| Auditory Neuropathy, Autosomal Dominant, 1 |
|
Sensorineural hearing impairment, Absence of acoustic reflex, Abnormal auditory evoked potentials... |
OMIM:609129 |
| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
| Deafness-Oligodontia Syndrome |
|
Sensorineural hearing impairment, Abnormality of the inner ear, Vertigo |
ORPHA:3230 |
| Deafness, Autosomal Dominant 11 |
|
Vestibular dysfunction, Vertigo, Bilateral sensorineural hearing impairment |
OMIM:601317 |
| Deafness, Autosomal Recessive 2 |
|
Sensorineural hearing impairment, Vestibular dysfunction, Vertigo |
OMIM:600060 |
| Nephrotic Syndrome, Type 23 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa... |
OMIM:619201 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... |
OMIM:613092 |
| Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... |
OMIM:619263 |
| Deafness, Autosomal Recessive 48 |
|
Vestibular dysfunction, Profound sensorineural hearing impairment |
OMIM:609439 |
| Deafness, Autosomal Recessive 94 |
|
Vestibular dysfunction, Bilateral sensorineural hearing impairment |
OMIM:618434 |
| Nephrotic Syndrome, Type 18 |
|
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch... |
OMIM:618177 |
| Deafness, Autosomal Recessive 110 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:618094 |
| Deafness, Autosomal Recessive 1A |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:220290 |
| Deafness, Autosomal Dominant 81 |
|
Sensorineural hearing impairment, Vestibular dysfunction |
OMIM:619500 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Hypertension, Abnormal glomerular mesangium morphology, Synovitis, Nephrotic syndrome, Elevated c... |
ORPHA:567544 |
| Nephrotic Syndrome, Type 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Tubulointerstitial fibrosis, Hypoalbumine... |
OMIM:614196 |
| Nephrotic Syndrome, Type 19 |
|
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... |
OMIM:618178 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... |
OMIM:310468 |
| Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:301028 |
| Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:616032 |
| Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:256020 |
| Focal Segmental Glomerulosclerosis 2 |
|
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney dise... |
OMIM:603965 |
| Focal Segmental Glomerulosclerosis 6 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb... |
OMIM:614131 |
| Deafness, Autosomal Recessive 30 |
|
Progressive hearing impairment, Progressive sensorineural hearing impairment |
OMIM:607101 |
| Deafness, Autosomal Recessive 25 |
|
Progressive sensorineural hearing impairment, Hearing impairment |
OMIM:613285 |
| Focal Segmental Glomerulosclerosis 7 |
|
Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616002 |
| Deafness, Autosomal Dominant 49 |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:608372 |
| Deafness, Mid-Tone Neural |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:124700 |
| Deafness, X-Linked 4 |
|
Sensorineural hearing impairment, High-frequency hearing impairment |
OMIM:300066 |
| Nephrotic Syndrome, Type 17 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... |
OMIM:618176 |
| Deafness, Autosomal Recessive 13 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:603098 |
| Deafness, Autosomal Recessive 29 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:614035 |
| Deafness, Autosomal Recessive 57 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:618003 |
| Deafness, Autosomal Recessive 20 |
|
Sensorineural hearing impairment, Hearing impairment |
OMIM:604060 |
| Nephrotic Syndrome, Type 9 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... |
OMIM:615573 |
| Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Renal insufficiency, Nephrotic syndrome, Glomerular deposits |
ORPHA:69063 |
| Nephrotic Syndrome, Type 15 |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbumi... |
OMIM:617609 |
| Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Hyperlipidemia, Nephrotic syndrome, Stage 5 chronic kidney di... |
OMIM:600995 |
| Nephrotic Syndrome, Type 8 |
|
Nephrotic syndrome, Thin glomerular basement membrane, Sensorineural hearing impairment, Hypoalbu... |
OMIM:615244 |
| Deafness, Autosomal Dominant 20 |
|
Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:604717 |
| Deafness, Autosomal Dominant 6 |
|
Low-frequency sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:600965 |
| Nephrotic Syndrome, Type 7 |
|
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... |
OMIM:615008 |
| Deafness, Autosomal Dominant 22 |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:606346 |
| Deafness, Sensorineural, Autosomal-Mitochondrial Type |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:221745 |
| Deafness, Autosomal Recessive 15 |
|
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment |
OMIM:601869 |
| Deafness, Autosomal Recessive 79 |
|
Sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:613307 |
| Deafness, Autosomal Recessive 67 |
|
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:610265 |
| Nephrotic Syndrome, Type 3 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum... |
OMIM:610725 |
| Nephrotic Syndrome, Type 10 |
|
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon... |
OMIM:615861 |
| Usher Syndrome, Type Ic |
|
Congenital sensorineural hearing impairment, Vestibular hypofunction |
OMIM:276904 |
| Focal Segmental Glomerulosclerosis 5 |
|
Hypertension, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Microscopic hem... |
OMIM:613237 |
