Spermatogenic Failure 5 |
|
Male infertility, Functional abnormality of male internal genitalia |
OMIM:243060 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Renal hypoplasia, Chronic kidney disease, Hyperuricemia, Tubulointerstitial fibrosis... |
OMIM:613092 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Parathyroid carcinoma, Recurrent pancreatitis, Nephrolithiasis, Hypercalcemia, Renal cortical ade... |
OMIM:145001 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Renal tubular acidosis, Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Failure to thrive, Hyper... |
OMIM:239199 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility |
OMIM:619672 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619646 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Hyperparathyroidism 4 |
|
Parathyroid carcinoma, Primary hyperparathyroidism, Nephrolithiasis, Hypercalcemia |
OMIM:617343 |
Hypouricemia, Renal, 1 |
|
Acute kidney injury, Hypouricemia, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, ... |
OMIM:220150 |
Spermatogenic Failure 43 |
|
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 46 |
|
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... |
OMIM:619095 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Spermatogenic Failure 3 |
|
Infertility |
OMIM:606766 |
Spermatogenic Failure 17 |
|
Infertility |
OMIM:617214 |
Oocyte Maturation Defect 3 |
|
Infertility |
OMIM:617712 |
Spermatogenic Failure 27 |
|
Infertility |
OMIM:617965 |
Oocyte Maturation Defect 4 |
|
Infertility |
OMIM:617743 |
Oocyte Maturation Defect 5 |
|
Infertility |
OMIM:617996 |
Spermatogenic Failure 1 |
|
Oligospermia, Cryptozoospermia, Male infertility |
OMIM:258150 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia, Proteinuria, Glomerulopathy, Renal insufficiency, Hyperparathyroidism |
ORPHA:2668 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Nephrotic Syndrome, Type 6 |
|
Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis, Hypoalbuminemia, Focal segmental gl... |
OMIM:614196 |
Spermatogenic Failure 48 |
|
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619108 |
Deafness-Infertility Syndrome |
|
Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
Interstitial Nephritis, Karyomegalic |
|
Glycosuria, Nephronophthisis, Elevated circulating creatinine concentration, Hematuria, Proteinur... |
OMIM:614817 |
Spermatogenic Failure 47 |
|
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm |
OMIM:619102 |
Spermatogenic Failure 58 |
|
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... |
OMIM:619585 |
Spermatogenic Failure 40 |
|
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... |
OMIM:618664 |
Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Nephrocalcinosis, Hypercalcemia |
OMIM:211000 |
Xanthinuria, Type Ii |
|
Hypouricemia, Nephrolithiasis, Renal insufficiency |
OMIM:603592 |
Hereditary Xanthinuria |
|
Hematuria, Acute kidney injury, Xanthinuria, Hydronephrosis, Decreased urinary urate, Hypouricemi... |
ORPHA:3467 |
Spermatogenic Failure, X-Linked, 3 |
|
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... |
OMIM:301059 |
Hypercalcemia, Infantile, 2 |
|
Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Polyuria, Failure to thrive, Medullary nephrocal... |
OMIM:616963 |
Spermatogenic Failure 56 |
|
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... |
OMIM:619515 |
Familial Isolated Hyperparathyroidism |
|
Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Infantile hypercalcemia, Parathyroid adenoma, Hy... |
ORPHA:99879 |
Spermatogenic Failure 41 |
|
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm |
OMIM:618670 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Nephrocalcinosis, Glomerular sclerosis, Nephrolithiasis, Proximal tubulopathy, Hypercalciuria, Ch... |
OMIM:310468 |
Spermatogenic Failure 65 |
|
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... |
OMIM:619712 |
Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... |
ORPHA:529970 |
Hereditary Renal Hypouricemia |
|
Uric acid urolithiasis independent of gout, Abnormal renal tubule morphology, Hematuria, Hyperuri... |
ORPHA:94088 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... |
OMIM:618745 |
Spermatogenic Failure 39 |
|
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... |
OMIM:618643 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Abnormal renal tubule morphology, Hyperuricemia, Multiple glomerular cysts, Renal insufficiency |
OMIM:609886 |
Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
Spermatogenic Failure 64 |
|
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility |
OMIM:619696 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619528 |
Hypouricemia, Renal, 2 |
|
Nephrolithiasis, Hypouricemia |
OMIM:612076 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Glycosuria, Large for gestational age, Nephrocalcinosis, Proteinuria, Hyperphosphaturia, Hypouric... |
OMIM:616026 |
Spermatogenic Failure 54 |
|
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... |
OMIM:619379 |
Spermatogenic Failure 50 |
|
Azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619145 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
Spermatogenic Failure 63 |
|
Oligospermia, Male infertility, Reduced progressive sperm motility |
OMIM:619689 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Glomerular sclerosis, Elevated circulating creatinine concentration, Decreased glomerular filtrat... |
OMIM:174000 |
Tubulointerstitial Nephritis With Uveitis |
|
Acute tubulointerstitial nephritis, Uveitis, Elevated circulating creatinine concentration, Glome... |
OMIM:607665 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Nephrolithiasis, Hypercalcemia, Hyperparathyroidism, Hypercalciuria, Parathyroid adenoma, Pancrea... |
OMIM:145980 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormal urine carbohydrate level, Abnormality o... |
ORPHA:2843 |
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion |
|
Abnormal circulating calcium concentration, Abnormality of the parathyroid gland, Secondary hyper... |
ORPHA:140286 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Intrauterine growth retardation, Hypercalcemia, Micropenis, Hypercalciuria, Cryptorchidism, Adren... |
OMIM:614732 |
Thymic Neuroendocrine Tumor |
|
Weight loss, Hypercalcemia, Pituitary prolactin cell adenoma, Primary hyperparathyroidism, Increa... |
ORPHA:97289 |
Parathyroid Carcinoma |
|
Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia |
OMIM:608266 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Hypercalcemia, Blue urine, Decreased circulating T4 level, Hyperphosphatemia, E... |
ORPHA:94086 |
Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration, Proteinuria, Nephritis, Microscopic hematuria, Ren... |
OMIM:161900 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Elevated circulating acylcarnitine concentration, Tubulointerstitial nephritis, Red-brown urine, ... |
ORPHA:228302 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemic rickets, Short stature, Parathyroid hyperplasia, Hyperparathyroid... |
OMIM:612089 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Fanconi-Bickel Syndrome |
|
Generalized aminoaciduria, Glycosuria, Hypokalemia, Renal tubular dysfunction, Hyperphosphaturia,... |
OMIM:227810 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Hypercalcemia, Acute kidney injury |
ORPHA:33111 |
Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Thickened glomerular basement membr... |
OMIM:615862 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypercalciuria, Hypouricemia |
OMIM:242050 |
Juvenile Nephropathic Cystinosis |
|
Glycosuria, Hypokalemia, Hypothyroidism, Elevated circulating creatinine concentration, Proteinur... |
ORPHA:411634 |
Partial Chromosome Y Deletion |
|
Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia, Oligospermia |
ORPHA:1646 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Elevated circulating creatinine concentration, Proteinuria, Rhizomelia, Renal hypoplasia, Glomeru... |
OMIM:614376 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Gout, Enuresis, Tubulointerstitial nephritis, Hyperuricemia... |
OMIM:603860 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Renal cyst, Intrauterine growth retardation, Chronic kidney disease, Hyperuricemia, Short stature... |
OMIM:617056 |
Hyperparathyroidism 1 |
|
Primary hyperparathyroidism, Hypercalcemia |
OMIM:145000 |
Spermatogenic Failure 35 |
|
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella |
OMIM:618153 |
Spermatogenic Failure 18 |
|
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella |
OMIM:617576 |
Spermatogenic Failure 20 |
|
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella |
OMIM:617593 |
Spermatogenic Failure 19 |
|
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella |
OMIM:617592 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 18 |
|
Cataract |
OMIM:610019 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
Fanconi Renotubular Syndrome 5 |
|
Glycosuria, Proteinuria, Hypophosphatemic rickets, Tubulointerstitial fibrosis, Aminoaciduria, St... |
OMIM:618913 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic aciduria, Tubulointerstitial nephritis, Methylmalonic acidemia, Failure to thrive, ... |
OMIM:251000 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Chorioretinal coloboma, Cataract |
OMIM:274205 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Parathormone-independent increased renal tubular calcium reabsorption, Nephrolithiasis, Hypercalc... |
OMIM:145981 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Elevated circulating creatinine concentration, Acute kidney injury, Proteinur... |
ORPHA:567544 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Xanthinuria, Increased urinary sulfite, Increased urinary thiosulfate, Decreased urinary urate, D... |
OMIM:252150 |
Dent Disease |
|
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hematuria, Hyperuricosuria, Hypercalciuria, Protei... |
ORPHA:1652 |
Nephronophthisis 2 |
|
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Elevated circulating creatinine con... |
OMIM:602088 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephrotic syndrome, Elevated circulating creatinine concentration, Decreased circulating apolipop... |
ORPHA:85450 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Failure to thrive, Stage 5 chronic kidney disease, Hyperalaninemia |
OMIM:618250 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Decreased glomerular filtration rate, Hyperuricemia, Renal tubular atrophy, Nephritis, Nephropath... |
OMIM:162000 |
Congenital Megacalycosis |
|
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... |
ORPHA:93109 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Reduced renal corticomedullary differentiation, Hyponatremia, Hypochloremia, Decreas... |
OMIM:602522 |
Lipoprotein Glomerulopathy |
|
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria |
OMIM:611771 |
Branchiootorenal Syndrome 2 |
|
Renal dysplasia, Renal insufficiency |
OMIM:610896 |
Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria, Infantile hypercalcemia, Failure to ... |
OMIM:143880 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Hypervitaminosis A, Susceptibility To |
|
Hypercalcemia, Renal insufficiency |
OMIM:240150 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Primary Fanconi Renotubular Syndrome |
|
Glycosuria, Generalized aminoaciduria, Hypokalemia, Weight loss, Hyperuricosuria, Hypercalciuria,... |
ORPHA:3337 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Infertility |
OMIM:614822 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Tubulointerstitial fibrosis, Failure to thrive, Cyanosis |
OMIM:263000 |
Bardet-Biedl Syndrome 10 |
|
Obesity, Renal cyst, Abnormality of the kidney, Renal insufficiency |
OMIM:615987 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Severe short stature, Decreased glomerular filtration rate, Elevated circulating creatinine conce... |
OMIM:242530 |
Nephronophthisis 1 |
|
Nephronophthisis, Hyposthenuria, Polyuria, Growth delay, Tubulointerstitial fibrosis, Tubular bas... |
OMIM:256100 |
Senior-Loken Syndrome 9 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Obesity, Tubulointerstitial nephritis |
OMIM:616629 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... |
OMIM:308990 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Cystic renal dysplasia, Hyperlipidemia, Decreased plasma total carnitine, Elevated circulating ac... |
ORPHA:157 |
Preeclampsia |
|
Elevated circulating creatinine concentration, Polycystic ovaries, Acute kidney injury, Proteinur... |
ORPHA:275555 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Spermatogenic Failure 6 |
|
Decreased acrosin in sperm head, Male infertility, Globozoospermia |
OMIM:102530 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Nephrolithiasis, Hypocalcemia, Short stature, Hyperparathyroidism, Hypophosphatemia |
ORPHA:93160 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Elevated circulating creatinine concentration, Di... |
OMIM:179800 |
Leigh Syndrome With Nephrotic Syndrome |
|
Renal tubular acidosis, Renal cyst, Nephrotic syndrome, Intrauterine growth retardation, Tubuloin... |
ORPHA:255249 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Parathormone-independent increased renal tubular calcium reabsorption, Multiple small medullary r... |
OMIM:600740 |
Primary Membranoproliferative Glomerulonephritis |
|
Nephrotic syndrome, Acute kidney injury, Proteinuria, Chronic kidney disease, Glomerular subendot... |
ORPHA:54370 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Nephronophthisis-Like Nephropathy 2 |
|
Periglomerular fibrosis, Elevated circulating creatinine concentration, Polyuria, Renal insuffici... |
OMIM:619468 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Xanthinuria, Growth delay, Increased urinary taurine, Hypouricemia, Increased urinary hypoxanthin... |
OMIM:252160 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Cystic renal dysplasia, Hyperlipidemia, Decreased plasma total carnitine, Elevated circulating ac... |
ORPHA:228308 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Nephropathy, Renal insufficiency |
OMIM:614227 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Intrauterine growth retardation, Elevated circulating creatinine concentration, Small for gestati... |
OMIM:616733 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Hypocystinemia, Increased urinary taurine, Hypouricemia, Neonatal death, Hypertaurinemia |
OMIM:615501 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Hypercalcemia, Proteinuria, Increased blood urea nitrogen, Obesity, Macroscopic ... |
ORPHA:251004 |
Helix Syndrome |
|
Hypokalemia, Hypohidrosis, Nephrolithiasis, Hyperparathyroidism, Polyuria, Renal insufficiency, H... |
