Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Spermatogenic Failure 51 |
|
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... |
OMIM:619177 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Failure to thrive, Hypophosphatemia, Polyuria, Hypercalciuria, Hypercalc... |
OMIM:616963 |
Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... |
ORPHA:1646 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Glucose-Galactose Malabsorption |
|
Nephrolithiasis, Failure to thrive, Hematuria, Hypernatremia, Renal insufficiency, Hypercalcemia,... |
ORPHA:35710 |
Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility |
OMIM:619689 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility |
OMIM:619696 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia |
ORPHA:33111 |
Webb-Dattani Syndrome |
|
Hypernatremia, Hydronephrosis, Cryptorchidism, Vesicoureteral reflux, Neurogenic bladder |
OMIM:615926 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephri... |
OMIM:614817 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... |
OMIM:617959 |
Diffuse Neonatal Hemangiomatosis |
|
Abnormal vagina morphology, Renal hypoplasia/aplasia, Renal insufficiency, Hypercalcemia |
ORPHA:2123 |
Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
Nephrogenic Diabetes Insipidus |
|
Failure to thrive, Hyposthenuria, Hydroureter, Hypernatremia, Functional abnormality of the bladd... |
ORPHA:223 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Failure to thrive, Renal tubular acidosis, Hypercalciuria, Hypercalcemia, Nephrocalcinosis |
OMIM:239199 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Megacystis, Failure to thrive, Polyuria, Hypernatremia |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polyuria, Megacystis, Failure to thrive, Hypernatremia |
OMIM:304800 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Azoospermia, Increased LDL cholesterol concentration, Decreased HDL cholesterol conc... |
OMIM:615703 |
Hypervitaminosis A, Susceptibility To |
|
Renal insufficiency, Hypercalcemia |
OMIM:240150 |
2P21 Microdeletion Syndrome |
|
Nephrolithiasis, Failure to thrive, Hypocalcemia, Cystinuria, Hypogonadism |
ORPHA:163693 |
Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... |
OMIM:618433 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Hyperparathyroidism 4 |
|
Nephrolithiasis, Hypercalcemia |
OMIM:617343 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Abnormality of the uterus, Horsesh... |
OMIM:617805 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Failure to thrive, Precocious puberty, Hyponatremia, Cryptorchidism, Hyperkalemia, Renal salt was... |
OMIM:614736 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, Renal insufficiency, Hypercalcemia, Infantil... |
ORPHA:99879 |
Hypercalcemia, Infantile, 1 |
|
Nephrolithiasis, Failure to thrive, Polyuria, Hypercalciuria, Infantile hypercalcemia, Weight los... |
OMIM:143880 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Congenital Primary Megaureter |
|
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... |
ORPHA:617 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine |
ORPHA:94086 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Proteinuria, Renal insufficiency, Hypercalcemia |
ORPHA:2668 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
Adrenal Hypoplasia, Congenital |
|
Failure to thrive, Precocious puberty, Hypogonadotropic hypogonadism, Oligospermia, Hyponatremia,... |
OMIM:300200 |
Small Cell Carcinoma Of The Bladder |
|
Dysuria, Recurrent urinary tract infections, Hematuria, Hypercalcemia |
ORPHA:284400 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Micropenis, Hypospadias, Hypercalciuria, Hypercalcemia, Cryptorchidism |
OMIM:614732 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... |
ORPHA:94088 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Nephroblastoma, Renal cortical adenoma, Papillary renal cell carcinoma, Polycyst... |
OMIM:145001 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism |
ORPHA:3000 |
46,Xy Sex Reversal 4 |
|
Sex reversal, Hypoplasia of the uterus, Increased blood urea nitrogen, Hypergonadotropic hypogona... |
OMIM:154230 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hypercalciuria, Male infertility, Hyperphosphatemia, Hypocalcemic s... |
ORPHA:2239 |
Rhabdoid Tumor |
|
Renal neoplasm, Weight loss, Hematuria, Hypercalcemia |
ORPHA:69077 |
Igg4-Related Retroperitoneal Fibrosis |
|
Dysuria, Hydrocele testis, Nephrotic syndrome, Elevated circulating C-reactive protein concentrat... |
ORPHA:49041 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Failure to thrive, Hypomagnesemia, Chronic kidney disease, Polyuria, Hyperechogenic kidneys, Prot... |
OMIM:613845 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Myoglobinuria, ... |
ORPHA:94093 |
Renal Tubular Acidosis, Distal, 1 |
|
Nephrolithiasis, Hypokalemia, Hypocalcemia, Distal renal tubular acidosis, Elevated circulating c... |
OMIM:179800 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612925 |
Image Syndrome |
|
Hypospadias, Cryptorchidism, Hydronephrosis, Hypogonadism |
ORPHA:85173 |
Uremic Pruritus |
|
Chronic kidney disease, Increased blood urea nitrogen, Renal hypophosphatemia, Hypercalcemia, Hyp... |
ORPHA:94059 |
Macdermot-Winter Syndrome |
|
Hydronephrosis, Hypoplastic male external genitalia |
OMIM:247990 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Azoospermia, Ambiguous... |
ORPHA:261529 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Increased blood urea nitrogen, Macroscopic hematuria, Membranoproliferative glomerulonephritis, E... |
ORPHA:251004 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612922 |
Orthostatic Hypotension 1 |
|
Nocturia, Hypomagnesemia, Increased blood urea nitrogen, Retrograde ejaculation |
OMIM:223360 |
Non-Functioning Paraganglioma |
|
Elevated urinary dopamine, Hematuria, Weight loss, Hypercalcemia, Elevated urinary epinephrine, E... |
ORPHA:94080 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Chronic kidney disease, Elevated creatine kinase after exercise, Acute kidney injury, Hypercalcem... |
ORPHA:284426 |
Renal Hypoplasia |
|
Chronic kidney disease, Small for gestational age, Unilateral renal agenesis, Abnormal renal tubu... |
ORPHA:93101 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612926 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Failure to thrive, Ambiguous genitalia, female, Decreased fertility in males, Ambiguous genitalia... |
ORPHA:90791 |
Hypocalcemia, Autosomal Dominant 1 |
|
Nephrolithiasis, Hypomagnesemia, Hypokalemia, Hypocalcemia, Decreased glomerular filtration rate,... |
OMIM:601198 |
Central Diabetes Insipidus |
|
Failure to thrive, Weight loss, Nocturia, Hyponatremia |
ORPHA:178029 |
Pyruvate Carboxylase Deficiency |
|
Failure to thrive, Hyperlysinemia, Lacticaciduria, Hyperammonemia, Increased serum pyruvate, Hype... |
