Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Deafness, Autosomal Dominant 85 |
|
Sensorineural hearing impairment, Cochlear nerve hypoplasia |
OMIM:620227 |
Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Ureter, Cancer Of |
|
Neoplasm of the ureter |
OMIM:191600 |
Vesicoureteral Reflux 8 |
|
Duplicated collecting system, Recurrent urinary tract infections, Vesicoureteral reflux |
OMIM:615963 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Vesicoureteral Reflux, X-Linked |
|
Vesicoureteral reflux |
OMIM:314550 |
Vesicoureteral Reflux 1 |
|
Vesicoureteral reflux |
OMIM:193000 |
Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
Nephronophthisis 7 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy |
OMIM:611498 |
Deafness-Oligodontia Syndrome |
|
Vertigo, Abnormality of the inner ear, Sensorineural hearing impairment |
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 |
Retinitis Pigmentosa 42 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Peripapillary atrophy, Cystoid macu... |
OMIM:612943 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... |
OMIM:236730 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Rod-cone dystrophy, Retinal dystrophy, Renal cyst |
OMIM:615987 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis |
OMIM:274265 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Nephronophthisis 12 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613820 |
Renal Coloboma Syndrome |
|
Multicystic kidney dysplasia, Renal insufficiency, Optic disc coloboma, Optic nerve dysplasia, Re... |
ORPHA:1475 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Senior-Loken Syndrome 5 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:609254 |
Deafness, Autosomal Dominant 23 |
|
Vesicoureteral reflux |
OMIM:605192 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Ureterocele |
|
Duplicated collecting system, Ureterocele |
OMIM:191650 |
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 insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Holzgreve Syndrome |
|
Renal agenesis, Renal hypoplasia |
OMIM:236110 |
Auditory Neuropathy And Optic Atrophy |
|
Rod-cone dystrophy, Optic atrophy |
OMIM:617717 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Rod-cone dystrophy, Retinal dystrophy, Stage 5 chronic kidney disease |
OMIM:615995 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Hydroureter, Fetal megacystis |
OMIM:249210 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts, Retinal vascular tortuosity |
ORPHA:73229 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia/aplasia, Abnorm... |
ORPHA:107 |
Branchiootorenal Syndrome 2 |
|
Renal insufficiency, Renal dysplasia |
OMIM:610896 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Cochlear degeneration |
ORPHA:3233 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vesicoureteral reflux, Hydroureter, Nephrolithiasis |
OMIM:617219 |
Oligomeganephronia |
|
Branchial cyst, Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Opt... |
ORPHA:2260 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... |
OMIM:611555 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2487 |
Nephronophthisis |
|
Abnormality of retinal pigmentation, Renal insufficiency |
ORPHA:655 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... |
OMIM:614377 |
Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Rod-cone dystrop... |
OMIM:615993 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Rod-cone dystrophy |
OMIM:615991 |
Optic Atrophy 2 |
|
Optic atrophy |
OMIM:311050 |
Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant |
|
Optic atrophy |
OMIM:165199 |
2p15-16.1 microdeletion syndrome |
|
Optic disc hypoplasia, Hydronephrosis |
DECIPHER:70 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Senior-Loken Syndrome 7 |
|
Nephronophthisis |
OMIM:613615 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Optic disc pallor, Hydroureter, Hydronephrosis |
OMIM:618240 |
Branchiootic Syndrome 1 |
|
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
Optic Atrophy--Spastic Paraplegia Syndrome |
|
Optic atrophy |
OMIM:311100 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Retinal degeneration, Nephronophthisis |
OMIM:614844 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Optic atrophy, Attenuation of retinal blood vessels |
OMIM:165510 |
Wolfram Syndrome, Mitochondrial Form |
|
Hydronephrosis, Hydroureter, Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:598500 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Abnormality of the bladder |
ORPHA:2547 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy |
OMIM:136600 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Drusen, Chronic kidney disease, Stage 5 chronic kidney disease,... |
ORPHA:54370 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Proteinuria, Septate vagina, Sensorineural hearing impairment, Chronic kidney... |
OMIM:146255 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe... |
OMIM:617610 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Optic Atrophy 9 |
|
Optic disc pallor, Optic atrophy |
OMIM:616289 |
Lessel-Kubisch Syndrome |
|
Renal insufficiency, Renal hypoplasia |
OMIM:618681 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Unilateral renal agenesis |
OMIM:235740 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
Intracranial Hypertension, Idiopathic |
|
Papilledema |
OMIM:243200 |
Lower Urinary Tract Obstruction, Congenital |
|
Urinary incontinence, Urethral stenosis, Pollakisuria, Congenital posterior urethral valve, Vesic... |
OMIM:618612 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology |
OMIM:602114 |
Bardet-Biedl Syndrome 4 |
|
Renal cyst, Rod-cone dystrophy, Abnormality of the kidney, Retinal degeneration |
OMIM:615982 |
Choroideremia |
|
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... |
OMIM:303100 |
Caudal Duplication |
|
Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia |
ORPHA:1756 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ureteral duplication, Renal agenesis, Horseshoe kidney, Ectopic kidney |
OMIM:602200 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Carnosinuria |
OMIM:236130 |
Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Pendred Syndrome |
|
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... |
ORPHA:705 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
Glaucoma 1, Open Angle, P |
|
Increased cup-to-disc ratio |
OMIM:177700 |
Retinitis Pigmentosa 71 |
|
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... |
OMIM:616394 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottling, ... |
OMIM:618889 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... |
OMIM:620049 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Joubert Syndrome 22 |
|
Coloboma, Retinal dysplasia, Renal hypoplasia |
OMIM:615665 |
Joubert Syndrome 15 |
|
Retinal dystrophy, Exencephaly, Coloboma, Nephronophthisis, Ambiguous genitalia, Micropenis, Reti... |
OMIM:614464 |
Meier-Gorlin Syndrome 8 |
|
Unilateral renal hypoplasia, Nephroptosis |
OMIM:617564 |
Joubert Syndrome 16 |
|
Encephalocele, Retinal dystrophy, Renal cyst, Coloboma, Nephronophthisis |
OMIM:614465 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect, Gonadal dysgenesis, Retinal dysplasia |
OMIM:615041 |
Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy |
OMIM:600057 |
Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration |
OMIM:609021 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Patent ductus arteriosus, Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis |
OMIM:618845 |
Isolated Epispadias |
|
Anteriorly displaced urethral meatus, Epispadias, Vesicoureteral reflux, Urinary incontinence |
ORPHA:93928 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... |
OMIM:300614 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Renal insufficiency, Optic atrophy, Nephrotic syndrome, Retinal arte... |
OMIM:249660 |
Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Renal hypoplasia |
OMIM:600151 |
Camos Syndrome |
|
Nephrotic syndrome, Renal insufficiency, Optic atrophy |
ORPHA:83472 |
Joubert Syndrome 4 |
|
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... |
OMIM:609583 |
Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... |
OMIM:619263 |
Spastic Ataxia 7, Autosomal Dominant |
|
Optic atrophy |
OMIM:108650 |
Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
Patent ductus arteriosus, Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis |
OMIM:617661 |
Branchiootorenal Syndrome 1 |
|
Renal malrotation, Mixed hearing impairment, Facial palsy, Unilateral renal agenesis, Dilatated i... |
OMIM:113650 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Papillorenal Syndrome |
|
Retinal detachment, Multicystic kidney dysplasia, Renal malrotation, Proteinuria, Morning glory a... |
OMIM:120330 |
Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231183 |
Ribose 5-Phosphate Isomerase Deficiency |
|
Increased level of ribose in urine, Increased level of ribitol in urine, Increased level of xylit... |
OMIM:608611 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy |
ORPHA:2253 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... |
OMIM:617641 |
Autosomal Recessive Primary Microcephaly |
|
Vesicoureteral reflux, Unilateral renal agenesis |
ORPHA:2512 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Coloboma Of Macula-Brachydactyly Type B Syndrome |
|
Renal agenesis, Chorioretinal coloboma |
ORPHA:1471 |
Cystinuria |
|
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... |
OMIM:220100 |
Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis |
OMIM:161900 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Nephrosialidosis |
|
Nephropathy, Nephrotic syndrome, Renal insufficiency, Death in childhood |
OMIM:256150 |
Ceroid Lipofuscinosis, Neuronal, 9 |
|
Rod-cone dystrophy, Optic atrophy |
OMIM:609055 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Woolly Hair Nevus |
|
Enlarged vestibular aqueduct |
ORPHA:79414 |
Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... |
OMIM:303110 |
Ocular Pigment Dispersion With Or Without Glaucoma |
|
Optic atrophy |
OMIM:600510 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616893 |
Coach Syndrome 3 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht... |
OMIM:619113 |
Usher Syndrome Type 1 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction |
ORPHA:231169 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... |
OMIM:143200 |
Ocular Motor Apraxia |
|
Nephronophthisis |
OMIM:257550 |
Prune Belly Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... |
ORPHA:2970 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:2613 |
Nephronophthisis 16 |
|
Renal insufficiency, Patent ductus arteriosus, Stage 5 chronic kidney disease, Polycystic kidney ... |
OMIM:615382 |
Macular Dystrophy, Retinal, 2 |
|
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... |
OMIM:608051 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Nephronophthisis 15 |
|
Nephronophthisis |
OMIM:614845 |
Prune Belly Syndrome |
|
Hydroureter, Congenital posterior urethral valve, Hydronephrosis |
OMIM:100100 |
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy |
|
Optic disc pallor, Optic atrophy |
OMIM:618511 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Optic atrophy, Retinal dystrophy |
OMIM:614706 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... |
ORPHA:97341 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... |
OMIM:120200 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Bardet-Biedl Syndrome 19 |
|
Cone/cone-rod dystrophy, Renal insufficiency, Renal hypoplasia, Rod-cone dystrophy, Hydronephrosis |
OMIM:615996 |
Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... |
OMIM:615862 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure... |
ORPHA:3027 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis |
OMIM:619362 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Renal cyst |
OMIM:614870 |
Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria |
OMIM:607832 |
Retinitis Pigmentosa 63 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614494 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
Cleft Lip-Retinopathy Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1995 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Optic atrophy |
OMIM:165300 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Hydroureter, Optic atrophy, Pigmentary retinopathy, Hydronephrosis |
OMIM:222300 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:615990 |
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Abnormality of retinal pigmentation, Macular coloboma, Nephrolithiasis, Hematuria, Chorioretinal ... |
ORPHA:2196 |
Spastic Paraplegia 74, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy |
OMIM:616451 |
Nephrotic Syndrome, Type 17 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:618176 |
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 |
Senior-Loken Syndrome |
|
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis |
ORPHA:3156 |
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To |
|
Nonarteritic anterior ischemic optic neuropathy |
OMIM:258660 |
Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Abnormal localization of kidney, Chorioretinal coloboma, Iris coloboma,... |
ORPHA:195 |
Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Megacystis, Hydronephrosis |
OMIM:619431 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia, Unilateral renal agenesis, Olivopontocerebellar hypoplasia, Hydrocephalus... |
ORPHA:457284 |
Waardenburg Syndrome, Type 1 |
|
White eyelashes, Partial albinism, White eyebrow, Spina bifida, Congenital sensorineural hearing ... |
OMIM:193500 |
Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
Keratoconus Posticus Circumscriptus |
|
Vesicoureteral reflux, Recurrent urinary tract infections |
OMIM:244600 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2246 |
Complement Factor H Deficiency |
|
Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g... |
OMIM:609814 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Optic atrophy, Chorioretinal coloboma |
ORPHA:2732 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Radial-Renal Syndrome |
|
Unilateral renal agenesis, Ectopic kidney |
OMIM:179280 |
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 |
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation |
|
Unilateral renal agenesis |
OMIM:206750 |
Cone-Rod Dystrophy 17 |
|
Cone/cone-rod dystrophy, Optic disc pallor |
OMIM:615163 |
Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic... |
OMIM:615008 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Optic atrophy |
OMIM:618572 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy |
OMIM:613862 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
Bresek Syndrome |
|
Renal dysplasia, Hypoplasia of the bladder, Aganglionic megacolon, Optic nerve hypoplasia, Hydroc... |
ORPHA:85284 |
Renal Agenesis |
|
Renal insufficiency, Absent vas deferens, Proteinuria, Renal agenesis, Unilateral renal agenesis,... |
ORPHA:411709 |
Night Blindness, Congenital Stationary, Type 1G |
|
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy |
OMIM:616389 |
Multiple Mitochondrial Dysfunctions Syndrome 4 |
|
Optic atrophy |
OMIM:616370 |
Spastic Paraplegia 43, Autosomal Recessive |
|
Optic atrophy |
OMIM:615043 |
Spastic Paraplegia 57, Autosomal Recessive |
|
Optic atrophy |
OMIM:615658 |
Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... |
ORPHA:85128 |
Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... |
OMIM:617123 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Sensorineural hearing impairment, Peripapillary atrophy, Ret... |
OMIM:617879 |
Usher Syndrome, Type Iiib |
|
Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels |
OMIM:614504 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Unilateral renal agenesis |
OMIM:601355 |
X-Linked Intellectual Disability, Schimke Type |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:85285 |
Retinitis Pigmentosa 26 |
|
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:608380 |
Bladder Exstrophy |
|
Recurrent urinary tract infections, Hypoplasia of penis, Epispadias, Abnormality of the ureter, V... |
ORPHA:93930 |
Nephronophthisis 1 |
|
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hyposthenuria... |
OMIM:256100 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos... |
ORPHA:223 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
Knobloch Syndrome |
|
Vesicoureteral reflux, Bifid ureter |
ORPHA:1571 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Rod-cone dystrophy, Cystic renal dysplasia, Hydroureter |
OMIM:615989 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Renal insufficien... |
ORPHA:93111 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Renal agenesis, Unilateral renal agenesis, Ectopic kidney |
OMIM:601076 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Hypospadias, Renal cyst |
OMIM:605231 |
Split-Hand/Foot Malformation 3 |
|
Renal hypoplasia |
OMIM:246560 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal... |
OMIM:158330 |
Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:610445 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Unil... |
OMIM:614527 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Noonan Syndrome 9 |
|
Hydroureter |
OMIM:616559 |
Joubert Syndrome 20 |
|
Retinopathy, Renal cyst |
OMIM:614970 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy |
OMIM:610951 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... |
OMIM:616818 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Vanishing testis, El... |
OMIM:273250 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:613944 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Optic atrophy |
OMIM:620086 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Cryptorchidism, Unilateral Or Bilateral |
|
Renal agenesis |
OMIM:219050 |
Indomethacin Embryofetopathy |
|
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology |
ORPHA:1909 |
Meckel Syndrome 13 |
|
Occipital encephalocele, Cerebellar hypoplasia, Polycystic kidney dysplasia, Molar tooth sign on ... |
OMIM:617562 |
Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... |
OMIM:602088 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Oculorenocerebellar Syndrome |
|
Glomerular sclerosis, Nephropathy, Retinal degeneration |
OMIM:257970 |
Currarino Syndrome |
|
Vesicoureteral reflux, Hypoplasia of penis, Hypospadias |
ORPHA:1552 |
Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Renal dysplasia |
OMIM:236500 |
Nephrotic Syndrome, Type 21 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... |
OMIM:618594 |
Renal Tubular Dysgenesis |
|
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts |
ORPHA:3033 |
Usher Syndrome, Type Iv |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Hyperautofluorescent macular lesion, Se... |
OMIM:618144 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Abnormality of the ureter, Hypospadias, Renal hypoplasia/aplasia |
ORPHA:1046 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Unilateral renal agenesis |
ORPHA:281090 |
Gómez-López-Hernández Syndrome |
|
Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Hydrocephalus, Abnormal brainstem m... |
ORPHA:1532 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Urethral obstruction, Renal dysplasia, Renal hypoplasia, Hypertrophy of the urinary bladder |
OMIM:601389 |
Diabetic Embryopathy |
|
Ureteral duplication, Micropenis, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:1926 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia |
ORPHA:1166 |
Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Micropenis, Unilateral renal agenesis |
OMIM:618504 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis |
OMIM:610205 |
Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Micropenis, Hypospadias |
OMIM:617516 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... |
OMIM:603278 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology |
OMIM:609886 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Retinal degeneration |
OMIM:614322 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... |
OMIM:619201 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
Waardenburg Syndrome, Type 2E |
|
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... |
OMIM:611584 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Oliver-Mcfarlane Syndrome |
|
Peripheral axonal neuropathy, Hypoplasia of penis, Central heterochromia, Pigmentary retinopathy,... |
OMIM:275400 |
Vacterl Association With Hydrocephalus |
|
Stillbirth, Renal hypoplasia |
OMIM:276950 |
8Q12 Microduplication Syndrome |
|
Vesicoureteral reflux |
ORPHA:228399 |
Cloacal Exstrophy |
|
Hypoplasia of penis, Hydroureter, Ectopic kidney, Renal hypoplasia/aplasia, Horseshoe kidney, Ure... |
ORPHA:93929 |
Optic Atrophy 12 |
|
Optic disc pallor, Optic atrophy |
OMIM:618977 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Renal agenesis, Hearing impairment, Ectopic kidney, Azoospermia, Bicornuate uterus, Renal dysplas... |
ORPHA:2578 |
Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome |
OMIM:616220 |
Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Vesicoureteral re... |
ORPHA:261222 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Renal duplication |
OMIM:270420 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Hypoparathyroidism, Renal insufficiency, Septate vagina, Unilateral renal agenes... |
ORPHA:2237 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Retinal arteriolar tortuosity, Retinal hemorrhage, Renal cyst, Hematuria |
OMIM:611773 |
7Q31 Microdeletion Syndrome |
|
Hypoplasia of the cochlea, Hypoplasia of the semicircular canal, Low-set ears, Enlarged cochlear ... |
ORPHA:251061 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Nephronophthisis 19 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid... |
OMIM:616217 |
Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration |
OMIM:600977 |
Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
Joubert Syndrome 14 |
|
Encephalocele, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Agenesis of cerebellar ver... |
OMIM:614424 |
Nephrotic Syndrome, Type 15 |
|
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... |
OMIM:617609 |
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Micropenis, Unilateral renal agenesis |
OMIM:244200 |
Congenital Bilateral Absence Of Vas Deferens |
|
Abnormal renal morphology, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Meckel Syndrome, Type 10 |
|
Dilated fourth ventricle, Occipital encephalocele, Abnormal pinna morphology, Hypospadias, Anence... |
OMIM:614175 |
Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... |
OMIM:616188 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Optic disc pallor, Optic atrophy |
OMIM:614296 |
Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy |
OMIM:613758 |
Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Optic atrophy |
ORPHA:2773 |
Optic Atrophy 6 |
|
Optic atrophy |
OMIM:258500 |
Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Optic disc pallor, Retinal pigment epithelial mottling, Iron accumulation in ... |
OMIM:619389 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis |
OMIM:613779 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst |
OMIM:174050 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Optic atrophy |
ORPHA:1538 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla... |
OMIM:619902 |
Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia |
OMIM:613703 |
Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:604393 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Cerebellar hypoplasia, Severe sensorineural hearing impairment, Ventriculomegaly, ... |
OMIM:604213 |
Orofaciodigital Syndrome Xv |
|
Cerebellar vermis hypoplasia, Low-set ears, Molar tooth sign on MRI, Hydronephrosis, Ventriculome... |
OMIM:617127 |
Coloboma Of Macula With Type B Brachydactyly |
|
Coloboma, Renal agenesis |
OMIM:120400 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia |
OMIM:617107 |
Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating luteinizing hormone... |
ORPHA:99429 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Coloboma, Uraciluria, Agenesis of corpus callosum, Optic atrophy |
OMIM:274270 |
Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... |
OMIM:613731 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Death in infancy, Sensorineural hearing impairment, Optic at... |
ORPHA:1466 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stillbirth, Neonatal d... |
OMIM:614922 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Drusen, Glomer... |
ORPHA:329918 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... |
OMIM:615573 |
Renal And Mullerian Duct Hypoplasia |
|
Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Aplas... |
OMIM:266810 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi... |
ORPHA:84090 |
Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Beaulieu-Boycott-Innes Syndrome |
|
Patent ductus arteriosus, Recurrent urinary tract infections, Unilateral renal agenesis, Horsesho... |
OMIM:613680 |
Abruzzo-Erickson Syndrome |
|
Hypospadias, Coronal hypospadias, Sensorineural hearing impairment, Cryptorchidism, Abnormal loca... |
