circulating cortisol level, Decreased urinary potassium |
OMIM:611489 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... |
ORPHA:79403 |
Lujo Hemorrhagic Fever |
|
Renal insufficiency, Elevated circulating C-reactive protein concentration, Diarrhea, Oliguria, H... |
ORPHA:319213 |
Diabetic Embryopathy |
|
Ureteral duplication, Micropenis, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:1926 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Ileal atresia, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical ... |
OMIM:619351 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulce... |
ORPHA:99880 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... |
ORPHA:261318 |
17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia |
ORPHA:261265 |
Orofaciodigital Syndrome Xiv |
|
Natal tooth, Hamartoma of tongue, Epispadias, Cryptorchidism, Supernumerary tooth, Cleft lip, Apl... |
OMIM:615948 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypospadias, Renal salt wasting, Cryptorchidi... |
ORPHA:90791 |
Alagille Syndrome |
|
Nephrotic syndrome, Abnormality of the ureter, Renal hypoplasia/aplasia |
ORPHA:52 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2311 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Horseshoe kidney, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney |
ORPHA:3109 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Hy... |
ORPHA:231625 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Ureteral stenosis, Intestinal malrotation, Renal hypoplasia, Intrauterine g... |
OMIM:270100 |
Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos... |
ORPHA:223 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Abnormality of the... |
ORPHA:3339 |
Neurofibroma |
|
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding |
ORPHA:252183 |
Baller-Gerold Syndrome |
|
Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney |
ORPHA:1225 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Elevated circulating luteinizing hormone leve... |
ORPHA:168558 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Renal insufficiency, Decreased circulating cortisol level, Hypercalcemia, Decreased... |
ORPHA:95409 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl... |
ORPHA:158684 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia, Hypercalciuria |
OMIM:242050 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Cryptorchidism, Cleft palate, Wide mouth, Abnormal parotid gland morphology, N... |
OMIM:154500 |
Sepsis In Premature Infants |
|
Elevated circulating C-reactive protein concentration, Diarrhea, Enterocolitis, Oliguria, Vomitin... |
ORPHA:90051 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Short stature, Renal salt wasting, Long penis, Testicular a... |
ORPHA:90795 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Elevated circulating luteinizing hormone leve... |
ORPHA:289548 |
Noonan Syndrome 9 |
|
Hydroureter |
OMIM:616559 |
Dextrocardia |
|
Abnormal renal morphology, Abnormality of the ureter |
ORPHA:1666 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Hydroureter, Hydronephrosis |
OMIM:222300 |
Ellis Van Creveld Syndrome |
|
Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Epispadias, Abnorm... |
ORPHA:289 |
Microphthalmia, Syndromic 1 |
|
Hydroureter, Dental crowding, Hypospadias, Aganglionic megacolon, Renal hypoplasia/aplasia, Cleft... |
OMIM:309800 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis |
OMIM:615398 |
Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Micropenis, Hypospadias |
OMIM:617516 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hype... |
ORPHA:73224 |
Microphthalmia, Syndromic 6 |
|
Cryptorchidism, Hypothyroidism, Renal hypoplasia, Cleft palate, High palate, Microglossia, Anteri... |
OMIM:607932 |
Kikuchi-Fujimoto Disease |
|
Enlargement of parotid gland, Oral ulcer, Elevated circulating C-reactive protein concentration |
ORPHA:50918 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the ureter |
ORPHA:3253 |
Czeizel-Losonci Syndrome |
|
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydronephrosis |
ORPHA:2437 |
Addison Disease |
|
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Primary testicular failur... |
ORPHA:85138 |
Mandibulofacial Dysostosis With Alopecia |
|
Hydroureter |
OMIM:616367 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Renal duplication |
OMIM:270420 |
Yellow Fever |
|
Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating creatine kinase concentrati... |
ORPHA:99829 |
Codas Syndrome |
|
Hydroureter |
ORPHA:1458 |
Exercise-Induced Malignant Hyperthermia |
|
Anhidrosis, Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphos... |
ORPHA:466650 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Megacystis |
ORPHA:2241 |
Familial Visceral Myopathy |
|
Vesicoureteral reflux, Hydroureter, Megacystis |
ORPHA:2604 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Hydronephrosis, Poly... |
OMIM:608836 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
Acrorenal-Mandibular Syndrome |
|
Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia |
OMIM:200980 |
Vici Syndrome |
|
Renal tubular acidosis, Ureteral atresia |
ORPHA:1493 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Hypospadias, Vesicoureteral reflux, Hydronephrosis, Renal duplication |
ORPHA:96169 |
Fraser Syndrome 3 |
|
Ureteral agenesis, Hypoplasia of the bladder, Hypoplasia of penis, Bilateral renal agenesis |
OMIM:617667 |
Aneurysm Of Sinus Of Valsalva |
|
Oliguria |
ORPHA:1054 |
Diphallia |
|
Ureteral duplication, Renal malrotation, Hypospadias, Distal urethral duplication, Epispadias, Pe... |