| Nephrotic Syndrome, Type 13 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:616893 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hypertension, Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency |
OMIM:607832 |
| Coenzyme Q10 Deficiency, Primary, 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Sensorineural hearing impairment, Diffuse... |
OMIM:614650 |
| Renal Failure, Progressive, With Hypertension |
|
Hypertension, Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney di... |
OMIM:161900 |
| Lipoprotein Glomerulopathy |
|
Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity |
OMIM:611771 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy... |
OMIM:308990 |
| Deafness, Autosomal Recessive 111 |
|
Progressive sensorineural hearing impairment |
OMIM:618145 |
| Deafness, Autosomal Recessive 3 |
|
Profound sensorineural hearing impairment |
OMIM:600316 |
| Deafness, Autosomal Dominant 4A |
|
Progressive sensorineural hearing impairment |
OMIM:600652 |
| Deafness, Autosomal Recessive 71 |
|
Prelingual sensorineural hearing impairment |
OMIM:612789 |
| Deafness, Autosomal Recessive 62 |
|
Prelingual sensorineural hearing impairment |
OMIM:610143 |
| Deafness, Autosomal Recessive 49 |
|
Prelingual sensorineural hearing impairment |
OMIM:610153 |
| Deafness, Autosomal Recessive 44 |
|
Prelingual sensorineural hearing impairment |
OMIM:610154 |
| Deafness, Autosomal Recessive 24 |
|
Profound sensorineural hearing impairment |
OMIM:611022 |
| Deafness, Autosomal Recessive 83 |
|
Prelingual sensorineural hearing impairment |
OMIM:613685 |
| Deafness, Autosomal Recessive 46 |
|
Profound sensorineural hearing impairment |
OMIM:609647 |
| Deafness, Autosomal Dominant 70 |
|
Progressive sensorineural hearing impairment |
OMIM:616968 |
| Deafness, Autosomal Recessive 104 |
|
Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Deafness, Autosomal Recessive 28 |
|
Severe sensorineural hearing impairment |
OMIM:609823 |
| Deafness, Autosomal Recessive 12 |
|
Prelingual sensorineural hearing impairment |
OMIM:601386 |
| Deafness, Autosomal Recessive 40 |
|
Prelingual sensorineural hearing impairment |
OMIM:608264 |
| Deafness, Autosomal Recessive 39 |
|
Prelingual sensorineural hearing impairment |
OMIM:608265 |
| Deafness, Autosomal Recessive 45 |
|
Prelingual sensorineural hearing impairment |
OMIM:612433 |
| Deafness, Autosomal Dominant 5 |
|
Progressive sensorineural hearing impairment |
OMIM:600994 |
| Deafness, Autosomal Dominant 78 |
|
Profound sensorineural hearing impairment |
OMIM:619081 |
| Deafness, Autosomal Dominant 79 |
|
Progressive sensorineural hearing impairment |
OMIM:619086 |
| Deafness, Autosomal Recessive 38 |
|
Prelingual sensorineural hearing impairment |
OMIM:608219 |
| Deafness, Autosomal Recessive 76 |
|
Progressive sensorineural hearing impairment |
OMIM:615540 |
| Deafness, Autosomal Recessive 85 |
|
Prelingual sensorineural hearing impairment |
OMIM:613392 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hypertension, Focal segmental glomerulosclerosis, Hyperlipidemia, Stage 5 chronic kidney disease,... |
OMIM:603278 |
| Deafness, Autosomal Recessive 77 |
|
Bilateral sensorineural hearing impairment |
OMIM:613079 |
| Deafness, Autosomal Recessive 63 |
|
Congenital sensorineural hearing impairment |
OMIM:611451 |
| Deafness, Autosomal Dominant 31 |
|
Old-aged sensorineural hearing impairment |
OMIM:608645 |
| Deafness, Autosomal Dominant 3B |
|
Adult onset sensorineural hearing impairment |
OMIM:612643 |
| Deafness, X-Linked 3 |
|
Congenital sensorineural hearing impairment |
OMIM:300030 |
| Deafness, Autosomal Recessive 101 |
|
Bilateral sensorineural hearing impairment |
OMIM:615837 |
| Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Nephropathy |
OMIM:182690 |
| Deafness, Autosomal Recessive 17 |
|
Sensorineural hearing impairment |
OMIM:603010 |
| Deafness, Autosomal Recessive 8 |
|
Sensorineural hearing impairment |
OMIM:601072 |
| Deafness, Autosomal Recessive 26 |
|
Sensorineural hearing impairment |
OMIM:605428 |
| Deafness, Autosomal Dominant 48 |
|
Sensorineural hearing impairment |
OMIM:607841 |
| Deafness, Autosomal Dominant 40 |
|
Sensorineural hearing impairment |
OMIM:616357 |
| Deafness, Autosomal Dominant 37 |
|
Sensorineural hearing impairment |
OMIM:618533 |
| Deafness, Autosomal Dominant 75 |
|
Sensorineural hearing impairment |
OMIM:618778 |
| Deafness, Autosomal Dominant 76 |
|
Sensorineural hearing impairment |
OMIM:618787 |
| Deafness, Autosomal Recessive 14 |
|
Sensorineural hearing impairment |
OMIM:603678 |
| Deafness, Autosomal Recessive 27 |
|
Sensorineural hearing impairment |
OMIM:605818 |
| Deafness, Autosomal Recessive 68 |
|
Sensorineural hearing impairment |
OMIM:610419 |
| Deafness, Autosomal Recessive 21 |
|
Sensorineural hearing impairment |
OMIM:603629 |
| Deafness, Autosomal Recessive 66 |
|
Sensorineural hearing impairment |
OMIM:610212 |
| Deafness, Autosomal Recessive 5 |
|
Sensorineural hearing impairment |
OMIM:600792 |
| Deafness, Autosomal Recessive 59 |
|
Sensorineural hearing impairment |
OMIM:610220 |
| Deafness, Autosomal Recessive 61 |
|
Sensorineural hearing impairment |
OMIM:613865 |
| Deafness, Autosomal Recessive 117 |
|
Sensorineural hearing impairment |
OMIM:619174 |
| Deafness, Autosomal Recessive 22 |
|
Sensorineural hearing impairment |
OMIM:607039 |
| Deafness, Autosomal Dominant 59 |
|
Sensorineural hearing impairment |
OMIM:612642 |
| Deafness, Autosomal Dominant 21 |
|
Sensorineural hearing impairment |
OMIM:607017 |
| Deafness, Autosomal Dominant 68 |
