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Gene: Gne MGI:1354951

Gene Summary

Name:

glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase

Synonyms:

2310066H07Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal placenta morphology	Gne^em1(IMPC)Mbp	HET	E15.5	0.00
preweaning lethality, complete penetrance	Gne^em1(IMPC)Mbp	HOM	Early adult	0.00
microphthalmia	Gne^em1(IMPC)Mbp	HET	E15.5	0.00
prenatal lethality prior to heart atrial septation	Gne^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal vitreous body morphology	Gne^em1(IMPC)Mbp	HET	Early adult	8.70×10^-05
abnormal neural tube morphology	Gne^em1(IMPC)Mbp	HOM	E9.5	0.00
embryonic growth retardation	Gne^em1(IMPC)Mbp	HET	E15.5	0.00
decreased prepulse inhibition	Gne^em1(IMPC)Mbp	HET	Early adult	9.91×10^-06
persistence of hyaloid vascular system	Gne^em1(IMPC)Mbp	HET	Early adult	1.24×10^-05
edema	Gne^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal heart morphology	Gne^em1(IMPC)Mbp	HOM	E9.5	0.00

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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.

X-ray

XRay Images Whole Body Dorso Ventral

48 Images

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Gross Morphology Embryo E9.5

Images

9 Images

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MicroCT E9.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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Human diseases caused by Gne 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.

Human diseases associated with Gne (4 diseases)
Human diseases predicted to be associated with Gne (1435 diseases)

The table below shows human diseases associated to Gne by orthology or direct annotation.

Disease	Matching phenotypes	Source
Sialuria	Attention deficit hyperactivity disorder, Increased level of N-acetylneuraminic acid in urine	OMIM:269921
Gne Myopathy	Cardiomyopathy	ORPHA:602
Nonaka Myopathy	Elevated circulating creatine kinase concentration	OMIM:605820
Sialuria	Attention deficit hyperactivity disorder, Prolonged prothrombin time	ORPHA:3166

