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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 87
Hearing impairment, Enlarged vestibular aqueduct, 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
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, A... ORPHA:2838
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti... OMIM:618013
Ureter, Cancer Of
Neoplasm of the ureter OMIM:191600
Vesicoureteral Reflux 8
Recurrent urinary tract infections, Vesicoureteral reflux, Duplicated collecting system OMIM:615963
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment, Abnormal cochlea morphology OMIM:618778
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Congenital Primary Megaureter
Congenital megaureter, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis... ORPHA:617
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone... OMIM:143400
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... 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
Hydronephrosis, Hydroureter OMIM:264140
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Vesicoureteral Reflux, X-Linked
Vesicoureteral reflux OMIM:314550
Vesicoureteral Reflux 1
Vesicoureteral reflux OMIM:193000
Deafness, Autosomal Dominant 44
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:607453
Deafness, Autosomal Dominant 86
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:620280
Vesicoureteral Reflux 3
Hydroureter, Recurrent urinary tract infections, Grade III vesicoureteral reflux, Ureteropelvic j... OMIM:613674
Nephronophthisis 7
Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis OMIM:611498
Deafness-Oligodontia Syndrome
Sensorineural hearing impairment, Vertigo, Abnormality of the inner ear ORPHA:3230
Humero-Radio-Ulnar Synostosis
Abnormality of the upper urinary tract, Abnormality of the ureter ORPHA:3266
Retinitis Pigmentosa 42
Cystoid macular edema, Rod-cone dystrophy, Perifoveal ring of hyperautofluorescence, Peripapillar... OMIM:612943
Deafness, Autosomal Dominant 77
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus OMIM:618915
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ... ORPHA:93101
Deafness, Autosomal Dominant 80
Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con... OMIM:619274
Urofacial Syndrome 1
Hydroureter, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Hydronephrosis, ... 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 cyst, Rod-cone dystrophy, Retinal dystrophy, Renal insufficiency OMIM:615987
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral agenesis, Ureteral dysgenesis OMIM:274265
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Renal Coloboma Syndrome
Optic nerve dysplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Retinal coloboma, Ren... ORPHA:1475
Opticocochleodentate Degeneration
Hearing impairment, Optic atrophy, Cochlear degeneration 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
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:612712
Ureterocele
Ureterocele, Duplicated collecting system OMIM:191650
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru... OMIM:610805
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia OMIM:236110
Bardet-Biedl Syndrome 18
Stage 5 chronic kidney disease, Rod-cone dystrophy, Retinal dystrophy, Renal insufficiency OMIM:615995
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis OMIM:249210
Urofacial Syndrome 2
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Hydronephro... OMIM:615112
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease, Rod-cone dystrophy OMIM:610189
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Hanac Syndrome
Hematuria, Retinal vascular tortuosity, Multiple renal cysts, Renal insufficiency ORPHA:73229
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Hydronephrosis, Renal insuff... ORPHA:84085
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal tubular ... OMIM:613092
Bor Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Stenosis of the external auditory canal, Abnormal ... ORPHA:107
Branchiootorenal Syndrome 2
Renal dysplasia, Renal insufficiency OMIM:610896
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Hydroureter, Nephrolithiasis OMIM:617219
Oligomeganephronia
Abnormal nephron morphology, Decreased glomerular filtration rate, Unilateral renal agenesis, Abn... ORPHA:2260
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Renal hyp... OMIM:611555
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2487
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Mild proteinuria, Glomerular subepithelial immune-complex... OMIM:614377
Nephronophthisis
Abnormality of retinal pigmentation, Renal insufficiency ORPHA:655
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Deafness, Autosomal Dominant 9
Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment, Vertigo... OMIM:601369
Optic Atrophy 2
Optic atrophy OMIM:311050
Bardet-Biedl Syndrome 14
Rod-cone dystrophy, Renal insufficiency OMIM:615991
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Glomerulopathy With Fibronectin Deposits 2
Glomerular fibronectin deposits, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Glomerul... OMIM:601894
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
2p15-16.1 microdeletion syndrome
Hydronephrosis, Optic disc hypoplasia DECIPHER:70
Bardet-Biedl Syndrome 16
Renal insufficiency, Renal cyst, Renal agenesis, Renal dysplasia, Retinal degeneration, Stage 5 c... OMIM:615993
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter, Optic disc pallor OMIM:618240
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Nephronophthisis 14
Polycystic kidney dysplasia, Retinal degeneration, Nephronophthisis OMIM:614844
Branchiootic Syndrome 1
Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf... OMIM:602588
Leber Congenital Amaurosis 19
Retinal degeneration, Attenuation of retinal blood vessels, Optic disc pallor OMIM:618513
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Hydronephrosis, Hydroureter, Abnormal autonomic nervous system physiology OMIM:598500
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hypospadias, Recurrent urinary tract infections, Neurogenic bladder, Vesicoureteral reflux, Hydro... OMIM:191800
Glomerulopathy With Fibronectin Deposits 1
Glomerular fibronectin deposits, Glomerulopathy, Nephropathy, Nephrotic syndrome, Microscopic hem... OMIM:137950
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Abnormality of the bladder, Hydroureter, Abnormality of the upper urinary tract, Hypoplasia of penis ORPHA:2547
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 2
Optic atrophy OMIM:620569
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hematuria, Unilateral renal dysplasia, Chronic kidney disease, Aplasia of the vagina, Hypoparathy... OMIM:146255
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Reduced renal corticomedull... OMIM:617610
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig... OMIM:613830
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret... OMIM:607921
Adenine Phosphoribosyltransferase Deficiency
Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Renal insufficiency, 2,8-dihydroxyadenine cry... OMIM:614723
Optic Atrophy 9
Optic atrophy, Optic disc pallor OMIM:616289
Primary Membranoproliferative Glomerulonephritis
Acute kidney injury, Drusen, Glomerular subendothelial electron-dense deposits, Nephrotic syndrom... ORPHA:54370
Lessel-Kubisch Syndrome
Renal hypoplasia, Renal insufficiency OMIM:618681
Retinitis Pigmentosa 57
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:613582
C3 Glomerulopathy 3
Mesangial matrix expansion, Glomerular subendothelial electron-dense deposits, Glomerular C3 depo... OMIM:614809
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Unilateral renal agenesis OMIM:235740
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
Choroideremia
Granular macular appearance, Bone spicule pigmentation of the retina, Chorioretinal degeneration,... OMIM:303100
Atresia Of Urethra
Hydroureter, Recurrent urinary tract infections, Dilatation of the bladder, Vesicoureteral reflux... ORPHA:105
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Abnormal tubulointerstitial morphology, Nephropathy, Chronic kidney disease OMIM:602114
Bardet-Biedl Syndrome 4
Abnormality of the kidney, Retinal degeneration, Rod-cone dystrophy, Renal cyst OMIM:615982
Lower Urinary Tract Obstruction, Congenital
Urinary incontinence, Pollakisuria, Vesicoureteral reflux, Congenital posterior urethral valve, U... OMIM:618612
Caudal Duplication
Renal hypoplasia/aplasia, Ureteral duplication, Abnormal penis morphology ORPHA:1756
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Carnosinuria OMIM:236130
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Ventriculomegaly With Defects Of The Radius And Kidney
Renal agenesis, Ureteral duplication, Horseshoe kidney, Ectopic kidney OMIM:602200
Retinitis Pigmentosa 33
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:610359
Joubert Syndrome 22
Renal hypoplasia, Coloboma, Retinal dysplasia OMIM:615665
Retinitis Pigmentosa 71
Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of hyperautofluorescence... OMIM:616394
Pendred Syndrome
Abnormality of the inner ear, Sensorineural hearing impairment, Vertigo, Enlarged vestibular aque... ORPHA:705
Sorsby Pseudoinflammatory Fundus Dystrophy
Macular dystrophy, Abnormal fundus autofluorescence imaging, Choroidal neovascularization, Chorio... ORPHA:59181
Nephrotic Syndrome, Type 26
Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal s... OMIM:620049
Focal Segmental Glomerulosclerosis 10
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron... OMIM:256020
Pendred Syndrome
Congenital sensorineural hearing impairment, Abnormal vestibular function, Cochlear malformation OMIM:274600
Medullary cystic kidney disease 2
Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Stage 5 chro... OMIM:603860
Joubert Syndrome 15
Nephronophthisis, Retinal dystrophy, Coloboma, Retinopathy, Exencephaly, Ambiguous genitalia, Mic... OMIM:614464
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Gonadal dysgenesis, Neural tube defect, Retinal dysplasia OMIM:615041
Liberfarb Syndrome
Bone spicule pigmentation of the retina, Sensorineural hearing impairment, Retinal degeneration, ... OMIM:618889
Meier-Gorlin Syndrome 8
Nephroptosis, Unilateral renal hypoplasia OMIM:617564
Bardet-Biedl Syndrome 3
Renal hypoplasia, Rod-cone dystrophy, Pigmentary retinopathy OMIM:600151
Joubert Syndrome 16
Nephronophthisis, Encephalocele, Retinal dystrophy, Coloboma, Renal cyst OMIM:614465
Bladder Exstrophy And Epispadias Complex
Epispadias, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Horseshoe kidney OMIM:600057
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis, Patent ductus arteriosus OMIM:618845
Peripheral Cone Dystrophy
Optic atrophy, Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic disc pallor OMIM:609021
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Optic atrophy, Nephrotic syndrome, Retinal arteriolar constriction, Diffuse mesangial sclerosis, ... OMIM:249660
Nephrotic Syndrome, Type 24
Steroid-resistant nephrotic syndrome, Renal cortical hyperechogenicity, Focal segmental glomerulo... OMIM:619263
Deafness, X-Linked 5, With Peripheral Neuropathy
Vertigo, Cochlear nerve hypoplasia, Hearing impairment, Tinnitus, Abnormal speech discrimination,... OMIM:300614
Camos Syndrome
Optic atrophy, Nephrotic syndrome, Renal insufficiency ORPHA:83472
