| Deafness, Autosomal Dominant 85 |
|
Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
| Deafness-Oligodontia Syndrome |
|
Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment |
ORPHA:3230 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
| Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
| Deafness, Autosomal Dominant 11 |
|
Abnormal vestibular function, Vertigo, Bilateral sensorineural hearing impairment |
OMIM:601317 |
| Deafness, Autosomal Recessive 2 |
|
Abnormal vestibular function, Vertigo, Sensorineural hearing impairment |
OMIM:600060 |
| Nephrotic Syndrome, Type 23 |
|
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... |
OMIM:619201 |
| Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... |
OMIM:615573 |
| Deafness, Autosomal Recessive 89 |
|
Sensorineural hearing impairment, Vestibular hypofunction |
OMIM:613916 |
| Deafness, Autosomal Recessive 84B |
|
Sensorineural hearing impairment, Vestibular hypofunction |
OMIM:614944 |
| Deafness, Autosomal Recessive 18B |
|
Sensorineural hearing impairment, Vestibular hypofunction |
OMIM:614945 |
| Deafness, Autosomal Recessive 48 |
|
Abnormal vestibular function, Profound sensorineural hearing impairment |
OMIM:609439 |
| Deafness, Autosomal Recessive 94 |
|
Abnormal vestibular function, Bilateral sensorineural hearing impairment |
OMIM:618434 |
| Deafness, Autosomal Dominant 74 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618140 |
| Deafness, Autosomal Recessive 110 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618094 |
| Deafness, Autosomal Dominant 56 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:615629 |
| Deafness, Autosomal Recessive 1A |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:220290 |
| Deafness, Autosomal Dominant 71 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:617605 |
| Deafness, Autosomal Dominant 81 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:619500 |
| Deafness, Autosomal Recessive 7 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:600974 |
| Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... |
OMIM:619263 |
| Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
| Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
| Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
| Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
| Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
| Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
| Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
| Deafness, Autosomal Recessive 30 |
|
Progressive sensorineural hearing impairment, Progressive hearing impairment |
OMIM:607101 |
| Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
| Deafness, Autosomal Recessive 25 |
|
Progressive sensorineural hearing impairment, Hearing impairment |
OMIM:613285 |
| C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
| 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 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:618176 |
| Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... |
OMIM:615008 |
| Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... |
OMIM:617609 |
| 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 2 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:600995 |
| Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... |
OMIM:616515 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
| Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... |
OMIM:620049 |
| Deafness, Autosomal Dominant 20 |
|
Progressive sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:604717 |
| Deafness, Autosomal Dominant 6 |
|
Progressive sensorineural hearing impairment, Low-frequency sensorineural hearing impairment |
OMIM:600965 |
| Deafness, Autosomal Dominant 22 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:606346 |
| Deafness, Sensorineural, Autosomal-Mitochondrial Type |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:221745 |
| Deafness, Autosomal Recessive 15 |
|
Sensorineural hearing impairment, Prelingual sensorineural hearing impairment |
OMIM:601869 |
| Deafness, Autosomal Recessive 79 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:613307 |
| Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
| Deafness, Autosomal Recessive 35 |
|
Sensorineural hearing impairment, Abnormal ear morphology |
OMIM:608565 |
| Deafness, Autosomal Recessive 67 |
|
Sensorineural hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:610265 |
| Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
| Nephrotic Syndrome, Type 10 |
|
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... |
OMIM:615861 |
| Usher Syndrome, Type Ic |
|
Congenital sensorineural hearing impairment, Vestibular hypofunction |
OMIM:276904 |
| Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
| Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Sensorineural hearing impairment, Stage 5 chronic kidne... |
OMIM:614650 |
| Focal Segmental Glomerulosclerosis 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Mi... |
OMIM:613237 |
| Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616893 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Hypertension |
OMIM:607832 |
| Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
| Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
| Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
| Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
| Deafness, Autosomal Dominant 4B |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:614614 |
| Deafness, Autosomal Recessive 101 |
|
Abnormal vestibular function, Bilateral sensorineural hearing impairment |
OMIM:615837 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... |
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 83 |
|
Prelingual sensorineural hearing impairment |
OMIM:613685 |
| Deafness, Autosomal Recessive 24 |
|
Profound sensorineural hearing impairment |
OMIM:611022 |
| Deafness, Autosomal Recessive 46 |
|
Profound sensorineural hearing impairment |
OMIM:609647 |
| Deafness, Autosomal Dominant 70 |
|
Progressive sensorineural hearing impairment |
OMIM:616968 |
| Deafness, Autosomal Recessive 28 |
|
Severe sensorineural hearing impairment |
OMIM:609823 |
| 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 |
| Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus |
OMIM:182690 |
| Deafness, Autosomal Recessive 77 |
|
Bilateral sensorineural hearing impairment |
OMIM:613079 |
| Deafness, Autosomal Dominant 3B |
|
Adult onset sensorineural hearing impairment |
OMIM:612643 |
| Deafness, Autosomal Recessive 63 |
|
Congenital sensorineural hearing impairment |
OMIM:611451 |
| Deafness, Autosomal Dominant 83 |
|
Bilateral sensorineural hearing impairment |
OMIM:619808 |
| Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment |
OMIM:618013 |
| Deafness, Autosomal Dominant 31 |
|
Old-aged sensorineural hearing impairment |
OMIM:608645 |
| Deafness, X-Linked 3 |
|
Congenital sensorineural hearing impairment |
OMIM:300030 |
| Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Sensorineural hearing impairment, Chronic kidney diseas... |
OMIM:615244 |
| Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome |
OMIM:616220 |
| Deafness, Autosomal Dominant 73 |
|
Sensorineural hearing impairment |
OMIM:617663 |
| 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 120 |
|
Sensorineural hearing impairment |
OMIM:620238 |
| 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 Dominant 59 |
|
Sensorineural hearing impairment |
OMIM:612642 |
| 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 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 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, Neural, Congenital Moderate |
|
Sensorineural hearing impairment |
OMIM:221500 |
| Deafness, Autosomal Dominant 84 |
|
Sensorineural hearing impairment |
OMIM:619810 |
| Deafness, X-Linked 1 |
|
Sensorineural hearing impairment |
OMIM:304500 |
| Deafness, Autosomal Dominant 69 |
|
Sensorineural hearing impairment |
OMIM:616697 |
| Deafness, Autosomal Recessive 113 |
|
Sensorineural hearing impairment |
OMIM:618410 |
| Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, 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, Autosomal Recessive 112 |
|
Sensorineural hearing impairment |
OMIM:618257 |
| 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 Recessive 16 |
|
Sensorineural hearing impairment |
OMIM:603720 |
| Deafness, Autosomal Dominant 12 |
|
Sensorineural hearing impairment |
OMIM:601543 |
| Deafness, Autosomal Recessive 31 |
|
Sensorineural hearing impairment |
OMIM:607084 |
| Deafness, Autosomal Dominant 13 |
|
Sensorineural hearing impairment |
OMIM:601868 |
| Deafness, Autosomal Dominant 27 |
|
Sensorineural hearing impairment |
OMIM:612431 |
| Deafness, Autosomal Recessive 98 |
|
Sensorineural hearing impairment |
OMIM:614861 |
| Deafness, Autosomal Recessive 116 |
|
Sensorineural hearing impairment |
OMIM:619093 |
| Deafness, Autosomal Recessive 23 |
|
Sensorineural hearing impairment |
OMIM:609533 |
| Intellectual Developmental Disorder, 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 |
| Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
| Nephrotic Syndrome, Type 21 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... |
OMIM:618594 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... |
ORPHA:567548 |
| Usher Syndrome, Type Iia |
|
Congenital sensorineural hearing impairment |
OMIM:276901 |
| Usher Syndrome, Type Iic |
|
Congenital sensorineural hearing impairment |
OMIM:605472 |
| Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency, Optic atrophy |
OMIM:249660 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Proteinuria, Elevated circulating creatine kinase concentration, Sensorineural hearing impairment... |
OMIM:614455 |
| Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma... |
OMIM:256300 |
| Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
| Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
| Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular base... |
OMIM:619155 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... |
ORPHA:656 |
| Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:616730 |
| Deafness, Autosomal Recessive 119 |
|
Sensorineural hearing impairment |
OMIM:619615 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocyte foot proces... |
OMIM:617006 |
| Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
| Usher Syndrome, Type If |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment |
OMIM:602083 |
| Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
| C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... |
ORPHA:329918 |
| Hyperprolinemia Type 1 |
|
Nephropathy, Hyperprolinemia, Proteinuria, Prolinuria |
ORPHA:419 |
| Cerebellar Ataxia And Neurosensory Deafness |
|
Sensorineural hearing impairment |
OMIM:212850 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneu... |
OMIM:613779 |
| Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:54370 |
| Deafness, Autosomal Recessive 37 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:607821 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ... |
OMIM:620056 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Abnormal ci... |
OMIM:608709 |
| Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
| Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Senso... |
OMIM:617575 |
| Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
| Oculorenocerebellar Syndrome |
|
Glomerular sclerosis, Nephropathy |
OMIM:257970 |
| Arthrogryposis, Distal, Type 6 |
|
Sensorineural hearing impairment |
OMIM:108200 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:613913 |
| Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... |
OMIM:614377 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc... |
OMIM:143880 |
| Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... |
OMIM:617730 |
| Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... |
OMIM:613496 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se... |
OMIM:617056 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
| Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro... |
OMIM:618348 |
| Branchiootorenal Syndrome 2 |
|
Renal insufficiency, Renal dysplasia, Hearing impairment |
OMIM:610896 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... |
OMIM:613944 |
| Hematuria, Benign Familial, 2 |
|
Sensorineural hearing impairment, Microscopic hematuria, Proteinuria, Abnormal glomerular basemen... |
OMIM:620320 |
| Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypertension, Aminoaciduria, Glyco... |
OMIM:618913 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
| Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Sensorineural hearing impairment, Optic atrophy |
OMIM:136600 |
| Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin... |
OMIM:616963 |
| Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria |
ORPHA:2613 |
| Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
| Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,... |
OMIM:616818 |
| Galloway-Mowat Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Large earlobe, S... |
OMIM:617731 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... |
ORPHA:94088 |
| Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
| Ectodermal Dysplasia And Neurosensory Deafness |
|
Sensorineural hearing impairment |
OMIM:224800 |
| C1Q Deficiency 1 |
|
Membranoproliferative glomerulonephritis |
OMIM:613652 |
| Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Nephrotic syndrome, Hypert... |
ORPHA:84090 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... |
OMIM:104200 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
| Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
| Systemic Lupus Erythematosus 16 |
|
Lupus nephritis |
OMIM:614420 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Abnormal bleeding, Glomerulonephritis |
OMIM:314000 |
| Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology |
OMIM:602114 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... |
OMIM:301006 |
| Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... |
OMIM:256100 |
| Galloway-Mowat Syndrome 6 |
|
Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Decreased b... |
OMIM:618347 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Purpura, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA dep... |
OMIM:161950 |
| Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... |
ORPHA:1652 |
| Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology |
OMIM:609886 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
| Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
| Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
| Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
| Deafness-Infertility Syndrome |
|
Sensorineural hearing impairment |
ORPHA:94064 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Lethargy, Renal insufficiency, Failure to thrive, Hyperammonemia |
ORPHA:28 |
| Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Proteinuria, Atrial fibrillation, Cardiac ... |
ORPHA:439232 |
| Complement Component 4A Deficiency |
|
Vasculitis, Glomerulonephritis, Purpura |
OMIM:614380 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
| Cystinuria |
|
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... |
OMIM:220100 |
| Hypouricemia, Renal, 1 |
|
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... |
OMIM:220150 |
| Complement Factor H Deficiency |
|
Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g... |
OMIM:609814 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
| Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, Glomerulonephritis |
ORPHA:2172 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria, Hypertension |
ORPHA:2820 |
| Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Obesity, Renal cyst |
OMIM:615987 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Glomerulonephritis |
OMIM:247800 |
| Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Cataract, Iris coloboma, Hearing impairment |
OMIM:120433 |
| Xanthinuria, Type Ii |
|
Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... |
OMIM:603592 |
| Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
| Hyperlysinuria With Hyperammonemia |
|
Dibasicaminoaciduria, Hyperammonemia, Hyperlysinuria, Lethargy, Hyperlysinemia |
OMIM:238750 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
EEG with parietal epileptiform discharges, Hypospadias, Glomerulonephritis, Proteinuria, Hypsarrh... |
OMIM:619428 |
| Galactosemia I |
|
Increased level of galactitol in plasma, Albuminuria, Aminoaciduria, Galactosuria, Increased leve... |
OMIM:230400 |
| Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis, Cardiac shunt |
OMIM:305800 |
| Senior-Loken Syndrome 6 |
|
Stage 5 chronic kidney disease |
OMIM:610189 |
| Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
| Preeclampsia |
|
Increased body mass index, Proteinuria, Abnormality of the kidney, Small for gestational age, Chr... |
ORPHA:275555 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Crescentic glo... |
OMIM:616414 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Proteinuria, Glomerulonephritis, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614376 |
| Non-Syndromic Genetic Deafness |
|
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... |
ORPHA:87884 |
| Autosomal Recessive Spastic Paraplegia Type 27 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials |
ORPHA:101007 |
| Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ... |
OMIM:613845 |
| Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
| Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Obesity |
OMIM:615995 |
| Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Obesity |
OMIM:615991 |
| Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Cataract, Corneal ero... |
OMIM:203780 |
| Ataxia, Deafness, And Cardiomyopathy |
|
Sensorineural hearing impairment |
OMIM:208750 |
| Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Obesity, Recurre... |
OMIM:615993 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
| Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Pulmonary embolism, Hyperlipidemia, Chronic kidney disease, St... |
ORPHA:567546 |
| Immunodeficiency 50 |
|
Recurrent urinary tract infections, Lymphopenia, Neutropenia |
OMIM:300988 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... |
OMIM:617585 |
| Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... |
OMIM:248250 |
| Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
| Hematuria, Benign Familial, 1 |
|
Hematuria, Thin glomerular basement membrane |
OMIM:141200 |
| Camos Syndrome |
|
Nephrotic syndrome, Renal insufficiency, Optic atrophy |
ORPHA:83472 |
| Deafness, Autosomal Dominant 50 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment, Progressive heari... |
OMIM:613074 |
| Galloway-Mowat Syndrome 9 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:619603 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Nathalie Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2663 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease... |
OMIM:162000 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy, Uraciluria, Failure to thrive, Optic atrophy |
OMIM:274270 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule... |
ORPHA:839 |
| Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Optic atrophy, Ethylmalonic aciduria, Increased... |
ORPHA:26792 |
| Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
ORPHA:347 |
| Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... |
OMIM:618314 |
| Cryoglobulinemia, Familial Mixed |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy... |
OMIM:123550 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Sensorineural hearing impairment, Hematuria, Posterior embryotoxon, Ir... |
ORPHA:1473 |
| Dihydropyrimidinase Deficiency |
|
Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Urac... |
OMIM:222748 |
| Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ... |
ORPHA:2260 |
| Atypical Hemolytic Uremic Syndrome |
|
Hematuria, Acute kidney injury, Proteinuria |
ORPHA:2134 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ... |
OMIM:602088 |
| Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate |
OMIM:242530 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, ... |
ORPHA:97362 |
| Acquired Partial Lipodystrophy |
|
Glomerulopathy, Microscopic hematuria, Proteinuria, Hearing impairment |
ORPHA:79087 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chilblains, Failu... |
OMIM:619858 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Lactica... |
OMIM:619386 |
| Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Arrhyth... |
ORPHA:225 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Elevated circulating creatinine concentration, Abnormal renal corticom... |
OMIM:616733 |
| Nephronophthisis 7 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy |
OMIM:611498 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Proteinuria, Hypoalbuminemia |
OMIM:614652 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Glycine Encephalopathy 1 |
|
Hyperglycinemia, Hyperglycinuria, Lethargy |
OMIM:605899 |
| Deafness, Autosomal Dominant 86 |
|
Abnormal vestibular function, Sensorineural hearing impairment, Tinnitus |
OMIM:620280 |
| Hydroxyprolinemia |
|
Hydroxyprolinemia, Microscopic hematuria |
OMIM:237000 |
| Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... |
OMIM:617729 |
| Actinic Prurigo |
|
Cheilitis, Pyoderma, Glomerulonephritis |
OMIM:174770 |
| Preeclampsia/Eclampsia 1 |
|
Hypertension, Proteinuria |
OMIM:189800 |
| Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri... |
ORPHA:79233 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2202 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
| Cryofibrinogenemia, Familial Primary |
|
Hematuria, Transient nephrotic syndrome |
OMIM:123540 |
| Type 1 Diabetes Mellitus |
|
Polyuria, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
| Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Decreased serum creatinine, A... |
ORPHA:54057 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Sensori... |
OMIM:607426 |
| Lethal Infantile Mitochondrial Myopathy |
|
Lethargy, Renal insufficiency |
ORPHA:254857 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... |
ORPHA:228302 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Leiomyomatosis, Diffuse, With Alport Syndrome |
|
High-frequency sensorineural hearing impairment, Renal insufficiency, Glomerular basement membran... |
OMIM:308940 |
| Glycogen Storage Disease Xi |
|
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... |
OMIM:612933 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Hypercalcemia, Pulsatile tinnitus, Elevated urinary norepinephrine level, Conductive... |
ORPHA:276621 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Obesity, Increased blood ur... |
ORPHA:251004 |
| Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop... |
OMIM:300555 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria |
OMIM:245900 |
| Nephronophthisis |
|
Renal insufficiency |
ORPHA:655 |
| Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration |
OMIM:261670 |
| Glutaric Acidemia Type 3 |
|
Ketonuria, Glutaric aciduria, Abnormality of circulating enzyme level, Elevated circulating gluta... |
ORPHA:35706 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Tubulointerstitial fibrosis |
OMIM:263000 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal insufficiency, Optic atrophy, Hyperammonemia, Renal tubular dysfunction, Lethargy, Pancreat... |
ORPHA:289916 |
| Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Myoglobinuria, Autosomal Dominant |
|
Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration |
OMIM:160010 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio... |
ORPHA:976 |
| Neutropenia-Monocytopenia-Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2690 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Renal insufficiency, Optic atrophy, Hyperammonemia, Lethargy, Failure to thrive, Pancreatitis |
ORPHA:79312 |
| Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
| Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Arthritis, Hyperuricemia... |
ORPHA:411536 |
| Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Cardiomyopathy, Nephropathy, Abnormal renal tu... |
ORPHA:1909 |
| Immunodeficiency 91 And Hyperinflammation |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Elevated ... |
OMIM:619644 |
| Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, D... |
ORPHA:49041 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
| Central Diabetes Insipidus |
|
Hyponatremia, Depression, Weight loss, Lethargy, Failure to thrive, Nocturia |
ORPHA:178029 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia |
ORPHA:2668 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... |
OMIM:613090 |
| Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
| Senior-Loken Syndrome 5 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:609254 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... |
ORPHA:2394 |
| Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Small for gestational age, Optic a... |
OMIM:251300 |
| Lesch-Nyhan Syndrome |
|
Hematuria, Renal insufficiency, Hyperuricemia, Gout |
ORPHA:510 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Proteinuria, Pneumonia, Skin rash, Elevated circulating creatinine concentration, Depression, Apa... |
ORPHA:247691 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent urinary tract infections, Elevated circulating C-reactive protein concentration, Stage ... |
OMIM:615559 |
| Immunodeficiency 24 |
|
Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ... |
OMIM:615897 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Complement Factor I Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
| Angioma, Hereditary Neurocutaneous |
|
Hematuria |
OMIM:106070 |
| Renal Glucosuria |
|
Glycosuria, Polyuria, Enuresis nocturna |
OMIM:233100 |
| Amyloidosis, Familial Visceral |
|
Proteinuria, Skin rash, Hematuria, Nephrotic syndrome, Nephropathy |
OMIM:105200 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Abnormality of the kidney, Proteinuria, Aganglionic megacolon, Chronic kidney dis... |
ORPHA:261222 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis, Failure to thrive, Let... |
OMIM:611590 |
| Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Hypouricemia, Xanthin... |
ORPHA:3467 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Nephrotic syndrome, Membranous nephropathy, Colonic eosinophilia, Failure to t... |
OMIM:618999 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Lethargy,... |
OMIM:236270 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Lethargy, 3-Methylglutaconic aciduria, Elevated circulating creatine kinase concentration, Hypera... |
OMIM:618120 |
| Glycogen Storage Disease Ia |
|
Proteinuria, Hyperlipidemia, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, Hyperuric... |
OMIM:232200 |
| Uremic Pruritus |
|
Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec... |
ORPHA:94059 |
| Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Cataract, Proteinuria, Absence of renal corticom... |
OMIM:120330 |
| Coach Syndrome 3 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht... |
OMIM:619113 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Transient ischemic attack, Myocardial infarction, Hemolytic-uremic syndrome, Elevate... |
OMIM:274150 |
| Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Elevated circulating creatinine concentration, Increased blood urea nitr... |
OMIM:223900 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Hyperleucine-Isoleucinemia |
|
Sensorineural hearing impairment |
OMIM:238340 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
| Aicardi-Goutieres Syndrome 9 |
|
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Chilblains, Acute pancreati... |
OMIM:619487 |
| Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
| Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Renal insufficiency, Increased circulating NT-proBNP c... |
ORPHA:85443 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
| Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... |
ORPHA:2364 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Hypercalcemia, Pulsatile tinnitus, Elevated urinary norepinephrine level, Conductive... |
ORPHA:29072 |
| Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
| Nephrosialidosis |
|
Nephropathy, Nephrotic syndrome, Renal insufficiency |
OMIM:256150 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalonic aciduria, T... |
OMIM:251000 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differentiation, Hema... |
OMIM:263200 |
| Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Sensorineural hearing... |
OMIM:301050 |
| Cednik Syndrome |
|
Proteinuria, Sensorineural hearing impairment, Optic atrophy, Nephrotic syndrome, Macrotia, Abnor... |
ORPHA:66631 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:254900 |
| Lessel-Kubisch Syndrome |
|
Hypertension, Renal insufficiency, Renal hypoplasia |
OMIM:618681 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
| Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal pinna m... |
ORPHA:79147 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Decreased nerve conduction velocity, Hyperammonemia, Hyperornithinemia, Acute hepatitis, Failure ... |
OMIM:238970 |
| Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
| Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Lethargy, Dicarboxylic aciduria |
OMIM:615026 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Hypernatremia, Megacystis, Polyuria |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Hypernatremia, Megacystis, Polyuria |
OMIM:304800 |
| Rhabdomyolysis, Susceptibility To, 1 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration |
OMIM:620235 |
| Systemic Lupus Erythematosus |
|
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis |
OMIM:152700 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Supraventricular arrhyth... |
OMIM:611773 |
| Hyperuricemia, Hprt-Related |
|
Renal insufficiency, Nephrolithiasis, Hyperuricosuria, Hyperuricemia, Podagra |
OMIM:300323 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Proteinuria, Hyperbilirub... |
OMIM:620010 |
| Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
| Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
| Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
| Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Renal insufficiency, Optic atrophy, Hyperammonemia, Lethargy, Pancreatitis |
ORPHA:27 |
| Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
| Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
| Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Vasculitis, Hematuria, Arthritis, Purpura |
ORPHA:375 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Hepatic Veno-Occlusive Disease |
|
Renal insufficiency, Increased body weight, Increased total bilirubin |
ORPHA:890 |
| Denys-Drash Syndrome |
|
Proteinuria, Nephrotic syndrome, Hypertension, Nephropathy, Nephroblastoma |
ORPHA:220 |
| Systemic Sclerosis |
|
Elevated circulating creatine kinase concentration, Intestinal bleeding, Abnormality of the kidne... |
ORPHA:90291 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Isolated Atp Synthase Deficiency |
|
Sensorineural hearing impairment, Optic atrophy, Renal hypoplasia, Hyperammonemia, 3-Methylglutac... |
ORPHA:254913 |
| Glycogen Storage Disease Iv |
|
Cardiomyopathy, Portal hypertension, Tubulointerstitial fibrosis |
OMIM:232500 |
| Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
| Glycogen Storage Disease Ib |
|
Proteinuria, Hyperlipidemia, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, Inflammat... |
OMIM:232220 |
| Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Hematuria, Nephropathy, Nephrolithiasis |
ORPHA:2196 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketonuria, Hyperlipidemia, Glycosuria, Lethargy, Failure to thrive |
ORPHA:2089 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly |
OMIM:613977 |
| Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Lethargy, ... |
ORPHA:470 |
| Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
| Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... |
OMIM:610205 |
| Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Sensorineural hearing impairment |
OMIM:616460 |
| Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Sensorineural hearing impairment, Gout, Hyperuricosuria, Arthr... |
ORPHA:411543 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
| Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
| Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
| Deafness, Autosomal Dominant 64 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:614152 |
| Deafness, Autosomal Dominant 67 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:616340 |
| Deafness, Autosomal Dominant 36 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:606705 |
| Deafness, Autosomal Dominant 77 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:618915 |
| Deafness, Autosomal Dominant 72 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:617606 |
| Deafness, Autosomal Dominant 82 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:619804 |
| Deafness, Y-Linked 1 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:400043 |
| Deafness, Autosomal Dominant 43 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:608394 |
| Deafness, Autosomal Dominant 33 |
|
Sensorineural hearing impairment, Tinnitus |
OMIM:614211 |
| Liddle Syndrome |
|
Renal insufficiency, Hypertension, Hypokalemia, Cerebral ischemia, Nephropathy, Arrhythmia |
ORPHA:526 |
| Holocarboxylase Synthetase Deficiency |
|
Eczema, Hyperammonemia, Keratoconjunctivitis, Weight loss, Organic aciduria, Lethargy, Perioral e... |
ORPHA:79242 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
| Glycogen Storage Disease V |
|
Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:232600 |
| Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Failure to thriv... |
OMIM:210200 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Sensorineural hearing impairment |
OMIM:608653 |
| Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn... |
OMIM:616307 |
| Trimethylaminuria |
|
Trimethylaminuria, Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
| Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas |
OMIM:134610 |
| Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Spider hemangioma, Chronic pancreatitis, Hyperlipidemia, Gout, ... |
OMIM:232240 |
| Myh9-Related Disease |
|
Prolonged bleeding time, Renal insufficiency, Spontaneous, recurrent epistaxis, Proteinuria, Myoc... |
ORPHA:182050 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Failure to thrive, Proximal tubulopathy, Polyuria, Hearing impairment |
OMIM:560000 |
| Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... |