|
Sensorineural hearing impairment |
OMIM:616707 |
| Deafness, Autosomal Recessive 97 |
|
Sensorineural hearing impairment |
OMIM:616705 |
| Deafness, Autosomal Recessive 35 |
|
Sensorineural hearing impairment |
OMIM:608565 |
| Deafness, Autosomal Recessive 42 |
|
Sensorineural hearing impairment |
OMIM:609646 |
| Deafness, Autosomal Dominant 66 |
|
Sensorineural hearing impairment |
OMIM:616969 |
| Deafness, Autosomal Dominant 44 |
|
Sensorineural hearing impairment |
OMIM:607453 |
| Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment |
OMIM:618915 |
| Deafness, Autosomal Dominant 71 |
|
Sensorineural hearing impairment |
OMIM:617605 |
| Deafness, Neural, Congenital Moderate |
|
Sensorineural hearing impairment |
OMIM:221500 |
| Deafness, X-Linked 1 |
|
Sensorineural hearing impairment |
OMIM:304500 |
| Deafness, Autosomal Recessive 113 |
|
Sensorineural hearing impairment |
OMIM:618410 |
| Neuropathy, Hereditary Motor And Sensory, With Deafness, Mental Retardation, And Absent Sensory Large Myelinated Fibers |
|
Sensorineural hearing impairment |
OMIM:214370 |
| Deafness, Autosomal Recessive 100 |
|
Sensorineural hearing impairment |
OMIM:618422 |
| Deafness, Autosomal Recessive 114 |
|
Sensorineural hearing impairment |
OMIM:618456 |
| Deafness, Autosomal Recessive 115 |
|
Sensorineural hearing impairment |
OMIM:618457 |
| Deafness, Autosomal Recessive 99 |
|
Sensorineural hearing impairment |
OMIM:618481 |
| Deafness, Y-Linked 2 |
|
Sensorineural hearing impairment |
OMIM:400047 |
| Deafness, Autosomal Dominant 10 |
|
Sensorineural hearing impairment |
OMIM:601316 |
| Deafness, Autosomal Dominant 3A |
|
Sensorineural hearing impairment |
OMIM:601544 |
| Deafness, Autosomal Dominant 12 |
|
Sensorineural hearing impairment |
OMIM:601543 |
| Deafness, Autosomal Recessive 16 |
|
Sensorineural hearing impairment |
OMIM:603720 |
| Deafness, Autosomal Dominant 13 |
|
Sensorineural hearing impairment |
OMIM:601868 |
| Deafness, Autosomal Recessive 31 |
|
Sensorineural hearing impairment |
OMIM:607084 |
| Deafness, Autosomal Dominant 27 |
|
Sensorineural hearing impairment |
OMIM:612431 |
| Deafness, Autosomal Dominant 69 |
|
Sensorineural hearing impairment |
OMIM:616697 |
| Deafness, Autosomal Recessive 98 |
|
Sensorineural hearing impairment |
OMIM:614861 |
| Deafness, Autosomal Recessive 116 |
|
Sensorineural hearing impairment |
OMIM:619093 |
| Deafness, Autosomal Recessive 7 |
|
Sensorineural hearing impairment |
OMIM:600974 |
| Deafness, Autosomal Recessive 23 |
|
Sensorineural hearing impairment |
OMIM:609533 |
| Mental Retardation, X-Linked 46 |
|
Sensorineural hearing impairment |
OMIM:300436 |
| Deafness, Autosomal Dominant 47 |
|
Sensorineural hearing impairment |
OMIM:608652 |
| Deafness, Autosomal Dominant 28 |
|
Sensorineural hearing impairment |
OMIM:608641 |
| Deafness, Autosomal Dominant 53 |
|
Sensorineural hearing impairment |
OMIM:609965 |
| Deafness, Autosomal Dominant 30 |
|
Sensorineural hearing impairment |
OMIM:606451 |
| Deafness, Autosomal Recessive 18A |
|
Sensorineural hearing impairment |
OMIM:602092 |
| Deafness, Autosomal Recessive 53 |
|
Sensorineural hearing impairment |
OMIM:609706 |
| Deafness, Autosomal Dominant 25 |
|
Sensorineural hearing impairment |
OMIM:605583 |
| Deafness, Autosomal Recessive 51 |
|
Sensorineural hearing impairment |
OMIM:609941 |
| Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome |
OMIM:616220 |
| Nephrotic Syndrome, Type 4 |
|
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Diffuse mesangial scleros... |
OMIM:256370 |
| Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen... |
OMIM:614817 |
| Nephrotic Syndrome, Type 21 |
|
Podocyte foot process effacement, Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndro... |
OMIM:618594 |
| Usher Syndrome, Type Iia |
|
Congenital sensorineural hearing impairment |
OMIM:276901 |
| Usher Syndrome, Type Iic |
|
Congenital sensorineural hearing impairment |
OMIM:605472 |
| Usher Syndrome, Type If |
|
Congenital sensorineural hearing impairment |
OMIM:602083 |
| C3 Glomerulopathy 3 |
|
Hematuria, Renal insufficiency, Stage 5 chronic kidney disease, Glomerulonephritis |
OMIM:614809 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... |
ORPHA:567548 |
| Deafness, Autosomal Recessive 37 |
|
Sensorineural hearing impairment, Vestibular dysfunction, Bilateral sensorineural hearing impairment |
OMIM:607821 |
| Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
| Nephrotic Syndrome, Type 1 |
|
Renal tubular atrophy, Hypoproteinemia, Hyperlipidemia, Small for gestational age, Congenital nep... |
OMIM:256300 |
| Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Renal insufficiency, Optic atrophy, Nephrotic syndrome |
OMIM:249660 |
| Nephrotic Syndrome, Type 12 |
|
Focal segmental glomerulosclerosis, Hematuria, Stage 5 chronic kidney disease, Steroid-resistant ... |
OMIM:616892 |
| Galloway-Mowat Syndrome 8 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb... |
OMIM:618349 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Peritonitis, ... |
ORPHA:656 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Renal insufficiency, Nephrotic syndrome, Membranoproliferative glomerulonephritis |
OMIM:613779 |
| Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia, Nephrotic syndrome, Podocyte foot process effacement, Glomerular sclerosis, Stag... |
OMIM:619155 |
| Deafness, Autosomal Recessive 119 |
|
Sensorineural hearing impairment |
OMIM:619615 |
| Intellectual Developmental Disorder, Autosomal Recessive 67 |
|
Sensorineural hearing impairment |
