| Deafness, Autosomal Dominant 85 |
|
Cochlear nerve hypoplasia, Sensorineural hearing impairment |
OMIM:620227 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Absence of acoustic reflex, Abnormal speech discrimination, ... |
OMIM:609129 |
| Deafness-Oligodontia Syndrome |
|
Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment |
ORPHA:3230 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Absence of acoustic reflex, Sensorineural hearing impairment |
OMIM:601071 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... |
OMIM:613092 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 c... |
OMIM:614196 |
| Deafness, Autosomal Recessive 25 |
|
Abnormal vestibular function, Progressive sensorineural hearing impairment, Hearing impairment |
OMIM:613285 |
| Deafness, Autosomal Dominant 11 |
|
Vertigo, Abnormal vestibular function, Bilateral sensorineural hearing impairment |
OMIM:601317 |
| Deafness, Autosomal Recessive 2 |
|
Vertigo, Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:600060 |
| Nephrotic Syndrome, Type 23 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... |
OMIM:619201 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage ... |
OMIM:615573 |
| Deafness, Autosomal Recessive 46 |
|
Profound sensorineural hearing impairment, Absent vestibular function |
OMIM:609647 |
| Deafness, Autosomal Recessive 31 |
|
Absent vestibular function, Sensorineural hearing impairment |
OMIM:607084 |
| Deafness, Autosomal Recessive 89 |
|
Vestibular hypofunction, Sensorineural hearing impairment |
OMIM:613916 |
| Deafness, Autosomal Recessive 84B |
|
Vestibular hypofunction, Sensorineural hearing impairment |
OMIM:614944 |
| Deafness, Autosomal Recessive 18B |
|
Vestibular hypofunction, Sensorineural hearing impairment |
OMIM:614945 |
| Deafness, Autosomal Recessive 48 |
|
Profound sensorineural hearing impairment, Abnormal vestibular function |
OMIM:609439 |
| Deafness, Autosomal Dominant 70 |
|
Abnormal vestibular function, Progressive sensorineural hearing impairment |
OMIM:616968 |
| Deafness, Autosomal Recessive 45 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment |
OMIM:612433 |
| Deafness, Autosomal Dominant 79 |
|
Abnormal vestibular function, Progressive sensorineural hearing impairment |
OMIM:619086 |
| Deafness, Autosomal Recessive 94 |
|
Bilateral sensorineural hearing impairment, Abnormal vestibular function |
OMIM:618434 |
| Deafness, Autosomal Recessive 117 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:619174 |
| Deafness, Autosomal Dominant 56 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:615629 |
| Deafness, Autosomal Dominant 66 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:616969 |
| Deafness, Autosomal Dominant 81 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:619500 |
| Deafness, Autosomal Recessive 7 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:600974 |
| Deafness, Autosomal Dominant 40 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:616357 |
| 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 Recessive 1A |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:220290 |
| Deafness, Autosomal Dominant 71 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:617605 |
| Deafness, Autosomal Recessive 113 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618410 |
| Deafness, Autosomal Recessive 99 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618481 |
| Deafness, Autosomal Dominant 53 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:609965 |
| Deafness, Autosomal Dominant 25 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:605583 |
| Nephrotic Syndrome, Type 24 |
|
Focal segmental glomerulosclerosis, Renal cortical hyperechogenicity, Steroid-resistant nephrotic... |
OMIM:619263 |
| Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:618177 |
| Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... |
OMIM:618178 |
| Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:301028 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria,... |
OMIM:614131 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Acute kidney injury, Elevated circulating creatinine concentration, Abnormal glomerular mesangium... |
ORPHA:567544 |
| Auditory Neuropathy, Autosomal Dominant 2 |
|
Abnormal speech discrimination, Sensorineural hearing impairment |
OMIM:620384 |
| Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:616032 |
| Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:256020 |
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... |
OMIM:310468 |
| Focal Segmental Glomerulosclerosis 2 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... |
OMIM:603965 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia, Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Ren... |
ORPHA:54370 |
| Deafness, Autosomal Recessive 67 |
|
Bilateral sensorineural hearing impairment, Abnormal vestibular function, Sensorineural hearing i... |
OMIM:610265 |
| Focal Segmental Glomerulosclerosis 7 |
|
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... |
OMIM:616002 |
| Deafness, Autosomal Recessive 30 |
|
Progressive sensorineural hearing impairment, Progressive hearing impairment |
OMIM:607101 |
| Nephrotic Syndrome, Type 2 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hyperlipidem... |
OMIM:600995 |
| C3 Glomerulopathy 3 |
|
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... |
OMIM:614809 |
| Nephrotic Syndrome, Type 17 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:618176 |
| Nephrotic Syndrome, Type 7 |
|
Hypoalbuminemia, Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kid... |
OMIM:615008 |
| Deafness, X-Linked 4 |
|
High-frequency hearing impairment, Sensorineural hearing impairment |
OMIM:300066 |
| Deafness, Autosomal Dominant 49 |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:608372 |
| Deafness, Mid-Tone Neural |
|
Sensorineural hearing impairment, Progressive hearing impairment |
OMIM:124700 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5... |
OMIM:617609 |
| Deafness, Autosomal Recessive 20 |
|
Hearing impairment, Sensorineural hearing impairment |
OMIM:604060 |
| Deafness, Autosomal Recessive 13 |
|
Hearing impairment, Sensorineural hearing impairment |
OMIM:603098 |
| Deafness, Autosomal Recessive 29 |
|
Hearing impairment, Sensorineural hearing impairment |
OMIM:614035 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Abnormal vestibular function, Prelingual sensorineural heari... |
OMIM:616515 |
| Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... |
OMIM:620049 |
| Deafness, Autosomal Dominant 6 |
|
Low-frequency sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:600965 |
| Deafness, Autosomal Dominant 20 |
|
Bilateral sensorineural hearing impairment, Progressive sensorineural hearing impairment |
OMIM:604717 |
| Deafness, Autosomal Recessive 15 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Sensorineural hearing ... |
OMIM:601869 |
| Deafness, Autosomal Recessive 100 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618422 |
| 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 79 |
|
Progressive sensorineural hearing impairment, Sensorineural hearing impairment |
OMIM:613307 |
| Nephrotic Syndrome, Type 3 |
|
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,... |
OMIM:610725 |
| Deafness, Autosomal Recessive 35 |
|
Abnormal ear morphology, Sensorineural hearing impairment |
OMIM:608565 |
| Deafness, Autosomal Recessive 63 |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment |
OMIM:611451 |
| Nephrotic Syndrome, Type 16 |
|
Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria |
OMIM:617783 |
| Nephrotic Syndrome, Type 10 |
|
Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo... |
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, Glomerulonephritis, Glomerular deposits |
ORPHA:69063 |
| Coenzyme Q10 Deficiency, Primary, 6 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:614650 |
| Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hypertension, Mi... |
OMIM:613237 |
| Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... |
OMIM:616893 |
| Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Hematuria, Hypertension |
OMIM:607832 |
| Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
| Deafness, Autosomal Dominant 76 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:618787 |
| Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Glycosuria, Renal tubular cyst, Elevated circulating creatinine concentration, ... |
OMIM:614817 |
| Renal Failure, Progressive, With Hypertension |
|
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... |
OMIM:161900 |
| Lipoprotein Glomerulopathy |
|
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity |
OMIM:611771 |
| Deafness, Autosomal Dominant 4B |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:614614 |
| Deafness, Autosomal Recessive 101 |
|
Bilateral sensorineural hearing impairment, Abnormal vestibular function |
OMIM:615837 |
| Deafness, Autosomal Dominant 4A |
|
Progressive sensorineural hearing impairment |
OMIM:600652 |
| Deafness, Autosomal Recessive 28 |
|
Severe sensorineural hearing impairment |
OMIM:609823 |
| Deafness, Autosomal Dominant 5 |
|
Progressive sensorineural hearing impairment |
OMIM:600994 |
| Deafness, Autosomal Recessive 76 |
|
Progressive sensorineural hearing impairment |
OMIM:615540 |
| Deafness, Autosomal Recessive 85 |
|
Prelingual sensorineural hearing impairment |
OMIM:613392 |
| Deafness, Autosomal Recessive 111 |
|
Progressive sensorineural hearing impairment |
OMIM:618145 |
| Deafness, Autosomal Recessive 3 |
|
Profound sensorineural hearing impairment |
OMIM:600316 |
| Deafness, Autosomal Recessive 71 |
|
Prelingual sensorineural hearing impairment |
OMIM:612789 |
| Deafness, Autosomal Recessive 62 |
|
Prelingual sensorineural hearing impairment |
OMIM:610143 |
| Deafness, Autosomal Recessive 49 |
|
Prelingual sensorineural hearing impairment |
OMIM:610153 |
| Deafness, Autosomal Recessive 44 |
|
Prelingual sensorineural hearing impairment |
OMIM:610154 |
| Deafness, Autosomal Recessive 24 |
|
Profound sensorineural hearing impairment |
OMIM:611022 |
| Deafness, Autosomal Recessive 83 |
|
Prelingual sensorineural hearing impairment |
OMIM:613685 |
| Deafness, Autosomal Recessive 40 |
|
Prelingual sensorineural hearing impairment |
OMIM:608264 |
| Deafness, Autosomal Recessive 39 |
|
Prelingual sensorineural hearing impairment |
OMIM:608265 |
| Deafness, Autosomal Recessive 38 |
|
Prelingual sensorineural hearing impairment |
OMIM:608219 |
| Spastic Paraplegia, Sensorineural Deafness, Impaired Intellectual Development, And Progressive Nephropathy |
|
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus |
OMIM:182690 |
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... |
OMIM:308990 |
| Nephrotic Syndrome, Type 8 |
|
Chronic kidney disease, Hypoalbuminemia, Thin glomerular basement membrane, Stage 5 chronic kidne... |
OMIM:615244 |
| Deafness, Autosomal Dominant 3B |
|
Adult onset sensorineural hearing impairment |
OMIM:612643 |
| Deafness, X-Linked 3 |
|
Congenital sensorineural hearing impairment |
OMIM:300030 |
| Deafness, Autosomal Dominant 83 |
|
Bilateral sensorineural hearing impairment |
OMIM:619808 |
| Deafness, Autosomal Dominant 31 |
|
Old-aged sensorineural hearing impairment |
OMIM:608645 |
| Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome |
OMIM:616220 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa... |
ORPHA:567548 |
| Deafness, Autosomal Recessive 57 |
|
Abnormal vestibular function, Hearing impairment, Sensorineural hearing impairment |
OMIM:618003 |
| Deafness, Autosomal Dominant 75 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment |
OMIM:618778 |
| Deafness, Autosomal Recessive 8 |
|
Sensorineural hearing impairment |
OMIM:601072 |
| Deafness, Autosomal Recessive 26 |
|
Sensorineural hearing impairment |
OMIM:605428 |
| 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 Dominant 59 |
|
Sensorineural hearing impairment |
OMIM:612642 |
| Deafness, Autosomal Recessive 61 |
|
Sensorineural hearing impairment |
OMIM:613865 |
| Deafness, Autosomal Recessive 112 |
|
Sensorineural hearing impairment |
OMIM:618257 |
| Deafness, Autosomal Dominant 10 |
|
Sensorineural hearing impairment |
OMIM:601316 |
| Deafness, Autosomal Dominant 13 |
|
Sensorineural hearing impairment |
OMIM:601868 |
| Deafness, Autosomal Dominant 27 |
|
Sensorineural hearing impairment |
OMIM:612431 |
| Intellectual Developmental Disorder, X-Linked 46 |
|
Sensorineural hearing impairment |
OMIM:300436 |
| Deafness, Autosomal Recessive 53 |
|
Sensorineural hearing impairment |
OMIM:609706 |
| Deafness, Autosomal Dominant 73 |
|
Sensorineural hearing impairment |
OMIM:617663 |
| Deafness, Autosomal Recessive 17 |
|
Sensorineural hearing impairment |
OMIM:603010 |
| Deafness, Autosomal Dominant 48 |
|
Sensorineural hearing impairment |
OMIM:607841 |
| Deafness, Autosomal Dominant 37 |
|
Sensorineural hearing impairment |
OMIM:618533 |
| Deafness, Autosomal Recessive 66 |
|
Sensorineural hearing impairment |
OMIM:610212 |
| Deafness, Autosomal Recessive 5 |
|
Sensorineural hearing impairment |
OMIM:600792 |
| Deafness, Autosomal Recessive 59 |
|
Sensorineural hearing impairment |
OMIM:610220 |
| Deafness, Autosomal Recessive 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, 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 |
| Neuropathy, Hereditary Motor And Sensory, With Deafness, Impaired Intellectual Development, And Absent Sensory Large Myelinated Fibers |
|
Sensorineural hearing impairment |
OMIM:214370 |
| Deafness, Autosomal Recessive 114 |
|
Sensorineural hearing impairment |
OMIM:618456 |
| Deafness, Autosomal Recessive 115 |
|
Sensorineural hearing impairment |
OMIM:618457 |
| Deafness, Y-Linked 2 |
|
Sensorineural hearing impairment |
OMIM:400047 |
| Deafness, Autosomal Dominant 3A |
|
Sensorineural hearing impairment |
OMIM:601544 |
| Deafness, Autosomal Dominant 12 |
|
Sensorineural hearing impairment |
OMIM:601543 |
| Deafness, Autosomal Recessive 16 |
|
Sensorineural hearing impairment |
OMIM:603720 |
| Deafness, Autosomal Recessive 98 |
|
Sensorineural hearing impairment |
OMIM:614861 |
| Deafness, Autosomal Dominant 47 |
|
Sensorineural hearing impairment |
OMIM:608652 |
| Deafness, Autosomal Dominant 28 |
|
Sensorineural hearing impairment |
OMIM:608641 |
| Deafness, Autosomal Dominant 30 |
|
Sensorineural hearing impairment |
OMIM:606451 |
| Deafness, Autosomal Recessive 18A |
|
Sensorineural hearing impairment |
OMIM:602092 |
| Deafness, Autosomal Recessive 51 |
|
Sensorineural hearing impairment |
OMIM:609941 |
| Alport Syndrome 3B, Autosomal Recessive |
|
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... |
OMIM:620536 |
| Nephrotic Syndrome, Type 4 |
|
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero... |
OMIM:256370 |
| Nephrotic Syndrome, Type 21 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome... |
OMIM:618594 |
| Nephrotic Syndrome, Type 1 |
|
Hypoalbuminemia, Small for gestational age, Congenital nephrotic syndrome, Renal insufficiency, H... |
OMIM:256300 |
| 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 |
|
Optic atrophy, Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency |
OMIM:249660 |
| Glomerulopathy With Fibronectin Deposits 2 |
|
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... |
OMIM:601894 |
| Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
| Nephrotic Syndrome, Type 12 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616892 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Elevated circulating creatine... |
OMIM:614455 |
| Nephrotic Syndrome, Type 22 |
|
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... |
OMIM:619155 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, H... |
OMIM:174000 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, Hy... |
ORPHA:656 |
| Nephrotic Syndrome, Type 11 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, IgA depos... |
OMIM:616730 |
| Deafness, Autosomal Recessive 119 |
|
Sensorineural hearing impairment |
OMIM:619615 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Minimal change glomerulonephritis, Podocyte foot process effacement, Proteinuria, Colitis, Nephro... |
OMIM:617006 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hypoalbuminemia, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidn... |
OMIM:603278 |
| Usher Syndrome, Type If |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment |
OMIM:602083 |
| Galloway-Mowat Syndrome 8 |
|
Focal segmental glomerulosclerosis, Hypoalbuminemia, Hearing impairment, Stage 5 chronic kidney d... |
OMIM:618349 |
| Deafness, Autosomal Recessive 116 |
|
Sensorineural hearing impairment |
OMIM:619093 |
| C3 Glomerulopathy |
|
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated... |
ORPHA:329918 |
| Hyperprolinemia Type 1 |
|
Hyperprolinemia, Nephropathy, Prolinuria, Proteinuria |
ORPHA:419 |
| Glomerulopathy With Fibronectin Deposits 1 |
|
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... |
OMIM:137950 |
| Deafness, Autosomal Recessive 23 |
|
Sensorineural hearing impairment |
OMIM:609533 |
| Cerebellar Ataxia And Neurosensory Deafness |
|
Sensorineural hearing impairment |
OMIM:212850 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Abnormal circulating lipid concentration, Proteinuria, Hematuria, Membranoproliferative glomerulo... |
OMIM:608709 |
| Complement Component 3 Deficiency, Autosomal Recessive |
|
Nephrotic syndrome, Recurrent pneumonia, Renal insufficiency, Membranoproliferative glomeruloneph... |
OMIM:613779 |
| Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca... |
OMIM:618013 |
| Deafness, Autosomal Recessive 37 |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:607821 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Polycystic Kidney Disease 7 |
|
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... |
OMIM:620056 |
| Reni Syndrome |
|
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Stage ... |
OMIM:617575 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration |
ORPHA:231249 |
| Deafness, Autosomal Dominant 44 |
|
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... |
OMIM:607453 |
| Deafness, Autosomal Dominant 86 |
|
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... |
OMIM:620280 |
| Nephronophthisis-Like Nephropathy 2 |
|
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc... |
OMIM:619468 |
| Proteinuria, Chronic Benign |
|
Proteinuria, Albuminuria, Renal insufficiency |
OMIM:618884 |
| Oculorenocerebellar Syndrome |
|
Nephropathy, Glomerular sclerosis |
OMIM:257970 |
| Arthrogryposis, Distal, Type 6 |
|
Sensorineural hearing impairment |
OMIM:108200 |
| Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis |
OMIM:613913 |
| Nephronophthisis 13 |
|
Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immu... |
OMIM:614377 |
| Hypercalcemia, Infantile, 1 |
|
Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Nephrolithiasis, Lethargy, Hyper... |
OMIM:143880 |
| Galloway-Mowat Syndrome 4 |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome... |
OMIM:617730 |
| Galloway-Mowat Syndrome 7 |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... |
OMIM:618348 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Nephropathy, Elevated circulating cre... |
OMIM:617056 |
| Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:614199 |
| Branchiootorenal Syndrome 2 |
|
Renal insufficiency, Hearing impairment, Renal dysplasia |
OMIM:610896 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur... |
OMIM:613944 |
| Hematuria, Benign Familial, 2 |
|
Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria, Sensorineur... |
OMIM:620320 |
| Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,... |
OMIM:618913 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... |
OMIM:615285 |
| Nail-Patella-Like Renal Disease |
|
Renal insufficiency, Proteinuria, Hypertension, Glomerulopathy, Microscopic hematuria |
ORPHA:2613 |
| Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy, Sensorineural hearing impairment |
OMIM:136600 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Enterocolitis, Mesangial hypercellularity |
OMIM:620425 |
| Deafness, Autosomal Dominant 87 |
|
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment |
OMIM:620281 |
| Iga Nephropathy, Susceptibility To, 3 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... |
OMIM:616818 |
| Hypercalcemia, Infantile, 2 |
|
Renal phosphate wasting, Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Hyperca... |
OMIM:616963 |
| Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... |
OMIM:613496 |
| Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Hearing impairment, Lar... |
OMIM:617731 |
| Deafness, Autosomal Recessive 121 |
|
Vestibular hypofunction, Sensorineural hearing impairment |
OMIM:620551 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, ... |
ORPHA:94088 |
| Galloway-Mowat Syndrome 10 |
|
Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ... |
OMIM:619609 |
| Nephronophthisis 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... |
OMIM:604387 |
| Ectodermal Dysplasia And Neurosensory Deafness |
|
Sensorineural hearing impairment |
OMIM:224800 |
| C1Q Deficiency 1 |
|
Membranoproliferative glomerulonephritis |
OMIM:613652 |
| Senior-Loken Syndrome 1 |
|
Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... |
OMIM:266900 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane... |
OMIM:104200 |
| Deafness, Autosomal Dominant 77 |
|
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment |
OMIM:618915 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Hype... |
ORPHA:84090 |
| Hypouricemia, Renal, 1 |
|
Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati... |
OMIM:220150 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Abnormal bleeding, Glomerulonephritis |
OMIM:314000 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
| Systemic Lupus Erythematosus 16 |
|
Lupus nephritis |
OMIM:614420 |
| Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology |
OMIM:602114 |
| Nephronophthisis 1 |
|
Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal... |
OMIM:256100 |
| Galloway-Mowat Syndrome 2, X-Linked |