ORPHA:227 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:568 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Hydronephrosis, Vesicoureteral ... |
OMIM:614080 |
Vater/Vacterl Association |
|
Renal dysplasia, Abnormal nasopharynx morphology, Hypospadias, Renal agenesis, Choanal atresia, E... |
OMIM:192350 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Ureteral atresia, Polycystic kidney dysplasi... |
OMIM:208540 |
Noonan Syndrome 4 |
|
Ureteral duplication, Hydronephrosis |
OMIM:610733 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Renal salt wasting, Diarrhea, Esophageal varix, Abnormal urin... |
ORPHA:275761 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration, Oliguria |
ORPHA:97292 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
Schwartz-Jampel Syndrome |
|
Abnormality of the urinary system, Abnormality of the ureter, Nephrolithiasis |
ORPHA:800 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Vesicoureteral reflux, Crossed fused renal ectopia, Pelvi... |
OMIM:300707 |
Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... |
ORPHA:2036 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Short stature, Renal salt wasting, Long penis... |
ORPHA:90794 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypospadias, Urolithiasis, Hyperuricosuria, Uric acid nephrolithiasis |
OMIM:300661 |
Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic... |
OMIM:258040 |
Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia |
OMIM:236700 |
Carpenter Syndrome 1 |
|
Hydroureter, Hydronephrosis |
OMIM:201000 |
Meckel Syndrome, Type 1 |
|
Hypoplasia of the bladder, Renal agenesis, Abnormality of the ureter, Polycystic kidney dysplasia... |
OMIM:249000 |
Schinzel-Giedion Syndrome |
|
Hypospadias, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Micropenis, Nephroblastoma, ... |
ORPHA:798 |
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Duplication of renal pelvis, Ureteral duplication |
ORPHA:457212 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:2995 |
Castleman Disease |
|
Hematuria, Renal insufficiency, Ureteral obstruction |
ORPHA:160 |
Peroxisome Biogenesis Disorder 4B |
|
Ureterocele |
OMIM:614863 |
Congenital Tracheal Stenosis |
|
Abnormality of the ureter, Abnormality of the kidney |
ORPHA:141127 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Hypertrophy of the urinary bladder, Unilateral renal dysplasia, Congenital megaurete... |
ORPHA:280633 |
Frontometaphyseal Dysplasia 1 |
|
Hydroureter, Hydronephrosis |
OMIM:305620 |
Otopalatodigital Syndrome Type 2 |
|
Hydronephrosis, Hypospadias, Ureteral obstruction |
ORPHA:90652 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Bilateral renal agenesis, Unilateral renal agenesis, Hydroureter |
OMIM:619194 |
White-Kernohan Syndrome |
|
Hydroureter, Hydronephrosis, Horseshoe kidney |
OMIM:619426 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Reduced renal... |
OMIM:266920 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Ureteral hypoplasia, Abnormal renal artery morphology, Hydronephrosis,... |
ORPHA:79328 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Hydroureter |
OMIM:610759 |
Raine Syndrome |
|
Hydroureter, Hydronephrosis |
OMIM:259775 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Renal malrotation, Dilatation of the renal pelvis, Horseshoe kidney, Axial ... |
OMIM:274000 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Hypospadias, Hydroureter, Micropenis, Hydronephrosis |
OMIM:269150 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... |
ORPHA:373 |
Fanconi Anemia |
|
Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Renal hypoplas... |
ORPHA:84 |
Fryns Syndrome |
|
Ureteral duplication, Renal agenesis, Hypospadias, Renal cyst, Hydronephrosis |
OMIM:229850 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Nephrolithiasis, Hypercalciuria, Congenital megaureter, Multiple renal cyst... |
ORPHA:116 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... |
OMIM:301068 |
Occipital Horn Syndrome |
|
Hydronephrosis, Bladder diverticulum, Ureteral obstruction |
OMIM:304150 |
Frontometaphyseal Dysplasia |
|
Hydronephrosis, Urethral stenosis, Ureteral obstruction |
ORPHA:1826 |
Chand Syndrome |
|
Hydroureter |
ORPHA:1401 |
Early Infantile Epileptic Encephalopathy |
|
Micropenis, Renal dysplasia, Ureterocele |
ORPHA:1934 |
Cardiac Valvular Dysplasia 1 |
|
Urethral diverticulum, Hydroureter, Hydronephrosis |
OMIM:212093 |
Meckel Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Urethral atresia |
ORPHA:564 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2636 |
Proboscis Lateralis |
|
Ureteral agenesis, Duplication of renal pelvis, Unilateral renal agenesis |
ORPHA:141099 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Dilatation of the renal pelvis, Dilatation of the bladder, Hydronephrosis |
OMIM:265380 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Hypospadias, Ureterocele |
OMIM:616734 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Hydron... |
ORPHA:709 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Bifid ureter, Hydronephrosis, Horseshoe kidney |
OMIM:305600 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hydronephrosis, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract |
ORPHA:2273 |
Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... |
ORPHA:821 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Glycosuria |
OMIM:600001 |
Restrictive Dermopathy 1 |
|
Ureteral duplication, Hypospadias |
OMIM:275210 |
Restrictive Dermopathy |
|
Ureteral duplication, Hypospadias |
ORPHA:1662 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication |
ORPHA:2255 |