Deafness, Autosomal Dominant 85 |
|
Cochlear nerve hypoplasia, Sensorineural hearing impairment |
OMIM:620227 |
Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydronephrosis, Abnormality of the kidney, Hydroureter, Abnormality of the urinary system, Abnorm... |
ORPHA:2838 |
Ureter, Cancer Of |
|
Neoplasm of the ureter |
OMIM:191600 |
Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
Vesicoureteral Reflux 8 |
|
Recurrent urinary tract infections, Vesicoureteral reflux, Duplicated collecting system |
OMIM:615963 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Cystic renal... |
OMIM:601331 |
Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
Congenital Primary Megaureter |
|
Recurrent urinary tract infections, Hydronephrosis, Microscopic hematuria, Congenital megaureter,... |
ORPHA:617 |
Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomeruloscleros... |
OMIM:616002 |
Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Hydronephrosis, Hydroureter, Ureteropelvic junction obstruction, Congenital megaureter, Renal ins... |
OMIM:143400 |
Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypopl... |
OMIM:618270 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Incomplete partition of the cochlea type II, Enlarged vestibula... |
OMIM:600791 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydronephrosis, Hydroureter |
OMIM:264140 |
Nephronophthisis 20 |
|
Stage 5 chronic kidney disease, Renal cyst, Renal insufficiency, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Vesicoureteral Reflux, X-Linked |
|
Vesicoureteral reflux |
OMIM:314550 |
Vesicoureteral Reflux 1 |
|
Vesicoureteral reflux |
OMIM:193000 |
Vesicoureteral Reflux 3 |
|
Recurrent urinary tract infections, Hydronephrosis, Grade IV vesicoureteral reflux, Hydroureter, ... |
OMIM:613674 |
Nephronophthisis 7 |
|
Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:611498 |
Deafness-Oligodontia Syndrome |
|
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear |
ORPHA:3230 |
Humero-Radio-Ulnar Synostosis |
|
Abnormality of the ureter, Abnormality of the upper urinary tract |
ORPHA:3266 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Deafness, Autosomal Dominant 77 |
|
Morphological abnormality of the inner ear, Tinnitus, Sensorineural hearing impairment |
OMIM:618915 |
Retinitis Pigmentosa 42 |
|
Rod-cone dystrophy, Peripapillary atrophy, Perifoveal ring of hyperautofluorescence, Cystoid macu... |
OMIM:612943 |
Renal Hypodysplasia/Aplasia 3 |
|
Hydronephrosis, Horseshoe kidney, Renal dysplasia, Vesicoureteral reflux, Multicystic kidney dysp... |
OMIM:617805 |
Renal Hypoplasia |
|
Recurrent urinary tract infections, Hydronephrosis, Proteinuria, Abnormal renal morphology, Vesic... |
ORPHA:93101 |
Deafness, Autosomal Dominant 80 |
|
Cochlear aplasia, Morphological abnormality of the semicircular canal, Dilated vestibule of the i... |
OMIM:619274 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Enlarged kidney, R... |
ORPHA:93109 |
Urofacial Syndrome 1 |
|
Enuresis, Hydronephrosis, Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethr... |
OMIM:236730 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Cochlear aplasia, Abnormal vestibular function, Congenital sensorineural hearing impairment |
OMIM:619553 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Rod-cone dystrophy, Renal cyst, Retinal dystrophy |
OMIM:615987 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis |
OMIM:274265 |
Nephronophthisis 12 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:613820 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Renal dysplasia, Optic nerve dysplasia, Optic disc coloboma, Vesicoureteral ... |
ORPHA:1475 |
Senior-Loken Syndrome 5 |
|
Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:609254 |
Deafness, Autosomal Dominant 23 |
|
Vesicoureteral reflux |
OMIM:605192 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:612712 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:610599 |
Ureterocele |
|
Duplicated collecting system, Ureterocele |
OMIM:191650 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Stage 5 chronic kidney disease, Ureteropelvic junction obstruction, Unilateral renal agenesis, Ve... |
OMIM:610805 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Senior-Loken Syndrome 6 |
|
Rod-cone dystrophy, Stage 5 chronic kidney disease |
OMIM:610189 |
Polycystic Kidney Disease 7 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insufficiency, Multiple renal ... |
OMIM:620056 |
Holzgreve Syndrome |
|
Renal agenesis, Renal hypoplasia |
OMIM:236110 |
Auditory Neuropathy And Optic Atrophy |
|
Optic atrophy, Rod-cone dystrophy |
OMIM:617717 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Rod-cone dystrophy, Stage 5 chronic kidney disease, Retinal dystrophy |
OMIM:615995 |
Urofacial Syndrome 2 |
|
Enuresis, Hydronephrosis, Spastic/hyperactive bladder, Recurrent urinary tract infections, Megacy... |
OMIM:615112 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Hydroureter, Fetal megacystis |
OMIM:249210 |
Infundibulopelvic Dysgenesis |
|
Microscopic hematuria, Multicystic kidney dysplasia |
OMIM:600989 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Renal tubular atrophy, Chronic kidney disease, Focal segmental glomerulosclerosis, T... |
OMIM:613092 |
Lipoprotein Glomerulopathy |
|
Mesangial hypercellularity, Proteinuria, Glomerulopathy, Renal insufficiency |
OMIM:611771 |
Hinman Syndrome |
|
Enuresis, Hydronephrosis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral... |
ORPHA:84085 |
Hanac Syndrome |
|
Renal insufficiency, Multiple renal cysts, Retinal vascular tortuosity, Hematuria |
ORPHA:73229 |
Bor Syndrome |
|
Hydronephrosis, External ear malformation, Abnormality of the middle ear ossicles, Ureteropelvic ... |
ORPHA:107 |
Branchiootorenal Syndrome 2 |
|
Renal dysplasia, Renal insufficiency |
OMIM:610896 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Hydroureter, Nephrolithiasis, Vesicoureteral reflux |
OMIM:617219 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Beta 2-microglobulinuria, Reduced renal corticomedullary differentiation, Renal cort... |
OMIM:611555 |
Oligomeganephronia |
|
Renal tubular atrophy, Proteinuria, Stage 5 chronic kidney disease, Decreased glomerular filtrati... |
ORPHA:2260 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Nephronophthisis |
|
Renal insufficiency, Abnormality of retinal pigmentation |
ORPHA:655 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2487 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Renal interstitial fibrosis, Proteinuria, Hepatic cysts, Stage 5 chron... |
OMIM:614377 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Rod-cone dystrophy |
OMIM:615991 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Hydronephrosis, Duplicated collecting system |
OMIM:163850 |
Optic Atrophy 2 |
|
Optic atrophy |
OMIM:311050 |
Bardet-Biedl Syndrome 16 |
|
Stage 5 chronic kidney disease, Renal cyst, Renal insufficiency, Retinal degeneration, Renal dysp... |