|
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:301006 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur... |
OMIM:161950 |
| Dent Disease |
|
Renal hypophosphatemia, Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerul... |
ORPHA:1652 |
| Alport Syndrome |
|
Focal segmental glomerulosclerosis, Nephritis, Thickened glomerular basement membrane, Glomerular... |
ORPHA:63 |
| Aapoaiv Amyloidosis |
|
Chronic kidney disease, Atrial fibrillation, Renal amyloidosis, Atrial flutter, Hypertrophic card... |
ORPHA:439232 |
| Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts, Hyperuricemia |
OMIM:609886 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne... |
OMIM:612925 |
| Galloway-Mowat Syndrome 6 |
|
Focal segmental glomerulosclerosis, Hypoalbuminemia, Decreased body weight, Proteinuria, Nephroti... |
OMIM:618347 |
| Hyperlysinuria With Hyperammonemia |
|
Hyperlysinuria, Hyperammonemia, Lethargy, Hyperlysinemia, Dibasicaminoaciduria |
OMIM:238750 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Lethargy, Renal insufficiency, Hyperammonemia, Failure to thrive |
ORPHA:28 |
| Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
| Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease |
OMIM:136680 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... |
OMIM:601331 |
| Complement Component 4A Deficiency |
|
Vasculitis, Purpura, Glomerulonephritis |
OMIM:614380 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Pulmonary hemorrhage, Mesangial hypercellularity, Arthritis, Elevated circulating C-reactive prot... |
OMIM:616414 |
| Cystinuria |
|
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... |
OMIM:220100 |
| Complement Factor H Deficiency |
|
Chronic kidney disease, Hematuria, Thickened glomerular basement membrane, Glomerular subendothel... |
OMIM:609814 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... |
OMIM:612926 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
| Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, Glomerulonephritis |
ORPHA:2172 |
| Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria, Hypertension |
ORPHA:2820 |
| Immunodeficiency 53 |
|
Recurrent urinary tract infections, Impaired lymphocyte transformation with phytohemagglutinin, N... |
OMIM:617585 |
| Bardet-Biedl Syndrome 10 |
|
Renal cyst, Obesity, Renal insufficiency |
OMIM:615987 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephropathy, Gastrointestinal hemorrhage, Abnormal urinary electrolyte concentration, Congestive ... |
ORPHA:85450 |
| Pauci-Immune Glomerulonephritis |
|
Acute kidney injury, Arteritis, Elevated circulating creatinine concentration, Decreased glomerul... |
ORPHA:93126 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... |
OMIM:612924 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d... |
OMIM:614723 |
| Xanthinuria, Type Ii |
|
Hypouricemia, Increased circulating hypoxanthine concentration, Increased urinary hypoxanthine le... |
OMIM:603592 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Glomerulonephritis |
OMIM:247800 |
| Galactosemia I |
|
Aminoaciduria, Galactosuria, Increased level of galactitol in red blood cells, Failure to thrive,... |
OMIM:230400 |
| Worster-Drought Syndrome |
|
Abnormal cranial nerve morphology, Sensorineural hearing impairment |
ORPHA:3465 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Renal hypoplasia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... |
OMIM:614376 |
| Autosomal Recessive Spastic Paraplegia Type 27 |
|
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment |
ORPHA:101007 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Cataract, Iris coloboma, Hearing impairment |
OMIM:120433 |
| Membranoproliferative Glomerulonephritis, X-Linked |
|
Cardiac shunt, Membranoproliferative glomerulonephritis |
OMIM:305800 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
EEG with parietal epileptiform discharges, Continuous spike and waves during slow sleep, EEG with... |
OMIM:619428 |
| Hanac Syndrome |
|
Hematuria, Multiple renal cysts, Renal insufficiency |
ORPHA:73229 |
| Non-Syndromic Genetic Deafness |
|
Prelingual sensorineural hearing impairment, Conductive hearing impairment, Progressive sensorine... |
ORPHA:87884 |
| Senior-Loken Syndrome 6 |
|
Stage 5 chronic kidney disease |
OMIM:610189 |
| Nephronophthisis 4 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia... |
OMIM:606966 |
| Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria |
OMIM:606996 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Chronic kidney disease, Failure to thrive, Hyperechogenic kidneys, Hypomagnesemia, Hyperuricemia,... |
OMIM:613845 |
| Bardet-Biedl Syndrome 18 |
|
Obesity, Stage 5 chronic kidney disease, Renal insufficiency |
OMIM:615995 |
| Alport Syndrome 2, Autosomal Recessive |
|
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Cata... |
OMIM:203780 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia, Recurrent urinary tract infections |
OMIM:300988 |
| Bardet-Biedl Syndrome 14 |
|
Obesity, Renal insufficiency |
OMIM:615991 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypoalbuminemia, Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glome... |
ORPHA:567546 |
| Ataxia, Deafness, And Cardiomyopathy |
|
Sensorineural hearing impairment |
OMIM:208750 |
| Nephronophthisis 9 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts |
OMIM:613824 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Focal segmental glomerulosclerosis, Failure to thrive, Hearing impairment, Enterocolitis, Nephrot... |
OMIM:301108 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Failure to thrive, Elevated urinary dihydrothymine level, Lethargy, Uraciluria |
OMIM:274270 |
| Deafness, Autosomal Dominant 9 |
|
Cochlear degeneration, Vertigo, Abnormality of the vestibulocochlear nerve, Tinnitus, Postlingual... |
OMIM:601369 |
| Nephronophthisis 20 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... |
OMIM:617271 |
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ... |
OMIM:600791 |
| Bardet-Biedl Syndrome 16 |
|
Hearing impairment, Renal agenesis, Recurrent otitis media, Obesity, Stage 5 chronic kidney disea... |
OMIM:615993 |
| Hematuria, Benign Familial, 1 |
|
Hematuria, Thin glomerular basement membrane |
OMIM:141200 |
| Camos Syndrome |
|
Optic atrophy, Nephrotic syndrome, Renal insufficiency |
ORPHA:83472 |
| Deafness, Autosomal Dominant 50 |
|
Sensorineural hearing impairment, Tinnitus, Progressive sensorineural hearing impairment, Progres... |
OMIM:613074 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Galloway-Mowat Syndrome 9 |
|
Focal segmental glomerulosclerosis, Low-set ears, Stage 5 chronic kidney disease, Diffuse mesangi... |
OMIM:619603 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Optic atrophy, Failure to thrive, Increased lev... |
ORPHA:26792 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Gout, Hyperuri... |
OMIM:162000 |
| Cryoglobulinemia, Familial Mixed |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Proteinuria, Hy... |
OMIM:123550 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Elevated circulating acylcarnitine concentration, Red-brown urine, Stage 5 chronic kidney disease... |
ORPHA:228302 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... |
OMIM:611555 |
| Nathalie Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2663 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... |
OMIM:603902 |
| Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... |
OMIM:617610 |
| Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... |
ORPHA:617 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Sensorineural hearing impairment, Hematuria, Posterior embryotoxon, Corneal opacity, Ir... |
ORPHA:1473 |
| Deafness, X-Linked 2 |
|
Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari... |
OMIM:304400 |
| Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa... |
ORPHA:347 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie... |
ORPHA:79233 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium... |
OMIM:618314 |
| Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment |
|
Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate |
OMIM:242530 |
| Oligomeganephronia |
|
Unilateral renal agenesis, Abnormal nephron morphology, Hearing impairment, Bilateral renal hypop... |
ORPHA:2260 |
| Atypical Hemolytic Uremic Syndrome |
|
Proteinuria, Hematuria, Acute kidney injury |
ORPHA:2134 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Aminoaciduria, Hyperglycinemia, Renal insufficiency, Hyperamylasemia, Elevated circulating creati... |
OMIM:619386 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Failure to thrive, Chilblains, Intestinal inflammation, Proteinuria, Membranoproliferative glomer... |
OMIM:619858 |
| Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
| Renal Hypoplasia, Bilateral |
|
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Failure... |
ORPHA:97362 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Acquired Partial Lipodystrophy |
|
Proteinuria, Glomerulopathy, Microscopic hematuria, Hearing impairment |
ORPHA:79087 |
| Nephronophthisis 2 |
|
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... |
OMIM:602088 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Proteinuria, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Abnormal renal tubule... |
ORPHA:839 |
| Glycine Encephalopathy 1 |
|
Hyperglycinuria, Lethargy, Hyperglycinemia |
OMIM:605899 |
| Fanconi Renotubular Syndrome 3 |
|
Aminoaciduria, Glycosuria, Elevated circulating creatinine concentration, Low-molecular-weight pr... |
OMIM:615605 |
| Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... |
OMIM:616648 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Hearing impairment, Renal dysplasia, Elevated circulating creatinine concentration, Abnormal rena... |
OMIM:616733 |
| Hydroxyprolinemia |
|
Hydroxyprolinemia, Microscopic hematuria |
OMIM:237000 |
| Galloway-Mowat Syndrome 3 |
|
Low-set ears, Hypoalbuminemia, Failure to thrive, Stage 5 chronic kidney disease, Proteinuria, Di... |
OMIM:617729 |
| Nephronophthisis 7 |
|
Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis |
OMIM:611498 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia, Proteinuria, Nephrotic syndrome |
OMIM:614652 |
| Type 1 Diabetes Mellitus |
|
Decreased level of 1,5 anhydroglucitol in serum, Polyuria |
OMIM:222100 |
| Thrombotic Thrombocytopenic Purpura |
|
Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria, Arrhythmia, Decreased serum cre... |
ORPHA:54057 |
| Preeclampsia/Eclampsia 1 |
|
Proteinuria, Hypertension |
OMIM:189800 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypernatriuria, Failure to thrive, Decreased glomerular filtration rate, Reduce... |
OMIM:602522 |
| Actinic Prurigo |
|
Pyoderma, Cheilitis, Glomerulonephritis |
OMIM:174770 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Polyuria |
OMIM:620152 |
| Renal Hypoplasia |
|
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... |
ORPHA:93101 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Proteinuria, Renal insufficiency, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2202 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
| Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricemia, Hyperuri... |
ORPHA:411536 |
| Cryofibrinogenemia, Familial Primary |
|
Hematuria, Transient nephrotic syndrome |
OMIM:123540 |
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Hearing impairment, Cochlear degeneration |
OMIM:271250 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Glycogen Storage Disease Xi |
|
Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas... |
OMIM:612933 |
| Glutaric Acidemia Type 3 |
|
Glutaric aciduria, Elevated circulating glutaric acid concentration, Ketonuria, Failure to thrive... |
ORPHA:35706 |
| Lethal Infantile Mitochondrial Myopathy |
|
Lethargy, Renal insufficiency |
ORPHA:254857 |
| Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Ca... |
OMIM:308940 |
| Preeclampsia |
|
Chronic kidney disease, Acute kidney injury, Elevated circulating creatinine concentration, Renal... |
ORPHA:275555 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Focal segmental glomerulosclerosis, Sensorineural hearing impairment, Proteinuria, Elevated circu... |
OMIM:607426 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Obesity, Proteinuria, Increased blood urea nitrogen, Membranoproliferative glomerulonephritis, Ma... |
ORPHA:251004 |
| Nephronophthisis |
|
Renal insufficiency |
ORPHA:655 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Elevated urinary dopamine level, Conductive hearing impairment, Elevated urinary norepinephrine l... |
ORPHA:276621 |
| Dent Disease 2 |
|
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig... |
OMIM:300555 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Optic atrophy, Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Lethargy, Pancreat... |
ORPHA:289916 |
| Igg4-Related Kidney Disease |
|
Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti... |
ORPHA:449395 |
| Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration |
OMIM:261670 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Optic atrophy, Failure to thrive, Renal insufficiency, Hyperammonemia, Lethargy, Pancreatitis |
ORPHA:79312 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... |
ORPHA:976 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Tubulointerstitial fibrosis |
OMIM:263000 |
| Deafness, Autosomal Recessive 77 |
|
Tinnitus, Abnormal vestibular function, Bilateral sensorineural hearing impairment |
OMIM:613079 |
| Opticocochleodentate Degeneration |
|
Optic atrophy, Hearing impairment, Cochlear degeneration |
OMIM:258700 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Neutropenia-Monocytopenia-Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2690 |
| Pupillary Membrane, Persistence Of |
|
Persistent pupillary membrane, Developmental cataract, Megalocornea |
OMIM:178900 |
| Indomethacin Embryofetopathy |
|
Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Renal insufficiency, Abnormal renal tu... |
ORPHA:1909 |
| Myoglobinuria, Autosomal Dominant |
|
Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:160010 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Acute kidney injury, Rheumatoid arthritis, Elevated circulating creatinine concentration, Unilate... |
ORPHA:49041 |
| Renal Tubular Acidosis, Distal, 1 |
|
Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, H... |
OMIM:179800 |
| Immunodeficiency 91 And Hyperinflammation |
|
Recurrent pneumonia, Failure to thrive, Renal insufficiency, Membranoproliferative glomerulonephr... |
OMIM:619644 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid... |
ORPHA:2394 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Proteinuria, Glomerulopathy, Hypercalcemia, Renal insufficiency |
ORPHA:2668 |
| Central Diabetes Insipidus |
|
Depression, Failure to thrive, Hyponatremia, Lethargy, Weight loss, Nocturia |
ORPHA:178029 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Homocystinuria, Methylmalonic aciduria, Failure to thrive, Hypomethioninemia, Lethargy, Hyperhomo... |
OMIM:236270 |
| Amyloidosis, Hereditary Systemic 2 |
|
Nephropathy, Renal amyloidosis, Skin rash, Proteinuria, Hematuria, Nephrotic syndrome |
OMIM:105200 |
| Senior-Loken Syndrome 5 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:609254 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy |
OMIM:601382 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... |
ORPHA:320401 |
| Complement Factor I Deficiency |
|
Vasculitis, Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal ins... |
OMIM:610984 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hypernatriuria, Failure to thrive, Decreased glomerular filtration rate, Renal ... |
OMIM:613090 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent urinary tract infections, Recurrent otitis media, Stage 5 chronic kidney disease, Recur... |
OMIM:615559 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Lesch-Nyhan Syndrome |
|
Hematuria, Gout, Renal insufficiency, Hyperuricemia |
ORPHA:510 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Nephropathy, Pneumonia, Depression, Elevated circulating creatinine concentration, Skin rash, Pro... |
ORPHA:247691 |
| Immunodeficiency 24 |
|
Lymphopenia, Decreased proportion of memory B cells, Reduced proportion of mucosal-associated inv... |
OMIM:615897 |
| Conductive Deafness-Malformed External Ear Syndrome |
|
Low-set ears, Conductive hearing impairment, Stenosis of the external auditory canal, Overfolded ... |
ORPHA:3216 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Nephrocalcinosis, Failure to thrive, Distal renal tubular acidosis, Hypokalemia, Lethargy, Isothe... |
OMIM:611590 |
| Angioma, Hereditary Neurocutaneous |
|
Hematuria |
OMIM:106070 |
| Galloway-Mowat Syndrome 1 |
|
Focal segmental glomerulosclerosis, Low-set ears, Optic atrophy, Hypoalbuminemia, Renal insuffici... |
OMIM:251300 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Chronic kidney disease, Renal agenesis, Obesity, Vesicoureteral reflux, Hyperuricemia, Proteinuri... |
ORPHA:261222 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Elevated circulating creatinine concentration, Glomerular sclerosis, Increased blood urea nitroge... |
OMIM:223900 |
| Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hyperlipidemia, Gout, H... |
OMIM:232200 |
| Hypomagnesemia 3, Renal |
|
Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating... |
OMIM:248250 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Lethargy, Hyperammonemia, 3-Methylglutaconic aciduria, Elevated circulating creatine kinase conce... |
OMIM:618120 |
| Hereditary Xanthinuria |
|
Hypouricemia, Decreased urinary urate, Acute kidney injury, Rheumatoid arthritis, Recurrent urina... |
ORPHA:3467 |
| Glycogen Storage Disease Iv |
|
Cardiomyopathy, Abnormal circulating creatine kinase concentration, Portal hypertension, Tubuloin... |
OMIM:232500 |
| Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria, Moderate albuminuria, Renal insufficiency, Recurrent urinary tract infections |
OMIM:618882 |
| Renal Glucosuria |
|
Enuresis nocturna, Glycosuria, Polyuria |
OMIM:233100 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Failure to thrive, Colonic eosinophilia, Membranous nephropathy, Nephrotic syn... |
OMIM:618999 |
| Lcat Deficiency |
|
Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glomerular filtration rat... |
ORPHA:650 |
| Coach Syndrome 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal interstitial fibrosi... |
OMIM:619113 |
| Rhabdomyolysis, Susceptibility To, 1 |
|
Renal insufficiency, Abnormal circulating acylcarnitine concentration, Elevated circulating creat... |
OMIM:620235 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Proteinuria, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Increased serum bile acid concent... |
OMIM:620010 |
| Papillorenal Syndrome |
|
Chronic kidney disease, Cataract, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidne... |
OMIM:120330 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Abnormal renal physiology, Elevated circulating creatinine concentration, Transient ischemic atta... |
OMIM:274150 |
| Uremic Pruritus |
|
Chronic kidney disease, Renal hypophosphatemia, Hypermagnesemia, Depression, Inflammatory abnorma... |
ORPHA:94059 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Lethargy, Dicarboxylic aciduria |
OMIM:615026 |
| Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... |
OMIM:617319 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas... |
ORPHA:2364 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Portal hyperte... |
OMIM:263200 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Nephropathy, Focal segmental glomerulosclerosis, Hypoalbuminemia, Renal insufficiency, Proteinuri... |
OMIM:254900 |
| Alport Syndrome 1, X-Linked |
|
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Ante... |
OMIM:301050 |
| Congenital Megacalycosis |
|
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... |
ORPHA:93109 |
| Medullary Sponge Kidney |
|
Hematuria, Distal renal tubular acidosis, Hypercalciuria, Nephrolithiasis |
ORPHA:1309 |
| Nephrosialidosis |
|
Nephropathy, Nephrotic syndrome, Renal insufficiency |
OMIM:256150 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... |
OMIM:300971 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Elevated urinary dopamine level, Conductive hearing impairment, Elevated urinary norepinephrine l... |
ORPHA:29072 |
| Drug-Induced Lupus Erythematosus |
|
Malar rash, Petechiae, Elevated circulating creatine kinase concentration, Hematuria, Increased b... |
ORPHA:231111 |
| Al Amyloidosis |
|
Hypoalbuminemia, Gastrointestinal hemorrhage, Abnormal P wave, Postural hypotension with compensa... |
ORPHA:85443 |
| Cednik Syndrome |
|
Optic atrophy, Abnormality of peripheral nerve conduction, Sensorineural hearing impairment, Prot... |
ORPHA:66631 |
| Aicardi-Goutieres Syndrome 9 |
|
Thickened glomerular basement membrane, Optic atrophy, Hypoalbuminemia, Failure to thrive, Recurr... |
OMIM:619487 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Lessel-Kubisch Syndrome |
|
Hypertension, Renal hypoplasia, Renal insufficiency |
OMIM:618681 |
| Hepatic Veno-Occlusive Disease |
|
Increased body weight, Renal insufficiency, Increased total bilirubin |
ORPHA:890 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Failure to thrive, Decreased nerve conduction velocity, Hyperornithinemia, Hyperammonemia, Lethar... |
OMIM:238970 |
| Hyperleucine-Isoleucinemia |
|
Sensorineural hearing impairment |
OMIM:238340 |
| Dihydropyrimidinase Deficiency |
|
Failure to thrive, Elevated circulating thymine concentration, Elevated urinary thymine level, El... |
OMIM:222748 |
| Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketonuria, Glycosuria, Failure to thrive, Hyperlipidemia, Lethargy |
ORPHA:2089 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Retinal hemorrhage, Elevated circulating creatine kinase concentration, Hema... |
OMIM:611773 |
| Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
| Senior-Loken Syndrome 3 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis |
OMIM:606995 |
| Hyperuricemia, Hprt-Related |
|
Renal insufficiency, Podagra, Hyperuricemia, Nephrolithiasis, Hyperuricosuria |
OMIM:300323 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Hypernatremia, Polyuria, Megacystis |
OMIM:125800 |
| Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Hypernatremia, Polyuria, Megacystis |
OMIM:304800 |
| Lysinuric Protein Intolerance |
|
Increased LDL cholesterol concentration, Hyperglycinemia, Glomerulonephritis, Tubulointerstitial ... |
ORPHA:470 |
| Severe Canavan Disease |
|
Optic atrophy, Lethargy, Elevated urine N-acetylaspartic acid level |
ORPHA:314911 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Optic atrophy, Renal insufficiency, Hyperammonemia, Lethargy, Pancreatitis |
ORPHA:27 |
| Anti-Glomerular Basement Membrane Disease |
|
Vasculitis, Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Arthritis, Purpura |
ORPHA:375 |
| Denys-Drash Syndrome |
|
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... |
OMIM:194080 |
| Otosclerosis 7 |
|
Otosclerosis, Conductive hearing impairment, Hearing impairment, Progressive hearing impairment, ... |
OMIM:611572 |
| Systemic Lupus Erythematosus |
|
Nephritis, Malar rash, Lupus nephritis, Arthritis, Pericarditis |
OMIM:152700 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Isolated Atp Synthase Deficiency |
|
Optic atrophy, Renal hypoplasia, Hyperammonemia, 3-Methylglutaconic aciduria, Sensorineural heari... |
ORPHA:254913 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Posterior Urethral Valve |
|
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... |
ORPHA:93110 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis, Hepatomegaly |
OMIM:613977 |
| Denys-Drash Syndrome |
|
Nephropathy, Nephroblastoma, Proteinuria, Nephrotic syndrome, Hypertension |
ORPHA:220 |
| Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... |
OMIM:619274 |
| Deafness-Infertility Syndrome |
|
Sensorineural hearing impairment |
ORPHA:94064 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Decreased urinary neopterin level, Elevated urinary sulfatide level, Lethargy, Hyperphenylalanine... |
OMIM:233910 |
| Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Nephropathy, Hematuria, Nephrolithiasis |
ORPHA:2196 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic aciduria, Failure to thrive, Stage 5 chronic kidney disease, Hyperglycinemia, Hyper... |
OMIM:251000 |
| Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil... |
OMIM:232220 |
| Alagille Syndrome 2 |
|
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria... |
OMIM:610205 |
| Intellectual Developmental Disorder, Autosomal Recessive 50 |
|
Sensorineural hearing impairment |
OMIM:616460 |
| Systemic Sclerosis |
|
Chronic kidney disease, Intestinal bleeding, Telangiectasia, Glomerulonephritis, Abnormality of t... |
ORPHA:90291 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio... |
OMIM:143400 |
| Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Acute kidney injury, Renal insufficiency, Gout, Hyperuricemia, Sensorineural hearing impairment, ... |
ORPHA:411543 |
| Hemorrhagic Fever-Renal Syndrome |
|
Chronic kidney disease, Hyperphosphatemia, Hematuria, Glomerulonephritis, Tubulointerstitial neph... |
ORPHA:340 |
| Holocarboxylase Synthetase Deficiency |
|
Perioral eczema, Organic aciduria, Eczematoid dermatitis, Hyperammonemia, Keratoconjunctivitis, L... |
ORPHA:79242 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Sensorineural hearing impairment |
OMIM:608653 |
| Reticular Dysgenesis |
|
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus |
OMIM:267500 |
| Deafness, Autosomal Dominant 36 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:606705 |
| Deafness, Autosomal Dominant 43 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:608394 |
| Deafness, Autosomal Dominant 33 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:614211 |
| Deafness, Autosomal Dominant 64 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:614152 |
| Deafness, Autosomal Dominant 67 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:616340 |
| Deafness, Autosomal Dominant 72 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:617606 |
| Deafness, Autosomal Dominant 82 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:619804 |
| Deafness, Y-Linked 1 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:400043 |
| Bartter Syndrome, Type 3 |
|
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Increased urinary potassium, Impaired renal tu... |
OMIM:607364 |
| Glycogen Storage Disease Ic |
|
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Spider hemangioma, Decre... |
OMIM:232240 |
| Liddle Syndrome |
|
Nephropathy, Cerebral ischemia, Renal insufficiency, Hypokalemia, Arrhythmia, Hypertension |
ORPHA:526 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Failure to thrive, Acute hyperammonemi... |
OMIM:210200 |
| Senior-Loken Syndrome 8 |
|
Glomerular subepithelial immune-complex deposits, Global glomerulosclerosis, Stage 5 chronic kidn... |
OMIM:616307 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni... |
OMIM:613095 |
| Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... |
OMIM:613550 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Periodontitis, Prolonged bleeding following procedure, Tubul... |
ORPHA:79259 |
| Trimethylaminuria |
|
Anemia, Trimethylaminuria, Splenomegaly, Neutropenia |
OMIM:602079 |
| Malaria |
|
Elevated circulating C-reactive protein concentration, Acute kidney injury, Hyperbilirubinemia |
ORPHA:673 |
| Deafness, Autosomal Dominant 23 |
|
Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:605192 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Acute kidney injury, Hyperkalemia, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:268200 |
| Schimke Immuno-Osseous Dysplasia |
|
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Failure to th... |
ORPHA:1830 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Proximal tubulopathy, Failure to thrive, Polyuria, Hearing impairment |
OMIM:560000 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Nephropathy, Aminoaciduria, Nephrocalcinosis, Low-set ears, Giant cell hepatitis, Glycosuria, Fai... |
OMIM:613404 |
| Myh9-Related Disease |
|
Nephropathy, Nephritis, Bruising susceptibility, Renal insufficiency, Spontaneous, recurrent epis... |
ORPHA:182050 |
| Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Hyperuricemia, Renal ... |
OMIM:603860 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hyperleucinemia, Hyperammonemia, Decreased body weight, Hypervalinemia, Increa... |
OMIM:620085 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperlipidemia, Hyper... |
OMIM:235400 |
| Pierson Syndrome |
|
Cataract, Hyperechogenic kidneys, Hypoplasia of the iris, Stage 5 chronic kidney disease, Rieger ... |
OMIM:609049 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Elevated systolic blood pressure, Hypernatriuria, Decreased circulating renin level, Hyponatremia... |
OMIM:300539 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva... |
OMIM:615751 |
| Familial Mediterranean Fever, Autosomal Dominant |
|
Renal amyloidosis, Erysipelas, Renal insufficiency, Proteinuria, Peritonitis |
OMIM:134610 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Hepatomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Auto... |
OMIM:614470 |
| Non-Functioning Paraganglioma |
|
Elevated urinary dopamine level, Conductive hearing impairment, Elevated urinary norepinephrine l... |
ORPHA:94080 |
| Glycogen Storage Disease V |
|
Dark urine, Failure to elevate ammonia on ischemic exercise, Hyperuricemia, Elevated circulating ... |
OMIM:232600 |
| Bardet-Biedl Syndrome 17 |
|
Obesity, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis |
OMIM:615994 |
| Nephronophthisis 16 |
|
Aortic valve stenosis, Nephronophthisis, Hypertrophic cardiomyopathy, Stage 5 chronic kidney dise... |
OMIM:615382 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, Low-set ears, Abnormal helix morphology, Cataract, Hearing impairment, Opacificati... |
OMIM:214100 |
| Aa Amyloidosis |
|
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Hypotension, Protein... |
ORPHA:85445 |
| Hinman Syndrome |
|
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E... |
ORPHA:84085 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
| Tyrosinemia, Type I |
|
Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Failure to thrive, ... |
OMIM:276700 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Focal segmental glomerulosclerosis, Optic atrophy, Hearing impairment, Elevated circulating creat... |
OMIM:616239 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Specific Granule Deficiency 1 |
|
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... |
OMIM:245480 |
| Nail-Patella Syndrome |
|
Keratoconus, Microcornea, Cataract, Renal insufficiency, Sensorineural hearing impairment, Hematu... |
OMIM:161200 |
| Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Facial paralysis, Alpha-amino... |
OMIM:605711 |
| Branchiootic Syndrome 1 |
|
Low-set ears, Dilatated internal auditory canal, Cupped ear, Sensorineural hearing impairment, Mi... |
OMIM:602588 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Cardiomyopathy, Renal insufficiency, Hyperuricemia, Arrhythmia, Hypertension |
ORPHA:3222 |
| Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
| Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Chronic kidney disease, Failure to thrive, Renal tubular acidosis, 3-Methylglutaconic aciduria, E... |
ORPHA:324525 |
| Developmental And Epileptic Encephalopathy 41 |
|
Lethargy, Nephrocalcinosis, Hypsarrhythmia, EEG abnormality |
OMIM:617105 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Glomerulonephritis, Thyroiditis |
OMIM:619375 |
| Argininemia |
|
Hyperammonemia, Diaminoaciduria, EEG abnormality |
ORPHA:90 |
| Urofacial Syndrome 2 |
|
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... |
OMIM:615112 |
| 46,Xy Sex Reversal 4 |
|
Recurrent otitis media, Elevated circulating creatinine concentration, Ureteropelvic junction obs... |
OMIM:154230 |
| Bacterial Toxic-Shock Syndrome |
|
Glomerulonephritis, Tachycardia, Recurrent skin infections, Shock, Elevated circulating creatinin... |
ORPHA:36234 |
| Retinitis Pigmentosa 59 |
|
Micropenis, Renal insufficiency, Failure to thrive, Sensorineural hearing impairment |
OMIM:613861 |
| Deafness, Autosomal Dominant 16 |
|
Tinnitus, Adult onset sensorineural hearing impairment |
OMIM:603964 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Hyperammonemia, Elevated circulati... |
ORPHA:42 |
| Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff... |
OMIM:609583 |
| Cystinosis, Nephropathic |
|
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Weight loss, Aminoaci... |
OMIM:219800 |
| Autoimmune Hepatitis |
|
Inflammation of the large intestine, Depression, Increased total bilirubin, Sclerosing cholangiti... |
ORPHA:2137 |
| Bartter Syndrome, Type 1, Antenatal |
|
Nephrocalcinosis, Hyperchloriduria, Renal juxtaglomerular cell hypertrophy/hyperplasia, Increased... |
OMIM:601678 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Chronic kidney disease, Thickened glomerular basement membrane, Nephrocalcinosis, Unilateral rena... |
OMIM:146255 |
| Simple Cryoglobulinemia |
|
Nephritis, Vasculitis, Gastrointestinal hemorrhage, Viral hepatitis, Congestive heart failure, Re... |
ORPHA:91139 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Hyperglycinuria, Decreased circulating carnitine concentration, Ketonuria, Organic aciduria, Fail... |
OMIM:210210 |
| Imerslund-Grasbeck Syndrome 1 |
|
Proteinuria, Microscopic hematuria |
OMIM:261100 |
| Hyperprolinemia Type 2 |
|
Increased urine alpha-ketoglutarate concentration, Depression, Prolinuria, Hydroxyprolinuria, EEG... |
ORPHA:79101 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Proteinuria, Low-set ears, Tubulointerstitial nephritis |
OMIM:616901 |
| Cystinuria |
|
Hematuria, Renal insufficiency, Hyperuricemia, Nephrolithiasis |
ORPHA:214 |
| Fanconi Renotubular Syndrome 2 |
|
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... |
OMIM:613388 |
| Acrorenal Syndrome |
|
Abnormal renal morphology, Renal insufficiency, Renal hypoplasia/aplasia |
ORPHA:971 |
| Otosclerosis 11 |
|
Absence of acoustic reflex, Otosclerosis, Conductive hearing impairment, Sensorineural hearing im... |
OMIM:620576 |
| Anterior Segment Dysgenesis 3 |
|
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... |
OMIM:601631 |
| Deafness, Autosomal Recessive 103 |
|
Abnormal vestibular function, Vestibular areflexia, Sensorineural hearing impairment |
OMIM:616042 |
| Bardet-Biedl Syndrome 19 |
|
Renal hypoplasia, Hearing impairment, Obesity, Renal insufficiency, Hydronephrosis |
OMIM:615996 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Aminoaciduria, Hypouricemia, Nephrocalcinosis, Glycosuria, Large for gestational age, Hyperphosph... |
OMIM:616026 |
| Hyperparathyroidism, Neonatal Severe |
|
Aminoaciduria, Failure to thrive, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Polyuria, ... |
OMIM:239200 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
| Renal Dysplasia |
|
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
| Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Aminoaciduria, Episodic ammonia intoxication, Hyperammonemia, Hypoargininemia |
ORPHA:147 |
| Granulomatous Slack Skin |
|
Acute kidney injury, Hypercalcemia, Nephrocalcinosis |
ORPHA:33111 |
| Carnitine Deficiency, Systemic Primary |
|
Decreased circulating carnitine concentration, Failure to thrive, Dicarboxylic aciduria, Hyperamm... |
OMIM:212140 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Hyperammonemia, Elevated cir... |
OMIM:609015 |
| Juvenile Nephropathic Cystinosis |
|
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Hypouricemi... |
ORPHA:411634 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca... |
OMIM:601198 |
| Relapsing Fever |
|
Epistaxis, Acute kidney injury, Abnormality of the urinary system, Hypotension, Abnormal bleeding... |
ORPHA:91547 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Failure to thrive in infancy, Hyperammonemia, Organic aciduria, Abnormal circulating leucine conc... |
ORPHA:6 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
| Fanconi Renotubular Syndrome 1 |
|
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... |
OMIM:134600 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Focal segmental glomerulosclerosis, Nephritis, Optic atrophy, Hypoalbuminemia, Recurrent pneumoni... |
OMIM:617303 |
| Maple Syrup Urine Disease, Type Ia |
|
Elevated circulating branched chain amino acid concentration, Increased level of hippuric acid in... |
OMIM:248600 |
| Renal Tubular Acidosis, Proximal |
|
Elevated circulating creatinine concentration, Hypercalciuria, Proximal renal tubular acidosis |
OMIM:179830 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Ketonuria, Dicarboxylic aciduria, Renal tubular acidosis, Hyperammonemia, Elevated circulating cr... |
OMIM:255120 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Homocystinuria, Failure to thrive, Methylmalonic aciduria, Hypomethioninemia, Lethargy, Hyperhomo... |
OMIM:250940 |
| Amelogenesis Imperfecta, Type Ig |
|
Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis |
OMIM:204690 |
| Primary Hyperoxaluria Type 3 |
|
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... |
ORPHA:93600 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hemolytic an... |
ORPHA:444463 |
| Nephronophthisis 18 |
|
Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Hyperte... |
OMIM:615862 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Hyper... |
OMIM:619902 |
| Deafness, Autosomal Recessive 108 |
|
Congenital sensorineural hearing impairment |
OMIM:617654 |
| Transcobalamin Deficiency |
|
Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Pancytopenia, Thrombocytopenia, Neutrop... |
ORPHA:859 |
| Deafness, Autosomal Dominant 58 |
|
Tinnitus, Sensorineural hearing impairment |
OMIM:615654 |
| Thyrocerebrorenal Syndrome |
|
Nephritis, Renal insufficiency, Sensorineural hearing impairment |
ORPHA:3327 |
| Arima Syndrome |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R... |
OMIM:243910 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde... |
ORPHA:158684 |
| Propionic Acidemia |
|
Hyperglycinuria, Increased level of hippuric acid in urine, Failure to thrive, Eczematoid dermati... |
OMIM:606054 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Congenital sensorineural hearing impairment, Elevated circulating creatinine concentration, Incre... |
OMIM:617872 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Lymphopenia |
OMIM:615401 |
| Megabladder, Congenital |
|
Hyperechogenic kidneys, Left ventricular noncompaction cardiomyopathy, Stage 5 chronic kidney dis... |
OMIM:618719 |
| Methylcobalamin Deficiency Type Cble |
|
Hearing impairment, Failure to thrive, Hypomethioninemia, Glomerulopathy, Lethargy, Hyperhomocyst... |
ORPHA:2169 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Nephropathy, Nephrotic syndrome, Proteinuria, Sensorineural hearing impairment |
ORPHA:1192 |
| Senior-Loken Syndrome |
|
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis, Hypertension |
ORPHA:3156 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Helix Syndrome |
|
Hypermagnesemia, Hypocalciuria, Renal insufficiency, Nephrolithiasis, Hypokalemia, Polyuria |
OMIM:617671 |
| Muckle-Wells Syndrome |
|
Renal amyloidosis, Progressive sensorineural hearing impairment, Hearing impairment, Recurrent ap... |
OMIM:191900 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Homocystinuria, Methylmalonic aciduria, Failure to thrive, Elevated circulating propionylcarnitin... |
OMIM:614857 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... |
OMIM:603552 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Deafness, Autosomal Dominant 41 |
|
Tinnitus, Progressive sensorineural hearing impairment |
OMIM:608224 |
| Hyperoxaluria, Primary, Type Ii |
|
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis |
OMIM:260000 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Hypocalciuria, Enuresis, Hypomagnesemia, Renal sodium wasting, Sensorineural hearing impairment, ... |
OMIM:612780 |
| Dent Disease 1 |
|
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... |
OMIM:300009 |
| Hypocomplementemic Urticarial Vasculitis |
|
Renal insufficiency, Episcleritis, Skin rash, Sensorineural hearing impairment, Hematuria, Protei... |
ORPHA:36412 |
| Glutamate Formiminotransferase Deficiency |
|
Aminoaciduria, Hypersegmentation of neutrophil nuclei, Positive ferric chloride test, Megaloblast... |
OMIM:229100 |
| Primary Hyperoxaluria Type 1 |
|
Nephrocalcinosis, Enuresis, Failure to thrive, Recurrent urinary tract infections, Decreased glom... |
ORPHA:93598 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Proteinuria, Hyperlipidemia, Failure to thrive, Abnormality of the kidney |
ORPHA:369 |
| Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morpholog... |
OMIM:614227 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Aminoaciduria, Lethargy, Failure to thrive |
OMIM:250620 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Decreased circulating carnitine concentration, Dicarboxylic aciduria, Exercise-induced myoglobinu... |
OMIM:201475 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly |
OMIM:618394 |
| Microphthalmia/Coloboma 10 |
|
Iris coloboma, Microcoria, Chorioretinal coloboma |
OMIM:616428 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... |
OMIM:617514 |
| Cockayne Syndrome Type 1 |
|
Optic atrophy, Hearing impairment, Failure to thrive, Renal insufficiency, Abnormality of periphe... |
ORPHA:90321 |
| Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Tinnitus, High-frequency hearing impairment, Bilateral sensorineural hearing impairment |
OMIM:605594 |
| Diffuse Alveolar Hemorrhage |
|
Hematuria, Proteinuria, Elevated circulating creatinine concentration, Weight loss |
ORPHA:90060 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Unilateral renal agenesis, Elevated circulating palmitoleylcarnitine concentration, Methylmalonic... |
ORPHA:79284 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology, Elevated circulating creatine kinase concentration |
ORPHA:101082 |
| Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Failure to thrive, Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicouret... |
OMIM:191800 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Papilledema, Hyper... |
OMIM:620366 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Hypert... |
OMIM:166300 |
| Bartter Syndrome, Type 2, Antenatal |
|
Nephrocalcinosis, Hyperchloriduria, Renal juxtaglomerular cell hypertrophy/hyperplasia, Increased... |
OMIM:241200 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, 2-ethylhydracylic aciduria |
OMIM:610006 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hypercalcemia, Hyperphosphatemia, Polyuria, Nephrolithiasis |
OMIM:617994 |
| Citrullinemia, Classic |
|
Failure to thrive, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Lethargy, Hypoargininemia, ... |
OMIM:215700 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Low-set ears, Renal dysplasia, Increased total bilirubin, Elevated circulating creatinine concent... |
OMIM:608836 |
| Hyperaldosteronism, Familial, Type Iii |
|
Hypokalemia, Hypercalciuria, Polyuria, Decreased circulating renin level |
OMIM:613677 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
| Primary Hyperoxaluria Type 2 |
|
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... |
ORPHA:93599 |
| Renal Coloboma Syndrome |
|
Renal hypoplasia, Multicystic kidney dysplasia, Hearing impairment, Optic disc coloboma, Vesicour... |
ORPHA:1475 |
| Laurence-Moon Syndrome |
|
Low-set, posteriorly rotated ears, Obesity, Renal insufficiency, Sensorineural hearing impairment... |
ORPHA:2377 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal hypoplasia, Hearing impairment, Renal insufficiency, Renal tubular acidosis, Renal cyst, Le... |
OMIM:614922 |
| Immunodeficiency 18 |
|
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... |
OMIM:615615 |