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

Disease	Matching phenotypes	Source
Nephrotic Syndrome, Type 24	Focal segmental glomerulosclerosis, Renal cortical hyperechogenicity, Steroid-resistant nephrotic...	OMIM:619263
Nephrotic Syndrome, Type 23	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti...	OMIM:619201
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:301028
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:616032
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r...	OMIM:620049
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome...	OMIM:618594
Nephrotic Syndrome, Type 4	Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero...	OMIM:256370
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria...	OMIM:616002
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote...	OMIM:603965
Nephrotic Syndrome, Type 17	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:618176
Coenzyme Q10 Deficiency, Primary, 6	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:614650
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s...	OMIM:616893
Nephrotic Syndrome, Type 12	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616892
Nephrotic Syndrome, Type 3	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangia...	OMIM:610725
Nephrotic Syndrome, Type 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:615573
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Spastic Paraplegia, Sensorineural Deafness, Impaired Intellectual Development, And Progressive Nephropathy	Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus	OMIM:182690
Aneurysm, Intracranial Berry, 12	Fusiform cerebral aneurysm, Cerebral berry aneurysm, Subarachnoid hemorrhage, Internal carotid ar...	OMIM:618734
Focal Segmental Glomerulosclerosis 6	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hematuria, Nephr...	OMIM:614131
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema...	OMIM:613237
Lipoprotein Glomerulopathy	Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity	OMIM:611771
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency	OMIM:607832
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Mesangial sclerosis, diffuse renal, with ocular abnormalities	Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency	OMIM:249660
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,...	OMIM:310468
Aneurysm, Intracranial Berry, 1	Dilatation of the cerebral artery, Intracranial hemorrhage	OMIM:105800
Aneurysm, Intracranial Berry, 2	Subarachnoid hemorrhage, Cerebral berry aneurysm	OMIM:608542
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:600995
Alport Syndrome 3B, Autosomal Recessive	Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur...	OMIM:620536
C3 Glomerulopathy 3	Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes...	OMIM:614809
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos...	OMIM:308990
Internal Carotid Absence	Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia	ORPHA:981
Nephrotic Syndrome, Type 6	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:614196
Glomerulopathy With Fibronectin Deposits 2	Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis...	OMIM:601894
Iga Nephropathy, Susceptibility To, 2	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria	OMIM:613944
Nephrotic Syndrome, Type 8	Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidney disease, Protei...	OMIM:615244
Oculorenocerebellar Syndrome	Nephropathy, Glomerular sclerosis	OMIM:257970
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Genetic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, St...	ORPHA:656
Polycystic Kidney Disease 7	Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ...	OMIM:620056
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits	ORPHA:69063
Nephrotic Syndrome, Type 22	Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff...	OMIM:619155
Proteinuria, Chronic Benign	Proteinuria, Albuminuria, Renal insufficiency	OMIM:618884
Glomerulopathy With Fibronectin Deposits 1	Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency...	OMIM:137950
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Enterocolitis, Mesangial hypercellularity	OMIM:620425
Branchiootorenal Syndrome 2	Renal insufficiency, Renal dysplasia	OMIM:610896
Nephronophthisis 13	Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immu...	OMIM:614377
Nephrotic Syndrome, Type 11	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom...	OMIM:616730
Renal Failure, Progressive, With Hypertension	Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Microscopic hematuria	OMIM:161900
Nephrotic Syndrome, Type 16	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria	OMIM:617783
Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Stage...	ORPHA:567548
Renal Dysplasia, Cystic, Susceptibility To	Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal...	OMIM:601331
Nephrotic Syndrome, Type 7	Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo...	OMIM:615008
Iga Nephropathy, Susceptibility To, 1	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria	OMIM:161950
Primary Membranoproliferative Glomerulonephritis	Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Renal insufficiency,...	ORPHA:54370
Galloway-Mowat Syndrome 4	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome...	OMIM:617730
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease	OMIM:614455
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Steroid-resistant...	OMIM:617609
Galloway-Mowat Syndrome 8	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, Proteinuria, Nephr...	OMIM:618349
Iga Nephropathy, Susceptibility To, 3	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro...	OMIM:616818
Galloway-Mowat Syndrome 10	Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ...	OMIM:619609
Nephrotic Syndrome, Type 1	Congenital nephrotic syndrome, Renal insufficiency, Proteinuria, Diffuse mesangial sclerosis, Glo...	OMIM:256300
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduc...	OMIM:603278
Nail-Patella-Like Renal Disease	Proteinuria, Microscopic hematuria, Renal insufficiency, Glomerulopathy	ORPHA:2613
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Hydronephrosis, Duplicated collecting system	OMIM:163850
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:614199
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Abnormal glomerular mesangium morphology, Renal insufficiency, Skin rash, Pr...	ORPHA:567544
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas...	ORPHA:2260
Cerebral Cavernous Malformations 2	Telangiectasia, Cerebral cavernous malformation, Stroke, Cerebral hemorrhage	OMIM:603284
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology	OMIM:602114
Cerebral Amyloid Angiopathy, Cst3-Related	Stroke, Intracranial hemorrhage, Cerebral hemorrhage	OMIM:105150
Frasier Syndrome	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:136680
Cerebral Cavernous Malformations	Cerebral cavernous malformation, Intracranial hemorrhage	OMIM:116860
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom...	OMIM:618348
Reni Syndrome	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:617575
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria	ORPHA:419
Cystinuria	Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu...	OMIM:220100
Nephronophthisis 20	Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren...	OMIM:617271
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch...	OMIM:617731
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Glycosuria, Renal tubular cyst, Elevated circulating creatinine concentration, ...	OMIM:614817
Circumvallate Placenta Syndrome	Intracranial hemorrhage	OMIM:215550
Hematuria, Benign Familial, 2	Proteinuria, Abnormal glomerular basement membrane morphology, Microscopic hematuria	OMIM:620320
Complement Component 3 Deficiency, Autosomal Recessive	Nephrotic syndrome, Recurrent pneumonia, Renal insufficiency, Membranoproliferative glomeruloneph...	OMIM:613779
Hanac Syndrome	Hematuria, Multiple renal cysts, Renal insufficiency	ORPHA:73229
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Minimal change glomerulonephritis, Podocyte foot process effacement, Proteinuria, Colitis, Nephro...	OMIM:617006
Complement Factor H Deficiency	Chronic kidney disease, Hematuria, Thickened glomerular basement membrane, Glomerular subendothel...	OMIM:609814
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Arthritis	OMIM:216950
Bardet-Biedl Syndrome 10	Renal cyst, Renal insufficiency	OMIM:615987
Senior-Loken Syndrome 6	Stage 5 chronic kidney disease	OMIM:610189
Galloway-Mowat Syndrome 2, X-Linked	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:301006
Nephrotic Syndrome, Type 10	Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Podo...	OMIM:615861
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Nephronophthisis 7	Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis	OMIM:611498
Abetal34V Amyloidosis	Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage	ORPHA:324703