ORPHA:921 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic disc pallor, Optic atrophy |
OMIM:182830 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:614173 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Optic disc coloboma, Hydronephrosis, Choriore... |
ORPHA:568 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Attached earlobe, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Re... |
OMIM:616108 |
Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Patent ductus arteriosus, Micropenis, Crossed fused renal ectopia, Unilateral renal agenesis |
OMIM:618142 |
Verheij Syndrome |
|
Renal agenesis, Optic nerve hypoplasia, Renal hypoplasia, Renal cyst, Coloboma |
OMIM:615583 |
Familial Visceral Myopathy |
|
Vesicoureteral reflux, Hydroureter, Megacystis |
ORPHA:2604 |
Retinitis Pigmentosa 54 |
|
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... |
OMIM:613428 |
Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... |
OMIM:620342 |
Coach Syndrome 2 |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Coloboma, Chorioretinal coloboma, Molar tooth sign o... |
OMIM:619111 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... |
ORPHA:90797 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Hyperechog... |
OMIM:617914 |
Apert Syndrome |
|
Sensorineural hearing impairment, Hydrocephalus, Optic atrophy, Abnormal semicircular canal morph... |
ORPHA:87 |
Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Hydrocephalus, Renal hypoplasia, Anotia, Microtia, Cerebellar hypoplas... |
OMIM:614083 |
Joubert Syndrome 10 |
|
Molar tooth sign on MRI, Rod-cone dystrophy, Low-set ears, Cerebellar vermis hypoplasia |
OMIM:300804 |
Abruzzo-Erickson Syndrome |
|
Hypospadias, Protruding ear, Coloboma, Macrotia, Hearing impairment |
OMIM:302905 |
Branchiogenic Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... |
ORPHA:50815 |
Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Unilateral renal agenesis, Persistent cloaca |
OMIM:615709 |
Meckel Syndrome 14 |
|
Occipital encephalocele, Holoprosencephaly, Aplasia of the uterus, Low-set ears, Ambiguous genita... |
OMIM:619879 |
Mandibulofacial Dysostosis With Alopecia |
|
Hydroureter |
OMIM:616367 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona... |
OMIM:617087 |
Usher Syndrome, Type 1M |
|
Drusen, Optic disc pallor |
OMIM:618632 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Optic disc pallor, Retinal dystrophy |
OMIM:616079 |
Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... |
OMIM:613750 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Burn-Mckeown Syndrome |
|
Renal hypoplasia, Unilateral renal agenesis |
OMIM:608572 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Renal salt wasting, Sex reversal, Ambiguous genitalia, male, Agenesis of corpus callosum, General... |
ORPHA:168558 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Autosomal Recessive Spastic Paraplegia Type 45 |
|
Optic atrophy |
ORPHA:320396 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Renal hypoplasia |
OMIM:604273 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Holoprosencephaly, Synotia, Narrow internal auditory canal, Ab... |
ORPHA:990 |
Joubert Syndrome 2 |
|
Encephalocele, Renal insufficiency, Retinal dystrophy, Hydrocephalus, Optic disc coloboma, Renal ... |
OMIM:608091 |
Jeune Syndrome |
|
Nephropathy, Renal insufficiency, Nephronophthisis |
ORPHA:474 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Renal salt wasting, Sex reversal, Ambiguous genitalia, male, Agenesis of corpus callosum, General... |
ORPHA:289548 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Renal agenesis, Hypospadias, Patent ductus arteriosus, Renal hypoplasia, Micropenis |
ORPHA:171839 |
Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Renal dysplasia |
ORPHA:3032 |
Spasticity, Childhood-Onset, With Hyperglycinemia |
|
Optic atrophy |
OMIM:616859 |
Penoscrotal Transposition |
|
Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Abnormality o... |
ORPHA:2842 |
Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
Chopra-Amiel-Gordon Syndrome |
|
Unilateral renal agenesis |
OMIM:619504 |
Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Vesicoureteral reflux, Unilateral renal hypoplasia |
OMIM:619955 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of penis, Renal hypoplasia |
ORPHA:2256 |
Even-Plus Syndrome |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Renal hypoplasia |
OMIM:616854 |
3-Methylglutaconic Aciduria, Type Iii |
|
3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Optic atrophy |
OMIM:258501 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular filtrati... |
OMIM:162000 |
Orofaciodigital Syndrome Xvii |
|
Micropenis, Renal hypoplasia |
OMIM:617926 |
Hadziselimovic Syndrome |
|
Renal hypoplasia |
OMIM:612946 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Optic atrophy |
OMIM:611726 |
Mungan Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:611376 |
Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning |
OMIM:620228 |
Retinitis Pigmentosa |
|
Abnormality of retinal pigmentation, Hypoplasia of penis, Abnormal retinal vascular morphology, S... |
ORPHA:791 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy |
OMIM:609016 |
Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal... |
OMIM:613159 |
Acrorenal Syndrome |
|
Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia |
ORPHA:971 |
Pontocerebellar Hypoplasia Type 7 |
|
Olivopontocerebellar hypoplasia, Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Hypopl... |
ORPHA:284339 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St... |
OMIM:616307 |
Williams-Beuren Region Duplication Syndrome |
|
Patent ductus arteriosus, Hydronephrosis, Unilateral renal agenesis |
OMIM:609757 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
Macrophthalmia, Colobomatous, With Microcornea |
|
Iris coloboma, Optic disc coloboma, Macular atrophy, Chorioretinal coloboma |
OMIM:602499 |
Macular Dystrophy With Central Cone Involvement |
|
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... |
OMIM:616170 |
Infantile-Onset Spinocerebellar Ataxia |
|
Abnormality of the autonomic nervous system, Optic atrophy |
ORPHA:1186 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Papilledema, Retinal arteriolar constriction |
OMIM:124950 |
Cenani-Lenz Syndactyly Syndrome |
|
Renal agenesis, Renal hypoplasia, Ectopic kidney |
OMIM:212780 |
Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... |
OMIM:619007 |
Coloboma, Ocular, Autosomal Recessive |
|
Optic disc coloboma, Retinal coloboma, Iris coloboma |
OMIM:216820 |
Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... |
ORPHA:49382 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... |
OMIM:618220 |
Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
Leber Congenital Amaurosis 1 |
|
Fundus atrophy, Sensorineural hearing impairment, Optic disc drusen, Pigmentary retinopathy, Hype... |
OMIM:204000 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... |
ORPHA:52368 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Multicystic kidney dysplasia, Renal insufficiency, Hydrocephalus, Optic ... |
ORPHA:1454 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Abnormality... |
OMIM:300476 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Codas Syndrome |
|
Hydroureter |
ORPHA:1458 |
Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:431329 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo... |
ORPHA:90793 |
Spina Bifida-Hypospadias Syndrome |
|
Hypospadias, Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Retinal thinning |
OMIM:618970 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:161950 |
Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:614180 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... |
OMIM:204100 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Optic atrophy, Hematuria, Chorioretinal coloboma, Iris coloboma |
ORPHA:1473 |
Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... |
OMIM:608133 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Joubert Syndrome 1 |
|
Optic disc pallor, Retinal dystrophy, Optic disc coloboma, Renal cyst, Occipital myelomeningocele... |
OMIM:213300 |
Joubert Syndrome 7 |
|
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Pigmentary retinopathy, Hy... |
ORPHA:3363 |
Retinitis Pigmentosa 78 |
|
Optic disc pallor, Cystoid macular edema |
OMIM:617433 |
Mental Retardation With Optic Atrophy, Deafness, And Seizures |
|
Optic atrophy |
OMIM:309555 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:600995 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Megacystis |
ORPHA:2241 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst |
OMIM:617056 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613801 |
Biemond Syndrome Type 2 |
|
Hypospadias, Hypogonadotropic hypogonadism, Hydrocephalus, Coloboma, Hypogonadism |
ORPHA:141333 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Optic atrophy, Cochlear degeneration, Hearing impairment |
ORPHA:95433 |
Joubert Syndrome 36 |
|
Molar tooth sign on MRI, Sensorineural hearing impairment |
OMIM:618763 |
Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:619217 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Thrombocytopenia-Absent Radius Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of the kidney, Sensorineural hearing impairment, H... |
ORPHA:3320 |
Coach Syndrome 1 |
|
Optic disc pallor, Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chron... |
OMIM:216360 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney |
ORPHA:500095 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Abnormal chorioretinal morphology, Macular dyst... |
ORPHA:225 |
Warsaw Breakage Syndrome |
|
Optic disc coloboma, Hypoplasia of the cochlea, Cupped ear, Hearing impairment |
OMIM:613398 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, Chronic tubulo... |
OMIM:614376 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Ketonuria, Renal hypoplasia |
OMIM:619053 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... |
ORPHA:97362 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron... |
OMIM:271520 |
Pelvis-Shoulder Dysplasia |
|
Optic disc coloboma, Spina bifida occulta, Iris coloboma |
OMIM:169550 |
Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:616629 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Cerebellar vermis hypoplasia, Facial palsy, Cryptorchidism, Pigmentary retinopathy, Abnormal pons... |
ORPHA:370968 |
Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy, Hearing impairment |
OMIM:619090 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:618265 |
Fanconi Anemia, Complementation Group O |
|
Neonatal death, Stage 5 chronic kidney disease, Renal cyst, Hydronephrosis |
OMIM:613390 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Horseshoe kidney, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney |
ORPHA:3109 |
Spastic Paraplegia 82, Autosomal Recessive |
|
Optic atrophy |
OMIM:618770 |
Joubert Syndrome With Oculorenal Defect |
|
Low-set, posteriorly rotated ears, Encephalocele, Renal insufficiency, Cerebellar vermis hypoplas... |
ORPHA:2318 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema |
OMIM:180104 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Ventriculomegaly, Cerebellar vermis hypoplasia, Posteriorly rotated ears, Agenesis of cerebellar ... |
ORPHA:163961 |
Braddock Syndrome |
|
Unilateral renal agenesis |
ORPHA:52047 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Absent vas deferens |
OMIM:277180 |
Septopreoptic Holoprosencephaly |
|
Abnormal midbrain morphology, Hypoplasia of the pons, Precocious puberty, Rhombencephalosynapsis,... |
ORPHA:280195 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy |
OMIM:551500 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
Hydrolethalus Syndrome 2 |
|
Molar tooth sign on MRI, Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
Diencephalic Syndrome |
|
Hydrocephalus, Long penis, Optic atrophy |
ORPHA:1672 |
Retinitis Pigmentosa 46 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels |
OMIM:612572 |
Otofaciocervical Syndrome 1 |
|
Conductive hearing impairment, Mixed hearing impairment, Cupped ear, Hypoplasia of the cochlea |
OMIM:166780 |
Kallmann Syndrome With Spastic Paraplegia |
|
Micropenis, Unilateral renal agenesis |
OMIM:308750 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormality of the kidney, Unilateral renal agenesis |
OMIM:118100 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Optic atrophy |
ORPHA:2572 |
Joubert Syndrome 35 |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal fibrosis, Rod-cone dystro... |
OMIM:618161 |
Glaucoma 1, Open Angle, F |
|
Increased cup-to-disc ratio |
OMIM:603383 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Rod-cone dystrophy, Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remye... |
OMIM:311070 |
Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
Adams-Oliver Syndrome 6 |
|
Renal hypoplasia |
OMIM:616589 |
Acro-Renal-Ocular Syndrome |
|
Renal malrotation, Optic disc hypoplasia, Aganglionic megacolon, Renal hypoplasia/aplasia, Optic ... |
ORPHA:959 |
Crouzon Syndrome |
|
Hydrocephalus, Optic atrophy, Conductive hearing impairment, Narrow internal auditory canal, Hear... |
ORPHA:207 |
Isolated Atp Synthase Deficiency |
|
3-Methylglutaconic aciduria, Rod-cone dystrophy, Optic atrophy, Renal hypoplasia |
ORPHA:254913 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Unilateral renal agenesis |
ORPHA:3306 |
Biemond Syndrome Ii |
|
Hydrocephalus, Iris coloboma |
OMIM:210350 |
Distal Duplication 6P |
|
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia |
ORPHA:1745 |
Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Polyuria, Stag... |
OMIM:615994 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Periglomerular fibrosis, Stage 5 chronic kidney disease, Tubular l... |
OMIM:619468 |
Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation, Abnormality of the outer ear |
ORPHA:2515 |
Autosomal Recessive Spastic Paraplegia Type 74 |
|
Peripheral axonal neuropathy, Optic atrophy |
ORPHA:468661 |
Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Retinal dystrophy, Stage 5 chroni... |
OMIM:608629 |
Retinitis Pigmentosa 80 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:617781 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy, Increased level of L-pyroglutamic acid in urine |
OMIM:266130 |
Hyperoxaluria, Primary, Type Ii |
|
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria |
OMIM:260000 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Hypospadias, Vesicoureteral reflux, Hydronephrosis, Renal duplication |
ORPHA:96169 |
Joubert Syndrome 9 |
|
Encephalocele, Retinal dystrophy, Stage 5 chronic kidney disease, Molar tooth sign on MRI, Ventri... |
OMIM:612285 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis |
OMIM:615398 |
Hogue-Janssen Syndrome 2 |
|
Unilateral renal agenesis |
OMIM:616362 |
Desmoid Tumor |
|
Abnormality of retinal pigmentation, Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:873 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... |
OMIM:618697 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Renal cyst |
OMIM:231060 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Pancreatic... |
OMIM:263200 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Renal cyst... |
OMIM:611134 |
Diabetes And Deafness, Maternally Inherited |
|
Abnormal vestibular function, Vertigo, Sensorineural hearing impairment, Pigmentary retinopathy, ... |
OMIM:520000 |
Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
Leber Hereditary Optic Neuropathy |
|
Retinal vascular tortuosity, Optic atrophy, Retinal telangiectasia |
ORPHA:104 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Hydronephrosis, Renal hypoplasia, Unilateral renal agenesis |
OMIM:618494 |
Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Vesicoureteral reflux, Unilateral renal agenesis |
OMIM:606408 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Renal dysplasia, Abnormal renal corticomedullary differentiation |
OMIM:616733 |
Glaucoma 3, Primary Congenital, E |
|
Increased cup-to-disc ratio |
OMIM:617272 |
15Q24 Microdeletion Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Cryptorchidism, Myelomeningoc... |
ORPHA:94065 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Retinal dysplasia, Coloboma, Occipital encephalocele, Hydrocephalus |
ORPHA:324416 |
Striatonigral Degeneration, Infantile |
|
Optic atrophy |
OMIM:271930 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Hydronephrosis, Vesicoureteral ... |
OMIM:614080 |
Noonan Syndrome 4 |
|
Ureteral duplication, Hydronephrosis |
OMIM:610733 |
Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Duplication of renal pelvis, Ureteral duplication |
ORPHA:457212 |
Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
Atypical Hemolytic Uremic Syndrome |
|
Hematuria, Acute kidney injury, Proteinuria |
ORPHA:2134 |
Isolated Polycystic Liver Disease |
|
Multiple renal cysts |
ORPHA:2924 |
Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
Polysyndactyly With Cardiac Malformation |
|
Stillbirth, Hepatic cysts, Renal cyst |
OMIM:263630 |
Merrf |
|
Optic atrophy |
ORPHA:551 |
Cach Syndrome |
|
Optic neuritis, Optic atrophy, Renal hypoplasia |
ORPHA:135 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cerebellar atrophy, Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Cryptorc... |
ORPHA:3085 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Retinitis Pigmentosa 69 |
|
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:615780 |
Developmental And Epileptic Encephalopathy 58 |
|
Optic atrophy |
OMIM:617830 |
Wolfram-Like Syndrome |
|
Peripheral axonal neuropathy, Optic atrophy, Abnormality of the upper urinary tract |
ORPHA:411590 |
Spastic Paraplegia 81, Autosomal Recessive |
|
Retinal vascular tortuosity, Optic atrophy |
OMIM:618768 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Optic atrophy |
OMIM:619323 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Unilateral renal agenesis |
ORPHA:1064 |
Say Syndrome |
|
Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing... |
OMIM:610706 |
Knobloch Syndrome 1 |
|
Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication |
OMIM:267750 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis |
OMIM:613735 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydroureter, Abnormality of the upper urinary tract, Optic disc coloboma, Hydronephrosis, Retinos... |
ORPHA:2995 |
X-Linked Spinocerebellar Ataxia Type 3 |
|
Optic atrophy |
ORPHA:85297 |
Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
Meckel Syndrome 12 |
|
Agenesis of cerebellar vermis, Ureteral hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, B... |
OMIM:616258 |
Fanconi Anemia, Complementation Group W |
|
Renal hypoplasia |
OMIM:617784 |
Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... |
OMIM:304020 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Abnormality of the kidney, Macular degeneration, Rod-con... |
OMIM:613464 |
Retinitis Pigmentosa 59 |
|
Renal insufficiency, Rod-cone dystrophy, Cystoid macular edema, Micropenis |
OMIM:613861 |
Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Optic atrophy, Renal hypoplasia, Tubulointer... |
OMIM:617595 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Optic atrophy, Pigmentary retinopathy, Bilateral sensorineural hearing impairment, Low-set ears, ... |
OMIM:264470 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... |
ORPHA:506353 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Macular degeneration, Rod-cone dystrophy, Optic atrophy, Retinal degeneration |
OMIM:204200 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Coloboma, Vaginal fistula, Horseshoe kidney, Simple ear |
OMIM:619318 |
Diamond-Blackfan Anemia 11 |
|
Unilateral renal agenesis |
OMIM:614900 |
Hand-Foot-Genital Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the urethra, Vesicoureteral reflu... |
ORPHA:2438 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia |
ORPHA:464288 |
Leber Congenital Amaurosis |
|
Encephalocele, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Hearing impai... |
ORPHA:65 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Micropenis, Chorioretinal atrophy |
OMIM:245800 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... |
OMIM:618195 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Peripheral axonal neuropathy, Optic atrophy |
ORPHA:320360 |
Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... |
ORPHA:2036 |
Xanthinuria, Type Ii |
|
Nephrolithiasis, Renal insufficiency, Increased urinary hypoxanthine level, Xanthinuria |
OMIM:603592 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Uric acid nephrolithiasi... |
ORPHA:411536 |
Optic Atrophy 5 |
|
Optic disc pallor, Optic atrophy |
OMIM:610708 |
Leber Congenital Amaurosis 8 |
|
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... |
OMIM:613835 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Hydronephrosis, Poly... |
OMIM:608836 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... |
ORPHA:84081 |
Joubert Syndrome With Renal Defect |
|
Low-set, posteriorly rotated ears, Encephalocele, Renal insufficiency, Cerebellar vermis hypoplas... |
ORPHA:220497 |
Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... |
ORPHA:215 |
Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... |
OMIM:602772 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Abnormality of the ureter |
ORPHA:1035 |
Leber Congenital Amaurosis 14 |
|
Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy |
OMIM:613341 |
Czeizel-Losonci Syndrome |
|
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydronephrosis |
ORPHA:2437 |
Vici Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Ureteral atresia, Renal tubular acidosis, Hyp... |
ORPHA:1493 |
Megabladder, Congenital |
|
Multiple glomerular cysts, Patent ductus arteriosus, Stage 5 chronic kidney disease, Fetal megacy... |
OMIM:618719 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen... |
ORPHA:363444 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy |
OMIM:300928 |
Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... |
OMIM:613496 |
Arnold-Chiari Malformation Type I |
|
Functional abnormality of the inner ear, Urinary incontinence, Myelopathy, Vertigo, Cranial nerve... |
ORPHA:268882 |
Micro Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Hypoplasia of penis, Cryp... |
ORPHA:2510 |
Amyloidosis, Finnish Type |
|
Nephrotic syndrome, Renal insufficiency |
OMIM:105120 |
Retinitis Pigmentosa 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312612 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Optic atrophy |
OMIM:613162 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Optic atrophy |
OMIM:620312 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Cryptorchidism, Meningocele, Protruding ear, Aplasia of the uterus |
ORPHA:2879 |
Macdermot-Winter Syndrome |
|
Hydronephrosis |
OMIM:247990 |
Silver-Russell Syndrome 1 |
|
Urethral valve, Hypospadias, Abnormality of the ureter, Congenital posterior urethral valve, Neph... |
OMIM:180860 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Optic disc coloboma, Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Umbilical... |
OMIM:618454 |
Diphallia |
|
Ureteral duplication, Renal malrotation, Hypospadias, Distal urethral duplication, Epispadias, Pe... |
ORPHA:227 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Stage 5... |
OMIM:610688 |
Joubert Syndrome 30 |
|
Cerebellar atrophy, Ventriculomegaly, Retinal dystrophy, Molar tooth sign on MRI, Superior cerebe... |
OMIM:617622 |
Nephrotic Syndrome, Type 22 |
|
Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Ne... |
OMIM:619155 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hyperechogenic kidneys, Proximal tubulopathy, Optic atrophy, Unilateral renal agenesis |
OMIM:614576 |
Matthew-Wood Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia, Horseshoe kidney |
ORPHA:2470 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Vaginal mucosal ulceration |
OMIM:618287 |
Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Renal insufficiency, Retinal detachment, Proteinuria, Hematuria |
ORPHA:375 |
Malaria |
|
Acute kidney injury, Retinopathy |
ORPHA:673 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Occipital encephalocele, Retinal detachment, Fusion of the cerebellar h... |
ORPHA:370959 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Vesicoureteral reflux |
OMIM:618828 |
Intellectual Developmental Disorder, Autosomal Recessive 67 |
|
Coloboma, Sensorineural hearing impairment, Posteriorly rotated ears |
OMIM:618295 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609260 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Ureteral triplication, Hydronephrosis |
OMIM:104350 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Aganglionic megacolon, Optic disc hypoplasia, Facial palsy, Renal agenesis, Re... |
OMIM:607323 |
Nephrolithiasis, Calcium Oxalate, 1 |
|
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... |
OMIM:167030 |
Aapoaiv Amyloidosis |
|
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn... |
ORPHA:439232 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Coloboma |