| Schimke Immunoosseous Dysplasia |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu... |
OMIM:242900 |
| Usher Syndrome, Type Iiia |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:276902 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Glycosuria, Large for gestational age, Hypophosphatemic rickets, Proteinuria, Increased body weig... |
ORPHA:263455 |
| Saccharopinuria |
|
Hyperlysinuria, Hypercystinemia, Hyperammonemia, Elevated plasma citrulline, Cystinuria, Hyperlys... |
ORPHA:3124 |
| Deafness And Myopia |
|
Sensorineural hearing impairment |
OMIM:221200 |
| Small Cell Carcinoma Of The Bladder |
|
Hematuria, Hypercalcemia, Dysuria, Recurrent urinary tract infections |
ORPHA:284400 |
| Renal Cysts And Diabetes Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Elevated circulating creatinine concentr... |
OMIM:137920 |
| Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
| Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Sensorineural hearing impairment |
ORPHA:2027 |
| Idiopathic Pulmonary Hemosiderosis |
|
Glomerulonephritis, Failure to thrive |
ORPHA:99931 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Gout, ... |
OMIM:618061 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Methylmalonic Aciduria, Cblb Type |
|
Ketonuria, Methylmalonic aciduria, Failure to thrive, Elevated circulating propionylcarnitine con... |
OMIM:251110 |
| Exfoliation Syndrome |
|
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... |
OMIM:177650 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczematoid dermatitis, Failure to thrive, Hepatitis, Erythroderma, Glomerulonephritis, Arthritis |
OMIM:304790 |
| Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Chronic kidney disease, Acute kidney injury, Hypertrophic cardiomyopathy, Exercise-induced myoglo... |
ORPHA:368 |
| Cataract-Ataxia-Deafness Syndrome |
|
Decreased nerve conduction velocity, Adult onset sensorineural hearing impairment, Sensorineural ... |
ORPHA:1368 |
| Methylmalonic Aciduria, Cbla Type |
|
Ketonuria, Methylmalonic aciduria, Failure to thrive, Hyperglycinemia, Hyperammonemia, Elevated u... |
OMIM:251100 |
| Meningococcal Meningitis |
|
Hearing impairment, Renal insufficiency, Skin rash, Infectious encephalitis, Lethargy, Papilledem... |
ORPHA:33475 |
| Familial Isolated Hyperparathyroidism |
|
Nephrocalcinosis, Renal insufficiency, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Hyper... |
ORPHA:99879 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product... |
OMIM:613673 |
| Familial Hypoaldosteronism |
|
Failure to thrive, Hyponatremia, Decreased urinary potassium, Lethargy, Orthostatic hypotension, ... |
ORPHA:427 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
| Immunodeficiency 105 |
|
Reduced natural killer cell count, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired lympho... |
OMIM:619924 |
| Heme Oxygenase 1 Deficiency |
|
Nephritis, Increased circulating ferritin concentration, Hematuria, Chemosis, Proteinuria, Elevat... |
OMIM:614034 |
| Glycogen Storage Disease Vii |
|
Increased total bilirubin, Exercise-induced myoglobinuria, Gout, Hyperuricemia, Elevated circulat... |
OMIM:232800 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Lethargy, Transient hyperlipidemia, Renal tubular acidosis |
ORPHA:156 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Nephropathy, Homocystinuria, Acute kidney injury, Low-set ears, Cystathioninemia, Methylmalonic a... |
OMIM:277400 |
| Orthostatic Hypotension 1 |
|
Hypomagnesemia, Increased blood urea nitrogen, Orthostatic hypotension, Nocturia, Elevated circul... |
OMIM:223360 |
| Gitelman Syndrome |
|
Hypocalciuria, Enuresis, Renal magnesium wasting, Failure to thrive, Hypomagnesemia, Hypokalemia,... |
OMIM:263800 |
| X-Linked Spinocerebellar Ataxia Type 3 |
|
Optic atrophy, Sensorineural hearing impairment |
ORPHA:85297 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Elevated circulating creatinine concentration, Myoglobinuria, 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 |
|
Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Failure to thrive, Chronic ... |
OMIM:102700 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Oliguria, Decreased circulating carnitine conce... |
ORPHA:159 |
| Joubert Syndrome 35 |
|
Renal fibrosis, Low-set ears, Multicystic kidney dysplasia, Recurrent urinary tract infections, H... |
OMIM:618161 |
| Hemochromatosis, Type 3 |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Lymphopen... |
OMIM:604250 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hyperglycinuria, Decreased circulating carnitine concentration, Medium chain dicarboxylic aciduri... |
OMIM:201450 |
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Failure to thrive, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Low plasma citrulline, Leth... |
OMIM:311250 |
| Cryoglobulinemic Vasculitis |
|
Vasculitis, Gastrointestinal hemorrhage, Renal insufficiency, Petechiae, Hematuria, Proteinuria, ... |
ORPHA:91138 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... |
ORPHA:75564 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology |
OMIM:615214 |
| Postinfectious Vasculitis |
|
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Elevated haptoglobin lev... |
ORPHA:48435 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... |
ORPHA:37042 |
| Citrullinemia Type Ii |
|
Hypoalbuminemia, Mania, Enuresis, Decreased body mass index, Decreased HDL cholesterol concentrat... |
ORPHA:247585 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Orthostatic syncope, Elevated urinary dopamine level, Abnormal EKG, Elevated circulating creatini... |
ORPHA:230 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Chronic kidney disease, Facial telangiectasia in butterfly midface distribution, Renal insufficie... |
OMIM:137940 |
| Goodpasture Syndrome |
|
Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein... |
OMIM:233450 |
| Hereditary Mucoepithelial Dysplasia |
|
Hematuria, Cataract, Abnormality of the bladder, Corneal dystrophy |
ORPHA:1839 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity |
ORPHA:1067 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Failu... |
ORPHA:71212 |
| Birk-Landau-Perez Syndrome |
|
Optic atrophy, Renal hypoplasia, Progressive sensorineural hearing impairment, Hyperechogenic kid... |
OMIM:617595 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia |
ORPHA:169079 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Nephropathy, Proteinuria, Hematuria, Corneal opacity |
ORPHA:1765 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-... |
OMIM:620481 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Failure... |
OMIM:227810 |
| Cocaine Intoxication |
|
Acute kidney injury, Diffuse alveolar hemorrhage, Hypotension, Ventricular arrhythmia, Prolonged ... |
ORPHA:90068 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Focal segmental glomerulosclerosis, Hypoalbuminemia, Decreased glomerular filtration rate, Renal ... |
OMIM:614748 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, EEG with generalized epileptiform discharges, ... |
ORPHA:35878 |
| Cystinosis |
|
Nephropathy, Aminoaciduria, Failure to thrive, Renal insufficiency, Renal tubular dysfunction, Pr... |
ORPHA:213 |
| Refractory Anemia |
|
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... |
ORPHA:98826 |
| Genetic Recurrent Myoglobinuria |
|
Acute kidney injury, Oliguria, Hyperphosphatemia, Exercise-induced myoglobinuria, Dark urine, Ren... |
ORPHA:99845 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Small for gestational age, Failure to thrive, Congenital sensorineural hearing impairment, Renal ... |
OMIM:619147 |
| Glucose-Galactose Malabsorption |
|
Failure to thrive, Renal insufficiency, Nephrolithiasis, Hematuria, Weight loss, Hypercalcemia, H... |
ORPHA:35710 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
| Teratoma, Pineal |
|
Polyuria |
OMIM:273120 |
| Holocarboxylase Synthetase Deficiency |
|
Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, Hyperammonemia, Skin rash, Leth... |
OMIM:253270 |
| Acquired Ichthyosis |
|
Recurrent skin infections, Renal insufficiency |
ORPHA:454 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Hyperechogenic kidneys, Elevated circulating creatinine concentration, Reduced haptoglobin level,... |
OMIM:301110 |
| Ochoa Syndrome |
|
Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie... |
ORPHA:2704 |
| Mohr-Tranebjaerg Syndrome |
|
Abnormal vestibular function, Optic atrophy, Prelingual sensorineural hearing impairment, Abnorma... |
ORPHA:52368 |
| Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Glomerular bas... |
OMIM:609057 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Hypotension, Elevated circulating creatinine concentration, Reduced left ven... |
ORPHA:542323 |
| Corneal Dystrophy And Perceptive Deafness |
|
Sensorineural hearing impairment |
OMIM:217400 |
| Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement |
|
Vestibular areflexia, Sensorineural hearing impairment |
OMIM:609006 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Chronic kidney disease, Decreased circulating iron concentration, Acute kidney injury, Glycosuria... |
ORPHA:447 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Red-brown urine, Cardiomyopathy, Decreased plas... |
ORPHA:157 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Proteinuria, Nephrotic syndrome, Mucopolysacchariduria, Small for gestational age |
OMIM:215250 |
| Developmental And Epileptic Encephalopathy 40 |
|
Lethargy, Hypsarrhythmia, Small for gestational age |
OMIM:617065 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Sensorineural hearing impairment |
OMIM:221700 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Red-brown urine, Cardiomyopathy, Dicarboxylic a... |
ORPHA:228308 |
| Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology, Elevated circulating creatine kinase concentration |
OMIM:160565 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Moderate albuminuria, Ketonuria, Glycosuria, Hearing impairment, Failure to thrive, Renal tubular... |
ORPHA:99885 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... |
OMIM:300554 |
| Argininosuccinic Aciduria |
|
Aminoaciduria, Failure to thrive, Oroticaciduria, Hyperammonemia, Increased circulating argininos... |
OMIM:207900 |
| Xanthinuria, Type I |
|
Hypouricemia, Pyelonephritis, Xanthine nephrolithiasis, Hydronephrosis, Xanthinuria, Hyperxanthin... |
OMIM:278300 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Low-set ears, Homocystinuria, Cystathioninemia, Methylmalonic aciduria, Cystathioninuria, Elevate... |
OMIM:277380 |
| Iridocorneal Endothelial Syndrome |
|
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... |
ORPHA:64734 |
| Methylmalonic Acidemia With Homocystinuria |
|
Skin rash, Lethargy, Failure to thrive |
ORPHA:26 |
| Rhabdoid Tumor |
|
Hematuria, Hypercalcemia, Renal neoplasm |
ORPHA:69077 |
| Lymphatic Filariasis |
|
Urethral obstruction, Lymphadenitis, Orchitis, Hematuria, Proteinuria, Knee osteoarthritis, Glome... |
ORPHA:2035 |
| Glutathione Synthetase Deficiency |
|
Increased level of L-pyroglutamic acid in urine, Hemolytic anemia, Neutropenia |
OMIM:266130 |
| Cystic Echinococcosis |
|
Renal cyst, Hyperbilirubinemia, Membranous nephropathy, Weight loss |
ORPHA:400 |
| Isovaleric Acidemia |
|
Hyperglycinuria, Lethargy, Elevated urinary isovalerylglycine level |
OMIM:243500 |
| Bor Syndrome |
|
Multicystic kidney dysplasia, Hearing impairment, Atresia of the external auditory canal, Stenosi... |
ORPHA:107 |
| Immunodeficiency 76 |
|
Lymphopenia, T lymphocytopenia, Splenomegaly, B lymphocytopenia |
OMIM:619164 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Lymphadenitis, Increased circulating ferritin concentration, Proteinuria, Ce... |
OMIM:618886 |
| Scrub Typhus |
|
Renal insufficiency, Skin rash, Infectious encephalitis, Lethargy, Myocarditis, Anterior uveitis |
ORPHA:83317 |
| Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia, Renal insufficiency, Renal hypoplasia/aplasia |
ORPHA:2123 |
| Fanconi Anemia, Complementation Group G |
|
Leukemia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:614082 |
| Alg1-Cdg |
|
Hypoalbuminemia, Nephrotic syndrome, Renal insufficiency, Abnormality of the kidney |
ORPHA:79327 |
| Jeune Syndrome |
|
Nephropathy, Nephronophthisis, Renal insufficiency |
ORPHA:474 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Homocystinuria, Methylmalonic aciduria, Hypomethioninemia, Lethargy, Hyperhomocystinemia, Methylm... |
OMIM:277410 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Predominantly dermal... |
ORPHA:284426 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Periodontitis, Obesity, Sensorineural hearing impairment, Hydronephrosis |
OMIM:619269 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia, Low-set ears |
OMIM:617661 |
| Hypomagnesemia 2, Renal |
|
Hypocalciuria, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, Hypokalemia |
OMIM:154020 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Nephropathy, Chronic kidney disease, Cataract, Anterior lenticonus, Keratitis, Aspiration pneumon... |
ORPHA:1018 |
| Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... |
OMIM:600501 |
| Free Sialic Acid Storage Disease |
|
Proteinuria, Nephrotic syndrome, Failure to thrive in infancy |
ORPHA:834 |
| Biotinidase Deficiency |
|
Optic atrophy, Organic aciduria, Hyperammonemia, Skin rash, Sensorineural hearing impairment, Let... |
OMIM:253260 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... |
OMIM:225200 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Failure to thrive |
ORPHA:79283 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Acute kidney injury, Myoglobinuria, Arrhythmia, Hyperkalemia, Elevated creatine kinase after exer... |
ORPHA:57 |
| Melas |
|
Nephropathy, Focal segmental glomerulosclerosis, Optic atrophy, Proximal tubulopathy, Depression,... |
ORPHA:550 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,... |
OMIM:171420 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
| Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Failure to thrive |
ORPHA:622 |
| Thymoma |
|
Rheumatoid arthritis, Myositis, Weight loss, Glomerulonephritis, Ulcerative colitis |
ORPHA:99867 |
| Deafness-Vitiligo-Achalasia Syndrome |
|
EEG abnormality, Sensorineural hearing impairment |
ORPHA:3239 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Low-set ears, Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Polyuria, Hypertriglyc... |
OMIM:618183 |
| Primary Fanconi Renotubular Syndrome |
|
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Hypouricemia, Decreas... |
ORPHA:3337 |
| Apparent Mineralocorticoid Excess |
|
Nephrocalcinosis, Failure to thrive, Renal insufficiency, Decreased circulating renin level, Hypo... |
ORPHA:320 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Recurrent urin... |
OMIM:248190 |
| Immunodeficiency 32B |
|
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopeni... |
OMIM:226990 |
| Immunodeficiency 23 |
|
Allergic rhinitis, Conductive hearing impairment, Failure to thrive, Eczematoid dermatitis, Chron... |
OMIM:615816 |
| Glut1 Deficiency Syndrome 1 |
|
Paroxysmal lethargy, Lethargy, EEG abnormality |
OMIM:606777 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypocalciuria, Depression, Multiple small medullary renal cysts, Renal insuffici... |
OMIM:600740 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Hyperbilirubinemia, Renal insufficiency |
ORPHA:713 |
| Distal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Failure to thrive, Low-molecular-weight pr... |
ORPHA:18 |
| Mu-Heavy Chain Disease |
|
Nephropathy, Bence Jones Proteinuria, Weight loss |
ORPHA:100024 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... |
OMIM:308240 |
| Majeed Syndrome |
|
Acne, Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Proteinuria, Synovi... |
ORPHA:77297 |
| Early Myoclonic Encephalopathy |
|
Lethargy, Hypsarrhythmia, EEG abnormality |
ORPHA:1935 |
| Usher Syndrome, Type Ie |
|
Congenital sensorineural hearing impairment, Vestibular areflexia |
OMIM:602097 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Chronic kidney disease, Failure to thrive in infancy, Decreased glomerular filtration rate, Senso... |
ORPHA:488627 |
| Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Proteinuria, Renal artery stenosis, Sensorineural hearing impairment |
OMIM:209010 |
| Cholera |
|
Acute kidney injury, Aspiration pneumonia, Abnormal blood ion concentration, Hypocalcemia, Hypoka... |
ORPHA:173 |
| Pediatric Systemic Lupus Erythematosus |
|
Discoid lupus rash, Nephritis, Abnormality of the urinary system, Dark urine, Renal insufficiency... |
ORPHA:93552 |
| Middle Ear Neuroendocrine Tumor |
|
Abnormal tympanic membrane morphology, Unilateral conductive hearing impairment, Sensorineural he... |
ORPHA:100084 |
| Nephrogenic Diabetes Insipidus |
|
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Failure to thrive, Renal i... |
ORPHA:223 |
| Hereditary Fructose Intolerance |
|
Chronic kidney disease, Hypermagnesemia, Renal insufficiency, Hyperuricemia, Lethargy, Hypophosph... |
ORPHA:469 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia, Dicarboxylic aciduria |
OMIM:212138 |
| Coach Syndrome 2 |
|
Elevated circulating creatinine concentration, Hypertension, Hyperechogenic kidneys |
OMIM:619111 |
| Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Sideroblastic anemia, Hydronephrosis, Megaloblastic anemia, Neutropenia, Thrombocyto... |
OMIM:598500 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Exercise-induced myoglobinuria, Renal insufficiency |
OMIM:300653 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Hyperammonemia, Mitral regurgitatio... |
OMIM:620300 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... |
OMIM:610805 |
| Glanzmann Thrombasthenia |
|
Macroscopic hematuria |
ORPHA:849 |
| Disabling Pansclerotic Morphea Of Childhood |
|
Elevated circulating C-reactive protein concentration, Lymphopenia, Neutropenia |
OMIM:620443 |
| Immunodeficiency 95 |
|
Lymphopenia |
OMIM:619773 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment |
OMIM:617519 |
| Wild Type Attr Amyloidosis |
|
Nephropathy, Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnorm... |
ORPHA:330001 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Chronic kidney disease, Renal amyloidosis, Abnormality of the urinary system, IgA deposition in t... |
ORPHA:79408 |
| Nephroblastoma |
|
Hematuria, Aniridia, Nephroblastoma |
ORPHA:654 |
| Myoglobinuria, Recurrent |
|
Exercise-induced myoglobinuria, Recurrent myoglobinuria |
OMIM:550500 |
| Relapsing Polychondritis |
|
Cataract, Uveitis, Keratitis, Hepatitis, Vertigo, Recurrent aphthous stomatitis, Chondritis, Rena... |
ORPHA:728 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... |
OMIM:617780 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal hypoplasia, Conductive hearing impairment, Low-set, posteriorly rotated ears, Renal insuffi... |
ORPHA:1307 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... |
OMIM:601455 |
| Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Failure to thrive, Recurrent urinary tract infections,... |
ORPHA:2970 |
| Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Failure to thrive, Hyperbilirubinemia,... |
OMIM:229600 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Recurrent sinusitis, Tubulointerstitial ... |
OMIM:607944 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria, Cachexia |
ORPHA:2774 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Scleritis, Weight loss, Tubulointerstitial nephritis, Elevated circulating C-reactive protein con... |
ORPHA:91500 |
| Propionic Acidemia |
|
Hyperammonemia, Organic aciduria |
ORPHA:35 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hypotension, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Myoglobinuria... |
OMIM:145600 |
| Developmental And Epileptic Encephalopathy 92 |
|
Lethargy, EEG abnormality |
OMIM:617829 |
| Alagille Syndrome 1 |
|
Focal segmental glomerulosclerosis, Low-set ears, Renal hypoplasia, Failure to thrive, Multiple s... |
OMIM:118450 |
| Legionnaires Disease |
|
Hepatitis, Renal insufficiency, Infectious encephalitis, Hematuria, Proteinuria, Hyponatremia, Pa... |
ORPHA:549 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... |
OMIM:122000 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Systemic Lupus Erythematosus |
|
Discoid lupus rash, Depression, Malar rash, Hematuria, Proteinuria, Weight loss, Lupus nephritis,... |
ORPHA:536 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Aminoaciduria, Optic atrophy, Glycosuria, Failure to thrive, Hyperphosphaturia, Renal tubular dys... |
ORPHA:436271 |
| Papa Syndrome |
|
Crohn's disease, Proteinuria, Increased inflammatory response, Myositis, Pustule, Arthritis, Acne |
ORPHA:69126 |
| Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Cataract, Recurrent pneumonia, Hearing impairment, Chronic mucocutaneous candidiasis, ... |
OMIM:158310 |
| Immunodeficiency 46 |
|
Anemia, Conjunctivitis, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Hypoproteinemia, Chorioretinal coloboma |
ORPHA:1116 |
| Amyloidosis, Finnish Type |
|
Cardiomyopathy, Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Decreased hear... |
OMIM:105120 |
| Microscopic Polyangiitis |
|
Uveitis, Oliguria, Renal insufficiency, Episcleritis, Skin rash, Hematuria, Increased inflammator... |
ORPHA:727 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Lethargy, EEG abnormality, Herpes simplex encephalitis |
OMIM:617900 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Aortic regurgitation, Subcutaneous hemorrhage, Pulmonary hemorrhage, Proteinuria |
OMIM:603585 |
| Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
| Usher Syndrome Type 3 |
|
Iris hypopigmentation, Cataract, Vestibular hypofunction, Astigmatism, Sensorineural hearing impa... |
ORPHA:231183 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
3-Methylglutaric aciduria, Ketonuria, Hyperammonemia, Hyperuricemia, Lethargy, Weight loss, Hypsa... |
ORPHA:20 |
| Fabry Disease |
|
Nephropathy, Cataract, Hearing impairment, Abnormal circulating lipid concentration, Vertigo, Ren... |