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Gout, Renal cyst	OMIM:617056
Bardet-Biedl Syndrome 18	Stage 5 chronic kidney disease, Renal insufficiency	OMIM:615995
Bardet-Biedl Syndrome 14	Renal insufficiency	OMIM:615991
Cerebral Cavernous Malformations 3	Cerebral cavernous malformation, Cerebral hemorrhage	OMIM:603285
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, D...	OMIM:174000
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis	OMIM:613913
Fibronectin Glomerulopathy	Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glomerulopathy, Nephr...	ORPHA:84090
Familial Cervical Artery Dissection	Dilatation of the cerebral artery, Transient ischemic attack, Cerebral ischemia, Stroke, Subarach...	ORPHA:36382
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Gout, Renal tu...	OMIM:162000
Factor Vii Deficiency	Epistaxis, Abnormal bleeding, Bruising susceptibility, Prolonged bleeding after dental extraction...	OMIM:227500
Lipedema	Edema	OMIM:614103
Camos Syndrome	Nephrotic syndrome, Renal insufficiency	ORPHA:83472
Congenital Factor V Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hematochezia, Prolonged bleeding follo...	ORPHA:326
Factor Xiii, A Subunit, Deficiency Of	Gingival bleeding, Epistaxis, Abnormal bleeding, Bruising susceptibility, Spontaneous hematomas, ...	OMIM:613225
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria	ORPHA:2820
Nephronophthisis	Renal insufficiency	ORPHA:655
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Galloway-Mowat Syndrome 9	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis	OMIM:619603
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts	OMIM:609886
Frasier Syndrome	Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa...	ORPHA:347
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Glomerular bas...	OMIM:609057
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal...	OMIM:611555
Alport Syndrome	Focal segmental glomerulosclerosis, Nephritis, Thickened glomerular basement membrane, Glomerular...	ORPHA:63
Abeta Amyloidosis, Italian Type	Stroke, Cerebral hemorrhage	ORPHA:324713
Bardet-Biedl Syndrome 16	Renal agenesis, Recurrent otitis media, Stage 5 chronic kidney disease, Renal insufficiency, Rena...	OMIM:615993
2p15-16.1 microdeletion syndrome	Hydronephrosis	DECIPHER:70
Renal Cysts And Diabetes Syndrome	Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop...	OMIM:137920
Alport Syndrome 2, Autosomal Recessive	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:203780
Lipodystrophy, Partial, Acquired, Susceptibility To	Proteinuria, Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis	OMIM:608709
Indomethacin Embryofetopathy	Nephropathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency	ORPHA:1909
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Stage 5 ...	ORPHA:329918
Congenital Factor Ii Deficiency	Epistaxis, Prolonged bleeding following circumcision, Abnormal bleeding, Excessive bleeding from ...	ORPHA:325
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi...	ORPHA:617
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Acute kidney injury, Decreased glomerular filtration rate, ...	ORPHA:94088
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Focal segmental glomerulosclerosis, Nephrotic syndrome, Enterocolitis, Mild proteinuria	OMIM:301108
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki...	OMIM:617641
Afibrinogenemia, Congenital	Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr...	OMIM:202400
Galloway-Mowat Syndrome 6	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria	OMIM:618347
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ...	ORPHA:2838
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Hydronephrosis, Abnormality of the urinary system	ORPHA:2669
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr...	OMIM:617805
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti...	OMIM:617610
Abeta Amyloidosis, Iowa Type	Stroke, Abnormal cerebral vascular morphology, Cerebral hemorrhage	ORPHA:324708
Atypical Hemolytic Uremic Syndrome	Proteinuria, Hematuria, Acute kidney injury	ORPHA:2134
Reversible Cerebral Vasoconstriction Syndrome	Vasospasm, Abnormal bleeding, Subdural hemorrhage, Dilatation of the cerebral artery, Transient i...	ORPHA:284388
Congenital Factor Vii Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ...	ORPHA:327
Gombo Syndrome	Delayed puberty, Microphthalmia	OMIM:233270
Immune Thrombocytopenia	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hemorrhage of the eye, Bruising suscep...	ORPHA:3002
Nephrosialidosis	Nephropathy, Nephrotic syndrome, Renal insufficiency	OMIM:256150
Familial Cerebral Saccular Aneurysm	Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T...	ORPHA:231160
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane...	OMIM:104200
Pauci-Immune Glomerulonephritis	Acute kidney injury, Arteritis, Decreased glomerular filtration rate, Renal insufficiency, Protei...	ORPHA:93126
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Proteinuria, Glomerular sclerosis, Glomerulonephritis, Nephrotic syndrome, Hypospadias	OMIM:619428
Dent Disease	Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri...	ORPHA:1652
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep...	OMIM:613496
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio...	OMIM:143400
Imerslund-Grasbeck Syndrome 2	Proteinuria, Moderate albuminuria, Renal insufficiency, Recurrent urinary tract infections	OMIM:618882
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hyperleucinemia, Hyperammonemia, Decreased body weight, Polyphagia, Hypervalin...	OMIM:620085
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, St...	ORPHA:567546
Coach Syndrome 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal interstitial fibrosi...	OMIM:619113
Factor X Deficiency	Gingival bleeding, Epistaxis, Intracranial hemorrhage, Prolonged bleeding after surgery, Prolonge...	OMIM:227600
Adenine Phosphoribosyltransferase Deficiency	Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract...	ORPHA:976
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Multifo...	OMIM:619897
Nephronophthisis-Like Nephropathy 2	Stage 5 chronic kidney disease, Renal insufficiency, Polyuria, Tubular luminal dilatation, Perigl...	OMIM:619468
Ring Chromosome 8 Syndrome	Hydronephrosis, Abnormality of the ureter	ORPHA:1450
Cerebral Amyloid Angiopathy, App-Related	Tortuous cerebral arteries, Cerebral ischemia, Stroke, Subarachnoid hemorrhage, Cerebellar hemorr...	OMIM:605714
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E...	ORPHA:84085
Thyrocerebrorenal Syndrome	Nephritis, Renal insufficiency	ORPHA:3327
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Glanzmann Thrombasthenia 1	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin...	OMIM:273800
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Red-brown urine, Stage 5 chronic kidney disease, Renal insufficiency, Myoglobinuria, Renal tubula...	ORPHA:228302
Lessel-Kubisch Syndrome	Renal hypoplasia, Renal insufficiency	OMIM:618681
Congenital Alpha2-Antiplasmin Deficiency	Gingival bleeding, Abnormal bleeding, Bruising susceptibility, Hemothorax, Intracranial hemorrhag...	ORPHA:79
Hemophilia A	Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem...	ORPHA:98878
Nephronophthisis 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico...	OMIM:604387
Cerebrooculofacioskeletal Syndrome 3	Intrauterine growth retardation, Edema, Microphthalmia	OMIM:616570
Hypouricemia, Renal, 1	Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper...	OMIM:220150
Urofacial Syndrome 2	Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro...	OMIM:615112
Familial Afibrinogenemia	Gingival bleeding, Epistaxis, Abnormal bleeding, Cerebral hemorrhage	ORPHA:98880
Preeclampsia/Eclampsia 1	Proteinuria	OMIM:189800
Senior-Loken Syndrome 8	Glomerular subepithelial immune-complex deposits, Global glomerulosclerosis, Stage 5 chronic kidn...	OMIM:616307
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ...	OMIM:194080
Fetal And Neonatal Alloimmune Thrombocytopenia	Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous hematomas, Petechiae, Ecchymosis, Sub...	ORPHA:853
Adenine Phosphoribosyltransferase Deficiency	Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ...	OMIM:614723
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricosuria, Arthri...	ORPHA:411536
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki...	OMIM:618270
Congenital Nephrotic Syndrome, Finnish Type	Proteinuria, Nephrotic syndrome, Abnormal renal tubule morphology	ORPHA:839
Congenital Factor Xiii Deficiency	Gingival bleeding, Epistaxis, Delayed onset bleeding, Prolonged bleeding following circumcision, ...	ORPHA:331
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne...	OMIM:612925
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Failure to thrive, Hypomagnesemia, Hyperechogenic kidneys, Hyperuricemia,...	OMIM:613845