OMIM:618295 |
| Nephrotic Syndrome, Type 11 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Nep... |
OMIM:616730 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Renal hypoplasia, Hypertension, Tubulointerstitial nephritis, Renal cortic... |
OMIM:174000 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocyte foot process effacement,... |
OMIM:617006 |
| Deafness, X-Linked 6 |
|
Cochlear malformation, Hearing impairment |
OMIM:300914 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Nephrotic syndrome, Abnormal circulating lipid concentration, Hematuria, Membranoproliferative gl... |
OMIM:608709 |
| C3 Glomerulopathy |
|
Hypertension, Nephrotic syndrome, Hematuria, Elevated circulating creatinine concentration, Stage... |
ORPHA:329918 |
| Cerebellar Ataxia And Neurosensory Deafness |
|
Sensorineural hearing impairment |
OMIM:212850 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Hypertension, Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinu... |
OMIM:137950 |
| Tubulointerstitial Nephritis With Uveitis |
|
Elevated circulating creatinine concentration, Reversible renal failure, Anterior uveitis, Panuve... |
OMIM:607665 |
| Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
| Hyperprolinemia Type 1 |
|
Prolinuria, Hyperprolinemia, Proteinuria, Nephropathy |
ORPHA:419 |
| Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Sensorineural hearing impairment |
OMIM:616460 |
| Fibromatosis, Gingival, With Progressive Deafness |
|
Progressive sensorineural hearing impairment |
OMIM:135550 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Steppage gait, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
| Galloway-Mowat Syndrome 4 |
|
Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidney disease, Macrotia, Diffuse mesan... |
OMIM:617730 |
| Nephrotic Syndrome, Type 14 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Sensorine... |
OMIM:617575 |
| Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypertension, Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insufficiency, Myocardial... |
ORPHA:54370 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Gait ataxia, Nephropathy, Glomerulopathy,... |
OMIM:254900 |
| Deafness-Oligodontia Syndrome |
|
Congenital sensorineural hearing impairment |
OMIM:221740 |
| Ataxia-Deafness-Retardation Syndrome |
|
Progressive sensorineural hearing impairment |
OMIM:208850 |
| Arthrogryposis, Distal, Type 6 |
|
Sensorineural hearing impairment |
OMIM:108200 |
| Nephronophthisis-Like Nephropathy 2 |
|
Bronchiectasis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Po... |
OMIM:619468 |
| Oculorenocerebellar Syndrome |
|
Glomerular sclerosis, Nephropathy |
OMIM:257970 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Progressive hearing impairment, Low-frequency hearing loss, Sensorineural hearing impairment |
OMIM:124900 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Hematuria, Proteinuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis |
OMIM:613913 |
| Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Hydronephrosis, Mesangial Immune complex deposition, Stage 5 chronic kidne... |
OMIM:613496 |
| Galloway-Mowat Syndrome 5 |
|
Nephrotic syndrome, Glomerular sclerosis, Stage 5 chronic kidney disease, Hearing impairment, Ata... |
OMIM:617731 |
| Branchiootorenal Syndrome 2 |
|
Renal dysplasia, Renal insufficiency, Hearing impairment |
OMIM:610896 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:614199 |
| Galloway-Mowat Syndrome 7 |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Eczema, Minimal change glomerulonephri... |
OMIM:618348 |
| Fanconi Renotubular Syndrome 5 |
|
Hypertension, Tubulointerstitial fibrosis, Hypophosphatemia, Stage 5 chronic kidney disease, Glyc... |
OMIM:618913 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Hypertension, IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney dise... |
OMIM:613944 |
| Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Sensorineural hearing impairment, Optic atrophy |
OMIM:136600 |
| Usher Syndrome, Type I |
|
Sensorineural hearing impairment, Absent vestibular function |
OMIM:276900 |
| Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Nephrocalcinosis, Failure to thrive, Hypophosphatemia, Renal phosphate wasting, Me... |
OMIM:616963 |
| Nail-Patella-Like Renal Disease |
|
Hypertension, Microscopic hematuria, Glomerulopathy, Proteinuria, Renal insufficiency |
ORPHA:2613 |
| Iga Nephropathy, Susceptibility To, 3 |
|
Hypertension, IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesang... |
OMIM:616818 |
| Split-Foot Malformation With Mesoaxial Polydactyly |
|
Sensorineural hearing impairment |
OMIM:616890 |
| Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Renal insufficiency, Nephropathy |
OMIM:614227 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Dysmetria, Glomerular sclerosis, Stage 5 c... |
OMIM:301006 |
| Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
| Ectodermal Dysplasia And Neurosensory Deafness |
|
Sensorineural hearing impairment |
OMIM:224800 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Renal cyst, Gout, Hyperuricemia, Nephropathy, Chronic kidney ... |
OMIM:617056 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Hypertension, Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscop... |
OMIM:601894 |
| Galloway-Mowat Syndrome 10 |
|
Podocyte foot process effacement, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
| Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Failure to thrive, Weight loss, Nephrolithiasis, Infantile hypercalcemia, Hyper... |