ORPHA:324 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Low-set ears, Optic atrophy, Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylc... |
ORPHA:79282 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Unilateral renal agenesis, Renal insufficiency |
ORPHA:281090 |
| Isolated Complex I Deficiency |
|
Proximal tubulopathy, Failure to thrive, Sensorineural hearing impairment, Lethargy, Optic disc p... |
ORPHA:2609 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Hypertension, Polycystic kidney dysplasia, Renal insufficiency, Mitral regurgitation |
OMIM:173900 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:617992 |
| Becker Muscular Dystrophy |
|
Myoglobinuria, Abnormal urinary color, Elevated circulating creatine kinase concentration |
ORPHA:98895 |
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Optic atrophy, Failure to thrive, Hyperammonemia, 3-Methylglutaconic aciduria, Sensorineural hear... |
OMIM:614739 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Temporal op... |
ORPHA:1215 |
| Beta-Thalassemia |
|
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Thrombocytopenia, Anemia, Abn... |
ORPHA:848 |
| Immunodeficiency 13 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... |
OMIM:615518 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Vasculitis, Recurrent intrapulmonary hemorrhage, Hypertrophic cardiomyopathy, Congestive heart fa... |
ORPHA:183 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Pterygium, Renal duplication, ... |
ORPHA:79403 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia |
OMIM:612527 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Absent circulating B cells, Neutropenia, Abnormal T cell morphology |
OMIM:613501 |
| Gitelman Syndrome |
|
Urinary incontinence, Ventricular fibrillation, Tubulointerstitial nephritis, Prolonged PR interv... |
ORPHA:358 |
| Orthostatic Hypotension 2 |
|
Decreased glomerular filtration rate, Orthostatic hypotension |
OMIM:618182 |
| Babesiosis |
|
Depression, Renal insufficiency |
ORPHA:108 |
| Biotinidase Deficiency |
|
Optic atrophy, Organic aciduria, Hearing impairment, Eczematoid dermatitis, Hyperammonemia, Skin ... |
ORPHA:79241 |
| Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Failure to thrive, Hyperammonemia, Lethargy, Low plasma citrulline, Hypoargininemia, Episodic amm... |
OMIM:237300 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... |
OMIM:619802 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Low-set ears, Hearing impairment, Urolithiasis, Renal insufficiency, Gout, Hyperuricemia, Sensori... |
OMIM:300661 |
| Cirrhosis, Familial |
|
Increased level of L-fucose in urine, Lethargy, Fulminant hepatitis, Increased level of propylene... |
OMIM:215600 |
| Immunodeficiency 112 |
|
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... |
OMIM:620449 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy, EEG abnormality, Herpes simplex encephalitis |
OMIM:613002 |
| Brucellosis |
|
Arteritis, Sacroiliac arthritis, Knee osteoarthritis, Weight loss, Glomerulonephritis, Elevated c... |
ORPHA:1304 |
| Ziegler-Huang Syndrome |
|
Micropenis, Neutropenia, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:620501 |
| Multiple Myeloma |
|
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Weight loss, Nep... |
ORPHA:29073 |
| Pgm3-Cdg |
|
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Bronchiectasis, Mild neurosensory hear... |
ORPHA:443811 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Failure to thrive, Hyperammonemia, Acute hyperammonemia, Hyperglutaminemia, Lethargy, Hyperalanin... |
ORPHA:927 |
| Renal Agenesis |
|
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... |
ORPHA:411709 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Lymphopenia, Hemolytic anemia, Thrombocytopenia, Anterior uveitis |
OMIM:616744 |
| Amme Complex |
|
Hematuria, Astigmatism, Sensorineural hearing impairment |
OMIM:300194 |
| Liddle Syndrome 1 |
|
Hypokalemia, Hypertension, Renal insufficiency, Decreased circulating renin level |
OMIM:177200 |
| Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Exercise-induced myoglobinuria, Highly elevated creatine kinase |
ORPHA:352479 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Optic atrophy, Large earlobe, Renal insufficiency, Proteinuria, Glomerulopathy, Macrotia |
ORPHA:2715 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617243 |
| Nephrolithiasis, Calcium Oxalate, 1 |
|
Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr... |
OMIM:167030 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Hearing impairment, Renal insufficiency, Proteinuria, Glomerulopathy, Microscopic hematuria |
ORPHA:86818 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Hyperbilirubinemia, Lethargy, 4-Hydroxyph... |
OMIM:617156 |
| Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Hypersegmentation of neutrophil nuclei, Folate-resp... |
OMIM:601775 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Lethargy, Increased serum pyruvate, Hyperalaninemia, Small for gestational age |
OMIM:312170 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Sensorineural hearing impairment |
ORPHA:3225 |
| Pseudo-Torch Syndrome 2 |
|
Lethargy, Abnormal renal corticomedullary differentiation |
OMIM:617397 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Aminoaciduria, Optic atrophy, Glycosuria, Failure to thrive, Hyperphosphaturia, Renal tubular dys... |
OMIM:220110 |
| Systemic Capillary Leak Syndrome |
|
Oliguria, Renal insufficiency, Abnormal renal tubule morphology, Pancreatitis, Weight loss, Myoca... |
ORPHA:188 |
| Immune Thrombocytopenia |
|
Hematuria |
ORPHA:3002 |
| Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Lymphopenia |
OMIM:152800 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
| Bartter Syndrome Type 4 |
|
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Small for gestational age, Failure... |
ORPHA:89938 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Hypohomocysteinemia, Failure to thrive, Hypocystinemia, Decreased serum creatinine, Recurrent ski... |
OMIM:617744 |
| Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Myoglobinuria, Cardiomyopathy, Elevated circulating creatine kinase concentration |
ORPHA:119 |
| Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy, EEG abnormality, Sinusitis |
ORPHA:163703 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Acute kidney injury, Multicystic kidney dysplasia, Hearing impairment, Renal agenesis, Horseshoe ... |
ORPHA:93111 |
| Pendred Syndrome |
|
Nephropathy, Vertigo, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Abnormality... |
ORPHA:705 |
| Pheochromocytoma |
|
Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,... |
OMIM:171300 |
| Branchiootorenal Syndrome 1 |
|
Unilateral renal agenesis, Dilatated internal auditory canal, Cupped ear, Conductive hearing impa... |
OMIM:113650 |
| Rhyns Syndrome |
|
Chronic kidney disease, Nephronophthisis, Conductive hearing impairment, Renal insufficiency, Sen... |
OMIM:602152 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, D... |
OMIM:619846 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Homocystinuria, Optic atrophy, Cystathioninemia, Failure to thrive, Hypomethioninemia, Lethargy, ... |
ORPHA:395 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hypokalemia, Hyponatr... |
ORPHA:90038 |
| Nephronophthisis 19 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid... |
OMIM:616217 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Recurrent pneumonia, Small for gestational age, Failure to thrive, Hypocalcemia, Sensorineural he... |
OMIM:607143 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Low-set ears, Renal cyst, Elevated circulating creatinine concentration, Renal insufficiency |
OMIM:617478 |
| Argininosuccinic Aciduria |
|
Aminoaciduria, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, EEG abnormality, Hypoargininemia |
ORPHA:23 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Nephropathy, Obesity, Renal insufficiency, Nephroblastoma, Hypospadias |
OMIM:194072 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia, Hypoproteinemia |
OMIM:207731 |
| Granulomatosis With Polyangiitis |
|
Ureteral stenosis, Renal insufficiency, Otitis media, Skin rash, Sensorineural hearing impairment... |
ORPHA:900 |
| Diamond-Blackfan Anemia 8 |
|
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
OMIM:612563 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... |
ORPHA:158057 |
| Cardiogenic Shock |
|
Hypotension, Oliguria, Right ventricular failure, Abnormal left ventricular function, Congestive ... |
ORPHA:97292 |
| Primary Hyperoxaluria |
|
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Stage 5 chronic kid... |
ORPHA:416 |
| Corneal Dystrophy, Posterior Amorphous |
|
Iris coloboma, Corneal dystrophy, Ectopia pupillae |
OMIM:612868 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Hematuria, Bilateral sensorineural hearing impairment |
ORPHA:853 |
| Xfe Progeroid Syndrome |
|
Hypoalbuminemia, Optic atrophy, Hearing impairment, Failure to thrive, Renal insufficiency, Prote... |
OMIM:610965 |
| Neuraminidase Deficiency |
|
Cataract, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialopepti... |
OMIM:256550 |
| Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis, Obesity |
OMIM:616629 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Hematuria, Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
| Gaba-Transaminase Deficiency |
|
EEG with burst suppression, Lethargy |
OMIM:613163 |
| Osteootohepatoenteric Syndrome |
|
Hearing impairment, Failure to thrive, Increased serum bile acid concentration, Grade II vesicour... |
OMIM:619377 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... |
ORPHA:169154 |
| Senior-Boichis Syndrome |
|
Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Increased t... |
ORPHA:84081 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Lethargy, Increased serum pyruvate |
OMIM:246900 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... |
OMIM:601596 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Minimal change glomerulonephritis, Hepatitis, Eczematoid dermatitis, Myositis, Elevated circulati... |
OMIM:620565 |
| Usher Syndrome Type 1 |
|
Iris hypopigmentation, Cataract, Vestibular hypofunction, Sensorineural hearing impairment, Abnor... |
ORPHA:231169 |
| Fabry Disease |
|
Lipiduria, Congestive heart failure, Transient ischemic attack, Renal insufficiency, Proteinuria,... |
OMIM:301500 |
| Snakebite Envenomation |
|
Gingival bleeding, Epistaxis, Acute kidney injury, Hypotension, Abnormal bleeding, Cardiogenic sh... |
ORPHA:449285 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... |
ORPHA:98973 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis |
OMIM:619281 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Lentiglobus, Periodontitis, Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Chronic... |
ORPHA:534 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hyperprolinemia, Lethargy, Failure to thrive in infancy, Hyperalaninemia |
OMIM:619064 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating acylcarnitine concentration, Red-brown urine, Cardiomyopathy, Decreased plas... |
ORPHA:228305 |
| Hypouricemia, Renal, 2 |
|
Hypouricemia, Nephrolithiasis |
OMIM:612076 |
| Citrullinemia Type I |
|
Lethargy, Elevated plasma citrulline, Hyperammonemia, Failure to thrive |
ORPHA:247525 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Large for gestational age, Lethargy, Increased C-peptide level, Small for gestational age, Decrea... |
ORPHA:324575 |
| Generalized Pustular Psoriasis |
|
Hypoalbuminemia, Cheilitis, Obesity, Renal insufficiency, Hypocalcemia, Palmoplantar pustulosis, ... |
ORPHA:247353 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Lethargy, EEG abnormality |
ORPHA:71277 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Low-set ears, Hypotriglyceridemia, Conductive hearing impairment, Decreased serum creatinine, Dec... |
OMIM:618885 |
| Alpha-Thalassemia |
|
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... |
ORPHA:846 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Failure to thrive, Hepatitis, Oroticaciduria, Abnormal circulating citrulline concentration, Hype... |
ORPHA:415 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Renal corticomedullary cysts, Renal insufficiency, Tubular luminal dilatation, Hyperechogenic kid... |
OMIM:219730 |
| N-Acetylglutamate Synthase Deficiency |
|
Failure to thrive, Hyperammonemia, Hyperglutamatemia, Hyperglutaminemia, Low plasma citrulline, H... |
OMIM:237310 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Low-set ears, Unilateral renal agenesis, Renal hypoplasia, Hypoplastic helices, Hearing impairmen... |
OMIM:617641 |
| Nail-Patella Syndrome |
|
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Renal insuffic... |
ORPHA:2614 |
| Glycogen Storage Disease Ixd |
|
Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:300559 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Lethargy, Increased serum pyruvate |
OMIM:618225 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy |
OMIM:613710 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Lethargy, Increased urinary glycerol |
OMIM:229700 |
| Griscelli Syndrome Type 2 |
|
Iris hypopigmentation, Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Neutropenia,... |
ORPHA:79477 |
| Ruvalcaba Syndrome |
|
Hematuria, Abnormal localization of kidney |
ORPHA:3121 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
| Hemochromatosis, Type 2A |
|
Lethargy, Increased circulating iron concentration, Arthritis, Increased circulating ferritin con... |
OMIM:602390 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Low-set ears, Hypospadias, Abnormal helix morphology, Optic atrophy, Hearing impairment, Failure ... |
OMIM:614866 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Hematuria, Hypoalbuminemia |
OMIM:617021 |
| Donnai-Barrow Syndrome |
|
Proteinuria, Iris coloboma, Posteriorly rotated ears, Sensorineural hearing impairment |
ORPHA:2143 |
| Transcobalamin Ii Deficiency |
|
Lethargy, Hyperhomocystinemia, Methylmalonic aciduria, Failure to thrive |
OMIM:275350 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Lethargy |
OMIM:618224 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Low-set ears, Lethargy, Small for gestational age |
OMIM:610498 |
| Wolcott-Rallison Syndrome |
|
Chronic kidney disease, Hypoalbuminemia, Hyperbilirubinemia, Renal insufficiency, Hyperammonemia,... |
ORPHA:1667 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Low-set ears, Renal hypoplasia, Renal insufficiency, Sensorineural hearing impairment, Hypoplasia... |
ORPHA:85321 |
| Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis |
ORPHA:2688 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Punctate vasculitis skin lesions, Hematuria, Proteinuria, Telangiect... |
OMIM:192315 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Lethargy, Large for gestational age, Increased C-peptide level, Decreased circulating free fatty ... |
ORPHA:276556 |
| Galloway-Mowat Syndrome |
|
Nephropathy, Hypoplasia of the ear cartilage, Proteinuria, EEG abnormality, Nephrotic syndrome, M... |
ORPHA:2065 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Elevated circulating C-reactive protein concentration, Abnormality of the kidney, ... |
ORPHA:54251 |
| Giant Cell Arteritis |
|
Conductive hearing impairment, Hearing impairment, Vertigo, Renal insufficiency, Hematuria, Arthr... |
ORPHA:397 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Hepatitis, Renal insufficiency, Skin rash, Interstitial pneumonitis, Infectious encephalitis, Pus... |
ORPHA:139402 |
| Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss |
|
Sensorineural hearing impairment |
OMIM:267300 |
| Ddost-Cdg |
|
Nephrotic range proteinuria, Failure to thrive |
ORPHA:300536 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Hepatomegaly, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Optic disc pallor, Lethargy, Optic atrophy, Failure to thrive |
OMIM:618228 |
| Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hyperammonemia |
ORPHA:664 |
| Bardet-Biedl Syndrome 9 |
|
Obesity, Renal insufficiency, Truncal obesity |
OMIM:615986 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae |
OMIM:609141 |
| Björnstad Syndrome |
|
Sensorineural hearing impairment |
ORPHA:123 |
| Usher Syndrome, Type Ig |
|
Abnormal vestibular function, Sensorineural hearing impairment |
OMIM:606943 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Abnormality of iron homeostasis, Elevated transferrin saturation, Lethargy, Increased circulating... |
ORPHA:79230 |
| Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron... |
OMIM:613159 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Lethargy, Large for gestational age, Increased C-peptide level, Decreased circulating free fatty ... |
ORPHA:276575 |
| Immunodeficiency 114, Folate-Responsive |
|
Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th... |
OMIM:620603 |
| Hyperoxaluria, Primary, Type I |
|
Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Elevated urinary glycolic acid l... |
OMIM:259900 |
| Primary Sjögren Syndrome |
|
Depression, Arteritis, Parotitis, Chronic active hepatitis, Chronic hepatitis, Renal insufficienc... |
ORPHA:289390 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Lethargy, Failure to thrive, Ethylmalonic aciduria |
OMIM:201470 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... |
OMIM:300946 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... |
OMIM:300835 |
| Atresia Of Urethra |
|
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... |
ORPHA:105 |
| Klippel-Trénaunay Syndrome |
|
Hematuria |
ORPHA:90308 |
| Malakoplakia |
|
Inflammatory abnormality of the skin, Urinary bladder inflammation, Urinary hesitancy, Skin rash,... |
ORPHA:556 |
| Ethylene Glycol Poisoning |
|
Renal insufficiency, Hypocalcemia, Renal tubular dysfunction, Hematuria, Gastritis, Decreased uri... |
ORPHA:31826 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm... |
OMIM:150550 |
| Lymphedema-Distichiasis Syndrome |
|
Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Arrhythmia, T... |
ORPHA:33001 |
| Gapo Syndrome |
|
Tubulointerstitial fibrosis |
OMIM:230740 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
| Renal Hypodysplasia/Aplasia 1 |
|
Proteinuria, Hypertension, Bilateral renal agenesis, Renal dysplasia |
OMIM:191830 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria, Hyperbilirubinemia |
OMIM:266120 |
| Perrault Syndrome 2 |
|
Sensorineural hearing impairment |
OMIM:614926 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Low-set ears, Moderate albuminuria, Failure to thrive, Recurrent otitis media, Membranoproliferat... |
OMIM:619525 |
| Hemophilia B |
|
Hematuria |
ORPHA:98879 |
| Immunoglobulin A Vasculitis |
|
Vasculitis, Gastrointestinal hemorrhage, Bruising susceptibility, Renal insufficiency, Episclerit... |
ORPHA:761 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Depression, Inflammatory ab... |
ORPHA:95455 |
| Renal Nutcracker Syndrome |
|
Hematuria, Proteinuria, Renal artery stenosis, Microscopic hematuria |
ORPHA:71273 |
| Proximal Renal Tubular Acidosis |
|
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Failure to thrive, Low-molecular-wei... |
ORPHA:47159 |
| Woolly Hair |
|
Cataract, Abnormal pupil morphology |
ORPHA:170 |
| Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Glycosuria, Failure to thrive, Low-molecular-weight proteinuria, Hyperphosphaturia... |
ORPHA:411629 |
| Microcoria, Congenital |
|
Hypoplasia of the iris dilator muscle, Microcoria |
OMIM:156600 |
| Adult-Onset Still Disease |
|
Hepatitis, Abnormal circulating lipid concentration, Increased circulating ferritin concentration... |
ORPHA:829 |
| Variant Abeta2M Amyloidosis |
|
Chronic kidney disease, Renal amyloidosis, Abnormal autonomic nervous system physiology |
ORPHA:314652 |
| Acute Promyelocytic Leukemia |
|
Hematuria, Vertigo, Stomatitis |
ORPHA:520 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Optic atrophy, Moderate albuminuria, EEG with burst suppression, Obesity, Hypsarrhythmia |
OMIM:614231 |
| Immunodeficiency 44 |
|
Lymphopenia |
OMIM:616636 |
| X-Linked Recessive Ocular Albinism |
|
Iris hypopigmentation, Abnormal pupil morphology, Astigmatism, Ocular albinism |
ORPHA:54 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Nephropathy, Renal insufficiency, Hypocalcemia |
ORPHA:1563 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... |
OMIM:618986 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Lethargy, Failure to thrive |
OMIM:613561 |
| Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia |
OMIM:301080 |
| Woolly Hair Nevus |
|
Heterochromia iridis, Persistent pupillary membrane |
ORPHA:79414 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Lethargy, Hyperammonemia, Elevated circulating creatine kinase concentration |
OMIM:600649 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Abnormal circulating creatin... |
OMIM:615838 |
| Pearson Marrow-Pancreas Syndrome |
|
3-Methylglutaric aciduria, Failure to thrive, Hyperbilirubinemia, Punctate keratitis, Lethargy, R... |
OMIM:557000 |
| Urachal Cyst |
|
Hematuria, Peritonitis, Urachus fistula, Elevated circulating C-reactive protein concentration, D... |
ORPHA:488 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Optic atrophy, Lethargy, Failure to thrive |
OMIM:618226 |
| Pontocerebellar Hypoplasia, Type 6 |
|
Lethargy, Failure to thrive |
OMIM:611523 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
3-Methylglutaric aciduria, Glutaric aciduria, Decreased circulating carnitine concentration, Keto... |
OMIM:246450 |
| Idiopathic Intracranial Hypertension |
|
Depression, Obesity, Lethargy, Papilledema, Pulsatile tinnitus |
ORPHA:238624 |
| Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Oliguria, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Anemia |
ORPHA:514 |
| Molybdenum Cofactor Deficiency, Type A |
|
Hypouricemia, Increased urinary taurine, Decreased urinary urate, Increased urinary hypoxanthine ... |
OMIM:252150 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Lethargy, Bradykinesia |