Joubert Syndrome 4	Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff...	OMIM:609583
Amyloidosis, Hereditary Systemic 2	Nephropathy, Renal amyloidosis, Skin rash, Proteinuria, Hematuria, Nephrotic syndrome	OMIM:105200
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Failure to thrive, Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicouret...	OMIM:191800
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Xanthinuria, Type Ii	Increased urinary hypoxanthine level, Xanthinuria, Renal insufficiency, Nephrolithiasis	OMIM:603592
Renal Dysplasia	Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Congenital Factor X Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h...	ORPHA:328
Moderate Hemophilia A	Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo...	ORPHA:169805
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612926
Paternal Uniparental Disomy Of Chromosome 1	Obesity, Proteinuria, Polyphagia, Hypertension, Increased blood urea nitrogen, Macroscopic hematu...	ORPHA:251004
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Pulmonary embolism, Cerebral hemorrhage	OMIM:614514
Galactosemia I	Aminoaciduria, Galactosuria, Albuminuria, Increased level of galactitol in urine	OMIM:230400
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612924
Aapoaiv Amyloidosis	Chronic kidney disease, Renal amyloidosis, Proteinuria, Glomerular sclerosis, Abnormal renal medu...	ORPHA:439232
Hemophilia B	Prolonged bleeding after dental extraction, Intracranial hemorrhage, Spontaneous, recurrent epist...	ORPHA:98879
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Proteinuria, Glomerulopathy, Renal insufficiency	ORPHA:2668
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency	OMIM:261670
Dent Disease 2	Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig...	OMIM:300555
Combined Deficiency Of Factor V And Factor Viii	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis...	ORPHA:35909
Systemic Lupus Erythematosus	Nephritis, Malar rash, Lupus nephritis, Arthritis, Pericarditis	OMIM:152700
Coenzyme Q10 Deficiency, Primary, 1	Focal segmental glomerulosclerosis, Proteinuria, Glomerular sclerosis, Recurrent myoglobinuria, N...	OMIM:607426
Nephronophthisis 18	Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Tubuloi...	OMIM:615862
Galloway-Mowat Syndrome 3	Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomerular sclerosis, N...	OMIM:617729
Acrorenal Syndrome	Abnormal renal morphology, Renal insufficiency, Renal hypoplasia/aplasia	ORPHA:971
Severe Hemophilia A	Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor...	ORPHA:169802
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Iris coloboma, Remnants of the hyaloid vascular system, Chorioretinal coloboma	ORPHA:231736
Macdermot-Winter Syndrome	Hydronephrosis	OMIM:247990
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis, Renal insufficiency, ...	OMIM:610984
Igg4-Related Kidney Disease	Chronic kidney disease, Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Urethriti...	ORPHA:449395
Familial Mediterranean Fever, Autosomal Dominant	Renal amyloidosis, Erysipelas, Renal insufficiency, Proteinuria, Peritonitis	OMIM:134610
Nephronophthisis 16	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi...	OMIM:615382
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre...	ORPHA:93110
Igg4-Related Retroperitoneal Fibrosis	Acute kidney injury, Budd-Chiari syndrome, Elevated circulating creatinine concentration, Large v...	ORPHA:49041
Coenzyme Q10 Deficiency, Primary, 3	Proteinuria, Nephrotic syndrome	OMIM:614652
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Glomerulopathy...	OMIM:254900
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Denys-Drash Syndrome	Nephropathy, Proteinuria, Nephrotic syndrome, Nephroblastoma	ORPHA:220
C1Q Deficiency 1	Membranoproliferative glomerulonephritis	OMIM:613652
Megabladder, Congenital	Fetal megacystis, Stage 5 chronic kidney disease, Multiple glomerular cysts, Hyperechogenic kidneys	OMIM:618719
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Hyperoxaluria, Primary, Type Ii	Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis	OMIM:260000
Acquired Partial Lipodystrophy	Proteinuria, Glomerulopathy, Microscopic hematuria	ORPHA:79087
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Gout, ...	OMIM:618061
Lecithin:Cholesterol Acyltransferase Deficiency	Proteinuria, Renal insufficiency	OMIM:245900
Anti-Glomerular Basement Membrane Disease	Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Arthritis	ORPHA:375
Myoglobinuria, Autosomal Dominant	Acute kidney injury, Myoglobinuria	OMIM:160010
Primary Hyperoxaluria Type 2	Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ...	ORPHA:93599
Senior-Loken Syndrome	Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis	ORPHA:3156
Glycogen Storage Disease Xi	Myoglobinuria, Renal insufficiency	OMIM:612933
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness	Hydronephrosis, Hydroureter, Pulmonic stenosis	OMIM:264140
Myh9-Related Disease	Nephropathy, Nephritis, Renal insufficiency, Proteinuria	ORPHA:182050
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Hereditary Xanthinuria	Hypouricemia, Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, I...	ORPHA:3467
Nephronophthisis 9	Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts	OMIM:613824
Alport Syndrome 1, X-Linked	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:301050
Sporadic Pheochromocytoma/Secreting Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G...	ORPHA:276621
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Nephronophthisis, Polyuria	OMIM:606996
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Renal corticomedullar...	OMIM:603860
Congenital Varicella Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:291
Lesch-Nyhan Syndrome	Hematuria, Gout, Renal insufficiency	ORPHA:510
Lethal Infantile Mitochondrial Myopathy	Renal insufficiency	ORPHA:254857
Granulomatous Slack Skin	Acute kidney injury, Nephrocalcinosis	ORPHA:33111
Hyperuricemia, Hprt-Related	Hyperuricosuria, Renal insufficiency, Podagra, Nephrolithiasis	OMIM:300323
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma...	ORPHA:85445
Rhabdomyolysis, Susceptibility To, 1	Renal insufficiency	OMIM:620235
Xanthinuria, Type I	Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria	OMIM:278300
Ochoa Syndrome	Urethral obstruction, Polydipsia, Recurrent urinary tract infections, Vesicoureteral reflux, Rena...	ORPHA:2704
Distal 16P11.2 Microdeletion Syndrome	Chronic kidney disease, Renal agenesis, Obesity, Vesicoureteral reflux, Hyperuricemia, Proteinuri...	ORPHA:261222
Cholestasis, Progressive Familial Intrahepatic, 12	Proteinuria, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Increased serum bile acid concent...	OMIM:620010
Nephronophthisis 1	Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal...	OMIM:256100
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Epidural hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extr...	ORPHA:465
X-Linked Intellectual Disability, Schimke Type	Failure to thrive in infancy, Hydronephrosis, Vesicoureteral reflux	ORPHA:85285
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Nephropathy, Acute kidney injury, Renal insufficiency, Gout, Hyperuricosuria, Macroscopic hematur...	ORPHA:79233
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal corticomedu...	OMIM:602522
Senior-Loken Syndrome 1	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal concentrati...	OMIM:266900
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, Tubulointerstitial fibrosis	OMIM:618913
Galloway-Mowat Syndrome 1	Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Diffuse mesangial sclerosis...	OMIM:251300
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis	OMIM:314000
Brain Small Vessel Disease 2	Intracranial hemorrhage	OMIM:614483
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu...	OMIM:610805
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria, Arrhythmia, Decreased serum cre...	ORPHA:54057
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Arterial stenosis, Stroke, Cerebra...	ORPHA:136
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Preeclampsia	Chronic kidney disease, Elevated systolic blood pressure, Acute kidney injury, Elevated diastolic...	ORPHA:275555
Fanconi Renotubular Syndrome 3	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphaturia	OMIM:615605
Lcat Deficiency	Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ...	ORPHA:650
Aicardi-Goutieres Syndrome 9	Thickened glomerular basement membrane, Recurrent urinary tract infections, Hyperechogenic kidney...	OMIM:619487
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:2364
Nephronophthisis 4	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia...	OMIM:606966
Autoinflammatory-Pancytopenia Syndrome	Proteinuria, Chilblains, Membranoproliferative glomerulonephritis, Intestinal inflammation	OMIM:619858
Developmental Delay, Language Impairment, And Ocular Abnormalities	Frequent temper tantrums, Facial telangiectasia, Hydronephrosis, Aggressive behavior, Attention d...	OMIM:620141