OMIM:143880 |
| C1Q Deficiency |
|
Membranoproliferative glomerulonephritis |
OMIM:613652 |
| Fibronectin Glomerulopathy |
|
Cerebral hemorrhage, Hypertension, Abnormal glomerular mesangium morphology, Nephrotic syndrome, ... |
ORPHA:84090 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
| Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Abnormal bleeding, Hematuria, Glomerulonephritis |
OMIM:314000 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Proteinuria, Nephrotic syndrome |
OMIM:614652 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Failure to thrive, Stage 5 chronic kidney disease, Hyperalaninemia |
OMIM:618250 |
| Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
| Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Hypertension, Nephrotic syndrome, Nephrocalcinosis, Azo... |
OMIM:104200 |
| Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Chronic kidney disease, Abnormal tubulointerstitial morphology, Nephropathy |
OMIM:602114 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... |
ORPHA:94088 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Sensorineural hearing impairment, Gait disturbance, Proteinuria, Nephropathy |
ORPHA:2820 |
| Dent Disease |
|
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... |
ORPHA:1652 |
| Nephronophthisis 1 |
|
Renal tubular atrophy, Hypertension, Nephronophthisis, Tubulointerstitial fibrosis, Renal cortico... |
OMIM:256100 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Hypertension, IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney dise... |
OMIM:161950 |
| Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:136680 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Failure to thrive, Hyperammonemia, Coma, Renal insufficiency, Lethargy |
ORPHA:28 |
| Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology, Hyperuricemia |
OMIM:609886 |
| Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
| Alport Syndrome |
|
Renal tubular atrophy, Glomerular basement membrane lamellation, Focal segmental glomeruloscleros... |
ORPHA:63 |
| Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Obesity, Renal cyst, Abnormality of the kidney |
OMIM:615987 |
| Complement Component 4A Deficiency |
|
Glomerulonephritis, Vasculitis, Purpura |
OMIM:614380 |
| Complement Factor H Deficiency |
|
Chronic kidney disease, Hematuria, Thickened glomerular basement membrane, Glomerular subendothel... |
OMIM:609814 |
| Cystinuria |
|
Ornithinuria, Nephrolithiasis, Cystinuria, Recurrent urinary tract infections, Argininuria, Hyper... |
OMIM:220100 |
| Hyperlysinuria With Hyperammonemia |
|
Dibasicaminoaciduria, Hyperammonemia, Coma, Hyperlysinuria, Hyperlysinemia, Lethargy |
OMIM:238750 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... |
OMIM:601331 |
| Aapoaiv Amyloidosis |
|
Abnormal cardiac ventricular function, Hypertrophic cardiomyopathy, Hypertension, Sinus bradycard... |
ORPHA:439232 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Nephritis, Gout, Hyperuricemia, Nephropathy, Renal insufficiency |
OMIM:162000 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... |
OMIM:612925 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... |
OMIM:612924 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... |
OMIM:612926 |
| Galactosemia I |
|
Hypergalactosemia, Aminoaciduria, Increased level of galactitol in urine, Failure to thrive, Incr... |
OMIM:230400 |
| Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, Glomerulonephritis |
ORPHA:2172 |
| Proteinuria, Chronic Benign |
|
Albuminuria, Proteinuria |
OMIM:618884 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Macroscopic hematuria, Dystonia, Elevated circulating creatinine concentration, Dysuria, Gout, Hy... |
ORPHA:79233 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Hypertension, Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, Nephro... |
ORPHA:730 |
| Pauci-Immune Glomerulonephritis |
|
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Elevat... |
ORPHA:93126 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Hypertension, Decreased HDL cholesterol concentration, Tubulointerstitial ... |
ORPHA:85450 |
| Marfanoid Habitus With Microcephaly And Glomerulonephritis |
|
Glomerulonephritis, Renal insufficiency |
OMIM:248760 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Glomerulonephritis, Pneumonia |
OMIM:247800 |
| Senior-Loken Syndrome 1 |
|
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease |
OMIM:266900 |
| Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Renal dysplasia, Recurrent otitis media, Renal cyst, Hearing impairment, Obesity,... |
OMIM:615993 |
| Worster-Drought Syndrome |
|
Sensorineural hearing impairment, Abnormal cranial nerve morphology |
ORPHA:3465 |
| Camos Syndrome |
|
Ataxia, Optic atrophy, Renal insufficiency, Nephrotic syndrome |
ORPHA:83472 |
| Membranoproliferative Glomerulonephritis, X-Linked |
|
Cardiac shunt, Membranoproliferative glomerulonephritis |
OMIM:305800 |
| Retinitis Pigmentosa 59 |
|
Sensorineural hearing impairment, Micropenis, Renal insufficiency, Failure to thrive |
OMIM:613861 |
| Non-Syndromic Genetic Deafness |
|
Conductive hearing impairment, Moderate hearing impairment, High-frequency hearing impairment, Ch... |
ORPHA:87884 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Nephrotic Syndrome, Type 16 |
|
Hematuria, Proteinuria, Nephrotic syndrome |
OMIM:617783 |
| Preeclampsia |
|
Small for gestational age, Elevated circulating creatinine concentration, Increased body mass ind... |
ORPHA:275555 |