OMIM:603860 |
| Pierson Syndrome |
|
Diffuse mesangial sclerosis, Rieger anomaly, Cataract, Proteinuria, Hypoplasia of the ciliary bod... |
OMIM:609049 |
| Deafness, Autosomal Dominant 23 |
|
Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:605192 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... |
OMIM:235400 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Cataract, Hypospadias, Posteriorly rotated ears, Brushfield spots, Cryptorchidism, Sensorineural ... |
OMIM:214100 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Giant cell hepatitis, Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular... |
OMIM:613404 |
| Non-Functioning Paraganglioma |
|
Pulsatile tinnitus, Hypercalcemia, Elevated urinary norepinephrine level, Paroxysmal vertigo, Ele... |
ORPHA:94080 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Prolonged bleeding following procedure, Nephrocalcinosis, Inflammation of the large intestine, Pe... |
ORPHA:79259 |
| Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Proteinuria, Small for gestational age, Minimal change glomerulonephritis, Hyp... |
ORPHA:1830 |
| Bardet-Biedl Syndrome 17 |
|
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Obesity, Micropenis |
OMIM:615994 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c... |
OMIM:613095 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Focal segmental glomerulosclerosis, Optic atrophy, Elevated circulating creatine kinase concentra... |
OMIM:616239 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Splenomegaly, Monocyto... |
OMIM:614470 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Elevated systolic blood pressure, Hypo... |
OMIM:300539 |
| Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Renal ... |
OMIM:255120 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Aortic valve stenosis, Polycystic kidney dys... |
OMIM:615382 |
| Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
| Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
| Nail-Patella Syndrome |
|
Keratoconus, Renal insufficiency, Cataract, Proteinuria, Glomerulonephritis, Sensorineural hearin... |
OMIM:161200 |
| Developmental And Epileptic Encephalopathy 41 |
|
Nephrocalcinosis, EEG abnormality, Lethargy, Hypsarrhythmia |
OMIM:617105 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Glomerulonephritis, Thyroiditis |
OMIM:619375 |
| Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
| Malaria |
|
Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypertension, Cardiomyopathy, Hyperuricemia, Arrhythmia |
ORPHA:3222 |
| Aa Amyloidosis |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... |
ORPHA:85445 |
| Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Hypoalbuminem... |
ORPHA:36234 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
| 46,Xy Sex Reversal 4 |
|
Sensorineural hearing impairment, Elevated circulating creatinine concentration, Hydronephrosis, ... |
OMIM:154230 |
| Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Hypercalciuria, Aminoaciduria, Hypophosph... |
OMIM:239200 |
| Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Viral hepatitis, Renal insufficiency, Membranoproliferative glomerul... |
ORPHA:91139 |
| Tyrosinemia, Type I |
|
Hypertyrosinemia, Renal insufficiency, Elevated circulating alpha-fetoprotein concentration, Neph... |
OMIM:276700 |
| Deafness, Autosomal Dominant 16 |
|
Adult onset sensorineural hearing impairment, Tinnitus |
OMIM:603964 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoargininemia, Hyperglutaminemia, Low plasma... |
OMIM:615751 |
| Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... |
OMIM:609583 |
| Retinitis Pigmentosa 59 |
|
Renal insufficiency, Failure to thrive, Sensorineural hearing impairment, Micropenis |
OMIM:613861 |
| Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypsarrhythmia, Renal... |
ORPHA:324525 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Tubulointerstitial nephritis, Proteinuria, Low-set ears |
OMIM:616901 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Hypercalcemia, Renal salt wasting, ... |
OMIM:601678 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Sensorineural hearing impairment, Chronic kidney disease, Thickened glomerular basem... |
OMIM:146255 |
| Acrorenal Syndrome |
|
Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia |
ORPHA:971 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Elevated circulating creatine kina... |
ORPHA:42 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Lacticaciduria, Hyperglycinuria, Elevated circ... |
OMIM:605711 |
| Argininemia |
|
EEG abnormality, Diaminoaciduria, Hyperammonemia |
ORPHA:90 |
| Cystinuria |
|
Hematuria, Hyperuricemia, Renal insufficiency, Nephrolithiasis |
ORPHA:214 |
| Imerslund-Grasbeck Syndrome 1 |
|
Microscopic hematuria, Proteinuria |
OMIM:261100 |
| Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re... |
OMIM:613388 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ... |
OMIM:601198 |
| Deafness, Autosomal Recessive 103 |
|
Abnormal vestibular function, Sensorineural hearing impairment, Vestibular areflexia |
OMIM:616042 |
| Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
| Autoimmune Hepatitis |
|
Viral hepatitis, Glomerulonephritis, Fulminant hepatitis, Thyroiditis, Ulcerative colitis, Depres... |
ORPHA:2137 |
| Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Renal hypoplasia, Obesity, Hydronephrosis, Hearing impairment |
OMIM:615996 |
| Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
| Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Proteinuria, Recurrent pneumonia, Optic atrophy, Nephrotic syndrome, Focal segmental glomeruloscl... |
OMIM:617303 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia |
ORPHA:33111 |
| Cystinosis, Nephropathic |
|
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... |
OMIM:219800 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Proteinuria, Hypouricemia, Large for gestational age, Hypophosphatemia, Nephro... |
OMIM:616026 |
| Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Hemolytic-uremic syn... |
OMIM:277400 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Renal insufficiency, Failure to thrive, Proteinuria, Hypocalcemic tetany, Hypourice... |
ORPHA:411634 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Ketonuria, Seborrheic dermatitis, Hyperglycinuria, Hyperammonemia, Organic ... |
OMIM:210210 |
| Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphop... |
ORPHA:444463 |
| Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Nephritis, Sensorineural hearing impairment |
ORPHA:3327 |
| Deafness, Autosomal Recessive 108 |
|
Congenital sensorineural hearing impairment |
OMIM:617654 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... |
OMIM:609015 |
| Amyloidosis, Finnish Type |
|
Nephrotic syndrome, Renal insufficiency, Cardiomyopathy |
OMIM:105120 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib... |
OMIM:619902 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, A... |
OMIM:603552 |
| Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... |
OMIM:615862 |
| Muckle-Wells Syndrome |
|
Renal insufficiency, Maculopapular exanthema, Elevated circulating C-reactive protein concentrati... |
OMIM:191900 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polyuria, Renal salt wasting, Sensorineural hearing impairment, Enuresis, Hypokalemia, Hypocalciu... |
OMIM:612780 |
| Helix Syndrome |
|
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria |
OMIM:617671 |
| Glutamate Formiminotransferase Deficiency |
|
Megaloblastic anemia, Positive ferric chloride test, Aminoaciduria, Elevated urinary formiminoglu... |
OMIM:229100 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Lethargy, Aminoaciduria, Failure to thrive |
OMIM:250620 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ... |
ORPHA:158684 |
| Hyperprolinemia Type 2 |
|
Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Hyperprolinemia, Depressi... |
ORPHA:79101 |
| Transcobalamin Deficiency |
|
Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop... |
ORPHA:859 |
| Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Renal corticomedu... |
OMIM:243910 |
| Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Sensorineural hearing impairment, Nephrotic syndrome, Proteinuria |
ORPHA:1192 |
| Senior-Loken Syndrome |
|
Hypertension, Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis |
ORPHA:3156 |
| Carnitine Deficiency, Systemic Primary |
|
Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia, Lethar... |
OMIM:212140 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Congenital sensorineural hearing impairment, Failure to thrive, Elevated circulating creatinine c... |
OMIM:617872 |
| Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Propionic Acidemia |
|
Increased level of hippuric acid in urine, Eczema, Hyperglycinuria, Hyperammonemia, Hyperglycinem... |
OMIM:606054 |
| Deafness, Autosomal Dominant 41 |
|
Progressive sensorineural hearing impairment, Tinnitus |
OMIM:608224 |
| Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count |
OMIM:618394 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Lymphopenia |
OMIM:615401 |
| Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology, Elevated circulating creatine kinase concentration |
ORPHA:101082 |
| Relapsing Fever |
|
Abnormal bleeding, Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration,... |
ORPHA:91547 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Organic aciduria, Failure to thrive in infancy, Hyper... |
ORPHA:6 |
| Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication |
ORPHA:147 |
| Waardenburg Syndrome, Type 2B |
|
Sensorineural hearing impairment |
OMIM:600193 |
| Megabladder, Congenital |
|
Multiple glomerular cysts, Left ventricular noncompaction cardiomyopathy, Stage 5 chronic kidney ... |
OMIM:618719 |
| Hyperaldosteronism, Familial, Type Iii |
|
Hypercalciuria, Hypokalemia, Polyuria, Decreased circulating renin level |
OMIM:613677 |
| Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morpholog... |
OMIM:614227 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
| Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Tinnitus, Bilateral sensorineural hearing impairment, High-frequency hearing impairment |
OMIM:605594 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Renal insufficiency, Proteinuria, Macrotia, Optic atrophy, U... |
ORPHA:90321 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Bilateral renal a... |
OMIM:166300 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Small for gestational age, Renal sa... |
OMIM:241200 |
| Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Orthostatic hypotension, Sta... |
OMIM:191800 |
| Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Sensorineural hearing ... |
ORPHA:36412 |
| Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
| Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Lethargy, Renal dyspla... |
OMIM:614922 |
| Laurence-Moon Syndrome |
|
Low-set, posteriorly rotated ears, Renal insufficiency, Hypoplasia of penis, Sensorineural hearin... |
ORPHA:2377 |
| Methylcobalamin Deficiency Type Cble |
|
Glomerulopathy, Hypomethioninemia, Hemolytic-uremic syndrome, Hyperhomocystinemia, Lethargy, Fail... |
ORPHA:2169 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyper... |
OMIM:620366 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hyperlipidemia, Failure to thrive, Proteinuria, Abnormality of the kidney |
ORPHA:369 |
| Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Proteinuria, Small for gestational age, Stage 5 chronic kidney disease, Foca... |
OMIM:242900 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated circulating creatine kinase concentrat... |
OMIM:201475 |
| Usher Syndrome, Type Iiia |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:276902 |
| Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Re... |
ORPHA:1475 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, 2-ethylhydracylic aciduria |
OMIM:610006 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Elevated ... |
OMIM:614857 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
| Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2027 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hypomethioninemia, Skin rash, Unilateral renal agenesis, Methylmalonic aciduria, Elevated circula... |
ORPHA:79284 |
| Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Renal insufficiency, Posteriorly rotated ears, Elevated circulating creatin... |
OMIM:608836 |
| Citrullinemia, Classic |
|
Failure to thrive, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Elevated pla... |
OMIM:215700 |
| Small Cell Carcinoma Of The Bladder |
|
Hematuria, Hypercalcemia, Recurrent urinary tract infections, Dysuria |
ORPHA:284400 |
| Maple Syrup Urine Disease |
|
Increased level of hippuric acid in urine, Elevated circulating branched chain amino acid concent... |
OMIM:248600 |
| Deafness And Myopia |
|
Sensorineural hearing impairment |
OMIM:221200 |
| Heme Oxygenase 1 Deficiency |
|
Proteinuria, Elevated circulating C-reactive protein concentration, Increased circulating ferriti... |
OMIM:614034 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Gout, Hypertension, Polycystic kidney dyspla... |
OMIM:618061 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
| Familial Isolated Hyperparathyroidism |
|
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos... |
ORPHA:99879 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Decreased urinary potassium, Renal salt wasting, Hyperkale... |
ORPHA:427 |
| Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Tachycardia, Recurrent myoglobinuria, Elevated circulating creatine kinase concentrat... |
ORPHA:368 |
| Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
| Gitelman Syndrome |
|
Polyuria, Renal magnesium wasting, Enuresis, Hypokalemia, Hypocalciuria, Increased circulating re... |
OMIM:263800 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Glomerulonephritis, Hepatitis, Arthritis, Erythroderma, Failure to thrive |
OMIM:304790 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Meningococcal Meningitis |
|
Papilledema, Renal insufficiency, Skin rash, Elevated circulating C-reactive protein concentratio... |
ORPHA:33475 |
| Glycogen Storage Disease Vii |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Gout, Hematur... |
OMIM:232800 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentration, Increased ... |
ORPHA:263455 |
| Idiopathic Pulmonary Hemosiderosis |
|
Failure to thrive, Glomerulonephritis |
ORPHA:99931 |
| X-Linked Spinocerebellar Ataxia Type 3 |
|
Sensorineural hearing impairment, Optic atrophy |
ORPHA:85297 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Hepatosplenomegaly, T l... |
OMIM:619924 |
| Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Ketonuria, Hyperammonemia, Methylmalonic aciduria, Hyperglycinemia, Letha... |
OMIM:251110 |
| Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
OMIM:604250 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
| Joubert Syndrome 35 |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal fibrosis, Low-set ears, H... |
OMIM:618161 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
| Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Hyperkalemia, ... |
OMIM:617595 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas... |
OMIM:620138 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumoni... |
OMIM:102700 |
| Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Viral hepatitis, Proteinuria, V... |
ORPHA:91138 |
| Diffuse Alveolar Hemorrhage |
|
Hematuria, Elevated circulating creatinine concentration, Proteinuria, Weight loss |
ORPHA:90060 |
| Glucose-Galactose Malabsorption |
|
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H... |
ORPHA:35710 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin... |
ORPHA:48435 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Elevated urinary dopamine level, Elevated circulating crea... |
ORPHA:230 |
| Hereditary Mucoepithelial Dysplasia |
|
Hematuria, Cataract, Corneal dystrophy, Abnormality of the bladder |
ORPHA:1839 |
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Failure to thrive, Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma citru... |
OMIM:311250 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi... |
ORPHA:37042 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Hematuria, Nephropathy, Proteinuria, Corneal opacity |
ORPHA:1765 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... |
OMIM:614748 |
| Orthostatic Hypotension 1 |
|
Hypomagnesemia, Orthostatic hypotension, Nocturia, Increased blood urea nitrogen |
OMIM:223360 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
| N-Acetylglutamate Synthase Deficiency |
|
Lethargy, Failure to thrive, Hyperglutamatemia, Hyperammonemia |
OMIM:237310 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, Hyperammonemia... |
ORPHA:159 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
| Saccharopinuria |
|
Citrullinuria, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnormality of circul... |
ORPHA:3124 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... |
OMIM:137940 |
| Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Hyperammonemia, ... |
OMIM:251100 |
| Teratoma, Pineal |
|
Polyuria |
OMIM:273120 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Renal tubular acidosis, Lethargy, Transient hyperlipidemia |
ORPHA:156 |
| Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