OMIM:251505 |
Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Abnormal renal morphology, Renal hypoplasia, Horseshoe kidney, Vesicouret... |
OMIM:609053 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Renal dysplasia, Renal insufficiency, Hypoplasia of penis, Renal hypoplasia |
ORPHA:85321 |
Spinocerebellar Ataxia 7 |
|
Macular degeneration, Optic atrophy, Pigmentary retinopathy |
OMIM:164500 |
Leukoencephalopathy With Vanishing White Matter 4 |
|
Optic atrophy |
OMIM:620314 |
Townes-Brocks Syndrome 2 |
|
Vesicoureteral reflux, Crossed fused renal ectopia, Hypospadias |
OMIM:617466 |
Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation, Hearing impairment |
ORPHA:480 |
Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... |
ORPHA:2481 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Macular degeneration, Optic atrophy, Retinal degeneration |
OMIM:256730 |
Hereditary Orotic Aciduria |
|
Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria |
ORPHA:30 |
Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration |
OMIM:602271 |
Mitochondrial Complex I Deficiency, Nuclear Type 34 |
|
Optic disc pallor, Optic atrophy |
OMIM:618776 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Vesicoureteral reflux, Distal urethral duplication, Renal hypoplasia/aplasia |
ORPHA:2549 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cell carcinoma, Renal cyst |
OMIM:135150 |
Donnai-Barrow Syndrome |
|
Retinal detachment, Retinal dystrophy, Posteriorly rotated ears, Proteinuria, Sensorineural heari... |
ORPHA:2143 |
Congenital Disorder Of Glycosylation, Type Iaa |
|
Optic disc pallor, Attenuation of retinal blood vessels |
OMIM:617082 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Multiple renal cysts, Renal cyst |
OMIM:614883 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Renal malrotation, Cerebellar vermis hypoplasia, Death in infancy, Spina bi... |
OMIM:274000 |
Carpenter Syndrome 1 |
|
Spina bifida occulta, Hydroureter, Optic atrophy, Hydronephrosis |
OMIM:201000 |
Nescav Syndrome |
|
Peripheral axonal neuropathy, Optic atrophy |
OMIM:614255 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Optic atrophy |
ORPHA:2787 |
Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Septo-optic dysplasia, Cryptorchidism, Hydrocephalus, Optic atrophy... |
ORPHA:3301 |
Mitochondrial Complex I Deficiency, Nuclear Type 27 |
|
Neurogenic bladder, Optic atrophy |
OMIM:618248 |
Pontocerebellar Hypoplasia, Type 1E |
|
Optic atrophy |
OMIM:619303 |
Hypomandibular Faciocranial Dysostosis |
|
Optic disc coloboma |
OMIM:241310 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Peripheral axonal neuropathy, Retinal atrophy, Retinal dystrophy, Renal insuff... |
ORPHA:90324 |
Cherubism |
|
Optic atrophy |
ORPHA:184 |
Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
Microphthalmia, Isolated 4 |
|
Coloboma, Absent testis |
OMIM:613094 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Micropenis, Unilateral renal agenesis |
OMIM:308700 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Renal hypoplasia |
OMIM:616817 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Hydronephrosis |
OMIM:618460 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Aganglionic megacolon, Hydronephrosis |
OMIM:235760 |
Diprosopus |
|
External ear malformation, Abnormality of retinal pigmentation |
ORPHA:1681 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Retinal co... |
OMIM:616546 |
Orofaciodigital Syndrome V |
|
Optic disc coloboma, Aganglionic megacolon, Horseshoe kidney |
OMIM:174300 |
Retinal Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling |
OMIM:610478 |
Schizophrenia 1 |
|
Partially duplicated kidney, Renal agenesis, Ectopic kidney |
OMIM:181510 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Vaginal fistula, Sensorineural hearing impairment |
ORPHA:2597 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Renal hypoplasia |
ORPHA:75389 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Renal cyst, Horseshoe kidney, Molar tooth... |
OMIM:614815 |
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome |
|
Optic atrophy |
ORPHA:1171 |
Gorham-Stout Disease |
|
Abnormality of the internal auditory canal, Hearing impairment |
ORPHA:73 |
Fraser Syndrome 2 |
|
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl... |
OMIM:617666 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Sensorineural hearing impairment, Opt... |
OMIM:268315 |
Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... |
OMIM:613810 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, Proteinuria, Ectopic kidney, Optic disc coloboma, Optic atrophy, Vesicoureteral refl... |
OMIM:122470 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal insufficiency, Proteinuria, Renal hypoplasia |
ORPHA:1307 |
Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Meningoence... |
OMIM:236670 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida, Precocious puberty, Cryptorchidism, Renal transitional cell carcinoma, Unilateral r... |
ORPHA:2874 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Diaphanospondylodysostosis |
|
Multiple renal cysts |
ORPHA:66637 |
Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
Joubert Syndrome With Ocular Defect |
|
Low-set, posteriorly rotated ears, Encephalocele, Cerebellar vermis hypoplasia, Retinal dystrophy... |
ORPHA:220493 |
Emanuel Syndrome |
|
Recurrent urinary tract infections, Unilateral renal agenesis, Patent ductus arteriosus, Renal hy... |
OMIM:609029 |
Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Optic atrophy, Premature graying of hair... |
ORPHA:33445 |
Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... |
ORPHA:49 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Hand-Foot-Genital Syndrome |
|
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure... |
OMIM:140000 |
Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy, Low-set ears |
OMIM:616606 |
Retinitis Pigmentosa 74 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Abnormal renal morphology |
OMIM:616562 |
Stromme Syndrome |
|
Optic nerve hypoplasia, Hydrocephalus, Bilateral renal hypoplasia, Hydronephrosis, Retinal vascul... |
OMIM:243605 |
Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia |
OMIM:236700 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Renal agenesis, Unilateral renal agenesis |
OMIM:608980 |
Rhabdomyolysis, Susceptibility To, 1 |
|
Renal insufficiency |
OMIM:620235 |
Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2522 |
Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency |
OMIM:261670 |
Lethal Infantile Mitochondrial Myopathy |
|
Renal insufficiency |
ORPHA:254857 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Macular coloboma, Renal magnesium wasting, Rod-cone dystrophy... |
OMIM:248190 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation, Facial palsy |
ORPHA:2743 |
Joubert Syndrome 37 |
|
Cerebellar vermis hypoplasia, Posteriorly rotated ears, Cryptorchidism, Hydronephrosis, Low-set e... |
OMIM:619185 |
Nager Syndrome |
|
Unilateral renal agenesis |
ORPHA:245 |
Trisomy 13 |
|
Abnormal retinal vascular morphology, Cryptorchidism, Sensorineural hearing impairment, Abnormali... |
ORPHA:3378 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Optic atrophy, Facial palsy |
ORPHA:178377 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Recurrent u... |
OMIM:609033 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Vesicoureteral reflux, Renal atrophy, Hypospadias |
OMIM:618659 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis, ... |
ORPHA:1390 |
Isolated Succinate-Coq Reductase Deficiency |
|
Vesicoureteral reflux |
ORPHA:3208 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Nephritis |
ORPHA:3327 |
Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Decreased response to growth hormone stimulation test, Hydrocephalus, Coloboma, Low-... |
OMIM:220210 |
Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation, Renal cell carcinoma |
ORPHA:122 |
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
|
Peripheral axonal neuropathy, Optic atrophy |
OMIM:620221 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... |
ORPHA:79403 |
Rhyns Syndrome |
|
Renal insufficiency, Chronic kidney disease, Nephronophthisis |
OMIM:602152 |
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Peripheral axonal neuropathy, Optic atrophy |
OMIM:617207 |
17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia |
ORPHA:261265 |
Dent Disease 2 |
|
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... |
OMIM:300555 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Subretinal deposits, Abnormal optic disc m... |
ORPHA:397715 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation, Hydrocephalus |
ORPHA:397951 |
Lesch-Nyhan Syndrome |
|
Hematuria, Renal insufficiency |
ORPHA:510 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Retinopathy, Optic disc pallor, Optic atrophy, Macular atrophy |
OMIM:616171 |
Cavitary Optic Disc Anomalies |
|
Peripapillary atrophy |
OMIM:611543 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Optic atrophy |
OMIM:619052 |
Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... |
OMIM:616469 |
Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... |
OMIM:145001 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Vesicoureteral reflux, Crossed fused renal ectopia, Pelvi... |
OMIM:300707 |
Curry-Jones Syndrome |
|
Optic disc coloboma, Iris coloboma |
ORPHA:1553 |
Lumbar Syndrome |
|
Renal agenesis, Hypospadias, Vesicoureteral reflux, Micropenis, Bladder exstrophy, Renal duplication |
ORPHA:83628 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Proteinuria |
OMIM:245900 |
Shashi-Pena Syndrome |
|
Patent ductus arteriosus, Unilateral renal agenesis |
OMIM:617190 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Retinal detachment, Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, Colobom... |
OMIM:613153 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Vesicoureteral reflux, Micropenis, Unilateral renal agenesis |
OMIM:619951 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Nephronophthisis |
OMIM:615630 |
Pallister-Hall Syndrome |
|
Small scrotum, Ectopic kidney, Gonadotropin deficiency, Holoprosencephaly, Micropenis, Aplasia/hy... |
ORPHA:672 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Retinal detachment, Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Hypoplasia of ... |
OMIM:615181 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Renal hypoplasia, Absence of renal corticomedullary differentiation |
OMIM:619758 |
Myoglobinuria, Autosomal Dominant |
|
Myoglobinuria, Acute kidney injury |
OMIM:160010 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Holoprosencephaly, Iris coloboma, Chorioretinal coloboma |
OMIM:611638 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... |
ORPHA:730 |
Cutis Laxa, Autosomal Dominant 3 |
|
Unilateral renal agenesis |
OMIM:616603 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:617660 |
Exstrophy-Epispadias Complex |
|
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias... |
ORPHA:322 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Renal agenesis, Unilateral renal agenesis |
OMIM:619227 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Polycystic kidney dysplasia |
OMIM:614859 |
Retinitis Pigmentosa 2 |
|
Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c... |
OMIM:312600 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
Distal Deletion 10Q |
|
Congenital sensorineural hearing impairment, Spina bifida occulta, Cochlear malformation, Protrud... |
ORPHA:96148 |
L-2-Hydroxyglutaric Aciduria |
|
L-2-hydroxyglutaric aciduria, Optic atrophy |
OMIM:236792 |
Hereditary Renal Hypouricemia |
|
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... |
ORPHA:94088 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst |
OMIM:614091 |
Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
Frontonasal Dysplasia 1 |
|
Anterior basal encephalocele, Coloboma, Low-set ears, Conductive hearing impairment, Agenesis of ... |
OMIM:136760 |
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Optic disc pallor |
OMIM:616732 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:173900 |
Familial Reactive Perforating Collagenosis |
|
Chronic kidney disease |
ORPHA:79147 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis |
ORPHA:261344 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect, Macrotia, Abnormality of the ear |
OMIM:600776 |
Craniodiaphyseal Dysplasia |
|
Optic atrophy |
ORPHA:1513 |
12Q14 Microdeletion Syndrome |
|
Renal hypoplasia, Horseshoe kidney, Ectopic kidney |
ORPHA:94063 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Dilatation of renal calices, Branchial anomaly, Pelvic kidney |
ORPHA:466950 |
Seizures, Cortical Blindness, And Microcephaly Syndrome |
|
Optic atrophy |
OMIM:616632 |
47,Xyy Syndrome |
|
Macroorchidism, Hypospadias, Cryptorchidism, Hydrocephalus, Increased circulating gonadotropin le... |
ORPHA:8 |
Hyperuricemia, Hprt-Related |
|
Renal insufficiency, Nephrolithiasis, Hyperuricosuria |
OMIM:300323 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Peripheral axonal neuropathy, Optic atrophy |
OMIM:619425 |
Peroxisome Biogenesis Disorder 4B |
|
Retinal dystrophy, Decreased nerve conduction velocity, Optic atrophy, Ureterocele, Rod-cone dyst... |
OMIM:614863 |
Chromosome 15Q25 Deletion Syndrome |
|
Dilatation of renal calices |
OMIM:614294 |
Trisomy 18 |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Spina bifida, Abnormality... |
ORPHA:3380 |
Webb-Dattani Syndrome |
|
Vesicoureteral reflux, Neurogenic bladder, Hyposthenuria, Hydronephrosis |
OMIM:615926 |
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Optic atrophy, Calcium oxalate nephrolithiasis |
OMIM:248000 |
Liddle Syndrome |
|
Nephropathy, Renal insufficiency |
ORPHA:526 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Abnormality of retinal pigmentation, Proteinuria, Abnormal r... |
ORPHA:2715 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Vesicoureteral reflux |
ORPHA:3078 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Renal hypoplasia |
OMIM:618914 |
Cystinuria |
|
Hematuria, Renal insufficiency, Nephrolithiasis |
ORPHA:214 |
Early-Onset X-Linked Optic Atrophy |
|
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy |
ORPHA:98890 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 |
|
Optic disc pallor, Optic atrophy |
OMIM:617086 |
Combined Saposin Deficiency |
|
Optic atrophy |
OMIM:611721 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy, Onion bulb formation |
OMIM:615035 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Abnormal peripheral myelination, Increase... |
ORPHA:168563 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Methylmalonic aciduria, Unilateral renal agenesis |
ORPHA:79284 |
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome |
|
Retrobulbar optic neuritis, Optic atrophy |
ORPHA:3151 |
1Q44 Microdeletion Syndrome |
|
Vesicoureteral reflux, Horseshoe kidney |
ORPHA:238769 |
Cystic Fibrosis |
|
Absent vas deferens, Nephrolithiasis, Hearing impairment |
ORPHA:586 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... |
ORPHA:90794 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1873 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
Lethal Congenital Contracture Syndrome 2 |
|
Hydronephrosis, Degenerative vitreoretinopathy |
OMIM:607598 |
Limb-Mammary Syndrome |
|
Absent nipple, Protruding ear, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nipples, ... |
ORPHA:69085 |
Lcat Deficiency |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney injury, Decreased ... |
ORPHA:650 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury |
ORPHA:33111 |
Narp Syndrome |
|
Optic disc pallor, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone d... |
ORPHA:644 |
Microphthalmia, Syndromic 6 |
|
Small scrotum, Posteriorly rotated ears, Female hypogonadism, Uplifted earlobe, Retinal dystrophy... |
OMIM:607932 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado... |
OMIM:194072 |
Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:613983 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Cerebellar atrophy, Hypergonadotropic hypogonadism, Abnormality of the ear, Polycystic ovaries, P... |
OMIM:268020 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Molar tooth sign on MRI, Agenesis of corpus callosum |
ORPHA:166024 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Nephroblastoma, Renal hypoplasia, Spinal dysraphism |
OMIM:612918 |
Eem Syndrome |
|
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1897 |
Microcephaly-Capillary Malformation Syndrome |
|
Vesicoureteral reflux |
OMIM:614261 |
Tatton-Brown-Rahman Syndrome |
|
Vesicoureteral reflux |
OMIM:615879 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
Developmental And Epileptic Encephalopathy 16 |
|
Optic atrophy |
OMIM:615338 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Micropenis, Renal hypoplasia, Unilateral renal agenesis, Ectopic kidney |
OMIM:616541 |
Congenital Hydrocephalus |
|
Hydrocephalus, Optic atrophy, Macular hypoplasia, Iris coloboma |
ORPHA:2185 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Renal cyst, Meningocele, Chorioretinal coloboma |
ORPHA:2031 |
Proboscis Lateralis |
|
Optic nerve hypoplasia, Unilateral renal agenesis, Optic disc coloboma, Ureteral agenesis, Duplic... |
ORPHA:141099 |
Aa Amyloidosis |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... |
ORPHA:85445 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus, Hydronephrosis |
ORPHA:251046 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus, Optic atrophy |
OMIM:619470 |
Emanuel Syndrome |
|
Patent ductus arteriosus, Micropenis, Renal hypoplasia, Unilateral renal agenesis |
ORPHA:96170 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Retinal dystrophy, Optic nerve hypoplasia, Cryptorchidism, Coloboma,... |
OMIM:610125 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... |
OMIM:609057 |
Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Bifid ureter, Hydronephrosis, Horseshoe kidney |
OMIM:305600 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Optic disc coloboma, Iris coloboma |
ORPHA:52055 |
46,Xy Sex Reversal 4 |
|
Renal dysplasia, Hypergonadotropic hypogonadism, Sensorineural hearing impairment, Agonadism, Sex... |
OMIM:154230 |
Distal Deletion 13Q |
|
Encephalocele, Renal hypoplasia/aplasia, Optic atrophy, Anencephaly, Holoprosencephaly, Iris colo... |
ORPHA:1590 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Hypospadias, Horseshoe kidney |
OMIM:619103 |
Odontochondrodysplasia 1 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Abnormality of the ureter |
ORPHA:3409 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2668 |
Coffin-Siris Syndrome 1 |
|
Dandy-Walker malformation, Hydroureter, Abnormal pinna morphology, Posteriorly rotated ears, Hypo... |
OMIM:135900 |
Srd5A3-Cdg |
|
Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Optic atrophy, Colo... |
ORPHA:324737 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Renal insufficiency, Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Acute kidney i... |
ORPHA:79233 |
Chromosome 5P13 Duplication Syndrome |
|
Vesicoureteral reflux |
OMIM:613174 |
Cednik Syndrome |
|
Nephrotic syndrome, Optic atrophy, Abnormality of peripheral nerve conduction, Proteinuria |
ORPHA:66631 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Pr... |
ORPHA:897 |
Ramon Syndrome |
|
Conductive hearing impairment, Abnormality of retinal pigmentation, Sensorineural hearing impairment |
ORPHA:3019 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy, Stage 5 chronic kidney disease, Proteinuria |
OMIM:219900 |
Heimler Syndrome 1 |
|
Macular dystrophy, Retinal pigment epithelial mottling, Sensorineural hearing impairment |
OMIM:234580 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Ventriculomegaly With Cystic Kidney Disease |
|
Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid... |
OMIM:219730 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Hydrocephalus, Optic atrophy |
ORPHA:352682 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... |
ORPHA:90796 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
Spastic Paraplegia 85, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy, Urinary incontinence |
OMIM:619686 |
Glycogen Storage Disease Xi |
|
Myoglobinuria, Renal insufficiency |
OMIM:612933 |
Rere-Related Neurodevelopmental Syndrome |
|
Vesicoureteral reflux, Hypospadias |
ORPHA:494344 |
Trichorhinophalangeal Syndrome Type 2 |
|
Vesicoureteral reflux, Recurrent urinary tract infections |
ORPHA:502 |
Slc35A2-Cdg |
|
Cerebellar atrophy, Abnormal midbrain morphology, Precocious puberty, Sensorineural hearing impai... |
ORPHA:356961 |
Wildervanck Syndrome |
|
Pseudopapilledema |
OMIM:314600 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Rod-cone dystrophy, Optic atrophy, Renal cyst |
OMIM:601539 |
Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Cerebellar vermis hypoplasia, Facial palsy, Cryptorchidism, Pigmentary retinopathy, Cerebellar hy... |
OMIM:613156 |
Sjögren-Larsson Syndrome |
|
Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta... |
ORPHA:816 |
Autosomal Recessive Spastic Paraplegia Type 15 |
|
Peripheral axonal neuropathy, Functional abnormality of the bladder, Pigmentary retinopathy, Reti... |
ORPHA:100996 |
Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Congenital sensorineural h... |
ORPHA:52427 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
|
Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morphology |
OMIM:614227 |
Noonan Syndrome |
|
Thickened helices, Aplasia of the semicircular canal, Low-set, posteriorly rotated ears, Sensorin... |
ORPHA:648 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615233 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Abnormal medullary pyramid morphology |
ORPHA:79243 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Vesicoureteral reflux |
OMIM:618797 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation, Abnormal helix morphology |
ORPHA:1259 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydronep... |
OMIM:617913 |
Ellis Van Creveld Syndrome |
|
Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Epispadias, Abnorm... |
ORPHA:289 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Cryptorchidism, Abnormal renal morphology, Protruding ear, Coloboma, Low-set ears, Umbilical hern... |
ORPHA:329224 |
Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Retinal dystrophy, Exercise-induced myoglobinuria |
OMIM:300653 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Hearing impairment, Increased circulating gonadotropin level, Gonadal dysgenesis, A... |
ORPHA:243 |
Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degener... |
OMIM:615986 |
Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... |
OMIM:617304 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena... |
OMIM:146510 |
Wolf-Hirschhorn Syndrome |
|
Abnormal pinna morphology, Hypospadias, Precocious puberty, Cryptorchidism, Sensorineural hearing... |
OMIM:194190 |
Sarcosinemia |
|
Hypersarcosinuria, Optic atrophy |
ORPHA:3129 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Optic nerve dysplasia |
OMIM:246000 |
Leber Congenital Amaurosis 16 |
|
Optic disc pallor |
OMIM:614186 |
Amaurosis-Hypertrichosis Syndrome |
|
Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy |
ORPHA:1021 |
Image Syndrome |
|
Hypospadias, Hydronephrosis |
ORPHA:85173 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Retinal detachment, Optic disc pallor, Hypospadias, Unilateral renal agenesis, Renal cyst, Microp... |
ORPHA:464311 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Dilatation of renal calices, Pelvic kidney |
ORPHA:466943 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Hepatosplenomegaly |
OMIM:273680 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Frontal encephalocele, Optic atrophy, Hydrocephalus |
ORPHA:1528 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Optic disc pallor, Optic atrophy |
OMIM:612989 |
Schindler Disease, Type I |
|
Increased urinary O-linked sialopeptides, Optic atrophy |
OMIM:609241 |
Branchiootic Syndrome |
|
Branchial fistula, Facial palsy, Sensorineural hearing impairment, Abnormality of the inner ear, ... |
ORPHA:52429 |
Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... |
OMIM:145350 |
2Q24 Microdeletion Syndrome |
|
Low-set, posteriorly rotated ears, Coloboma |
ORPHA:1617 |
Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... |
OMIM:618173 |
Hepatic Veno-Occlusive Disease |
|
Renal insufficiency |
ORPHA:890 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
Thrombotic Thrombocytopenic Purpura |
|
Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria |
ORPHA:54057 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Neonatal death, Patent ductus arteriosus, Unilateral renal agenesis |
OMIM:620024 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Patent ductus arteriosus, Renal hypoplasia, Horseshoe kidney, Neonatal death, ... |
OMIM:601186 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Hydrocephalus, Bicornuate uterus |
OMIM:258320 |
Waardenburg Syndrome |
|