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia	OMIM:609054
Urofacial Syndrome 1	Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v...	OMIM:236730
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal cyst, Renal insufficiency	OMIM:611773
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Gout, Nephrolithiasis, ...	OMIM:232200
Systemic Sclerosis	Chronic kidney disease, Acute kidney injury, Osteomyelitis, Renal insufficiency, Proteinuria, Glo...	ORPHA:90291
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Glomerulonephritis	OMIM:247800
Acquired Ichthyosis	Recurrent skin infections, Renal insufficiency	ORPHA:454
Cat-Eye Syndrome	Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:195
Drug-Induced Lupus Erythematosus	Petechiae, Elevated circulating creatine kinase concentration, Hematuria, Increased blood urea ni...	ORPHA:231111
Cryoglobulinemia, Familial Mixed	Chronic kidney disease, Proteinuria, Hematuria, Abnormal renal physiology	OMIM:123550
Sneddon Syndrome	Intracranial hemorrhage, Hypertension, Arterial stenosis	ORPHA:820
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Renal insufficiency, Gout, Hyperuricosuria, Arthritis, Uric acid nephrolithi...	ORPHA:411543
Imerslund-Grasbeck Syndrome 1	Proteinuria, Microscopic hematuria	OMIM:261100
Thrombotic Thrombocytopenic Purpura, Hereditary	Abnormal renal physiology, Elevated circulating creatinine concentration, Transient ischemic atta...	OMIM:274150
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Glomerular sclerosis, Increased blood urea nitroge...	OMIM:223900
Image Syndrome	Hydronephrosis, Hypospadias	ORPHA:85173
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Failure to thrive, Beta 2-microglobulinuria, ...	ORPHA:97362
Renal Coloboma Syndrome	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal...	ORPHA:1475
Liddle Syndrome	Nephropathy, Renal insufficiency	ORPHA:526
Alagille Syndrome 2	Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria	OMIM:610205
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Nephritis, Pyelonephritis, Renal dysplasia, Unilateral renal atrophy	OMIM:314300
Hereditary Pheochromocytoma-Paraganglioma	Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G...	ORPHA:29072
Periventricular Nodular Heterotopia 1	Stroke, Patent ductus arteriosus, Cerebral hemorrhage	OMIM:300049
Bardet-Biedl Syndrome 19	Hydronephrosis, Renal hypoplasia, Obesity, Renal insufficiency	OMIM:615996
Microphthalmia/Coloboma 5	Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Hepatic Veno-Occlusive Disease	Renal insufficiency	ORPHA:890
Thyrocerebroretinal Syndrome	Nephritis	OMIM:274240
Dent Disease 1	Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo...	OMIM:300009
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
8P23.1 Duplication Syndrome	Hydronephrosis, Pulmonic stenosis	ORPHA:251076
Acquired Von Willebrand Syndrome	Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Hypotension, Epistaxis,...	ORPHA:99147
Congenital Myopathy 19	Hydronephrosis, Renal atrophy, Dysphagia	OMIM:618578
Vascular Hyalinosis	Hematochezia, Vascular dilatation, Subarachnoid hemorrhage	OMIM:277175
Snakebite Envenomation	Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Cerebral ischemi...	ORPHA:449285
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Aminoaciduria, Nephrocalcinosis, Glycosuria, Large for gestational age, Hyperphosph...	OMIM:616026
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Microphthalmia/Coloboma 10	Anophthalmia, Microphthalmia	OMIM:616428
Fanconi Renotubular Syndrome 2	Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g...	OMIM:613388
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis	OMIM:305800
Fanconi Renotubular Syndrome 1	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur...	OMIM:134600
Epidermolysis Bullosa Simplex With Pyloric Atresia	Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde...	ORPHA:158684
Cystinuria	Hematuria, Renal insufficiency, Nephrolithiasis	ORPHA:214
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil...	OMIM:232240
Multicentric Carpotarsal Osteolysis Syndrome	Proteinuria, Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency	OMIM:166300
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Nephropathy, Pneumonia, Skin rash, Proteinuria, Glomerular sclerosis	ORPHA:247691
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria, Glomerulonephritis, Chronic tubulo...	OMIM:614376
Cednik Syndrome	Proteinuria, Nephrotic syndrome	ORPHA:66631
Retinitis Pigmentosa 59	Micropenis, Renal insufficiency	OMIM:613861
Al Amyloidosis	Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Abnormality of the kidney,...	ORPHA:85443
Pierson Syndrome	Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis,...	OMIM:609049
Nanophthalmos	Microphthalmia	ORPHA:35612
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Nephropathy, Aminoaciduria, Nephrocalcinosis, Failure to thrive, Glycosuria, Renal tubular acidos...	OMIM:613404
Jeune Syndrome	Nephropathy, Nephronophthisis, Renal insufficiency	ORPHA:474
Wyburn-Mason Syndrome	Gingival bleeding, Epistaxis, Arteriovenous malformation, Abnormal cerebral vascular morphology, ...	ORPHA:53719
Schimke Immuno-Osseous Dysplasia	Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 chron...	ORPHA:1830
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil...	OMIM:232220
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Chronic mucocutaneous candi...	OMIM:102700
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Nephritis, Recurrent pneumonia, Proteinuria, Nephrotic syndro...	OMIM:617303
Familial Isolated Hyperparathyroidism	Nephrocalcinosis, Hypercalciuria, Renal insufficiency, Hyperphosphaturia	ORPHA:99879
Malaria	Acute kidney injury	ORPHA:673
Leiomyomatosis, Diffuse, With Alport Syndrome	Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, St...	OMIM:308940
Nanophthalmos 4	Microphthalmia	OMIM:615972
Sneddon Syndrome	Stroke, Ischemic stroke, Hypertension, Cerebral hemorrhage	OMIM:182410
Fanconi Anemia, Complementation Group O	Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease, Neonatal death	OMIM:613390
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Ureteropelvic junction obstruction, Hydronephrosis...	OMIM:154230
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Increased blood urea nitrogen, Failure to thrive	OMIM:617872
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic...	OMIM:602088
Vitamin B12-Responsive Methylmalonic Acidemia	Renal insufficiency	ORPHA:28
Combined Oxidative Phosphorylation Deficiency 24	Focal segmental glomerulosclerosis	OMIM:616239
Actinic Prurigo	Pyoderma, Cheilitis, Glomerulonephritis	OMIM:174770
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:1192
Schimke Immunoosseous Dysplasia	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu...	OMIM:242900
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Acute kidney injury, Myoglobinuria	OMIM:268200
Orofaciodigital Syndrome Xv	Hydronephrosis	OMIM:617127
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Chronic kidney disease, Thickened glomerular basement membrane, Nephrocalcinosis, Unilateral rena...	OMIM:146255
Vesicoureteral Reflux 3	Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico...	OMIM:613674
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Gastrointestinal hemorrhage, Abnormal urinary electrolyte concentration, Congestive ...	ORPHA:85450
Microcephaly-Microcornea Syndrome, Seemanova Type	Short stature, Growth delay, Microphthalmia	ORPHA:2528
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Failure to thrive, Hypertrophic cardiomyopathy, Hyperlipidemia, Proteinuria, Abnormality of the k...	ORPHA:369
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperlipidemia, Hyper...	OMIM:235400
Glycogen Storage Disease V	Dark urine, Failure to elevate ammonia on ischemic exercise, Hyperuricemia, Elevated circulating ...	OMIM:232600
Cystinosis	Nephropathy, Aminoaciduria, Polydipsia, Failure to thrive, Renal insufficiency, Portal hypertensi...	ORPHA:213
Combined Oxidative Phosphorylation Deficiency 52	Aminoaciduria, Pancreatitis, Renal insufficiency, Lacticaciduria	OMIM:619386
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Abnormal bleeding, Bruising susceptibility, Ecchymosis, Prolonged prothrombin time, Ce...	OMIM:277450
Primary Angiitis Of The Central Nervous System	Stroke, Transient ischemic attack, Intracranial hemorrhage, Cerebral vasculitis	ORPHA:140989
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia	OMIM:617661
Phosphoglycerate Kinase 1 Deficiency	Exercise-induced myoglobinuria, Renal insufficiency	OMIM:300653
Nephronophthisis 19	Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid...	OMIM:616217
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Renal insufficiency	OMIM:173900
Methanol Poisoning	Inflammatory arteriopathy, Permanent atrial fibrillation, Cerebral hemorrhage, Intracranial hemor...	ORPHA:31825