| Cystinosis |
|
Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Hypokalemia, Hypophos... |
ORPHA:213 |
| Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Proteinuria, Glomerulonephritis, Elevated circulating creatin... |
ORPHA:90068 |
| Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Myositis, Recurrent myoglobinuria, Exercise-induced myoglobinuri... |
ORPHA:99845 |
| Holocarboxylase Synthetase Deficiency |
|
Skin rash, Hyperammonemia, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, 3-hy... |
OMIM:253270 |
| Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology, Elevated circulating creatine kinase concentration |
OMIM:160565 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr... |
ORPHA:71212 |
| Acquired Ichthyosis |
|
Renal insufficiency, Recurrent skin infections |
ORPHA:454 |
| Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... |
OMIM:609057 |
| Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
| Corneal Dystrophy And Perceptive Deafness |
|
Sensorineural hearing impairment |
OMIM:217400 |
| Developmental And Epileptic Encephalopathy 40 |
|
Lethargy, Small for gestational age, Hypsarrhythmia |
OMIM:617065 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Tachycardia, Skin rash, Heart block, Elevated circulating creati... |
ORPHA:542323 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Chronic kidney disease, ... |
ORPHA:447 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Pancreatitis... |
ORPHA:247585 |
| Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement |
|
Sensorineural hearing impairment, Vestibular areflexia |
OMIM:609006 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Sensorineural hearing impairment |
OMIM:221700 |
| Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Increased blood urea nitrogen,... |
OMIM:233450 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality |
OMIM:617519 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... |
OMIM:300554 |
| Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Hypercalciuria, Generalized aminoaciduri... |
OMIM:227810 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Small for gestational age, Nephrotic syndrome, Mucopolysacchariduria, Proteinuria |
OMIM:215250 |
| Rhabdoid Tumor |
|
Hematuria, Renal neoplasm, Hypercalcemia |
ORPHA:69077 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, EEG with generalized epileptiform discharges, ... |
ORPHA:35878 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Increased level of L-pyroglutamic acid in urine, Neutropenia |
OMIM:266130 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Renal insufficiency, Small for gestational age, Congenital sensorineura... |
OMIM:619147 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
| Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
| Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Failure to thrive, Skin rash |
ORPHA:26 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Weight loss, Renal tubular ... |
ORPHA:99885 |
| Immunodeficiency 76 |
|
Splenomegaly, Lymphopenia, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
| Pseudo-Torch Syndrome 3 |
|
Proteinuria, Cerebral hemorrhage, Increased circulating ferritin concentration, Lymphadenitis, Hy... |
OMIM:618886 |
| Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Abnormality of the m... |
ORPHA:107 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Jeune Syndrome |
|
Nephropathy, Renal insufficiency, Nephronophthisis |
ORPHA:474 |
| Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Renal so... |
ORPHA:320 |
| Alg1-Cdg |
|
Nephrotic syndrome, Renal insufficiency, Hypoalbuminemia, Abnormality of the kidney |
ORPHA:79327 |
| Diffuse Neonatal Hemangiomatosis |
|
Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia |
ORPHA:2123 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt... |
ORPHA:284426 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Small for gestational age, Skin rash, Cystathioninuria, Methylmalonic aci... |
OMIM:277380 |
| Wild Type Attr Amyloidosis |
|
Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Abnormal autonomic nervous sys... |
ORPHA:330001 |
| Hypomagnesemia 2, Renal |
|
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia |
OMIM:154020 |
| Melas |
|
Bipolar affective disorder, Proteinuria, Sensorineural hearing impairment, Optic atrophy, Depress... |
ORPHA:550 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Low-set ears, Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis |
OMIM:617661 |
| Biotinidase Deficiency |
|
Skin rash, Recurrent skin infections, Seborrheic dermatitis, Sensorineural hearing impairment, Op... |
OMIM:253260 |
| Argininosuccinic Aciduria |
|
Failure to thrive, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Aminoaciduri... |
OMIM:207900 |
| Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Knee osteoar... |
ORPHA:2035 |
| Free Sialic Acid Storage Disease |
|
Nephrotic syndrome, Proteinuria, Failure to thrive in infancy |
ORPHA:834 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Myoglobinuria, Hyperkalemia, Arrhythmia, Elevated creatine kinase after exercise, Acute kidney in... |
ORPHA:57 |
| Cystic Echinococcosis |
|
Membranous nephropathy, Hyperbilirubinemia, Renal cyst, Weight loss |
ORPHA:400 |
| Deafness-Vitiligo-Achalasia Syndrome |
|
EEG abnormality, Sensorineural hearing impairment |
ORPHA:3239 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... |
OMIM:171420 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Failure to thrive |
ORPHA:79283 |
| Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalb... |
OMIM:226990 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Sensorineural hearing impairment, Obesity, Periodontitis, Moderate albuminuria, Hydronephrosis |
OMIM:619269 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Urachal cy... |
OMIM:608203 |
| Thymoma |
|
Myositis, Glomerulonephritis, Ulcerative colitis, Weight loss, Rheumatoid arthritis |
ORPHA:99867 |
| Abcd Syndrome |
|
Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari... |
OMIM:600501 |
| Glut1 Deficiency Syndrome 1 |
|
EEG abnormality, Paroxysmal lethargy, Lethargy |
OMIM:606777 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Cataract, Proteinuria, Keratitis, Sensorineural hearing impairment, Chronic kidney disease, Stage... |
ORPHA:1018 |
| Scrub Typhus |
|
Anterior uveitis, Renal insufficiency, Skin rash, Myocarditis, Lethargy, Infectious encephalitis |
ORPHA:83317 |
| Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Failure to thrive |
ORPHA:622 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... |
ORPHA:52368 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E... |
ORPHA:228308 |
| Isovaleric Acidemia |
|
Lethargy, Hyperglycinuria |
OMIM:243500 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... |
OMIM:600740 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
| Immunodeficiency 95 |
|
Lymphopenia |
OMIM:619773 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
| Early Myoclonic Encephalopathy |
|
EEG abnormality, Lethargy, Hypsarrhythmia |
ORPHA:1935 |
| Cholera |
|
Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo... |
ORPHA:173 |
| Mu-Heavy Chain Disease |
|
Nephropathy, Bence Jones Proteinuria, Weight loss |
ORPHA:100024 |
| Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Sensorineural hearing impairment, Proteinuria, Renal artery stenosis |
OMIM:209010 |
| Middle Ear Neuroendocrine Tumor |
|
Abnormality of the tympanic membrane, Facial palsy, Abnormality of the auditory canal, Sensorineu... |
ORPHA:100084 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronephrosis, Thrombocyto... |
OMIM:598500 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Failure to thrive in infancy, Sensorineural hearing impairment, Chronic kidney disea... |
ORPHA:488627 |
| Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
| Usher Syndrome, Type Ie |
|
Congenital sensorineural hearing impairment, Vestibular areflexia |
OMIM:602097 |
| Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Failure to thrive, Functional abnormality of the bladder, Enure... |
ORPHA:223 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:212138 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... |
OMIM:248190 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Low-set ears, Hypoma... |
OMIM:618183 |
| Immunodeficiency 23 |
|
Membranoproliferative glomerulonephritis, Allergic rhinitis, Eczema, Sensorineural hearing impair... |
OMIM:615816 |
| Hereditary Fructose Intolerance |
|
Renal insufficiency, Chronic kidney disease, Hypermagnesemia, Hyperuricemia, Hypophosphatemia, Le... |
ORPHA:469 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Exercise-induced myoglobinuria |
OMIM:300653 |
| Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Discoid lupus rash, Hematuria,... |
ORPHA:93552 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Tricuspid regurgitation, Recurrent myoglobinuria, ... |
OMIM:620300 |
| Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Failure to thrive, Hypocitraturia, Sensorineural hearing impairment, Nephrolit... |
ORPHA:18 |
| Majeed Syndrome |
|
Glomerulopathy, Inflammatory abnormality of the skin, Osteomyelitis, Proteinuria, Acne, Microscop... |
ORPHA:77297 |
| Nephroblastoma |
|
Hematuria, Nephroblastoma, Aniridia |
ORPHA:654 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, EEG abnormality, 3-... |
OMIM:246450 |
| Coach Syndrome 2 |
|
Hypertension, Hyperechogenic kidneys, Elevated circulating creatinine concentration |
OMIM:619111 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Lethargy,... |
OMIM:277410 |
| Relapsing Polychondritis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Chondritis of pinna... |
ORPHA:728 |
| Myoglobinuria, Recurrent |
|
Recurrent myoglobinuria, Exercise-induced myoglobinuria |
OMIM:550500 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Low-set, posteriorly rotated ears, Renal insufficiency, Proteinuria, Sensorineural hearing impair... |
ORPHA:1307 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo... |
OMIM:617780 |
| Systemic Lupus Erythematosus |
|
Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Cheilitis, Depression, Hematuria, Arthr... |
ORPHA:536 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Renal insufficiency, Hyperbilirubinemia |
ORPHA:713 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Lethargy, Medium chain dicarboxylic aciduria, Hyperglycinuria |
OMIM:201450 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... |
OMIM:145600 |
| Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype... |
OMIM:229600 |
| Prune Belly Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... |
ORPHA:2970 |
| Developmental And Epileptic Encephalopathy 92 |
|
EEG abnormality, Lethargy |
OMIM:617829 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria, Cachexia |
ORPHA:2774 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Aminoaciduria, Renal Fa... |
ORPHA:436271 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Raynaud phenomenon, Recurrent otitis media, Rheumatoid arthritis, Recurrent sinusitis,... |
OMIM:607944 |
| Immunodeficiency 46 |
|
Conjunctivitis, Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
| Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
EEG abnormality, Herpes simplex encephalitis, Lethargy |
OMIM:617900 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Microscopic Polyangiitis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Sinusitis, Increased inflammatory response, Pe... |
ORPHA:727 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Proteinuria, Aminoaciduria, Subcutaneous hemorrhage, Pulmonary hemorrhage |
OMIM:603585 |
| Alagille Syndrome 1 |
|
Duplicated collecting system, Hypertriglyceridemia, Multiple small medullary renal cysts, Macroti... |
OMIM:118450 |
| Legionnaires Disease |
|
Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Myocarditis, Hepatitis, Endocarditi... |
ORPHA:549 |
| Papa Syndrome |
|
Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Arthritis, Crohn's disease |
ORPHA:69126 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
| Becker Muscular Dystrophy |
|
Abnormal urinary color, Myoglobinuria, Elevated circulating creatine kinase concentration |
ORPHA:98895 |
| Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis... |
OMIM:158310 |
| Usher Syndrome Type 3 |
|
Cataract, Sensorineural hearing impairment, Abnormal cochlea morphology, Astigmatism, Vestibular ... |
ORPHA:231183 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... |
OMIM:308240 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia, Chorioretinal coloboma |
ORPHA:1116 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hypertension, Renal insufficiency, Mitral regurgitation, Polycystic kidney dysplasia |
OMIM:173900 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
| Xanthinuria, Type I |
|
Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis |
OMIM:278300 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Acute pancreatitis, Ketonuria, Hyperammonemia, Weight loss, Hypsarrhythmia, EEG abnormality, 3-Me... |
ORPHA:20 |
| Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:617992 |
| Gitelman Syndrome |
|
Proteinuria, Urinary incontinence, Decreased urinary potassium, Hypomagnesemia, Hypermagnesemia, ... |
ORPHA:358 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Glomerulopathy, Renal insufficiency, Ketonuria, Hypomethioninemia, Hemoly... |
ORPHA:79282 |
| Megaloblastic Anemia, Folate-Responsive |
|
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... |
OMIM:601775 |
| Propionic Acidemia |
|
Organic aciduria, Hyperammonemia |
ORPHA:35 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Unilateral renal agenesis |
ORPHA:281090 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
| Brucellosis |
|
Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Infectious encephalit... |
ORPHA:1304 |
| Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Abnormality of iron h... |
ORPHA:848 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
EEG abnormality, Herpes simplex encephalitis, Lethargy |
OMIM:613002 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613501 |
| Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Decreased glomerular filtration rate |
OMIM:618182 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Recurrent skin infections, Urinary bladder inflammation, Hydronephrosis, Hema... |
ORPHA:79403 |
| Liddle Syndrome 1 |
|
Hypertension, Renal insufficiency, Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Microscopic hematuria, Hearing impairment |
ORPHA:86818 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating C-reactive protein concentration, Renal interstitial edema, Sterile pyuria, ... |
ORPHA:91500 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Sinusitis, Increased inflammatory res... |
ORPHA:183 |
| Cirrhosis, Familial |
|
Increased level of propylene glycol in blood, Fulminant hepatitis, Lethargy, Increased level of L... |
OMIM:215600 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypospadias, Small for gestational age, Sensorineural hearing impairment, Ur... |
OMIM:300661 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
| Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, H... |
ORPHA:411709 |
| Multiple Myeloma |
|
Hypercalcemia, Elevated circulating creatinine concentration, Abnormality of the bladder, Weight ... |
ORPHA:29073 |
| Biotinidase Deficiency |
|
Skin rash, Optic neuropathy, Sensorineural hearing impairment, Optic atrophy, Hyperammonemia, Org... |
ORPHA:79241 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Optic atrophy, Large earlobe, Macrotia |
ORPHA:2715 |
| Fabry Disease |
|
Conjunctival telangiectasia, Glomerulopathy, Renal insufficiency, Cataract, Proteinuria, Corneal ... |
ORPHA:324 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Anterior uveitis, Thrombocytopenia |
OMIM:616744 |
| Nephrolithiasis, Calcium Oxalate, 1 |
|
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... |
OMIM:167030 |
| Babesiosis |
|
Renal insufficiency, Depression |
ORPHA:108 |
| Isolated Complex I Deficiency |
|
Increased serum pyruvate, Optic disc pallor, Optic neuropathy, Sensorineural hearing impairment, ... |
ORPHA:2609 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Sensorineural hearing impairment |
ORPHA:3225 |
| Pgm3-Cdg |
|
Mild neurosensory hearing impairment, Membranoproliferative glomerulonephritis, Osteomyelitis, Ec... |
ORPHA:443811 |
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Sensorineural hearing impairment, Optic atrophy, Hyperammonemia, 3-Methylglutaconic aciduria, Hyp... |
OMIM:614739 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Sensorineural hearing impairment, Optic atrophy, Renal tubular dy... |
OMIM:220110 |
| Amme Complex |
|
Hematuria, Sensorineural hearing impairment, Astigmatism |
OMIM:300194 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Chronic k... |
ORPHA:79408 |
| Pendred Syndrome |
|
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... |
ORPHA:705 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Cardiomyopathy, Myoglobinuria, Elevated circulating creatine kinase concentration |
ORPHA:119 |
| Branchiootorenal Syndrome 1 |
|
Renal malrotation, Mixed hearing impairment, Unilateral renal agenesis, Dilatated internal audito... |
OMIM:113650 |
| Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Lethargy, Failure to thrive... |