OMIM:615993 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Choriocapillaris atrophy, Pigmentary retinopathy, Chorioretinal atrophy |
OMIM:215500 |
Deafness, Autosomal Dominant 9 |
|
Tinnitus, Vertigo, Abnormality of the vestibulocochlear nerve, Cochlear degeneration, Postlingual... |
OMIM:601369 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant |
|
Optic atrophy |
OMIM:165199 |
2p15-16.1 microdeletion syndrome |
|
Hydronephrosis, Optic disc hypoplasia |
DECIPHER:70 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:613824 |
Branchiootic Syndrome 1 |
|
Low-set ears, Cochlear malformation, Mixed hearing impairment, Cupped ear, Sensorineural hearing ... |
OMIM:602588 |
Senior-Loken Syndrome 7 |
|
Nephronophthisis |
OMIM:613615 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephroti... |
OMIM:601894 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydronephrosis, Optic disc pallor, Hydroureter |
OMIM:618240 |
Optic Atrophy--Spastic Paraplegia Syndrome |
|
Optic atrophy |
OMIM:311100 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis, Retinal degeneration |
OMIM:614844 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Recurrent urinary tract infections, Hydronephrosis, Stage 2 chronic kidney disease, Neurogenic bl... |
OMIM:191800 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Optic atrophy, Attenuation of retinal blood vessels |
OMIM:165510 |
Wolfram Syndrome, Mitochondrial Form |
|
Hydronephrosis, Optic atrophy, Abnormal autonomic nervous system physiology, Hydroureter |
OMIM:598500 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Microscopic hematuria, Proteinuria, Glomerulopathy, Stage 5 chronic kidney disease, Renal insuffi... |
OMIM:137950 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hydroureter, Abnormality of the upper urinary tract, Abnormality of the bladder, Hypoplasia of penis |
ORPHA:2547 |
Renal Dysplasia |
|
Enlarged kidney, Abnormal renal calyx morphology, Hydroureter, Abnormal nephron morphology, Multi... |
ORPHA:93108 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy |
OMIM:136600 |
Primary Membranoproliferative Glomerulonephritis |
|
Microscopic hematuria, Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Chronic ... |
ORPHA:54370 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proximal renal tubular acidosis, Proteinuria, Unilateral renal dysplasia, Nephrocalcinosis, Chron... |
OMIM:146255 |
Polycystic Kidney Disease 5 |
|
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Reduced renal corti... |
OMIM:617610 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... |
OMIM:613830 |
Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:607921 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Nephrolithiasis, Hematuria, Urolithiasis,... |
OMIM:614723 |
Optic Atrophy 9 |
|
Optic atrophy, Optic disc pallor |
OMIM:616289 |
Lessel-Kubisch Syndrome |
|
Renal insufficiency, Renal hypoplasia |
OMIM:618681 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Unilateral renal agenesis |
OMIM:235740 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:613582 |
C3 Glomerulopathy 3 |
|
Microscopic hematuria, Glomerulonephritis, Glomerular C3 deposition, Stage 5 chronic kidney disea... |
OMIM:614809 |
Intracranial Hypertension, Idiopathic |
|
Papilledema |
OMIM:243200 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Renal insufficiency, Glomerulonephritis, Nephrotic syndrome, Glomerular deposits |
ORPHA:69063 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Abnormal tubulointerstitial morphology, Nephropathy, Chronic kidney disease |
OMIM:602114 |
Lower Urinary Tract Obstruction, Congenital |
|
Urinary incontinence, Congenital posterior urethral valve, Vesicoureteral reflux, Pollakisuria, U... |
OMIM:618612 |
Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Renal insufficiency, Patent ductus arteriosus, Rod-cone dystrophy, Renal hypoplasia |
OMIM:615996 |
Choroideremia |
|
Hypopigmentation of the fundus, Granular macular appearance, Choroideremia, Pigmentary retinopath... |
OMIM:303100 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Rod-cone dystrophy, Renal cyst, Retinal degeneration |
OMIM:615982 |
Caudal Duplication |
|
Renal hypoplasia/aplasia, Abnormal penis morphology, Ureteral duplication |
ORPHA:1756 |
Pendred Syndrome |
|
Enlarged vestibular aqueduct, Abnormality of the inner ear, Nephropathy, Vertigo, Sensorineural h... |
ORPHA:705 |
Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Homocarnosinosis |
|
Carnosinuria, Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Horseshoe kidney, Ureteral duplication, Renal agenesis, Ectopic kidney |
OMIM:602200 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... |
OMIM:610359 |
Atresia Of Urethra |
|
Recurrent urinary tract infections, Hydronephrosis, Megacystis, Hydroureter, Patent urachus, Rena... |
ORPHA:105 |
Retinitis Pigmentosa 71 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Perifoveal ring of hyperautofluorescence... |
OMIM:616394 |
Glaucoma 1, Open Angle, P |
|
Increased cup-to-disc ratio |
OMIM:177700 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... |
OMIM:618889 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Hyporeflective spaces on macular OCT, Retinal atrophy, ... |
ORPHA:59181 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:620049 |
Focal Segmental Glomerulosclerosis 10 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Minimal change glomerulonephrit... |
OMIM:256020 |
Joubert Syndrome 22 |
|
Renal hypoplasia, Retinal dysplasia, Coloboma |
OMIM:615665 |
Medullary cystic kidney disease 2 |
|
Enuresis, Renal tubular atrophy, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Re... |
OMIM:603860 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Gonadal dysgenesis, Neural tube defect, Retinal dysplasia |
OMIM:615041 |
Joubert Syndrome 15 |
|
Micropenis, Ambiguous genitalia, Nephronophthisis, Exencephaly, Coloboma, Retinopathy, Retinal dy... |
OMIM:614464 |
Meier-Gorlin Syndrome 8 |
|
Unilateral renal hypoplasia, Nephroptosis |
OMIM:617564 |
Joubert Syndrome 16 |
|
Encephalocele, Retinal dystrophy, Renal cyst, Nephronophthisis, Coloboma |
OMIM:614465 |
Bladder Exstrophy And Epispadias Complex |
|
Horseshoe kidney, Epispadias, Hydroureter, Unilateral renal agenesis, Bladder exstrophy |
OMIM:600057 |
Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis, Patent ductus arteriosus |
OMIM:618845 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Retinal arteriolar constric... |
OMIM:249660 |
Isolated Epispadias |
|
Anteriorly displaced urethral meatus, Epispadias, Urinary incontinence, Vesicoureteral reflux |
ORPHA:93928 |
Camos Syndrome |
|
Renal insufficiency, Optic atrophy, Nephrotic syndrome |
ORPHA:83472 |
Nephrotic Syndrome, Type 24 |
|
Podocyte foot process effacement, Focal segmental glomerulosclerosis, Renal cortical hyperechogen... |
OMIM:619263 |
Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Renal hypoplasia |
OMIM:600151 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Tinnitus, Abnormal middle ear reflexes, Hearing impairment, Abnormal speech discrimination, Verti... |