| Autosomal Recessive Spastic Paraplegia Type 27 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials |
ORPHA:101007 |
| Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
| Senior-Loken Syndrome 6 |
|
Stage 5 chronic kidney disease |
OMIM:610189 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Arthritis, Pulmonary hemorrhage, Mesangial hypercellularity, Crescentic glomerulonephritis, Eleva... |
OMIM:616414 |
| Senior-Loken Syndrome 4 |
|
Nephronophthisis, Polyuria, Stage 5 chronic kidney disease |
OMIM:606996 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hypokalemia, Increased urinary potassium, Failure to thrive, Decreased glomerular f... |
OMIM:602522 |
| Nephronophthisis 4 |
|
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... |
OMIM:606966 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentra... |
OMIM:614376 |
| Ataxia, Deafness, And Cardiomyopathy |
|
Sensorineural hearing impairment |
OMIM:208750 |
| Alport Syndrome 2, Autosomal Recessive |
|
Glomerular basement membrane lamellation, Corneal erosion, Nephrotic syndrome, Hematuria, Nephrit... |
OMIM:203780 |
| Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Failure to thrive, Chronic kidney disease, Hyperuricemia, Hypomagnesemia, Proteinur... |
OMIM:613845 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Nephrotic syndrome, Elevated circulating creatine kinase concentration, Glomerular sclerosis, Sen... |
OMIM:607426 |
| Nephronophthisis 3 |
|
Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst... |
OMIM:604387 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Nephrotic syndrome, EEG with occipital epileptiform discharges, Glomerular sclerosis... |
OMIM:619428 |
| Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Hearing impairment |
OMIM:600501 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ethylmalonic aciduria, Optic atrophy, Dystonia, Failure to thrive, Elevated circulating acylcarni... |
ORPHA:26792 |
| Immunodeficiency 50 |
|
Recurrent urinary tract infections, Neutropenia, Lymphopenia |
OMIM:300988 |
| Nephronophthisis 20 |
|
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:617271 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Failure to thrive, Hyperactivity, Uraciluria, Lethargy |
OMIM:274270 |
| Deafness, Autosomal Dominant 9 |
|
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment, Abnormali... |
OMIM:601369 |
| Deafness, Autosomal Dominant 50 |
|
Progressive hearing impairment, Tinnitus, Sensorineural hearing impairment, Progressive sensorine... |
OMIM:613074 |
| Hypomagnesemia 3, Renal |
|
Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Hematuria, Renal calcium wasting, Ne... |
OMIM:248250 |
| Hematuria, Benign Familial |
|
Thin glomerular basement membrane, Hematuria |
OMIM:141200 |
| Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
| Nathalie Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2663 |
| Thrombotic Thrombocytopenic Purpura |
|
Confusion, Hematuria, Decreased serum creatinine, Coma, Acute kidney injury, Proteinuria, Renal i... |
ORPHA:54057 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Macroscopic hematuria, Hypertension, Focal segmental glomerulosclerosis, Minimal change glomerulo... |
ORPHA:567546 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
| Galloway-Mowat Syndrome 9 |
|
Focal segmental glomerulosclerosis, Macrotia, Stage 5 chronic kidney disease, Low-set ears, Diffu... |
OMIM:619603 |
| Frasier Syndrome |
|
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal insufficiency, Glomer... |
ORPHA:347 |
| Oligomeganephronia |
|
Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Small for gestati... |
ORPHA:2260 |
| Glycine Encephalopathy |
|
Hyperactivity, Hyperglycinuria, Hyperglycinemia, Lethargy |
OMIM:605899 |
| Deafness, X-Linked 2 |
|
Conductive hearing impairment, Dilatated internal auditory canal, Congenital sensorineural hearin... |
OMIM:304400 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Hepatosplenomegaly |
OMIM:162830 |
| Bardet-Biedl Syndrome 18 |
|
Obesity, Renal insufficiency |
OMIM:615995 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Renal cortical hyperechogenicity, Renal hypoplasia, Medullary nephrocalcinosis, Reduced renal cor... |
OMIM:611555 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Hematuria, Iris coloboma, Sensorineural hearing impairment, Corneal opacit... |
ORPHA:1473 |
| Congenital Primary Megaureter |
|
Hydronephrosis, Abnormal penis morphology, Congenital megaureter, Nephrolithiasis, Recurrent urin... |
ORPHA:617 |
| Cryoglobulinemia, Familial Mixed |
|
Hypertension, Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration... |
OMIM:123550 |
| Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
| Urofacial Syndrome 2 |
|
Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure... |
OMIM:615112 |
| Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration, Decreased glomerular filtration rate, Nephropathy |
OMIM:242530 |
| Immunodeficiency 19 |
|
Lymphopenia |
OMIM:615617 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Renal dysplasia, Elevated circulating creatinine concentration, Hearin... |
OMIM:616733 |
| Acquired Partial Lipodystrophy |
|
Glomerulopathy, Microscopic hematuria, Proteinuria, Hearing impairment |
ORPHA:79087 |
| Atypical Hemolytic Uremic Syndrome |
|
Acute kidney injury, Hematuria, Proteinuria |
ORPHA:2134 |
| Maternally-Inherited Diabetes And Deafness |
|
Abnormal circulating lipid concentration, Sensorineural hearing impairment, Ataxia, Glomerulopath... |
ORPHA:225 |
| Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Congenital sensorineural hearing impairment, Vestibular dysfunction, Cochlear aplasia |
OMIM:619553 |
| Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arthritis, Hyperuricosuria, Renal insufficiency, Hyperuricemia, Acute kidney injury, Uric acid ne... |
ORPHA:411536 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Hyperamylasemia, Lacticaciduria, Elevated circulating creatine kinase concentration, Pancreatitis... |
OMIM:619386 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Nephronophthisis 2 |
|
Pulmonary insufficiency, Hypertension, Hyperkalemia, Chronic tubulointerstitial nephritis, Nephro... |
OMIM:602088 |
| Fechtner syndrome |
|
Developmental cataract, Hematuria, Nephritis, Stage 5 chronic kidney disease, High-frequency sens... |
OMIM:153640 |
| Galloway-Mowat Syndrome 3 |
|
Nephrotic syndrome, Failure to thrive, Glomerular sclerosis, Stage 5 chronic kidney disease, Hypo... |
OMIM:617729 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2202 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Optic atrophy, Dystonia, Renal tubular dysfunction, Pancreatitis, Hyperammonemia, Coma, Renal ins... |
ORPHA:289916 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Elevated amniotic fluid alpha-fetoprotein, Proteinuria, Abnormal renal tubule morphology, Nephrot... |
ORPHA:839 |
| Pierson Syndrome |
|
Hypoproteinemia, Posterior lenticonus, Microcoria, Nephrotic syndrome, Hypoplasia of the iris, Ri... |
OMIM:609049 |
| Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Nephronophthisis 7 |
|
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:611498 |
| Hypomagnesemia, Seizures, And Mental Retardation 2 |
|
Hypokalemia, Hypomagnesemia, Hyperactivity, Renal potassium wasting, Polyuria, Renal magnesium wa... |
OMIM:618314 |
| Renal Hypoplasia |
|
Urethral valve, Hydronephrosis, Abnormality of the ureter, Hypertension, Pelvic kidney, Glomerulo... |
ORPHA:93101 |
| Hydroxyprolinemia |
|
Microscopic hematuria, Hydroxyprolinemia |
OMIM:237000 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Optic atrophy, Dystonia, Failure to thrive, Pancreatitis, Hyperammonemia, Coma, Renal insufficien... |
ORPHA:79312 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Methylmalonic acidemia, Methylmalonic aciduria, Failure to thrive, ... |
OMIM:251000 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Cochlear degeneration, Progressive sensorineural hearing impairment |
ORPHA:3233 |
| Actinic Prurigo |
|
Cheilitis, Glomerulonephritis, Pyoderma |
OMIM:174770 |
| Cryofibrinogenemia, Familial Primary |
|
Transient nephrotic syndrome, Hematuria |
OMIM:123540 |
| Dent Disease 2 |
|
Nephrocalcinosis, Elevated circulating creatine kinase concentration, Proximal tubulopathy, Hypop... |
OMIM:300555 |
| Type 1 Diabetes Mellitus |
|
Polyuria, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
| Preeclampsia/Eclampsia 1 |
|
Hypertension, Proteinuria |
OMIM:189800 |
| Lethal Infantile Mitochondrial Myopathy |
|
Renal insufficiency, Lethargy |
ORPHA:254857 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Ethylmalonic aciduria, Facial palsy, Failure to thrive, Lethargy |
OMIM:201470 |
| Neutropenia-Monocytopenia-Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2690 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Aganglionic megacolon, Hyperuricemia, Vesicoureteral reflux, Chronic kidney disea... |
ORPHA:261222 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Macroscopic hematuria, Hypercalcemia, Increased blood urea nitrogen, Membranoproliferative glomer... |
ORPHA:251004 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Proteinuria, Renal insufficiency, Hypertriglyceridemia |
OMIM:245900 |
| Denys-Drash Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Nephropat... |
OMIM:194080 |
| Igg4-Related Kidney Disease |
|
Tubulointerstitial nephritis, Chronic kidney disease, Elevated circulating C-reactive protein con... |
ORPHA:449395 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Hyperhomocystinemia, Gait disturbance, Hypomethioninemia, Failure to thrive, Homocystinuria, Leth... |
OMIM:236270 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Macroscopic hematuria, Hypertension, Urinary hesitancy, Urinary retention, Atrial fibrillation, D... |
ORPHA:976 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Gait imbalance, Elevated circulating creatine kinase concentration, Hyperammonemia, 3-Methylgluta... |
OMIM:618120 |
| Glycogen Storage Disease Xi |
|
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Myoglobinuria, Rena... |
OMIM:612933 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Tubulointerstitial fibrosis |
OMIM:263000 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Conductive hearing impairment, Hypercalcemia, Elevated urinary epinephrine, Pulsatile tinnitus, H... |
ORPHA:276621 |
| Glutaric Acidemia Type 3 |
|
Ketonuria, Failure to thrive, Glutaric aciduria, Elevated circulating glutaric acid concentration... |
ORPHA:35706 |
| Pupillary Membrane, Persistence Of |
|
Developmental cataract, Persistent pupillary membrane, Megalocornea |
OMIM:178900 |
| Cyclic Neutropenia |
|
Neutropenia, Cyclic neutropenia |
OMIM:162800 |
| Myoglobinuria, Autosomal Dominant |
|
Elevated circulating creatine kinase concentration, Acute kidney injury, Myoglobinuria |
OMIM:160010 |
| Cirrhosis, Familial |
|
Lethargy, Increased level of L-fucose in urine, Increased level of propylene glycol in blood |
OMIM:215600 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Hypercalcemia, Proteinuria, Renal insufficiency |