ORPHA:3008 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Failure to thrive, Stage 2 chronic kidney disease, Hypospadias, Recurrent urinary tract infection... |
OMIM:191800 |
Hypophosphatasia, Infantile |
|
Failure to thrive, Elevated plasma pyrophosphate, Phosphoethanolaminuria, Hypercalciuria, Hyperca... |
OMIM:241500 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Renal interstiti... |
ORPHA:85450 |
Corticosterone Methyloxidase Type I Deficiency |
|
Failure to thrive, Increased circulating renin level, Hyponatremia, Hyperkalemia, Renal salt wasting |
OMIM:203400 |
Juvenile Nephropathic Cystinosis |
|
Renal phosphate wasting, Failure to thrive, Chronic kidney disease, Hypophosphatemia, Hypokalemia... |
ORPHA:411634 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Small for gestational age, Renal agenesis, Hypercalciuria, Mucopolysacchariduria, H... |
OMIM:618440 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Failure to thrive, Increased circulating renin level, Hyponatremia, Hyperkalemia, Renal salt wasting |
OMIM:610600 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypophosp... |
OMIM:600740 |
Hereditary Coproporphyria |
|
Dark urine, Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic acid, Nephro... |
ORPHA:79273 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Polyuria, Increased circulating renin level, Hypercalciuria, Hyponatremia, Medullary... |
OMIM:300971 |
Spermatogenic Failure 2 |
|
Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility |
OMIM:108420 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Failure to thrive, Global glomerulosclerosis, Hypokalemia, Decreased glomerular filtration rate, ... |
OMIM:602522 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Hypocalci... |
OMIM:145981 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Nephrolithiasis, Hypocalciuria, Hypercalciuria, Hypercalcemia, Hypermagnesemia |
OMIM:145980 |
Oculocerebrodental Syndrome |
|
Hypocalcemia, Nephrocalcinosis, Hypercalcemia |
ORPHA:557003 |
Familial Glucocorticoid Deficiency |
|
Failure to thrive, Precocious puberty, Cryptorchidism, Leydig cell neoplasia, Recurrent urinary t... |
ORPHA:361 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Nephrolithiasis, Male infertility, Obstructive azoospermia, Spermatocele |
OMIM:301060 |
Acute Adrenal Insufficiency |
|
Failure to thrive, Decreased female libido, Increased circulating renin level, Renal insufficienc... |
ORPHA:95409 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Oligomenorrhea, Precocious puberty, Impotence, Hyponatremia |
ORPHA:91354 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
Dysmyelination With Jaundice |
|
Hydroureter, Cryptorchidism, Hypoplasia of penis, Hydronephrosis |
OMIM:224250 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Decreased circulating renin level, Hypernatriuria, Decreased serum creatinine, Hyponatremia |
OMIM:300539 |
Hypotonia-Cystinuria Syndrome |
|
Nephrolithiasis, Failure to thrive, Hypocalcemia, Cystinuria, Hypergonadotropic hypogonadism, Cys... |
OMIM:606407 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Failure to thrive, Hypokalemia, Decreased glomerular filtration rate, Increased urinary potassium... |
OMIM:613090 |
Hyperchlorhidrosis, Isolated |
|
Failure to thrive, Hyperkalemia, Hyponatremia |
OMIM:143860 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Ob... |
ORPHA:399805 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Hyperparathyroidism, Neonatal Severe |
|
Failure to thrive, Hypophosphatemia, Aminoaciduria, Polyuria, Hypercalciuria, Hypercalcemia, Calc... |
OMIM:239200 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Failure to thrive, Hyperkalemia, Hyponatremia, Renal salt wasting |
OMIM:264350 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Unilateral renal atrophy, Nephritis, Oligospermia, Renal dysplasia, Pyelonephritis, Cryptorchidism |
OMIM:314300 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Enlarged... |
OMIM:613496 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Nephrocalcinosis, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:146200 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... |
ORPHA:730 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis |
OMIM:618270 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... |
OMIM:143400 |
Late-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Increased circulating renin level, Hyponatremia, Renal sodium wasting, Hyperka... |
ORPHA:556037 |
Acute Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529808 |
Pseudohypoparathyroidism, Type Ib |
|
Obesity, Hypocalcemia, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration |
OMIM:603233 |
Cystinosis, Nephropathic |
|
Glycosuria, Hematuria, Proteinuria, Weight loss, Failure to thrive in infancy, Stage 5 chronic ki... |
OMIM:219800 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthinuria, Hyperxanthinemia, Hematuria, Uric ... |
ORPHA:3467 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Failure to thrive, Duplicated collecting system, Hydronephrosis |
OMIM:617093 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Abnormal renal morphology, Male infertility, Absent vas deferens, Obstructive azoos... |
ORPHA:48 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Elevated urinary dopamine, Hematuria, Weight loss, Proteinuria, Hypercalcemia, Elevated urinary e... |
ORPHA:276621 |
Familial Hypocalciuric Hypercalcemia |
|
Nephrolithiasis, Parathormone-independent increased renal tubular calcium reabsorption, Renal hyp... |
ORPHA:405 |
Parathyroid Carcinoma |
|
Nephrolithiasis, Hypophosphatemia, Uterine leiomyoma, Nephroblastoma, Testicular neoplasm, Hyperc... |
ORPHA:143 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Failure to thrive, Increased urinary potassi... |
OMIM:601678 |
Urofacial Syndrome 1 |
|
Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral valve, Urethral obstruc... |
OMIM:236730 |
Early-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Increased circulating renin level, Hyponatremia, Renal sodium wasting, Hyperka... |
ORPHA:556030 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Gray matter heterotopia, Micropenis, Elevated circulating creatine kinase concentration, Renal dy... |
OMIM:615287 |
Urofacial Syndrome 2 |
|
Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u... |
OMIM:615112 |
Bartter Syndrome Type 4 |
|
Hyperprostaglandinuria, Hypomagnesemia, Hypokalemia, Impaired renal concentrating ability, Chroni... |
ORPHA:89938 |
Thymic Neuroendocrine Tumor |
|
Weight loss, Hypercalcemia, Calcium nephrolithiasis |
ORPHA:97289 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Delayed menarche, Hypogonadotropic hypogonadism, Primary amenorrhea, Oligomen... |
ORPHA:52901 |
Hypophosphatasia |
|
Failure to thrive in infancy, Hypercalcemia |
ORPHA:436 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Hypercalciuria, Hypercalcemia, Hyperphosphaturia, Nephrocalcinosis |