Hypopigmentation of hair, Aganglionic megacolon, Myelomeningocele, Hypopigmented skin patches, Ab... |
ORPHA:3440 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Abnormality of the ureter, Renal hypoplasia/aplasia |
ORPHA:1770 |
Peters-Plus Syndrome |
|
Ureteral duplication, Hypoplasia of the vagina, Bilobate gallbladder, Protruding ear, Clitoral hy... |
OMIM:261540 |
Visceral Myopathy 1 |
|
Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis |
OMIM:155310 |
Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic... |
OMIM:258040 |
Congenital Toxoplasmosis |
|
Abnormality of retinal pigmentation, Hydrocephalus, Hearing impairment |
ORPHA:858 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Chronic kidney disease, Glomerulonephritis |
ORPHA:2172 |
Wiedemann-Steiner Syndrome |
|
Dilatation of renal calices |
ORPHA:319182 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Retinitis, Epispadias, Optic disc coloboma, Unilateral renal hypoplasia,... |
OMIM:615948 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl... |
ORPHA:158684 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Optic disc pallor |
OMIM:619446 |
Chand Syndrome |
|
Hydroureter |
ORPHA:1401 |
Marden-Walker Syndrome |
|
Micropenis, Hypospadias, Renal hypoplasia |
OMIM:248700 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... |
OMIM:612965 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Optic disc coloboma, Iris coloboma |
OMIM:300472 |
Bardet-Biedl Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchid... |
ORPHA:110 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Renal amyloidosis |
OMIM:134610 |
Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Optic atrophy, Hypospadias |
OMIM:618688 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Optic atrophy, Ethylmalonic aciduria, Increased level of methylsuccinic acid in urine |
ORPHA:26792 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Glue ear, Patchy atrophy of the retinal pigment epithelium |
ORPHA:1433 |
3-Methylglutaconic Aciduria Type 9 |
|
3-Methylglutaconic aciduria, Optic atrophy, Urinary incontinence |
ORPHA:505216 |
Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
Diffuse Neonatal Hemangiomatosis |
|
Patent ductus arteriosus, Renal insufficiency, Renal hypoplasia/aplasia |
ORPHA:2123 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Optic atrophy, Sensory axonal neuropathy |
ORPHA:329314 |
Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... |
OMIM:605549 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
Takenouchi-Kosaki Syndrome |
|
Unilateral renal agenesis, Optic atrophy, Hydronephrosis, Hypospadias |
OMIM:616737 |
Optic Atrophy 1 |
|
Optic atrophy |
OMIM:165500 |
Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Ovarian cyst, Patent ductus arteriosus, Unilateral renal agenesis |
OMIM:618188 |
Marcus-Gunn Syndrome |
|
Abnormal ear morphology, Abnormal fifth cranial nerve morphology, Morning glory anomaly, Nephroli... |
ORPHA:91412 |
Canavan Disease |
|
Abnormality of retinal pigmentation, Optic atrophy, Hearing impairment |
ORPHA:141 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Renal agenesis, Hydrocephalus, Renal hypoplasia, Micropenis, Holoprosencephaly, Cy... |
OMIM:264480 |
Fanconi Anemia, Complementation Group F |
|
Patent ductus arteriosus, Renal hypoplasia, Microphallus, Vesicoureteral reflux, Pelvic kidney |
OMIM:603467 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Aminoaciduria, Lacticaciduria, Death in infancy |
OMIM:619386 |
Baller-Gerold Syndrome |
|
Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney |
ORPHA:1225 |
Acquired Ichthyosis |
|
Renal insufficiency |
ORPHA:454 |
Nivelon-Nivelon-Mabille Syndrome |
|
Optic disc coloboma |
OMIM:600092 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Retinal dystrophy, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Renal hypoplasia, Genera... |
OMIM:619321 |
Arima Syndrome |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Proteinuria, Polyuria, Retinal dystrophy,... |
OMIM:243910 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal penis morphology, Encephalocele, Bifid scrotum, Hypospadias, Posteriorly rotated ears, E... |
ORPHA:2211 |
Joubert Syndrome 40 |
|
Molar tooth sign on MRI, Optic nerve hypoplasia |
OMIM:619582 |
Rudiger Syndrome |
|
Death in infancy, Ureterovesical stenosis, Ovarian cyst, Bicornuate uterus, Micropenis |
OMIM:268650 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Papilledema, Facial diplegia, Optic atrophy |
OMIM:122860 |
Renal, Genital, And Middle Ear Anomalies |
|
Renal hypoplasia/aplasia, Vaginal atresia, Hearing impairment, Abnormality of the middle ear ossi... |
OMIM:267400 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Hematuria, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Diamond-Blackfan Anemia 7 |
|
Vesicoureteral reflux, Horseshoe kidney |
OMIM:612562 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me... |
OMIM:604292 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
Oculopharyngodistal Myopathy 3 |
|
Conductive hearing impairment, Pigmentary retinopathy, Sensorineural hearing impairment |
OMIM:619473 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hypospadias, Vesicoureteral reflux, Micropenis, Hydronephrosis |
OMIM:301056 |
Sclerosteosis |
|
Optic atrophy, Facial palsy |
ORPHA:3152 |
8P23.1 Duplication Syndrome |
|
Hydronephrosis |
ORPHA:251076 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Hyperpigmentation of the skin, Ambiguous genitali... |
OMIM:202010 |
Melnick-Needles Syndrome |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:2484 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... |
ORPHA:228302 |
Ravine Syndrome |
|
Abnormal brainstem morphology, Abnormal auditory evoked potentials, Atrophy/Degeneration affectin... |
ORPHA:99852 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Kleefstra Syndrome Due To A Point Mutation |
|
Vesicoureteral reflux, Abnormality of the kidney |
ORPHA:261652 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Brushfield spots, Cryptorchidism, Optic nerve dysplasia, Pigmentary retinopathy, Aminoaciduria, H... |
OMIM:214110 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Optic atro... |
ORPHA:1435 |
Frasier Syndrome |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:136680 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Hypogonadotropic hypogonadism, Supernumerary nipple, Optic a... |
ORPHA:1173 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... |
ORPHA:656 |
Sifrim-Hitz-Weiss Syndrome |
|
Vesicoureteral reflux, Renal insufficiency, Micropenis |
OMIM:617159 |
Optic Atrophy 8 |
|
Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials |
OMIM:616648 |
Distal 22Q11.2 Microduplication Syndrome |
|
Branchial fistula, Hydrocephalus, Optic disc coloboma, Unilateral renal agenesis |
ORPHA:261337 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue... |
OMIM:194080 |
Frontometaphyseal Dysplasia 1 |
|
Hydroureter, Hydronephrosis |
OMIM:305620 |
Neonatal Adrenoleukodystrophy |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Sensorineural hearing imp... |
ORPHA:44 |
Meckel Syndrome, Type 5 |
|
Renal cyst |
OMIM:611561 |
Aredyld Syndrome |
|
Abnormality of the ureter |
ORPHA:1133 |
Congenital Tufting Enteropathy |
|
Optic disc coloboma |
ORPHA:92050 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
Spastic Ataxia 4, Autosomal Recessive |
|
Optic atrophy |
OMIM:613672 |
Müllerian Aplasia And Hyperandrogenism |
|
Renal agenesis, Protruding ear, Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality... |
ORPHA:247768 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:2364 |
Rhombencephalosynapsis |
|
Low-set, posteriorly rotated ears, Fusion of the cerebellar hemispheres, Septo-optic dysplasia, A... |
ORPHA:59315 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Abnormal medulla oblongata morphology, Abnormal m... |
ORPHA:206448 |
Cryoglobulinemia, Familial Mixed |
|
Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology |
OMIM:123550 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Sen... |
OMIM:614129 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Ovotestis, Hydrocephalus, Hypoplasia of the uterus, Pigmentary retinopathy, Chordee,... |
OMIM:309801 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Multiple... |
OMIM:613095 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... |
OMIM:613388 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Hallermann-Streiff Syndrome |
|
Optic disc coloboma, Spina bifida, Iris coloboma, Chorioretinal coloboma |
OMIM:234100 |
Hypomandibular Faciocranial Dysostosis |
|
Optic disc coloboma |
ORPHA:1790 |
Joubert Syndrome 39 |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Retinal dystrophy, Polycystic kidney dyspl... |
OMIM:619562 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Hypospadias, Optic nerve hypoplasia, Facial palsy, Renal agenesis, Spina bifida, Renal hypoplasia... |
ORPHA:508498 |
Salt And Pepper Developmental Regression Syndrome |
|
Optic atrophy |
OMIM:609056 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila... |
ORPHA:49041 |
7Q11.23 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Hydroc... |
ORPHA:96121 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... |
OMIM:231680 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Low-set, posteriorly rotated ears, Hypospadias, Cryptorchidism, Meningocele, Abnormality of the u... |
ORPHA:2311 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Renal cyst |
OMIM:614862 |
Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Optic atrophy, Hearing impairment, Melanocytic nevus |
ORPHA:2801 |
Mucolipidosis Iv |
|
Optic atrophy, Retinal degeneration |
OMIM:252650 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Aminoaciduria, Optic atrophy, Retinal degeneration |
OMIM:249270 |
Neuromuscular Oculoauditory Syndrome |
|
Decreased nerve conduction velocity, Chorioretinal lacunae, Retinal pigment epithelial mottling, ... |
OMIM:618733 |
Pelvis-Shoulder Dysplasia |
|
Spina bifida, Hydrocephalus, Retinal coloboma, Hydranencephaly, Iris coloboma, Hydronephrosis |
ORPHA:2839 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614455 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Vesicoureteral reflux |
OMIM:614749 |
Mitochondrial Complex I Deficiency, Nuclear Type 7 |
|
Optic atrophy |
OMIM:618229 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Coloboma, Holoprosencephaly, Low-set ears, Anterior encephalocele |
OMIM:601357 |
Leber Optic Atrophy And Dystonia |
|
Optic atrophy, Leber optic atrophy |
OMIM:500001 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease |
OMIM:166300 |
Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... |
ORPHA:79432 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Renal insufficiency |
ORPHA:28 |
Null Syndrome |
|
Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Abnormality of peri... |
ORPHA:280234 |
Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
Joubert Syndrome 5 |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar verm... |
OMIM:610188 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Hydroureter |
OMIM:610759 |
Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Hydrocephalus, Optic atrophy, Mucopolysacchariduria, Abnorma... |
ORPHA:585 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Acute ... |
OMIM:612925 |
Joubert Syndrome 31 |
|
Molar tooth sign on MRI, Ventriculomegaly |
OMIM:617761 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Renal cyst |
OMIM:617100 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Abnormal pinna morphology, Hypospadias, Cryptorchidism, Anteriorly displaced genit... |
OMIM:276820 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Hypospadias, Optic nerve hypoplasia, Hypogonadotropic hypogonadism, Anterior... |
OMIM:206900 |
Charge Syndrome |
|
Low-set, posteriorly rotated ears, Facial palsy, External ear malformation, Aqueductal stenosis, ... |
ORPHA:138 |
Spastic Paraplegia 2, X-Linked |
|
Optic atrophy |
OMIM:312920 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Hearing impairment, Sensorineural hearing impairment, Aplasia of the inner ear, Microtia, Abnorma... |
ORPHA:90024 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Optic disc hypoplasia, Hypoplasia of the ... |
OMIM:619306 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Optic atrophy |
OMIM:613151 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Retinal atrophy, Retinal dystrophy, Abnormal brainstem morphology, Cere... |
ORPHA:370022 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... |
OMIM:600740 |
Infantile Cerebellar-Retinal Degeneration |
|
Optic atrophy, Retinal dystrophy |
OMIM:614559 |
Cln3 Disease |
|
Pigmentary retinopathy, Urinary bladder sphincter dysfunction, Optic atrophy, Bull's eye maculopathy |
ORPHA:228346 |
Pfeiffer Syndrome Type 3 |
|
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney |
ORPHA:93260 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... |
ORPHA:1834 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Reduced renal corticomedullary differentiation |
OMIM:618541 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... |
ORPHA:3467 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral... |
ORPHA:391641 |
Congenital Myopathy 19 |
|
Renal atrophy, Hydronephrosis |
OMIM:618578 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Renal cyst, Horseshoe kidney, Hypoautofluorescent retinal lesion, Rod-cone dystrophy, Retinal deg... |
OMIM:250410 |
Sclerosing Cholangitis, Neonatal |
|
Vesicoureteral reflux |
OMIM:617394 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren... |
OMIM:256300 |
Neurooculocardiogenitourinary Syndrome |
|
Bilateral cryptorchidism, Coloboma, Sensorineural hearing impairment, Low-set ears |
OMIM:618652 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy, Hypergonadotropic hypogonadism |
OMIM:614307 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Polyuria, Mottled pigmentation of photoexposed areas, Pigmentary retinopathy, Proximal tubulopath... |
OMIM:560000 |
Cree Mental Retardation Syndrome |
|
Bifid scrotum, Hypospadias, Posteriorly rotated ears, Cryptorchidism, Coloboma, Low-set ears |
OMIM:606851 |
Opitz Gbbb Syndrome |
|
Hypospadias, Rectourethral fistula, Congenital posterior urethral valve, Vesicoureteral reflux, M... |
OMIM:300000 |
Fraser Syndrome 3 |
|
Ureteral agenesis, Hypoplasia of the bladder, Hypoplasia of penis, Bilateral renal agenesis |
OMIM:617667 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Renal insufficiency, Renal agenesis, Ectopic kidney, Horseshoe kidney, Vesicoureteral reflux |
ORPHA:140952 |
Hsd10 Mitochondrial Disease |
|
Optic atrophy, Retinal degeneration |
OMIM:300438 |
White-Kernohan Syndrome |
|
Hydroureter, Hydronephrosis, Horseshoe kidney |
OMIM:619426 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Multicystic kidney dysplasia, Hydrocephalus... |
OMIM:615287 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Stillbirth, Hepatic cysts, Cystic renal dysplasia, Enlarged kidney |
OMIM:615415 |
Spastic Paraplegia Type 2 |
|
Spastic/hyperactive bladder, Optic atrophy |
ORPHA:99015 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Iris coloboma, Hearing impairment |
OMIM:610023 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal tubular dysfunction, Renal insufficiency, Optic atrophy |
ORPHA:289916 |
Preeclampsia |
|
Chronic kidney disease, Acute kidney injury, Proteinuria, Abnormality of the kidney |
ORPHA:275555 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Cryptorchidism, Coloboma, Branchial anomaly, Abnormal autonomic nervous system physiology, Abnorm... |
ORPHA:453499 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Sensorineural hearing impairment, Streak ovary |
OMIM:617565 |
Familial Isolated Hyperparathyroidism |
|
Nephrocalcinosis, Hypercalciuria, Renal insufficiency, Hyperphosphaturia |
ORPHA:99879 |
Joubert Syndrome 8 |
|
Molar tooth sign on MRI, Occipital encephalocele, Pigmentary retinopathy, Optic disc pallor |
OMIM:612291 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Reduced renal... |
OMIM:266920 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence |
OMIM:300029 |
Suleiman-El-Hattab Syndrome |
|
Optic disc pallor, Hydronephrosis |
OMIM:618950 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Renal tubular atrophy, Reduced renal cor... |
OMIM:208085 |
3C Syndrome |
|
Hypoplasia of penis, Hypospadias, Hydrocephalus, Optic atrophy, Hydronephrosis, Chorioretinal col... |
ORPHA:7 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Coloboma, Macrotia, Low-set ears, Cryptorchidism |
OMIM:616789 |
Developmental And Epileptic Encephalopathy 61 |
|
Optic atrophy |
OMIM:617933 |
2Q31.1 Microdeletion Syndrome |
|
Coloboma, Optic disc coloboma, Iris coloboma |
ORPHA:251014 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... |
ORPHA:1652 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Vesicoureteral reflux, Renal insufficiency, Hypoplasia of penis |
ORPHA:96147 |
Galloway-Mowat Syndrome 5 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:617731 |
Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
ORPHA:347 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Hypertrophy of the urinary bladder, Unilateral renal dysplasia, Congenital megaurete... |
ORPHA:280633 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Patent ductus arteriosus, Stillbirth, Renal hypoplasia, Renal cyst |
OMIM:616300 |
Spastic Paraplegia Type 7 |
|
Urinary urgency, Optic disc pallor, Optic atrophy |
ORPHA:99013 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Partial vaginal septum, Renal agenesis, Abnormal uterine cervix morphology, Uterus didelphys, Hyd... |
ORPHA:3411 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Abnormality of skin pigmentation, Coloboma, Optic atrophy, Low-set ears |
OMIM:612379 |
Isotretinoin-Like Syndrome |
|
Hydrocephalus, Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of the external aud... |
ORPHA:2306 |
Neurofaciodigitorenal Syndrome |
|
Unilateral renal agenesis |
ORPHA:2673 |
Raine Syndrome |
|
Hydroureter, Hydronephrosis |
OMIM:259775 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Decreased nerve conduction velocity, Optic atrophy, Abnormal peripheral action potential amplitud... |
ORPHA:457205 |
Rauch-Steindl Syndrome |
|
Hyperechogenic kidneys, Bilateral renal hypoplasia |
OMIM:619695 |
Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Ureteral stenosis, Renal hypoplasia |
OMIM:270100 |
Currarino Syndrome |
|
Recurrent urinary tract infections, Neurogenic bladder, Urinary incontinence, Horseshoe kidney, V... |
OMIM:176450 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic disc pallor, Hypospadias, Optic nerve hypoplasia, Unilateral renal agenesis, Microphallus, ... |
ORPHA:468631 |
Laurence-Moon Syndrome |
|
Renal insufficiency, Hypoplasia of penis, Displacement of the urethral meatus |
ORPHA:2377 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Crystalluria, Renal insufficiency, Hyperuricosuria, Uric acid nephrolithiasis, Acute kidney injury |
ORPHA:411543 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Renal cyst, Vesicoureteral reflux, Micrope... |
ORPHA:261494 |
Cockayne Syndrome |
|
Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Perip... |
ORPHA:191 |
Saethre-Chotzen Syndrome |
|
Prominent crus of helix, External ear malformation, Sensorineural hearing impairment, Optic atrop... |
ORPHA:794 |
Neural Tube Defects, Susceptibility To |
|
Urinary incontinence, Hydrocephalus, Myelomeningocele, Anencephaly, Spina bifida occulta |
OMIM:182940 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Stage 5... |
ORPHA:567548 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Optic atrophy, Unilateral renal agenesis |
OMIM:101800 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Microtia |
OMIM:614851 |
Premature Ovarian Failure 7 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele... |
OMIM:612964 |
3-Methylglutaconic Aciduria, Type I |
|
3-Methylglutaconic aciduria, Optic atrophy, Urinary incontinence |
OMIM:250950 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Organic aciduria, Optic atrophy, Facial palsy |
OMIM:614707 |
Zellweger Syndrome |
|
Multicystic kidney dysplasia, Abnormal chorioretinal morphology, Hypospadias, Brushfield spots, O... |
ORPHA:912 |
Pseudo-Torch Syndrome 2 |
|
Patent ductus arteriosus, Abnormal renal corticomedullary differentiation |
OMIM:617397 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Rod-cone dystrophy, Renal cyst, Horseshoe kidney, Cafe-au-lait spot, Retinal degeneration |
ORPHA:166035 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Bladder diverticulum, ... |
OMIM:129900 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Enlarged kidney, Patent urachus, Aplasi... |
OMIM:618280 |
Stt3B-Cdg |
|
Micropenis, Optic atrophy |
ORPHA:370924 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Optic atrophy |
OMIM:618236 |
Deafness, Dystonia, And Cerebral Hypomyelination |
|
Optic atrophy |
OMIM:300475 |
Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... |
ORPHA:373 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:308940 |
Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
Congenital Myopathy 17 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia |
OMIM:618975 |
Aniridia 2 |
|
Aniridia, Optic atrophy, Iris coloboma |
OMIM:617141 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology... |
ORPHA:1215 |
Developmental And Epileptic Encephalopathy 48 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:617276 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Sensorineural hearing impairment, Hydrocephalus, Coloboma, Agenesis of corpus callosum, Retinal d... |
OMIM:615249 |
Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Choroidal neovascularization, Retinal crystals, Calcium oxala... |
OMIM:259900 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney,... |
ORPHA:464306 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, External genital hypoplasia, Ambiguous genitalia, female, Ambiguous geni... |
OMIM:249000 |
Myh9-Related Disease |
|
Nephropathy, Renal insufficiency, Proteinuria, Nephritis |
ORPHA:182050 |
Developmental And Epileptic Encephalopathy 28 |
|
Optic atrophy, Retinal degeneration |
OMIM:616211 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Stillbirth, Hydronephrosis, Unilateral renal agenesis |
OMIM:308050 |
Trisomy 20P |
|
Low-set, posteriorly rotated ears, Hypospadias, Abnormality of the kidney, Spina bifida, Cryptorc... |
ORPHA:261318 |
Aicardi Syndrome |
|
Retinal detachment, Spina bifida, Chorioretinal lacunae, Optic disc coloboma, Optic atrophy |
OMIM:304050 |
Cerebellar-Facial-Dental Syndrome |
|
Ureteropelvic junction obstruction, Abnormal midbrain morphology, Hypoplasia of the pons, Cryptor... |
ORPHA:444072 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
Pontocerebellar Hypoplasia Type 10 |
|
Optic atrophy, Abnormal brainstem morphology |
ORPHA:411493 |
Joubert Syndrome 27 |
|
Molar tooth sign on MRI, Retinopathy, Dilatation of the renal pelvis |
OMIM:617120 |
Loose Anagen Syndrome |
|
Iris coloboma |
ORPHA:168 |
Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus, Optic atrophy |
OMIM:615191 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Nephrolithiasis, Hypercalciuria, Congenital megaureter, Multiple renal cyst... |
ORPHA:116 |
Femoral-Facial Syndrome |
|
Long penis, Polycystic kidney dysplasia, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:1988 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... |
OMIM:301006 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Peripheral axonal neuropathy, Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:610743 |
3-Methylglutaconic Aciduria, Type Ix |
|
3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Optic atrophy, Urinary incontinence |
OMIM:617698 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Optic atrophy |
OMIM:619057 |
Pontocerebellar Hypoplasia, Type 11 |
|
Coloboma, Macrotia, Agenesis of corpus callosum |
OMIM:617695 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Optic atrophy |
ORPHA:254343 |
Fryns Syndrome |
|
Ureteral duplication, Renal agenesis, Hypospadias, Renal cyst, Hydronephrosis |
OMIM:229850 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Proximal tubulopathy, Renal cyst |
OMIM:602579 |
Renal Hypodysplasia/Aplasia 1 |
|
Proteinuria, Bicornuate uterus, Bilateral renal agenesis, Vaginal atresia, Low-set ears, Renal dy... |
OMIM:191830 |
Chromosome 10Q26 Deletion Syndrome |
|
Vesicoureteral reflux, Micropenis |
OMIM:609625 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... |
OMIM:614837 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Vertigo, Optic atrophy, Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum, Hear... |
ORPHA:79279 |
Leukodystrophy, Hypomyelinating, 21 |
|
Optic atrophy |
OMIM:619310 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Micropenis, Optic atrophy |
OMIM:615597 |
Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Renal agenesis, Absent external genitalia, Hydrocephalus, Ureth... |
OMIM:273395 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Abnormal nerve conduction velocity, Optic atrophy |
ORPHA:99014 |
Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Renal cyst, Agenesis of corpus callosum, Death in infancy, Hypospadias, Brushfield spots, Cryptor... |
OMIM:614866 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Peutz-Jeghers Syndrome |
|
Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts |
ORPHA:2869 |
Leigh Syndrome |
|
Focal substantia nigra T2 hyperintensity, Sensorineural hearing impairment, Optic atrophy, Pigmen... |
OMIM:256000 |
Acrocallosal Syndrome |
|
Abnormal pinna morphology, Posteriorly rotated ears, Hypospadias, Cryptorchidism, Optic atrophy, ... |
OMIM:200990 |
Orofaciodigital Syndrome Xvi |
|
Molar tooth sign on MRI, Ventriculomegaly, Retinopathy, Low-set ears |
OMIM:617563 |
Juvenile Glaucoma |
|
Optic neuropathy, Retinal arterial occlusion, Retinal vein occlusion, Abnormal optic nerve morpho... |
ORPHA:98977 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Bilateral renal agenesis, Unilateral renal agenesis, Hydroureter |
OMIM:619194 |
Leber Optic Atrophy |
|
Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy, Optic neuropathy |
OMIM:535000 |
Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Chor... |
ORPHA:50 |
Meckel Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Urethral atresia |
ORPHA:564 |
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome |
|
Optic atrophy |
ORPHA:477814 |
Deafness, Autosomal Recessive 108 |
|
Iris coloboma |
OMIM:617654 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Pigmentary retinopathy, Hearing impairment |
ORPHA:329336 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Aqueductal stenosis, Microtia, Abnormality of the uterus, Renal hypoplasia/aplasia |
ORPHA:1788 |
Baraitser-Winter Syndrome 2 |
|
Coloboma, Agenesis of corpus callosum, Abnormal pinna morphology, Hearing impairment |
OMIM:614583 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Recurrent urinary tract infections, Optic disc coloboma, Renal hypoplasia |
OMIM:617157 |
Arthrogryposis, Distal, Type 5 |
|
Abnormality of retinal pigmentation, Retinal fold, Protruding ear |
OMIM:108145 |
Meckel Syndrome, Type 3 |
|
Multicystic kidney dysplasia |
OMIM:607361 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Renal insufficiency, Retinal dystrophy |
ORPHA:713 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Pigmentary retinopathy, Optic atrophy |
OMIM:252011 |
Spinocerebellar Ataxia 13 |
|
Optic atrophy |
OMIM:605259 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, Micropenis, Penile hypospadia... |
ORPHA:456328 |
Meckel Syndrome, Type 2 |
|
Renal cyst |
OMIM:603194 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality of the urinary system, Congenital megau... |
ORPHA:369837 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... |
OMIM:301068 |
Andersen-Tawil Syndrome |
|
Renal tubular dysfunction, Renal hypoplasia |
ORPHA:37553 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Posteriorly rotated ears, Unilateral renal agenesis, Elevated circulating luteinizing hormone lev... |
OMIM:618419 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Urinary urgency, Optic atrophy, Urinary incontinence |
OMIM:612319 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612924 |
Cerebrofacioarticular Syndrome |
|
Hypospadias, Renal hypoplasia |
ORPHA:314679 |
Late-Onset Retinal Degeneration |
|
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... |
ORPHA:67042 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral cryptorchidism, Cryptor... |
ORPHA:261529 |
Walker-Warburg Syndrome |
|
Retinal detachment, Hypoplasia of penis, Posteriorly rotated ears, Chorioretinal dysplasia, Retin... |
ORPHA:899 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Multiple small medullary renal cysts, Chorioretinal atrophy, Renal ... |
OMIM:118450 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Hypospadias, Hydroureter, Micropenis, Hydronephrosis |
OMIM:269150 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... |
ORPHA:432 |
Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Unilateral renal agenesis, Stage 2 chronic kidney disease, Stage 5 chr... |
OMIM:620305 |
Kury-Isidor Syndrome |
|
Exudative vitreoretinopathy, Hydronephrosis |
OMIM:619762 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation |
ORPHA:171844 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Optic atrophy, Retinal dysplasia |
ORPHA:272 |
Hypomagnesemia 2, Renal |
|
Renal magnesium wasting, Renal insufficiency, Hypocalciuria |
OMIM:154020 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612926 |
Leukoencephalopathy With Ataxia |
|
Chorioretinal atrophy, Retinoschisis, Choroidal neovascularization, Optic neuropathy |
OMIM:615651 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Hypertensive retinopathy, Abnormal urine sodium concentration, Nephrocalcino... |
ORPHA:320 |
Cat Eye Syndrome |
|
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Horseshoe kidney |
OMIM:115470 |
Distal Monosomy 7Q36 |
|
Hypoplasia of penis, Optic atrophy, Holoprosencephaly |
ORPHA:1636 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Unilateral renal agenesis |
ORPHA:221139 |
Mucopolysaccharidosis, Type Ii |
|
Papilledema, Abnormality of retinal pigmentation, Heparan sulfate excretion in urine, Hydrocephal... |
OMIM:309900 |
Alg1-Cdg |
|
Nephrotic syndrome, Renal insufficiency, Abnormality of the kidney |
ORPHA:79327 |
Cone-Rod Dystrophy 10 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:610283 |
Short-Rib Thoracic Dysplasia 12 |
|
Neonatal death, Patent ductus arteriosus, Renal hypoplasia, Cystic renal dysplasia |
OMIM:269860 |
Wiedemann-Rautenstrauch Syndrome |
|
Recurrent urinary tract infections, Optic disc hypoplasia, Hypospadias, Hydrocephalus, Wide penis... |
ORPHA:3455 |
Transcobalamin Deficiency |
|
Acute kidney injury, Methylmalonic aciduria |
ORPHA:859 |
Xanthinuria, Type I |
|
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis |
OMIM:278300 |
Spastic Paraplegia 5A, Autosomal Recessive |
|
Optic atrophy, Urinary incontinence |
OMIM:270800 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Abnormal pinna morphology, Posteriorly rotated ears, Hypospadias, Cryptorchidism, Sensorineural h... |
OMIM:616975 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Death in childhood, Retinal pigment epithelial mottling, Partial agenesis of the corpus callosum,... |
OMIM:619517 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1264 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Aqueductal stenosis, Abnormality of retinal pigmentation, Agenesis of corpus callosum |
ORPHA:1496 |
Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ... |
OMIM:301050 |
Cardiac Valvular Dysplasia 1 |
|
Urethral diverticulum, Hydroureter, Hydronephrosis |
OMIM:212093 |
Mulibrey Nanism |
|
Pigmentary retinopathy, Nephroblastoma, Iris coloboma |
OMIM:253250 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R... |
OMIM:300554 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... |
OMIM:602522 |
Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia... |
OMIM:615300 |
Optic Pathway Glioma |
|
Papilledema, Hydrocephalus, Neurofibroma, Optic atrophy |
ORPHA:2086 |
Joubert Syndrome 33 |
|
Cone/cone-rod dystrophy, Molar tooth sign on MRI |
OMIM:617767 |
Mosaic Trisomy 8 |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:96061 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury |
OMIM:268200 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Pigmentary retinopathy,... |
ORPHA:436271 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Otodental Dysplasia |
|
Coloboma, Sensorineural hearing impairment |
OMIM:166750 |
Refsum Disease |
|
Abnormality of retinal pigmentation, Renal insufficiency, Retinopathy, Sensorineural hearing impa... |
ORPHA:773 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Pigmentary retinopathy |
OMIM:618234 |
3-Methylglutaconic Aciduria Type 7 |
|
Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst |
ORPHA:445038 |
Von Hippel-Lindau Disease |
|
Papilledema, Retinal detachment, Hypertensive retinopathy, Elevated urinary catecholamine level, ... |
ORPHA:892 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Optic atrophy, Megalopapilla, Renal cyst, Hyperechogenic ... |
OMIM:615636 |
Immunodeficiency 91 And Hyperinflammation |
|
Death in infancy, Renal insufficiency, Membranoproliferative glomerulonephritis, Hemolytic-uremic... |
OMIM:619644 |
Van Maldergem Syndrome 1 |
|
Hypospadias, Renal hypoplasia |
OMIM:601390 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:616730 |
Phelan-Mcdermid Syndrome |
|
Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia |
OMIM:606232 |
Donnai-Barrow Syndrome |
|
Retinal detachment, Posteriorly rotated ears, Retinal dystrophy, Proteinuria, Non-acidotic proxim... |
OMIM:222448 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Optic nerve hypoplasia, Optic disc coloboma, Iris coloboma |
ORPHA:536471 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hydronephrosis |
OMIM:619797 |
Fryns Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis |
ORPHA:2059 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Congenital stationary night blindness, Abnormal midbrain morphology, Hearing impai... |
ORPHA:314621 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Optic atrophy, Hydronephrosis |
ORPHA:457193 |
Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... |
OMIM:618117 |
Al-Gazali-Bakalinova Syndrome |
|
Molar tooth sign on MRI, Agenesis of corpus callosum, Low-set ears |
OMIM:607131 |
Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Joubert Syndrome 23 |
|
Coloboma, Sensorineural hearing impairment, Dysplastic corpus callosum |
OMIM:616490 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Optic nerve hypoplasia, Supernumerary nipple, Cryptorchidism, Sensorineural hearing impairment, V... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Optic nerve hypoplasia, Supernumerary nipple, Cryptorchidism, Sensorineural hearing impairment, V... |
ORPHA:352665 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Posteriorly rotated ears, Hypospadias, Brushfield spots, Cryptorchidism, Senso... |
OMIM:214100 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency |
ORPHA:3222 |
Wildervanck Syndrome |
|
Pseudopapilledema, Facial palsy |
ORPHA:3456 |
Silver-Russell Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of male external genitalia, Hypospadias, Precociou... |
ORPHA:813 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
ORPHA:329284 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Chorioretinal dysplasia, Epispadias, Abnormality of the ear, Vitritis, Abnormality of skin pigmen... |
ORPHA:2556 |
Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Cryptorchidism, Sensorineural heari... |
ORPHA:193 |
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
Cherry red spot of the macula, Optic disc pallor |
OMIM:615281 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Facial palsy, Abnormality of macular pigmentation, Abnormal autonomic nervous ... |
ORPHA:97229 |
Fanconi Anemia |
|
Recurrent urinary tract infections, Hydroureter, Aganglionic megacolon, Hypospadias, Renal insuff... |
ORPHA:84 |
Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... |
ORPHA:2322 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Optic disc pallor |
OMIM:618230 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Renal hypoplasia |
ORPHA:3138 |
Joubert Syndrome 32 |
|
Molar tooth sign on MRI, Abnormal cerebellum morphology |
OMIM:617757 |
Facial Clefting, Oblique, 1 |
|
Coloboma |
OMIM:600251 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Premature graying of hair, Coloboma, Hydronephrosis... |
ORPHA:1297 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Nephropathy, Retinopathy |
ORPHA:213 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Renal insufficiency, Hypospadias, Miscarriage, Chordee, Renal dysplasia, Retinal degeneration |
ORPHA:96179 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology, Ventriculomegaly |
ORPHA:255182 |
Chops Syndrome |
|
Vesicoureteral reflux, Horseshoe kidney |
OMIM:616368 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Renal cyst |
ORPHA:480536 |
Congenital Disorder Of Glycosylation, Type Il |
|
Polycystic kidney dysplasia |
OMIM:608776 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney, Ectopic kidney |
OMIM:235510 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Vesicoureteral reflux, Renal cortical cysts |
OMIM:618548 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina... |
ORPHA:5 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ... |
OMIM:617547 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Myelomeningocele, Hydronephrosis |
OMIM:620141 |
Alg3-Cdg |
|
Abnormal pinna morphology, Hypoplasia of the pons, Neural tube defect, Dandy-Walker malformation,... |
ORPHA:79321 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Abnormal retinal morphology, Facial palsy, Optic atrophy, Optic neuritis, Sensory axonal neuropathy |
ORPHA:254886 |
Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... |
OMIM:617690 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2521 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Protruding ear |
ORPHA:2518 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypospadias, Urolithiasis, Hyperuricosuria, Uric acid nephrolithiasis |
OMIM:300661 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Macular coloboma, Abnormal auditory evoked potentials, Macular atrophy, Geogra... |
OMIM:619260 |
Humero-Radial Synostosis |
|
Meningocele, Iris coloboma, Chorioretinal coloboma |
ORPHA:3265 |
Pallister-Killian Syndrome |
|
Small scrotum, Posteriorly rotated ears, Hypospadias, Supernumerary nipple, Cryptorchidism, Hyper... |
OMIM:601803 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Optic atrophy, Cystic renal dy... |
OMIM:220500 |
Van Maldergem Syndrome 2 |
|
Micropenis, Hypospadias, Renal hypoplasia |
OMIM:615546 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Abnormality of the... |
ORPHA:3339 |
Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf... |
ORPHA:449395 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma |
OMIM:610092 |
Tetrasomy 15Q26 |
|
Hydrocephalus, Hydronephrosis, Horseshoe kidney |
OMIM:614846 |
Mody |
|
Abnormality of the kidney, Renal cyst, Glycosuria, Nephropathy, Retinopathy |
ORPHA:552 |
Woodhouse-Sakati Syndrome |
|
Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... |
OMIM:241080 |
Dextrocardia |
|
Abnormal renal morphology, Abnormality of the ureter |
ORPHA:1666 |
Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... |
OMIM:617730 |
Humeroradial Synostosis |
|
Renal insufficiency |
OMIM:236400 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, Ocular albinism, Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebell... |
ORPHA:2720 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Vesicoureteral reflux |
OMIM:615895 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Spina bifida occulta, Hydronephrosis |
OMIM:618060 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Optic atrophy, Sensory axonal neuropathy, Motor axonal neuropathy |
OMIM:609541 |
Johanson-Blizzard Syndrome |
|
Death in infancy, Hypoplasia of penis, Hypospadias, Sensorineural hearing impairment, Abnormal va... |
ORPHA:2315 |
Superficial Siderosis |
|
Vertigo, Functional abnormality of the bladder, Abnormality of the vestibulocochlear nerve, Abnor... |
ORPHA:247245 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hyperphosphaturia, Precocious puberty, Horseshoe kidney, Coloboma, Hypopigmentation of the skin |
OMIM:163200 |
Distal Duplication 17Q |
|
Vesicoureteral reflux, Renal duplication |
ORPHA:3379 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Optic disc pallor, Choroidal neovascularization, Aciduria, Calcium oxalate nephrol... |
ORPHA:416 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Glycosuria |
OMIM:600001 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Ureteral atresia, Polycystic kidney dysplasi... |
OMIM:208540 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Hydrocephalus, Midline brainstem cleft |
OMIM:617542 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Optic atrophy, Retinal dystrophy |
ORPHA:49827 |
Muckle-Wells Syndrome |
|
Renal insufficiency, Renal amyloidosis |
OMIM:191900 |
1Q21.1 Microdeletion Syndrome |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:250989 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Vesicoureteral reflux |
OMIM:618076 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Cranioectodermal Dysplasia 3 |
|
Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:614099 |
Glaucoma, Primary Closed-Angle |
|
Increased cup-to-disc ratio |
OMIM:618880 |
Distal Renal Tubular Acidosis |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct |
ORPHA:18 |
Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Renal hypoplasia, Unilateral renal agenesis, Pyelonephritis |
OMIM:181270 |
Tetraploidy |
|
Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:3305 |
Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Blind vagina, Elevated circulating follicle stimu... |
OMIM:300068 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Hypoplasia of the pons, Hydrocephalus, Optic atrophy, Pigmentary retinopathy, Retinal dysplasia, ... |
OMIM:613154 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Fetal megacystis |
ORPHA:73246 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Renal insufficiency, Optic atrophy |
ORPHA:79312 |
Bohring-Opitz Syndrome |
|
Vesicoureteral reflux |
OMIM:605039 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Unilateral renal agenesis, Optic atrophy, Hydronephrosis, Hypospadias |
ORPHA:487796 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Pigmentary retinopathy,... |
OMIM:220110 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
External genital hypoplasia, Cryptorchidism, Coloboma, Low-set ears, Micropenis, Abnormality of t... |
ORPHA:251028 |
Beckwith-Wiedemann Syndrome |
|
Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Vesicoureteral reflux, Nephroblastoma, E... |
OMIM:130650 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Sensorineural hearing impairment |
ORPHA:290 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Pigmentary retinopathy, Retinal degeneration |
ORPHA:79264 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Posteriorly rotated ears, Sensorineural hearing impairment, Hydrocephalus, Pigmentary retinopathy... |
OMIM:612582 |
Madras Motor Neuron Disease |
|
Optic atrophy, Facial palsy |
ORPHA:137867 |
Neuronal Intranuclear Inclusion Disease |
|
Optic atrophy |
ORPHA:2289 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Hypospadias, Unilateral renal agenesis, Enlarged polycystic ovaries, Dilatation of the renal pelv... |
ORPHA:95699 |
Papilloma Of Choroid Plexus |
|
Papilledema, Hydrocephalus |
OMIM:260500 |
Primary Hyperoxaluria Type 1 |
|
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... |
ORPHA:93598 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
Triple A Syndrome |
|
Generalized hyperpigmentation, Optic atrophy, Iris coloboma, Motor axonal neuropathy |
ORPHA:869 |
Meckel Syndrome, Type 6 |
|
Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney |
OMIM:612284 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Optic atrophy, Horseshoe kidney |
OMIM:617664 |
Brain-Lung-Thyroid Syndrome |
|
Vesicoureteral reflux, Hypospadias, Megacystis |
ORPHA:209905 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Patent ductus arteriosus, Renal cyst |
ORPHA:488618 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Hearing impairment, Non-obstructive azoospermia, Cr... |
ORPHA:2232 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys |
OMIM:620047 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Retinal detachment, Death in infancy, Remnants of the hyaloid vascular system, Opt... |
OMIM:614643 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... |
ORPHA:3130 |
Koolen-De Vries Syndrome |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Hydronephrosis |
OMIM:610443 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Retinal pigment epithelial mottling, Methylmalonic acidur... |
OMIM:614105 |
Pancreas, Annular |
|
Annular pancreas |
OMIM:167750 |
Annular Pancreas |
|
Annular pancreas |
ORPHA:675 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Bone spicule pigmentation of the retina, Retinal dystrophy, Abnormalit... |
OMIM:209900 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Partial agenesis of the corpus callosum, Renal cyst, Chiari type I ... |
OMIM:270400 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly |
ORPHA:588 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Iris coloboma, Chorioretinal coloboma |
OMIM:613702 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis |
OMIM:618653 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:216866 |
Interstitial Cystitis |
|
Abnormal labia morphology, Abnormality of the urethra, Urinary bladder inflammation, Functional a... |
ORPHA:37202 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cerebellar atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic ... |
OMIM:610651 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis |
OMIM:618913 |
Amed Syndrome, Digenic |
|
Hypoplasia of the uterus, Hyperpigmentation of the skin |
OMIM:619151 |
Chromosome Xp11.3 Deletion Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels |
OMIM:300578 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Renal insufficiency, Proteinuria, Hypermelanotic macule, Cry... |
ORPHA:90321 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor |
OMIM:619170 |
Retinitis Pigmentosa 37 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration |
OMIM:611131 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level |
OMIM:617442 |
Alkuraya-Kucinskas Syndrome |
|
Ventriculomegaly, Posteriorly rotated ears, Hydrocephalus, Hypoplasia of the brainstem, Kinked br... |
OMIM:617822 |
Leukodystrophy, Progressive, Early Childhood-Onset |
|
Optic disc pallor, Neurogenic bladder |
OMIM:617762 |
Immunodeficiency 96 |
|
Multicystic kidney dysplasia |
OMIM:619774 |
Microcephaly, Amish Type |
|
Hypoplasia of the fovea, Optic atrophy |
OMIM:607196 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Optic disc pallor, Hypospadias, Ectopic kidney, Hydrocephalus, Optic disc coloboma, Optic atrophy |
OMIM:607872 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia |
OMIM:619980 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... |
OMIM:619665 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Optic disc pallor |
ORPHA:3173 |
Goldberg-Shprintzen Syndrome |
|
Vesicoureteral reflux |
OMIM:609460 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... |
OMIM:616959 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Hydrocephalus, Urethral stenosis, Polycystic kidney dysplasi... |
ORPHA:261290 |
Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... |
OMIM:612310 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Renal insufficiency, Optic atrophy |
ORPHA:27 |
Osteopetrosis, Autosomal Recessive 8 |
|
Optic atrophy, Facial palsy |
OMIM:615085 |
Roifman-Chitayat Syndrome |
|
Optic atrophy, Ectopic kidney |
OMIM:613328 |
Glucose-Galactose Malabsorption |
|
Hematuria, Renal insufficiency, Nephrolithiasis |
ORPHA:35710 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... |
ORPHA:3464 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Patent ductus arteriosus, Unilateral renal agenesis |
OMIM:213980 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst... |
ORPHA:157 |
Pontocerebellar Hypoplasia, Type 16 |
|
Recurrent urinary tract infections, Optic atrophy |
OMIM:619527 |
Enhanced S-Cone Syndrome |
|
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema |
OMIM:268100 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Renal cyst |
ORPHA:79303 |
Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Stage 3 chronic kidney disease |
OMIM:620366 |
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
|
Optic atrophy |
ORPHA:1154 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Patent ductus arterios... |
OMIM:267010 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Renal malrotation, Posteriorly rotated ears, Decreased response to growth hormone stimulation tes... |
OMIM:615866 |
Retinitis Pigmentosa 75 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:617023 |
Spastic Paraplegia 7, Autosomal Recessive |
|
Urinary urgency, Urinary bladder sphincter dysfunction, Optic atrophy, Urinary incontinence |
OMIM:607259 |
Smith-Magenis Syndrome |
|
Abnormality of the ureter, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:819 |
Chromosome 19P13.13 Deletion Syndrome |
|
Optic atrophy, Optic nerve hypoplasia |
OMIM:613638 |
Leopard Syndrome 1 |
|
Micropenis, Hypospadias, Unilateral renal agenesis |
OMIM:151100 |
Chromosome 16Q12 Duplication Syndrome |
|
Temporal optic disc pallor, Retinal pigment epithelial mottling |
OMIM:619649 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Acut... |
ORPHA:368 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Optic atrophy |
OMIM:614651 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Optic disc coloboma, Facial palsy, Iris coloboma |
OMIM:620186 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts |
ORPHA:1318 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Hydrocephalus, Dilatation of the renal pelvis, Horseshoe kidney, Polyc... |
ORPHA:314588 |
Leukodystrophy, Hypomyelinating, 22 |
|
Optic disc pallor |
OMIM:619328 |
Enamel-Renal Syndrome |
|
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... |
ORPHA:1031 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Abnormal pinna morphology, Hydrocephalus, Abnormal renal morphology, Hypoplastic labia majora, St... |
OMIM:207410 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Grade II vesicoureteral reflux |
OMIM:619377 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... |
ORPHA:637 |
Pagod Syndrome |
|
Encephalocele, Death in infancy, Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/apl... |
ORPHA:991 |
Alstrom Syndrome |
|
Cone/cone-rod dystrophy, Renal insufficiency, Hypergonadotropic hypogonadism, Decreased response ... |
OMIM:203800 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Renal hypoplasia |
ORPHA:264200 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Optic atrophy, Abnormal brai... |
ORPHA:98755 |
Serkal Syndrome |
|
Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias |
ORPHA:139466 |
Congenital Disorder Of Glycosylation, Type If |
|
Optic atrophy, Renal cortical cysts |
OMIM:609180 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias |
ORPHA:2115 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... |
OMIM:619609 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia |
OMIM:263210 |
Krabbe Disease |
|
Decreased nerve conduction velocity, Hydrocephalus, Optic atrophy, Peripheral demyelination |
OMIM:245200 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney dise... |
OMIM:617575 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydrocephalus, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Liddle Syndrome 1 |
|
Renal insufficiency |
OMIM:177200 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia |
ORPHA:3015 |
Arts Syndrome |
|
Optic atrophy |
OMIM:301835 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Renal cyst |
OMIM:615560 |
Charge Syndrome |
|
External genital hypoplasia, Decreased response to growth hormone stimulation test, Gonadotropin ... |
OMIM:214800 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Decreased nerve conduction velocity, Rod-cone dystrophy, Optic atrophy |
OMIM:612674 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Female hypogonadism, Nephrocalcinosis, Perifoveal ring of hyperautofluorescen... |
OMIM:240300 |
Alagille Syndrome |
|
Nephrotic syndrome, Abnormality of the ureter, Renal hypoplasia/aplasia |
ORPHA:52 |
Kearns-Sayre Syndrome |
|
Renal tubular acidosis, Sensorineural hearing impairment, Renal Fanconi syndrome, Pigmentary reti... |
OMIM:530000 |
Vacterl/Vater Association |
|
Occipital encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal ag... |
ORPHA:887 |
Atelosteogenesis Type I |
|
Multiple renal cysts, Retinal dysplasia |
ORPHA:1190 |
X-Linked Intellectual Disability, Najm Type |
|
Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma |
ORPHA:163937 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Urinary urgency, Peripheral axonal neuropathy, Optic atrophy |
OMIM:601338 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia |
OMIM:618829 |
Recombinant Chromosome 8 Syndrome |
|
Hydronephrosis |
OMIM:179613 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal detachment, Chorioretinal dysplasia, Chorioretinal lacunae, Optic atrophy, Retinal fold |
OMIM:152950 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Cryptorchidism, Bicornuate uterus |
OMIM:615524 |
Kinsship Syndrome |
|
Renal hypoplasia, Horseshoe kidney |
OMIM:619297 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication |
ORPHA:2255 |
Spinocerebellar Ataxia, Autosomal Recessive 28 |
|
Optic atrophy |
OMIM:618800 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pigmentary retinopathy |
OMIM:619059 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... |
OMIM:619203 |
Mpdu1-Cdg |
|
Optic atrophy, Renal cortical cysts |
ORPHA:79323 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Retinal detachment, Abnormal optic chiasm morphology, Recurrent urinary tract infections, Hypospa... |
ORPHA:268261 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Abnormality of the uterus, Chorioretinal colo... |
ORPHA:857 |
Woods Syndrome |
|
Optic atrophy |
OMIM:615236 |
Hyperprolinemia Type 2 |
|
Hydroxyprolinuria, Renal insufficiency, Prolinuria, Increased urine alpha-ketoglutarate concentra... |
ORPHA:79101 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Recurrent urinary tract infections, Pyelonephritis, Urethral diverticulum, Multiple bladder diver... |
ORPHA:90349 |
3-Methylglutaconic Aciduria, Type V |
|
3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Optic atrophy, Hypospadias |
OMIM:610198 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney |
OMIM:608022 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Pancreatic cysts, Chronic kidney disease, Renal cyst, Nephritis... |
OMIM:208500 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Proteinuria, Abnormal retinal vascular morphology, Macular edema, Retin... |
ORPHA:247691 |
Poland Syndrome |
|
Duplicated collecting system, Hypospadias, Renal hypoplasia/aplasia, Renal hypoplasia, Ureterocel... |
ORPHA:2911 |
Tarp Syndrome |
|
Optic atrophy, Hydronephrosis, Horseshoe kidney |
OMIM:311900 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Hydronephrosis, Micropenis, Optic nerve hypoplasia |
OMIM:612513 |
Endove Syndrome, Limb-Brain Type |
|
Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections |
OMIM:619218 |
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Renal tubular acidosis, Chronic kidney disease, 3-Methylglutaconic aciduria |
ORPHA:324525 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Urethral stricture, Vaginal stricture, Stenosis of the external auditory canal, Abnormality of th... |
ORPHA:79409 |
2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Optic nerve hypoplasia, Facial palsy, Optic atrophy, Hydronephrosis |
ORPHA:261349 |
Osteopetrosis, Autosomal Recessive 4 |
|
Optic disc pallor, Optic atrophy, Facial palsy |
OMIM:611490 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2636 |
Werner Syndrome |
|
Abnormality of retinal pigmentation, Renal neoplasm, Miscarriage, Ovarian neoplasm, Premature gra... |
ORPHA:902 |
Vater/Vacterl Association |
|
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent urachus, Vesicoureteral refl... |
OMIM:192350 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Optic atrophy, Urinary incontinence |
OMIM:618868 |
Syndromic Diarrhea |
|
Patent ductus arteriosus, Renal hypoplasia, Polycystic kidney dysplasia |
ORPHA:84064 |
Developmental And Epileptic Encephalopathy 47 |
|
Optic disc pallor, Attenuation of retinal blood vessels |
OMIM:617166 |
Cockayne Syndrome A |
|
Renal insufficiency, Retinal atrophy, Abnormal pinna morphology, Proteinuria, Abnormal auditory e... |
OMIM:216400 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Posteriorly rotated ears, Hypospadias, Lateral ventricle dilatation, Dysgenesis of the cerebellar... |
OMIM:619479 |
Restrictive Dermopathy 1 |
|
Ureteral duplication, Hypospadias |
OMIM:275210 |
Peutz-Jeghers Syndrome |
|
Abnormality of the ureter, Bladder polyp |
OMIM:175200 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Dilatation of the renal pelvis, Dilatation of the bladder, Hydronephrosis |
OMIM:265380 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, Tubulointerstiti... |
ORPHA:85450 |
Polymicrogyria Due To Tubb2B Mutation |
|
Hypoplasia of the pons, Lateral ventricle dilatation, Cerebellar atrophy, Abnormal brainstem morp... |
ORPHA:300573 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Optic disc pallor |
OMIM:616204 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Renal hypoplasia/aplasia... |
ORPHA:2473 |
15Q Overgrowth Syndrome |
|
Ureterovesical stenosis, Hydrocephalus, Abnormal renal morphology, Horseshoe kidney, Congenital s... |
ORPHA:314585 |
Attenuated Familial Adenomatous Polyposis |
|
Multiple renal cysts, Congenital hypertrophy of retinal pigment epithelium |
ORPHA:220460 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypospadias, Supernumerary nipple, Atresia of the external auditory canal, Conductive hearing imp... |
OMIM:106260 |
Babesiosis |
|
Renal insufficiency |
ORPHA:108 |
Aprosencephaly And Cerebellar Dysgenesis |
|
Poorly formed metencephalon, Aprosencephaly, Retinal dysplasia, Absent mesencephalon, Cerebellar ... |
OMIM:601374 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Micropenis, Hypospadias, Vesicoureteral reflux |
OMIM:617063 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid... |
OMIM:277400 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Nephropathy, Renal insufficiency |
OMIM:247410 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Glomerulopathy, Renal insufficiency, Ketonuria, Macular coloboma, Hemolytic-uremic syndrome, Hydr... |
ORPHA:79282 |
Hsd10 Disease, Infantile Type |
|
Retinal degeneration, Rod-cone dystrophy, Optic atrophy, Abnormal concentration of acylcarnitine ... |
ORPHA:391428 |
Cystic Echinococcosis |
|
Membranous nephropathy, Hepatic cysts, Renal cyst, Ovarian cyst |
ORPHA:400 |
Tick-Borne Encephalitis |
|
Facial palsy, Vertigo, Abnormal cranial nerve morphology, Abnormal glossopharyngeal nerve morphol... |
ORPHA:297 |
Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... |
OMIM:613843 |
Eec Syndrome |
|
Hypospadias, Renal hypoplasia/aplasia, Urethral atresia, Vesicoureteral reflux, Hydronephrosis |
ORPHA:1896 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypogonadotropic hypogonadism, Reduced circulating prolactin concentration, Decreased fertility, ... |
ORPHA:2235 |
Fraser Syndrome |
|
Low-set, posteriorly rotated ears, Encephalocele, Hypoplasia of penis, Multicystic kidney dysplas... |
ORPHA:2052 |
Bosma Arhinia Microphthalmia Syndrome |
|
Abnormal pinna morphology, Hypospadias, Absent tragus, Hypogonadotropic hypogonadism, Cryptorchid... |
OMIM:603457 |
Behr Syndrome |
|
Optic atrophy, Sensory axonal neuropathy, Hypoplastic optic chiasm |
OMIM:210000 |
Meacham Syndrome |
|
Death in infancy, Septate vagina, Male pseudohermaphroditism, Horseshoe kidney, Blind vagina, Bic... |
OMIM:608978 |
Au-Kline Syndrome |
|
Vesicoureteral reflux, Chronic kidney disease, Dilatation of the renal pelvis, Hydronephrosis |
OMIM:616580 |
Restrictive Dermopathy |
|
Ureteral duplication, Hypospadias |
ORPHA:1662 |
Zttk Syndrome |
|
Patent ductus arteriosus, Polyuria, Unilateral renal agenesis, Horseshoe kidney |
OMIM:617140 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri... |
ORPHA:99845 |
Tuberous Sclerosis Complex |
|
Renal insufficiency, Retinal astrocytic hamartoma, Abnormality of the kidney, Retinal hamartoma, ... |
ORPHA:805 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
3-Methylglutaconic aciduria, Optic atrophy |
OMIM:614739 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Ketonuria, Optic atrophy, Renal steatosis |
OMIM:261680 |
22Q11.2 Deletion Syndrome |
|
Aganglionic megacolon, Hypospadias, Spina bifida, Retinal arteriolar tortuosity, Hydrocephalus, M... |
ORPHA:567 |
Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Spina bifida, Cryptorchidism, Horseshoe kidney, Hydronephro... |
ORPHA:99776 |
Canavan Disease |
|
Optic atrophy, Elevated urinary N-acetylaspartic acid level |
OMIM:271900 |
Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:578 |
Wild Type Attr Amyloidosis |
|
Nephropathy, Renal insufficiency, Nephrotic syndrome, Proteinuria |
ORPHA:330001 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Retinopathy, Axonal degeneration, Optic atrophy, Optic neuropathy |
OMIM:616811 |
Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Posteriorly rotated ears, Low-set ears, Conductive hearing impairme... |
OMIM:277170 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Hydrolethalus Syndrome 1 |
|
Abnormal pinna morphology, Hypospadias, Bifid uterus, Anencephaly, Stillbirth, Low-set ears, Seve... |
OMIM:236680 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Hydron... |
ORPHA:709 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Vesicoureteral reflux, Micropenis |
OMIM:616894 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the ureter |
ORPHA:3253 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cryptorchidism, Sensorineural hearing impairment, Protruding ear, Pigmentary retinopathy, Low-set... |
OMIM:614230 |
Acrofacial Dysostosis 1, Nager Type |
|
Patent ductus arteriosus, Unilateral renal agenesis |
OMIM:154400 |
Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/aplasia, Horseshoe kidney, Abnormali... |
ORPHA:2092 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation, Holoprosencephaly |
ORPHA:2163 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... |
ORPHA:2975 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus |
OMIM:600705 |
Achromatopsia 2 |
|
Hypoplasia of the fovea, Retinal thinning, Absent foveal reflex, Peripapillary atrophy, Dull fove... |
OMIM:216900 |
Complement Factor I Deficiency |
|
Glomerulonephritis, Renal insufficiency, Recurrent urinary tract infections, Pyelonephritis |
OMIM:610984 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias |
ORPHA:2075 |
Infantile Refsum Disease |
|
Rod-cone dystrophy, Optic atrophy, Facial palsy |
ORPHA:772 |
Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Abnormality of the upper urin... |
ORPHA:636 |
Tuberous Sclerosis 1 |
|
Renal cyst, Achromatic retinal patches, Renal cell carcinoma, Hypomelanotic macule, Renal angiomy... |
OMIM:191100 |
Microphthalmia, Syndromic 1 |
|
Hydroureter, Aganglionic megacolon, Hypospadias, Renal hypoplasia/aplasia, Optic disc coloboma, R... |
OMIM:309800 |
Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Optic atrophy, Renal dysplasia, Hypospadias |
OMIM:300004 |
Joubert Syndrome 38 |
|
Cerebellar vermis hypoplasia, Posteriorly rotated ears, Low-set ears, Molar tooth sign on MRI, In... |
OMIM:619476 |
Solitary Median Maxillary Central Incisor |
|
Decreased response to growth hormone stimulation test, Coloboma, Holoprosencephaly, Cyclopia, Ant... |
OMIM:147250 |
Sturge-Weber Syndrome |
|
Conjunctival telangiectasia, Retinal detachment, Abnormal retinal vascular morphology, Hydrocepha... |
ORPHA:3205 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Retinal pigment epithelial mottling, Low-set ears |
OMIM:617102 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Retinal detachment, Functional abnormality of the bladder, Nephrolithiasis, Horseshoe kidney, Hyd... |
ORPHA:2953 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:618348 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Axonal degeneration, Pigmentary retinopathy, Abnormal se... |
ORPHA:88628 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,... |
OMIM:613090 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Peripheral axonal neuropathy, 3-Methylglutaconic aciduria, Optic atrophy, Optic nerve hypoplasia |
ORPHA:496790 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
Townes-Brocks Syndrome 1 |
|
Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Urethral valve, Hydrocephalus, Re... |
OMIM:107480 |
Melas |
|
Hypoparathyroidism, Peripheral axonal neuropathy, Proteinuria, Hypogonadotropic hypogonadism, Sen... |
ORPHA:550 |
Netherton Syndrome |
|
Irregular hyperpigmentation, Aminoaciduria, Hydronephrosis, Ectopic kidney |
ORPHA:634 |
Proteus Syndrome |
|
Central heterochromia, Renal cyst, Abnormality of skin pigmentation, Chorioretinal coloboma, Enla... |
ORPHA:744 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Cryptorchidism, Pancreatic lymphangiectasis, Abnormal renal morphology, Hydronephrosis, Abnormali... |
ORPHA:1655 |
Muckle-Wells Syndrome |
|
Nephropathy, Nephrotic syndrome, Optic atrophy, Renal amyloidosis |
ORPHA:575 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T... |
ORPHA:228308 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Retinopathy, Hydronephrosis |
OMIM:619269 |
Orofaciodigital Syndrome Type 6 |
|
Low-set, posteriorly rotated ears, Cerebellar vermis hypoplasia, Renal agenesis, Renal hypoplasia... |
ORPHA:2754 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation |
ORPHA:96 |
Stevenson-Carey Syndrome |
|
Coloboma, Recurrent urinary tract infections, Posteriorly rotated ears, Low-set ears |
OMIM:611961 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Coloboma, Cupped ear, Low-set ears |
OMIM:167730 |
Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Retinal hamartoma, Renal cyst, Achromatic reti... |
OMIM:613254 |
Norrie Disease |
|
Retinal detachment, Retinal fold, Optic atrophy, Retinal dysplasia |
OMIM:310600 |
Bohring-Opitz Syndrome |
|
Low-set, posteriorly rotated ears, Retinal atrophy, Optic atrophy, Annular pancreas, Coloboma, Ur... |
ORPHA:97297 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Hypoplasia of penis, Aganglionic megacolon, Abnormality of th... |
ORPHA:847 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Optic atrophy, Urinary incontinence, Motor axonal neuropathy |
ORPHA:289560 |
Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Optic atrophy, Hydrocephalus |
ORPHA:1914 |
Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
Cone-Rod Dystrophy 6 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... |
OMIM:601777 |
Cardiospondylocarpofacial Syndrome |
|
Posteriorly rotated ears, Congenital sensorineural hearing impairment, Fusion of middle ear ossic... |
OMIM:157800 |
X-Linked Intellectual Disability, Nascimento Type |
|
Vesicoureteral reflux, Micropenis, Hypospadias |
ORPHA:163956 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma |
ORPHA:231736 |
Opitz Gbbb Syndrome |
|
Vesicoureteral reflux, Abnormality of the urinary system, Hypospadias, Hydronephrosis |
ORPHA:2745 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Retinal hamartoma, Hydrocephalus, Optic atrophy, Abnormal... |
ORPHA:538 |
Microphthalmia, Syndromic 2 |
|
Retinal detachment, Remnants of the hyaloid vascular system, Posteriorly rotated ears, Asymmetry ... |
OMIM:300166 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Vertigo, Sensorineural hearing impairment, Cerebellar... |
OMIM:193300 |
Meacham Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Horseshoe kidney, Abnormal fallopian tube ... |
ORPHA:3097 |
8Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Unilateral renal agenesis, Abnormality of the kidney, Bilateral renal hyp... |
ORPHA:508488 |
Spinocerebellar Ataxia Type 13 |
|
Urinary urgency, Optic disc pallor, Optic atrophy, Urinary incontinence |
ORPHA:98768 |
Idiopathic Intracranial Hypertension |
|
Papilledema |
ORPHA:238624 |
Developmental And Epileptic Encephalopathy 93 |
|
Optic atrophy, Iris coloboma |
OMIM:618012 |
Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... |
ORPHA:821 |
Toluene Embryopathy |
|
Hydronephrosis, Abnormal localization of kidney |
ORPHA:1920 |
Wolfram Syndrome 2 |
|
Neurogenic bladder, Optic atrophy, Optic neuropathy |
OMIM:604928 |
Camptobrachydactyly |
|
Urinary incontinence, Septate vagina |
OMIM:114150 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Hydronephrosis |
ORPHA:2083 |
Prolidase Deficiency |
|
Abnormality of retinal pigmentation, Recurrent cystitis, White forelock, Abnormality of the middl... |
ORPHA:742 |
Holoprosencephaly 3 |
|
Holoprosencephaly, Cyclopia, Hydronephrosis |
OMIM:142945 |
Cockayne Syndrome B |
|
Renal insufficiency, Abnormal pinna morphology, Proteinuria, Abnormal auditory evoked potentials,... |
OMIM:133540 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Optic atrophy, Opto-chiasmatic atrophy, Elevated urine acetoacetic acid level, 3-Methylglutaconic... |
OMIM:620089 |
Leukodystrophy, Hypomyelinating, 12 |
|
Neurogenic bladder, Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:616683 |
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Neurogenic bladder, Optic atrophy, Abnormal autonomic nervous system physiology |
ORPHA:466934 |
Joubert Syndrome 17 |
|
Molar tooth sign on MRI, Abnormal renal morphology, Abnormal retinal morphology |
OMIM:614615 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Abnormality of the kidney, Hydrocephalus, Optic atrophy, Yellow/white le... |
ORPHA:93400 |
Cryoglobulinemic Vasculitis |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:91138 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Hydronephrosis |
OMIM:300048 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Abnormal pinna morphology, Septate vagina, Uterus didelphys, Microtia, Low-se... |
OMIM:617925 |
Tubulinopathy-Associated Dysgyria |
|
Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Ventriculome... |
ORPHA:467166 |
Variant Abeta2M Amyloidosis |
|
Chronic kidney disease, Renal amyloidosis |
ORPHA:314652 |
22Q11.2 Duplication Syndrome |
|
Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis |
ORPHA:1727 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Axonal degeneration/... |
OMIM:601152 |
Distal Deletion 12Q |
|
Ectopic kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Micropenis, Hydronephrosis |
ORPHA:96149 |
Severe Acute Respiratory Syndrome |
|
Acute kidney injury |
ORPHA:140896 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Neurogenic bladder, Optic atrophy, Hypoplastic optic chiasm |
OMIM:617669 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Retinal coloboma, Iris coloboma, Chorioretinal coloboma |
ORPHA:2921 |
Dahlberg-Borer-Newcomer Syndrome |
|
Nephropathy, Renal insufficiency |
ORPHA:1563 |
Autosomal Dominant Cutis Laxa |
|
Bladder diverticulum, Unilateral renal agenesis, Pyelonephritis |
ORPHA:90348 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:254900 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Patent ductus arteriosus, Renal hypoplasia |
OMIM:620005 |
17Q24.2 Microdeletion Syndrome |
|
Vesicoureteral reflux |
ORPHA:529962 |
Cerebral Visual Impairment |
|
Optic disc pallor, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Retinopathy of prematuri... |
ORPHA:447788 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria |
ORPHA:284426 |
Duane Retraction Syndrome |
|
External ear malformation, Sensorineural hearing impairment, Spina bifida occulta, Stenosis of th... |
ORPHA:233 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, Ethylmalonic aciduria, Polycystic k... |
ORPHA:26791 |
Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... |
ORPHA:65681 |
Coffin-Lowry Syndrome |
|
Abnormality of retinal pigmentation, Death in early adulthood, Sensorineural hearing impairment, ... |
ORPHA:192 |
Encephalocraniocutaneous Lipomatosis |
|
Hydrocephalus, Linear hyperpigmentation, Pelvic kidney, Hydronephrosis |
OMIM:613001 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia |
OMIM:617866 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Patent ductus arteriosus, Renal dysplasia, Renal cyst |
OMIM:617260 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hydronephrosis, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract |
ORPHA:2273 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Neonatal de... |
OMIM:308205 |
Osteopetrosis With Renal Tubular Acidosis |
|
Retinal atrophy, Abnormal retinal morphology, Cranial nerve compression, Optic atrophy, Proximal ... |
ORPHA:2785 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyuria, Cryptorchidism, Coloboma, Low-set ears, Renal dysplasia |
OMIM:618183 |
Omodysplasia 2 |
|
Posteriorly rotated ears, Hypospadias, Cryptorchidism, Uterus didelphys, Micropenis, Clitoral hyp... |
OMIM:164745 |
Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia |
ORPHA:35125 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Cerebellar vermis hypoplasia, Retinal dystrophy, Abnormal brainstem morphology, Abnormal pons mor... |
ORPHA:370997 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Proteinuria, Heparan sulfate excretion in urine, Hydrocephal... |
ORPHA:505248 |
Pseudo-Torch Syndrome 3 |
|
Death in infancy, Acute kidney injury, Proteinuria |
OMIM:618886 |
Aicardi-Goutieres Syndrome 9 |
|
Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Chorioretinal atrophy, Stag... |
OMIM:619487 |
Cerebellofaciodental Syndrome |
|
Hypoplasia of the pons, Cerebellar hypoplasia, Low-set ears, Hypoplasia of the midbrain, Ventricu... |
OMIM:616202 |
Hyperostosis Cranialis Interna |
|
Optic atrophy, Facial palsy |
OMIM:144755 |
Cohen Syndrome |
|
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Decreased response to growth ho... |
OMIM:216550 |
Lennox-Gastaut Syndrome |
|
Abnormal brainstem morphology |
ORPHA:2382 |
Cardiofaciocutaneous Syndrome |
|
Generalized hyperpigmentation, Hydrocephalus, Optic atrophy, Multiple lentigines, Multiple cafe-a... |
ORPHA:1340 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease |
OMIM:613819 |
Helix Syndrome |
|
Nephrolithiasis, Renal insufficiency, Hypocalciuria, Polyuria |
OMIM:617671 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Papilledema, Abnormality of retinal pigmentation, Renal lymphocytic tubulitis, Choroidal neovascu... |
ORPHA:91500 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Vesicoureteral reflux, Duplicated collecting system, Micropenis, Bilateral fetal pyelectasis |
OMIM:300868 |
Schinzel-Giedion Syndrome |
|