OMIM:300614 |
Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Renal insufficiency, Nephronophthisis, Stage 5 chronic kidney ... |
OMIM:609583 |
Spastic Ataxia 7, Autosomal Dominant |
|
Optic atrophy |
OMIM:108650 |
Branchiootorenal Syndrome 1 |
|
Polycystic kidney dysplasia, Cholesteatoma, Abnormal renal collecting system morphology, Conducti... |
OMIM:113650 |
Central Areolar Choroidal Dystrophy |
|
Full-thickness macular hole, Macular atrophy, Hypopigmentation of the fundus, Foveal photorecepto... |
ORPHA:75377 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Patent ductus arteriosus, Renal hypoplasia, Unilateral renal agenesis, Chronic kidney disease |
OMIM:617661 |
Familial Drusen |
|
Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... |
ORPHA:75376 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Retinal dysplasia, Abnormality of retinal pigmentation |
ORPHA:1852 |
Papillorenal Syndrome |
|
Absence of renal corticomedullary differentiation, Proteinuria, Stage 5 chronic kidney disease, C... |
OMIM:120330 |
Ribose 5-Phosphate Isomerase Deficiency |
|
Increased level of ribitol in urine, Increased level of xylitol in urine, Increased level of ribo... |
OMIM:608611 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy |
ORPHA:2253 |
Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Chorioretinal coloboma, Renal agenesis |
ORPHA:1471 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Chronic kidney disease, Nephrotic syndrome, Focal se... |
OMIM:603965 |
Autosomal Recessive Primary Microcephaly |
|
Vesicoureteral reflux, Unilateral renal agenesis |
ORPHA:2512 |
Ochoa Syndrome |
|
Recurrent urinary tract infections, Hydronephrosis, Urinary incontinence, Renal insufficiency, Ur... |
ORPHA:2704 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Absence of renal corticomedullary differentiation, Decreased numbers of nephrons, Bifid ureter, M... |
OMIM:617641 |
Cystinuria |
|
Recurrent urinary tract infections, Hyperlysinuria, Renal insufficiency, Argininuria, Ornithinuri... |
OMIM:220100 |
Retinitis Pigmentosa 95 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Perifoveal ring of hyperautofluorescence... |
OMIM:620102 |
Retinitis Pigmentosa 81 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Retinal pigment epithelial atrophy, Bone... |
OMIM:617871 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Attenuation o... |
OMIM:614181 |
Interstitial Nephritis, Karyomegalic |
|
Renal interstitial fibrosis, Proteinuria, Renal tubular cyst, Stage 5 chronic kidney disease, Tub... |
OMIM:614817 |
Woolly Hair Nevus |
|
Enlarged vestibular aqueduct |
ORPHA:79414 |
Nephrosialidosis |
|
Death in childhood, Renal insufficiency, Nephropathy, Nephrotic syndrome |
OMIM:256150 |
Renal Failure, Progressive, With Hypertension |
|
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency, Nephritis |
OMIM:161900 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:180210 |
Ceroid Lipofuscinosis, Neuronal, 9 |
|
Optic atrophy, Rod-cone dystrophy |
OMIM:609055 |
Chromosome Xq21 Deletion Syndrome |
|
Progressive sensorineural hearing impairment, Conductive hearing impairment, Incomplete partition... |
OMIM:303110 |
Deafness, X-Linked 2 |
|
Conductive hearing impairment, Stapes ankylosis, Mixed hearing impairment, Progressive sensorineu... |
OMIM:304400 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Microscopic hematuria, Renal tubular atrophy, Nephrocalcinosis, Chronic kidney disease, Renal ins... |
OMIM:310468 |
Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616893 |
Ocular Pigment Dispersion With Or Without Glaucoma |
|
Optic atrophy |
OMIM:600510 |
Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Vestibular hypofunction, Sensorineural hearing impairment |
ORPHA:231183 |
Coach Syndrome 3 |
|
Renal interstitial fibrosis, Renal tubular atrophy, Stage 5 chronic kidney disease, Renal insuffi... |
OMIM:619113 |
Prune Belly Syndrome |
|
Recurrent urinary tract infections, Abnormality of the ureter, Hydroureter, Renal insufficiency, ... |
ORPHA:2970 |
Nephronophthisis 16 |
|
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Renal insufficiency... |
OMIM:615382 |
Nail-Patella-Like Renal Disease |
|
Microscopic hematuria, Proteinuria, Glomerulopathy, Renal insufficiency |
ORPHA:2613 |
Wagner Vitreoretinopathy |
|
Optically empty vitreous, Vitreoretinopathy, Peripheral tractional retinal detachment, Exudative ... |
OMIM:143200 |
Macular Dystrophy, Retinal, 2 |
|
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... |
OMIM:608051 |
Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
Nephrotic Syndrome, Type 18 |
|
Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Stage 3 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmenta... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Proteinuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 ch... |
OMIM:301028 |
Focal Segmental Glomerulosclerosis 8 |
|
Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:616032 |
Prune Belly Syndrome |
|
Hydronephrosis, Congenital posterior urethral valve, Hydroureter |
OMIM:100100 |
Nephronophthisis 15 |
|
Nephronophthisis |
OMIM:614845 |
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy |
|
Optic atrophy, Optic disc pallor |
OMIM:618511 |
Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the... |
OMIM:609913 |
Central Retinal Vein Occlusion |
|
Retinal vascular tortuosity, Papilledema, Macular degeneration, Pigmentary retinopathy, Cystoid m... |
ORPHA:411527 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
Usher Syndrome Type 1 |
|
Abnormal cochlea morphology, Vestibular hypofunction, Sensorineural hearing impairment |
ORPHA:231169 |
Renal Cysts And Diabetes Syndrome |
|
Abnormal renal morphology, Proteinuria, Abnormality of the kidney, Multiple glomerular cysts, Sta... |
OMIM:137920 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Optic atrophy, Retinal dystrophy |
OMIM:614706 |
Deafness-Hypogonadism Syndrome |
|
Abnormality of the internal auditory canal, Conductive hearing impairment, Abnormality of the mid... |
ORPHA:90646 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Abnormal macular morphology, Choroi... |
ORPHA:97341 |
Senior-Loken Syndrome 4 |
|
Polyuria, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:606996 |
Coloboma, Ocular, Autosomal Dominant |
|
Vesicoureteral reflux, Optic nerve aplasia, Morning glory anomaly, Chorioretinal coloboma, Optic ... |
OMIM:120200 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Retinitis Pigmentosa 11 |
|
Macular atrophy, Rod-cone dystrophy, Macular degeneration, Optic disc pallor, Bone spicule pigmen... |
OMIM:600138 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Acute kidney injury, Uric acid nephrolithiasis, Hyperuricosuria, Renal cortical hype... |
OMIM:220150 |
Nephronophthisis 18 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Thickened gl... |
OMIM:615862 |
Retinitis Pigmentosa 70 |
|