Lymphatic Malformation 11	Pedal edema, Lymphedema	OMIM:619401
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Mesangial hypercellularity, Crescentic glomerulonephritis, Arthritis	OMIM:616414
Muckle-Wells Syndrome	Renal amyloidosis, Recurrent aphthous stomatitis, Renal insufficiency, Conjunctivitis, Maculopapu...	OMIM:191900
Adams-Oliver Syndrome 4	Umbilical hernia, Microphthalmia	OMIM:615297
Syndromic Recessive X-Linked Ichthyosis	Unilateral renal agenesis, Renal insufficiency	ORPHA:281090
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Chronic kidney disease, Acute kidney injury, Hypertrophic cardiomyopathy, Exercise-induced myoglo...	ORPHA:368
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Pediatric Systemic Lupus Erythematosus	Discoid lupus rash, Nephritis, Abnormality of the urinary system, Dark urine, Renal insufficiency...	ORPHA:93552
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy, Moyamoya phenomenon, Ischemic stroke, Coronary artery atherosclerosis, Ce...	ORPHA:280679
Nephrolithiasis, Calcium Oxalate, 1	Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr...	OMIM:167030
Laurence-Moon Syndrome	Hypoplasia of penis, Renal insufficiency, Displacement of the urethral meatus	ORPHA:2377
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydronephrosis, Hydroureter	OMIM:618240
Hypophosphatemic Rickets, X-Linked Recessive	Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole...	OMIM:300554
Juvenile Nephropathic Cystinosis	Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Hypophosphatemia, Aminoaciduria, P...	ORPHA:411634
Senior-Loken Syndrome 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis	OMIM:606995
6P22 Microdeletion Syndrome	Hydronephrosis	ORPHA:251046
Dural Sinus Malformation	Subdural hemorrhage, Abnormal facial vein morphology, Stroke, Subarachnoid hemorrhage, Cerebellar...	ORPHA:97339
Tyrosinemia, Type I	Nephrocalcinosis, Elevated urinary succinylacetone level, Renal insufficiency, Renal Fanconi synd...	OMIM:276700
Williams-Beuren Region Duplication Syndrome	Unilateral renal agenesis, Failure to thrive, Hydronephrosis, Attention deficit hyperactivity dis...	OMIM:609757
Telangiectasia, Hereditary Hemorrhagic, Type 4	Arteriovenous fistulas of celiac and mesenteric vessels, Spinal arteriovenous malformation, Right...	OMIM:610655
Simple Cryoglobulinemia	Nephritis, Viral hepatitis, Renal insufficiency, Mesangial hypercellularity, Proteinuria, Membran...	ORPHA:91139
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, Hydronephrosis, Albuminuria, Hypospadias, Renal cortical microcysts	OMIM:214100
Erythrocytosis, Familial, 2	Hypotension, Cerebral hemorrhage, Stroke, Pulmonary arterial hypertension, Varicose veins	OMIM:263400
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Proteinuria, Nephrotic syndrome, Mucopolysacchariduria	OMIM:215250
Amelogenesis Imperfecta, Type Ig	Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis	OMIM:204690
Hypomagnesemia 3, Renal	Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating...	OMIM:248250
Acquired Purpura Fulminans	Macular purpura, Shock, Internal hemorrhage, Prolonged prothrombin time, Intracranial hemorrhage	ORPHA:49566
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Acys Amyloidosis	Stroke, Cerebral hemorrhage	ORPHA:100008
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Recurrent urinary tract infect...	OMIM:248190
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Chronic kidney disease, Stage 5 chronic kidney disease, ...	ORPHA:94059
Plasminogen Deficiency, Type I	Conjunctivitis, Nephritis, Periodontitis, Nephrolithiasis	OMIM:217090
Polycythemia Vera	Budd-Chiari syndrome, Gastrointestinal hemorrhage, Cerebral ischemia, Cerebral hemorrhage	OMIM:263300
Ventriculomegaly With Cystic Kidney Disease	Renal corticomedullary cysts, Renal insufficiency, Tubular luminal dilatation, Hyperechogenic kid...	OMIM:219730
Transcobalamin Deficiency	Acute kidney injury, Methylmalonic aciduria	ORPHA:859
Diffuse Neonatal Hemangiomatosis	Renal insufficiency, Renal hypoplasia/aplasia	ORPHA:2123
Cryoglobulinemic Vasculitis	Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Keratoconjunctivitis sicca, Arthriti...	ORPHA:91138
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Joubert Syndrome 35	Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections	OMIM:618161
Endove Syndrome, Limb-Brain Type	Hydronephrosis, Neurogenic bladder, Failure to thrive, Recurrent urinary tract infections	OMIM:619218
Papa Syndrome	Crohn's disease, Proteinuria, Increased inflammatory response, Myositis, Pustule, Arthritis, Acne	ORPHA:69126
Amyloidosis, Finnish Type	Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic syndrome, Renal glom...	OMIM:105120
Familial Multiple Nevi Flammei	Arteriovenous malformation, Pulmonary embolism, Venous insufficiency, Arrhythmia, Intracranial he...	ORPHA:624
Fryns Microphthalmia Syndrome	Anophthalmia, Neural tube defect, Microphthalmia	OMIM:600776
Xeroderma Pigmentosum, Complementation Group G	Growth delay, Microphthalmia	OMIM:278780
Wolfram Syndrome, Mitochondrial Form	Hydronephrosis, Hydroureter	OMIM:598500
Orthostatic Hypotension 1	Hypomagnesemia, Orthostatic hypotension, Increased blood urea nitrogen, Nocturia, Elevated circul...	OMIM:223360
Heme Oxygenase 1 Deficiency	Hematuria, Nephritis, Proteinuria	OMIM:614034
Fanconi-Bickel Syndrome	Hypouricemia, Generalized aminoaciduria, Ketonuria, Failure to thrive, Beta 2-microglobulinuria, ...	OMIM:227810
Immunodeficiency 91 And Hyperinflammation	Recurrent pneumonia, Renal insufficiency, Membranoproliferative glomerulonephritis, Nephrotic syn...	OMIM:619644
Hyperuricemic Nephropathy, Familial Juvenile, 3	Abnormal renal insterstitial morphology, Renal insufficiency, Impaired renal concentrating ability	OMIM:614227
Erythrocytosis, Familial, 1	Hypertension, Myocardial infarction, Cerebral hemorrhage	OMIM:133100
Desmoid Tumor	Hydronephrosis, Abnormality of the upper urinary tract, Gastrointestinal hemorrhage	ORPHA:873
Dengue Fever	Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Bruising susceptibility, ...	ORPHA:99828
Prune Belly Syndrome	Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Abnormality of the...	ORPHA:2970
Atresia Of Urethra	Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency...	ORPHA:105
Renal Agenesis	Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins...	ORPHA:411709
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Hyperammonemia, Mitral regurgitatio...	OMIM:620300
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Nephropathy, Hypospadias, Renal insufficiency, Nephroblastoma	OMIM:194072
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Proteinuria, Renal artery stenosis	OMIM:209010
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate...	OMIM:120330
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Hydronephrosis, Vesicoureteral reflux, Decreased body weight	OMIM:618265
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron...	OMIM:613159
Dopamine Beta-Hydroxylase Deficiency	Orthostatic syncope, Elevated urinary dopamine level, Abnormal EKG, Elevated circulating creatini...	ORPHA:230
Hypomagnesemia 2, Renal	Hypocalciuria, Renal insufficiency, Renal magnesium wasting	OMIM:154020
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Hydronephrosis, Moderate albuminuria, Periodontitis	OMIM:619269
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Hyperphosphatemia, Decreased body weight, Hematuria, Glomerulonephritis, ...	ORPHA:340
Primary Hyperoxaluria Type 3	Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo...	ORPHA:93600
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency	ORPHA:3222
Myoglobinuria, Recurrent	Exercise-induced myoglobinuria, Recurrent myoglobinuria	OMIM:550500
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic root aneurysm, Abdominal aortic aneurysm, Carotid artery dilatation, Patent ductus arterio...	ORPHA:91387
Biemond Syndrome Type 2	Short stature, Delayed puberty, Microphthalmia	ORPHA:141333
Alg1-Cdg	Nephrotic syndrome, Renal insufficiency, Abnormality of the kidney	ORPHA:79327
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Predominantly dermal...	ORPHA:284426
Wild Type Attr Amyloidosis	Nephropathy, Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnorm...	ORPHA:330001
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insufficiency, Pr...	OMIM:614748
Familial Hyperaldosteronism Type Ii	Epistaxis, Intracranial hemorrhage, Hypertension	ORPHA:404
Leukoencephalopathy With Calcifications And Cysts	Stroke, Cerebral hemorrhage	ORPHA:542310
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Pancreatitis, Renal insufficiency, Renal tubular dysfunction	ORPHA:289916
Extracranial Carotid Artery Aneurysm	Vasculitis, Total anomalous pulmonary venous return, Arteritis, Atherosclerosis, Cerebral ischemi...	ORPHA:494424
Senior-Loken Syndrome 9	Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:616629