OMIM:237300 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Acute hyperammonemia, Hyperglutaminemia, Hyperammonemia, Hyperalaninemia, Failure to thrive, Leth... |
ORPHA:927 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Highly elevated creatine kinase, Exercise-induced myoglobinuria |
ORPHA:352479 |
| Pheochromocytoma |
|
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... |
OMIM:171300 |
| Pseudo-Torch Syndrome 2 |
|
Lethargy, Abnormal renal corticomedullary differentiation |
OMIM:617397 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Hypoproteinemia |
OMIM:207731 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... |
ORPHA:93111 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Rhyns Syndrome |
|
Renal insufficiency, Sensorineural hearing impairment, Chronic kidney disease, Nephronophthisis, ... |
OMIM:602152 |
| Febrile Infection-Related Epilepsy Syndrome |
|
EEG abnormality, Sinusitis, Lethargy |
ORPHA:163703 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased proportion of CD4+C... |
OMIM:619846 |
| Nephronophthisis 19 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid... |
OMIM:616217 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Failure to thrive, Small for gestational age, Renal salt wasting, Increased urinary... |
ORPHA:89938 |
| Glanzmann Thrombasthenia |
|
Macroscopic hematuria |
ORPHA:849 |
| Primary Hyperoxaluria |
|
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... |
ORPHA:416 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Small for gestational age, Hypospadias, Abnormal pinna morphology, Sensorineural hearing impairme... |
OMIM:607143 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Low-set ears, Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst |
OMIM:617478 |
| Lymphangiectasia, Intestinal |
|
Lymphopenia, Neonatal hypoproteinemia |
OMIM:152800 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Hypospadias, Obesity, Nephropathy, Nephroblastoma |
OMIM:194072 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Hyperalaninemia, Small for gestational age, Lethargy |
OMIM:312170 |
| Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis, Obesity |
OMIM:616629 |
| Neuraminidase Deficiency |
|
Urinary excretion of sialylated oligosaccharides, Proteinuria, Cataract, Increased urinary O-link... |
OMIM:256550 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, Conjugated hyperbilirubinemia, 4-Hydroxyphenylp... |
OMIM:617156 |
| Gaba-Transaminase Deficiency |
|
EEG with burst suppression, Lethargy |
OMIM:613163 |
| Xfe Progeroid Syndrome |
|
Renal insufficiency, Proteinuria, Cachexia, Optic atrophy, Hypoalbuminemia, Failure to thrive, He... |
OMIM:610965 |
| Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Pericarditis, Myocarditis, Oliguria, Weight loss, Pancreatitis, Abnormal ren... |
ORPHA:188 |
| Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
| Usher Syndrome Type 1 |
|
Cataract, Sensorineural hearing impairment, Abnormal cochlea morphology, Vestibular hypofunction,... |
ORPHA:231169 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Abnormal pupil morphology, Oligosacchariduria, Nephrocalcinosis, Protruding ear, A... |
ORPHA:534 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Hematuria, Bilateral sensorineural hearing impairment |
ORPHA:853 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
| Glycogen Storage Disease Ixd |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria |
OMIM:300559 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Peritonitis, Elevated circulating creatinine concentration, Hemoglobinuria,... |
ORPHA:90038 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Hypomethioninemia, Optic atrophy, Hyperhomocystinemia, Cystathioninemia, Lethargy, Failure to thr... |
ORPHA:395 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
| Snakebite Envenomation |
|
Hyponatremia, Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock... |
ORPHA:449285 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei... |
ORPHA:247353 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
| Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Sinusitis, Elevated circulat... |
ORPHA:900 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
EEG abnormality, Lethargy |
ORPHA:71277 |
| Fabry Disease |
|
Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta... |
OMIM:301500 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
| Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Abnormal iris pigmentation, Thickene... |
ORPHA:2614 |
| Ruvalcaba Syndrome |
|
Hematuria, Cryptorchidism, Abnormal localization of kidney |
ORPHA:3121 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Hematuria, Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
| Argininosuccinic Aciduria |
|
Hyperglutaminemia, Hyperammonemia, EEG abnormality, Aminoaciduria, Oroticaciduria, Hypoargininemia |
ORPHA:23 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Renal agenesis, Thickened helices, Unilateral renal agenesis, Ectopic kidney... |
OMIM:617641 |
| Hemochromatosis, Type 2A |
|
Increased circulating ferritin concentration, Increased serum iron, Lethargy, Arthritis |
OMIM:602390 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid... |
OMIM:219730 |
| Severe Canavan Disease |
|
Lethargy, Optic atrophy |
ORPHA:314911 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Lethargy, Increased urinary glycerol |
OMIM:229700 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Recurrent skin infections, Decreased serum creatinine, Failure to thrive, Hypohomocysteinemia, Hy... |
OMIM:617744 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
| Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Chronic activ... |
OMIM:203800 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy |
OMIM:613710 |
| Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Portal hypertension, Chronic kidney disease, Renal a... |
ORPHA:84081 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kidney, Elevated circulating C-rea... |
ORPHA:54251 |
| Citrullinemia Type I |
|
Elevated plasma citrulline, Lethargy, Failure to thrive, Hyperammonemia |
ORPHA:247525 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hematuria, Hypoalbuminemia |
OMIM:617021 |
| Donnai-Barrow Syndrome |
|
Posteriorly rotated ears, Sensorineural hearing impairment, Proteinuria, Iris coloboma |
ORPHA:2143 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Large for gestational age, Decreased circulating free fatty acid level... |
ORPHA:324575 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Hemophagocytosis, Neutropenia, Iris hyp... |
ORPHA:79477 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Oroticaciduria, Hepatitis, Hyperammonemia, Hyperornithinemia, Lethargy, Failure to thrive, Abnorm... |
ORPHA:415 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Lethargy |
OMIM:246900 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Lethargy, Small for gestational age, Low-set ears |
OMIM:610498 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Lethargy |
OMIM:618224 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Renal insufficiency, Hypoplasia of penis, Sensorineural hearing impairment, Renal hypoplasia, Low... |
ORPHA:85321 |
| Osteootohepatoenteric Syndrome |
|
Proteinuria, Grade II vesicoureteral reflux, Weight loss, Hypokalemia, Increased serum bile acid ... |
OMIM:619377 |
| Hypouricemia, Renal, 2 |
|
Hypouricemia, Nephrolithiasis |
OMIM:612076 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228305 |
| Galloway-Mowat Syndrome |
|
Proteinuria, Nephrotic syndrome, EEG abnormality, Hypoplasia of the ear cartilage, Nephropathy, M... |
ORPHA:2065 |
| Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss |
|
Sensorineural hearing impairment |
OMIM:267300 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Renal insufficiency, Chronic kidney disease, Hyperammonemia, Hypoalbuminemia, Hyper... |
ORPHA:1667 |
| Giant Cell Arteritis |
|
Renal insufficiency, Pericarditis, Vertigo, Hematuria, Arthritis, Conductive hearing impairment, ... |
ORPHA:397 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Posteriorly rotated ears, Urinary incontinence, Conducti... |
OMIM:618885 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, R... |
OMIM:192315 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Optic disc pallor, Failure to thrive, Optic atrophy, Lethargy |
OMIM:618228 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly |
ORPHA:163596 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hyperalaninemia, Lethargy, Failure to thrive in infancy, Hyperprolinemia |
OMIM:619064 |
| Björnstad Syndrome |
|
Sensorineural hearing impairment |
ORPHA:123 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Lethargy, Abnormal... |
ORPHA:79230 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Increased serum pyruvate, Lethargy |
OMIM:618225 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
| Ddost-Cdg |
|
Failure to thrive, Nephrotic range proteinuria |
ORPHA:300536 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hypospadias, Small for gestational age, Conjugated hyperbilirubinemia, Sensorineural hearing impa... |
OMIM:614866 |
| Usher Syndrome, Type Ig |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:606943 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Decreased circulating free fatty acid level, Lethargy, Large for gestational age, Increased C-pep... |
ORPHA:276556 |
| Bardet-Biedl Syndrome 9 |
|
Truncal obesity, Renal insufficiency, Obesity |
OMIM:615986 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Lethargy, Failure to thrive, Ethylmalonic aciduria |
OMIM:201470 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Skin rash, Pustule, Myocarditis, Hepatitis, Thyroiditis, Weight loss, Tubulo... |
ORPHA:139402 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
| Klippel-Trénaunay Syndrome |
|
Hematuria |
ORPHA:90308 |
| Perrault Syndrome 2 |
|
Sensorineural hearing impairment |
OMIM:614926 |
| Renal Hypodysplasia/Aplasia 1 |
|
Hypertension, Bilateral renal agenesis, Proteinuria, Renal dysplasia |
OMIM:191830 |
| Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... |
ORPHA:411629 |
| Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Tubul... |
ORPHA:33001 |
| Gapo Syndrome |
|
Tubulointerstitial fibrosis |
OMIM:230740 |
| Renal Nutcracker Syndrome |
|
Hematuria, Microscopic hematuria, Proteinuria, Renal artery stenosis |
ORPHA:71273 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hyperammonemia |
ORPHA:664 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Failure to thrive, Membranoproliferative glomerulonephritis, Microscopic hematuria, Low-set ears,... |
OMIM:619525 |
| Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Chronic pancreatitis, Stage 5 chronic kidney disease, H... |
OMIM:613159 |
| Woolly Hair |
|
Abnormal pupil morphology, Cataract |
ORPHA:170 |
| Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
| Primary Sjögren Syndrome |
|
Renal insufficiency, Myositis, Chronic active hepatitis, Abnormality of the kidney, Glomeruloneph... |
ORPHA:289390 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Decreased circulating free fatty acid level, Lethargy, Large for gestational age, Increased C-pep... |
ORPHA:276575 |
| Malakoplakia |
|
Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Orchitis, Urinary bladder ... |
ORPHA:556 |
| Hemophilia B |
|
Hematuria |
ORPHA:98879 |
| Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:259900 |
| Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Nephropathy, Renal insufficiency, Hypocalcemia |
ORPHA:1563 |
| Variant Abeta2M Amyloidosis |
|
Chronic kidney disease, Renal amyloidosis, Abnormal autonomic nervous system physiology |
ORPHA:314652 |
| Immunoglobulin A Vasculitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Episcleritis, Proteinuria, Skin... |
ORPHA:761 |
| Acute Promyelocytic Leukemia |
|
Hematuria, Vertigo, Stomatitis |
ORPHA:520 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
EEG with burst suppression, Optic atrophy, Obesity, Hypsarrhythmia, Moderate albuminuria |
OMIM:614231 |
| Glycerol Kinase Deficiency |
|
Increased urinary glycerol, Small for gestational age, Hypertriglyceridemia, Hyperglycerolemia, C... |
OMIM:307030 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Lethargy, Failure to thrive |
OMIM:613561 |
| Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
| X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation |
ORPHA:54 |
| Wilson Disease |
|
Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Proteinuria, Hypouricemia, ... |
OMIM:277900 |
| Immunodeficiency 44 |
|
Lymphopenia |
OMIM:616636 |
| Woolly Hair Nevus |
|
Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
| Ethylene Glycol Poisoning |
|
Renal insufficiency, Gastritis, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dy... |
ORPHA:31826 |
| Urachal Cyst |
|
Dysuria, Elevated circulating C-reactive protein concentration, Pyuria, Urachus fistula, Peritoni... |
ORPHA:488 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Lethargy, Failure to thrive, Optic atrophy |
OMIM:618226 |
| Systemic Lupus Erythematosus 17 |
|
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
| Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Dys... |
ORPHA:95455 |
| Idiopathic Intracranial Hypertension |
|
Papilledema, Pulsatile tinnitus, Obesity, Depression, Lethargy |
ORPHA:238624 |
| Acute Intermittent Porphyria |
|
Dark urine, Hyponatremia, Renal insufficiency, Dysuria, Urinary incontinence, Porphyrinuria, Depr... |
ORPHA:79276 |
| Pontocerebellar Hypoplasia, Type 6 |
|
Lethargy, Failure to thrive |
OMIM:611523 |
| Humeroradial Synostosis |
|
Renal insufficiency, Small earlobe, Microtia |
OMIM:236400 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy |
OMIM:618683 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... |
OMIM:618986 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Cryptorchidism, Microtia, Multiple bladder diverticula, Recurrent otitis media, Abno... |
ORPHA:2728 |
| Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Oliguria, Lymphocytosis, Hypochromic anemia, Anemia |
ORPHA:514 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Lethargy, Large for gestational age, Increased C-peptide level |
ORPHA:276580 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Lethargy, Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal circu... |
OMIM:620306 |
| Spondyloenchondrodysplasia |
|
Proteinuria, Pneumonia, Skin rash, Chronic kidney disease, Hepatitis, Hematuria, Arthritis, Juven... |
ORPHA:1855 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Optic disc pallor, Elevated circulating acylcarnitine concentration, Abnormal circulating creatin... |
OMIM:615838 |
| Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia |
OMIM:600649 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Obesity, Nephronophthisis |
OMIM:615630 |
| Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst |
OMIM:613390 |
| Pearson Marrow-Pancreas Syndrome |
|
Small for gestational age, Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Com... |
OMIM:557000 |
| Stormorken Syndrome |
|
Hematuria, Elevated circulating creatine kinase concentration |
OMIM:185070 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Renal insufficiency, Hypoplasia of penis, Obesity, Depression, Apathy, Vesicoureteral reflux, Fai... |
ORPHA:96147 |
| Orotic Aciduria |
|
Hematuria, Oroticaciduria, Orotic acid crystalluria |
OMIM:258900 |
| Branchiootic Syndrome |
|
Facial palsy, Sensorineural hearing impairment, Abnormality of the inner ear, Atresia of the exte... |
ORPHA:52429 |
| Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure... |
ORPHA:3027 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Tachycardia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinas... |
ORPHA:94093 |
| Branchiogenic Deafness Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... |
ORPHA:50815 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Absent urinary urothione... |
OMIM:252150 |
| Proteus-Like Syndrome |
|
Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Limbal dermoid, Heterochro... |
ORPHA:2969 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Hematuria |
ORPHA:79 |
| Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Heterochromia iridis, Abnormality of the middle ear ossicles, Severe conductive... |
ORPHA:90646 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hypospadias, Abnormality of the kidney, Hyperammonemia, 3-Methylglutaconic aciduria, Low-set ears... |
ORPHA:1194 |
| Donnai-Barrow Syndrome |
|
Cataract, Posteriorly rotated ears, Proteinuria, Non-acidotic proximal tubulopathy, Sensorineural... |
OMIM:222448 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
| Lamellar Ichthyosis |
|
Chronic otitis media, Renal insufficiency, Abnormal helix morphology, Erythroderma |
ORPHA:313 |
| Transcobalamin Ii Deficiency |
|
Lethargy, Failure to thrive, Methylmalonic aciduria |
OMIM:275350 |
| Chronic Mucocutaneous Candidiasis |
|
Recurrent urinary tract infections, Skin rash, Cheilitis, Hepatitis, Hematuria |
ORPHA:1334 |
| Malignant Hyperthermia Of Anesthesia |
|
High-output congestive heart failure, Myoglobinuria, Hyperkalemia, Ventricular tachycardia, Prema... |
ORPHA:423 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Proteinuria, Macrotia, Renal cyst, Nephrotic syndrome, Proximal tubulopathy, Hypoal... |
OMIM:212065 |
| Wagro Syndrome |
|