ORPHA:2668 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Hematuria, Cataract |
OMIM:120433 |
| Immunodeficiency 91 And Hyperinflammation |
|
Nephrotic syndrome, Failure to thrive, Hemolytic-uremic syndrome, Recurrent pneumonia, Maculopapu... |
OMIM:619644 |
| Hypouricemia, Renal, 1 |
|
Hypouricemia, Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, ... |
OMIM:220150 |
| Galloway-Mowat Syndrome 1 |
|
Optic atrophy, Focal segmental glomerulosclerosis, Dystonia, Nephrotic syndrome, Small for gestat... |
OMIM:251300 |
| Deafness And Myopia |
|
Profound hearing impairment, Conductive hearing impairment, Hematuria, Proteinuria |
OMIM:221200 |
| Opticocochleodentate Degeneration |
|
Cochlear degeneration, Optic atrophy, Hearing impairment |
OMIM:258700 |
| Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Hydronephrosis, Polyuria, Hypokalemia |
OMIM:304900 |
| Nephronophthisis |
|
Renal insufficiency |
ORPHA:655 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hypokalemia, Increased urinary potassium, Failure to thrive, Decreased glomerular f... |
OMIM:613090 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hypertension, Tubulointerstitial fibrosis, Renal cyst, Polycystic kidney dysplasia, Absence of re... |
OMIM:263200 |
| Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Glomerular basement membrane lamellation, Abnormal renal physiology, Hematuria, Stage 5 chronic k... |
OMIM:308940 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Psoriasiform dermatitis, Hydronephrosis, Deep dermal perivascular inflammatory infiltrate, Nephro... |
ORPHA:49041 |
| Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hematuria, Skin rash, Nephropathy, Proteinuria |
OMIM:105200 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
| Glycogen Storage Disease X |
|
Elevated circulating creatine kinase concentration, Myoglobinuria, Renal insufficiency |
OMIM:261670 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Neutropenia, Lymphopenia |
OMIM:614868 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Hyperisoleucinemia, Failure to thrive, Increased urine alpha-ketoglutarate concentration, Hyperam... |
ORPHA:2394 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Myoglobinuria, Tubulointerstitial nephritis, Elevated circulating long chain fatty acid concentra... |
ORPHA:228302 |
| Hereditary Xanthinuria |
|
Hypouricemia, Hydronephrosis, Decreased urinary urate, Hyperxanthinemia, Increased urinary hypoxa... |
ORPHA:3467 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypertension, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Recu... |
OMIM:613095 |
| Hyperphosphatemia, Polyuria, And Seizures |
|
Polyuria, Hyperphosphatemia |
OMIM:239350 |
| Senior-Loken Syndrome 5 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:609254 |
| Cednik Syndrome |
|
Optic atrophy, Nephrotic syndrome, Macrotia, Sensorineural hearing impairment, Ataxia, Abnormalit... |
ORPHA:66631 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hypokalemia, Distal renal tubular acidosis, Nephrocalcinosis, Failure to thrive, Isothenuria, Let... |
OMIM:611590 |
| Conductive Deafness-Malformed External Ear Syndrome |
|
Conductive hearing impairment, Overfolded helix, Abnormality of the pinna, Sensorineural hearing ... |
ORPHA:3216 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Nephrotic syndrome, Membranous nephropathy, Recurrent otitis media, Stage 5 chronic kidney diseas... |
OMIM:615559 |
| Multiple Carboxylase Deficiency |
|
Optic atrophy, Hyperammonemia, Hearing impairment, Ataxia, Coma, Skin rash, Organic aciduria, Let... |
ORPHA:148 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Nephrolithiasis |
OMIM:614723 |
| Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Abnormal renal physiology, Elevated circulating creatinine concentration, Hemolytic-uremic syndro... |
OMIM:274150 |
| Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Hyperlipidemia, Decreased glomerular filtration rate, Gout, N... |
OMIM:232200 |
| Aicardi-Goutieres Syndrome 9 |
|
Optic atrophy, Dystonia, Pericarditis, Failure to thrive, Weight loss, Glomerular sclerosis, Stag... |
OMIM:619487 |
| Immunodeficiency 24 |
|
Decreased CD4:CD8 ratio, Reduced proportion of mucosal-associated invariant T cells, Lymphopenia,... |
OMIM:615897 |
| Angioma, Hereditary Neurocutaneous |
|
Hematuria |
OMIM:106070 |
| Lesch-Nyhan Syndrome |
|
Hematuria, Renal insufficiency, Gout, Hyperuricemia |
ORPHA:510 |
| Indomethacin Embryofetopathy |
|
Cardiomyopathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Nephropathy, Rena... |
ORPHA:1909 |
| Renal Glucosuria |
|
Polyuria, Enuresis nocturna, Glycosuria |
OMIM:233100 |
| Hyperleucine-Isoleucinemia |
|
Sensorineural hearing impairment |
OMIM:238340 |
| Glycerol Kinase Deficiency |
|
Small for gestational age, Coma, Increased urinary glycerol, Loss of consciousness, Hypertriglyce... |
OMIM:307030 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Nephrotic syndrome, Failure to thrive, Membranous nephropathy, Colonic eosinop... |
OMIM:618999 |
| Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Gout, Arthritis, Hyperuricosuria, Sensorineural hearing impairment, Hyperuricemia, Acute kidney i... |
ORPHA:411543 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Malaria |
|
Gait imbalance, Hyperbilirubinemia, Acute kidney injury, Reduced consciousness/confusion, Elevate... |
ORPHA:673 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Optic atrophy, Pancreatitis, Hyperammonemia, Ataxia, Coma, Renal insufficiency, Lethargy |
ORPHA:27 |
| Central Diabetes Insipidus |
|