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Central Areolar Choroidal Dystrophy
Full-thickness macular hole, Drusen, Foveal photoreceptor outer segment loss on macular OCT, Abse... ORPHA:75377
Usher Syndrome Type 3
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology ORPHA:231183
Joubert Syndrome 4
Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff... OMIM:609583
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Isolated Epispadias
Epispadias, Urinary incontinence, Anteriorly displaced urethral meatus, Vesicoureteral reflux ORPHA:93928
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy ORPHA:2253
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stag... OMIM:603965
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Ectopic kidney, Unilateral renal agenesis, Renal insufficiency, Horseshoe kidney, Vesicoureteral ... OMIM:617641
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Renal hypoplasia, Patent ductus arteriosus, Unilateral renal agenesis, Chronic kidney disease OMIM:617661
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis ORPHA:2512
Cystinuria
Argininuria, Recurrent urinary tract infections, Nephrolithiasis, Ornithinuria, Hyperlysinuria, R... OMIM:220100
Coloboma Of Macula-Brachydactyly Type B Syndrome
Renal agenesis, Chorioretinal coloboma ORPHA:1471
Papillorenal Syndrome
Morning glory anomaly, Hematuria, Horseshoe kidney, Retinal detachment, Macular degeneration, Cho... OMIM:120330
Retinitis Pigmentosa 95
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of... OMIM:620102
Branchiootorenal Syndrome 1
Renal steatosis, Abnormal renal collecting system morphology, Mixed hearing impairment, Unilatera... OMIM:113650
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Rod-cone dystrophy OMIM:609055
Ochoa Syndrome
Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral re... ORPHA:2704
Ribose 5-Phosphate Isomerase Deficiency
Optic atrophy, Increased level of xylitol in urine, Decreased level of erythritol in urine, Incre... OMIM:608611
Retinitis Pigmentosa 62
Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves... OMIM:614181
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:617871
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni... OMIM:614817
Renal Failure, Progressive, With Hypertension
Microscopic hematuria, Nephritis, Proteinuria, Stage 5 chronic kidney disease, Renal insufficiency OMIM:161900
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua... OMIM:180210
Nephrosialidosis
Nephrotic syndrome, Death in childhood, Nephropathy, Renal insufficiency OMIM:256150
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Woolly Hair Nevus
Enlarged vestibular aqueduct ORPHA:79414
Deafness, X-Linked 2
Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm... OMIM:304400
Chromosome Xq21 Deletion Syndrome
Hearing impairment, Conductive hearing impairment, Progressive sensorineural hearing impairment, ... OMIM:303110
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Patent ductus arteriosus, Stage 5... OMIM:615382
Prune Belly Syndrome
Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,... ORPHA:2970
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Coach Syndrome 3
Nephronophthisis, Renal interstitial inflammation, Renal tubular atrophy, Renal interstitial fibr... OMIM:619113
Nail-Patella-Like Renal Disease
Microscopic hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2613
Usher Syndrome Type 1
Sensorineural hearing impairment, Vestibular hypofunction, Abnormal cochlea morphology ORPHA:231169
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Retinitis Pigmentosa 32
Bone spicule pigmentation of the retina, Photoreceptor layer loss on macular OCT, Pigmentary reti... OMIM:609913
Optic Atrophy 6
Optic atrophy, Retinal degeneration OMIM:258500
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... OMIM:618177
Nephrotic Syndrome, Type 19
Stage 3 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta... OMIM:618178
Nephrotic Syndrome, Type 20
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... OMIM:301028
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:616032
Retinitis Pigmentosa 50
Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Rod-cone dystrophy, Opt... OMIM:613194
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic atrophy, Optic disc pallor OMIM:618511
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... ORPHA:411527
Nephronophthisis 15
Nephronophthisis OMIM:614845
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Macular Dystrophy, Retinal, 2
Granular macular appearance, Macular dystrophy, Perifoveal ring of hyperautofluorescence, Retinal... OMIM:608051
Prune Belly Syndrome
Hydronephrosis, Hydroureter, Congenital posterior urethral valve OMIM:100100
Deafness-Hypogonadism Syndrome
Abnormality of the internal auditory canal, Progressive sensorineural hearing impairment, Abnorma... ORPHA:90646
Senior-Loken Syndrome 4
Polyuria, Stage 5 chronic kidney disease, Nephronophthisis OMIM:606996
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Choroi... ORPHA:97341
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, Renal cortical... OMIM:220150
Bardet-Biedl Syndrome 19
Renal insufficiency, Cone/cone-rod dystrophy, Renal hypoplasia, Hydronephrosis, Rod-cone dystrophy OMIM:615996
Peroxisome Biogenesis Disorder 6A (Zellweger)
Neonatal death, Renal cyst OMIM:614870
Retinitis Pigmentosa 11
Bone spicule pigmentation of the retina, Macular degeneration, Perifoveal ring of hyperautofluore... OMIM:600138
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... ORPHA:179
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria OMIM:614199
Microphthalmia/Coloboma 12
Vesicoureteral reflux, Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretina... OMIM:120200