Cataract, Proteinuria, Corneal opacity, Low-set ears, Aniridia, Nephroblastoma, Decreased testicu... |
OMIM:612469 |
| Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno... |
ORPHA:158061 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst |
ORPHA:445038 |
| Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Abnormality of the urinary system, Anuria |
OMIM:267430 |
| Porphyria Variegata |
|
Hyponatremia, Neurogenic bladder, Abnormal circulating porphyrin concentration, Chronic kidney di... |
ORPHA:79473 |
| Acute Adrenal Insufficiency |
|
Hyponatremia, Renal insufficiency, Orthostatic hypotension, Hypercalcemia, Decreased urinary pota... |
ORPHA:95409 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria |
OMIM:602199 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Recurrent urinary tract infections, Splenomegaly, Leukopenia, Lymphopenia |
OMIM:620210 |
| Alexander Disease |
|
Microcoria |
OMIM:203450 |
| Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Congestive heart failure, Myocarditis, Hypovolemia, Oliguria, ... |
ORPHA:31824 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Conjugated hyperbilirubinemia, Chronic kidney disease, Renal cy... |
OMIM:208500 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Stage 1 chronic kidney disease, Obesity |
OMIM:618821 |
| Ohdo Syndrome |
|
Microtia, Proteinuria, Hearing impairment |
OMIM:249620 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Increased serum bile acid concentration, Hyperbilirubinemia, Mild proteinuria |
OMIM:619685 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Myoglobinuria, Dicarboxylic aciduria, Hypertrophic cardiomyopathy |
OMIM:231530 |
| Severe Acute Respiratory Syndrome |
|
Acute infectious pneumonia, Acute kidney injury |
ORPHA:140896 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Ketonuria, Elevated circulating creatine kinase concentration, Optic atrophy, Highly elevated cre... |
OMIM:251900 |
| Yellow Fever |
|
Abnormal bleeding, Shock, Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating c... |
ORPHA:99829 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
| 17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureterocele, Hearing... |
ORPHA:261265 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe... |
OMIM:221900 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Lethargy, Increased body weight |
ORPHA:276608 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypophosphate... |
OMIM:619743 |
| Zttk Syndrome |
|
Polyuria, Unilateral renal agenesis, Optic atrophy, Horseshoe kidney, Protruding ear, Low-set ear... |
OMIM:617140 |
| Agel Amyloidosis |
|
Proteinuria, Facial palsy, Stage 5 chronic kidney disease, Depression, Keratoconjunctivitis sicca... |
ORPHA:85448 |
| Lymphedema-Hypoparathyroidism Syndrome |
|
Nephropathy, Renal insufficiency |
OMIM:247410 |
| Autoerythrocyte Sensitization Syndrome |
|
Hematuria, Vertigo, Superficial dermal perivascular inflammatory infiltrate |
ORPHA:324636 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Enamel-Renal Syndrome |
|
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... |
ORPHA:1031 |
| Castleman Disease |
|
Hematuria, Renal insufficiency, Ureteral obstruction, Elevated circulating C-reactive protein con... |
ORPHA:160 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Focal segmental glomerulosclerosis, Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c |
OMIM:619127 |
| H Syndrome |
|
Hypertriglyceridemia, Abnormality of the kidney, Microcytic anemia, Hepatosplenomegaly, Corneal a... |
ORPHA:168569 |
| Congenital Factor V Deficiency |
|
Hematuria |
ORPHA:326 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Recurrent urinary tract infections, Fetal pyelectasis, Megacystis, Nephrolithiasis, Mydriasis |
OMIM:619365 |
| Boutonneuse Fever |
|
Renal insufficiency, Skin rash, Maculopapular exanthema, Vasculitis, Petechiae |
ORPHA:83313 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Inflammatory abnormality of the skin, Small for gestational age, Elevated circulating creatine ki... |
ORPHA:26793 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Renal insufficiency, Low-set ears |
ORPHA:2165 |
| Gaucher Disease Type 1 |
|
Hematuria, Osteoarthritis, Proteinuria |
ORPHA:77259 |
| Short Syndrome |
|
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... |
ORPHA:3163 |
| Idiopathic Congenital Hypothyroidism |
|
Lethargy, Neonatal hyperbilirubinemia |
ORPHA:95717 |
| Lead Poisoning |
|
Decreased HDL cholesterol concentration, Small for gestational age, Skin rash, Chronic kidney dis... |
ORPHA:330015 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Hypospadias, Elevated amniotic fluid alpha-fetoprotein, Chordee, Renal dyspl... |
ORPHA:96179 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Sensorineural hearing impairment, Optic atrophy, Stage 5 chronic kidney diseas... |
OMIM:268315 |
| Autoimmune Lymphoproliferative Syndrome |
|
Renal insufficiency, Gastritis, Glomerulonephritis, Hepatitis, Uveitis, Thyroiditis, Arthritis, C... |
ORPHA:3261 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Bipolar affective disorder, Facial palsy, Elevated circulating creatine kinase concentration, Dep... |
ORPHA:254892 |
| Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia |
OMIM:620374 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Hyperalaninemia, Failure to thrive, Stage 5 chronic kidney disease, Lacticaciduria |
OMIM:618250 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal insufficiency, Psoriasiform dermatitis, Unilateral renal agenesis, Hydronephrosis, Hypocalc... |
ORPHA:2237 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Small for gestational age, Conjugated hyperbilirubinemia, Sensorine... |
OMIM:617093 |
| Joubert Syndrome 3 |
|
Low-set ears, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:608629 |
| Familial Mediterranean Fever |
|
Pericarditis, Proteinuria, Skin rash, Myocardial infarction, Orchitis, Osteoarthritis, Vasculitis... |
ORPHA:342 |
| Hereditary Central Diabetes Insipidus |
|
Lethargy, Weight loss |
ORPHA:30925 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Decreased body weight, Proteinuria, Abnormality of body... |
ORPHA:2298 |
| Hellp Syndrome |
|
Proteinuria, Cerebral hemorrhage, Hemoglobinuria, Prolonged prothrombin time, Hypotension, Acute ... |
ORPHA:244242 |
| Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Renal insufficiency, Epistaxis, Hematochezia, Cardiomyopathy, Inflammati... |
OMIM:203300 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Hypertriglyceridemia, Small for gestational age, Polyuria, Recurrent pan... |
OMIM:606721 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloprolife... |
ORPHA:3226 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Lethargy, Optic atrophy |
OMIM:603896 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Lethargy, Hyperphenylalaninemia |
OMIM:233910 |
| Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
| Familial Dysautonomia |
|
Hyponatremia, Glomerulopathy, Renal insufficiency, Corneal opacity, Abnormality of the kidney, Ab... |
ORPHA:1764 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Hyperammonemia, Hyperargininemia, Argininosuccinic aciduria, Elevated plasm... |
OMIM:603471 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, Lymphopenia, B lymphocytopenia |
ORPHA:277 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Paroxysmal Cold Hemoglobinuria |
|
Abnormal urinary color, Hemoglobinuria |
ORPHA:90035 |
| Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... |
ORPHA:263479 |
| Moderate Hemophilia A |
|
Hematuria, Synovitis |
ORPHA:169805 |
| Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Uveitis, Hypoalbuminemia, Internal hemorrhage... |
ORPHA:99826 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Bradykinesia, Lethargy |
ORPHA:101150 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Anemia, Leukopenia, Nephroti... |
ORPHA:505248 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Optic disc pallor, Hypospadias, Optic neuropathy, Sensorineural h... |
OMIM:252010 |
| Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:143 |
| Lesch-Nyhan Syndrome |
|
Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Hyperuricemia, Podagra |
OMIM:300322 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Elevated circulating creatine kinase concentration, Cardiac arrest, Elevated circulati... |
OMIM:616878 |
| Crigler-Najjar Syndrome |
|
Lethargy, Infectious encephalitis, Hearing impairment |
ORPHA:205 |
| Congenital Factor Ii Deficiency |
|
Microscopic hematuria |
ORPHA:325 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Hypospadias, Failure to thrive in infancy, Posteriorly rotated ears, Hemolyt... |
OMIM:611209 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T cell morpholog... |
ORPHA:760 |
| Infantile Liver Failure Syndrome 2 |
|
Lethargy, Hyperammonemia |
OMIM:616483 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Hepatomegaly, Cystic renal dysplasia, Enlarged kidney |
OMIM:615415 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia, Anisopoikilo... |
ORPHA:35858 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Failure to thrive, Hypoalbuminemia, Low-set ears |
OMIM:608104 |
| Martin-Probst Syndrome |
|
Renal insufficiency, Proteinuria, Sensorineural hearing impairment, Chordee, Low-set ears, Microp... |
OMIM:300519 |
| Bardet-Biedl Syndrome 20 |
|
Papilledema, Proteinuria, Obesity, Hypercholesterolemia, Micropenis, Pancreatitis |
OMIM:619471 |
| Encephalitis Lethargica |
|
Lethargy, Urinary incontinence |
ORPHA:83600 |
| Phacoanaphylactic Uveitis |
|
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo... |
ORPHA:209959 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
| Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
| Familial Thyroid Dyshormonogenesis |
|
Lethargy, Sensorineural hearing impairment, Abnormal circulating thyroglobulin level, Neonatal hy... |
ORPHA:95716 |
| Alagille Syndrome |
|
Keratoconus, Hepatomegaly, Corneal dystrophy, Renal hypoplasia/aplasia, Abnormal pupil morphology... |
ORPHA:52 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Abnormal left ventricular function, Dilated cardiomyopathy, Elevated circulating creatine kinase ... |
OMIM:607155 |
| Pseudo-Torch Syndrome 1 |
|
Renal insufficiency, Failure to thrive, Low-set ears |
OMIM:251290 |
| Alkaptonuria |
|
Arthritis, Elevated urinary homogentisic acid, Nephrolithiasis, Decreased glomerular filtration rate |
OMIM:203500 |
| Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Lethargy, Sensorineural hearing impairment, Optic atrophy |
ORPHA:49827 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... |
ORPHA:331206 |
| Rift Valley Fever |
|
Skin rash, Vertigo, Hepatitis, Uveitis, Hematuria, Infectious encephalitis |
ORPHA:319251 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
| Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Oliguria, Arthritis, P... |
ORPHA:220393 |
| Calciphylaxis |
|
Hyperphosphatemia, Stage 5 chronic kidney disease |
ORPHA:280062 |
| Acquired Generalized Lipodystrophy |
|
Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Abnormal cardiovascular system physiology,... |
ORPHA:79086 |
| Immunodeficiency 92 |
|
Hepatomegaly, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytope... |
OMIM:619652 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Increased urine deoxypyridinoline level, Hydroxyprolinemia, Sensorineural hearing impairment, Hyp... |
OMIM:239000 |
| Mercury Poisoning |
|
Tachycardia, Hypertension, Hypokalemia, Interstitial pneumonitis, Hypotension, Acute kidney injury |
ORPHA:330021 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hypouricemia, Increased circulat... |
OMIM:613179 |
| Distal Deletion 10Q |
|
Abnormal morphology of the vestibule of the inner ear, Congenital sensorineural hearing impairmen... |
ORPHA:96148 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic... |
OMIM:259720 |
| Hereditary Hemorrhagic Telangiectasia |
|
Hematuria, Conjunctival telangiectasia, Nephrolithiasis, Cholecystitis |
ORPHA:774 |
| Cyclic Vomiting Syndrome |
|
Lethargy, Hearing impairment |
OMIM:500007 |
| Lujo Hemorrhagic Fever |
|
Renal insufficiency, Maculopapular exanthema, Skin rash, Elevated circulating C-reactive protein ... |
ORPHA:319213 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Scrotal hypospadias, Micropenis, Methemoglobinemia, Hypospadias |
OMIM:250790 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Obesity, Abdominal obesity, Lethargy, Micropenis, Failure to thrive |
ORPHA:398079 |
| Joubert Syndrome 9 |
|
Stage 5 chronic kidney disease |
OMIM:612285 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:619260 |
| Sepsis In Premature Infants |
|
Small for gestational age, Elevated circulating C-reactive protein concentration, Oliguria, Enter... |
ORPHA:90051 |
| Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
| Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia, Hypercalciuria |
OMIM:242050 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Myoglobinuria, Facial palsy, Elevated circulating creatine kinase concentration |
ORPHA:206549 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cells, Decreased... |
OMIM:616005 |
| Leukocyte Adhesion Deficiency |
|
Recurrent urinary tract infections, Sinusitis, Severe periodontitis, Glomerulonephritis, Pneumoni... |
ORPHA:2968 |
| Joubert Syndrome 2 |
|
Renal insufficiency, Optic disc coloboma, Renal cyst, Nephronophthisis, Low-set ears, Failure to ... |
OMIM:608091 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co... |
ORPHA:158048 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Hepatosplenomegaly, Chorioretinitis, Panuveitis, B lymphocytopenia, Neutropenia |
OMIM:301081 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Lethargy, Optic atrophy, Hyperglycinemia |
OMIM:614299 |
| Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Thickened helices, Chronic otitis media, O... |
ORPHA:261494 |
| Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Conductive hearing impairment, S... |
ORPHA:391641 |
| Refsum Disease |
|
Renal insufficiency, Sensorineural hearing impairment |
ORPHA:773 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Failure to thrive, Hyperglutamatemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hyp... |
OMIM:620358 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
| Immunodeficiency 85 And Autoimmunity |
|
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... |
OMIM:619510 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Cataract, Chronic neutrop... |
ORPHA:500095 |
| Kaposiform Lymphangiomatosis |
|
Splenomegaly, Hepatosplenomegaly, Anemia, Abnormal spleen morphology, Multiple renal cysts, Enlar... |
ORPHA:464329 |
| Sifrim-Hitz-Weiss Syndrome |
|
Renal insufficiency, Cupped ear, Low-set ears, Vesicoureteral reflux, Micropenis, Hearing impairment |
OMIM:617159 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:99880 |
| Q Fever |
|
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Myocarditis, Hepatitis, Endocard... |
ORPHA:781 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Increased urinary gl... |
ORPHA:247598 |
| Hec Syndrome |
|
Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
| Central Neurocytoma |
|
Lethargy, Tinnitus, Depression |
ORPHA:73256 |
| Noonan Syndrome 12 |
|
Lymphopenia, Thrombocytopenia |
OMIM:618624 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Orthostatic hypotension, Hypercalcemia, Hyperkalemia, Hepatitis, Weight loss, Hyper... |
ORPHA:199299 |
| Lassa Fever |
|
Conjunctivitis, Oliguria, Hearing impairment |
ORPHA:99824 |
| Joubert Syndrome With Oculorenal Defect |
|
Low-set, posteriorly rotated ears, Nephropathy, Renal insufficiency, Aganglionic megacolon |
ORPHA:2318 |
| Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neu... |
OMIM:301078 |
| Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
| Uveal Melanoma |
|
Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis |
ORPHA:39044 |
| Susac Syndrome |
|
Lethargy, Sensorineural hearing impairment, Apathy, Tinnitus |
ORPHA:838 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
| Unilateral Ocular Duplication |
|
Microcornea, Abnormal pupil morphology, Iris coloboma |
ORPHA:3374 |
| Severe Hemophilia A |
|
Synovitis, Macroscopic hematuria |
ORPHA:169802 |
| Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
OMIM:614204 |
| Isolated Sedoheptulokinase Deficiency |
|
Renal insufficiency, Hepatitis, Portal hypertension, Abnormal renal tubule morphology |
ORPHA:440713 |
| Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:612300 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:255125 |
| Joubert Syndrome With Renal Defect |
|
Low-set, posteriorly rotated ears, Nephropathy, Renal insufficiency, Aganglionic megacolon |
ORPHA:220497 |
| Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease |
OMIM:613819 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Xanthinuria, Increased u... |
OMIM:252160 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis |
ORPHA:86843 |
| Shigellosis |
|
Hyponatremia, Failure to thrive in infancy, Pneumonia, Hemolytic-uremic syndrome, Myocarditis, Pe... |
ORPHA:810 |
| Sickle Cell Disease |
|
Hematuria, Renal insufficiency |
OMIM:603903 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology |
ORPHA:2151 |
| Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
| Pyomyositis |
|
Recurrent cutaneous abscess formation, Renal insufficiency, Myositis, Weight loss |
ORPHA:764 |