OMIM:618683 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia |
OMIM:616738 |
| Humeroradial Synostosis |
|
Renal insufficiency, Small earlobe, Microtia |
OMIM:236400 |
| Meckel Syndrome, Type 8 |
|
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys |
OMIM:613885 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Lethargy, Large for gestational age, Increased C-peptide level |
ORPHA:276580 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Depression, Hearing impairment, Failure to thrive, Obesity, Vesicoureteral reflux, Renal insuffic... |
ORPHA:96147 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Hyperbilirubinemia, Mild proteinuria, Increased serum bile acid concentration |
OMIM:619685 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Low-set ears, Hyperammonemia, 3-Methylglutaconic aciduria, Infectious encephalitis, Abnormality o... |
ORPHA:1194 |
| Severe Acute Respiratory Syndrome |
|
Acute kidney injury, Acute infectious pneumonia |
ORPHA:140896 |
| Spondyloenchondrodysplasia |
|
Chronic kidney disease, Pneumonia, Hepatitis, Skin rash, Hematuria, Proteinuria, Arthritis, Juven... |
ORPHA:1855 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Obesity, Nephronophthisis |
OMIM:615630 |
| Acute Intermittent Porphyria |
|
Depression, Urinary retention, Dark urine, Increased urinary porphobilinogen, Renal insufficiency... |
ORPHA:79276 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Abnormal circulating copper concentration, Lethargy, Abnormal circulating ... |
OMIM:620306 |
| Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:613390 |
| Branchiogenic Deafness Syndrome |
|
Conductive hearing impairment, Atresia of the external auditory canal, Underdeveloped tragus, Ove... |
ORPHA:50815 |
| Idiopathic Congenital Hypothyroidism |
|
Lethargy, Neonatal hyperbilirubinemia |
ORPHA:95717 |
| Glycerol Kinase Deficiency |
|
Low-set ears, Increased urinary glycerol, Chronic pancreatitis, Lethargy, Hypertriglyceridemia, H... |
OMIM:307030 |
| Branchiootic Syndrome |
|
Abnormality of the outer ear, Conductive hearing impairment, Atresia of the external auditory can... |
ORPHA:52429 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Porphyria Variegata |
|
Chronic kidney disease, Increased urinary porphobilinogen, Abnormal circulating porphyrin concent... |
ORPHA:79473 |
| Neuroleptic Malignant Syndrome |
|
Hypertensive crisis, Acute kidney injury, Hypotension, Hyperphosphatemia, Pulmonary embolism, Hyp... |
ORPHA:94093 |
| Caudal Regression Syndrome |
|
Renal agenesis, Abnormality of the ureter, Renal insufficiency, Vesicoureteral reflux, Ureteral d... |
ORPHA:3027 |
| Orotic Aciduria |
|
Oroticaciduria, Hematuria, Orotic acid crystalluria |
OMIM:258900 |
| Proteus-Like Syndrome |
|
Cataract, Thymus hyperplasia, Abnormal pupil morphology, Splenomegaly, Heterochromia iridis, Limb... |
ORPHA:2969 |
| Revesz Syndrome |
|
Aplastic anemia, Megalocornea, Macrocytic anemia, Leukocoria, Neutropenia |
OMIM:268130 |
| Stormorken Syndrome |
|
Hematuria, Elevated circulating creatine kinase concentration |
OMIM:185070 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Nephrocalcinosis, Hyperphosphatemia, Decreased renal tubular phosphate excretion, Increased renal... |
OMIM:211900 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst, Conjugated hyper... |
OMIM:208500 |
| Chronic Mucocutaneous Candidiasis |
|
Hepatitis, Recurrent urinary tract infections, Skin rash, Hematuria, Cheilitis |
ORPHA:1334 |
| Joubert Syndrome 7 |
|
Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:611560 |
| Donnai-Barrow Syndrome |
|
Low-set ears, Iris coloboma, Cataract, Hearing impairment, Hypoplasia of the iris, Sensorineural ... |
OMIM:222448 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Proximal tubulopathy, Failure to thrive, Hypocholesterolemia, Proteinuria, Renal... |
OMIM:212065 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Hematuria |
ORPHA:79 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Abnormality of the outer ear, Multiple bladder diverticula, Hearing impairment, Recurrent otitis ... |
ORPHA:2728 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials |
OMIM:617523 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Undetectable visual evoked potentials, Failure to thrive, 3-hydroxydicarboxylic aciduria, Sensori... |
OMIM:252010 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Obesity, Stage 1 chronic kidney disease |
OMIM:618821 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Renal cyst, Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria |
ORPHA:445038 |
| Deafness-Hypogonadism Syndrome |
|
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... |
ORPHA:90646 |
| Lamellar Ichthyosis |
|
Erythroderma, Abnormal helix morphology, Renal insufficiency, Chronic otitis media |
ORPHA:313 |
| Malignant Hyperthermia Of Anesthesia |
|
Acute kidney injury, Hyperphosphatemia, Supraventricular tachycardia, High-output congestive hear... |
ORPHA:423 |
| Lead Poisoning |
|
Chronic kidney disease, Depression, Increased LDL cholesterol concentration, Abnormality of the a... |
ORPHA:330015 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent urinary tract infections, Lymphopenia, Leukopenia, Splenomegaly, Hepatomegaly |
OMIM:620210 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... |
OMIM:221900 |
| Alexander Disease |
|
Microcoria |
OMIM:203450 |
| Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Abnormality of the urinary system, Anuria |
OMIM:267430 |
| Beta-Thalassemia Intermedia |
|
Proximal tubulopathy, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231222 |
| Acute Adrenal Insufficiency |
|
Failure to thrive, Renal insufficiency, Hyperuricemia, Hyponatremia, Decreased urinary potassium,... |
ORPHA:95409 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria |
OMIM:602199 |
| Boutonneuse Fever |
|
Vasculitis, Renal insufficiency, Petechiae, Skin rash, Maculopapular exanthema |
ORPHA:83313 |
| Yellow Fever |
|
Acute kidney injury, Abnormal bleeding, Anuria, Shock, Elevated circulating creatinine concentrat... |
ORPHA:99829 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
| Castleman Disease |
|
Hematuria, Ureteral obstruction, Renal insufficiency, Elevated circulating C-reactive protein con... |
ORPHA:160 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hyperammonemia, Hyperargininemia, Pancreatitis, Hypertriglyceridemia, Argininosuccinic aciduria, ... |
OMIM:603471 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Myoglobinuria, Dilated cardiomyopathy, Dicarboxylic aciduria |
OMIM:231530 |
| Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Increased body weight, Lethargy |
ORPHA:276608 |
| Colchicine Poisoning |
|
Hypotension, Oliguria, Cardiogenic shock, Hypomagnesemia, Congestive heart failure, Renal insuffi... |
ORPHA:31824 |
| Wagro Syndrome |
|
Low-set ears, Cataract, Aniridia, Nephroblastoma, Proteinuria, Corneal opacity |
OMIM:612469 |
| Ohdo Syndrome |
|
Proteinuria, Hearing impairment, Microtia |
OMIM:249620 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoalbuminemia, Failure to thrive, Hyperammonemia, Sensorineural hearing impairment, Hydronephro... |
OMIM:617093 |
| Autoerythrocyte Sensitization Syndrome |
|
Hematuria, Vertigo, Superficial dermal perivascular inflammatory infiltrate |
ORPHA:324636 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Stage 5 chronic kidney disease, Hyperalaninemia, Failure to thrive, Lacticaciduria |
OMIM:618250 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Focal segmental glomerulosclerosis, Proteinuria, Elevated hemoglobin A1c, Hypertriglyceridemia |
OMIM:619127 |
| Lymphedema-Hypoparathyroidism Syndrome |
|
Nephropathy, Renal insufficiency |
OMIM:247410 |
| Congenital Factor V Deficiency |
|
Hematuria |
ORPHA:326 |
| 17Q12 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Ureterocele, Hearing impairment, Renal insufficiency, Renal hypopla... |
ORPHA:261265 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Optic atrophy, Ketonuria, 3-Methylglutaconic aciduria, Elevated circulating creatine kinase conce... |
OMIM:251900 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Low-set ears, Failure to thrive, Tinnitus, Recurrent pancreatitis, Hypercholesterolemia, Polyuria... |
OMIM:606721 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis, Megacystis, Recurrent urinary tract infections, Nephrolithiasis, Fetal pyelectasis |
OMIM:619365 |
| Insulin-Resistance Syndrome Type B |
|
Hypoalbuminemia, Nephritis, Pneumonia, Hypotriglyceridemia, Glycosuria, Abnormal circulating lipi... |
ORPHA:2298 |
| Agel Amyloidosis |
|
Depression, Hearing impairment, Stage 5 chronic kidney disease, Proteinuria, Orthostatic hypotens... |
ORPHA:85448 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Enlarged kidney, Nephroblastoma |
OMIM:618272 |
| Zttk Syndrome |
|
Low-set ears, Unilateral renal agenesis, Optic atrophy, Failure to thrive, Horseshoe kidney, Prot... |
OMIM:617140 |
| Enamel-Renal Syndrome |
|
Nephropathy, Nephrocalcinosis, Hypocalciuria, Hypophosphaturia, Renal insufficiency, Impaired ren... |
ORPHA:1031 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Pneumonia, Increased circulating free fatty acid level, Inflammatory abnormality of the skin, Obe... |
ORPHA:26793 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Proximal tubulopathy, High-frequency hearing impairment, Organic aciduria, Hypomagnesemia, Stage ... |
OMIM:619743 |
| Short Syndrome |
|
Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon, Abnormal ... |
ORPHA:3163 |
| H Syndrome |
|
Histiocytosis, Microcytic anemia, Hepatosplenomegaly, Abnormality of the kidney, Hypertriglycerid... |
ORPHA:168569 |
| Hermansky-Pudlak Syndrome 1 |
|
Gingival bleeding, Hematochezia, Inflammation of the large intestine, Epistaxis, Bruising suscept... |
OMIM:203300 |
| Joubert Syndrome 3 |
|
Low-set ears, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:608629 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Low-set ears, Renal insufficiency |
ORPHA:2165 |
| Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... |
OMIM:309300 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Increased urinary glycerol, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthr... |
ORPHA:247598 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Elevated amniotic fluid alpha-fetoprotein, Renal insufficiency, Chordee, Hypospadias, Renal dyspl... |
ORPHA:96179 |
| Wilson Disease |
|
Aminoaciduria, Hypouricemia, Hypoalbuminemia, Glycosuria, Decreased nerve conduction velocity, Hy... |
OMIM:277900 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Depression, Hearing impairment, Failure to thrive, Facial diplegia, Elevated circulating creatine... |
ORPHA:254892 |
| Lesch-Nyhan Syndrome |
|
Nephrocalcinosis, Podagra, Hyperuricemia, Nephrolithiasis, Hyperuricosuria |
OMIM:300322 |
| Duplication Of Urethra |
|
Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli... |
ORPHA:237 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic atrophy, Glycosuria, Hearing impairment, Stage 5 chronic kidney disease, Sensorineural hear... |
OMIM:268315 |
| Hereditary Central Diabetes Insipidus |
|
Lethargy, Weight loss |
ORPHA:30925 |
| Familial Dysautonomia |
|
Abnormal pupil morphology, Renal insufficiency, Heterochromia iridis, Hyponatremia, Glomerulopath... |
ORPHA:1764 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Optic atrophy, Lethargy |
OMIM:603896 |
| Marburg Hemorrhagic Fever |
|
Excessive bleeding after a venipuncture, Tachycardia, Shock, Elevated circulating creatinine conc... |
ORPHA:99826 |
| Gaucher Disease Type 1 |
|
Elevated circulating CCL18 level, Increased circulating ferritin concentration, Hematuria, Osteoa... |
ORPHA:77259 |
| Macrophage Activation Syndrome |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hy... |
ORPHA:158061 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... |
OMIM:610532 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Unilateral renal agenesis, Progressive sensorineural hearing impairment, Psoriasiform dermatitis,... |
ORPHA:2237 |
| Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis |
OMIM:620374 |
| Hellp Syndrome |
|
Acute kidney injury, Hypotension, Proteinuria, Internal hemorrhage, Prolonged prothrombin time, C... |
ORPHA:244242 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Pneumonia, Decreased urinary urate, Failure to thrive, Recurrent urinary tract infe... |
OMIM:613179 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Low-set ears, Elevated circulating creatinine concentration, Failure to thrive, Hypoalbuminemia |
OMIM:608104 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatitis, Recurrent aphthous stomatitis, Renal insufficiency, Gastritis, Glomerulonephritis, Art... |
ORPHA:3261 |
| Bardet-Biedl Syndrome 20 |
|
Obesity, Proteinuria, Papilledema, Hypercholesterolemia, Pancreatitis, Micropenis |
OMIM:619471 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia |
ORPHA:277 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Abnormal neutrophil c... |
ORPHA:3226 |
| Familial Mediterranean Fever |
|
Nephropathy, Nephrocalcinosis, Depression, Erysipelas, Skin rash, Orchitis, Proteinuria, Peritoni... |
ORPHA:342 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Low-set ears, Conductive hearing impairment, Failure to thrive in infancy, Renal insufficiency, H... |
OMIM:611209 |
| Congenital Factor Ii Deficiency |
|
Microscopic hematuria |
ORPHA:325 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated circulating acylcarnitine concentration, Ketonuria, Torsade de pointes, Hypertrophic car... |
OMIM:616878 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Failure to thrive, Oroticaciduria, Hyperglycinemia, Hyperammonemia, Hyperglutamatemia, Hyperproli... |
OMIM:620358 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Lethargy, Bradykinesia |
ORPHA:101150 |
| Paroxysmal Cold Hemoglobinuria |
|
Hemoglobinuria, Abnormal urinary color |
ORPHA:90035 |
| Infantile Liver Failure Syndrome 2 |
|
Lethargy, Hyperammonemia |
OMIM:616483 |
| Parathyroid Carcinoma |
|
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... |
ORPHA:143 |
| Moderate Hemophilia A |
|
Hematuria, Synovitis |
ORPHA:169805 |
| Alstrom Syndrome |
|
Nephritis, Recurrent pneumonia, Progressive sensorineural hearing impairment, Decreased HDL chole... |
OMIM:203800 |
| Acquired Generalized Lipodystrophy |
|
Abnormal circulating lipid concentration, Cardiomyopathy, Abnormal cardiovascular system physiolo... |
ORPHA:79086 |
| Pseudo-Torch Syndrome 1 |
|
Low-set ears, Renal insufficiency, Failure to thrive |
OMIM:251290 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypoalbuminemia, Nephrotic syndrome, Heparan sulfate excretion in urine, Hepatosplenomegaly, Leuk... |
ORPHA:505248 |
| Crigler-Najjar Syndrome |
|
Lethargy, Hearing impairment, Infectious encephalitis |
ORPHA:205 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Exercise-induced myoglobinuria, Dilated cardiomyopathy, Abnormal left ventricular function, Eleva... |
OMIM:607155 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Hypouricemia, Decreased urinary urate, Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell ... |
ORPHA:760 |
| Martin-Probst Syndrome |
|
Low-set ears, Renal insufficiency, Sensorineural hearing impairment, Proteinuria, Chordee, Microp... |
OMIM:300519 |
| Onychotrichodysplasia And Neutropenia |
|
Chronic irritative conjunctivitis, Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... |
ORPHA:35858 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Optic atrophy, Bronchiectasis, Aspiration pneumonia, Hyperammonemia, Hypospadias, Small for gesta... |
OMIM:618253 |
| Phacoanaphylactic Uveitis |
|
Posterior uveitis, Anterior chamber flare grade 1+, Panuveitis, Hypopyon, Posterior synechiae of ... |
ORPHA:209959 |
| Rift Valley Fever |
|
Hepatitis, Vertigo, Skin rash, Infectious encephalitis, Hematuria, Uveitis |
ORPHA:319251 |
| Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Lethargy, Sensorineural hearing impairment |
ORPHA:49827 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Asplenia, Enlarged kidney, Cystic renal dysplasia |
OMIM:615415 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Hyperphosphatemia, Hydroxyprolinuria, Hearing impairment, Failure to thrive, Hyperuricemia, Senso... |
OMIM:239000 |
| Encephalitis Lethargica |
|
Urinary incontinence, Lethargy |
ORPHA:83600 |
| Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin concentration, Lethargy, Neonatal hyperbilirubinemia, Sensorin... |
ORPHA:95716 |
| Isolated Ectopia Lentis |
|
Cataract, Ectopia lentis, Ectopia pupillae |
ORPHA:1885 |
| Alagille Syndrome |
|
Keratoconus, Abnormality of the ureter, Abnormal pupil morphology, Renal hypoplasia/aplasia, Hepa... |
ORPHA:52 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
3-Methylglutaric aciduria, Glutaric aciduria, Elevated circulating acylcarnitine concentration, D... |
ORPHA:26791 |
| Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia, Hypercalciuria |
OMIM:242050 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Hypertensive crisis, Oliguria, Congestive heart failure, Renal insufficiency, Pulmonary arterial ... |
ORPHA:220393 |
| Immunodeficiency 67 |
|
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell... |
OMIM:607676 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Optic atrophy, Lethargy, Hyperglycinemia |
OMIM:614299 |
| Hemophilia B |
|
Hematuria, Osteoarthritis |
OMIM:306900 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... |
ORPHA:331206 |
| Fuchs Heterochromic Iridocyclitis |
|
Cataract, Chorioretinal scar, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, A... |
ORPHA:263479 |
| Mercury Poisoning |
|
Acute kidney injury, Hypotension, Interstitial pneumonitis, Hypokalemia, Tachycardia, Hypertension |
ORPHA:330021 |
| Immunodeficiency 92 |
|
Thrombocytosis, Leukocytosis, Lymphocytosis, Decreased proportion of class-switched memory B cell... |
OMIM:619652 |
| Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
| Joubert Syndrome 2 |
|
Low-set ears, Nephronophthisis, Failure to thrive, Optic disc coloboma, Renal insufficiency, Rena... |
OMIM:608091 |
| Cyclic Vomiting Syndrome |
|
Lethargy, Hearing impairment |
OMIM:500007 |
| Alkaptonuria |
|
Elevated urinary homogentisic acid, Decreased glomerular filtration rate, Dark urine, Nephrolithi... |
OMIM:203500 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:619260 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine |
OMIM:612736 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... |
ORPHA:486 |
| Lujo Hemorrhagic Fever |
|
Oliguria, Renal insufficiency, Skin rash, Maculopapular exanthema, Myocarditis, Elevated circulat... |
ORPHA:319213 |
| Calciphylaxis |
|
Stage 5 chronic kidney disease, Hyperphosphatemia |
ORPHA:280062 |
| Porphyria Cutanea Tarda |
|
Increased circulating iron concentration, Cutaneous abscess, Increased circulating ferritin conce... |
ORPHA:101330 |
| Molybdenum Cofactor Deficiency, Type B |
|
Hypouricemia, Increased urinary taurine, Decreased urinary urate, Increased urinary hypoxanthine ... |
OMIM:252160 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Mydriasis, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenome... |
OMIM:259720 |
| Kleefstra Syndrome |
|
Hearing impairment, Obesity, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Renal cy... |
ORPHA:261494 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased... |
OMIM:619510 |
| Aniridia 1 |
|
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupilla... |
OMIM:106210 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Failure to thrive, Obesity, Lethargy, Abdominal obesity, Micropenis |
ORPHA:398079 |
| Joubert Syndrome 9 |
|
Stage 5 chronic kidney disease |
OMIM:612285 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Micropenis, Methemoglobinemia, Hypospadias, Scrotal hypospadias |
OMIM:250790 |
| Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Multiple renal cysts, Thrombocytope... |
ORPHA:464329 |
| Q Fever |
|
Pneumonia, Hepatitis, Osteomyelitis, Cholecystitis, Infectious encephalitis, Hematuria, Myocardit... |
ORPHA:781 |
| Lassa Fever |
|
Conjunctivitis, Oliguria, Hearing impairment |
ORPHA:99824 |
| Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
| Distal Deletion 10Q |
|
Low-set ears, Abnormality of the outer ear, Acute kidney injury, Functional abnormality of the bl... |
ORPHA:96148 |
| Hec Syndrome |
|
Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... |
OMIM:616005 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Panuveitis, Hepatosplenomegaly, Chorioretinitis, Neutropenia, B lymphocytopenia, Anterior uveitis |
OMIM:301081 |
| Feingold Syndrome Type 1 |
|
Nephritis, Conductive hearing impairment, Horseshoe kidney, Vesicoureteral reflux, Renal insuffic... |
ORPHA:391641 |
| Central Neurocytoma |
|
Tinnitus, Lethargy, Depression |
ORPHA:73256 |
| Avian Influenza |
|
Pneumonia, Hypoalbuminemia, Acute kidney injury, Myelitis, Hepatitis, Elevated circulating creati... |
ORPHA:454836 |
| Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
| Refsum Disease |
|
Renal insufficiency, Sensorineural hearing impairment |
ORPHA:773 |
| Severe Hemophilia A |
|
Synovitis, Macroscopic hematuria |
ORPHA:169802 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Cataract, Multicystic kidney dysplasia, Bifid ureter, Transient neutropenia, Astigmatism, Nephrob... |
ORPHA:500095 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... |
ORPHA:99880 |
| Sifrim-Hitz-Weiss Syndrome |
|
Low-set ears, Cupped ear, Hearing impairment, Vesicoureteral reflux, Renal insufficiency, Micropenis |
OMIM:617159 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Myoglobinuria, Facial palsy, Elevated circulating creatine kinase concentration |
ORPHA:206549 |
| Noonan Syndrome 12 |
|
Lymphopenia, Thrombocytopenia |
OMIM:618624 |
| Leukocyte Adhesion Deficiency |
|
Pneumonia, Recurrent urinary tract infections, Vaginitis, Osteomyelitis, Recurrent aphthous stoma... |
ORPHA:2968 |
| Sepsis In Premature Infants |
|
Oliguria, Reversible renal failure, Decreased body weight, Enterocolitis, Elevated circulating C-... |