Macular degeneration, Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:615922 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:614199 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Renal cyst |
OMIM:614870 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy, ... |
OMIM:613194 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydronephrosis, Hydroureter, Fetal megacystis, Megacystis |
OMIM:619362 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Hematuria |
OMIM:607832 |
Birdshot Chorioretinopathy |
|
Vitreous floaters, Abnormal retinal vascular morphology, Epiretinal membrane, Retinal detachment,... |
ORPHA:179 |
Retinitis Pigmentosa 63 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614494 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Leydig Cell Hypoplasia |
|
Cryptorchidism, Micropenis, Ambiguous genitalia, Abnormal vas deferens morphology, Abnormal inter... |
ORPHA:755 |
Wolfram Syndrome 1 |
|
Hydronephrosis, Neurogenic bladder, Hydroureter, Pigmentary retinopathy, Optic atrophy |
OMIM:222300 |
Cleft Lip-Retinopathy Syndrome |
|
Retinopathy, Abnormality of retinal pigmentation |
ORPHA:1995 |
Coloboma Of Optic Nerve |
|
Optic disc coloboma, Retinal detachment |
OMIM:120430 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:615990 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor |
OMIM:165300 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Nephropathy, Abnormality of retinal pigmentation, Macular coloboma, Nephrolithiasis, Chorioretina... |
ORPHA:2196 |
Posterior Urethral Valve |
|
Recurrent urinary tract infections, Enuresis nocturna, Hydronephrosis, Unilateral renal dysplasia... |
ORPHA:93110 |
Nephrotic Syndrome, Type 17 |
|
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... |
OMIM:618176 |
Spastic Paraplegia 74, Autosomal Recessive |
|
Optic atrophy, Peripheral axonal neuropathy |
OMIM:616451 |
Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613809 |
Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
Cat-Eye Syndrome |
|
Hydronephrosis, Iris coloboma, Renal hypoplasia/aplasia, Chorioretinal coloboma, Abnormal localiz... |
ORPHA:195 |
Senior-Loken Syndrome |
|
Nephronophthisis, Stage 5 chronic kidney disease, Chronic kidney disease |
ORPHA:3156 |
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To |
|
Nonarteritic anterior ischemic optic neuropathy |
OMIM:258660 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Unilateral renal agenesis |
OMIM:601355 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:606068 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydronephrosis, Hydroureter, Megacystis |
OMIM:619431 |
Caudal Regression Syndrome |
|
Ectopic kidney, Abnormality of the ureter, Renal insufficiency, Ureteral duplication, Vesicourete... |
ORPHA:3027 |
Waardenburg Syndrome, Type 1 |
|
Blue irides, Hypopigmentation of the fundus, Myelomeningocele, Spina bifida, Premature graying of... |
OMIM:193500 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hydrocephalus, Olivopontocerebellar hypoplasia, Unilateral renal agenesis, Optic nerve hypoplasia... |
ORPHA:457284 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Keratoconus Posticus Circumscriptus |
|
Recurrent urinary tract infections, Vesicoureteral reflux |
OMIM:244600 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
Complement Factor H Deficiency |
|
Thickened glomerular basement membrane, Hematuria, Chronic kidney disease, Glomerular subendothel... |
OMIM:609814 |
Radial-Renal Syndrome |
|
Ectopic kidney, Unilateral renal agenesis |
OMIM:179280 |
Nephronophthisis 4 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophth... |
OMIM:606966 |
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Unilateral renal agenesis |
OMIM:206750 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Optic atrophy, Chorioretinal coloboma |
ORPHA:2732 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
Nephrotic Syndrome, Type 7 |
|
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Hemolytic-uremic syndrome, Thic... |
OMIM:615008 |
Retinitis Pigmentosa 38 |
|
Macular atrophy, Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy |
OMIM:613862 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Optic atrophy |
OMIM:618572 |
Cone-Rod Dystrophy 17 |
|
Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:615163 |
Bresek Syndrome |
|
Iris coloboma, Hypoplasia of the bladder, Hydrocephalus, Aganglionic megacolon, Optic nerve hypop... |
ORPHA:85284 |
Cone-Rod Dystrophy 16 |
|
Beaten bronze macular sheen, Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Bone sp... |
OMIM:614500 |
Multiple Mitochondrial Dysfunctions Syndrome 4 |
|
Optic atrophy |
OMIM:616370 |
Renal Agenesis |
|
Proteinuria, Renal insufficiency, Unilateral renal agenesis, Absent vas deferens, Renal agenesis,... |
ORPHA:411709 |
Night Blindness, Congenital Stationary, Type 1G |
|
Optic disc pallor, Rod-cone dystrophy, Congenital stationary night blindness |
OMIM:616389 |
Spastic Paraplegia 43, Autosomal Recessive |
|
Optic atrophy |
OMIM:615043 |
Spastic Paraplegia 57, Autosomal Recessive |
|
Optic atrophy |
OMIM:615658 |
Bothnia Retinal Dystrophy |
|
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Retinal degene... |
ORPHA:85128 |
Retinitis Pigmentosa 76 |
|
Peripapillary atrophy, Hyperautofluorescent macular lesion, Cystoid macular edema, Retinal thinni... |
OMIM:617123 |
Nephronophthisis 3 |
|
Enuresis, Renal tubular atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Renal corti... |
OMIM:604387 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Retinal degeneration, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:617572 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal cyst, Neonatal death, Renal dysplasia, Stillbirth, Ureteral agenesis, Renal hypoplasia |
OMIM:236500 |
X-Linked Intellectual Disability, Schimke Type |
|
Hydronephrosis, Vesicoureteral reflux |
ORPHA:85285 |
Retinitis Pigmentosa 26 |
|
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:608380 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Sensorineural hearing impairment, Ret... |
OMIM:617879 |
Usher Syndrome, Type Iiib |
|
Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels |
OMIM:614504 |
Bladder Exstrophy |
|
Recurrent urinary tract infections, Abnormality of the ureter, Epispadias, Hypoplasia of penis, B... |
ORPHA:93930 |
46,Xy Sex Reversal 11 |
|
Gonadal dysgenesis with female appearance, male, Urogenital sinus anomaly, Elevated circulating f... |
OMIM:273250 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Tubular basement membrane disintegration, ... |
OMIM:256100 |
Chromosome 17Q12 Deletion Syndrome |
|
Recurrent urinary tract infections, Hydronephrosis, Cryptorchidism, Stage 5 chronic kidney diseas... |
OMIM:614527 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Hydronephrosis, Urogenital sinus anomaly, Hydroureter, Renal hypoplasia/aplasia, Abnormality of t... |
ORPHA:2973 |
Nephrogenic Diabetes Insipidus |
|
Enuresis nocturna, Hydroureter, Renal insufficiency, Functional abnormality of the bladder, Hypos... |
ORPHA:223 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