Nephronophthisis 18
Nephronophthisis, Thickened glomerular basement membrane, Renal tubular atrophy, Stage 5 chronic ... OMIM:615862
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Caudal Regression Syndrome
Ureteral duplication, Ectopic kidney, Vesicoureteral reflux, Abnormality of the ureter, Renal age... ORPHA:3027
Nephronophthisis 9
Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts, Nephronophthisis OMIM:613824
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Proteinuria, Focal segmental glomerulosclerosis, Renal insufficiency OMIM:607832
Retinitis Pigmentosa 63
Rod-cone dystrophy, Optic disc pallor OMIM:614494
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor OMIM:165300
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To
Nonarteritic anterior ischemic optic neuropathy OMIM:258660
Renal Cysts And Diabetes Syndrome
Abnormality of the kidney, Hypospadias, Unilateral renal agenesis, Multiple glomerular cysts, Abn... OMIM:137920
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Hydroureter, Fetal megacystis OMIM:619362
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Hematuria, Nephrolithiasis, Abnormality of retinal pigmentation, Chorioretinal ... ORPHA:2196
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Leydig Cell Hypoplasia
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Breast aplasia, Hypopla... ORPHA:755
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Steroid-resistant nephrot... OMIM:618176
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute... OMIM:277000
Posterior Urethral Valve
Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary tract infections, Enuresis no... ORPHA:93110
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc pallor OMIM:606068
Senior-Loken Syndrome
Stage 5 chronic kidney disease, Nephronophthisis, Chronic kidney disease ORPHA:3156
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephroblastoma, Diffuse mesangial scleros... OMIM:256370
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Chorioretinal coloboma, Abnormal localization of kidney... ORPHA:195
Waardenburg Syndrome, Type 1
Premature graying of hair, Aplasia of the vagina, Heterochromia iridis, Myelomeningocele, Spina b... OMIM:193500
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Aplasia of the vagina, Hydrocephalus, Optic nerve hypoplasia, Aplasia ... ORPHA:457284
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Megacystis, Hydronephrosis, Hydroureter OMIM:619431
Wolfram Syndrome 1
Optic atrophy, Hydroureter, Neurogenic bladder, Hydronephrosis, Pigmentary retinopathy OMIM:222300
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Complement Factor H Deficiency
Thickened glomerular basement membrane, Hematuria, Glomerular subendothelial electron-dense depos... OMIM:609814
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Chorioretinal coloboma ORPHA:2732
Nephronophthisis 4
Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage 5 chronic k... OMIM:606966
Keratoconus Posticus Circumscriptus
Recurrent urinary tract infections, Vesicoureteral reflux OMIM:244600
Retinitis Pigmentosa 26
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor OMIM:608380
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
Nephrotic Syndrome, Type 7
Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr... OMIM:615008
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy OMIM:618572
Retinitis Pigmentosa 38
Rod-cone dystrophy, Peripheral retinal atrophy, Macular atrophy, Optic disc pallor OMIM:613862
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Radial-Renal Syndrome
Ectopic kidney, Unilateral renal agenesis OMIM:179280
Renal Agenesis
Absent vas deferens, Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral rena... ORPHA:411709
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Bresek Syndrome
Aganglionic megacolon, Hydrocephalus, Optic nerve hypoplasia, Vesicoureteral reflux, Hypoplasia o... ORPHA:85284
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Rod-cone dystrophy, Optic disc pallor OMIM:616389
Spastic Paraplegia 43, Autosomal Recessive
Optic atrophy OMIM:615043
Retinitis Pigmentosa 76
Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, C... OMIM:617123
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy OMIM:615658
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Leber Congenital Amaurosis With Early-Onset Deafness
Sensorineural hearing impairment, Retinal degeneration, Retinal pigment epithelial mottling, Peri... OMIM:617879
Knobloch Syndrome
Vesicoureteral reflux, Bifid ureter ORPHA:1571
Usher Syndrome, Type Iiib
Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye maculopathy OMIM:614504
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, Vesicoureteral reflux ORPHA:85285
Nephronophthisis 1
Polyuria, Nephronophthisis, Hyposthenuria, Tubular basement membrane disintegration, Tubulointers... OMIM:256100
Bardet-Biedl Syndrome 12
Hydroureter, Hydronephrosis, Rod-cone dystrophy, Cystic renal dysplasia OMIM:615989
46,Xy Sex Reversal 11
Abnormal internal genitalia, Urogenital sinus anomaly, Aplasia of the uterus, Elevated circulatin... OMIM:273250
Retinitis Pigmentosa 88
Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation... OMIM:618826
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis OMIM:601355
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia... OMIM:174000
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Hydronephrosis, Displacement of ... ORPHA:2973
Chromosome 17Q12 Deletion Syndrome
Protruding ear, Unilateral renal agenesis, Aplasia of the vagina, Recurrent urinary tract infecti... OMIM:614527
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Irvan Syndrome
