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Gene: Pax2 MGI:97486

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
paired box 2
Synonyms:
Opdc,  Pax-2

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Pax2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases predicted to be associated to Pax2 by phenotypic similarity.

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