OMIM:156400 |
Alpha-Heavy Chain Disease |
|
Hypocalcemia, Premature ovarian insufficiency |
ORPHA:100025 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephrolithiasis, Hypophosphatemia, Nephroblastoma, Testicular neoplasm, Hypercalciuria, Renal cys... |
ORPHA:99880 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Proteinuria, Hypercalcemia, Elevated urinary norepinephrine |
OMIM:171420 |
Hartsfield Syndrome |
|
Hypospadias, Cryptorchidism, Hypernatremia, Micropenis |
OMIM:615465 |
Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Polyuria, Hypokalemia, Hydronephrosis |
OMIM:304900 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Abnormality of the Leydig cells, Increased circulating renin level, Clitoral hypertrophy, Abnorma... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Abnormality of the Leydig cells, Increased circulating renin level, Clitoral hypertrophy, Abnorma... |
ORPHA:289548 |
Hinman Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Enuresis, Vesicoureteral... |
ORPHA:84085 |
Xanthinuria, Type I |
|
Xanthinuria, Hyperxanthinemia, Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis |
OMIM:278300 |
Multiple Myeloma |
|
Nephrotic syndrome, Hyperproteinemia, Nephropathy, Elevated circulating creatinine concentration,... |
ORPHA:29073 |
Ochoa Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obstruction, Cr... |
ORPHA:2704 |
Mirage Syndrome |
|
Decreased body weight, Hypergonadotropic hypogonadism, Hypospadias, Recurrent urinary tract infec... |
OMIM:617053 |
Addison Disease |
|
Failure to thrive, Decreased female libido, Increased circulating renin level, Hyponatremia, Hype... |
ORPHA:85138 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Infertility, Reduced sperm motility, Decreased testicular size, Abnormal sperm head morphology, A... |
ORPHA:320391 |
Posterior Urethral Valve |
|
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Recurrent urinary tract infections, ... |
ORPHA:93110 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hypocalcemia, Primary amenorrhea, Hypercholesterolemia |
OMIM:612526 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... |
ORPHA:399808 |
Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Polyuria, Renal dysplasia, Hypertriglyceridemia, Hypoalbuminemia, H... |
OMIM:618183 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... |
ORPHA:93108 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia |
OMIM:612089 |
Dopamine Beta-Hydroxylase Deficiency |
|
Increased blood urea nitrogen, Elevated urinary dopamine, Nocturia, Retrograde ejaculation, Eleva... |
ORPHA:230 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Increased blood urea nitrogen, Abnormal renal physiology, Elevated circulating creatinine concent... |
OMIM:274150 |
Monosomy 13Q34 |
|
Fetal pyelectasis, Infantile hypercalcemia, Obesity, Metrorrhagia |
ORPHA:96168 |
Lead Poisoning |
|
Renal tubular dysfunction, Infertility, Chronic kidney disease, Decreased male libido, Increased ... |
ORPHA:330015 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Elevated urinary dopamine, Hematuria, Renal cell carcinoma, Weight loss, Proteinuria, Hypercalcem... |
ORPHA:29072 |
Familial Hypoaldosteronism |
|
Failure to thrive, Proximal renal tubular acidosis, Increased circulating renin level, Hyponatrem... |
ORPHA:427 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Fanconi Anemia, Complementation Group O |
|
External genital hypoplasia, Renal cyst, Hydronephrosis, Cryptorchidism, Stage 5 chronic kidney d... |
OMIM:613390 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Bicornuate uterus, Renal agenesis, Aplasia/hypoplasia of the uterus, Renal dysplasia, Ectopic kid... |
ORPHA:2578 |
Vesicoureteral Reflux 3 |
|
Hydroureter, Vesicoureteral reflux, Hydronephrosis |
OMIM:613674 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia |
OMIM:615508 |
Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Failure to thrive, Hyponatremia |
OMIM:618426 |
Infantile Myofibromatosis |
|
Abnormality of the kidney, Hypercalcemia |
ORPHA:2591 |
Late-Onset Isolated Acth Deficiency |
|
Failure to thrive, Hyponatremia, Hypercalcemia, Hyperuricemia, Weight loss, Premature ovarian ins... |
ORPHA:199299 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Increased blood urea nitrogen, Elevated circulating creatinine concentration, Acu... |
OMIM:235400 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia, Aminoaciduria, Renal tubular atrophy, Hyposthenuria, Glycosuria, Hypercalciuria... |
OMIM:308990 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Recurrent myoglobinuria, Hypocalcemia, Oliguria, Hyperphosphatemia, Renal insufficien... |
ORPHA:99845 |
X-Linked Intellectual Disability, Schimke Type |
|
Vesicoureteral reflux, Failure to thrive in infancy, Hydronephrosis |
ORPHA:85285 |
Wolcott-Rallison Syndrome |
|
Chronic kidney disease, Decreased body weight, Hyperbilirubinemia, Hyperammonemia, Hypoalbuminemi... |
ORPHA:1667 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Increased erythrocyte protoporphyrin concentration, Increased urinary porphobilinogen, Purple uri... |
ORPHA:100924 |
Renal Cysts And Diabetes Syndrome |
|
Nephrolithiasis, Hypoplasia of the uterus, Atretic vas deferens, Bicornuate uterus, Reduced sperm... |
OMIM:137920 |
Myopathy, Congenital, Progressive, With Scoliosis |
|
Renal atrophy, Cryptorchidism, Hydronephrosis |
OMIM:618578 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Oliguria, Abnormal blood ion concent... |
ORPHA:31824 |
Cholera |
|
Hypokalemia, Hypocalcemia, Abnormality of renal excretion, Abnormal blood ion concentration, Acut... |
ORPHA:173 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypocalcemia, Unilateral renal agenesis, Uterus didelphys, Septate vagina, Renal dysplasia, Polyc... |
ORPHA:2237 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Precocious puberty, Congenital megaureter, Abnormality of the urinary system, Hypercalciuria, Ren... |
ORPHA:369837 |
Adenohypophysitis |
|
Amenorrhea, Impotence, Decreased male libido, Hyposthenuria, Hyponatremia, Decreased female libido |
ORPHA:95512 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Renal agenesis, Polymicrogyria, Renal hypoplasia, Hydronephrosis, Cryptorchidism |
OMIM:618494 |
Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Abnormal localization of kidney, Hydronephrosis |
ORPHA:195 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Ambiguous genitalia, female, Abnormal external genitalia, Long penis, Ambiguous genitalia, Testic... |
ORPHA:90794 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
Hypophosphatemic Rickets |
|
Renal phosphate wasting, Failure to thrive, Hypophosphatemia, Precocious puberty, Hypocalciuria, ... |
ORPHA:437 |
Cockayne Syndrome Type 1 |
|
Failure to thrive, Increased blood urea nitrogen, Renal insufficiency, Proteinuria, Male hypogona... |