OMIM:617671 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Elevated circulating creatinine concentration, Acute kidney injury, Dysuria, Macroscopic hematuri... |
ORPHA:79233 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricosuria, Acute kidney injury, Stage 4 chronic kidney disease, Hyperuricemia, Crystalluria... |
ORPHA:411536 |
Retinitis Pigmentosa 59 |
|
Micropenis, Failure to thrive, Intrauterine growth retardation, Renal insufficiency |
OMIM:613861 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemic seizures, Hypercalciuria, Parathyroid agenesis, Hypocalcemia, Hyperphosphatemia, Hyp... |
ORPHA:2239 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Male infertility, Testicular atrophy |
OMIM:309120 |
Pseudohypoparathyroidism, Type Ib |
|
Pseudohypoparathyroidism, Hypocalcemia, Obesity, Hyperphosphatemia, Elevated circulating parathyr... |
OMIM:603233 |
Lesch-Nyhan Syndrome |
|
Hyperuricemia, Hematuria, Renal insufficiency |
ORPHA:510 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Increased circulating renin level, Hypercalciuria... |
OMIM:601198 |
Small Cell Carcinoma Of The Bladder |
|
Dysuria, Hypercalcemia, Recurrent urinary tract infections, Hematuria |
ORPHA:284400 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Nephrotic syndrome, Proteinuria, Glomerulopathy, Microscopic hematuria, Nephropathy, Renal insuff... |
OMIM:137950 |
Bartter Syndrome, Type 1, Antenatal |
|
Hypokalemia, Polyuria, Hyperactive renin-angiotensin system, Hyperaldosteronism, Hypomagnesemia, ... |
OMIM:601678 |
Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Renal cyst, Recurrent otitis media, Abnormality of the kidney, Obesity, Renal dys... |
OMIM:615993 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Glucose-Galactose Malabsorption |
|
Nephrolithiasis, Hypercalcemia, Hematuria, Failure to thrive, Renal insufficiency, Hypernatremia,... |
ORPHA:35710 |
2P21 Microdeletion Syndrome |
|
Cystinuria, Nephrolithiasis, Hypocalcemia, Growth delay, Failure to thrive, Hypogonadism |
ORPHA:163693 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Chronic kidney disease, Abnormal tubulointerstitial morphology, Nephropathy |
OMIM:602114 |
Alport Syndrome |
|
Nephrotic syndrome, IgA deposition in the glomerulus, Hematuria, Proteinuria, Mesangial hypercell... |
ORPHA:63 |
Birk-Landau-Perez Syndrome |
|
Hyperkalemia, Tubulointerstitial nephritis, Hyperechogenic kidneys, Renal insufficiency |
OMIM:617595 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract |
OMIM:121900 |
Focal Segmental Glomerulosclerosis 6 |
|
Nephrotic syndrome, Hematuria, Proteinuria, Chronic kidney disease, Renal tubular atrophy, Hypoal... |
OMIM:614131 |
Pauci-Immune Glomerulonephritis |
|
Glomerular sclerosis, Elevated circulating creatinine concentration, Acute kidney injury, Protein... |
ORPHA:93126 |
Familial Isolated Hypoparathyroidism |
|
Abnormal calcium-phosphate regulating hormone level, Hypocalcemia, Short stature, Hypoparathyroid... |
ORPHA:2238 |
Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
Spermatogenic Failure 22 |
|
Azoospermia, Infertility |
OMIM:617706 |
Hyperparathyroidism, Neonatal Severe |
|
Hypercalcemia, Hypercalciuria, Polyuria, Primary hyperparathyroidism, Hyperphosphaturia, Aminoaci... |
OMIM:239200 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Chorioretinal coloboma, Microcornea, Remnants of the hyaloid vascular system, Posterior lenticonu... |
ORPHA:231736 |
Alstrom Syndrome |
|
Recurrent pneumonia, Tubulointerstitial nephritis, Hyperuricemia, Truncal obesity, Short stature,... |
OMIM:203800 |
Calciphylaxis |
|
Stage 5 chronic kidney disease, Hyperphosphatemia, Secondary hyperparathyroidism |
ORPHA:280062 |
Nephronophthisis 4 |
|
Stage 5 chronic kidney disease, Polyuria, Growth delay, Tubulointerstitial fibrosis, Renal tubula... |
OMIM:606966 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Diffuse Neonatal Hemangiomatosis |
|
Renal hypoplasia/aplasia, Hypercalcemia, Renal insufficiency |
ORPHA:2123 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Neuroendocrine neoplasm... |
ORPHA:276152 |
Optic Atrophy 3, Autosomal Dominant |
|
Cataract, Optic disc pallor, Optic atrophy |
OMIM:165300 |
Retinitis Pigmentosa 84 |
|
Cataract, Macular coloboma, Macular atrophy |
OMIM:618220 |
Parathyroid Carcinoma |
|
Renal cyst, Nephrocalcinosis, Renal hamartoma, Nephrolithiasis, Hypercalcemia, Parathyroid carcin... |
ORPHA:143 |
Nephrotic Syndrome, Type 2 |
|
Nephrotic syndrome, Hyperlipidemia, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease,... |
OMIM:600995 |
C3 Glomerulopathy |
|
Glomerular extracapillary hypercellularity, Nephrotic syndrome, Elevated circulating creatinine c... |
ORPHA:329918 |
Adenine Phosphoribosyltransferase Deficiency |
|
Oliguria, Elevated circulating creatinine concentration, Nephrolithiasis, Hematuria, Renal insuff... |
OMIM:614723 |
Igg4-Related Kidney Disease |
|
Elevated circulating creatinine concentration, Proteinuria, Hydronephrosis, Prostatitis, Arteriti... |
ORPHA:449395 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Rhabdoid Tumor |
|
Hypercalcemia, Renal neoplasm, Weight loss, Hematuria |
ORPHA:69077 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Nephrotic syndrome, Glomerular deposits, Renal insufficiency |
ORPHA:69063 |
Hypocalcemia, Autosomal Dominant 2 |
|
Postnatal growth retardation, Hypocalcemia |
OMIM:615361 |
Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma |
ORPHA:1377 |
Multiple Endocrine Neoplasia, Type Iv |
|
Renal angiomyolipoma, Hypothyroidism, Hashimoto thyroiditis, Parathyroid adenoma, Elevated circul... |
OMIM:610755 |
Senior-Loken Syndrome 6 |
|
Stage 5 chronic kidney disease |
OMIM:610189 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Proteinuria, Polyuria, Chronic kidney disease, Renal salt wasting, Hyperuricemia, F... |
OMIM:613845 |
Nail-Patella-Like Renal Disease |
|
Proteinuria, Short stature, Glomerulopathy, Microscopic hematuria, Renal insufficiency |
ORPHA:2613 |
Focal Segmental Glomerulosclerosis 10 |
|
Proteinuria, Renal insufficiency, Stage 5 chronic kidney disease, Minimal change glomerulonephrit... |
OMIM:256020 |
Spermatogenic Failure 38 |
|
Absent sperm flagella, Tapered sperm head, Oligospermia, Abnormal sperm head morphology, Male inf... |
OMIM:618433 |
Bardet-Biedl Syndrome 18 |
|
Obesity, Renal insufficiency |
OMIM:615995 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Lysinuric Protein Intolerance |
|
Oroticaciduria, Proteinuria, Renal amyloidosis, Membranous nephropathy, Pancreatitis, Hyperammone... |
ORPHA:470 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Failure to thrive, Tubulointerstitial nephritis, Hyperalaninemia |
OMIM:614582 |
Hyperuricemia, Hprt-Related |
|
Hyperuricemia, Renal insufficiency, Nephrolithiasis, Hyperuricosuria |
OMIM:300323 |
Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Obesity, Hyperuri... |
ORPHA:261222 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Cyanosis, Nephrotic syndrome, Failure to thrive in infancy, Proteinuria, Decreased glomerular fil... |
ORPHA:488627 |
Isochromosomy Yp |
|
Azoospermia, Male infertility |
ORPHA:98797 |
Uremic Pruritus |
|
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Chronic kidney disease, Stage 5 ch... |
ORPHA:94059 |
Camos Syndrome |
|
Nephrotic syndrome, Renal insufficiency |
ORPHA:83472 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Renal dysplasia, Hyperechogenic kidneys, Renal insufficiency, Vesicourete... |