Optic atrophy, Retinal exudate, Retinal detachment, Vitreous floaters, Tractional retinal detachm... ORPHA:209943
Nephrogenic Diabetes Insipidus
Hydroureter, Hyposthenuria, Enuresis nocturna, Functional abnormality of the bladder, Renal insuf... ORPHA:223
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Bladder Exstrophy
Epispadias, Hypoplasia of penis, Recurrent urinary tract infections, Vesicoureteral reflux, Abnor... ORPHA:93930
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Albumi... OMIM:620536
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Glomerulopathy, Absent vas deferens, Aplasia/Hypoplasia of the pancreas, Hyp... ORPHA:93111
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Sensorineural heari... OMIM:618144
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... OMIM:308990
Bardet-Biedl Syndrome 6
Renal cyst, Rod-cone dystrophy, Hypospadias, Pigmentary retinopathy OMIM:605231
Split-Hand/Foot Malformation 3
Renal hypoplasia OMIM:246560
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the ute... OMIM:158330
Retinitis Pigmentosa 19
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:601718
Primary Hyperoxaluria Type 2
Recurrent urinary tract infections, Hyperoxaluria, Nephrolithiasis, Ureteral obstruction, Nephroc... ORPHA:93599
Noonan Syndrome 9
Hydroureter OMIM:616559
Joubert Syndrome 20
Retinopathy, Renal cyst OMIM:614970
Iga Nephropathy, Susceptibility To, 3
Hematuria, Proteinuria, Mesangial hypercellularity, IgA deposition in the glomerulus, Stage 5 chr... OMIM:616818
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Macular degeneration, Pigmentary retinopathy, Abnormal f... ORPHA:85128
Iga Nephropathy, Susceptibility To, 2
Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease OMIM:613944
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Waardenburg Syndrome, Type 2E
Sensorineural hearing impairment, Dilated vestibule of the inner ear, Abnormal morphology of the ... OMIM:611584
Cryptorchidism, Unilateral Or Bilateral
Renal agenesis OMIM:219050
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Gómez-López-Hernández Syndrome
Hydrocephalus, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Low-set ears, Abnorma... ORPHA:1532
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Optic atrophy, Hypoplasia of the fovea OMIM:620086
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Renal agenesis, Ectopic kidney, Unilateral renal agenesis OMIM:601076
Androgen Insensitivity, Partial
Absent vas deferens, Azoospermia, Bifid scrotum, Male pseudohermaphroditism, Cryptorchidism, Hypo... OMIM:312300
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1909
Meckel Syndrome 13
Occipital encephalocele, Molar tooth sign on MRI, Polycystic kidney dysplasia, Retinopathy, Cereb... OMIM:617562
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ... OMIM:305390
Oculorenocerebellar Syndrome
Retinal degeneration, Nephropathy, Glomerular sclerosis OMIM:257970
Oliver-Mcfarlane Syndrome
Decreased response to growth hormone stimulation test, Hypoplasia of penis, Peripheral axonal neu... OMIM:275400
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Renal cyst, Renal hypoplasia, Neonatal death, Ureteral agenesis, Renal dysplasia OMIM:236500
Nephrotic Syndrome, Type 21
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis... OMIM:618594
Currarino Syndrome
Vesicoureteral reflux, Hypospadias, Hypoplasia of penis ORPHA:1552
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein... OMIM:614131
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst... OMIM:602088
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre... ORPHA:891
Renal Tubular Dysgenesis
Renotubular dysgenesis, Proximal tubulopathy, Nephropathy, Multiple renal cysts ORPHA:3033
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Renal hypoplasia, Renal dysplasia, Urinary bladder wall hypertrophy OMIM:601389
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal neovascularization, Hyperautofluorescent macular lesion, Retinal pigment ... OMIM:608850
Syndromic Recessive X-Linked Ichthyosis
Renal insufficiency, Unilateral renal agenesis ORPHA:281090
Diabetic Embryopathy
Renal hypoplasia/aplasia, Ureteral duplication, Micropenis, Hydronephrosis ORPHA:1926
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis ORPHA:1046
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Stankiewicz-Isidor Syndrome
Ureteral duplication, Micropenis, Hypospadias OMIM:617516
Alagille Syndrome 2
Hematuria, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Proteinuria, Renal insufficiency OMIM:610205
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Proteinuria, Reduced renal corticomed... OMIM:603278
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Renal hypoplasia/aplasia, Multiple renal cysts, Vesicoureteral reflux ORPHA:1166
Nephrotic Syndrome, Type 23
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa... OMIM:619201
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Unilateral renal agenesis OMIM:618504
Cloacal Exstrophy
Renal hypoplasia/aplasia, Hydroureter, Ectopic kidney, Hypoplasia of penis, Vesicoureteral reflux... ORPHA:93929
Retinitis Pigmentosa 79
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular atrophy, O... OMIM:617460
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts OMIM:609886
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Vacterl Association With Hydrocephalus
Stillbirth, Renal hypoplasia OMIM:276950
7Q31 Microdeletion Syndrome
Childhood onset sensorineural hearing impairment, Low-set ears, Hypoplasia of the semicircular ca... ORPHA:251061
8Q12 Microduplication Syndrome
Vesicoureteral reflux ORPHA:228399
Retinitis Pigmentosa 47
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613758
Focal Segmental Glomerulosclerosis 9