| Benign Samaritan Congenital Myopathy |
|
Lethargy |
ORPHA:324581 |
| Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased body weight, ... |
ORPHA:264580 |
| Porphyria Cutanea Tarda |
|
Decreased circulating hepcidin concentration, Recurrent bacterial skin infections, Viral hepatiti... |
ORPHA:101330 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... |
ORPHA:99827 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Low-set, posteriorly rotated ears, Renal insufficiency, Hypospadias, Overfolded helix, Renal cort... |
ORPHA:397715 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Weight loss, Arthr... |
ORPHA:465508 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased body weight, ... |
ORPHA:79240 |
| Hand-Foot-Genital Syndrome |
|
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure... |
OMIM:140000 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Pneumonia, Myocarditis, Pancreatitis, Hyperkalemia, Oliguria, Hypocalcemia,... |
ORPHA:544482 |
| Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma |
ORPHA:538 |
| Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... |
ORPHA:466650 |
| Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Pneumonia, Ectopic kidney, Abnormal incisura morphology, Conductive hea... |
OMIM:122470 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Narrow internal auditory canal, Synotia |
ORPHA:990 |
| Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Abnormal circulating calcium concentration, Bronchiectasis, Hematuria, I... |
ORPHA:60025 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hemoglobinuria, Hepatitis, Increased circulating ferritin concentration |
OMIM:194380 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Optic nerve hypoplasia, Optic atrophy, Renal hypoplasia, Abdominal obesity, Azotemia, Micropenis |
OMIM:619321 |
| Gaucher Disease |
|
Osteomyelitis, Proteinuria, Corneal opacity, Elevated circulating C-reactive protein concentratio... |
ORPHA:355 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Failure to thrive, Ketonuria, Hyperammonemia |
OMIM:615453 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
| Molybdenum Cofactor Deficiency, Complementation Group C |
|
Increased urinary taurine, Hypocystinemia, Hypouricemia, Hypertaurinemia |
OMIM:615501 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Hemoglobinuria, Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbil... |
OMIM:300908 |
| Adult-Onset Still Disease |
|
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, ... |
ORPHA:829 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
| Duane Retraction Syndrome |
|
Central heterochromia, Ectopic kidney, Abnormal pupil morphology, Microcornea, Hypoplastic iris s... |
ORPHA:233 |
| Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
| Acquired Von Willebrand Syndrome |
|
Hematuria |
ORPHA:99147 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:88 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Lymphopenia, Abnormally low T cell receptor excision circle level |
OMIM:619767 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Asplenia, Splenomegaly, Ureteral atresia, Stage 5 chronic kidn... |
OMIM:208540 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Rieger anomaly, Hypospadias, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, An... |
OMIM:180500 |
| Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
| Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration |
ORPHA:1302 |
| 7Q31 Microdeletion Syndrome |
|
Hypoplasia of the cochlea, Enuresis nocturna, Hypoplasia of the semicircular canal, Galactosuria,... |
ORPHA:251061 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Persistence of hemoglobin F, Anemia, Nephroca... |
OMIM:260400 |
| Bernard-Soulier Syndrome |
|
Partially duplicated kidney, Macroscopic hematuria |
ORPHA:274 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative... |
OMIM:618935 |
| Ogden Syndrome |
|
Global glomerulosclerosis, Eczema, Protruding ear, Hyperbilirubinemia, Polycystic kidney dysplasi... |
OMIM:300855 |
| Histiocytoid Cardiomyopathy |
|
Lethargy, Failure to thrive, Optic atrophy, Renal cyst |
ORPHA:137675 |
| Trisomy 10P |
|
Small for gestational age, Abnormality of the kidney, Abnormal auditory evoked potentials, Poster... |
ORPHA:171929 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Increased body weight, Abdominal obesity, Lethargy, Micropenis, Failure to thrive |
ORPHA:398069 |
| Classic Galactosemia |
|
Lethargy, Depression |
ORPHA:79239 |
| Pearson Syndrome |
|
Renal insufficiency, Proteinuria, Small for gestational age, Hypomagnesemia, Lacticaciduria, Rena... |
ORPHA:699 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... |
OMIM:602482 |
| Facial Spasm |
|
Anisocoria |
OMIM:134300 |
| Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney |
OMIM:608022 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Increased serum pyruvate, Lethargy |
OMIM:604377 |
| Coach Syndrome 1 |
|
Optic disc pallor, Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chron... |
OMIM:216360 |
| Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva... |
OMIM:309000 |
| Lysinuric Protein Intolerance |
|
Failure to thrive, Hypolysinemia, Increased circulating ferritin concentration, Stage 5 chronic k... |
OMIM:222700 |
| Revesz Syndrome |
|
Megalocornea, Aplastic anemia, Leukocoria |
OMIM:268130 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Hypospadias, Renal agenesis, Pure red cell aplasia, Erythroid hypoplasia,... |
ORPHA:124 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Renal insufficiency, Renal agenesis, Ectopic kidney, Horseshoe kidney, Vesicoureteral reflux, Lop... |
ORPHA:140952 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Recurrent urinary tract infections, Orthostatic hypotension, Abnormal auditory evoked potentials,... |
ORPHA:99027 |
| Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
| Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, EEG abnormality, Urinary incontinence |
ORPHA:206448 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Elevated circulating C-... |
OMIM:617099 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly |
ORPHA:169160 |
| Hyperlysinemia |
|
Failure to thrive, EEG with spike-wave complexes, Argininuria, Recurrent pneumonia, Hyperammonemi... |
ORPHA:2203 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Peritonitis, Sensorineural hearing impairment, Megacystis, Pyelonephritis, Fetal megacyst... |
OMIM:619351 |
| Joubert Syndrome With Hepatic Defect |
|
Multicystic kidney dysplasia, Renal insufficiency, Optic disc coloboma, Low-set ears, Nephropathy |
ORPHA:1454 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia |
OMIM:619752 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Hyperammonemia, Decrease... |
ORPHA:99901 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Congenital Factor X Deficiency |
|
Hematuria |
ORPHA:328 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Recurrent urinary tract infections, Renal insufficiency, Cholangitis, Recurrent pne... |
ORPHA:731 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Hypocalcemic tetany, S... |
ORPHA:289176 |
| Typhoid |
|
Skin rash, Lethargy, Infectious encephalitis |
ORPHA:99745 |
| Cockayne Syndrome |
|
High-frequency sensorineural hearing impairment, Optic disc pallor, Neurogenic bladder, Renal ins... |
ORPHA:191 |
| Joubert Syndrome 6 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:610688 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Osteomyelitis, Hypospadias, Juvenile cataract, Cataract, Cupped ear, Protruding ear, Hematuria, B... |
OMIM:619475 |
| Developmental And Epileptic Encephalopathy 50 |
|
Renal tubular acidosis, Failure to thrive, Oroticaciduria, Hyperammonemia |
OMIM:616457 |
| Dengue Fever |
|
Skin rash, Lethargy, Hypoproteinemia |
ORPHA:99828 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally lo... |
OMIM:602450 |
| Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine, Abnormal cardiovascular system physiology, Arterial occlusion |
ORPHA:289601 |
| Acute Generalized Exanthematous Pustulosis |
|
Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Conjunctivitis, Neutropenia |
ORPHA:293173 |
| Trisomy 9P |
|
Abnormal pupil morphology |
ORPHA:236 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Optic nerve hypoplasia, Urinary incontinence, Decreased nerv... |
ORPHA:101085 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
T lymphocytopenia, Ectopia pupillae, Abnormal B cell morphology, Aplasia of the thymus |
OMIM:618223 |
| Erdheim-Chester Disease |
|
Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Weight loss, Hydronephrosis |
ORPHA:35687 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Lymphopenia, Neutropenia |
OMIM:614868 |
| Cockayne Syndrome B |
|
Renal insufficiency, Proteinuria, Small for gestational age, Abnormal auditory evoked potentials,... |
OMIM:133540 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Lethargy, Peritonitis, Small for gestational age |
ORPHA:391673 |
| Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased proportion of CD3-posit... |
ORPHA:90362 |
| Beta-Ketothiolase Deficiency |
|
Ketonuria, Hyperammonemia, Weight loss, Apathy, Hyperuricemia |
ORPHA:134 |
| Staphylococcal Necrotizing Pneumonia |
|
Acute infectious pneumonia, Lethargy, Pneumonia, Elevated circulating C-reactive protein concentr... |
ORPHA:36238 |
| Gaucher Disease Type 3 |
|
Hematuria, Proteinuria |
ORPHA:77261 |
| Glycogen Storage Disease Xii |
|
Elevated circulating creatine kinase concentration, Hemoglobinuria, Cholecystitis, Hyperbilirubin... |
OMIM:611881 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Hypospadias, Microcytic anemia |
ORPHA:98791 |
| Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia |
OMIM:607676 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Overweight, Obesity, Gout, Nephrocalcinosis, Hypernatriuria, Hyperproteinem... |
ORPHA:90041 |
| Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Renal insufficiency, Epistaxis, Congestive heart failure, Vasculitis... |
ORPHA:33226 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
| Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
| Acute Interstitial Pneumonia |
|
Hypertension, Elevated circulating creatinine concentration, Bronchiectasis, Elevated circulating... |
ORPHA:79126 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Enlarged kidney, Cystic renal dysplasia, Polysplenia |
OMIM:200995 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Anemia, Conjunctivitis, Lymphopenia, Thrombocyt... |
OMIM:617591 |
| Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... |
ORPHA:2686 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Persistent pupillary m... |
OMIM:613150 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Thrombocytopenia, Lymphopenia, Anemia |
OMIM:620365 |
| Trichothiodystrophy 3, Photosensitive |
|
Cataract, Developmental cataract, Lymphopenia, Neutropenia |
OMIM:616395 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Abnormally low T cell receptor ... |
ORPHA:276 |
| Stevens-Johnson Syndrome |
|
Renal insufficiency, Dysuria, Abnormality of the urethra, Weight loss, Conjunctivitis, Pancreatitis |
ORPHA:36426 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Overweight, Lethargy, Abnormal circulating thyroglobulin level, Depression |
ORPHA:99832 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
| Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria, Enuresis |
ORPHA:289483 |
| Exstrophy-Epispadias Complex |
|
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias... |
ORPHA:322 |
| Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
| Acute Radiation Syndrome |
|
Lymphopenia, Granulocytopenia, Thrombocytopenia, Cataract |
ORPHA:454831 |
| Cranioectodermal Dysplasia 4 |
|
Recurrent pneumonia, Stage 5 chronic kidney disease, Protruding ear |
OMIM:614378 |
| Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
| Pure Mitochondrial Myopathy |
|
Recurrent myoglobinuria |
ORPHA:254854 |
| Familial Mediterranean Fever |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Peritonitis, Stage... |
OMIM:249100 |
| Thyroid Dyshormonogenesis 1 |
|
Lethargy |
OMIM:274400 |
| Multifocal Atrial Tachycardia |
|
Lethargy |
ORPHA:3282 |
| Pyruvate Dehydrogenase Deficiency |
|
Lethargy |
ORPHA:765 |
| Insulinoma |
|
Lethargy, Increased body weight |
ORPHA:97279 |
| Toxic Epidermal Necrolysis |
|
Renal insufficiency, Dysuria, Abnormality of the urethra, Weight loss, Conjunctivitis, Pancreatitis |
ORPHA:537 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphopenia |
OMIM:616100 |
| Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Cataract |
OMIM:619649 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Cataract, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lympho... |
ORPHA:508542 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
| Behçet Disease |
|
Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Glomerulopathy, Acn... |
ORPHA:117 |
| Cockayne Syndrome A |
|
Renal insufficiency, Proteinuria, Abnormal pinna morphology, Abnormal auditory evoked potentials,... |
OMIM:216400 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
| Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia, Cranial nerve compression, Hypercalciuria, Nephrolithiasis, Weight loss, Depressio... |
ORPHA:652 |
| Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Abnormal c... |
ORPHA:1435 |
| Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Lethargy, Decreased serum zinc, Failure to thrive |
OMIM:201100 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
| Cockayne Syndrome Type 3 |
|
Optic disc pallor, Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesi... |
ORPHA:90324 |
| Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Peters anomaly, Renal hypoplasia, Corneal scarring, Renal cyst, Buphthalmos... |
OMIM:618460 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Corneal opacity, Elevated circulating creatine kinase concentration, Polycoria,... |
OMIM:175780 |
| Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Stage 5 chronic kid... |
OMIM:267010 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Cardiom... |
ORPHA:116 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
| Aymé-Gripp Syndrome |
|
Pericarditis, Cataract, Posteriorly rotated ears, Proteinuria, Cryptorchidism, Sensorineural hear... |
ORPHA:1272 |
| Joubert Syndrome 5 |
|
Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr... |
OMIM:610188 |
| Arteriosclerosis, Severe Juvenile |
|
Hypertension, Chronic kidney disease, Myocardial infarction |
OMIM:208060 |
| Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Posteriorly rotated ears, Underdeveloped antitragus, Unilateral renal agenes... |
OMIM:181270 |
| Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Unilateral renal agenesis, Splenic cyst |
OMIM:618188 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Perianal abscess, Iron deficiency anemia, ... |
OMIM:301074 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Mucopolysaccharidu... |
OMIM:252500 |
| Argininemia |
|
Diaminoaciduria, Oroticaciduria, Hyperargininemia, Hyperammonemia |
OMIM:207800 |
| Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hyperkalemia, Anemia, Leukopenia, ... |
OMIM:617053 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Lymphopenia, Cataract, Unilateral renal agenesis, Ectopic kidney, Renal hypoplasia, Micropenis, A... |
OMIM:616541 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Depression, Abnormal circulating thyroglobulin level, Hypercholesterolemia, Failure to thrive, Ne... |
ORPHA:90674 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Lethargy, Failure to thrive in infancy, Hypocalcemia |
ORPHA:746 |
| Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration, Splen... |
OMIM:612852 |
| Eisenmenger Syndrome |
|
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Bacterial endocar... |
ORPHA:97214 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
| Coats Disease |
|
Leukocoria |
OMIM:300216 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Hypospadias, Sclerocornea, Microcornea, Ectopia pupillae |
OMIM:615877 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Recurrent urinary tract infections, Intermittent thrombocytopenia, Perianal abscess... |
OMIM:612541 |
| Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... |
ORPHA:805 |
| Hardikar Syndrome |
|
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... |
OMIM:301068 |
| Kawasaki Disease |
|
Pericarditis, Proteinuria, Skin rash, Congestive heart failure, Myocarditis, Vasculitis, Hepatiti... |
ORPHA:2331 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Renal insufficiency |
OMIM:226980 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Lymphopenia, Neutropenia |
OMIM:617827 |
| Kufor-Rakeb Syndrome |
|
Bradykinesia, Lethargy, Apathy, Urinary incontinence |
ORPHA:306674 |
| Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Chronic otitis media, Hydronephro... |
ORPHA:2750 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Chronic kidney disease, Subdural hemorrhage, Retinal hemorrhage |
ORPHA:25 |
| Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
| Diffuse Cutaneous Mastocytosis |
|
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis, Hepatomegaly |
ORPHA:79456 |
| Ogden Syndrome |
|
Lethargy, Macrotia, Low-set ears |
ORPHA:276432 |
| Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... |