ORPHA:90321 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
Snakebite Envenomation |
|
Acute kidney injury, Hyponatremia |
ORPHA:449285 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Chronic kidney disease, Impotence, Increased blood urea nitrogen, Hemoglobinuria, Glycosuria, Dec... |
ORPHA:447 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Failure to thrive, Hyperkalemia, Increased circulating renin level |
OMIM:177735 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Panhypophysitis |
|
Amenorrhea, Impotence, Decreased male libido, Hyposthenuria, Hyponatremia, Decreased female libido |
ORPHA:95513 |
Pheochromocytoma |
|
Elevated urinary norepinephrine, Proteinuria, Hypercalcemia, Renal artery stenosis |
OMIM:171300 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemia, Calcium nephrolithiasis, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:36913 |
Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Hypocalcemia |
ORPHA:172 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:94090 |
Porphyria Variegata |
|
Chronic kidney disease, Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic ... |
ORPHA:79473 |
47,Xyy Syndrome |
|
Micropenis, Hypospadias, Oligospermia, Varicocele, Male infertility, Azoospermia, Cryptorchidism,... |
ORPHA:8 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Hypospadias, Renal insufficiency, Hydronephrosis, Cryptorchidism, Failure to thrive in infancy |
OMIM:611209 |
Paget Disease Of Bone 2, Early-Onset |
|
Hydroxyprolinuria, Hypercalcemia |
OMIM:602080 |
Sheehan Syndrome |
|
Amenorrhea, Impotence, Dyspareunia, Hyposthenuria, Oligomenorrhea, Hyponatremia, Obesity, Decreas... |
ORPHA:91355 |
Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
Familial Isolated Hypoparathyroidism |
|
Hypocalcemia, Nephropathy |
ORPHA:2238 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Failure to thrive, Hypercalcemia, Urinary incontinence |
ORPHA:476126 |
8P23.1 Duplication Syndrome |
|
Hydronephrosis |
ORPHA:251076 |
Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia |
OMIM:240200 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia, Weight loss, Failure to thrive in ... |
ORPHA:171876 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Cryptorchidism, Hydronephrosis |
OMIM:619797 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Hydronephrosis |
OMIM:618240 |
Legionnaires Disease |
|
Renal insufficiency, Proteinuria, Hematuria, Hyponatremia |
ORPHA:549 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decrease... |
OMIM:614837 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Glomerular sclerosi... |
OMIM:223900 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Failure to thrive, Hypocalcemia, Small for gestational age, Micropenis, Hypospadias, Cryptorchidi... |
OMIM:607143 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Decreased body weight, Vesicoureteral reflux, Hydronephrosis |
OMIM:618265 |
Alport Syndrome 3, Autosomal Dominant |
|
Hypophosphatemia, Nephrotic syndrome, Nephritis, Azotemia, Hematuria, Thickened glomerular baseme... |
OMIM:104200 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Failure to thrive, Male pseudohermaphroditism, Endometrial carcinoma, Female external genitalia i... |
ORPHA:90790 |
Acute Intermittent Porphyria |
|
Dark urine, Dysuria, Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic aci... |
ORPHA:79276 |
Ring Chromosome 10 Syndrome |
|
Cachexia, Renal hypoplasia/aplasia, Hypocalcemia |
ORPHA:1438 |
Whipple Disease |
|
Cachexia, Erectile dysfunction, Hyponatremia |
ORPHA:3452 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Micropenis, Hyperphosphatemia, Cryptorchidism, Hypocalcemic seizures |
OMIM:241410 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Increased LDL c... |
OMIM:267700 |
Generalized Glucocorticoid Resistance Syndrome |
|
Infertility, Hypokalemia, Precocious puberty, Oligomenorrhea, Oligospermia, Ambiguous genitalia, ... |
ORPHA:786 |
Joubert Syndrome 37 |
|
Micropenis, Decreased testicular size, Hydronephrosis, Obesity, Cryptorchidism |
OMIM:619185 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypogonadism, Obesity, Low urinary cyclic AMP response to... |
OMIM:612462 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Long-chain dicarboxylic aciduria, Elevated circulating long chain fatty acid concentration, Hyper... |
OMIM:608836 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia, Nephropathy, Renal insufficiency |
ORPHA:1563 |
Multiple Endocrine Neoplasia Type 2 |
|
Nephrolithiasis, Elevated urinary vanillylmandelic acid, Elevated urinary catecholamines, Hyperca... |
ORPHA:653 |
Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
6P22 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:251046 |
Shigellosis |
|
Urethritis, Abnormal blood ion concentration, Acute kidney injury, Hyponatremia, Failure to thriv... |
ORPHA:810 |
Hyperkalemic Periodic Paralysis |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyponatremia, Hypokalemia |
ORPHA:682 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
Prune Belly Syndrome |
|
Cryptorchidism, Hydroureter, Hydronephrosis, Urethral valve, Congenital posterior urethral valve |
OMIM:100100 |
Joubert Syndrome 35 |
|
Multicystic kidney dysplasia, Renal fibrosis, Recurrent urinary tract infections, Hydronephrosis |
OMIM:618161 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Bicornuate uterus, Unilateral renal agenesis, Renal agenesis, Ectopic k... |
OMIM:601076 |
Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
Johanson-Blizzard Syndrome |
|
Failure to thrive, Abnormal vagina morphology, Hypoplasia of penis, Hypoproteinemia, Hypospadias,... |
ORPHA:2315 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia |
ORPHA:83601 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Ureteral atresia, Hydronephrosis |
OMIM:183802 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Failure to thrive, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:214700 |
Alg8-Cdg |
|
Failure to thrive, Hyponatremia, Small for gestational age |
ORPHA:79325 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hypokalemia, Hemoglobinuria, Elevated circulating creatinine concentration, Unconjugated hyperbil... |
ORPHA:90038 |
Oculocerebrorenal Syndrome Of Lowe |
|
Nephrolithiasis, Failure to thrive, Hypophosphatemia, Hypokalemia, Oligosacchariduria, Aminoacidu... |
ORPHA:534 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Calcinosis, Renal hypoplasia, Aminoaciduria, Hydronephrosis |
OMIM:617913 |
Gracile Bone Dysplasia |
|
Failure to thrive, Hypocalcemia, Micropenis |
OMIM:602361 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Micropenis, Ovarian cyst, Hypogonadotropic hypogonadism, Abnormality o... |
OMIM:228300 |
Diabetic Embryopathy |
|
Renal hypoplasia/aplasia, Micropenis, Ureteral duplication, Abnormal morphology of female interna... |