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis OMIM:616220
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... OMIM:193235
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal insufficiency, Renal cyst, Retinal hemorrhage, Retinal arteriolar tortuosity OMIM:611773
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Optic disc drusen, ... OMIM:611040
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscle... OMIM:613237
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Ureteral duplication, Renal duplication OMIM:270420
Retinitis Pigmentosa 73
Bone spicule pigmentation of the retina, Geographic atrophy, Retinal atrophy, Macular crystals, E... OMIM:616544
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ... OMIM:266810
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Unilateral renal agenesis, Renal insufficiency, Polycystic kidney dysplasia, ... ORPHA:2237
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Macular degeneration, Retinal pigment epithelial mottling OMIM:600977
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Distal 16P11.2 Microdeletion Syndrome
Abnormality of the kidney, Vesicoureteral reflux, Renal agenesis, Proteinuria, Chronic kidney dis... ORPHA:261222
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... ORPHA:99429
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Macular atrophy, Optic disc pallor OMIM:604393
Nephronophthisis 19
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid... OMIM:616217
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney d... OMIM:617609
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Ectopic kidney, Azoospermia, Bicornuate uterus, Renal agenesis, Hearing impairment, Aplasia/hypop... ORPHA:2578
Proteinuria, Chronic Benign
Renal insufficiency, Proteinuria, Albuminuria OMIM:618884
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy, Optic disc pallor OMIM:614296
Retinal Dystrophy And Obesity
Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood vessels, Peripa... OMIM:616188
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal dystrophy, Retinal detachment, Abnormality of skin pigmentation, Abnormality of retinal p... OMIM:251270
Joubert Syndrome 14
Optic atrophy, Molar tooth sign on MRI, Encephalocele, Meningocele, Hydrocephalus, Dandy-Walker m... OMIM:614424
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of t... ORPHA:3109
Abruzzo-Erickson Syndrome
Hypospadias, Sensorineural hearing impairment, Coloboma, Macrotia, Conductive hearing impairment,... ORPHA:921
Meckel Syndrome, Type 10
Occipital encephalocele, Molar tooth sign on MRI, Anencephaly, Hypospadias, Dandy-Walker malforma... OMIM:614175
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, R... OMIM:613731
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar vermis atrophy, Cerebellar atrophy, Iron accumulation in substantia nigra, Retinal pig... OMIM:619389
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... OMIM:133780
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy, Hydrocephalus ORPHA:1538
Retinitis Pigmentosa 54
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613428
Thauvin-Robinet-Faivre Syndrome
Renal cyst, Bifid ureter, Renal dysplasia, Renal malrotation, Nephroblastoma OMIM:617107
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis OMIM:613779
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia
Micropenis, Unilateral renal agenesis OMIM:244200
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Uraciluria, Elevated urinary dihydrothymine level, Coloboma, Agenesis of corpus ca... OMIM:274270
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal interstitial fibrosis, Renal cyst, Hyperechoge... OMIM:619902
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia OMIM:613703
C3 Glomerulopathy
Acute kidney injury, Drusen, Hematuria, Yellow/white lesions of the retina, Central serous chorio... ORPHA:329918
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Cofs Syndrome
Optic atrophy, Sensorineural hearing impairment, Death in infancy, Abnormality of retinal pigment... ORPHA:1466
Nephrotic Syndrome, Type 12
Hematuria, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Diffuse mesa... OMIM:616892
Coloboma Of Macula With Type B Brachydactyly
Renal agenesis, Coloboma OMIM:120400
Retinitis Pigmentosa 1
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:180100
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Chudley-Mccullough Syndrome
Hydrocephalus, Cerebellar dysplasia, Severe sensorineural hearing impairment, Cerebellar hypoplas... OMIM:604213
Orofaciodigital Syndrome Xv
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Low-set ears, Hydronephrosis, Ventriculome... OMIM:617127
Nephrotic Syndrome, Type 9
Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephroti... OMIM:615573
Familial Visceral Myopathy
Megacystis, Vesicoureteral reflux, Hydroureter ORPHA:2604
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Urogenital s... ORPHA:90797
Combined Oxidative Phosphorylation Deficiency 11
Stillbirth, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Neonatal death, Renal dysplasia... OMIM:614922
Fibronectin Glomerulopathy
Glomerulopathy, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematur... ORPHA:84090
Microphthalmia, Lenz Type
Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Hydronephrosis, Chorioretinal coloboma, Optic... ORPHA:568
Congenital Bilateral Absence Of Vas Deferens
Abnormal renal morphology, Oligozoospermia, Absent vas deferens, Obstructive azoospermia ORPHA:48
Adenine Phosphoribosyltransferase Deficiency
Acute kidney injury, Recurrent urinary tract infections, Dysuria, Uric acid nephrolithiasis, Neph... ORPHA:976
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Beaulieu-Boycott-Innes Syndrome