OMIM:601331 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal cyst, Nephrocalcinosis, Renal hamartoma, Nephrolithiasis, Hypercalcemia, Hypercalciuria, Te... |
ORPHA:99880 |
Nephronophthisis 3 |
|
Enuresis, Polyuria, Tubulointerstitial fibrosis, Renal tubular atrophy, Renal corticomedullary cy... |
OMIM:604387 |
Non-Functioning Paraganglioma |
|
Paraganglioma, Hypercalcemia, Elevated urinary dopamine, Hematuria, Paraganglioma of head and nec... |
ORPHA:94080 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute kidney injury, An... |
OMIM:612926 |
Megalocornea |
|
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... |
OMIM:309300 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased urinary urate, Hypouricemia |
ORPHA:760 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricosuria, Acute kidney injury, Hyperuricemia, Crystalluria, Renal insufficiency, Gout, Uri... |
ORPHA:411543 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypothyroidism, Hypohidrosis, Hypocalcemia, Short stature, Hypoparathyroidism, Nephropathy, Renal... |
ORPHA:1563 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Hypoproteinemia, Glomerular sclerosis, Hyperlipidemia, Small for ges... |
OMIM:256300 |
Pendred Syndrome |
|
Hypothyroidism, Nephropathy, Goiter, Thyroid carcinoma, Hyperparathyroidism |
ORPHA:705 |
Dent Disease 2 |
|
Nephrocalcinosis, Proximal tubulopathy, Hypercalciuria, Chronic kidney disease, Low-molecular-wei... |
OMIM:300555 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Myositis, Hematuria, Proteinuria, Arthritis, Increased inflammatory response, Endocard... |
ORPHA:183 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Severe short stature, Hyperphosphaturia, Hypopar... |
OMIM:156400 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Hypoparathyroidism, Hyperphosphatemia, Decreased circulating parathyroid hormone level |
OMIM:146200 |
Purine Nucleoside Phosphorylase Deficiency |
|
Increased circulating inosine concentration, Hypouricemia, Failure to thrive, Recurrent urinary t... |
OMIM:613179 |
Oculocerebrodental Syndrome |
|
Short stature, Hypocalcemia, Nephrocalcinosis, Hypercalcemia |
ORPHA:557003 |
Zollinger-Ellison Syndrome |
|
Pituitary corticotropic cell adenoma, Hyperparathyroidism, Hypercalcemia, Adrenocortical carcinom... |
ORPHA:913 |
Hypomagnesemia 3, Renal |
|
Renal tubular acidosis, Nephrocalcinosis, Hypermagnesiuria, Renal calcium wasting, Hematuria, Nep... |
OMIM:248250 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Enlarged kidney, Renal cyst, Polycystic kidney dysplasia, Tubulointerstitial fibrosis, Absence of... |
OMIM:263200 |
Nephropathy, Deafness, And Hyperparathyroidism |
|
Hyperparathyroidism, Parathyroid hyperplasia, Nephropathy, Renal insufficiency |
OMIM:256120 |
Glycogen Storage Disease Iv |
|
Tubulointerstitial fibrosis, Failure to thrive, Arthrogryposis multiplex congenita |
OMIM:232500 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Hyperlipidemia, Nephrolithiasis, Macronodular adrenal hyperplasia, Abnormal response to corticotr... |
ORPHA:189427 |
Cystinuria |
|
Hyperuricemia, Nephrolithiasis, Hematuria, Renal insufficiency |
ORPHA:214 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Hypercalcemia, Acute kidney injury, Elevated creatine kinase after exercise, Chronic kidney disea... |
ORPHA:284426 |
Nephrotic Syndrome, Type 17 |
|
Proteinuria, Short stature, Steroid-resistant nephrotic syndrome, Microscopic hematuria, Stage 5 ... |
OMIM:618176 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Generalized aminoaciduria, Hypocalcemic seizures, Growth delay, Secondary hyperparathyroidism, Fa... |
OMIM:264700 |
Nephrotic Syndrome, Type 7 |
|
Nephrotic syndrome, Hemolytic-uremic syndrome, Acute kidney injury, Proteinuria, Glomerulonephrit... |
OMIM:615008 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Generalized aminoaciduria, Hypocalcemic seizures, Hypocalcemia, Secondary hyperparathyroidism, Sh... |
ORPHA:289157 |
Focal Segmental Glomerulosclerosis 2 |
|
Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal se... |
OMIM:603965 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Elevated urine pyrophosphate, Nephrocalcinosis, Hypercalcemia, Hyp... |
OMIM:241500 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Proteinuria, Pancreatitis, Ulcerative colitis, Stage 5 chronic kidney disease, Nephrocalcinosis, ... |
ORPHA:79259 |
Cystinuria |
|
Cystinuria, Nephrolithiasis, Hyperlysinuria, Recurrent urinary tract infections, Renal insufficie... |
OMIM:220100 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Nephrotic syndrome, Infectious encephalitis, Interstitial pneumonitis, Tubulointerstitial nephrit... |
ORPHA:139402 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease, Focal segmental glo... |
OMIM:603278 |
Ectopia Lentis Et Pupillae |
|
Cataract, Retinal detachment, Ectopia lentis, Persistent pupillary membrane |
OMIM:225200 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricemia, Renal insufficiency |
ORPHA:3222 |
Oculoskeletodental Syndrome |
|
Renal agenesis, Hypothyroidism, Hypercalcemia, Small for gestational age, Hypercalciuria, Cryptor... |
OMIM:618440 |
Nephrotic Syndrome, Type 19 |
|
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... |
OMIM:618178 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Acute kidney injury, Proteinuria, Hypercholesterolemia, Abnormal cir... |
ORPHA:567548 |
Nephrotic Syndrome, Type 9 |
|
Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease, Focal segmental... |
OMIM:615573 |
Igg4-Related Retroperitoneal Fibrosis |
|
Nephrotic syndrome, Elevated circulating creatinine concentration, Unilateral renal hypoplasia, A... |
ORPHA:49041 |
Nephronophthisis 20 |
|
Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Renal insufficiency |
OMIM:617271 |
Acute Adrenal Insufficiency |
|
Primary adrenal insufficiency, Hyponatremia, Decreased urinary potassium, Hypercalcemia, Increase... |
ORPHA:95409 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Renal insufficiency |
OMIM:613779 |
Addison Disease |
|
Primary adrenal insufficiency, Hashimoto thyroiditis, Thymoma, Premature ovarian insufficiency, A... |
ORPHA:85138 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Focal segmental glomerulosclerosis, Hematuria, Proteinuria |
OMIM:607832 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Failure to thrive in infancy, Membranous nephropathy, Hepatitis, Inflammatory abnormality of the ... |
ORPHA:37042 |
Hanac Syndrome |
|
Multiple renal cysts, Hematuria, Renal insufficiency |
ORPHA:73229 |
Urofacial Syndrome 2 |
|
Hydronephrosis, Enuresis, Urinary urgency, Recurrent urinary tract infections, Renal insufficienc... |
OMIM:615112 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma, Glomerular sclerosis, Elevated urinary dopamine, Hematuria, Proteinuria, Hypercalc... |
ORPHA:276621 |
Nephrotic Syndrome, Type 15 |
|
Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease, Minimal change ... |
OMIM:617609 |
Fibronectin Glomerulopathy |
|
Nephrotic syndrome, Proteinuria, Abnormal glomerular mesangium morphology, Glomerulopathy, Micros... |
ORPHA:84090 |
Drug-Induced Lupus Erythematosus |
|
Hematuria, Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, ... |
ORPHA:231111 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Coloboma, Cataract |
OMIM:607906 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic seizures, Pseudohypoparathyroidism, Hypocalcemia, Hyperphosphatemia, Hypocalcemic te... |