Retinitis Pigmentosa 88 |
|
Macular degeneration, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the ... |
OMIM:618826 |
Knobloch Syndrome |
|
Vesicoureteral reflux, Bifid ureter |
ORPHA:1571 |
Irvan Syndrome |
|
Vitreous floaters, Retinal exudate, Retinal detachment, Tractional retinal detachment, Optic atro... |
ORPHA:209943 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Tubular basement membrane disintegration, Decreased glomerular filtration ... |
OMIM:174000 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Retinal degeneration, Retinopathy, Chorioretinal ... |
OMIM:605670 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Acute kidney injury, Glomerulopathy, Renal cell carcinoma, Horseshoe kidney, Renal Fanconi syndro... |
ORPHA:93111 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Cystic renal dysplasia, Rod-cone dystrophy, Hydroureter |
OMIM:615989 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Microscopic hematuria, Renal tubular atrophy, Nephrocalcinosis, Glycosuria, Beta 2-microglobulinu... |
OMIM:308990 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Pigmentary retinopathy, Rod-cone dystrophy, Renal cyst |
OMIM:605231 |
Split-Hand/Foot Malformation 3 |
|
Renal hypoplasia |
OMIM:246560 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Unilateral renal agenesis, Abnormal external genitalia, Aplasia of... |
OMIM:158330 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Bone spicule pigmentation of the retina, Congenital stationary night blindness |
OMIM:610445 |
Noonan Syndrome 9 |
|
Hydroureter |
OMIM:616559 |
Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesangial hypercel... |
OMIM:616818 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Ectopic kidney, Unilateral renal agenesis, Renal agenesis |
OMIM:601076 |
Primary Hyperoxaluria Type 2 |
|
Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, Renal insufficiency, ... |
ORPHA:93599 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Hematuria, Nephritis |
OMIM:613944 |
Waardenburg Syndrome, Type 2E |
|
Hypoplasia of the semicircular canal, Dilated vestibule of the inner ear, Sensorineural hearing i... |
OMIM:611584 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Optic atrophy |
OMIM:620086 |
Cryptorchidism, Unilateral Or Bilateral |
|
Renal agenesis |
OMIM:219050 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Androgen Insensitivity, Partial |
|
Perineal hypospadias, Cryptorchidism, Micropenis, Hypogonadism, Azoospermia, Absent vas deferens,... |
OMIM:312300 |
Currarino Syndrome |
|
Vesicoureteral reflux, Hypospadias, Hypoplasia of penis |
ORPHA:1552 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Peripheral retinal avascularization, Subretinal exudate, Retinal vascular tortuosity, Retinal det... |
OMIM:305390 |
Oculorenocerebellar Syndrome |
|
Glomerular sclerosis, Nephropathy, Retinal degeneration |
OMIM:257970 |
Indomethacin Embryofetopathy |
|
Abnormal renal tubule morphology, Renal insufficiency, Multicystic kidney dysplasia, Nephropathy |
ORPHA:1909 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... |
OMIM:601718 |
Nephronophthisis 2 |
|
Renal cortical microcysts, Chronic tubulointerstitial nephritis, Absence of renal corticomedullar... |
OMIM:602088 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia, Retinopathy, Occipital encephalocele, Cerebellar hypoplasia, Molar t... |
OMIM:617562 |
Nephrotic Syndrome, Type 21 |
|
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Podocyte foot process effac... |
OMIM:618594 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Unilateral renal agenesis |
ORPHA:281090 |
Oliver-Mcfarlane Syndrome |
|
Cryptorchidism, Central heterochromia, Pigmentary retinopathy, Decreased response to growth hormo... |
OMIM:275400 |
Renal Tubular Dysgenesis |
|
Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis |
ORPHA:3033 |
Usher Syndrome, Type Iv |
|
Retinal atrophy, Hyperautofluorescent macular lesion, Retinal degeneration, Progressive sensorine... |
OMIM:618144 |
Meckel Syndrome, Type 10 |
|
Micropenis, Abnormal pinna morphology, Renal cyst, Occipital encephalocele, Dandy-Walker malforma... |
OMIM:614175 |
Joubert Syndrome 20 |
|
Retinopathy, Renal cyst |
OMIM:614970 |
Familial Exudative Vitreoretinopathy |
|
Abnormal optic disc morphology, Peripheral retinal avascularization, Vitreous floaters, Rhegmatog... |
ORPHA:891 |
Gómez-López-Hernández Syndrome |
|
Low-set ears, Hydrocephalus, Abnormal brainstem morphology, Abnormal cerebellum morphology, Cereb... |
ORPHA:1532 |
Focal Segmental Glomerulosclerosis 6 |
|
Renal tubular atrophy, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hematuria... |
OMIM:614131 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Abnormality of the ureter, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis |
ORPHA:1046 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Renal dysplasia, Renal hypoplasia, Urethral obstruction, Hypertrophy of the urinary bladder |
OMIM:601389 |
Diabetic Embryopathy |
|
Hydronephrosis, Renal hypoplasia/aplasia, Micropenis, Ureteral duplication |
ORPHA:1926 |
Nanophthalmos |
|
Abnormal choroid morphology, Abnormality of retinal pigmentation |
ORPHA:35612 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Unilateral renal agenesis, Micropenis |
OMIM:618504 |
Alagille Syndrome 2 |
|
Proteinuria, Renal cyst, Renal insufficiency, Hematuria, Renal tubular acidosis, Renal hypoplasia |
OMIM:610205 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia |
ORPHA:1166 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy |
OMIM:610951 |
Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Micropenis, Hypospadias |
OMIM:617516 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts |
OMIM:609886 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Retinal degeneration |
OMIM:614322 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Mesangial hypercellularity, Podocyte foot process effacement, Minimal change glomeru... |
OMIM:619201 |
Retinitis Pigmentosa 79 |
|
Macular atrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentati... |
OMIM:617460 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Reduced renal corticomedullary differentiation, Foca... |
OMIM:603278 |
Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... |
OMIM:312700 |
Cloacal Exstrophy |
|
Horseshoe kidney, Hydroureter, Ureteropelvic junction obstruction, Ectopic kidney, Renal hypoplas... |
ORPHA:93929 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Renal duplication, Ureteral duplication |
OMIM:270420 |
8Q12 Microduplication Syndrome |
|
Vesicoureteral reflux |
ORPHA:228399 |
Vacterl Association With Hydrocephalus |
|
Stillbirth, Renal hypoplasia |
OMIM:276950 |
Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome |
OMIM:616220 |
Focal Segmental Glomerulosclerosis 5 |
|
Microscopic hematuria, Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney di... |
OMIM:613237 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Polycystic kidney dysplasia, Hydronephrosis, Parathyroid hypoplasia, Hypoparathyroidism, Renal in... |