Recurrent urinary tract infections, Horseshoe kidney, Unilateral renal agenesis, Patent ductus ar... OMIM:613680
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Unilateral renal agenesis, Micropenis, Crossed fused renal ectopia, Patent ductus arteriosus OMIM:618142
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Chorioretinal atrop... OMIM:613750
Meckel Syndrome, Type 9
Multicystic kidney dysplasia OMIM:614209
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Cone-Rod Dystrophy 24
Macular degeneration, Macular drusen, Cone/cone-rod dystrophy, Attenuation of retinal blood vesse... OMIM:620342
Optic Atrophy 15
Optic atrophy, Optic disc pallor OMIM:620583
Apert Syndrome
Optic atrophy, Hydrocephalus, Sensorineural hearing impairment, Conductive hearing impairment, Ab... ORPHA:87
Verheij Syndrome
Optic nerve hypoplasia, Coloboma, Renal cyst, Renal agenesis, Renal hypoplasia OMIM:615583
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal dystrophy, Attached earlobe, Attenuation of reti... OMIM:616108
Mandibulofacial Dysostosis With Alopecia
Hydroureter OMIM:616367
Abruzzo-Erickson Syndrome
Hypospadias, Coloboma, Hearing impairment, Macrotia, Protruding ear OMIM:302905
Senior-Loken Syndrome 3
Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts OMIM:606995
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Bilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Hyperechog... OMIM:617914
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Aplasia/Hypoplasia of the inner ear, Sensorineural hearing impairment, ... ORPHA:50815
Coach Syndrome 2
Molar tooth sign on MRI, Hydrocephalus, Cerebellar vermis hypoplasia, Coloboma, Chorioretinal col... OMIM:619111
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Abnormal sex determination, Abnormal vagina morp... ORPHA:168558
Meckel Syndrome 14
Occipital encephalocele, Polycystic kidney dysplasia, Aplasia of the uterus, Low-set ears, Holopr... OMIM:619879
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor, Decreased number of large periphe... OMIM:617087
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Hydrocephalus, Microtia, Aplasia of the uterus, Low-set ears, Cafe-au-... OMIM:614083
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Nephroti... ORPHA:567544
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Unilateral renal agenesis, Persistent cloaca OMIM:615709
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Abnormal sex determination, Abnormal vagina morp... ORPHA:289548
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 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy ORPHA:320396
Joubert Syndrome 2
Nephronophthisis, Encephalocele, Retinal dystrophy, Hydrocephalus, Renal cyst, Chorioretinal colo... OMIM:608091
Bietti Crystalline Dystrophy
Retinal thinning, Chorioretinal degeneration, Cystoid macular edema, Subretinal deposits, Chorioc... ORPHA:41751
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Chopra-Amiel-Gordon Syndrome
Unilateral renal agenesis OMIM:619504
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Hearing impairment, Optic atrophy, Cochlear degeneration ORPHA:95433
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
3-Methylglutaconic aciduria, Aminoaciduria, Renal hypoplasia, Lacticaciduria OMIM:604273
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Stargardt Disease
Retinal thinning, Abnormality of macular pigmentation, Macular degeneration, Yellow/white lesions... ORPHA:827
Amyloidosis, Finnish Type
Nephrotic syndrome, Urolithiasis, Renal glomerular amyloid deposition, Stage 5 chronic kidney dis... OMIM:105120
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Profound sensorineural hearing impairment, Absent internal auditory canal, Hypoplasia of the cochlea OMIM:620469
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Rod-cone dystrophy, Retinal pigment epithelial mottling OMIM:551500
Burn-Mckeown Syndrome
Renal hypoplasia, Unilateral renal agenesis OMIM:608572
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Renal agenesis, Renal hypoplasia, Patent ductus arteriosus, Micropenis ORPHA:171839
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund... OMIM:618613
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia ORPHA:3032
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Pontocerebellar Hypoplasia Type 7
Optic atrophy, Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Hypoplasia of... ORPHA:284339
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy, 3-Methylglutaconic aciduria, 3-Methylglutaric aciduria OMIM:258501
Orofaciodigital Syndrome Xvii
Renal hypoplasia, Micropenis OMIM:617926
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Hyperechogenic... OMIM:613159
Retinitis Pigmentosa 12
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:600105
Jeune Syndrome
Nephronophthisis, Renal insufficiency, Nephropathy ORPHA:474
Retinitis Pigmentosa 96
Retinal thinning, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:620228
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy OMIM:611726
Penoscrotal Transposition
Penoscrotal transposition, Hypospadias, Abnormality of the ureter, Renal agenesis, Renal dysplasi... ORPHA:2842
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Hypoplasia of penis ORPHA:2256
Retinitis Pigmentosa 7
Chorioretinal atrophy, Attenuation of retinal blood vessels, Rod-cone dystrophy, Pigmentary retin... OMIM:608133
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Decreased glomerular filtration rate, Nephropathy, Nephritis, Renal tubular atrophy, Renal insuff... OMIM:162000
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:614180
Dworschak-Punetha Neurodevelopmental Syndrome
Vesicoureteral reflux, Unilateral renal hypoplasia OMIM:619955