ORPHA:94090 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hyperuricemia, Renal insufficiency, Uric acid nephrolithiasis, Hyperuricosuria |
OMIM:300661 |
Anterior Segment Dysgenesis 8 |
|
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, O... |
OMIM:617319 |
C3 Glomerulopathy 3 |
|
Stage 5 chronic kidney disease, Glomerulonephritis, Hematuria, Renal insufficiency |
OMIM:614809 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Nephrotic syndrome, Generalized distal tubular acidosis, Proteinuria, Glomerulopathy, Microscopic... |
OMIM:601894 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Stage 5 chronic kidney disease, Nephrotic syndrome, Proteinuria |
OMIM:614199 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Enuresis, Tubulointerstitial nephritis, Abnormality of the kidney, Inguinal hernia, Short stature... |
ORPHA:459061 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria |
OMIM:245900 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Peripapillary atrophy, Cataract, Optic disc pallor, Macular degeneration |
OMIM:618195 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Pseudohypoparath... |
OMIM:203330 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Short stature, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Oligomeganephronia |
|
Unilateral renal agenesis, Abnormality of medullary pyramid morphology, Elevated circulating crea... |
ORPHA:2260 |
Multiple Endocrine Neoplasia, Type Iia |
|
Thyroid C cell hyperplasia, Elevated urinary dopamine, Medullary thyroid carcinoma, Parathyroid a... |
OMIM:171400 |
Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Weight loss, Hypercalcemia, Hashimoto thyroiditis, Graves disease, Decreased circul... |
ORPHA:199299 |
Hypophosphatemic Rickets |
|
Nephrocalcinosis, Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Hyperthyroidism, Hyperphosp... |
ORPHA:437 |
Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... |
OMIM:616002 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility |
OMIM:261550 |
Glycogen Storage Disease Ia |
|
Enlarged kidney, Hyperlipidemia, Nephrolithiasis, Proteinuria, Decreased glomerular filtration ra... |
OMIM:232200 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hypernatriuria, Decreased circulating renin level, Decreased serum creatinine, Hyponatremia |
OMIM:300539 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Nephrotic syndrome, Proteinuria, Glomerulopathy, Nephropathy, Renal insufficiency, Focal segmenta... |
OMIM:254900 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
3-Methylglutaric aciduria, Decreased plasma carnitine, Hyperuricemia, Increased level of hippuric... |
OMIM:246450 |
Cataract 9, Multiple Types |
|
Developmental cataract, Microcornea, Cataract, Progressive cataract, Iris coloboma |
OMIM:604219 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Azotemia, Familial |
|
Azotemia |
OMIM:109160 |
Glycogen Storage Disease Vii |
|
Increased total bilirubin, Cholelithiasis, Exercise-induced myoglobinuria, Hyperuricemia |
OMIM:232800 |
Nephrotic Syndrome, Type 18 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:618177 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia, Proteinuria, Pheochromocytoma, Elevated urinary norepinephrine, Hyperhidrosis |
OMIM:171420 |
Complement Factor H Deficiency |
|
Thickened glomerular basement membrane, Chronic kidney disease, Glomerular subendothelial electro... |
OMIM:609814 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Nephrotic Syndrome, Type 20 |
|
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria |
OMIM:301028 |
Focal Segmental Glomerulosclerosis 8 |
|
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria |
OMIM:616032 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic seizures, Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany, Calcium nephrolithia... |
ORPHA:36913 |
Hypophosphatasia |
|
Short stature, Failure to thrive in infancy, Hypercalcemia |
ORPHA:436 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemic seizures, Micropenis, Cryptorchidism, Hypocalcemia, Severe intrauterine growth retar... |
OMIM:241410 |
Glycogen Storage Disease Ib |
|
Enlarged kidney, Hyperlipidemia, Nephrolithiasis, Proteinuria, Decreased glomerular filtration ra... |
OMIM:232220 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating creatinine concentration, Polycystic kidney dysplasia, Recurrent urinary tra... |
OMIM:613095 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic seizures, Intrauterine growth retardation, Hypocalcemia, Growth delay, Hypocalcemic ... |
ORPHA:93324 |
Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Microcornea, Retinal detachment, Cerulean cataract, Iris coloboma |
OMIM:610202 |
Hemorrhagic Fever-Renal Syndrome |
|
Oliguria, Acute tubulointerstitial nephritis, Decreased body weight, Elevated circulating creatin... |
ORPHA:340 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Thin glomer... |
OMIM:615244 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Lessel-Kubisch Syndrome |
|
Renal hypoplasia, Short stature, Renal insufficiency |
OMIM:618681 |
Coats Disease |
|
Cataract, Abnormal anterior chamber morphology, Retinal detachment, Aplasia/Hypoplasia of the iris |
ORPHA:190 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Unilateral renal agenesis, Hypocalcemic seizures, Severe postnatal growth retardation, Hydronephr... |
ORPHA:2237 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Chorioretinal coloboma, Cataract, Retinal detachment, Macular atrophy, Iris coloboma |
OMIM:212550 |
Sanjad-Sakati Syndrome |
|
Cryptorchidism, Hypocalcemia, Hypoplasia of penis, Severe intrauterine growth retardation, Short ... |
ORPHA:2323 |
Renal Hypoplasia |
|
Unilateral renal agenesis, Abnormal renal tubule morphology, Abnormality of the ureter, Decreased... |
ORPHA:93101 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Retinal detachment, Lens subluxation |
OMIM:614292 |
Familial Hypocalciuric Hypercalcemia |
|
Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnesemia, Hypocalce... |
ORPHA:405 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating creatinine concentration, Beta 2-microglobulinuria, Chorioretinal scar, Scle... |
ORPHA:91500 |
Lactic Acidosis, Chronic Adult Form |
|
Hyperuricemia |
OMIM:150170 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma, Glomerular sclerosis, Renal cell carcinoma, Elevated urinary dopamine, Hematuria, ... |
ORPHA:29072 |
Indomethacin Embryofetopathy |
|
Multicystic kidney dysplasia, Abnormal renal tubule morphology, Nephropathy, Renal insufficiency |
ORPHA:1909 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Lacticaciduria, Hyperamylasemia, Pancreatitis, Elevated circulating creatine kinase concentration... |
OMIM:619386 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Hypouricemia |
ORPHA:1187 |
Renal Cysts And Diabetes Syndrome |
|
Unilateral renal agenesis, Glycosuria, Renal cyst, Exocrine pancreatic insufficiency, Nephrolithi... |
OMIM:137920 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
46,Xy Sex Reversal 4 |
|
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hydronephrosis, Ren... |
OMIM:154230 |
Nephronophthisis |
|
Renal insufficiency |
ORPHA:655 |
Hypotonia-Cystinuria Syndrome |
|
Cystinuria, Nephrolithiasis, Hypocalcemia, Decreased response to growth hormone stimulation test,... |