Abnormality of the stapes, Streak ovary, Hypospadias, Aganglionic megacolon, Nephroblastoma, Abno... |
ORPHA:798 |
Fraser Syndrome 1 |
|
Encephalocele, Abnormal pinna morphology, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, ... |
OMIM:219000 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Posteriorly rotated ears, Congenital sensorineural hearing impairment, Coloboma, Iris transillumi... |
OMIM:617306 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Micropenis, Hypospadias, Hydronephrosis |
OMIM:616897 |
46,Xy Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... |
ORPHA:325345 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Renal cyst |
OMIM:617478 |
Mucopolysaccharidosis Type 3 |
|
Mixed hearing impairment, Thickened helices, Abnormality of the middle ear ossicles, Heparan sulf... |
ORPHA:581 |
Rubinstein-Taybi Syndrome 1 |
|
Hypospadias, Hearing impairment, Spina bifida, Bilateral cryptorchidism, Cryptorchidism, Prematur... |
OMIM:180849 |
Monosomy 22Q13.3 |
|
Vesicoureteral reflux, Recurrent pyelonephritis, Renal dysplasia, Hydronephrosis |
ORPHA:48652 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... |
ORPHA:99880 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Hypospadias, Dysplastic corpus callosum, Cryptorchidism, Abnormality of the outer e... |
OMIM:618820 |
Orofaciodigital Syndrome Type 14 |
|
Low-set, posteriorly rotated ears, Dilated fourth ventricle, Bilateral cryptorchidism, Epispadias... |
ORPHA:434179 |
Cardiofaciocutaneous Syndrome 1 |
|
Peripheral axonal neuropathy, Hydrocephalus, Optic nerve dysplasia, Multiple lentigines, Hydronep... |
OMIM:115150 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Optic atrophy, Pigmentary retinopathy |
OMIM:617282 |
Neurocardiofaciodigital Syndrome |
|
Vesicoureteral reflux |
OMIM:619869 |
Cartilage-Hair Hypoplasia |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Aganglionic megacolon, Sp... |
ORPHA:175 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Pigmentary retinopathy, Neurogenic bladder, Rod-cone dystrophy, Optic atrophy |
ORPHA:96180 |
Degcags Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Bilateral renal dysplasia, Abnormal renal medull... |
OMIM:619488 |
Estrogen Resistance |
|
Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries |
OMIM:615363 |
Amish Lethal Microcephaly |
|
Organic aciduria, Optic atrophy, Spina bifida |
ORPHA:99742 |
Aica-Ribosuria Due To Atic Deficiency |
|
Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Optic atrophy |
OMIM:608688 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Vesicoureteral reflux, Micropenis |
OMIM:617330 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechogenic kidneys |
OMIM:613845 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Renal insufficiency |
ORPHA:2165 |
Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... |
ORPHA:143 |
Juvenile Nephropathic Cystinosis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... |
ORPHA:411634 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Death in childhood, Renal insufficiency, Mild proteinuria |
OMIM:619147 |
Mosaic Trisomy 1 |
|
Renal cortical cysts, Micropenis, Penile hypospadias, Renal cyst |
ORPHA:1692 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Optic atrophy, Macular hypoplasia, Chorioretinal colo... |
OMIM:615219 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Renal cyst, Micropenis |
OMIM:257300 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Optic atrophy |
ORPHA:504476 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Oliguria, Abnormal renal tubule morphology |
ORPHA:188 |
Zaki Syndrome |
|
Renal agenesis, Hydronephrosis |
OMIM:619648 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Recurrent urinary tract infections, Retinal pigment epithelial mottl... |
OMIM:251260 |
Camptobrachydactyly |
|
Septate vagina |
ORPHA:1319 |
Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
ORPHA:2496 |
Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Multicystic kidney dysplasia, Displacement of the urethral meatus |
ORPHA:1556 |
Xfe Progeroid Syndrome |
|
Renal insufficiency, Proteinuria, Optic atrophy, Death in adolescence, Attenuation of retinal blo... |
OMIM:610965 |
Fixed Drug Eruption |
|
Vaginal mucosal ulceration, Hyperpigmentation of the skin |
ORPHA:293812 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Primary amenorrhea, Pigmentary retinopathy, Increased circulating prolactin co... |
ORPHA:502423 |
9Q21.13 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:531151 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Peripheral axonal neuropathy, Optic atrophy |
ORPHA:496756 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Abnormality of the u... |
ORPHA:93552 |
Combined Oxidative Phosphorylation Deficiency 7 |
|
Facial diplegia, Facial paralysis, Optic atrophy |
OMIM:613559 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopathy, Rod-cone dystrophy |
OMIM:212065 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Aplasia/Hypoplasia of the optic nerve, Retinal dystrophy, Macular coloboma |
ORPHA:423479 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Retinal detachment, Proteinuria, Remnants of the hyaloid vascular sy... |
OMIM:609049 |
Apert Syndrome |
|
Cryptorchidism, Hydrocephalus, Chiari type I malformation, Hydronephrosis, Cerebellar hypoplasia,... |
OMIM:101200 |
Fuchs Heterochromic Iridocyclitis |
|
Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Chor... |
ORPHA:263479 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus, Increased circulating gonadotropin level, Cupped ear |
OMIM:110100 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Abnormal substantia nigra morphology, Abnormal midbrai... |
ORPHA:79139 |
Arteriosclerosis, Severe Juvenile |
|
Central retinal vessel vascular tortuosity, Chronic kidney disease, Central fundal arteriolar mic... |
OMIM:208060 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Micropenis, Hydronephrosis |
ORPHA:364028 |
Meningococcal Meningitis |
|
Papilledema, Renal insufficiency |
ORPHA:33475 |
Microscopic Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Abnormal retinal vascular morphology, Oliguria, Hematuria |
ORPHA:727 |
Usher Syndrome |
|
Abnormality of retinal pigmentation, Abnormal vestibular function, Sensorineural hearing impairme... |
ORPHA:886 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Pigmentary retinopathy, Myoglobinuria |
OMIM:609015 |
Acrocephalopolydactylous Dysplasia |
|
Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Roberts-Sc Phocomelia Syndrome |
|
Abnormal pinna morphology, Posteriorly rotated ears, Hypospadias, Enlarged labia minora, Cryptorc... |
OMIM:268300 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Hydronephrosis |
ORPHA:488613 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Breast hypoplasia, Hypopla... |
ORPHA:785 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Patent ductus arteriosus, Microscopic hematuria |
ORPHA:86818 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Pigmentary retinopathy, Hypogonadism, Cholelithiasis |
ORPHA:79095 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Neurogenic bladder, Optic atrophy, Increased cup-to-disc ratio |
ORPHA:500144 |
Metachromatic Leukodystrophy |
|
Decreased nerve conduction velocity, Urinary incontinence, Optic atrophy, Peripheral demyelination |
OMIM:250100 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Pigmentary ... |
ORPHA:411629 |
Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Optic atrophy, Renal cyst, Polycystic ovaries |
ORPHA:137675 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Optic disc pallor, Optic atrophy, Optic neuropathy |
OMIM:618249 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit... |
OMIM:137940 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Hypospadias, Hydrocephalus, Holoprosencephaly, Iris coloboma |
ORPHA:77298 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypoplasia of penis, Uterus didelphys |
ORPHA:2491 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Hypospadias, Hydrocephalus, Cupped ear, Neurofibroma, Protruding ear, Hematuria, C... |
OMIM:619475 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Myoglobinuria, Acute kidney injury |
ORPHA:57 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
Carey-Fineman-Ziter Syndrome |
|
Hydronephrosis, Glandular hypospadias, Facial palsy |
ORPHA:1358 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic cysts, Polycystic kidney dysplasia, Renal cyst |
OMIM:610199 |
Ring Chromosome 13 Syndrome |
|
Bifid scrotum, Hypoplasia of the gallbladder, Posteriorly rotated ears, Hypospadias, Abnormal ret... |
ORPHA:96176 |
Autosomal Dominant Keratitis |
|
Aniridia, Coloboma, Hypoplasia of the fovea, Macular hypoplasia |
ORPHA:2334 |
2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Nephroblastoma |
ORPHA:1001 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Renal hypoplasia, Renal cyst, Stillbirth, Polycystic kidney dysplasia, Micropenis |
OMIM:210710 |
Lamellar Ichthyosis |
|
Renal insufficiency |
ORPHA:313 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Microtia, Conductive hearing impairment, Abnormality of the mid... |
ORPHA:861 |
Cystinosis, Nephropathic |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Retinal pigment epithelial mottlin... |
OMIM:219800 |
Night Blindness, Congenital Stationary, Type 1B |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:257270 |
Digeorge Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Patent ductus arteriosus, Hydronephrosis, Ovarian... |
OMIM:188400 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent urinary tract infections, Hypospadias, Fetal pyelectasis, Vesicoureteral reflux, Hydron... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Fetal pyelectasis, Vesicoureteral reflux, Hydron... |
ORPHA:363958 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:85201 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:261197 |
Smith-Lemli-Opitz Syndrome |
|
Hypopigmentation of hair, Hypoplasia of penis, Aganglionic megacolon, Multicystic kidney dysplasi... |
ORPHA:818 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Enuresis, Neural tube defect, Chiari malformati... |
ORPHA:268810 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Facial palsy, Abnormal brain... |
ORPHA:68 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic neuropathy |
ORPHA:101076 |
Hypocomplementemic Urticarial Vasculitis |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:36412 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Optic atrophy, Facial palsy |
OMIM:218400 |
Tarp Syndrome |
|
Optic atrophy, Hydronephrosis, Horseshoe kidney |
ORPHA:2886 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Precocious puberty, Coloboma, Hypospadias |
OMIM:615877 |
Acrorenal-Mandibular Syndrome |
|
Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia |
OMIM:200980 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Stage 1 chronic kidney disease |
OMIM:618821 |
Igg4-Related Aortitis |
|
Hydronephrosis |
ORPHA:449400 |
Sickle Cell Disease |
|
Hematuria, Renal insufficiency, Retinopathy |
OMIM:603903 |
Diamond-Blackfan Anemia 1 |
|
Renal hypoplasia |
OMIM:105650 |
Renpenning Syndrome 1 |
|
Hypospadias, Renal hypoplasia, Phimosis |
OMIM:309500 |
Juvenile Sialidosis Type 2 |
|
Cherry red spot of the macula, Optic atrophy, Abnormality of the kidney |
ORPHA:93399 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Nephrotic syndrome, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Membranou... |
OMIM:615559 |
Primary Fanconi Renotubular Syndrome |
|
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... |
ORPHA:3337 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Sensorineural hearing impairment... |
ORPHA:353281 |
Chime Syndrome |
|
Hydronephrosis, Retinal coloboma, Abnormality of the kidney |
ORPHA:3474 |
Lowry-Wood Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1824 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Vesicoureteral reflux, Hypospadias, Horseshoe kidney |
ORPHA:444077 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Bilateral renal dysplasia, Unilateral renal agenesis, Optic atrophy, Hors... |
ORPHA:500150 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Focal ... |
ORPHA:567546 |
Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Otosclerosis, Papilledema, Abnormality of retinal pigmentation, Decr... |
ORPHA:580 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Otosclerosis, Papilledema, Abnormality of retinal pigmentation, Heparan sulfate excretion in urin... |
ORPHA:217085 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ... |
ORPHA:488627 |
Boutonneuse Fever |
|
Renal insufficiency |
ORPHA:83313 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Hemolytic-uremic syndrome, Renal insufficiency, Hypospadias, Hydronephrosis |
OMIM:611209 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Multiple renal cysts, Enlarged kidney |
ORPHA:464329 |
Chronic Mucocutaneous Candidiasis |
|
Hematuria, Dyspareunia, Recurrent urinary tract infections, Abnormal vagina morphology |
ORPHA:1334 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Otosclerosis, Papilledema, Abnormality of retinal pigmentation, Heparan sulfate excretion in urin... |
ORPHA:217093 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Multiple glomerular cysts, Segmental peripheral demyelination/remyelination, Optic atrophy, Lacti... |
ORPHA:255210 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis |
ORPHA:93271 |
Osteopetrosis, Autosomal Recessive 2 |
|
Cranial nerve compression, Facial paralysis, Optic atrophy, Hydrocephalus |
OMIM:259710 |
Alveolar Echinococcosis |
|
Pancreatic cysts, Abnormal bladder morphology, Hepatic cysts, Renal cyst |
ORPHA:284 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulati... |
OMIM:609441 |
Simple Cryoglobulinemia |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality of the ki... |
ORPHA:91139 |
Intellectual Disability, Buenos-Aires Type |
|
Hydronephrosis |
ORPHA:3079 |
Williams-Beuren Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Retinal arteriolar tortuosity, Abnormal ... |
OMIM:194050 |
Norrie Disease |
|
Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A... |
ORPHA:649 |
Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Oligosacchariduria |
ORPHA:309288 |
Schimke Immunoosseous Dysplasia |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclero... |
OMIM:242900 |
Bardet-Biedl Syndrome 20 |
|
Papilledema, Proteinuria, Retinal vascular tortuosity, Micropenis, Rod-cone dystrophy |
OMIM:619471 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Fused labia majora, Bifid scrotum, Ambiguous genitalia, Small scrotum, Hypospadias, Cryptorchidis... |
OMIM:201750 |
Autosomal Recessive Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Renal insufficiency, Pancreatic cysts, Oliguria, Stage 5 chro... |
ORPHA:731 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, D... |
ORPHA:466768 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Hydronephrosis |
OMIM:619179 |
Early Infantile Epileptic Encephalopathy |
|
Micropenis, Renal dysplasia, Ureterocele |
ORPHA:1934 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Ureteral hypoplasia, Abnormal renal artery morphology, Hydronephrosis,... |
ORPHA:79328 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Abnormality of cartilage of external ear, Coloboma, Cupped ear, Low-set ears |
ORPHA:2399 |
Castleman Disease |
|
Hematuria, Renal insufficiency, Ureteral obstruction |
ORPHA:160 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Optic disc pallor, Hydrocephalus, Nasofrontal encephalocele |
OMIM:614195 |
Aceruloplasminemia |
|
Abnormality of retinal pigmentation, Abnormal pancreas morphology, Macular degeneration, Abnormal... |
ORPHA:48818 |
Williams Syndrome |
|
Hypoplasia of penis, Abnormal tubulointerstitial morphology, Nephrocalcinosis, Vesicoureteral ref... |
ORPHA:904 |
Lacrimoauriculodentodigital Syndrome |
|
Vesicoureteral reflux, Patent ductus arteriosus, Renal hypoplasia, Hydronephrosis |
ORPHA:2363 |
Fabry Disease |
|
Urinary mulberry cells, Renal insufficiency, Proteinuria, Lipiduria |
OMIM:301500 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pigmentary retinopathy, Hypopituitarism |
OMIM:600462 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Optic disc pallor, Ketonuria, Lacticaciduria |
OMIM:619167 |
Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia |
ORPHA:3404 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Hydronephrosis |
OMIM:620327 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas... |
ORPHA:2526 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Optic disc pallor, Neurogenic bladder |
OMIM:618527 |
Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Hypospadias, Ureteral obstruction, Myelomeningocele, Hydrocephalus, Hydronephrosis |
ORPHA:90652 |
Microgastria-Limb Reduction Defect Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Horseshoe kidney, Crossed... |
ORPHA:2538 |
Scrub Typhus |
|
Renal insufficiency |
ORPHA:83317 |
Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Hematuria, Retinopathy, Hydr... |
ORPHA:900 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Iron accumulation in substantia ni... |
ORPHA:157850 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Hydronephrosis |
OMIM:616449 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Hydronephrosis |
ORPHA:1780 |
Spondylocarpotarsal Synostosis Syndrome |
|
Abnormality of retinal pigmentation, Renal cyst |
OMIM:272460 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Tubulointerstitial nephritis, Renal insufficiency, Nephrotic syndrome |
ORPHA:139402 |
Autosomal Dominant Hypocalcemia |
|
Optic atrophy, Hypercalciuria, Nephrocalcinosis, Irregular hyperpigmentation, Hypermagnesiuria |
ORPHA:428 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Hypospadias, Optic atrophy, Renal hypoplasia, Vesicoureteral reflux, Micropenis |
OMIM:309580 |
Blepharocheilodontic Syndrome 1 |
|
Neural tube defect |
OMIM:119580 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy |
ORPHA:485421 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Retinal detachment, Hydrocephalus, Optic atrophy, Holoprosencephaly, Retinal dyspl... |
OMIM:253800 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Aganglionic megacolon, Hydronephrosis |
ORPHA:247262 |
Esophageal Atresia |
|
Abnormal external genitalia, Renal agenesis, Abnormality of the ear, Coloboma, Abnormality of the... |
ORPHA:1199 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Grade III vesicoureteral r... |
OMIM:619522 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma |
OMIM:612868 |
Acute Intermittent Porphyria |
|
Dark urine, Renal insufficiency, Dysuria, Urinary incontinence, Porphyrinuria, Increased urinary ... |
ORPHA:79276 |
Dysosteosclerosis |
|
Optic atrophy, Abnormal cranial nerve morphology |
ORPHA:1782 |
Pseudo-Torch Syndrome 1 |
|
Renal insufficiency, Patent ductus arteriosus |
OMIM:251290 |
Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Oliguria |
ORPHA:220393 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Congenital stationary night blindness, Abnormal optic disc morphology, Micropenis |
ORPHA:293967 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Duplicated collecting system, Retinal coloboma, Chorioretinal coloboma, Ureteropelvic junction ob... |
OMIM:280000 |
Galloway-Mowat Syndrome 9 |
|
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:619603 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Decreased sensory nerve conduction velocity, Optic atrophy, Onion bulb formation, Optic neuropathy |
ORPHA:320375 |
Familial Dysautonomia |
|
Glomerulopathy, Orthostatic hypotension, Renal insufficiency, Abnormality of the kidney, Optic at... |
ORPHA:1764 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Pigmentary retinopathy, Myoglobinuria, Dicarboxylic aciduria |
ORPHA:71212 |
Isolated Sedoheptulokinase Deficiency |
|
Renal insufficiency, Abnormal renal tubule morphology |
ORPHA:440713 |
Sympathetic Ophthalmia |
|
Retinal detachment, Papilledema, Vitreous floaters, Vitritis, Retinal hemorrhage, Macular edema, ... |
ORPHA:79098 |
Myopathy, Mitochondrial, And Ataxia |
|
Pigmentary retinopathy, Hearing impairment |
OMIM:617675 |
Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Abnormality of the kidney, Enlarged polycystic ... |
ORPHA:201 |
Familial Multiple Lipomatosis |
|
Coloboma, Chorioretinitis |
ORPHA:199276 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Retinal atrophy, Hydrocephalus, Optic atrophy, Coloboma, Hypoplasia of the retina, Retinal dyspla... |
OMIM:253280 |
Cranioectodermal Dysplasia 4 |
|
Rod-cone dystrophy, Stage 5 chronic kidney disease |
OMIM:614378 |
Legionnaires Disease |
|
Hematuria, Renal insufficiency, Proteinuria |
ORPHA:549 |
Relapsing Fever |
|
Hematuria, Abnormality of the urinary system, Acute kidney injury |
ORPHA:91547 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Hypospadias, Ureterocele |
OMIM:616734 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Hydronephrosis |
ORPHA:541423 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Cerebellar vermis hypoplasia, Urinary incontinence, Uplifted earlobe, Chiari type ... |
ORPHA:261537 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Urinary urgency, Micropenis, Pelvic kidney, Unilateral renal agenesis |
OMIM:619503 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Hydronephrosis |
ORPHA:35173 |
Calciphylaxis |
|
Stage 5 chronic kidney disease |
ORPHA:280062 |
Okamoto Syndrome |
|
Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Urinary incontinence, Hydronephr... |
ORPHA:2729 |
Ramon Syndrome |
|
Optic disc pallor, Pigmentary retinopathy, Enlarged labia minora, Hearing impairment |
OMIM:266270 |
Hermansky-Pudlak Syndrome 1 |
|
Renal insufficiency, Ocular albinism |
OMIM:203300 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Tubulointerstitial nephritis |
ORPHA:183 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Unilateral renal hypoplasia |
OMIM:619950 |
D-Bifunctional Protein Deficiency |
|
Renal cyst |
OMIM:261515 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ... |
ORPHA:71505 |
Friedreich Ataxia |
|
Decreased motor nerve conduction velocity, Urinary bladder sphincter dysfunction, Optic atrophy, ... |
ORPHA:95 |
Anterior Segment Dysgenesis 8 |
|
Iris transillumination defect, Optic nerve dysplasia |
OMIM:617319 |
Congenital Tracheal Stenosis |
|
Abnormality of the ureter, Abnormality of the kidney |
ORPHA:141127 |
Snakebite Envenomation |
|
Acute kidney injury |
ORPHA:449285 |
Al Amyloidosis |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amyloid deposits,... |
ORPHA:85443 |
Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Cervical s... |
ORPHA:573278 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Hydronephrosis |
OMIM:617093 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Urinary incontinence, Uplifted earlobe, Vesicoureteral reflux, Webbed penis, Micro... |
ORPHA:261552 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Micropenis, Hydronephrosis |
OMIM:235255 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Micropenis, Hydronephrosis |
OMIM:617798 |
Lowry-Wood Syndrome |
|
Pigmentary retinopathy |
OMIM:226960 |
Hajdu-Cheney Syndrome |
|
Patent ductus arteriosus, Hypospadias, Polycystic kidney dysplasia, Renal cyst |
OMIM:102500 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Optic atrophy, Nephrotic syndrome,... |
OMIM:251300 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Urinary incontinence, Uplifted earlobe, Vesicoureteral reflux, Conductive hearing ... |
ORPHA:2152 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra... |
ORPHA:2614 |
Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Hydronephrosis, Horseshoe kidney |
OMIM:272950 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Urinary incontinence |
ORPHA:309256 |
Jacobsen Syndrome |
|
Hypospadias, Hydrocephalus, Optic atrophy, Macular hypoplasia, Holoprosencephaly, Chorioretinal c... |
OMIM:147791 |
Nail-Patella Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome |
OMIM:161200 |
Tyrosinemia, Type I |
|
Renal insufficiency, Nephrocalcinosis, Renal Fanconi syndrome, Glomerular sclerosis, Enlarged kid... |
OMIM:276700 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
3-Methylglutaconic aciduria, Optic atrophy |
OMIM:619259 |
Wolcott-Rallison Syndrome |
|
Renal insufficiency, Chronic kidney disease |
ORPHA:1667 |
Bartter Syndrome Type 4 |
|
Renal salt wasting, Increased urinary potassium, Impaired renal concentrating ability, Chronic ki... |
ORPHA:89938 |
Hermansky-Pudlak Syndrome 8 |
|
Hypoplasia of the fovea, Optic disc pallor, Albinism, Silver-gray hair, Ocular albinism, Blue iri... |
OMIM:614077 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Melanocytic nevus, Generalized ... |
ORPHA:1969 |
Neu-Laxova Syndrome 1 |
|
Renal agenesis, Spina bifida, Bifid uterus, Cryptorchidism, Stillbirth, Short umbilical cord, Sma... |
OMIM:256520 |
Al-Gazali Syndrome |
|
Hydronephrosis |
OMIM:609465 |
Cholera |
|
Decreased urine output, Abnormality of renal excretion, Miscarriage, Acute kidney injury |
ORPHA:173 |
Uremic Pruritus |
|
Chronic kidney disease, Stage 5 chronic kidney disease |