ORPHA:1926 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Cryptorchidism, Hydronephrosis |
OMIM:618060 |
Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Hypernatremia, Hypoalbuminemia, Anoperinea... |
OMIM:619381 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures, Low urinary cyclic A... |
ORPHA:94089 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypocalcemia, Hypoproteinemia, Micropenis, Abnormal renal morphology, Abnormal fallopian tube mor... |
ORPHA:1655 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Hydronephrosis |
OMIM:616449 |
Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Hydronephrosis |
OMIM:598500 |
Recombinant Chromosome 8 Syndrome |
|
Cryptorchidism, Hydronephrosis |
OMIM:179613 |
Igg4-Related Kidney Disease |
|
Abnormal ureter morphology, Elevated circulating C-reactive protein concentration, Urethritis, Ur... |
ORPHA:449395 |
Williams-Beuren Region Duplication Syndrome |
|
Unilateral renal agenesis, Cryptorchidism, Hydronephrosis |
OMIM:609757 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypogonadism, Obesity, Low urinary cyclic AMP response to... |
OMIM:103580 |
Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Oligomenorrhea, Impotence, Hyponatremia |
ORPHA:95613 |
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome |
|
Urogenital sinus anomaly, Renal hypoplasia/aplasia, Hydroureter, Multicystic kidney dysplasia, Ab... |
ORPHA:2973 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Hydronephrosis, Small scrotum |
ORPHA:2083 |
Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Hydronephrosis, Hypoplastic labia majora |
OMIM:619217 |
Alg12-Cdg |
|
Failure to thrive, Cryptorchidism, Micropenis, Hypospadias, Hypocholesterolemia, Hypoalbuminemia,... |
ORPHA:79324 |
Ciliary Dyskinesia, Primary, 12 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... |
OMIM:612650 |
9Q21.13 Microdeletion Syndrome |
|
Cryptorchidism, Gray matter heterotopia, Hydronephrosis |
ORPHA:531151 |
Distal Tetrasomy 15Q |
|
Hydrocele testis, Abnormal external genitalia, Abnormality of the kidney, Nephroblastoma, Large f... |
ORPHA:314588 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Immotile sperm |
OMIM:614874 |
Functioning Gonadotropic Adenoma |
|
Amenorrhea, Infertility, Impotence, Ovarian cyst, Oligospermia, Abnormality of the menstrual cycl... |
ORPHA:91348 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypocalcemia, Hypoproteinemia, Micropenis, Hydronephrosis, Cryptorchidism |
OMIM:235255 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Endove Syndrome, Limb-Brain Type |
|
Failure to thrive, Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis |
OMIM:619218 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperprostaglandinuria, Hypomagnesemia, Hypocalcemia, Abnormal renal tubular resorption, Hypercal... |
ORPHA:73224 |
Ciliary Dyskinesia, Primary, 14 |
|
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Abnormal axonemal organization ... |
OMIM:613807 |
Familial Dysautonomia |
|
Glomerulopathy, Abnormality of the kidney, Renal insufficiency, Hyponatremia |
ORPHA:1764 |
Trisomy 13 |
|
Abnormality of the ureter, Multiple renal cysts, Abnormal morphology of female internal genitalia... |
ORPHA:3378 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Nephrolithiasis, Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
Wolfram Syndrome 1 |
|
Hydroureter, Testicular atrophy, Neurogenic bladder, Hydronephrosis |
OMIM:222300 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Abnormality of the urinary system, Abnormal ... |
ORPHA:1834 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Micropenis, Small for gestational age, Hypospadias, Elevated circulating creatine kinase concentr... |
OMIM:301056 |
Distal Trisomy 6P |
|
Abnormality of the urinary system, Renal hypoplasia, Hydronephrosis |
ORPHA:1745 |
Fibrous Dysplasia Of Bone |
|
Precocious puberty in females, Hypophosphatemia, Ovarian cyst, Testicular neoplasm, Hypercalcemia |
ORPHA:249 |
Suleiman-El-Hattab Syndrome |
|
Failure to thrive, Cryptorchidism, Hydronephrosis |
OMIM:618950 |
Androgen Insensitivity, Partial |
|
Infertility, Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogona... |
OMIM:312300 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemia, Hypergonadotropic hypogonadism, Oligomenorrhea, Hypocalcemic tetany, Hyperphosphate... |
ORPHA:79444 |
Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia |
ORPHA:1930 |
Williams Syndrome |
|
Proteinuria, Polycystic ovaries, Failure to thrive in infancy, Nephrolithiasis, Bladder diverticu... |
ORPHA:904 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Aplasia of the bladder, Ureterocele, Abnormality of the urinary system, Abnormality of the urethr... |
ORPHA:158684 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Hypertriglyceri... |
OMIM:603553 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Cryptorchidism, Micropenis, Decreased testicular size, Hypogonadism, Hydronephrosis, Pachygyria |
OMIM:612513 |
Toluene Embryopathy |
|
Cryptorchidism, Abnormal localization of kidney, Hydronephrosis |
ORPHA:1920 |
Vacterl/Vater Association |
|
Hypoplasia of penis, Bifid scrotum, Renal agenesis, Hypospadias, Abnormality of the urethra, Mult... |
ORPHA:887 |
Micro Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Clitoral hypoplasia, Hypoplastic labia minora, Lissencephaly... |
ORPHA:2510 |
Gapo Syndrome |
|
Nephrolithiasis, Amenorrhea, Dysmenorrhea, Oligospermia, Hypogonadism |
ORPHA:2067 |
Igg4-Related Aortitis |
|
Weight loss, Elevated circulating C-reactive protein concentration, Hydronephrosis |
ORPHA:449400 |
Multiple Endocrine Neoplasia Type 4 |
|
Renal angiomyolipoma, Testicular neoplasm, Cervix cancer, Hypercalcemia, Increased urinary cortis... |
ORPHA:276152 |
Multiple Endocrine Neoplasia Type 1 |
|
Nephrolithiasis, Amenorrhea, Impotence, Decreased male libido, Hypercalciuria, Hypercalcemia, Wei... |
ORPHA:652 |
Bor Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Renal... |
ORPHA:107 |
Ciliary Dyskinesia, Primary, 26 |
|
Infertility, Absent outer dynein arms, Reduced sperm motility |
OMIM:615500 |
Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility |
OMIM:612649 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Failure to thrive, Polymicrogyria, Hydronephrosis |
ORPHA:488613 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Desmoid Tumor |
|
Abnormality of the upper urinary tract, Hydronephrosis |
ORPHA:873 |
Zellweger Syndrome |
|
Failure to thrive, Hypospadias, Multicystic kidney dysplasia, Polymicrogyria, Clitoral hypertroph... |
ORPHA:912 |
Sanjad-Sakati Syndrome |
|
Cryptorchidism, Hypocalcemia, Hyperphosphatemia, Hypoplasia of penis |
ORPHA:2323 |
Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Cachexia, Abnormal urine potassium concentration, Hypertriglyceridemia, Hypern... |
ORPHA:275761 |
Trisomy 1Q |
|
Congenital megaureter, Multicystic kidney dysplasia, Ambiguous genitalia, Hydronephrosis, Cryptor... |