OMIM:606407 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein AI concentration, Proteinuria, Acute kidney injury, Decrease... |
ORPHA:650 |
Coach Syndrome 3 |
|
Renal interstitial inflammation, Stage 5 chronic kidney disease, Renal tubular atrophy, Renal ins... |
OMIM:619113 |
Lymphedema-Distichiasis Syndrome |
|
Recurrent skin infections, Renal duplication, Proteinuria, Tubulointerstitial nephritis, Glomerul... |
ORPHA:33001 |
Nephronophthisis 7 |
|
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:611498 |
Lesch-Nyhan Phenotype With Normal Hgprt |
|
Hyperuricemia |
OMIM:308950 |
Iga Nephropathy, Susceptibility To, 2 |
|
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Stage 5 chronic kidney disease |
OMIM:613944 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Decreased circulating parathyroid hormone... |
OMIM:618883 |
Maternally-Inherited Diabetes And Deafness |
|
Abnormal circulating lipid concentration, Renal insufficiency, Glomerulopathy, Proteinuria |
ORPHA:225 |
Morgagni-Stewart-Morel Syndrome |
|
Hypothyroidism, Hypercholesterolemia, Abnormality of the thyroid gland, Obesity, Hyperuricemia, D... |
ORPHA:77296 |
Nephrotic Syndrome, Type 13 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:616893 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acute k... |
OMIM:235400 |
Insulinoma |
|
Hyperinsulinemia, Pituitary prolactin cell adenoma, Primary hyperparathyroidism, Neoplasm of the ... |
ORPHA:97279 |
Multiple Myeloma |
|
Nephrotic syndrome, Elevated circulating creatinine concentration, Hypercalcemia, Acute kidney in... |
ORPHA:29073 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Failure to thrive, Hyperammonemia, Renal insufficiency |
ORPHA:28 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypocalcemic seizures, Growth delay, Secondary hyperparathyroidism, Failure to thrive, Elevated c... |
OMIM:277440 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Glomerular sclerosis, Elevated circulating creatinine concentration, Increased blood urea nitroge... |
OMIM:223900 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Acute kidney injury, Hematuria, Proteinuria, Renal insufficiency |
ORPHA:54057 |
Hepatic Veno-Occlusive Disease |
|
Increased body weight, Increased total bilirubin, Renal insufficiency |
ORPHA:890 |
Gitelman Syndrome |
|
Renal tubular acidosis, Hypokalemia, Renal Fanconi syndrome, Decreased urinary potassium, Primary... |
ORPHA:358 |
Myopathy, Tubular Aggregate, 2 |
|
Elevated circulating creatine kinase concentration, Hypocalcemia |
OMIM:615883 |
Glycogen Storage Disease Xi |
|
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Myoglobinuria, Rena... |
OMIM:612933 |
Cryoglobulinemia, Familial Mixed |
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Elevated circulating creatinine concentration, Hematuria, Proteinuria, Chronic kidney disease, Ab... |
OMIM:123550 |
Saccharopinuria |
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Hyperlysinemia, Cystinuria, Abnormality of circulating enzyme level, Hyperlysinuria, Elevated pla... |
ORPHA:3124 |
Ppoma |
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Cholelithiasis, Intestinal carcinoid, Hypercalcemia, Abnormality of the thyroid gland, Primary hy... |
ORPHA:97278 |
Isochromosomy Yq |
|
Azoospermia, Male infertility |
ORPHA:98798 |
Nephrotic Syndrome, Type 3 |
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Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Stage 5 chronic ki... |
OMIM:610725 |
Multiple Endocrine Neoplasia Type 2 |
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Elevated urinary catecholamines, Nephrolithiasis, Hypercalcemia, Thyroid C cell hyperplasia, Hype... |
ORPHA:653 |
Nephrotic Syndrome, Type 4 |
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Diffuse mesangial sclerosis, Nephrotic syndrome, Nephroblastoma, Renal insufficiency, Focal segme... |
OMIM:256370 |
Vipoma |
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Hypokalemia, Hypercalcemia, Abnormality of the thyroid gland, Primary hyperparathyroidism, Parath... |
ORPHA:97282 |
Sjogren Syndrome |
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Rheumatoid arthritis, Keratoconjunctivitis sicca, Tubulointerstitial nephritis |
OMIM:270150 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
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Elevated circulating parathyroid hormone level, Parathyroid hyperplasia, Hyperphosphatemia, Hyper... |
OMIM:617994 |
Focal Segmental Glomerulosclerosis 5 |
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Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Microscopic hematuria, Protei... |
OMIM:613237 |
Nephrotic Syndrome, Type 11 |
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Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposition in the glomerulus, Proteinuria, H... |
OMIM:616730 |
Mccune-Albright Syndrome |
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Hyperthyroidism, Elevated circulating growth hormone concentration, Increased circulating prolact... |
OMIM:174800 |
Alport Syndrome 3, Autosomal Dominant |
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Nephrocalcinosis, Nephrotic syndrome, Hematuria, Proteinuria, Glomerulonephritis, Thickened glome... |
OMIM:104200 |
Wagner Vitreoretinopathy |
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Optic atrophy, Cataract, Peripheral tractional retinal detachment, Retinal pigment epithelial atr... |
OMIM:143200 |
Lead Poisoning |
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Renal tubular dysfunction, Small for gestational age, Tubulointerstitial nephritis, Chronic kidne... |
ORPHA:330015 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Proteinuria, Increased ... |
OMIM:274150 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
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Hyperuricemia |
ORPHA:371 |
Nephrosialidosis |
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Nephrotic syndrome, Nephropathy, Renal insufficiency |
OMIM:256150 |
Multiple Endocrine Neoplasia, Type I |
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Hypercalcemia, Adenoma sebaceum, Thyroid adenoma, Pituitary prolactin cell adenoma, Parathyroid a... |
OMIM:131100 |
Medullary Thyroid Carcinoma |
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Elevated calcitonin, Medullary thyroid carcinoma, Primary hyperparathyroidism, Pheochromocytoma, ... |
ORPHA:1332 |
Grfoma |
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Cholelithiasis, Intestinal carcinoid, Palmoplantar hyperhidrosis, Hypercalcemia, Abnormality of t... |
ORPHA:97261 |
Autosomal Dominant Polycystic Kidney Disease |
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Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Hematuria, Elevated circulating cre... |
ORPHA:730 |
Retinitis Pigmentosa 40 |
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Cataract, Bone spicule pigmentation of the retina |
OMIM:613801 |
Lesch-Nyhan Syndrome |
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Nephrolithiasis, Hyperuricosuria, Testicular atrophy, Hyperuricemia, Short stature |
OMIM:300322 |
Fanconi Renotubular Syndrome 2 |
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Generalized aminoaciduria, Glycosuria, Hypercalciuria, Proximal tubulopathy, Short stature, Renal... |
OMIM:613388 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