ORPHA:67043 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Astigmatism |
OMIM:619769 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Abnormal circulating phytanic acid concentration, Mydriasis |
ORPHA:247815 |
| Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Ketonuria, Increased circulating NT-proBNP concentration, Acute... |
ORPHA:466677 |
| Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Nephritis, Infectious encephalitis, He... |
ORPHA:73263 |
| Evans Syndrome |
|
Lethargy |
ORPHA:1959 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Renal insufficiency, Failure to thrive, Conjugated hyperbilirubinemia, Increased circ... |
OMIM:619534 |
| Knobloch Syndrome 1 |
|
Duplicated collecting system, Renal duplication, Band keratopathy, Chorioretinal atrophy, Develop... |
OMIM:267750 |
| Serotonin Syndrome |
|
Abnormality of the autonomic nervous system, Acute kidney injury |
ORPHA:43116 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Thrombocytosis, Lymphopenia, A... |
OMIM:615934 |
| Holoprosencephaly |
|
Hyponatremia, Hypoplasia of penis, Proteinuria, Failure to thrive in infancy, External ear malfor... |
ORPHA:2162 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Microcornea, Cataract, Persistent pupillary membrane |
OMIM:257850 |
| Aneurysm Of Sinus Of Valsalva |
|
Oliguria, Bacterial endocarditis |
ORPHA:1054 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Lethargy, Skin rash, Bilateral sensorineural hearing impairment, Hypsarrhythmia |
OMIM:618321 |
| Iatrogenic Botulism |
|
Urinary retention, Mydriasis |
ORPHA:254509 |
| Primary Sclerosing Cholangitis |
|
Renal insufficiency, Hepatitis, Uveitis, Weight loss, Ulcerative colitis, Thyroiditis, Depression... |
ORPHA:171 |
| Chronic Graft Versus Host Disease |
|
Fasciitis, Phimosis, Urinary bladder inflammation, Bronchiectasis, Hematuria, Arthritis, Keratoco... |
ORPHA:99921 |
| Gorham-Stout Disease |
|
Osteomyelitis, Abnormality of the internal auditory canal, Hearing impairment |
ORPHA:73 |
| Wound Botulism |
|
Urinary retention, Mydriasis |
ORPHA:178475 |
| Retinoblastoma |
|
Leukemia, Leukocoria |
OMIM:180200 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Absent natural kil... |
OMIM:600802 |
| Infantile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... |
ORPHA:206436 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Keratoconjunctivitis sicca, Enlarged kidney |
ORPHA:79128 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Ectopia pupillae, Astigmatism, Cataract |
OMIM:618727 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Lethargy |
OMIM:618232 |
| Charcot-Marie-Tooth Disease Type 1E |
|
Anisocoria, Abnormal pupil morphology |
ORPHA:90658 |
| Inhalational Botulism |
|
Urinary retention, Mydriasis |
ORPHA:254504 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ectopia pupillae, Hypotriglyceridemia, Corneal opacity, Lens subluxation |
ORPHA:85167 |
| Amoebiasis Due To Free-Living Amoebae |
|
Sinusitis, Pneumonia, Facial palsy, Pustule, Intrarenal abscess, Lethargy, Infectious encephalitis |
ORPHA:68 |
| Alström Syndrome |
|
Urinary incontinence, Functional abnormality of the bladder, Otitis media, Severe sensorineural h... |
ORPHA:64 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Stage 5 chronic kidney disease |
OMIM:608612 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk... |
ORPHA:3243 |
| Miller Fisher Syndrome |
|
Anisocoria, Mydriasis |
ORPHA:98919 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Hermansky-Pudlak Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Renal insufficiency, Epistaxis, Cardiomyopathy, B... |
ORPHA:79430 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin |
ORPHA:423479 |
| Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Mixed hearing impairment, Unilateral renal agenesis, Conjugated hyperb... |
OMIM:620305 |
| Coccidioidomycosis |
|
Renal insufficiency, Pericarditis, Osteomyelitis, Pneumonia, Abnormality of the kidney, Skin rash... |
ORPHA:228123 |
| Retinoblastoma |
|
Leukocoria, Uveitis, Leukemia, Hypopyon, Heterochromia iridis |
ORPHA:790 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Lethargy, Facial palsy |
OMIM:607483 |
| Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... |
OMIM:614527 |
| Au-Kline Syndrome |
|
Sensorineural hearing impairment, Chronic kidney disease, Dilatation of the renal pelvis, Microti... |
OMIM:616580 |
| Leptospirosis |
|
Pericarditis, Skin rash, First degree atrioventricular block, Cellular urinary casts, Retinal hem... |
ORPHA:509 |
| Pituitary Apoplexy |
|
Hyponatremia, Normochromic anemia, Mydriasis |
ORPHA:95613 |
| Orofaciodigital Syndrome I |
|
Low-set ears, Proteinuria, Polycystic kidney dysplasia, Hearing impairment |
OMIM:311200 |
| Oculopalatocerebral Syndrome |
|
Leukocoria |
OMIM:257910 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... |
OMIM:250250 |
| Orofaciodigital Syndrome Type 3 |
|
Stage 5 chronic kidney disease, Low-set ears |
ORPHA:2752 |
| Vici Syndrome |
|
Cataract, Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Ocula... |
OMIM:242840 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
| Genetic Transient Congenital Hypothyroidism |
|
Lethargy, Increased circulating thyroglobulin level |
ORPHA:226316 |
| Macrocephaly/Autism Syndrome |
|
Splenomegaly, Lymphopenia, Penile freckling, Hepatomegaly |
OMIM:605309 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Lethargy, Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90673 |
| Botulism |
|
Urinary retention, Mydriasis |
ORPHA:1267 |
| Endocrine-Cerebroosteodysplasia |
|
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney |
OMIM:612651 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Anisocoria, Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis |
OMIM:618653 |
| Glycine Encephalopathy |
|
EEG with burst suppression, Hyperglycinemia, Lethargy, EEG abnormality |
ORPHA:407 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Primary congenital glaucoma,... |
OMIM:105650 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
| Congenital Fibrosis Of Extraocular Muscles |
|
Anisocoria, Abnormal pupil shape, Cataract |
ORPHA:45358 |
| Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Glomerulopathy, Abnormal eosinophil morphology, Microcytic anemia, Keratitis, T... |
ORPHA:906 |
| Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tubulointerstit... |
ORPHA:904 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Recurrent otitis media, Lethargy, Failure to thrive, Bronchiectasis |
OMIM:620233 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Failure to thrive, Posteriorly rotated ears, Cholangitis, Stage 5 chronic k... |
OMIM:266920 |
| Intestinal Botulism |
|
Mydriasis |
ORPHA:178481 |
| Cranioectodermal Dysplasia 1 |
|
Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Protruding ear, ... |
OMIM:218330 |
| Foodborne Botulism |
|
Urinary retention, Mydriasis |
ORPHA:228371 |
| Infant Botulism |
|
Hyponatremia, Keratoconjunctivitis sicca, Mydriasis |
ORPHA:178478 |
| Toxin-Mediated Infectious Botulism |
|
Mydriasis |
ORPHA:230800 |
| Listeriosis |
|
Pericarditis, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Peritonitis, Endocarditis, Pyelonep... |
ORPHA:533 |
| Cranioectodermal Dysplasia 3 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:614099 |
| Cranioectodermal Dysplasia 2 |
|
Renal insufficiency, Cholangitis, Recurrent pneumonia, Renal cyst, Hyperbilirubinemia, Low-set ea... |
OMIM:613610 |
| Sarcoidosis |
|
Renal insufficiency, Maculopapular exanthema, Hypercalcemia, Facial palsy, Erythema nodosum, Neph... |
ORPHA:797 |
| Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria |
OMIM:219250 |
| Williams-Beuren Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Failure to thrive in infancy, Hypercalce... |
OMIM:194050 |
| Meacham Syndrome |
|
Accessory spleen, Enlarged kidney, Horseshoe kidney |
OMIM:608978 |
| Waardenburg Syndrome, Type 2E |
|
Aplasia of the semicircular canal, Sensorineural hearing impairment, Dilated vestibule of the inn... |
OMIM:611584 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp... |
ORPHA:35078 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... |
OMIM:127550 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Hypoplasia of penis, Abnormal hemoglobin, Abnormality of the ... |
ORPHA:847 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... |
OMIM:130650 |
| Townes-Brocks Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... |
ORPHA:857 |
| Digeorge Syndrome |
|
Renal insufficiency, Bipolar affective disorder, Acne, Unilateral renal agenesis, Seborrheic derm... |
OMIM:188400 |
| Fanconi Anemia |
|
Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Aganglionic me... |
ORPHA:84 |
| Alg9-Cdg |
|
Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, Abnormal renal artery morphology, H... |
ORPHA:79328 |
| Ebola Hemorrhagic Fever |
|
Lethargy, Acute pancreatitis, Maculopapular exanthema, Hepatitis |
ORPHA:319218 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy |
ORPHA:79330 |
| Fusariosis |
|
Brain abscess, Lung abscess, Abnormality of the kidney, Keratitis, Abnormality of the spleen, Gra... |
ORPHA:228119 |
| Townes-Brocks Syndrome 1 |
|
Overfolding of the superior helices, Renal insufficiency, Multicystic kidney dysplasia, Hypospadi... |
OMIM:107480 |
| Trichinellosis |
|
Skin rash, Facial palsy, Conjunctivitis, Apathy, Lethargy, Tinnitus |
ORPHA:863 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased... |
OMIM:617718 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Renal artery aneurysm, Elevated circulating C-reactive protein concen... |
OMIM:615688 |
| Degcags Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Small for gestational age, Bilateral renal dyspl... |
OMIM:619488 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypospadias, Renal agenesis, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, M... |
OMIM:301040 |
| Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Horseshoe kidney, Polysplenia, Enlarged kidney |
OMIM:306955 |
| Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Increa... |
ORPHA:508 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Functional abnormality of the bladder, ... |
ORPHA:391487 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Anisocoria |
OMIM:231550 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Schinzel-Giedion Syndrome |
|
Abnormality of the stapes, Hypospadias, Recurrent pneumonia, Abnormality of the ureter, Nephrolit... |
ORPHA:798 |
| Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Prostatitis, Abnormality of the kidney, Cholangitis |
ORPHA:449432 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cataract, Enlarged kidney, Cardiomegaly |
OMIM:261740 |
| Cutis Marmorata Telangiectatica Congenita |
|
Displacement of the urethral meatus, Multicystic kidney dysplasia, Leukocoria |
ORPHA:1556 |
| Acute Liver Failure |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Skin rash, Hepatitis, Hyperammonemia, Intr... |
ORPHA:90062 |
| Medulloblastoma |
|
Lethargy, Bilateral sensorineural hearing impairment, Abnormal cranial nerve morphology |
ORPHA:616 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Lethargy |
OMIM:608643 |
| Complete Atrioventricular Septal Defect |
|
Lethargy, Failure to thrive, Recurrent pneumonia |
ORPHA:1329 |
| Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Elevated circulating alpha-fetoprotein concentration, Acute lymphobl... |
OMIM:208900 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Optic nerve hypoplasia, Overweight, Sensorineural hearing impairment, Lethargy, Abnormal circulat... |
ORPHA:226307 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Renal angiomyolipoma, Elevated urin... |
OMIM:260920 |
| Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Astigmatism, Enlarged kidney, Enuresis nocturna |
OMIM:615873 |
| Oculo-Palato-Cerebral Syndrome |
|
Cataract, Leukocoria |
ORPHA:2714 |
| Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Cryptorchidism, Dilatation of the renal pelvis, Stage 5 chronic kidn... |
ORPHA:2044 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Anisocoria |
OMIM:615510 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Anemia |
ORPHA:935 |
| Cornelia De Lange Syndrome |
|
Low-set, posteriorly rotated ears, Renal insufficiency, Hypoplasia of penis, Multicystic kidney d... |
ORPHA:199 |
| Superficial Siderosis |
|
Anisocoria, Functional abnormality of the bladder |
ORPHA:247245 |
| Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal opacity, Sclerocornea,... |
ORPHA:649 |
| Cardiospondylocarpofacial Syndrome |
|
Decreased testicular size, Posteriorly rotated ears, Conductive hearing impairment, Congenital se... |
OMIM:157800 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Recurrent urinary tract infections, Neutrophilia, Microcytic anemia, Keratitis, Leu... |
ORPHA:99843 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Iris atrophy, Multicystic kidney dysplasia, Cataract, Hypospadias, Urinary incontinence, Asplenia... |
ORPHA:261552 |
| Common Variable Immunodeficiency |
|
Splenomegaly, Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia |
ORPHA:1572 |
| Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Anemia, Leukop... |
ORPHA:50918 |
| African Trypanosomiasis |
|
Papilledema, Renal insufficiency, Pericarditis, Urinary incontinence, Keratitis, Myocarditis, Wei... |
ORPHA:3385 |
| Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Optic neuropathy, Decreased nerve conduct... |
ORPHA:909 |
| Syndromic Diarrhea |
|
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Renal hypoplasia, Hypoplasia of the t... |
ORPHA:84064 |
| Alobar Holoprosencephaly |
|
Sensorineural hearing impairment, Depression, Apathy, Aspiration pneumonia, Abnormality of the au... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Sensorineural hearing impairment, Depression, Apathy, Aspiration pneumonia, Abnormality of the au... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Sensorineural hearing impairment, Depression, Apathy, Aspiration pneumonia, Abnormality of the au... |
ORPHA:93924 |
| Semilobar Holoprosencephaly |
|
Sensorineural hearing impairment, Depression, Apathy, Aspiration pneumonia, Abnormality of the au... |
ORPHA:220386 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Proteinuria, Cerebral hemorrhage |
OMIM:616682 |
| Blau Syndrome |
|
Clear cell renal cell carcinoma, Pericarditis, Skin rash, Facial palsy, Keratitis, Retrobulbar op... |
ORPHA:90340 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Anisocoria |
ORPHA:99949 |
| Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Cataract, Renal hypoplasia, Anemia, Lymphopenia, Thro... |
OMIM:620005 |
| Costello Syndrome |
|
Renal insufficiency, Posteriorly rotated ears, Vestibular schwannoma, Low-set ears, Failure to th... |
OMIM:218040 |
| Bickerstaff Brainstem Encephalitis |
|
Anisocoria, Mydriasis |
ORPHA:79138 |
| Mend Syndrome |
|
Abnormal auditory evoked potentials, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Lo... |
ORPHA:401973 |
| Arachnoid Cyst |
|
Urinary bladder sphincter dysfunction, Urinary incontinence, Mydriasis |
ORPHA:2356 |
| Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Rieger anomaly, Hypospadias, Ectopia pupillae, Iris coloboma |
OMIM:194190 |
| Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... |
ORPHA:821 |
| Sponastrime Dysplasia |
|
Cataract, Hypospadias, Neutropenia, Microcoria, Congenital aphakia |
ORPHA:93357 |
| Cardiac-Urogenital Syndrome |
|
Accessory spleen, Enlarged kidney, Patent urachus, Micropenis, Penoscrotal hypospadias |
OMIM:618280 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Lethargy, Increased circulating thyroglobulin level, Hyperbilirubinemia |
OMIM:218700 |
| Whim Syndrome |
|
Lymphopenia, Abnormal neutrophil morphology, Neutropenia |
ORPHA:51636 |
| Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Splenomegaly, Hyperbilirubinemia, Lymphopenia |
OMIM:613471 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Polysplenia, Ne... |
OMIM:312870 |
| Liver Disease, Severe Congenital |
|
Cardiomegaly, Leukopenia, Aminoaciduria, Lymphocytosis, Hypocalcemia, Elevated hepatic iron conce... |
OMIM:619991 |
| Pmm2-Cdg |
|
Pericarditis, Proteinuria, Abnormal pinna morphology, Reduced thyroxin-binding globulin, Macrotia... |
ORPHA:79318 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypoc... |
ORPHA:90363 |
| Hydranencephaly |
|
Lethargy, Optic nerve hypoplasia, Infantile sensorineural hearing impairment |
ORPHA:2177 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Chronic kidney disease, Abnormality of peripheral nerve conduction, Abn... |
ORPHA:642 |
| Mowat-Wilson Syndrome |
|
Cataract, Hypospadias, Abnormality of the kidney, Microcornea, Ectopia pupillae, Chorioretinal co... |
OMIM:235730 |
| Witteveen-Kolk Syndrome |
|
Cataract, Hypospadias, Phimosis, Anisocoria, Male urethral meatus stenosis, Microphallus, Iris co... |
OMIM:613406 |
| Alternating Hemiplegia Of Childhood |
|
Mydriasis |
ORPHA:2131 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Mydriasis |
OMIM:613834 |
| Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Hypospadias, Abnormal pupil morphology, Cystocele, Renovascular hypertension, Bladde... |
ORPHA:286 |
| Pineoblastoma |
|
Papilledema, Lethargy |
ORPHA:251909 |
| Plague |
|
Hepatomegaly, Splenomegaly, Conjunctival hyperemia, Mydriasis |
ORPHA:707 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Mydriasis |
OMIM:619727 |