ORPHA:90051 |
| Susac Syndrome |
|
Tinnitus, Lethargy, Apathy, Sensorineural hearing impairment |
ORPHA:838 |
| Norrie Disease |
|
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... |
OMIM:310600 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, ... |
OMIM:301078 |
| Uveal Melanoma |
|
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Zonular cataract |
ORPHA:39044 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Microcornea, Decreased mean corpuscular volume |
OMIM:616943 |
| Immunodeficiency 49 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... |
OMIM:617237 |
| Joubert Syndrome With Oculorenal Defect |
|
Nephropathy, Aganglionic megacolon, Low-set, posteriorly rotated ears, Renal insufficiency |
ORPHA:2318 |
| Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
| Molybdenum Cofactor Deficiency, Type C |
|
Hypouricemia, Hypertaurinemia, Increased urinary taurine, Hypocystinemia |
OMIM:615501 |
| Sickle Cell Disease |
|
Hematuria, Renal insufficiency |
OMIM:603903 |
| Adult Krabbe Disease |
|
Urinary incontinence, Delayed brainstem auditory evoked response conduction time, EEG abnormality |
ORPHA:206448 |
| Late-Onset Isolated Acth Deficiency |
|
Failure to thrive, Hepatitis, Hyperuricemia, Hyponatremia, Hashimoto thyroiditis, Lethargy, Weigh... |
ORPHA:199299 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology |
ORPHA:2151 |
| Isolated Sedoheptulokinase Deficiency |
|
Abnormal renal tubule morphology, Renal insufficiency, Hepatitis, Portal hypertension |
ORPHA:440713 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Ketonuria, Hyperammonemia, Failure to thrive |
OMIM:615453 |
| Unilateral Ocular Duplication |
|
Microcornea, Abnormal pupil morphology, Iris coloboma |
ORPHA:3374 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Renal tubular acidosis, Elevated circulating creatine kinase concentration, In... |
ORPHA:264580 |
| Benign Samaritan Congenital Myopathy |
|
Lethargy |
ORPHA:324581 |
| Shigellosis |
|
Pneumonia, Acute kidney injury, Uveitis, Conjunctivitis, Ulcerative colitis, Urethritis, Failure ... |
ORPHA:810 |
| Joubert Syndrome With Renal Defect |
|
Nephropathy, Aganglionic megacolon, Low-set, posteriorly rotated ears, Renal insufficiency |
ORPHA:220497 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:88 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease |
OMIM:613819 |
| Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:612300 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute myeloid leukemia, Lymphocytosis |
ORPHA:86843 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Hemoglobinuria, Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase leve... |
OMIM:300908 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Elevated circulating creatine kinase concentration, Increased body weight... |
ORPHA:79240 |
| Pyomyositis |
|
Myositis, Weight loss, Renal insufficiency, Recurrent cutaneous abscess formation |
ORPHA:764 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:255125 |
| Lymphangioleiomyomatosis |
|
Abnormal urinary color, Hematuria, Renal angiomyolipoma, Multiple renal cysts, Renal neoplasm |
ORPHA:538 |
| Hand-Foot-Genital Syndrome |
|
Pyelonephritis, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction obstruction, C... |
OMIM:140000 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Low-set ears, Failure to thrive, Hyperechogenic kidneys, Low-set, posteriorly rotated ears, Renal... |
ORPHA:397715 |
| Psoriasis 14, Pustular |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia |
OMIM:614204 |
| Crimean-Congo Hemorrhagic Fever |
|
Gingival bleeding, Morbilliform rash, Hematuria, Erythema nodosum, Tachycardia, Purpura, Epididym... |
ORPHA:99827 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia |
OMIM:619767 |
| Cryptogenic Organizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Neutrophilia |
ORPHA:1302 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Acute kidney injury, Oliguria, Septic arthritis, Anuria, Hypocalcemia, Hyponatremia, D... |
ORPHA:544482 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Decreased proportion of CD8-positive T cells, Hepatosplenomegaly, Autoimmune hemolytic anemia, Eo... |
ORPHA:911 |
| Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia, Leukocytosis, Neutrophilia |
ORPHA:1930 |
| Cornelia De Lange Syndrome 1 |
|
Low-set ears, Optic atrophy, Renal hypoplasia, Pneumonia, Conductive hearing impairment, Optic di... |
OMIM:122470 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Lethargy, Apathy, Weight loss, Arthritis, Abnormali... |
ORPHA:465508 |
| Exercise-Induced Malignant Hyperthermia |
|
Acute kidney injury, Oliguria, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kin... |
ORPHA:466650 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Optic atrophy, Renal hypoplasia, Abdominal obesity, Micropenis, Azotemia, Optic nerve hypoplasia |
OMIM:619321 |
| Acquired Von Willebrand Syndrome |
|
Hematuria |
ORPHA:99147 |
| Bernard-Soulier Syndrome |
|
Partially duplicated kidney, Macroscopic hematuria |
ORPHA:274 |
| Otosclerosis 4 |
|
Mixed hearing impairment, Otosclerosis |
OMIM:611571 |
| Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
ORPHA:529808 |
| 7Q31 Microdeletion Syndrome |
|
Enuresis nocturna, Galactosuria, Low-set ears, Childhood onset sensorineural hearing impairment, ... |
ORPHA:251061 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hemoglobinuria, Hepatitis, Increased circulating ferritin concentration |
OMIM:194380 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... |
OMIM:242700 |
| Tafro Syndrome |
|
Elevated circulating C-reactive protein concentration, Renal insufficiency |
ORPHA:457077 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... |
ORPHA:99901 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Lethargy, Increased serum pyruvate |
OMIM:604377 |
| Ogden Syndrome |
|
Low-set ears, Eczematoid dermatitis, Recurrent otitis media, Hyperbilirubinemia, Protruding ear, ... |
OMIM:300855 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Narrow internal auditory canal, Hypoplasia of penis, Synotia |
ORPHA:990 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Microcornea, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Hypoplasia of... |
OMIM:180500 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Shwachman-Diamond Syndrome 1 |
|
Nephrocalcinosis, Persistence of hemoglobin F, Pancytopenia, Hepatomegaly, Acute myeloid leukemia... |
OMIM:260400 |
| Hyperlysinemia |
|
Hypoplastic helices, Hypoornithinemia, Hyperlysinuria, Hypoplasia of the antihelix, Recurrent pne... |
ORPHA:2203 |
| Histiocytoid Cardiomyopathy |
|
Renal cyst, Lethargy, Optic atrophy, Failure to thrive |
ORPHA:137675 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Granuloma, Lymphopenia, Hepatosplenomegaly, Impaired oxidative burst, Abscess, Splenomegaly, Peri... |
OMIM:618935 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Polysplenia, Stage 5 chronic kidney disease, Renal insufficiency, Splenomegaly, Ureteral atresia,... |
OMIM:208540 |
| Classic Galactosemia |
|
Lethargy, Depression |
ORPHA:79239 |
| Pearson Syndrome |
|
Glycosuria, Hearing impairment, Hypomagnesemia, Renal insufficiency, Hypocalcemia, Proteinuria, R... |
ORPHA:699 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Failure to thrive, Increased body weight, Lethargy, Abdominal obesity, Micropenis |
ORPHA:398069 |
| Trisomy 10P |
|
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Multiple renal cys... |
ORPHA:171929 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Ectopia pupillae, Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia ... |
OMIM:602482 |
| Diaphanospondylodysostosis |
|
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia |
OMIM:608022 |
| Lysinuric Protein Intolerance |
|
Aminoaciduria, Hyperlysinuria, Failure to thrive, Increased circulating ferritin concentration, O... |
OMIM:222700 |
| Coach Syndrome 1 |
|
Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni... |
OMIM:216360 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Renal insufficiency, Ectopic kidney, Lop... |
ORPHA:140952 |
| Facial Spasm |
|
Anisocoria |
OMIM:134300 |
| Cockayne Syndrome B |
|
Optic atrophy, Abnormal auditory evoked potentials, Small for gestational age, Failure to thrive,... |
OMIM:133540 |
| Gaucher Disease |
|
Hearing impairment, Hepatitis, Increased circulating ferritin concentration, Osteomyelitis, Hemat... |
ORPHA:355 |
| Developmental And Epileptic Encephalopathy 50 |
|
Oroticaciduria, Hyperammonemia, Renal tubular acidosis, Failure to thrive |
OMIM:616457 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Renal phosphate wasting, Renal hypophosphatemia, Hypophosphatemic rickets, Hyperphosphaturia, Sen... |
ORPHA:289176 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Low-set ears, Acute kidney injury, Oliguria, Recurrent pneumonia, Recurrent urinary tract infecti... |
ORPHA:731 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... |
ORPHA:206443 |
| Cockayne Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia, Optic atrophy, Progressive sensorineural hearing imp... |
ORPHA:191 |
| Beta-Ketothiolase Deficiency |
|
Ketonuria, Hyperammonemia, Hyperuricemia, Apathy, Weight loss |
ORPHA:134 |
| Joubert Syndrome With Hepatic Defect |
|
Nephropathy, Low-set ears, Multicystic kidney dysplasia, Optic disc coloboma, Renal insufficiency |
ORPHA:1454 |
| Ophthalmoplegia, Familial Static |
|
Anisocoria |
OMIM:165000 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Reduced natural killer cell count, Cutaneous abscess, Neutropenia |
OMIM:619752 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Renal agenesis, Persisten... |
ORPHA:124 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hydronephrosis, Unilateral renal agenesis, Hypercholesterolemia, Hyperammonemia |
OMIM:620454 |
| Pulmonary Alveolar Microlithiasis |
|
Hematuria, Calcium nephrolithiasis, Increased circulating surfactant protein level, Bronchiectasis |
ORPHA:60025 |
| Joubert Syndrome 6 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:610688 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Abnormal auditory evoked potentials, Urinary retention, Abnormality of somatosensory evoked poten... |
ORPHA:99027 |
| Gaisböck Syndrome |
|
Nephrocalcinosis, Hypernatriuria, Obesity, Gout, Cholecystitis, Hyperuricemia, Hypercholesterolem... |
ORPHA:90041 |
| Duane Retraction Syndrome |
|
Microcornea, Chorioretinal coloboma, Central heterochromia, Aniridia, Abnormal pupil morphology, ... |
ORPHA:233 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Typhoid |
|
Lethargy, Skin rash, Infectious encephalitis |
ORPHA:99745 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Cataract, Iris coloboma, Cupped ear, Hearing impairment, Osteomyelitis, Hyperbilirubinemia, Otiti... |
OMIM:619475 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Eosinophilia |
ORPHA:169160 |
| Erdheim-Chester Disease |
|
Osteomyelitis, Renal insufficiency, Skin rash, Hydronephrosis, Weight loss, Dysuria |
ORPHA:35687 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased proportion of CD4-positive T cells, Leukocytosis, Elevated circulating C-reactive prote... |
OMIM:617099 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Sensorineural hearing impai... |
OMIM:619351 |
| Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine, Abnormal cardiovascular system physiology, Arterial occlusion |
ORPHA:289601 |
| Lowe Oculocerebrorenal Syndrome |
|
Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Failure to thrive, Low-molecular-weight... |
OMIM:309000 |
| Congenital Factor X Deficiency |
|
Hematuria |
ORPHA:328 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Neutropenia |
OMIM:614868 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Small for gestational age, Failure to thrive, Hyperammonemia, Renal tubular acidosis, Protruding ... |
OMIM:615471 |
| Dengue Fever |
|
Lethargy, Hypoproteinemia, Skin rash |
ORPHA:99828 |
| Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Pustule, Eosinophilic dermal i... |
ORPHA:293173 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Low-set ears, Failure to thrive, Hyperammonemia, 3-Methylglutaconic aciduria, Hyperalaninemia, Hy... |
OMIM:614052 |
| Trisomy 9P |
|
Abnormal pupil morphology |
ORPHA:236 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Absent brainstem auditory ... |
ORPHA:101085 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Depression, Abnormal circulating thyroglobulin concentration, Overweight, Lethargy |
ORPHA:99832 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Abnormal B cell morphology, Aplasia of the thymus, T lymphocytopenia, Ectopia pupillae |
OMIM:618223 |
| Staphylococcal Necrotizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Lethargy, Pneumonia, Acute infectious pneu... |
ORPHA:36238 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Splenomegaly, Aplasia of the t... |
OMIM:602450 |
| Glycogen Storage Disease Xii |
|
Hyperbilirubinemia, Cholecystitis, Reduced haptoglobin level, Elevated circulating creatine kinas... |
OMIM:611881 |
| Primary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m... |
ORPHA:90362 |
| Persistent Hyperplastic Primary Vitreous |
|
Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal... |
ORPHA:91495 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
| Waldenström Macroglobulinemia |
|
Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, ... |
ORPHA:33226 |
| Stevens-Johnson Syndrome |
|
Abnormality of the urethra, Renal insufficiency, Weight loss, Pancreatitis, Conjunctivitis, Dysuria |
ORPHA:36426 |
| Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria, Enuresis |
ORPHA:289483 |
| Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:79126 |
| Cockayne Syndrome A |
|
Optic atrophy, Abnormal auditory evoked potentials, Failure to thrive, Decreased nerve conduction... |
OMIM:216400 |
| Gaucher Disease Type 3 |
|
Hematuria, Proteinuria |
ORPHA:77261 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Microcytic anemia, Hypospadias, HbH hemoglobin |
ORPHA:98791 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... |
ORPHA:276 |
| Cranioectodermal Dysplasia 4 |
|
Protruding ear, Recurrent pneumonia, Stage 5 chronic kidney disease |
OMIM:614378 |
| Pyruvate Carboxylase Deficiency |
|
Neonatal hyperbilirubinemia, Failure to thrive, Hyperammonemia, Hyperglutamatemia, Hyperprolinemi... |
ORPHA:3008 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Anemia, Lymphopenia, Thrombocytopenia |
OMIM:620365 |
| Icf Syndrome |
|
Anemia, Lymphopenia, Abnormality of neutrophils |
ORPHA:2268 |
| Xq21 Microdeletion Syndrome |
|
Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis, Renal artery ... |
ORPHA:1435 |
| Acute Radiation Syndrome |
|
Lymphopenia, Granulocytopenia, Thrombocytopenia, Cataract |
ORPHA:454831 |
| Toxic Epidermal Necrolysis |
|
Abnormality of the urethra, Renal insufficiency, Weight loss, Pancreatitis, Conjunctivitis, Dysuria |
ORPHA:537 |
| Distal Deletion 6P |
|
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho... |
ORPHA:96125 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Hypertriglyceridemia, Anemia, Conjunct... |
OMIM:617591 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia |
ORPHA:3240 |
| Exstrophy-Epispadias Complex |
|
Penoscrotal transposition, Renal hypoplasia, Renal dysplasia, Horseshoe kidney, Abnormality of th... |
ORPHA:322 |
| Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Developmental cataract, Neutropenia, Cataract |
OMIM:616395 |
| Multifocal Atrial Tachycardia |
|
Lethargy |
ORPHA:3282 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Cataract, Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutropenia, Thrombocyto... |
ORPHA:508542 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney, Polysplenia |
OMIM:200995 |
| Multicystic Dysplastic Kidney |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... |
ORPHA:1851 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Lethargy, Small for gestational age, Peritonitis |
ORPHA:391673 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Peters anomaly, Elevated circulating creatine kinase concentration, Buphthalmos, Persis... |
OMIM:613150 |
| Cyclic Neutropenia |
|
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... |
ORPHA:2686 |
| Insulinoma |
|
Increased body weight, Lethargy |
ORPHA:97279 |
| Pyruvate Dehydrogenase Deficiency |
|
Lethargy |
ORPHA:765 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy |
OMIM:616881 |
| Pure Mitochondrial Myopathy |
|
Recurrent myoglobinuria |
ORPHA:254854 |
| Familial Mediterranean Fever |
|
Renal amyloidosis, Erysipelas, Stage 5 chronic kidney disease, Crohn's disease, Orchitis, Periton... |
OMIM:249100 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydronephrosis, Urethral atresia, Enlarged kidney |
OMIM:314390 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Sen... |
OMIM:609136 |
| Thyroid Dyshormonogenesis 1 |
|
Lethargy |
OMIM:274400 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Autoimmune thrombocytopenia |
OMIM:616100 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Lethargy, Failure to thrive, Decreased serum zinc |
OMIM:201100 |
| Cockayne Syndrome Type 3 |
|
Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Conductive hearing i... |
ORPHA:90324 |
| Behçet Disease |
|
Mitral regurgitation, Endocarditis, Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage... |
ORPHA:117 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Neonatal hyperbilirubinemia, Depression, Failure to thrive, Abnormal circulating thyroglobulin co... |
ORPHA:90674 |
| Multiple Endocrine Neoplasia Type 1 |
|
Depression, Cranial nerve compression, Nephrolithiasis, Lethargy, Hypercalciuria, Weight loss, Hy... |
ORPHA:652 |
| Chromosome 16Q12 Duplication Syndrome |
|
Cataract, Anisocoria |
OMIM:619649 |
| Beta-Thalassemia Major |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231214 |
| Mucolipidosis Ii Alpha/Beta |
|
Increased serum beta-hexosaminidase, Megalocornea, Splenomegaly, Cardiomegaly, Mucopolysaccharidu... |
OMIM:252500 |
| Meckel Syndrome, Type 7 |
|
Aortic valve stenosis, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Portal hyper... |
OMIM:267010 |
| Joubert Syndrome 5 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu... |
OMIM:610188 |
| Argininemia |
|
Oroticaciduria, Diaminoaciduria, Hyperammonemia, Hyperargininemia |
OMIM:207800 |
| Dominant Beta-Thalassemia |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231226 |
| Khan-Khan-Katsanis Syndrome |
|
Renal hypoplasia, Peters anomaly, Lymphopenia, Corneal scarring, Vesicoureteral reflux, Hydroneph... |
OMIM:618460 |
| Scalp-Ear-Nipple Syndrome |
|
Low-set ears, Unilateral renal agenesis, Renal hypoplasia, Cupped ear, Underdeveloped tragus, Pye... |
OMIM:181270 |
| Arteriosclerosis, Severe Juvenile |
|
Chronic kidney disease, Hypertension, Myocardial infarction |
OMIM:208060 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Microcornea, Hypoplasia of the iris, Ectopia pupillae, Astigmatism, Corneal neovascularization, E... |
OMIM:175780 |
| Mirage Syndrome |
|
Hypospadias, Microphallus, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Hyponatre... |
OMIM:617053 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Perianal abscess, Iron... |
OMIM:301074 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperuricemia, Neonatal hyperbilirubinemia, Hyperalaninemia, Increased urinary glycerol |
ORPHA:348 |
| Beckwith-Wiedemann Syndrome |
|
Nephropathy, Visceromegaly, Polycythemia, Vesicoureteral reflux, Splenomegaly, Nephroblastoma, Ch... |
ORPHA:116 |
| Hyperparathyroidism, Transient Neonatal |
|
Unilateral renal agenesis, Splenic cyst, Enlarged kidney |
OMIM:618188 |
| Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
| Waardenburg Syndrome, Type 2E |
|
Iris hypopigmentation, Hypoplasia of the iris, Ocular albinism, Aplasia of the semicircular canal... |
OMIM:611584 |
| Zygomycosis |
|
Pustule, Acute infectious pneumonia, Endocarditis, Gastrointestinal hemorrhage, Renal insufficien... |
ORPHA:73263 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis, Abnormal circulating phytanic acid concentration |
ORPHA:247815 |
| Aymé-Gripp Syndrome |
|
Low-set ears, Cataract, Megalocornea, Stenosis of the external auditory canal, Sensorineural hear... |
ORPHA:1272 |
| Eisenmenger Syndrome |
|
Abnormal circulating B-type natriuretic peptide concentration, Elevated jugular venous pressure, ... |
ORPHA:97214 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Unilateral renal agenesis, Cataract, Renal hypoplasia, Abnormal circulating lipid concentration, ... |
OMIM:616541 |
| Hardikar Syndrome |
|
Hypoplasia of the bladder, Hydroureter, Failure to thrive, Mild hearing impairment, Recurrent uri... |
OMIM:301068 |
| Infantile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, De... |
ORPHA:206436 |
| Kawasaki Disease |
|
Hypoalbuminemia, Vasculitis, Sterile pyuria, Hepatitis, Congestive heart failure, Skin rash, Chol... |
ORPHA:2331 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, As... |
OMIM:617052 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Lethargy, Hypocalcemia |
ORPHA:746 |
| Tuberous Sclerosis Complex |
|
Chronic kidney disease, Depression, Stage 5 chronic kidney disease, Renal insufficiency, Renal an... |
ORPHA:805 |
| Coats Disease |
|
Leukocoria |
OMIM:300216 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent urinary tract infections, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Er... |
OMIM:612541 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Microcornea, Ectopia pupillae, Sclerocornea, Hypospadias |
OMIM:615877 |
| Evans Syndrome |
|
Lethargy |
ORPHA:1959 |
| Hyperaldosteronism, Familial, Type I |
|
Abnormality of the urinary system, Decreased circulating renin level |
OMIM:103900 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Splenomegaly, Abscess, Elevated circulating C-reactive protein concentration, Neutrophilia, Hepat... |
OMIM:612852 |
| Kufor-Rakeb Syndrome |
|
Urinary incontinence, Lethargy, Bradykinesia, Apathy |
ORPHA:306674 |
| Scorpion Envenomation |
|