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Renal agenesis, Abnormality of endocrine pancreas physiology, Hypothyroidism, Horseshoe kidney, R... |
ORPHA:93111 |
Genetic Steroid-Resistant Nephrotic Syndrome |
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Diffuse mesangial sclerosis, Proteinuria, Peritonitis, Chronic kidney disease, Hypoalbuminemia, F... |
ORPHA:656 |
Multiple Endocrine Neoplasia Type 1 |
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Intestinal carcinoid, Pituitary corticotropic cell adenoma, Abnormal circulating aldosterone, Pul... |
ORPHA:652 |
Vitamin D-Dependent Rickets, Type 3 |
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Hypocalcemia, Hypophosphatemia, Growth delay, Elevated circulating parathyroid hormone level |
OMIM:619073 |
Iga Nephropathy, Susceptibility To, 3 |
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IgA deposition in the glomerulus, Hematuria, Mesangial hypercellularity, Proteinuria, Stage 5 chr... |
OMIM:616818 |
Senior-Loken Syndrome 5 |
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Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:609254 |
Apparent Mineralocorticoid Excess |
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Abnormality of circulating cortisol level, Hypokalemia, Nephrocalcinosis, Intrauterine growth ret... |
ORPHA:320 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
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Chorioretinal coloboma, Optic atrophy, Posterior embryotoxon, Cataract, Corneal opacity, Retinal ... |
ORPHA:1473 |
Malaria |
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Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Acute kidney injury |
ORPHA:673 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
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Aminoaciduria, Failure to thrive, Tubulointerstitial nephritis, Cholangitis |
OMIM:124000 |
Bardet-Biedl Syndrome 19 |
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Obesity, Renal insufficiency |
OMIM:615996 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
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Microcornea, Cataract, Aniridia |
OMIM:106230 |
Glycogen Storage Disease Ic |
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Hyperlipidemia, Hematuria, Proteinuria, Decreased glomerular filtration rate, Hyperuricemia, Xant... |
OMIM:232240 |
Glycogen Storage Disease X |
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Elevated circulating creatine kinase concentration, Myoglobinuria, Renal insufficiency |
OMIM:261670 |
Stickler Syndrome Type 2 |
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Cataract, Corneal opacity, Retinal detachment |
ORPHA:90654 |
Hyperparathyroidism, Primary, Caused By Water Clear Cell Hyperplasia |
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Primary hyperparathyroidism |
OMIM:600166 |
Galactosemia Iv |
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Cataract |
OMIM:618881 |
Pseudohypoparathyroidism Type 1B |
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Hypocalcemic seizures, Pseudohypoparathyroidism, Pituitary resistance to thyroid hormone, Hypocal... |
ORPHA:94089 |
Somatostatinoma |
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Hypercalcemia, Medullary thyroid carcinoma, Abnormality of the thyroid gland, Primary hyperparath... |
ORPHA:97283 |
Dent Disease 1 |
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Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Proximal tubulopathy, Chronic kidn... |
OMIM:300009 |
Progressive Familial Intrahepatic Cholestasis |
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Short stature, Failure to thrive, Hypocalcemia |
ORPHA:172 |
Adenine Phosphoribosyltransferase Deficiency |
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Oliguria, Urinary retention, Nephrolithiasis, Acute kidney injury, Proteinuria, Dysuria, Macrosco... |
ORPHA:976 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
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Hypocalcemia |
DECIPHER:16 |
Atypical Hemolytic Uremic Syndrome |
|
Proteinuria, Hematuria, Acute kidney injury |
ORPHA:2134 |
Senior-Loken Syndrome |
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Short stature, Nephronophthisis, Stage 5 chronic kidney disease, Chronic kidney disease |
ORPHA:3156 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency |
OMIM:249660 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
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Elevated circulating creatine kinase concentration, Increased serum pyruvate, Myoglobinuria, Rena... |
ORPHA:2364 |
Exudative Vitreoretinopathy 6 |
|
Cataract, Retinal detachment |
OMIM:616468 |
Nephrotic Syndrome, Type 22 |
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Podocyte foot process effacement, Hypoproteinemia, Glomerular sclerosis, Nephrotic syndrome, Thic... |
OMIM:619155 |
Oculocerebrorenal Syndrome Of Lowe |
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Hypokalemia, Diabetes insipidus, Proteinuria, Cryptorchidism, Hyperaldosteronism, Proximal renal ... |
ORPHA:534 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
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Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... |
OMIM:143400 |
Complement Component C1R/C1S Deficiency |
|
Nephritis, Discoid lupus rash, Arthritis |
OMIM:216950 |
Aapoaiv Amyloidosis |
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Glomerular sclerosis, Elevated circulating creatinine concentration, Hyperlipidemia, Proteinuria,... |
ORPHA:439232 |
Acrorenal Syndrome |
|
Abnormal renal morphology, Renal hypoplasia/aplasia, Renal insufficiency |
ORPHA:971 |
Pheochromocytoma |
|
Hypercalcemia, Proteinuria, Pheochromocytoma, Elevated urinary norepinephrine, Renal artery steno... |
OMIM:171300 |
Vitreoretinal Degeneration, Snowflake Type |
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Snowflake vitreoretinal degeneration, Corneal guttata, Cataract, Retinal detachment |
OMIM:193230 |
Familial Visceral Myopathy |
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Hydroureter, Hyperparathyroidism, Vesicoureteral reflux, Megacystis |
ORPHA:2604 |
Retinitis Pigmentosa 37 |
|
Pigmentary retinopathy, Cataract, Cystoid macular degeneration |
OMIM:611131 |
Burkitt Lymphoma |
|
Abnormality of the ovary, Hyperuricemia |
ORPHA:543 |
Infantile Myofibromatosis |
|
Abnormality of the kidney, Hypercalcemia, Neoplasm of the pancreas |
ORPHA:2591 |
Paget Disease Of Bone 5, Juvenile-Onset |
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Macular scar, Hypercalciuria, Hydroxyprolinuria, Hyperuricemia, Short stature, Failure to thrive,... |
OMIM:239000 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Polycystic ovaries, Hyperuricemia, Insulin-resistant diabetes mellitus, Hypertr... |
OMIM:604367 |
Arima Syndrome |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Tubulointerstitial fibrosis, Renal t... |
OMIM:243910 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hematuria, Hyperuricemia |
ORPHA:35909 |
Cocaine Intoxication |
|
Hematuria, Acute kidney injury, Proteinuria, Colitis, Glomerulonephritis, Tubulointerstitial neph... |
ORPHA:90068 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Male infertility, Testicular atrophy |
ORPHA:276183 |
Wilson Disease |
|
Glycosuria, Renal tubular dysfunction, Nephrolithiasis, Proteinuria, Hypercalciuria, Hyperphospha... |