ORPHA:261344 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hypocalcemia, Nephrotic range proteinuria, Hyperkalemia, Oliguria, Acute kidney injury, Hyponatre... |
ORPHA:544482 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Polymicrogyria, Renal cyst, Renal hypoplasia, Hydronephrosis, Cryptorchidism, Vesicoureteral refl... |
OMIM:618454 |
Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Hydronephrosis |
OMIM:220210 |
Necrotizing Enterocolitis |
|
Hyponatremia, Small for gestational age |
ORPHA:391673 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia |
ORPHA:199296 |
Mastocytosis |
|
Hypercalcemia |
ORPHA:98292 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Weight loss |
ORPHA:398063 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Small for gestational age, Hydronephrosis, Micropenis |
OMIM:616897 |
Hepatocellular Carcinoma |
|
Hypokalemia, Hyperbilirubinemia, Hypoalbuminemia, Hypercalcemia, Hyponatremia, Weight loss |
ORPHA:88673 |
Tetraploidy |
|
Renal hypoplasia/aplasia, Hydronephrosis |
ORPHA:3305 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Slender build, Cryptorchidism, Hydronephrosis, Micropenis |
ORPHA:364028 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis |
OMIM:613735 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Weight loss, Hypercalcemia |
ORPHA:913 |
Autosomal Dominant Hypocalcemia |
|
Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hyperphosphatemia, Hypermagnesiuria, Nephrocalcinosis |
ORPHA:428 |
Autosomal Recessive Polycystic Kidney Disease |
|
Reduced renal corticomedullary differentiation, Recurrent urinary tract infections, Enlarged kidn... |
ORPHA:731 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Failure to thrive, Gray matter heterotopia, Aminoaciduria, Elevated circulating long chain fatty ... |
OMIM:214100 |
Holoprosencephaly |
|
Hypoplasia of penis, Abnormality of the urinary system, Proteinuria, Hyponatremia, Abnormality of... |
ORPHA:2162 |
Myotonic Dystrophy 2 |
|
Oligospermia, Elevated circulating creatine kinase concentration, Hypogonadism |
OMIM:602668 |
22Q11.2 Duplication Syndrome |
|
Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis |
ORPHA:1727 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Hypomagnesemia, Hypokalemia, Hypocalcemia |
OMIM:175500 |
Williams-Beuren Syndrome |
|
Bladder diverticulum, Micropenis, Recurrent urinary tract infections, Hypercalciuria, Abnormal re... |
OMIM:194050 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Failure to thrive, Simplified gyral pattern, Hydronephrosis, Pachygyria |
OMIM:619179 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Failure to thrive, Hypophosphatemia, Hypocalcemia, Generalized aminoaciduria, Hypocalcemic seizures |
ORPHA:289157 |
Primary Hyperoxaluria Type 3 |
|
Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Ab... |
ORPHA:93600 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Aplasia of the bladder, Ureterocele, Urethral stricture, Hematuria, Renal duplication, Renal dysp... |
ORPHA:79403 |
Noonan Syndrome 4 |
|
Large for gestational age, Cryptorchidism, Ureteral duplication, Hydronephrosis |
OMIM:610733 |
Ethylene Glycol Poisoning |
|
Renal tubular dysfunction, Hypocalcemia, Hematuria, Renal insufficiency, Decreased urine output, ... |
ORPHA:31826 |
Timothy Syndrome |
|
Hypocalcemia |
OMIM:601005 |
Oncogenic Osteomalacia |
|
Renal phosphate wasting, Hyperphosphaturia, Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... |
ORPHA:251510 |
Sarcoidosis |
|
Nephrolithiasis, Hypercalciuria, Tubulointerstitial nephritis, Renal insufficiency, Hypercalcemia... |
ORPHA:797 |
Atresia Of Urethra |
|
Hydroureter, Recurrent urinary tract infections, Bladder fistula, Renal dysplasia, Renal insuffic... |
ORPHA:105 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Cryptorchidism, Horseshoe kidney, Ectopic kidney, Hypoalbuminemia, Hydronephrosis, Pachygyria, Ve... |
OMIM:235510 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Micropenis, Hypospadias, Renal cyst, Renal insufficiency, Hydronephrosis, Ob... |
ORPHA:261494 |
Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
Pseudohypoparathyroidism Type 1A |
|
Hypocalcemia, Hypergonadotropic hypogonadism, Oligomenorrhea, Hypocalcemic tetany, Hyperphosphate... |
ORPHA:79443 |
3C Syndrome |
|
Abnormality of neuronal migration, Hypospadias, Hypoplasia of penis, Hydronephrosis |
ORPHA:7 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Weight loss, Hypocalcemia |
ORPHA:47 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Immotile sperm, Absent respiratory ciliary axoneme radial spokes |
OMIM:242670 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Small for gestational age, Elevated circulating cr... |
ORPHA:26793 |
Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Failure to thrive, Hydrocele testis, Hypocalcemia, ... |
OMIM:619991 |
Goodpasture Syndrome |
|
Cylindruria, Increased blood urea nitrogen, Macroscopic hematuria, Glomerular crescent formation,... |
OMIM:233450 |
Chromosome 17Q12 Deletion Syndrome |
|
Unilateral renal agenesis, Ovarian cyst, Multicystic kidney dysplasia, Hypoplasia of the bladder,... |
OMIM:614527 |
Partial Androgen Insensitivity Syndrome |
|
Urogenital sinus anomaly, Aplasia of the ovary, Blind vagina, Micropenis, Bifid scrotum, Hypospad... |
ORPHA:90797 |
Ciliary Dyskinesia, Primary, 15 |
|
Infertility, Abnormal axonemal organization of respiratory motile cilia, Immotile sperm |
OMIM:613808 |
Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Elevated circulating creatine kinase concentration, Recurrent urinary tract infecti... |
ORPHA:36234 |
Sotos Syndrome |
|
Hydrocele testis, Cryptorchidism, Renal agenesis, Hypospadias, Abnormality of the kidney, Uretera... |
ORPHA:821 |
Carpenter Syndrome 1 |
|
Precocious puberty, External genital hypoplasia, Hydroureter, Hydronephrosis, Obesity, Cryptorchi... |
OMIM:201000 |
Lethal Congenital Contracture Syndrome 2 |
|
Hydronephrosis |
OMIM:607598 |
Koolen-De Vries Syndrome |
|
Hypospadias, Renal duplication, Ureteral duplication, Hydronephrosis, Cryptorchidism, Vesicourete... |
ORPHA:96169 |
Vipoma |
|
Weight loss, Hypokalemia, Hypercalcemia |
ORPHA:97282 |
Trisomy 17P |
|
Hypoplasia of penis, Polycystic kidney dysplasia, Urethral stenosis, Hydronephrosis, Urethral valve |
ORPHA:261290 |
2P15P16.1 Microdeletion Syndrome |
|
Failure to thrive, Multicystic kidney dysplasia, Decreased testicular size, Hydronephrosis, Hypog... |
ORPHA:261349 |
Mckusick-Kaufman Syndrome |
|
Urogenital sinus anomaly, Failure to thrive, Renal hypoplasia/aplasia, Hydrometrocolpos, Glandula... |
ORPHA:2473 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypomagnesemia, Hypocalcemia, Nephrotic syndrome, Cachexia, Decreased prealbumin level, Membranou... |
ORPHA:37042 |
Craniofacioskeletal Syndrome |
|
Hypospadias, Cryptorchidism, Hypocalcemia, Hydronephrosis |