ORPHA:2237 |
Optic Atrophy 12 |
|
Optic atrophy, Optic disc pallor |
OMIM:618977 |
Retinitis Pigmentosa 73 |
|
Peripapillary atrophy, Retinal atrophy, Epiretinal membrane, Optic disc pallor, Bone spicule pigm... |
OMIM:616544 |
Distal 16P11.2 Microdeletion Syndrome |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Vesicoureteral reflux, Renal agen... |
ORPHA:261222 |
Renal And Mullerian Duct Hypoplasia |
|
Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Renal hypoplasia, Aplas... |
OMIM:266810 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
Morning Glory Disc Anomaly |
|
Optic disc coloboma, Retinal detachment, Abnormality of retinal pigmentation |
ORPHA:35737 |
Obsolete: Isolated Optic Nerve Hypoplasia/Aplasia |
|
Vesicoureteral reflux |
ORPHA:137902 |
Microphthalmia, Isolated 5 |
|
Foveoschisis, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, ... |
OMIM:611040 |
Nephronophthisis 19 |
|
Renal interstitial fibrosis, Hyperechogenic kidneys, Nephronophthisis, Stage 5 chronic kidney dis... |
OMIM:616217 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal cyst, Renal insufficiency, Retinal arteriolar tortuosity, Hematuria, Retinal hemorrhage |
OMIM:611773 |
Complete Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female internal genitalia, Femal... |
ORPHA:99429 |
Joubert Syndrome 14 |
|
Encephalocele, Low-set ears, Agenesis of cerebellar vermis, Morning glory anomaly, Hydrocephalus,... |
OMIM:614424 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Unilateral renal agenesis, Micropenis |
OMIM:244200 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
Nephrotic Syndrome, Type 15 |
|
Minimal change glomerulonephritis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 chr... |
OMIM:617609 |
Cone-Rod Dystrophy 5 |
|
Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy |
OMIM:600977 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Optic atrophy |
ORPHA:2773 |
Leber Congenital Amaurosis 4 |
|
Macular atrophy, Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy |
OMIM:604393 |
Abruzzo-Erickson Syndrome |
|
Cryptorchidism, Conductive hearing impairment, Iris coloboma, Chorioretinal coloboma, Sensorineur... |
ORPHA:921 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Ectopic kidney, Hearing impairment, Renal dysplasia, Azoospermia, Bicornuate uterus, Aplasia/hypo... |
ORPHA:2578 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, R... |
OMIM:193235 |
Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy |
OMIM:613758 |
Proteinuria, Chronic Benign |
|
Renal insufficiency, Proteinuria, Albuminuria |
OMIM:618884 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Ureteral agenesis, Optic nerve hypoplasia, Bilateral renal agenesis, Arrhinencephaly, Hyperechoge... |
OMIM:617914 |
Retinal Dystrophy And Obesity |
|
Peripapillary atrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood vessels, Re... |
OMIM:616188 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Pigmentary retinopathy, Abnormality of retinal pigmentation |
OMIM:179840 |
Exudative Vitreoretinopathy 1 |
|
Peripheral retinal avascularization, Vitreous floaters, Retinal exudate, Retinal detachment, Ecto... |
OMIM:133780 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Iron accumulation in substantia nigra, Retinal pigment epithelial mottling, Optic disc pallor, Ce... |
OMIM:619389 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Chorioretinal dysplasia, Retinal detachment, Optic disc pallor, Abnormality of retinal pigmentati... |
OMIM:251270 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Nephrotic syndrome |
OMIM:613779 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
Optic Atrophy 6 |
|
Optic atrophy |
OMIM:258500 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Optic atrophy, Hydrocephalus |
ORPHA:1538 |
Chudley-Mccullough Syndrome |
|
Severe sensorineural hearing impairment, Cerebellar dysplasia, Hydrocephalus, Ventriculomegaly, C... |
OMIM:604213 |
Nephrotic Syndrome, Type 12 |
|
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Optic disc hypoplasia, Coloboma |
OMIM:613703 |
Sacral Agenesis With Vertebral Anomalies |
|
Unilateral renal agenesis, Persistent cloaca, Neonatal death |
OMIM:615709 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal interstitial fibrosis, Enlarged kidney, Renal cyst, Reduced renal corticomedullary differen... |
OMIM:619902 |
Coloboma Of Macula With Type B Brachydactyly |
|
Renal agenesis, Coloboma |
OMIM:120400 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal cyst, Renal insufficiency, Neonatal death, Renal dysplasia, Stillbirth, Renal tubular acido... |
OMIM:614922 |
Thauvin-Robinet-Faivre Syndrome |
|
Bifid ureter, Renal cyst, Renal dysplasia, Renal malrotation, Nephroblastoma |
OMIM:617107 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Cofs Syndrome |
|
Hypogonadism, Death in infancy, Abnormality of retinal pigmentation, Sensorineural hearing impair... |
ORPHA:1466 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Agenesis of corpus callosum, Uraciluria, Coloboma |
OMIM:274270 |
Orofaciodigital Syndrome Xv |
|
Hydronephrosis, Low-set ears, Ventriculomegaly, Molar tooth sign on MRI, Cerebellar vermis hypopl... |
OMIM:617127 |
Retinitis Pigmentosa 4 |
|
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:613731 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
C3 Glomerulopathy |
|
Proteinuria, Acute kidney injury, Stage 5 chronic kidney disease, Chronic kidney disease, Nephrot... |
ORPHA:329918 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Glomerular sclerosis, Focal segmental glomeruloscler... |
OMIM:615573 |
Stargardt Disease |
|
Aplasia/Hypoplasia of the macula, Retinal pigment epithelial mottling, Macular degeneration, Reti... |
ORPHA:827 |
Neurodegeneration With Brain Iron Accumulation |
|
Retinopathy, Optic atrophy |
ORPHA:385 |
Beaulieu-Boycott-Innes Syndrome |
|
Horseshoe kidney, Recurrent urinary tract infections, Unilateral renal agenesis, Patent ductus ar... |
OMIM:613680 |
Congenital Bilateral Absence Of Vas Deferens |
|
Abnormal renal morphology, Absent vas deferens, Obstructive azoospermia, Oligospermia |
ORPHA:48 |
Fibronectin Glomerulopathy |
|
Microscopic hematuria, Proteinuria, Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Abno... |
ORPHA:84090 |
Partial Androgen Insensitivity Syndrome |
|
Perineal hypospadias, Elevated circulating luteinizing hormone level, Micropenis, Ambiguous genit... |
ORPHA:90797 |
Microphthalmia, Lenz Type |
|
Hydronephrosis, Iris coloboma, Hydroureter, Renal hypoplasia/aplasia, Chorioretinal coloboma, Opt... |
ORPHA:568 |
Coach Syndrome 2 |
|
Hydrocephalus, Chorioretinal coloboma, Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Col... |
OMIM:619111 |
Adenine Phosphoribosyltransferase Deficiency |
|
Recurrent urinary tract infections, Proteinuria, Acute kidney injury, Urinary retention, Uric aci... |
ORPHA:976 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:614173 |