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Decreased circulating iron concentration, Acute kidney injury, Pulmonary ...	ORPHA:447
Nephronophthisis 11	Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal...	OMIM:613550
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Renal insufficiency, Multiple...	OMIM:613095
Familial Hyperaldosteronism Type I	Epistaxis, Intracranial hemorrhage, Hypertension	ORPHA:403
Bor Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ...	ORPHA:107
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Red-brown urine, Cardiomyopathy, Decreased plas...	ORPHA:157
Isolated Permanent Neonatal Diabetes Mellitus	Moderate albuminuria, Ketonuria, Glycosuria, Renal tubular dysfunction, Abnormality of the upper ...	ORPHA:99885
Hypocomplementemic Urticarial Vasculitis	Renal insufficiency, Episcleritis, Skin rash, Hematuria, Proteinuria, Glomerulopathy, Arthritis, ...	ORPHA:36412
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hydronephrosis	OMIM:619797
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia	OMIM:218670
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Short stature, Intrauterine growth retardation, Microphthalmia	OMIM:616171
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Red-brown urine, Cardiomyopathy, Dicarboxylic a...	ORPHA:228308
Fliedner-Zweier Syndrome	Self-injurious behavior, Unilateral renal agenesis, Multicystic kidney dysplasia, Obesity, Hydron...	OMIM:620511
Genetic Recurrent Myoglobinuria	Acute kidney injury, Oliguria, Exercise-induced myoglobinuria, Dark urine, Renal insufficiency, M...	ORPHA:99845
Drug Reaction With Eosinophilia And Systemic Symptoms	Hepatitis, Renal insufficiency, Skin rash, Interstitial pneumonitis, Infectious encephalitis, Pus...	ORPHA:139402
Systemic Capillary Leak Syndrome	Oliguria, Renal insufficiency, Abnormal renal tubule morphology, Pancreatitis, Myocarditis, Peric...	ORPHA:188
Abeta Amyloidosis, Dutch Type	Stroke, Cerebral hemorrhage	ORPHA:100006
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Weight loss	ORPHA:100024
Free Sialic Acid Storage Disease	Failure to thrive in infancy, Nephrotic syndrome, Proteinuria	ORPHA:834
Acquired Aneurysmal Subarachnoid Hemorrhage	Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, Abnormal cerebral artery...	ORPHA:90065
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr...	OMIM:171420
Goodpasture Syndrome	Glomerular crescent formation, Erythrocyte cylindruria, Pulmonary hemorrhage, Renal insufficiency...	OMIM:233450
Lysinuric Protein Intolerance	Increased LDL cholesterol concentration, Hyperglycinemia, Oral aversion, Glomerulonephritis, Tubu...	ORPHA:470
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage	ORPHA:398189
Microscopic Polyangiitis	Uveitis, Oliguria, Renal insufficiency, Episcleritis, Skin rash, Hematuria, Increased inflammator...	ORPHA:727
Xk Aprosencephaly Syndrome	Polyhydramnios, Microphthalmia	ORPHA:3469
Hyperprolinemia Type 2	Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Hydroxyprolinuria, Prolin...	ORPHA:79101
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Failure to thrive, Hyperammonemia, Hydronephrosis, Decreased serum zinc, Duplica...	OMIM:617093
Primary Fanconi Renotubular Syndrome	Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Decreased circulating carnitine co...	ORPHA:3337
22Q11.2 Duplication Syndrome	Displacement of the urethral meatus, Hydronephrosis, Attention deficit hyperactivity disorder, Co...	ORPHA:1727
Microphthalmia, Isolated 5	Cystoid macular edema, Microphthalmia	OMIM:611040
Brain Malformations With Or Without Urinary Tract Defects	Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux, Failure to thrive	OMIM:613735
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Chronic kidney disease, Renal tubular acidosis, 3-Methylglutaconic aciduria	ORPHA:324525
Fetal Gaucher Disease	Intracranial hemorrhage, Stillbirth, Neonatal death	ORPHA:85212
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Abnormal vascular...	ORPHA:464321
Rhyns Syndrome	Chronic kidney disease, Nephronophthisis, Renal insufficiency	OMIM:602152
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration, Pulmonary venous hypertension, Hematuria, Proteinu...	ORPHA:90060
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Severe Acute Respiratory Syndrome	Acute kidney injury, Acute infectious pneumonia	ORPHA:140896
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Polydipsia, Failure to thrive, Low-molecul...	ORPHA:18
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Glycosuria, Large for gestational age, Hypophosphatemic rickets, Increased body weight, Proteinur...	ORPHA:263455
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:713
Cofs Syndrome	Short stature, Intrauterine growth retardation, Microphthalmia	ORPHA:1466
Primary Hyperoxaluria Type 1	Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r...	ORPHA:93598
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Epistaxis, Intracranial hemorrhage, Hypertension	ORPHA:251274
Dyschondrosteosis-Nephritis Syndrome	Nephropathy, Proteinuria, Hematuria	ORPHA:1765
Dihydropyrimidine Dehydrogenase Deficiency	Growth delay, Microphthalmia	OMIM:274270
Glucose-Galactose Malabsorption	Hematuria, Renal insufficiency, Nephrolithiasis	ORPHA:35710
Humeroradial Synostosis	Renal insufficiency	OMIM:236400
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Chronic kidney disease, Failure to thrive in infancy, Decreased glomerular filtration rate, Prote...	ORPHA:488627
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Medial calc...	OMIM:177850
Tetraploidy	Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:3305
Fanconi Anemia, Complementation Group G	Growth delay, Microphthalmia	OMIM:614082
Apparent Mineralocorticoid Excess	Abnormal urine sodium concentration, Nephrocalcinosis, Renal insufficiency	ORPHA:320
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Short stature, Microphthalmia	OMIM:610023
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Renal cyst, Tu...	OMIM:263200
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Proteinuria, Tubulointerstitial nephritis	OMIM:616901
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Dilated cardiomyopathy, Renal dysplasia, Increased total bilirubin, Elevated circulating creatini...	OMIM:608836
Enamel-Renal Syndrome	Nephropathy, Nephrocalcinosis, Hypocalciuria, Hypophosphaturia, Renal insufficiency, Impaired ren...	ORPHA:1031
Majeed Syndrome	Acne, Inflammatory abnormality of the skin, Osteomyelitis, Proteinuria, Synovitis, Glomerulopathy...	ORPHA:77297
Microphthalmia, Syndromic 13	Short stature, Microphthalmia	OMIM:300915
Non-Functioning Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:94080
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria, Cachexia	ORPHA:2774
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Weight loss, Dysphagi...	OMIM:219800
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Frontal encephalocele, Microphthalmia	ORPHA:1528
Proximal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Polydipsia, Failure to thrive, Glycosuria, Hypernatriuria, Low-m...	ORPHA:47159
Cockayne Syndrome Type 1	Failure to thrive, Renal insufficiency, Proteinuria, Increased blood urea nitrogen, Hypertension	ORPHA:90321
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Aortic regurgitation, Subcutaneous hemorrhage, Pulmonary hemorrhage, Proteinuria	OMIM:603585
Congenital Toxoplasmosis	Ascites, Intrauterine growth retardation, Microphthalmia	ORPHA:858
Prune Belly Syndrome	Hydronephrosis, Hydroureter, Congenital posterior urethral valve	OMIM:100100
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolithiasis, Parath...	OMIM:600740
Igg4-Related Aortitis	Elevated circulating C-reactive protein concentration, Weight loss, Hydronephrosis	ORPHA:449400
Joubert Syndrome 37	Hydronephrosis, Obesity, Micropenis	OMIM:619185
Nephrogenic Diabetes Insipidus	Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Renal insufficiency, Hypos...	ORPHA:223
Babesiosis	Renal insufficiency	ORPHA:108
Lethal Congenital Contracture Syndrome 2	Hydronephrosis, Dilated cardiomyopathy	OMIM:607598
Distal Duplication 6P	Hydronephrosis, Renal hypoplasia, Abnormality of the urinary system	ORPHA:1745
Birk-Landau-Perez Syndrome	Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Renal insufficiency, Tu...	OMIM:617595
Mmep Syndrome	Microphthalmia	ORPHA:3434
Wolfram Syndrome 1	Hydroureter, Cardiomyopathy, Hydronephrosis, Neurogenic bladder, Dysphagia	OMIM:222300
Caudal Regression Syndrome	Renal agenesis, Abnormality of the ureter, Renal insufficiency, Vesicoureteral reflux, Ureteral d...	ORPHA:3027
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Joubert Syndrome 7	Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:611560
Severe Oculo-Renal-Cerebellar Syndrome	Proteinuria, Glomerulopathy, Renal insufficiency	ORPHA:2715
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis	OMIM:602418
Autoimmune Lymphoproliferative Syndrome, Type Iii	Recurrent urinary tract infections, Recurrent otitis media, Stage 5 chronic kidney disease, Recur...	OMIM:615559