OMIM:300712 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hydronephrosis, Duplicated collecting system, Decreased serum zinc |
ORPHA:541423 |
Microphthalmia, Syndromic 9 |
|
Hypoplasia of the uterus, Bicornuate uterus, Renal hypoplasia, Horseshoe kidney, Hydronephrosis, ... |
OMIM:601186 |
Trisomy 20P |
|
Hypospadias, Abnormality of the ureter, Abnormality of the kidney, Multiple renal cysts, Abnormal... |
ORPHA:261318 |
Celiac Disease, Susceptibility To, 1 |
|
Failure to thrive, Weight loss, Hypocalcemia, Infertility |
OMIM:212750 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Periventricular heterotopia, Hypocalcemia |
OMIM:618476 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Hydrocele testis, Ureteral hypoplasia, Bladder trabeculation, Ureteral duplication, Renal dysplas... |
OMIM:614080 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Multiple renal cysts, Renal dysplasia, Abnormal fallopian tube morphology, A... |
ORPHA:99776 |
Ciliary Dyskinesia, Primary, 22 |
|
Infertility, Absent inner and outer dynein arms, Reduced sperm motility |
OMIM:615444 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Failure to thrive, Hyponatremia |
ORPHA:293978 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Hydronephrosis |
OMIM:300048 |
Netherton Syndrome |
|
Ectopic kidney, Hydronephrosis, Aminoaciduria |
ORPHA:634 |
Ppoma |
|
Weight loss, Hypercalcemia |
ORPHA:97278 |
Albers-Schönberg Osteopetrosis |
|
Hypocalcemia |
ORPHA:53 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypocalcemia, Hyperbilirubinemia, Micropenis, Hypospadias, Hydronephrosis, Cryptorchidism |
ORPHA:163979 |
Oeis Complex |
|
Labial hypoplasia, Vesicovaginal fistula, Ambiguous genitalia, female, Ambiguous genitalia, male,... |
OMIM:258040 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Dysuria, Failure to thrive, Ureterocele, Hydroureter, Ureteral obstruction, Urethral stricture, M... |
ORPHA:79404 |
Cardiac Valvular Dysplasia 1 |
|
Hydroureter, Hydronephrosis, Urethral diverticulum |
OMIM:212093 |
Gitelman Syndrome |
|
Failure to thrive, Hypomagnesemia, Hypocalcemia, Hypokalemia, Renal tubular acidosis, Nocturia, F... |
ORPHA:358 |
Marden-Walker Syndrome |
|
Failure to thrive, Renal hypoplasia/aplasia, Abnormal penis morphology, Hypospadias, Hydroureter,... |
ORPHA:2461 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Abnormality of the kidney, Male pseudohermaphroditism, Recurrent urinary tra... |
ORPHA:847 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Clitoral hypertrophy, Hydronephrosis, Cryptorchidism, Small scrotum |
ORPHA:85201 |
Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
ORPHA:2496 |
Pituitary Dermoid And Epidermoid Cysts |
|
Amenorrhea, Oligomenorrhea, Oligospermia, Hypogonadism |
ORPHA:91351 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Cryptorchidism, Hydronephrosis |
ORPHA:457193 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Failure to thrive, Elevated circulating creatine kinase concentration, Neurogenic bladder, Hydron... |
OMIM:608779 |
Tarp Syndrome |
|
Failure to thrive, Horseshoe kidney, Hydronephrosis |
OMIM:311900 |
Erdheim-Chester Disease |
|
Dysuria, Hypogonadotropic hypogonadism, Renal insufficiency, Hydronephrosis, Weight loss |
ORPHA:35687 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Failure to thrive, Hydronephrosis, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol |
OMIM:302960 |
Somatostatinoma |
|
Weight loss, Hypercalcemia |
ORPHA:97283 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia |
OMIM:131100 |
Osteopetrosis With Renal Tubular Acidosis |
|
Nephrolithiasis, Failure to thrive, Hypocalcemia, Renal tubular acidosis, Proximal renal tubular ... |
ORPHA:2785 |
Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydrometrocolpos, Hydroureter, Transverse vaginal septum, Polycystic kidne... |
OMIM:236700 |
Microphthalmia, Lenz Type |
|
Renal hypoplasia/aplasia, Hypospadias, Hydroureter, Hydronephrosis, Cryptorchidism |
ORPHA:568 |
Grfoma |
|
Weight loss, Hypercalcemia |
ORPHA:97261 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypomagnesemia, Hypocalcemia |
OMIM:244460 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal external genitalia, Micropenis, Unilateral renal agenesis, Hypospadias, Abnormality of t... |
ORPHA:95699 |
Encephalocraniocutaneous Lipomatosis |
|
Pelvic kidney, Cryptorchidism, Hydronephrosis |
OMIM:613001 |
Penile Agenesis |
|
Urethral atresia, male, Urethral fistula, Cryptorchidism, Bilateral renal hypoplasia, Hydroureter... |
ORPHA:49 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Weight loss |
ORPHA:90362 |
Granulomatosis With Polyangiitis |
|
Prostatitis, Elevated circulating C-reactive protein concentration, Ureteral stenosis, Hematuria,... |
ORPHA:900 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hypocalcemia, Hypospadias, Hyperphosphatemia, Hypogonadism, Obesity, Cryptorchidism |
ORPHA:280651 |
Koolen-De Vries Syndrome |
|
Failure to thrive, Gray matter heterotopia, Small for gestational age, Recurrent urinary tract in... |
OMIM:610443 |
Kury-Isidor Syndrome |
|
Hydronephrosis |
OMIM:619762 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Failure to thrive, Micropenis, Unilateral renal agenesis, Hypospadias, Small for gestational age,... |
ORPHA:464311 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Failure to thrive, Abnormality of the upper urinary tract, Hydroureter, Polymicrogyria, Lissencep... |
ORPHA:2995 |
Glucagonoma |
|
Weight loss, Hypercalcemia |
ORPHA:97280 |
Zaki Syndrome |
|
Renal agenesis, Hydronephrosis |
OMIM:619648 |
Czeizel-Losonci Syndrome |
|
Abnormality of the urinary system, Hydronephrosis, Ureteral agenesis, Congenital megaureter |
ORPHA:2437 |
Diphallia |
|
Distal urethral duplication, Cryptorchidism, Bifid scrotum, Hypospadias, Rectoperineal fistula, U... |
ORPHA:227 |
Pearson Syndrome |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypokalemia, Lacticaciduria, Small for gestationa... |
ORPHA:699 |
Fryns Syndrome |
|
Bicornuate uterus, Hypospadias, Multicystic kidney dysplasia, Hydronephrosis, Cryptorchidism, Ves... |
ORPHA:2059 |
Pallister-Hall Syndrome |
|
Distal urethral duplication, Precocious puberty, Micropenis, Hydroureter, Renal dysplasia, Renal ... |
OMIM:146510 |
8P Inverted Duplication/Deletion Syndrome |
|
Precocious puberty, Micropenis, Abnormality of the urinary system, Hydronephrosis, Cryptorchidism |
ORPHA:96092 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Nephrolithiasis, Functional abnormality of the bladder, Horseshoe kidney, Hydronephrosis, Cryptor... |
ORPHA:2953 |
Pelvis-Shoulder Dysplasia |
|
Ambiguous genitalia, Hydronephrosis |
ORPHA:2839 |
Osteopetrosis, Autosomal Recessive 1 |
|
Failure to thrive, Hypocalcemia |
OMIM:259700 |
Mosaic Trisomy 8 |
|
Decreased testicular size, Cryptorchidism, Vesicoureteral reflux, Hydronephrosis |
ORPHA:96061 |
Ciliary Dyskinesia, Primary, 5 |