Verheij Syndrome |
|
Renal cyst, Optic nerve hypoplasia, Renal agenesis, Renal hypoplasia, Coloboma |
OMIM:615583 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Retinitis Pigmentosa 1 |
|
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigment... |
OMIM:180100 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Unilateral renal agenesis, Crossed fused renal ectopia, Micropenis, Patent ductus arteriosus |
OMIM:618142 |
Retinitis Pigmentosa 54 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retin... |
OMIM:613428 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Attached earlobe, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... |
OMIM:616108 |
Familial Visceral Myopathy |
|
Hydroureter, Vesicoureteral reflux, Megacystis |
ORPHA:2604 |
Apert Syndrome |
|
Conductive hearing impairment, Hydrocephalus, Morphological abnormality of the semicircular canal... |
ORPHA:87 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hypernatriuria, Elevated circulating follicle stimulating hormone level, Generalized bronze hyper... |
ORPHA:168558 |
Abruzzo-Erickson Syndrome |
|
Protruding ear, Hearing impairment, Macrotia, Hypospadias, Coloboma |
OMIM:302905 |
Joubert Syndrome 10 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Low-set ears, Rod-cone dystrophy |
OMIM:300804 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor |
OMIM:614296 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic atrophy, Optic disc pallor |
OMIM:182830 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hypernatriuria, Elevated circulating follicle stimulating hormone level, Generalized bronze hyper... |
ORPHA:289548 |
Retinitis Pigmentosa |
|
Conductive hearing impairment, Hypogonadism, Abnormal retinal vascular morphology, Hypoplasia of ... |
ORPHA:791 |
Meckel Syndrome 14 |
|
Polycystic kidney dysplasia, Low-set ears, Ambiguous genitalia, Occipital encephalocele, Holopros... |
OMIM:619879 |
Mandibulofacial Dysostosis With Alopecia |
|
Hydroureter |
OMIM:616367 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal cranial nerve morphology, Holoprosencephaly, Synotia,... |
ORPHA:990 |
Usher Syndrome, Type 1M |
|
Optic disc pallor, Drusen |
OMIM:618632 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, Optic disc pallor, P... |
OMIM:617087 |
Fanconi Anemia, Complementation Group L |
|
Low-set ears, Micropenis, Hydrocephalus, Unilateral renal agenesis, Cafe-au-lait spot, Cerebellar... |
OMIM:614083 |
Branchiogenic Deafness Syndrome |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the inner ear, Underdeveloped tragus, Abnorm... |
ORPHA:50815 |
Burn-Mckeown Syndrome |
|
Unilateral renal agenesis, Renal hypoplasia |
OMIM:608572 |
Retinitis Pigmentosa 27 |
|
Macular atrophy, Peripapillary chorioretinal atrophy, Chorioretinal atrophy, Bone spicule pigment... |
OMIM:613750 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy |
OMIM:616079 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Hydronephrosis, Abnormality of the urinary system |
ORPHA:2669 |
Senior-Loken Syndrome 3 |
|
Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Polyuria |
OMIM:606995 |
Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degeneration, Bone spicule ... |
OMIM:600059 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Aminoaciduria, 3-Methylglutaconic aciduria, Renal hypoplasia, Lacticaciduria |
OMIM:604273 |
Joubert Syndrome 2 |
|
Encephalocele, Renal cyst, Hydrocephalus, Renal insufficiency, Nephronophthisis, Chorioretinal co... |
OMIM:608091 |
Autosomal Recessive Spastic Paraplegia Type 45 |
|
Optic atrophy |
ORPHA:320396 |
Jeune Syndrome |
|
Renal insufficiency, Nephropathy, Nephronophthisis |
ORPHA:474 |
Pontocerebellar Hypoplasia Type 7 |
|
Cryptorchidism, Micropenis, Ambiguous genitalia, Microphallus, Clitoral hypertrophy, Olivopontoce... |
ORPHA:284339 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Micropenis, Patent ductus arteriosus, Renal agenesis, Renal hypoplasia, Hypospadias |
ORPHA:171839 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:618613 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy |
OMIM:551500 |
Spasticity, Childhood-Onset, With Hyperglycinemia |
|
Optic atrophy |
OMIM:616859 |
Chopra-Amiel-Gordon Syndrome |
|
Unilateral renal agenesis |
OMIM:619504 |
Penoscrotal Transposition |
|
Penoscrotal transposition, Abnormality of the ureter, Renal dysplasia, Abnormality of the urethra... |
ORPHA:2842 |
Nphp3-Related Meckel-Like Syndrome |
|
Renal dysplasia, Multicystic kidney dysplasia |
ORPHA:3032 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial mottling, Pigmentary retinopathy, Cystoid macular edema, Retinal thinn... |
ORPHA:41751 |
Leber Congenital Amaurosis 9 |
|
Macular atrophy, Retinal pigment epithelial mottling, Optic disc pallor, Macular coloboma, Retina... |
OMIM:608553 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Renal hypoplasia, Hypoplasia of penis |
ORPHA:2256 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Renal insufficiency, Nephropathy, Ne... |
OMIM:162000 |
Leber Congenital Amaurosis 1 |
|
Pigmentary retinopathy, Fundus atrophy, Hyperthreoninuria, Sensorineural hearing impairment, Atte... |
OMIM:204000 |
3-Methylglutaconic Aciduria, Type Iii |
|
3-Methylglutaric aciduria, Optic atrophy, 3-Methylglutaconic aciduria |
OMIM:258501 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Unilateral renal hypoplasia, Vesicoureteral reflux |
OMIM:619955 |
Orofaciodigital Syndrome Xvii |
|
Micropenis, Renal hypoplasia |
OMIM:617926 |
Hadziselimovic Syndrome |
|
Renal hypoplasia |
OMIM:612946 |
Mungan Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:611376 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Cryptorchidism, Abnormal pons morphology, Micropenis, Pigmentary retinopathy, Facial palsy, Cereb... |
ORPHA:370968 |
Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning |
OMIM:620228 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
Even-Plus Syndrome |
|
Recurrent urinary tract infections, Vesicoureteral reflux, Renal hypoplasia |
OMIM:616854 |
Acrorenal Syndrome |
|
Abnormal renal morphology, Renal insufficiency, Renal hypoplasia/aplasia |
ORPHA:971 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Optic atrophy |
OMIM:611726 |
Hydrolethalus Syndrome 2 |
|
Ventriculomegaly, Molar tooth sign on MRI, Anencephaly, Hydrocephalus |
OMIM:614120 |
Nephronophthisis-Like Nephropathy 1 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Tubular basement membrane disintegration, ... |
OMIM:613159 |
Progressive Bifocal Chorioretinal Atrophy |
|
Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy |
ORPHA:75373 |
Leber Congenital Amaurosis 2 |
|
Pigmentary retinopathy, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, ... |
OMIM:204100 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Nephrolithiasis, Focal ... |
OMIM:614650 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Stage 5 chronic kidney disease, Nephronophthisis, Glomerular subepithe... |
OMIM:616307 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Optic disc coloboma, Macular atrophy, Chorioretinal coloboma, Iris coloboma |