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Synotia, Abnormal cranial nerve morphology, Holoprosencephaly,... ORPHA:990
Even-Plus Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal hypoplasia OMIM:616854
Leber Congenital Amaurosis 1
Optic disc drusen, Sensorineural hearing impairment, Fundus atrophy, Attenuation of retinal blood... OMIM:204000
Congenital Muscular Dystrophy With Intellectual Disability
Cerebellar vermis hypoplasia, Facial palsy, Abnormal pons morphology, Cerebellar hypoplasia, Cryp... ORPHA:370968
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Hypogonadism, Retinal degeneration, Crypto... ORPHA:3363
Hadziselimovic Syndrome
Renal hypoplasia OMIM:612946
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy ORPHA:75373
Achromatopsia
Inner retinal layer loss on macular OCT, Attenuation of retinal blood vessels, Hypoplasia of the ... ORPHA:49382
Cone-Rod Dystrophy, X-Linked, 3
Retinal detachment, Abnormality of macular pigmentation, Cone/cone-rod dystrophy, Absent foveal r... OMIM:300476
Macular Dystrophy With Central Cone Involvement
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Optic disc pallor, Bull's eye maculo... OMIM:616170
Retinitis Pigmentosa 40
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613801
Leber Congenital Amaurosis 2
Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Absent foveal reflex, Pi... OMIM:204100
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:619007
Senior-Loken Syndrome 8
Nephronophthisis, Glomerular subepithelial immune-complex deposits, Global glomerulosclerosis, He... OMIM:616307
Mungan Syndrome
Renal hypoplasia, Vesicoureteral reflux OMIM:611376
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy, Chorioretinal coloboma, Optic disc coloboma, Iris coloboma OMIM:602499
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction OMIM:124950
Acrorenal Syndrome
Abnormal renal morphology, Renal hypoplasia/aplasia, Renal insufficiency ORPHA:971
Retinitis Pigmentosa 84
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... OMIM:618220
Coenzyme Q10 Deficiency, Primary, 6
Nephrolithiasis, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Proteinuria, St... OMIM:614650
Cenani-Lenz Syndactyly Syndrome
Renal agenesis, Renal hypoplasia, Ectopic kidney OMIM:212780
Coloboma, Ocular, Autosomal Recessive
Iris coloboma, Optic disc coloboma, Retinal coloboma OMIM:216820
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Unilateral renal agenesis, Patent ductus arteriosus OMIM:609757
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Abnormality of the autonomic nervous system ORPHA:1186
Joubert Syndrome 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst OMIM:611560
Iga Nephropathy, Susceptibility To, 1
Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease OMIM:161950
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... ORPHA:90793
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Joubert Syndrome 1
Retinal dysplasia, Retinal dystrophy, Renal cyst, Occipital myelomeningocele, Chorioretinal colob... OMIM:213300
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Attenuation of retinal b... OMIM:604116
Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities
Vesicoureteral reflux OMIM:620445
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Hematuria, Retinal detachment, Chorioretinal coloboma, Iris coloboma ORPHA:1473
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Renal insufficiency, Hydrocephalus, Nephropathy, Chorioretinal coloboma,... ORPHA:1454
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Hypospadias, Spina bifida ORPHA:3176
Codas Syndrome
Hydroureter ORPHA:1458
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Renal hypoplasia, Proteinuria, Stage 5 chronic kidney disea... OMIM:614376
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Retinal thinning, Optic disc pallor OMIM:618970
Nephronophthisis 11
Polyuria, Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Stag... OMIM:613550
Nephrotic Syndrome, Type 2
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:600995
Retinitis Pigmentosa 78
Cystoid macular edema, Optic disc pallor OMIM:617433
Biemond Syndrome Type 2
Hypospadias, Hydrocephalus, Coloboma, Hypogonadism, Hypogonadotropic hypogonadism ORPHA:141333
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Duplication Of Urethra
Rectourethral fistula, Epispadias, Urinary incontinence, Hypospadias, Recurrent urinary tract inf... ORPHA:237
Retinitis Pigmentosa 9
Macular edema, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy OMIM:180104
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Intellectual Developmental Disorder, X-Linked, Syndromic, Gustavson Type
Optic atrophy OMIM:309555
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Bifid ureter, Nephroblastoma, Renal malrotation, Multicystic kidney dysplasia ORPHA:500095
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy OMIM:612572
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Renal hypoplasia, Ketonuria OMIM:619053
Intellectual Developmental Disorder, Autosomal Dominant 72
Renal hypoplasia, Micropenis OMIM:620439
Joubert Syndrome 36
Sensorineural hearing impairment, Molar tooth sign on MRI OMIM:618763
Senior-Loken Syndrome 1
Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Impaired renal concentrating ability, St... OMIM:266900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Renal cyst, Chronic kidney disease OMIM:617056
Thrombocytopenia-Absent Radius Syndrome
Abnormality of the kidney, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, A... ORPHA:3320
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Hydronephrosis, Urethral atresia, Absent external g... OMIM:271520
Coach Syndrome 1