ORPHA:94059 |
Toxic Epidermal Necrolysis |
|
Abnormality of the urethra, Renal insufficiency, Abnormal vagina morphology, Dysuria |
ORPHA:537 |
Hydatidiform Mole |
|
Miscarriage, Enlarged uterus |
ORPHA:99927 |
Cornelia De Lange Syndrome |
|
Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Vesicoureter... |
ORPHA:199 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Micropenis, Renal agenesis, Hypospadias, Hydronephrosis |
OMIM:301040 |
Cousin Syndrome |
|
Hydranencephaly, Hydrocephalus, Hydronephrosis |
OMIM:260660 |
8P Inverted Duplication/Deletion Syndrome |
|
Micropenis, Abnormality of the urinary system, Hydronephrosis |
ORPHA:96092 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Neurogenic bladder, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus trac... |
OMIM:600145 |
Porphyria Variegata |
|
Neurogenic bladder, Chronic kidney disease, Porphyrinuria, Increased urinary porphobilinogen, Ele... |
ORPHA:79473 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Optic atrophy, Urinary incontinence |
ORPHA:309263 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Optic atrophy, Abnormal autonomic nervous system physiology, Motor axona... |
OMIM:231550 |
Ovarian Fibrothecoma |
|
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology |
ORPHA:314478 |
Classic Homocystinuria |
|
Retinal detachment, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:394 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hydrometrocolpos, Vaginal atresia, Low-set ears, Horseshoe kidney |
OMIM:617088 |
Pearson Syndrome |
|
Renal insufficiency, Proteinuria, Lacticaciduria, Renal cyst, Pigmentary retinopathy, Glycosuria,... |
ORPHA:699 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Nephrolithiasis, Abno... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Nephrolithiasis, Abno... |
ORPHA:353277 |
Trisomy 8P |
|
Fetal pyelectasis, Hydrocephalus, Nephrocalcinosis, Micropenis, Heterochromia iridis, Hydronephrosis |
ORPHA:264450 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Micropenis, Retinal dystrophy, Polycystic kidney dysplasia |
OMIM:263520 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury |
OMIM:235400 |
Giant Cell Arteritis |
|
Hematuria, Renal insufficiency, Optic atrophy |
ORPHA:397 |
Wilson Disease |
|
Hypoparathyroidism, Hyperphosphaturia, Proteinuria, Decreased nerve conduction velocity, Nephroli... |
OMIM:277900 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Vesicoureteral reflux, Nephrolithiasis, Hydronephrosis |
ORPHA:438213 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperpigmentation of the skin, Urinary incontinence, Optic atrophy, Pigmentary retinopathy, Retin... |
OMIM:234200 |
Waldenström Macroglobulinemia |
|
Abnormal retinal vascular morphology, Renal insufficiency, Retinal hemorrhage |
ORPHA:33226 |
Congenital Alveolar Capillary Dysplasia |
|
Aganglionic megacolon, Hydronephrosis |
ORPHA:210122 |
Cerebrocostomandibular Syndrome |
|
Patent ductus arteriosus, Horseshoe kidney, Renal cyst, Ectopic kidney |
OMIM:117650 |
Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena... |
ORPHA:2044 |
Martin-Probst Syndrome |
|
Renal insufficiency, Micropenis, Chordee, Proteinuria |
OMIM:300519 |
Immunoglobulin A Vasculitis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Optic atrophy, Hematuria |
ORPHA:761 |
Biotinidase Deficiency |
|
Myelopathy, Organic aciduria, Optic atrophy, Optic neuropathy |
ORPHA:79241 |
Lead Poisoning |
|
Renal tubular dysfunction, Tubulointerstitial nephritis, Chronic kidney disease, Miscarriage |
ORPHA:330015 |
Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:1393 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Neurogenic bladder, Hydronephrosis |
OMIM:608779 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Hydronephrosis, Renal dysplasia |
OMIM:300968 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Methylmalonic aciduria |
OMIM:251000 |
Phace Association |
|
Increased retinal vascularity, Optic atrophy, Optic nerve hypoplasia, Horner syndrome |
OMIM:606519 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Retinopathy, Numerous pigmented freckles, Optic atrophy, Hydrocephalus |
ORPHA:220295 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Renal tubular epithelial necrosis, Renal tubular dysfunction, Hematuria, Dec... |
ORPHA:31826 |
Floating-Harbor Syndrome |
|
Posteriorly rotated ears, Hypospadias, Cryptorchidism, Glandular hypospadias, Varicocele, Nephroc... |
OMIM:136140 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol... |
ORPHA:572333 |
Isolated Complex I Deficiency |
|
Optic disc pallor, Proximal tubulopathy, Optic neuropathy |
ORPHA:2609 |
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature |
|
Optic atrophy |
OMIM:609037 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Hydronephrosis |
OMIM:302960 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Enuresis, Renal Fanconi syndrome, Proximal tubulopathy, Organic a... |
OMIM:619743 |
Gabriele-De Vries Syndrome |
|
Ureteropelvic junction obstruction, Hydronephrosis |
OMIM:617557 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Spina bifida occulta, Hydronephrosis |
OMIM:257920 |
46,Xx Sex Reversal 1 |
|
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... |
OMIM:400045 |
Systemic Sclerosis |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Glomerulonephritis, Chronic kidney d... |
ORPHA:90291 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
D-2-hydroxyglutaric aciduria, Unilateral renal agenesis |
ORPHA:99646 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Decreased urine output |
ORPHA:542323 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Hydronephrosis, Dysuria |
ORPHA:101000 |
C Syndrome |
|
Patent ductus arteriosus, Renal cortical cysts |
OMIM:211750 |
Dubowitz Syndrome |
|
Hypospadias, Hydrocephalus, Abnormality of skin pigmentation, Spina bifida occulta, Hydronephrosis |
ORPHA:235 |
Caroli Disease |
|
Polycystic kidney dysplasia |
ORPHA:53035 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Optic nerve hypoplasia, Renal cyst |
ORPHA:495875 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Abnormal midbrain morphology, Sensorineural hearing impairment, Enuresis, Abnormal autonomic nerv... |
ORPHA:293987 |
Tetrasomy 9P |
|
Renal dysplasia, Recurrent urinary tract infections, Abnormal chorioretinal morphology, Hydroceph... |
ORPHA:3310 |
Wolfram Syndrome |
|
Recurrent urinary tract infections, Dysuria, Optic atrophy, Abnormality of the urinary system, Ab... |
ORPHA:3463 |
Schwartz-Jampel Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of the ureter, Nephrolithiasis, Abnormality of the... |
ORPHA:800 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Male urethral meatus stenosis, Hydronephrosis, Hypospadias |
ORPHA:464738 |
Pyomyositis |
|
Renal insufficiency |
ORPHA:764 |
Atypical Werner Syndrome |
|
Abnormality of retinal pigmentation, Renal neoplasm, Premature ovarian insufficiency, Patchy hypo... |
ORPHA:79474 |
Semilobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Hydrocephalus, Sensorineural hearing impai... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Hydrocephalus, Sensorineural hearing impai... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Hydrocephalus, Sensorineural hearing impai... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Hydrocephalus, Sensorineural hearing impai... |
ORPHA:93924 |
Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Decreased glomer... |
OMIM:232240 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma |
OMIM:616722 |
Biotinidase Deficiency |
|
Organic aciduria, Optic atrophy |
OMIM:253260 |
Congenital Disorder Of Glycosylation, Type It |
|
Hydronephrosis |
OMIM:614921 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal optic disc morphology, Optic atrophy |
ORPHA:363417 |
Avian Influenza |
|
Acute kidney injury, Miscarriage |
ORPHA:454836 |
Chédiak-Higashi Syndrome |
|
Cerebellar atrophy, Abnormality of retinal pigmentation, Hypopigmentation of hair, Decreased nerv... |
ORPHA:167 |
Hereditary Fructose Intolerance |
|
Renal insufficiency, Chronic kidney disease |
ORPHA:469 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Nephropathy |
ORPHA:1018 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Chronic kidney disease, Retinal hemorrhage |
ORPHA:25 |
Hyper-Igd Syndrome |
|
Optic disc pallor, Renal angiomyolipoma, Rod-cone dystrophy, Elevated urine mevalonic acid level |
OMIM:260920 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Hydronephrosis |
ORPHA:254528 |
Campomelic Dysplasia |
|
Hydronephrosis |
ORPHA:140 |
Thoracoabdominal Syndrome |
|
Patent ductus arteriosus, Renal agenesis, Hypospadias |
OMIM:313850 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Optic atrophy, Ocular albinism, Rena... |
ORPHA:1606 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Retinal detachment, Nephrotic syndrome, Hydronephrosis |
OMIM:601776 |
Mercury Poisoning |
|
Acute kidney injury |
ORPHA:330021 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Generalized aminoaciduria, Pigmentary ... |
ORPHA:404454 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Inguinal freckling, Renal hypoplasia/aplasia, Schwannoma, Axillary freckling, Abnormal renal morp... |
ORPHA:363700 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hydrocephalus, Micropenis, Hypospadias, Hydronephrosis |
ORPHA:163979 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Stage 5 chronic kidney disease, Lacticaciduria |
OMIM:618250 |
Acro-Renal-Mandibular Syndrome |
|
Low-set, posteriorly rotated ears, Bicornuate uterus, Uterus didelphys, Renal hypoplasia/aplasia |
ORPHA:958 |
Schimke Immuno-Osseous Dysplasia |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
ORPHA:1830 |
Fabry Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Optic atrophy, Hematuria, Nephrotic syndrome, N... |
ORPHA:324 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Optic atrophy |
OMIM:604121 |
Steinfeld Syndrome |
|
Unilateral renal dysplasia, Holoprosencephaly, Retinal coloboma, Iris coloboma |
OMIM:184705 |
Occipital Horn Syndrome |
|
Hydronephrosis, Bladder diverticulum, Orthostatic hypotension, Ureteral obstruction |
OMIM:304150 |
Orofaciodigital Syndrome I |
|
Proteinuria, Pancreatic cysts, Ovarian cyst, Polycystic kidney dysplasia, Hepatic cysts |
OMIM:311200 |
Jacobsen Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Iris coloboma, Spina bifida |
ORPHA:2308 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus, Bifid uterus |
ORPHA:2736 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Urinary incontinence, Optic atrophy, Enuresis nocturna, Pollakisuria, Peripheral demyelination |
ORPHA:171629 |
Generalized Pustular Psoriasis |
|
Renal insufficiency |
ORPHA:247353 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Vesicoureteral reflux |
OMIM:150230 |
Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hydronephrosis |
ORPHA:2750 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Renal insufficiency |
OMIM:226980 |
Oculocerebrorenal Syndrome Of Lowe |
|
Glomerulopathy, Renal insufficiency, Death in infancy, Proteinuria, Chorioretinal dysplasia, Prox... |
ORPHA:534 |
Arboleda-Tham Syndrome |
|
Freckling, Recurrent urinary tract infections, Optic atrophy, Hydronephrosis |
OMIM:616268 |
Mitochondrial Trifunctional Protein Deficiency |
|
Pigmentary retinopathy |
ORPHA:746 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Abnormal vestibular function, Peripheral axonal neuropathy, Retinal pigment epithelial mottling, ... |
OMIM:607459 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Oliguria, Acute tubulointerstiti... |
ORPHA:340 |
Orofaciodigital Syndrome Type 3 |
|
Cherry red spot of the macula, Stage 5 chronic kidney disease |
ORPHA:2752 |
Frontometaphyseal Dysplasia |
|
Hydronephrosis, Urethral stenosis, Spina bifida occulta, Ureteral obstruction |
ORPHA:1826 |
Primary Sjögren Syndrome |
|
Renal insufficiency, Glomerulonephritis, Abnormality of the kidney, Abnormality of the peripheral... |
ORPHA:289390 |
Erdheim-Chester Disease |
|
Hydronephrosis, Renal insufficiency, Dysuria |
ORPHA:35687 |
Acute Generalized Exanthematous Pustulosis |
|
Renal insufficiency |
ORPHA:293173 |
Ileal Neuroendocrine Tumor |
|
Small intestine carcinoid, Hydronephrosis |
ORPHA:100078 |
Caroli Syndrome |
|
Abnormality of the kidney, Polycystic kidney dysplasia |
ORPHA:480520 |
Cranioectodermal Dysplasia 2 |
|
Renal insufficiency, Patent ductus arteriosus, Renal cyst |
OMIM:613610 |
Hermansky-Pudlak Syndrome |
|
Renal insufficiency, Abnormal optic nerve morphology, Ocular albinism |
ORPHA:79430 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Optic atrophy, Urinary incontinence |
ORPHA:314404 |
Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat... |
ORPHA:790 |
Trisomy 10P |
|
Multiple renal cysts, Abnormality of the kidney |
ORPHA:171929 |
Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Hypospadias, Patent ductus arteriosus, Abnormal localization of kid... |
ORPHA:1596 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Bladder exstrophy, Hypospadias, Optic atrophy, Chorioretinal coloboma |
OMIM:210730 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t... |
OMIM:614748 |
Bacterial Toxic-Shock Syndrome |
|
Glomerulonephritis, Renal insufficiency, Recurrent urinary tract infections |
ORPHA:36234 |
Lujo Hemorrhagic Fever |
|
Renal insufficiency, Microscopic hematuria, Oliguria |
ORPHA:319213 |
Colchicine Poisoning |
|
Renal insufficiency, Oliguria |
ORPHA:31824 |
Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux, Ureteropelvi... |
OMIM:164210 |
Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Optic atrophy, Nephrocalcinosis, Abnormality o... |
ORPHA:79500 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Nephrolithiasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Renal duplication |
OMIM:268310 |
Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Nephroblastoma |
ORPHA:1052 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Coloboma, Posterior synechiae of the anterior chamber |
OMIM:610256 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Neurogenic bladder |
OMIM:616973 |
Multiple Myeloma |
|
Nephropathy, Nephrotic syndrome, Acute kidney injury, Abnormality of the bladder |
ORPHA:29073 |
Johanson-Blizzard Syndrome |
|
Hypospadias, Septate vagina, Urethrovaginal fistula, Cryptorchidism, Sensorineural hearing impair... |
OMIM:243800 |
Abetalipoproteinemia |
|
Abnormality of retinal pigmentation, Rod-cone dystrophy, Hypopigmentation of the fundus |
ORPHA:14 |
Osteopathia Striata With Cranial Sclerosis |
|
Patent ductus arteriosus, Multicystic kidney dysplasia |
OMIM:300373 |
Teebi Hypertelorism Syndrome 1 |
|
Hydrocele testis, Bicornuate uterus, Shawl scrotum |
OMIM:145420 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Renal insufficiency, Anterior pituitary hypoplasia, Aqueductal stenosis, Hydrocephalu... |
OMIM:619534 |
Craniofacioskeletal Syndrome |
|
Hypospadias, Hydronephrosis |
OMIM:300712 |
Kenny-Caffey Syndrome, Type 2 |
|
Retinal calcification, Papilledema |
OMIM:127000 |
Stevens-Johnson Syndrome |
|
Abnormality of the urethra, Renal insufficiency, Dysuria |
ORPHA:36426 |
Femoral-Facial Syndrome |
|
Micropenis, Renal agenesis, Polycystic kidney dysplasia, Abnormal renal collecting system morphology |
OMIM:134780 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:1507 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo... |
OMIM:617729 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Chronic kidney disease, Hemoglobinuria, Renal ... |
ORPHA:447 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hydrocephalus, Optic nerve compression, Optic atrophy |
OMIM:612301 |
Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal cerebell... |
ORPHA:251937 |
Bartsocas-Papas Syndrome 1 |
|
Absent external genitalia, Bilateral cryptorchidism, Ectopic kidney, Cupped ear, Hypoplastic labi... |
OMIM:263650 |
Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Breast hypoplasia, Bic... |
OMIM:181450 |
Spondyloenchondrodysplasia |
|
Hematuria, Chronic kidney disease, Proteinuria |
ORPHA:1855 |
Roberts Syndrome |
|
Long penis, Polycystic kidney dysplasia |
ORPHA:3103 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Abnormal localization of kidney, Holoprosencephaly, Cyclopia, Iris colo... |
ORPHA:3186 |
Serotonin Syndrome |
|
Acute kidney injury |
ORPHA:43116 |
Branchiooculofacial Syndrome |
|
Hypospadias, Facial palsy, Renal agenesis, Renal cyst, Premature graying of hair, White forelock,... |
OMIM:113620 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Hydronephrosis, Multiple bladder diverticula |
OMIM:613177 |
C Syndrome |
|
Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia |
ORPHA:1308 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Recurrent urinary tract infections, Hydronephrosis, Urachus fistula |
OMIM:612541 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Abnormal brainstem morphology, Pollakisuria, Urinary bladder sphincter dysfunction, Abnormal auto... |
ORPHA:93256 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Imperforate hymen, Supernumerary nipple |
OMIM:100300 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Stage 5 chronic kidney disease |
OMIM:608612 |
Robinow Syndrome |
|
Webbed penis, Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:97360 |
Hajdu-Cheney Syndrome |
|
Patent ductus arteriosus, Hypospadias, Multiple renal cysts |
ORPHA:955 |
Melnick-Needles Syndrome |
|
Ureteral stenosis, Hydronephrosis |
OMIM:309350 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology |
ORPHA:88619 |
Acute Adrenal Insufficiency |
|
Decreased urinary potassium, Renal insufficiency, Renal salt wasting |
ORPHA:95409 |
Hellp Syndrome |
|
Hemoglobinuria, Acute kidney injury, Proteinuria |
ORPHA:244242 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Few cafe-au-lait spots, Optic nerve hypoplasia, Hydronephrosis |
OMIM:620330 |
Campomelic Dysplasia |
|
Hypospadias, Spina bifida, Hydrocephalus, Spinal dysraphism, Hydronephrosis |
OMIM:114290 |
Malignant Hyperthermia Of Anesthesia |
|
Myoglobinuria, Acute kidney injury |
ORPHA:423 |
Manitoba Oculotrichoanal Syndrome |
|
Vaginal atresia |
OMIM:248450 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ... |
OMIM:309000 |
Leptospirosis |
|
Papilledema, Cellular urinary casts, Retinal hemorrhage, Chorioretinitis, Optic neuritis, Macular... |
ORPHA:509 |
Sepsis In Premature Infants |
|
Oliguria, Reversible renal failure |
ORPHA:90051 |
Shigellosis |
|
Hemolytic-uremic syndrome, Acute kidney injury, Urethritis |
ORPHA:810 |
Cranioectodermal Dysplasia 1 |
|
Retinal dystrophy, Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney diseas... |
OMIM:218330 |
Kabuki Syndrome 1 |
|
Crossed fused renal ectopia, Hydrocephalus, Micropenis, Ureteropelvic junction obstruction, Cafe-... |
OMIM:147920 |
Familial Cerebral Saccular Aneurysm |
|
Abnormal brainstem morphology |
ORPHA:231160 |
Pineoblastoma |
|
Papilledema, Retinoblastoma |
ORPHA:251909 |
Ogden Syndrome |
|
Global glomerulosclerosis, Patent ductus arteriosus, Polycystic kidney dysplasia, Enlarged kidney |
OMIM:300855 |
Coccidioidomycosis |
|
Abnormal retinal morphology, Renal insufficiency, Abnormality of the kidney, Abnormality of the b... |
ORPHA:228123 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Renal insufficiency, Glomerulonephritis, Chronic kidney disease, Abnormality ... |
ORPHA:79408 |
Behçet Disease |
|
Glomerulopathy, Renal insufficiency, Retrobulbar optic neuritis, Optic neuritis, Retinopathy |
ORPHA:117 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Renal hypoplasia/aplasia, Abnormality of female external genitalia, Vaginal fistula, Persistent c... |
ORPHA:1112 |
Zygomycosis |
|
Retinal arterial occlusion, Retinal detachment, Renal insufficiency, Nephritis |
ORPHA:73263 |
Relapsing Polychondritis |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:728 |
Dyskeratosis Congenita, X-Linked |
|
Hypospadias, Phimosis, Reticulated skin pigmentation, Urethral stenosis, Optic atrophy, Horseshoe... |
OMIM:305000 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Vaginal dryness, Dysuria, Renal tubular epithelial necrosis, Hematuria... |
ORPHA:95455 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Glomerular crescent formation,... |
OMIM:233450 |
Chronic Graft Versus Host Disease |
|
Phimosis, Urinary bladder inflammation, Hematuria, Abnormality of skin pigmentation, Abnormal vag... |
ORPHA:99921 |
Lipodystrophy, Familial Partial, Type 7 |
|
Pigmentary retinopathy, Tinnitus, Polyuria, Low-set ears |
OMIM:606721 |
Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
OMIM:600383 |
Porphyria Cutanea Tarda |
|
Increased urinary porphobilinogen, Stage 5 chronic kidney disease, Porphyrinuria |
ORPHA:101330 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Abnormality of the kidney |
ORPHA:449432 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hemoglobinuria, Anuria, Acute kidney injury |
ORPHA:90038 |
Cocaine Intoxication |
|
Proteinuria, Glomerulonephritis, Hematuria, Tubulointerstitial nephritis, Acute kidney injury |
ORPHA:90068 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hypospadias, Patent ductus arteriosus, Renal cyst, Duplication of renal pelvis, Nephroblastoma, H... |
OMIM:312870 |
Neuroleptic Malignant Syndrome |
|
Myoglobinuria, Acute kidney injury, Proteinuria, Urinary incontinence |
ORPHA:94093 |
Gabriele-De Vries Syndrome |
|
Ureteropelvic junction obstruction, Hydronephrosis |
ORPHA:506358 |
Agel Amyloidosis |
|
Proteinuria, Stage 5 chronic kidney disease |
ORPHA:85448 |
Blau Syndrome |
|
Clear cell renal cell carcinoma, Abnormal retinal vascular morphology, Retrobulbar optic neuritis... |
ORPHA:90340 |
Familial Mediterranean Fever |
|
Nephrotic syndrome, Renal amyloidosis, Stage 5 chronic kidney disease |
OMIM:249100 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus |
ORPHA:1521 |
Infection-Related Hemolytic Uremic Syndrome |
|
Anuria, Oliguria, Acute kidney injury, Nephrotic range proteinuria, Decreased urine output |
ORPHA:544482 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Proteinuria, Nephrolithiasis, Stage 5 chronic kidney disease, Nephrocalcinosis, Enlarged kidney, ... |
ORPHA:79259 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Micropenis, Hydronephrosis |
ORPHA:83617 |
Autoimmune Lymphoproliferative Syndrome |
|
Renal insufficiency, Glomerulonephritis |
ORPHA:3261 |
Listeriosis |
|
Acute kidney injury, Miscarriage, Pyelonephritis |
ORPHA:533 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Micropenis, Hydronephrosis, Renal duplication |
OMIM:180700 |
Genitopatellar Syndrome |
|
Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:606170 |
Microsporidiosis |
|
Prostatitis, Urethritis, Abnormality of the parathyroid gland, Abnormal endometrium morphology, A... |
ORPHA:2552 |
Osteogenesis Imperfecta, Type Vii |
|
Hydronephrosis |
OMIM:610682 |
Primary Sclerosing Cholangitis |
|
Renal insufficiency |
ORPHA:171 |
Otopalatodigital Syndrome, Type Ii |
|
Hydrocephalus, Hypospadias, Hydronephrosis, Spina bifida |
OMIM:304120 |
Lysinuric Protein Intolerance |
|
Aminoaciduria, Oroticaciduria, Stage 5 chronic kidney disease, Hyperlysinuria |
OMIM:222700 |
Yellow Fever |
|
Renal insufficiency, Anuria, Acute kidney injury |
ORPHA:99829 |
Liver Disease, Severe Congenital |
|
Recurrent urinary tract infections, Hypospadias, Aminoaciduria, Alpha-aminobutyric aciduria, Hype... |
OMIM:619991 |
Viss Syndrome |
|
Retinal detachment, Hydronephrosis |
OMIM:619472 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse, Absent earlobe |
OMIM:130050 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hydronephrosis, Cyst of the ductus choledochus, Renal dysplasia, Depigmentation/hyperpigmentation... |
ORPHA:480880 |
African Trypanosomiasis |
|
Papilledema, Renal insufficiency, Miscarriage, Urinary incontinence, Optic neuritis |
ORPHA:3385 |
Sarcoidosis |
|
Renal insufficiency, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Tubulointerstitial nephritis |
ORPHA:797 |
Scorpion Envenomation |
|
Ketonuria, Acute kidney injury, Glycosuria |
ORPHA:466677 |
Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Cryptorchidism, Vertigo, Aplasia/Hypoplasia of the earlobes, Cystocele, Renovascular... |
ORPHA:286 |
Costello Syndrome |
|
Renal insufficiency |
OMIM:218040 |
Marburg Hemorrhagic Fever |
|
Renal insufficiency |
ORPHA:99826 |
Exercise-Induced Malignant Hyperthermia |
|
Acute kidney injury, Oliguria |
ORPHA:466650 |
Acute Liver Failure |
|
Hepatic periportal necrosis, Acute kidney injury, Hepatic necrosis, Hepatocellular necrosis |
ORPHA:90062 |
Classical Ehlers-Danlos Syndrome |
|
Orthostatic hypotension, Cervical insufficiency, Bladder diverticulum, Uterine prolapse, Umbilica... |
ORPHA:287 |
Eisenmenger Syndrome |
|
Renal insufficiency, Patent ductus arteriosus |
ORPHA:97214 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
Pmm2-Cdg |
|
Proteinuria, Nephrotic syndrome, Multiple renal cysts, Photoreceptor layer loss on macular OCT, R... |
ORPHA:79318 |
Alström Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Recurrent urinary tract infections, Recurrent cystiti... |
ORPHA:64 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Chronic kidney disease |
ORPHA:642 |