OMIM:602499 |
Macular Dystrophy With Central Cone Involvement |
|
Perifoveal ring of hyperautofluorescence, Optic disc pallor, Bull's eye maculopathy, Macular dyst... |
OMIM:616170 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Congenital adrenal hyperplasia, Elevated circulating luteinizing hormone level, Micropenis, Ambig... |
ORPHA:90793 |
Retinitis Pigmentosa 90 |
|
Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of retinal blood vess... |
OMIM:619007 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Papilledema, Retinal arteriolar constriction |
OMIM:124950 |
Coloboma, Ocular, Autosomal Recessive |
|
Optic disc coloboma, Iris coloboma, Retinal coloboma |
OMIM:216820 |
Cenani-Lenz Syndactyly Syndrome |
|
Ectopic kidney, Renal agenesis, Renal hypoplasia |
OMIM:212780 |
Retinitis Pigmentosa 84 |
|
Macular atrophy, Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retina... |
OMIM:618220 |
Infantile-Onset Spinocerebellar Ataxia |
|
Optic atrophy, Abnormality of the autonomic nervous system |
ORPHA:1186 |
Joubert Syndrome With Hepatic Defect |
|
Iris coloboma, Hydrocephalus, Renal insufficiency, Occipital encephalocele, Nephropathy, Choriore... |
ORPHA:1454 |
Meckel Syndrome 12 |
|
Low-set ears, Agenesis of cerebellar vermis, Hypoplasia of the uterus, Vaginal atresia, Cerebella... |
OMIM:616258 |
Achromatopsia |
|
Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Retina... |
ORPHA:49382 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ectopic kidney, Cystic renal dysplasia, Neonatal death |
OMIM:613730 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal cochlea morphology, Prelingual sensorineural hearin... |
ORPHA:52368 |
Retinitis Pigmentosa 68 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal atrophy |
OMIM:615725 |
Codas Syndrome |
|
Hydroureter |
ORPHA:1458 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Abnormality of macular pigmentati... |
OMIM:300476 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Hydrocephalus, Hypospadias, Hypogonadotropic hypogonadism, Coloboma |
ORPHA:141333 |
Retinitis Pigmentosa 12 |
|
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigment... |
OMIM:600105 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:614180 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:431329 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Nephronophthisis 11 |
|
Renal tubular atrophy, Stage 5 chronic kidney disease, Tubular basement membrane disintegration, ... |
OMIM:613550 |
Warsaw Breakage Syndrome |
|
Optic disc coloboma, Cupped ear, Hypoplasia of the cochlea, Hearing impairment |
OMIM:613398 |
Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... |
OMIM:608133 |
Williams-Beuren Region Duplication Syndrome |
|
Hydronephrosis, Unilateral renal agenesis, Patent ductus arteriosus |
OMIM:609757 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Iris coloboma, Retinal detachment, Chorioretinal coloboma, Hematuria, Optic atrophy |
ORPHA:1473 |
Retinitis Pigmentosa 78 |
|
Optic disc pallor, Cystoid macular edema |
OMIM:617433 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Nephrotic Syndrome, Type 2 |
|
Proteinuria, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome |
OMIM:600995 |
Mental Retardation With Optic Atrophy, Deafness, And Seizures |
|
Optic atrophy |
OMIM:309555 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Hematuria, Nephritis |
OMIM:161950 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Hydroureter, Multicystic kidney dysplasia, Megacystis |
ORPHA:2241 |
Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst |
OMIM:611560 |
Senior-Loken Syndrome 1 |
|
Thickening of the tubular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency,... |
OMIM:266900 |
Joubert Syndrome 1 |
|
Occipital myelomeningocele, Renal cyst, Optic disc pallor, Nephropathy, Chorioretinal coloboma, R... |
OMIM:213300 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613801 |
Thrombocytopenia-Absent Radius Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of the kidney, Horseshoe kidney, Sensorineural hea... |
ORPHA:3320 |
Joubert Syndrome 36 |
|
Molar tooth sign on MRI, Sensorineural hearing impairment |
OMIM:618763 |
Coach Syndrome 1 |
|
Stage 5 chronic kidney disease, Renal cyst, Unilateral renal agenesis, Optic disc pallor, Nephron... |
OMIM:216360 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
ORPHA:95433 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Chronic tubulointerstitial nephritis, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney dis... |
OMIM:614376 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst |
OMIM:617056 |
Endove Syndrome, Limb-Only Type |
|
Hydronephrosis, Vesicoureteral reflux |
OMIM:619217 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Bifid ureter, Enlarged kidney, Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma |
ORPHA:500095 |
Duplication Of Urethra |
|
Recurrent urinary tract infections, Micropenis, Rectourethral fistula, Epispadias, Urinary incont... |
ORPHA:237 |
Renal Hypoplasia, Bilateral |
|
Microscopic hematuria, Proteinuria, Glycosuria, Chronic kidney disease, Beta 2-microglobulinuria,... |
ORPHA:97362 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Hydronephrosis, Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of th... |
OMIM:271520 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Ketonuria, Renal hypoplasia |
OMIM:619053 |
Maternally-Inherited Diabetes And Deafness |
|
Proteinuria, Glomerulopathy, Renal insufficiency, Macular dystrophy, Retinopathy, Abnormal chorio... |
ORPHA:225 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Microscopic hematuria, Proteinuria, Glomerulonephritis, Acute kidney injury, Glomerular C3 deposi... |
ORPHA:567544 |
Senior-Loken Syndrome 9 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Tubulointerstitial nephritis |
OMIM:616629 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Low-set ears, Agenesis of cerebellar vermis, Hydrocephalus, Posteriorly rotated ears, Abnormal br... |
ORPHA:163961 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Pigmentary retinopathy, Optic disc pallor, Attenuation of retinal blood ... |
OMIM:604116 |
Pelvis-Shoulder Dysplasia |
|
Optic disc coloboma, Spina bifida occulta, Iris coloboma |
OMIM:169550 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy, Hearing impairment |
OMIM:619090 |
Septopreoptic Holoprosencephaly |
|
Hypoplasia of the pons, Abnormal midbrain morphology, Ethmoidal encephalocele, Rhombencephalosyna... |
ORPHA:280195 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Horseshoe kidney, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney |
ORPHA:3109 |
Otofaciocervical Syndrome 1 |
|
Cupped ear, Conductive hearing impairment, Hypoplasia of the cochlea, Mixed hearing impairment |
OMIM:166780 |
Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Stage 5 chronic kidney disease, Neonatal death, Renal cyst |
OMIM:613390 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
|