Acute kidney injury, Cardiogenic shock, Ketonuria, Glycosuria, Prominent U wave, Congestive heart... |
ORPHA:466677 |
| Ogden Syndrome |
|
Low-set ears, Lethargy, Macrotia |
ORPHA:276432 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Renal insufficiency |
OMIM:226980 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Chronic kidney disease, Glutaric aciduria, Retinal hemorrhage, Subdural hemorrhage |
ORPHA:25 |
| Lathosterolosis |
|
Horseshoe kidney, Elevated circulating lathosterol concentration, Hyperbilirubinemia, Hyperammonemia |
OMIM:607330 |
| Hermansky-Pudlak Syndrome |
|
Weight loss, Renal insufficiency, Abnormality of visual evoked potentials |
ORPHA:79430 |
| Immunodeficiency 55 |
|
Lymphopenia, Absent natural killer cells, Neutropenia |
OMIM:617827 |
| Knobloch Syndrome 1 |
|
Duplicated collecting system, Band keratopathy, Bifid ureter, Chorioretinal atrophy, Renal duplic... |
OMIM:267750 |
| Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
| Chronic Graft Versus Host Disease |
|
Urinary bladder inflammation, Fasciitis, Phimosis, Hematuria, Recurrent corneal erosions, Keratoc... |
ORPHA:99921 |
| Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abnormality of the spleen, Myeloproliferative disorder, Lymphocytosis |
ORPHA:79456 |
| Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Hearing impairment, Renal insufficiency, Proteinuria, Hydronephrosi... |
ORPHA:2750 |
| Primary Sclerosing Cholangitis |
|
Hypoalbuminemia, Depression, Hepatitis, Renal insufficiency, Weight loss, Pancreatitis, Ulcerativ... |
ORPHA:171 |
| Amoebic Keratitis |
|
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Low-set ears, Hypoalbuminemia, Dilatation of the renal pelvis, Hearing impairment, Failure to thr... |
OMIM:619534 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Astigmatism, Persistence of hemoglobin F |
OMIM:619769 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Leukopenia, Elevated circulating C-reactive protein concentration, Thrombocytosis, A... |
OMIM:615934 |
| Serotonin Syndrome |
|
Acute kidney injury, Abnormality of the autonomic nervous system |
ORPHA:43116 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Bilateral sensorineural hearing impairment, Lethargy, Hypsarrhythmia, Skin rash |
OMIM:618321 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Cataract, Microcornea, Persistent pupillary membrane |
OMIM:257850 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
EEG with burst suppression, Hyperglycinemia, Lethargy, Hypsarrhythmia, Hypernatremia |
OMIM:620423 |
| Aneurysm Of Sinus Of Valsalva |
|
Bacterial endocarditis, Oliguria |
ORPHA:1054 |
| Holoprosencephaly |
|
Optic atrophy, Abnormality of the urinary system, Failure to thrive in infancy, Abnormal antiheli... |
ORPHA:2162 |
| Neurooculorenal Syndrome |
|
Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hyperechogenic ki... |
OMIM:620305 |
| Gorham-Stout Disease |
|
Osteomyelitis, Abnormality of the internal auditory canal, Hearing impairment |
ORPHA:73 |
| Retinoblastoma |
|
Leukemia, Leukocoria |
OMIM:180200 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Stage 5 chronic kidney disease, Hyperlipidemia |
OMIM:608612 |
| Alström Syndrome |
|
Chronic kidney disease, Glomerulonephritis, Thickened ears, Urinary incontinence, Optic disc pall... |
ORPHA:64 |
| Iatrogenic Botulism |
|
Mydriasis, Urinary retention |
ORPHA:254509 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Keratoconjunctivitis sicca, Enlarged kidney |
ORPHA:79128 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Astigmatism, Ectopia pupillae |
OMIM:618727 |
| Wound Botulism |
|
Mydriasis, Urinary retention |
ORPHA:178475 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Lethargy |
OMIM:618232 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Lymphopenia, T lymphocytopenia, Absent natural killer cells, Impaired lymphocyte transformation w... |
OMIM:600802 |
| Charcot-Marie-Tooth Disease Type 1E |
|
Abnormal pupil morphology, Anisocoria |
ORPHA:90658 |
| Glycine Encephalopathy |
|
EEG with burst suppression, Lethargy, Hyperglycinemia, EEG abnormality |
ORPHA:407 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Cataract, Unilateral renal agenesis, Renal hypoplasia, Lymphopenia, Pancytopenia, Leukopenia, Ves... |
OMIM:620654 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Lethargy, Neonatal hyperbilirubinemia, Increased circulating thyroglobulin concentration |
ORPHA:90673 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Lens subluxation, Hypotriglyceridemia, Corneal opacity, Ectopia pupillae |
ORPHA:85167 |
| Coccidioidomycosis |
|
Pneumonia, Folliculitis, Hearing impairment, Morbilliform rash, Osteomyelitis, Renal insufficienc... |
ORPHA:228123 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Recurrent otitis media, Lethargy, Bronchiectasis, Failure to thrive |
OMIM:620233 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Inhalational Botulism |
|
Mydriasis, Urinary retention |
ORPHA:254504 |
| Miller Fisher Syndrome |
|
Mydriasis, Anisocoria |
ORPHA:98919 |
| Bardet-Biedl Syndrome |
|
Chronic kidney disease, Inflammation of the large intestine, Depression, Hearing impairment, Hors... |
ORPHA:110 |
| Orofaciodigital Syndrome I |
|
Proteinuria, Low-set ears, Polycystic kidney dysplasia, Hearing impairment |
OMIM:311200 |
| Leptospirosis |
|
Acute kidney injury, Uveitis, Hypotension, Hepatitis, Pulmonary hemorrhage, Skin rash, Optic neur... |
ORPHA:509 |
| Orofaciodigital Syndrome Type 3 |
|
Low-set ears, Stage 5 chronic kidney disease |
ORPHA:2752 |
| Cartilage-Hair Hypoplasia |
|
Lymphopenia, Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Conge... |
OMIM:250250 |
| Amoebiasis Due To Free-Living Amoebae |
|
Pneumonia, Intrarenal abscess, Infectious encephalitis, Pustule, Lethargy, Sinusitis, Facial palsy |
ORPHA:68 |
| Mogs-Cdg |
|
Optic atrophy, Absent brainstem auditory responses, Abnormality of visual evoked potentials, Sens... |
ORPHA:79330 |
| Retinoblastoma |
|
Hypopyon, Heterochromia iridis, Leukocoria, Leukemia, Uveitis |
ORPHA:790 |
| Chromosome 17Q12 Deletion Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... |
OMIM:614527 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Sweet Syndrome |
|
Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Elevated circulating C-reactive... |
ORPHA:3243 |
| Au-Kline Syndrome |
|
Chronic kidney disease, Dilatation of the renal pelvis, Failure to thrive, Vesicoureteral reflux,... |
OMIM:616580 |
| Diamond-Blackfan Anemia 1 |
|
Renal hypoplasia, Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red ce... |
OMIM:105650 |
| Basal Ganglia Disease, Biotin-Thiamine Responsive |
|
Lethargy, Facial palsy |
OMIM:607483 |
| Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Lymphopenia, Penile freckling, Splenomegaly |
OMIM:605309 |
| Oculopalatocerebral Syndrome |
|
Leukocoria |
OMIM:257910 |
| Vici Syndrome |
|
Cataract, Ocular albinism, Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helper T... |
OMIM:242840 |
| Interstitial Lung And Liver Disease |
|
Aminoaciduria, Hyperammonemia, Failure to thrive |
OMIM:615486 |
| Wiskott-Aldrich Syndrome |
|
Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Keratitis, Microcytic anemia, Lympho... |
ORPHA:906 |
| Pituitary Apoplexy |
|
Hyponatremia, Mydriasis, Normochromic anemia |
ORPHA:95613 |
| Williams Syndrome |
|
Sensorineural hearing impairment, Chronic otitis media, Macrotia, Depression, Low-set, posteriorl... |
ORPHA:904 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney |
OMIM:613091 |
| Immunodeficiency 9 |
|
Lymphopenia, Hypoplasia of the thymus, Abnormal natural killer cell count |
OMIM:612782 |
| Cranioectodermal Dysplasia 2 |
|
Low-set ears, Recurrent pneumonia, Hyperbilirubinemia, Renal insufficiency, Simple ear, Renal cys... |
OMIM:613610 |
| Genetic Transient Congenital Hypothyroidism |
|
Lethargy, Increased circulating thyroglobulin concentration |
ORPHA:226316 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Lymphopenia, Leukocytosis, Autoimmune hemolytic anemia, Hypoplasia of the thymus, Impaired lympho... |
OMIM:243150 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Low-set ears, Acute kidney injury, Nephronophthisis, Failure to thrive, Stage 5 chronic kidney di... |
OMIM:266920 |
| Botulism |
|
Mydriasis, Urinary retention |
ORPHA:1267 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Vesicoureteral reflux, Hydronephrosis, Micropenis, Anisocoria, Pelvic kidney |
OMIM:618653 |
| Congenital Fibrosis Of Extraocular Muscles |
|
Cataract, Anisocoria, Abnormal pupil shape |
ORPHA:45358 |
| Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys |
OMIM:612651 |
| Sarcoidosis |
|
Nephrocalcinosis, Parotitis, Renal insufficiency, Maculopapular exanthema, Nephrolithiasis, Hyper... |
ORPHA:797 |
| Addison Disease |
|
Failure to thrive, Hyperuricemia, Hyponatremia, Hashimoto thyroiditis, Decreased urinary potassiu... |
ORPHA:85138 |
| Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Decreased circulating renin level |
OMIM:605115 |
| Cranioectodermal Dysplasia 1 |
|
Chronic kidney disease, Low-set ears, Renal magnesium wasting, Stage 1 chronic kidney disease, St... |
OMIM:218330 |
| Listeriosis |
|
Pneumonia, Acute kidney injury, Arteritis, Hearing impairment, Osteomyelitis, Pyelonephritis, Cho... |
ORPHA:533 |
| Foodborne Botulism |
|
Mydriasis, Urinary retention |
ORPHA:228371 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An... |
OMIM:127550 |
| Cranioectodermal Dysplasia 3 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:614099 |
| Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria |
OMIM:219250 |
| Ebola Hemorrhagic Fever |
|
Lethargy, Maculopapular exanthema, Acute pancreatitis, Hepatitis |
ORPHA:319218 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Abnormal hemoglobin, Hydronephrosis, Abnormality of the kidne... |
ORPHA:847 |
| Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
| Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
| Digeorge Syndrome |
|
Low-set ears, Unilateral renal agenesis, Recurrent pneumonia, Recurrent otitis media, Obesity, Re... |
OMIM:188400 |
| Beckwith-Wiedemann Syndrome |
|
Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephroblas... |
OMIM:130650 |
| Intestinal Botulism |
|
Mydriasis |
ORPHA:178481 |
| Fanconi Anemia |
|
Abnormality of the urinary system, Hydroureter, Hearing impairment, Recurrent urinary tract infec... |
ORPHA:84 |
| Toxin-Mediated Infectious Botulism |
|
Mydriasis |
ORPHA:230800 |
| Infant Botulism |
|
Hyponatremia, Mydriasis, Keratoconjunctivitis sicca |
ORPHA:178478 |
| Fusariosis |
|
Granuloma, Brain abscess, Keratitis, Abnormality of the spleen, Lymphopenia, Lung abscess, Neutro... |
ORPHA:228119 |
| Meacham Syndrome |
|
Accessory spleen, Enlarged kidney, Horseshoe kidney |
OMIM:608978 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Absent natural killer cells, Lymphopenia, Hepatosplenomegaly, Impaired lymphocyte transformation ... |
ORPHA:35078 |
| Degcags Syndrome |
|
Chronic kidney disease, Low-set ears, Renal hypoplasia, Pneumonia, Hearing impairment, Bilateral ... |
OMIM:619488 |
| Townes-Brocks Syndrome |
|
Renal hypoplasia, Hearing impairment, Failure to thrive, Renal insufficiency, Vesicoureteral refl... |
ORPHA:857 |
| Williams-Beuren Syndrome |
|
Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Recurrent otitis media, L... |
OMIM:194050 |
| Townes-Brocks Syndrome 1 |
|
Renal hypoplasia, Multicystic kidney dysplasia, Small for gestational age, Stahl ear, Renal dyspl... |
OMIM:107480 |
| Trichinellosis |
|
Skin rash, Tinnitus, Lethargy, Apathy, Conjunctivitis, Facial palsy |
ORPHA:863 |
| Alg9-Cdg |
|
Hypoplasia of the bladder, Abnormal renal artery morphology, Hydronephrosis, Hepatomegaly, Ureter... |
ORPHA:79328 |
| Hereditary Hemorrhagic Telangiectasia |
|
Hematuria, Conjunctival telangiectasia, Cholecystitis, Nephrolithiasis |
ORPHA:774 |
| Ectopic Aldosterone-Producing Tumor |
|
Hypokalemia, Decreased circulating renin level, Renal cortical adenoma |
ORPHA:231632 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Lens subluxation, Corneal opacity, Ectopia pupillae |
OMIM:608940 |
| Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Renal agenesis, HbH hemoglobin, Hydronephrosis, Hypochromic microcytic anemia, Micropenis, Reduce... |
OMIM:301040 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Renal agenesis, Polysplenia, Horseshoe kidney, Cardiomegaly, Hepatomegaly, Asplenia, Enlarged kidney |
OMIM:306955 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocytosis, Splenomegaly, Hepatomega... |
OMIM:615688 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Lymphocytosis, Elevated circulating C-reactive protein concentrat... |
OMIM:617718 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Cataract, Enlarged kidney |
OMIM:261740 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Anisocoria |
OMIM:231550 |
| Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Nephropathy, Decreased proportion of CD8-positive T cells, Lympho... |
OMIM:301000 |
| Ataxia-Telangiectasia |
|
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho... |
OMIM:208900 |
| Acute Liver Failure |
|
Acute kidney injury, Gastrointestinal hemorrhage, Hypotension, Hepatitis, Abnormal bleeding, Brui... |
ORPHA:90062 |
| Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Prostatitis, Renal insufficiency, Abnormality of the kidney |
ORPHA:449432 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypokalemia, Left ventricular hypertrophy, Decreased circulating renin level, Nephrolithiasis |
OMIM:615474 |
| Apparent Mineralocorticoid Excess |
|
Hypokalemia, Decreased circulating renin level |
OMIM:218030 |
| Medulloblastoma |
|
Bilateral sensorineural hearing impairment, Lethargy, Abnormal cranial nerve morphology |
ORPHA:616 |
| Schinzel-Giedion Syndrome |
|
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Recurrent pneumonia, Large... |
ORPHA:798 |
| Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria, Displacement of the urethral meatus, Multicystic kidney dysplasia |
ORPHA:1556 |
| Leprechaunism |
|
Nephrocalcinosis, Long penis, Hypokalemia, Hypercalciuria, Enlarged ovaries, Hepatomegaly, Enlarg... |
ORPHA:508 |
| Complete Atrioventricular Septal Defect |
|
Lethargy, Recurrent pneumonia, Failure to thrive |
ORPHA:1329 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Lethargy |
OMIM:608643 |
| Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality... |
ORPHA:909 |
| Oculo-Palato-Cerebral Syndrome |
|
Cataract, Leukocoria |
ORPHA:2714 |
| Hyper-Igd Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated urine mevalonic acid level, Renal angiom... |
OMIM:260920 |
| Helsmoortel-Van Der Aa Syndrome |
|
Enuresis nocturna, Recurrent urinary tract infections, Astigmatism, Enlarged kidney |
OMIM:615873 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Anemia, Lymphopenia |
ORPHA:935 |
| Cornelia De Lange Syndrome |
|
Multicystic kidney dysplasia, Conductive hearing impairment, Atresia of the external auditory can... |
ORPHA:199 |
| Primary Unilateral Adrenal Hyperplasia |
|
Hypokalemia, Increased urinary potassium, Decreased circulating renin level |
ORPHA:231580 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Functional abnormality of the bladder, Lymphopenia, Hepatosplenomegaly, Renal artery stenosis, Au... |
ORPHA:391487 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Anisocoria |
OMIM:615510 |
| Common Variable Immunodeficiency |
|
Lymphopenia, Autoimmune thrombocytopenia, Hemolytic anemia, Splenomegaly |
ORPHA:1572 |
| Superficial Siderosis |
|
Anisocoria, Functional abnormality of the bladder |
ORPHA:247245 |
| Norrie Disease |
|
Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Aplasia/Hypoplasia o... |
ORPHA:649 |
| Floating-Harbor Syndrome |
|
Low-set ears, Hypospadias, Nephrocalcinosis, Conductive hearing impairment, Dilatation of the ren... |
ORPHA:2044 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Webbed penis, Cataract, Microcornea, Multicystic kidney dysplasia, Hypospadias, Duplication of re... |
ORPHA:261552 |
| Cardiospondylocarpofacial Syndrome |
|
Low-set ears, Conductive hearing impairment, Fusion of middle ear ossicles, Horseshoe kidney, Rec... |
OMIM:157800 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Increased urinary potassium, Decreased circulating renin level |
ORPHA:231625 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Keratitis, Recurrent urinary tract infections, Microcytic anemia, Leukocytosis, Hepatomegaly, Neu... |
ORPHA:99843 |
| Kikuchi-Fujimoto Disease |
|
Leukopenia, Splenomegaly, Hepatomegaly, Lymphocytosis, Elevated circulating C-reactive protein co... |
ORPHA:50918 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Enlarged kidney, Nephroblastoma |
ORPHA:276280 |
| Mend Syndrome |
|
Low-set ears, Abnormal auditory evoked potentials, Failure to thrive, Elevated 8(9)-cholestenol, ... |
ORPHA:401973 |
| African Trypanosomiasis |
|
Myelitis, Keratitis, Renal insufficiency, Optic neuritis, Papilledema, Apathy, Weight loss, Myoca... |
ORPHA:3385 |
| Syndromic Diarrhea |
|
Renal hypoplasia, Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Hepatomega... |
ORPHA:84064 |
| Semilobar Holoprosencephaly |
|
Depression, Failure to thrive, Aspiration pneumonia, Abnormality of the autonomic nervous system,... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Depression, Failure to thrive, Aspiration pneumonia, Abnormality of the autonomic nervous system,... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Depression, Failure to thrive, Aspiration pneumonia, Abnormality of the autonomic nervous system,... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Depression, Failure to thrive, Aspiration pneumonia, Abnormality of the autonomic nervous system,... |
ORPHA:93924 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Proteinuria, Cerebral hemorrhage |
OMIM:616682 |
| Blau Syndrome |
|
Nephropathy, Posterior uveitis, Keratitis, Stage 5 chronic kidney disease, Clear cell renal cell ... |
ORPHA:90340 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Cataract, Severe B lymphocytopenia, Renal hypoplasia, Lymphopenia, Thrombocytop... |
OMIM:620005 |
| Immunodeficiency 87 And Autoimmunity |
|
Lymphopenia, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Decreased proportion of CD4-po... |
OMIM:619573 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Anisocoria |
ORPHA:99949 |
| Costello Syndrome |
|
Low-set ears, Failure to thrive, Renal insufficiency, Vestibular schwannoma, Posteriorly rotated ... |
OMIM:218040 |
| Proteus Syndrome |
|
Cataract, Long penis, Thymus hyperplasia, Chorioretinal coloboma, Central heterochromia, Splenome... |
ORPHA:744 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Lethargy, Hyperbilirubinemia, Increased circulating thyroglobulin concentration |
OMIM:218700 |
| Cardiac-Urogenital Syndrome |
|
Accessory spleen, Penoscrotal hypospadias, Micropenis, Patent urachus, Enlarged kidney |
OMIM:618280 |
| Bickerstaff Brainstem Encephalitis |
|
Mydriasis, Anisocoria |
ORPHA:79138 |
| Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Iris coloboma, Ectopia pupillae, Rieger anomaly, Hypospadias |
OMIM:194190 |
| Arachnoid Cyst |
|
Urinary incontinence, Mydriasis, Urinary bladder sphincter dysfunction |
ORPHA:2356 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Lethargy, Optic nerve hypoplasia, Overweight, Sensorineural hearing impairment |
ORPHA:226307 |
| Sotos Syndrome |
|
Conductive hearing impairment, Hearing impairment, Renal agenesis, Hypercalcemia, Vesicoureteral ... |
ORPHA:821 |
| Sponastrime Dysplasia |
|
Cataract, Microcoria, Neutropenia, Congenital aphakia, Hypospadias |
ORPHA:93357 |
| Reynolds Syndrome |
|
Lymphopenia, Hyperbilirubinemia, Splenomegaly, Calcinosis, Hepatomegaly |
OMIM:613471 |
| Whim Syndrome |
|
Abnormal neutrophil morphology, Lymphopenia, Neutropenia |
ORPHA:51636 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased urinary 11-deoxycorticosterone level, Long penis, Decreased circulating renin level, Hy... |
ORPHA:90795 |
| Alkaptonuria |
|
Aminoaciduria, Elevated urinary homogentisic acid, Dark urine, Nephrolithiasis, Methemoglobinemia... |
ORPHA:56 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Duplication of renal pelvis, Polysplenia, Splenomegaly, Nephroblastoma, Hydronephrosis, Renal cys... |
OMIM:312870 |
| Hydranencephaly |
|
Lethargy, Infantile sensorineural hearing impairment, Optic nerve hypoplasia |
ORPHA:2177 |
| Pmm2-Cdg |
|
Hypoalbuminemia, Failure to thrive, Aspiration pneumonia, Reduced thyroxin-binding globulin, Prot... |
ORPHA:79318 |
| Liver Disease, Severe Congenital |
|
Hyperbilirubinemia, Hepatomegaly, Hypospadias, Hypoproteinemia, Aminoaciduria, Hypocalcemia, Elev... |
OMIM:619991 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Chronic kidney disease, Fasciitis, Osteomyelitis, Abnormality of the autonomic nervous system, Ab... |
ORPHA:642 |
| Witteveen-Kolk Syndrome |
|
Cataract, Iris coloboma, Microphallus, Male urethral meatus stenosis, Phimosis, Anisocoria, Hypos... |
OMIM:613406 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Increased urinary 11-deoxycorticosterone level, Decreased circulating renin level, Hypokalemia, M... |
ORPHA:90793 |
| Mowat-Wilson Syndrome |
|
Cataract, Microcornea, Hypospadias, Chorioretinal coloboma, Ectopia pupillae, Abnormality of the ... |
OMIM:235730 |
| Alternating Hemiplegia Of Childhood |
|
Mydriasis |
ORPHA:2131 |
| Smooth Muscle Dysfunction Syndrome |
|
Mydriasis |
OMIM:613834 |
| Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Cystocele, Abnormal pupil morphology, Hypokalemia, Bladder diverticulum, Renovascula... |
ORPHA:286 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypokalemia, Long penis, Decreased circulating renin level |
OMIM:202010 |
| Pineoblastoma |
|
Lethargy, Papilledema |
ORPHA:251909 |
| Plague |
|
Conjunctival hyperemia, Hepatomegaly, Mydriasis, Splenomegaly |
ORPHA:707 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Mydriasis |
OMIM:619727 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Vesicovaginal fistula, Horseshoe kidney, Decreased circulating renin level, Hyponatremia, Chordee... |
OMIM:201750 |