|
Reduced sperm motility |
OMIM:608647 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Cryptorchidism, Hydronephrosis, Micropenis |
OMIM:617798 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... |
OMIM:278850 |
Takenouchi-Kosaki Syndrome |
|
Unilateral renal agenesis, Hypospadias, Cryptorchidism, Hydronephrosis |
OMIM:616737 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Obesity, Precocious puberty, Hydronephrosis, Moderate albuminuria |
OMIM:619269 |
Japanese Encephalitis |
|
Hyponatremia |
ORPHA:79139 |
Kabuki Syndrome |
|
Failure to thrive, Renal hypoplasia/aplasia, Precocious puberty, Hypoplasia of penis, Hypospadias... |
ORPHA:2322 |
Melnick-Needles Syndrome |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:2484 |
Bloom Syndrome |
|
Abdominal obesity, Small for gestational age, Oligospermia, Recurrent urinary tract infections, N... |
ORPHA:125 |
Campomelic Dysplasia |
|
Ambiguous genitalia, Male pseudohermaphroditism, Hydronephrosis |
ORPHA:140 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormality of bladder morphology, Failure to thrive, Gray matter heterotopia, Hydronephrosis, Cr... |
ORPHA:453499 |
Duane-Radial Ray Syndrome |
|
Renal agenesis, Crossed fused renal ectopia, Renal hypoplasia, Horseshoe kidney, Hydronephrosis, ... |
OMIM:607323 |
7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Unilateral renal agenesis, Hypospadias, Aplasia/hypoplasia of the uterus, Aplasia... |
ORPHA:96121 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Micropenis, Renal agenesis, Hypospadias, Shawl scrotum, Hydronephrosis, Cryptorchidism |
OMIM:301040 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Failure to thrive, Oligospermia, Clitoral hypoplasia, Small for gestational age |
OMIM:614813 |
Carey-Fineman-Ziter Syndrome |
|
Glandular hypospadias, Hydronephrosis |
ORPHA:1358 |
Smith-Lemli-Opitz Syndrome |
|
Periventricular heterotopia, Ambiguous genitalia, Small scrotum, Precocious puberty, Unilateral r... |
OMIM:270400 |
Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia, Hyponatremia |
ORPHA:167 |
1Q21.1 Microdeletion Syndrome |
|
Failure to thrive, Cryptorchidism, Vesicoureteral reflux, Hydronephrosis |
ORPHA:250989 |
Intellectual Disability, Buenos-Aires Type |
|
Hydronephrosis |
ORPHA:3079 |
Branchio-Oculo-Facial Syndrome |
|
Renal agenesis, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:1297 |
Feingold Syndrome Type 1 |
|
Nephritis, Abnormality of the kidney, Renal dysplasia, Horseshoe kidney, Renal insufficiency, Hyd... |
ORPHA:391641 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Megacystis, Hydroureter, Hydronephrosis, Fetal megacystis |
OMIM:619362 |
Baller-Gerold Syndrome |
|
Abnormality of the ureter, Abnormal localization of kidney, Hydronephrosis, Vesicoureteral reflux... |
ORPHA:1225 |
Cousin Syndrome |
|
Ambiguous genitalia, female, Ambiguous genitalia, male, Hydronephrosis |
OMIM:260660 |
Khan-Khan-Katsanis Syndrome |
|
Failure to thrive, Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis |
OMIM:618460 |
46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, Hypospadias, Ovotestis, Clitoral hypertrophy, True hermaphroditi... |
OMIM:400045 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Bladder diverticulum, Ureterocele, Micropenis, Hypogonadotropic hypogonadism, Hydroureter, Renal ... |
OMIM:604292 |
Primary Ciliary Dyskinesia |
|
Female infertility, Abnormal sperm motility, Male infertility |
ORPHA:244 |
Nijmegen Breakage Syndrome |
|
Premature ovarian insufficiency, Recurrent urinary tract infections, Hydronephrosis |
OMIM:251260 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Absent external genitalia, Hydronephrosis, Aplasia of the uterus, Aplasia of th... |
OMIM:271520 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Obesity, Hyperlipidemia, Hyponatremia, Enuresis |
ORPHA:293987 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Failure to thrive, Micropenis, Unilateral renal agenesis, Hypospadias, Small for gestational age,... |
ORPHA:464306 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Micropenis, Hydronephrosis, Pelvic kidney, Obesity, Cryptorchidism, Vesicoureteral reflux |
OMIM:618653 |
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies |
|
Ureteropelvic junction obstruction, Renal hypoplasia, Failure to thrive in infancy, Hydronephrosis |
OMIM:618975 |
Double Outlet Right Ventricle |
|
Failure to thrive, Hypocalcemia |
ORPHA:3426 |
Thakker-Donnai Syndrome |
|
Rectovaginal fistula, Hydronephrosis |
ORPHA:1780 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Megacystis, Hydroureter, Hydronephrosis |
OMIM:619431 |
Al-Gazali Syndrome |
|
Failure to thrive, Hydronephrosis |
OMIM:609465 |
Pfeiffer Syndrome Type 3 |
|
Vesicoureteral reflux, Horseshoe kidney, Hydronephrosis |
ORPHA:93260 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypocalcemia, Failure to thrive in infancy |
ORPHA:746 |
Trisomy 18 |
|
Cachexia, Abnormality of the upper urinary tract, Abnormal morphology of female internal genitali... |
ORPHA:3380 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated circulating creatine kinase concentration, Hydronephrosis |
OMIM:614921 |
Cerebellar-Facial-Dental Syndrome |
|
Failure to thrive, Ureteropelvic junction obstruction, Cryptorchidism, Hydronephrosis |
ORPHA:444072 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Abnormal cortical gyration, Hydronephrosis, Renal dysplasia |
OMIM:300968 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Hydronephrosis |
ORPHA:35173 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
15Q Overgrowth Syndrome |
|
Nephroblastoma, Abnormal renal morphology, Horseshoe kidney, Ureterovesical stenosis, Hydronephrosis |
ORPHA:314585 |
Raine Syndrome |
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Hydroureter, Hypophosphatemia, Hydronephrosis |
OMIM:259775 |
Opitz Gbbb Syndrome |
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Bicornuate uterus, Bifid scrotum, Hypospadias, Abnormality of the urinary system, Enlarged ovarie... |
ORPHA:2745 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
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Bladder diverticulum, Ureterocele, Micropenis, Hypogonadotropic hypogonadism, Hydroureter, Renal ... |
OMIM:129900 |
Otopalatodigital Syndrome Type 2 |
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Hypospadias, Ureteral obstruction, Failure to thrive, Hydronephrosis |
ORPHA:90652 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
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Hydrocele testis, Unilateral renal dysplasia, Congenital megaureter, Elevated alpha-fetoprotein, ... |
ORPHA:280633 |
Hyperphosphatasia-Intellectual Disability Syndrome |
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Hydronephrosis |
ORPHA:247262 |
Schinzel-Giedion Midface Retraction Syndrome |
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