OMIM:277900 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis |
OMIM:612551 |
Osteopetrosis With Renal Tubular Acidosis |
|
Renal tubular acidosis, Nephrolithiasis, Distal renal tubular acidosis, Hydronephrosis, Hypocalce... |
ORPHA:2785 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microcornea, Cataract, Optic disc pallor, Macular atrophy, Optic atrophy |
OMIM:616171 |
Fanconi Renotubular Syndrome 1 |
|
Glycosuria, Hypokalemia, Lacticaciduria, Renal tubular dysfunction, Proteinuria, Aminoaciduria, S... |
OMIM:134600 |
Immunodeficiency, Common Variable, 6 |
|
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Glomerulonephritis, Macrosc... |
OMIM:613496 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hyperechogenic kidneys, Polycystic kidney dysplasia |
OMIM:617610 |
Iga Nephropathy, Susceptibility To, 1 |
|
IgA deposition in the glomerulus, Hematuria, Proteinuria, Nephritis, Stage 5 chronic kidney disease |
OMIM:161950 |
Juvenile Paget Disease |
|
Short stature, Hyperuricemia |
ORPHA:2801 |
Retinitis Pigmentosa 9 |
|
Cataract, Bone spicule pigmentation of the retina, Macular atrophy |
OMIM:180104 |
Marfanoid Habitus With Microcephaly And Glomerulonephritis |
|
Glomerulonephritis, Renal insufficiency |
OMIM:248760 |
Hereditary Fructose Intolerance |
|
Chronic kidney disease, Growth delay, Hyperuricemia, Episodic hyperhidrosis, Renal insufficiency,... |
ORPHA:469 |
Morm Syndrome |
|
Retinal atrophy, Cataract |
ORPHA:75858 |
Nephronophthisis 12 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:613820 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Renal cyst, Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Obesity, Renal dysplasia, Precocious... |
ORPHA:369837 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hyperparathyroidism |
OMIM:618107 |
Myoglobinuria, Autosomal Dominant |
|
Elevated circulating creatine kinase concentration, Myoglobinuria, Acute kidney injury |
OMIM:160010 |
Coloboma, Ocular, Autosomal Dominant |
|
Chorioretinal coloboma, Corneal opacity, Remnants of the hyaloid vascular system, Peters anomaly,... |
OMIM:120200 |
Muckle-Wells Syndrome |
|
Maculopapular exanthema, Elevated circulating C-reactive protein concentration, Renal amyloidosis... |
OMIM:191900 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposition in the glomerulus, Proteinuria, H... |
OMIM:618348 |
Jeune Syndrome |
|
Short stature, Nephronophthisis, Nephropathy, Renal insufficiency |
ORPHA:474 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypocalcemia, Short stature, Diabetes mellitus, Hypertriglyceridemia |
OMIM:612526 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Proteinuria |
OMIM:614455 |
Gaisböck Syndrome |
|
Nephrocalcinosis, Hypercholesterolemia, Increased circulating renin level, Cholecystitis, Gout, O... |
ORPHA:90041 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Rhizomelia, Renal hypoplasia, Short stature, Chronic kidney disease |
OMIM:617661 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Nephrotic syndrome, Glomerular sclerosis, Intrauterine growth retardation, Proteinuria, Short sta... |
OMIM:301006 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Proximal tubulopathy, Hypophosphatemic rickets... |
OMIM:300554 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal tubular dysfunction, Growth delay, Pancreatitis, Renal insufficiency, Hyperammonemia |
ORPHA:289916 |
Kenny-Caffey Syndrome, Type 1 |
|
Birth length less than 3rd percentile, Intrauterine growth retardation, Hypocalcemia, Proportiona... |
OMIM:244460 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent otitis media, Pneumonia, Tubulointerstitial fibrosis, Rheumatoid arthritis, Short statu... |
OMIM:607944 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Cockayne Syndrome Type 1 |
|
Uveitis, Contractures involving the joints of the feet, Proteinuria, Increased blood urea nitroge... |
ORPHA:90321 |
Glucagonoma |
|
Hypercalcemia, Abnormality of the thyroid gland, Primary hyperparathyroidism, Parathyroid adenoma... |
ORPHA:97280 |
Joubert Syndrome 4 |
|
Nephronophthisis, Abnormal renal medulla morphology, Renal insufficiency |
OMIM:609583 |
Retinitis Pigmentosa 4 |
|
Pigmentary retinopathy, Cataract |
OMIM:613731 |
Persistent Hyperplastic Primary Vitreous |
|
Glial remnants anterior to the optic disc, Shallow anterior chamber, Developmental cataract, Pers... |
ORPHA:91495 |
Immunodeficiency 91 And Hyperinflammation |
|
Recurrent pneumonia, Nephrotic syndrome, Hemolytic-uremic syndrome, Maculopapular exanthema, Elev... |
OMIM:619644 |
Liddle Syndrome |
|
Hypokalemia, Nephropathy, Renal insufficiency |
ORPHA:526 |
X-Linked Immunoneurologic Disorder |
|
Recurrent respiratory infections, Cataract, Abnormal pleura morphology |
ORPHA:2571 |
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase |
|
Hyperuricemia |
OMIM:240000 |
Posterior Urethral Valve |
|
Fetal pyelectasis, Pyelonephritis, Urinary retention, Enuresis nocturna, Dysuria, Hydronephrosis,... |
ORPHA:93110 |
Nephrotic Syndrome, Type 21 |
|
Podocyte foot process effacement, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, St... |
OMIM:618594 |
Morning Glory Disc Anomaly |
|
Optic disc coloboma, Abnormality of retinal pigmentation, Cataract, Retinal detachment |
ORPHA:35737 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Proteinuria, Congenital diaphragmatic hernia, Bilateral renal atrophy, Renal insufficiency, Stage... |
OMIM:166300 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Coloboma, Cataract |
OMIM:120433 |
Thyrocerebrorenal Syndrome |
|
Nephritis, Renal insufficiency |
ORPHA:3327 |
Lethal Infantile Mitochondrial Myopathy |
|
Renal insufficiency |
ORPHA:254857 |
Alpha-Heavy Chain Disease |
|
Premature ovarian insufficiency, Hypocalcemia, Growth delay |
ORPHA:100025 |
Gapo Syndrome |
|
Tubulointerstitial fibrosis, Umbilical hernia, Growth delay |
OMIM:230740 |
Hinman Syndrome |
|
Hydronephrosis, Enuresis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral... |
ORPHA:84085 |
Nephrotic Syndrome, Type 14 |
|
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Micropenis, Hypertriglyceridemia, H... |
OMIM:617575 |
Coach Syndrome 2 |
|
Hyperechogenic kidneys, Elevated circulating creatinine concentration |
OMIM:619111 |
Laurence-Moon Syndrome |
|
Obesity, Hypoplasia of penis, Short stature, Displacement of the urethral meatus, Renal insuffici... |
ORPHA:2377 |
Intermediate Uveitis |
|
Macular scar, Optic neuritis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Anterior uve... |
ORPHA:279914 |
Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Hematuria, Steroid-resistant nephrotic syndrome, Stage 5 chronic kid... |
OMIM:616892 |
Exfoliation Syndrome |
|
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... |
OMIM:177650 |
Cataract 1, Multiple Types |
|
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... |
OMIM:116200 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Elevated urinary dopamine, Hyperinsulinemia, Incre... |
ORPHA:230 |
Pseudohypoparathyroidism, Type Ic |
|
Hypothyroidism, Pseudohypoparathyroidism, Obesity, Short stature, Hyperphosphatemia, Hypocalcemic... |
OMIM:612462 |
Genetic Recurrent Myoglobinuria |
|
Oliguria, Acute kidney injury, Hyperkalemia, Hypocalcemia, Recurrent myoglobinuria, Highly elevat... |
ORPHA:99845 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Short stature, Hypoparathyroidism, Nephropathy, Renal insufficiency |
OMIM:247410 |
Norrie Disease |
|