Webb-Dattani Syndrome	Obesity, Vesicoureteral reflux, Hydronephrosis, Neurogenic bladder, Hyposthenuria, Hypernatremia	OMIM:615926
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Failure to thrive, Cong...	OMIM:609015
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Moyamoya phenomenon, Stroke-li...	OMIM:300845
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Pancreatitis, Renal insufficiency	ORPHA:79312
Recombinant Chromosome 8 Syndrome	Hydronephrosis, Pulmonic stenosis	OMIM:179613
Eosinophilic Granulomatosis With Polyangiitis	Vasculitis, Recurrent intrapulmonary hemorrhage, Hypertrophic cardiomyopathy, Congestive heart fa...	ORPHA:183
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Renal cyst, Renal dysplasia	OMIM:614922
Distal Limb Deficiencies-Micrognathia Syndrome	Proteinuria, Renal hypoplasia, Renal insufficiency	ORPHA:1307
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis	OMIM:618060
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Homocystinuria, Acute kidney injury, Cystathioninemia, Hypotension, Failure to thriv...	OMIM:277400
Malignant Hyperthermia, Susceptibility To, 1	Hypotension, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Myoglobinuria...	OMIM:145600
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Chronic kidney disease, Renal insufficiency, Abnormal renal glomerulus morphology, Membranoprolif...	OMIM:137940
Lymphedema-Hypoparathyroidism Syndrome	Nephropathy, Renal insufficiency	OMIM:247410
Meckel Syndrome, Type 8	Occipital encephalocele, Encephalocele, Anophthalmia, Microphthalmia, Pericardial effusion	OMIM:613885
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Abnormal T-wave, Palpitations, Intracranial hemorrhage, Hypertension	ORPHA:231625
X-Linked Intellectual Disability Due To Gria3 Mutations	Slender build, Self-mutilation, Hydronephrosis, Aggressive behavior, Micropenis	ORPHA:364028
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Hydronephrosis, Failure to thrive	ORPHA:488613
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Hydronephrosis, Unilateral renal agenesis, Renal hypoplasia, Dysphagia	OMIM:618494
Wagro Syndrome	Obesity, Nephroblastoma, Proteinuria, Polyphagia, Aggressive behavior, Compulsive behaviors, Hype...	OMIM:612469
2Q24 Microdeletion Syndrome	Growth delay, Microphthalmia	ORPHA:1617
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Gastroin...	OMIM:187300
Liddle Syndrome 1	Renal insufficiency	OMIM:177200
Lymphedema-Distichiasis Syndrome	Recurrent urinary tract infections, Renal duplication, Proteinuria, Glomerulopathy, Tubulointerst...	ORPHA:33001
Scrub Typhus	Renal insufficiency, Skin rash, Infectious encephalitis, Myocarditis, Anterior uveitis	ORPHA:83317
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Hypocalcemia, Hypokalem...	OMIM:617913
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydronephrosis, Neonatal death, Hydroureter, Fetal megacystis	OMIM:619362
Melas	Nephropathy, Focal segmental glomerulosclerosis, Proximal tubulopathy, Proteinuria, Recurrent pan...	ORPHA:550
Pseudo-Torch Syndrome 3	Acute kidney injury, Increased circulating ferritin concentration, Proteinuria, Cerebral hemorrha...	OMIM:618886
Pheochromocytoma	Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,...	OMIM:171300
Endove Syndrome, Limb-Only Type	Hydronephrosis, Vesicoureteral reflux	OMIM:619217
Feingold Syndrome Type 1	Nephritis, Horseshoe kidney, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Abnormal...	ORPHA:391641
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Aminoaciduria, Glycosuria, Failure to thrive, Hypertrophic cardiomyopathy, Hyperphosphaturia, Ren...	ORPHA:436271
Glycogen Storage Disease Due To Aldolase A Deficiency	Acute kidney injury, Myoglobinuria, Arrhythmia, Hyperkalemia, Elevated creatine kinase after exer...	ORPHA:57
Tempi Syndrome	Telangiectasia, Intracranial hemorrhage	ORPHA:284227
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Inflammatory abnormality of...	ORPHA:95455
Hand-Foot-Genital Syndrome	Pyelonephritis, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction obstruction, C...	OMIM:140000
Vitamin B12-Unresponsive Methylmalonic Acidemia	Pancreatitis, Renal insufficiency	ORPHA:27
Lymphatic Malformation 8	Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion	OMIM:618773
Hartsfield Syndrome	Intrauterine growth retardation, Encephalocele, Microphthalmia	ORPHA:2117
Deafness-Lymphedema-Leukemia Syndrome	Intracranial hemorrhage, Bruising susceptibility, Prolonged bleeding time	ORPHA:3226
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephrotic syndrome, Malar rash, Nephritis	OMIM:603909
Suleiman-El-Hattab Syndrome	Hydronephrosis, Failure to thrive	OMIM:618950
Becker Muscular Dystrophy	Myoglobinuria, Abnormal urinary color, Elevated circulating creatine kinase concentration	ORPHA:98895
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Intellectual Developmental Disorder, X-Linked 112	Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelonephritis, Ve...	OMIM:301111
Telangiectasia, Hereditary Hemorrhagic, Type 2	Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Facial telangiectasia, Cerebral art...	OMIM:600376
Isovaleric Acidemia	Cerebellar hemorrhage	OMIM:243500
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Elevated systolic blood pressure, Hypernatriuria, Decreased circulating renin level, Hyponatremia...	OMIM:300539
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Nephritis, Renal insufficiency, Proteinuria, Renal cyst	OMIM:208500
Legionnaires Disease	Hepatitis, Renal insufficiency, Infectious encephalitis, Hematuria, Proteinuria, Pancreatitis, My...	ORPHA:549
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Proteinuria, Microscopic hematuria, Renal insufficiency, Glomerulopathy	ORPHA:86818
Pulmonary Edema Of Mountaineers, Susceptibility To	Pulmonary edema, Edema	OMIM:178400
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Failure to thrive, Renal insufficiency, Hyperalaninemia, Increased serum pyruvate, Small for gest...	OMIM:619147
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal hypoplasia, Renal insufficiency, Hypoplasia of penis, Renal dysplasia	ORPHA:85321
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Renal insufficiency, Incr...	OMIM:613090
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Microphthalmia	ORPHA:324416
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Renal insuff...	ORPHA:93111
Bardet-Biedl Syndrome 12	Hydronephrosis, Obesity, Hydroureter, Cystic renal dysplasia	OMIM:615989
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Renal insufficiency, Ureterocele, Renal hypoplasia/aplasia	ORPHA:261265
Autoerythrocyte Sensitization Syndrome	Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Ecchymo...	ORPHA:324636
Senior-Boichis Syndrome	Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Hyperechoge...	ORPHA:84081
Variant Abeta2M Amyloidosis	Chronic kidney disease, Renal amyloidosis	ORPHA:314652
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria, Neonatal death	OMIM:602199
Gitelman Syndrome	Focal segmental glomerulosclerosis, Enuresis, Gout, Renal tubular acidosis, Proteinuria, Hashimot...	ORPHA:358
Lymphatic Filariasis	Urethral obstruction, Lymphadenitis, Orchitis, Hematuria, Proteinuria, Knee osteoarthritis, Glome...	ORPHA:2035
3-Methylglutaconic Aciduria Type 7	Renal cyst, Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria	ORPHA:445038
Renal Hypodysplasia/Aplasia 1	Proteinuria, Bilateral renal agenesis, Renal dysplasia	OMIM:191830
Netherton Syndrome	Aminoaciduria, Hydronephrosis, Ectopic kidney	ORPHA:634
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Vesicoureteral reflux, Elevated circulating creatine kinase concent...	OMIM:301056
Ddost-Cdg	Nephrotic range proteinuria, Failure to thrive	ORPHA:300536
Congenital Disorder Of Glycosylation, Type Iiaa	Persistent patent ductus venosus, Unilateral renal agenesis, Hyperammonemia, Hydronephrosis, Hype...	OMIM:620454
Microcephaly 26, Primary, Autosomal Dominant	Hydronephrosis, Failure to thrive, Stereotypical hand wringing	OMIM:619179
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Dilat...	ORPHA:71212
Microphthalmia/Coloboma 12	Optic nerve aplasia, Chorioretinal coloboma, Optic disc coloboma, Remnants of the hyaloid vascula...	OMIM:120200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Toluene Embryopathy	Hydronephrosis, Abnormal localization of kidney	ORPHA:1920
Neuraminidase Deficiency	Proteinuria, Cardiomyopathy, Increased urinary O-linked sialopeptides, Urinary excretion of sialy...	OMIM:256550
Kury-Isidor Syndrome	Hydronephrosis, Attention deficit hyperactivity disorder	OMIM:619762
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Hydronephrosis	OMIM:300048
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis	Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis	OMIM:620374
Ritscher-Schinzel Syndrome 1	Hydronephrosis, Aortic valve stenosis, Hypospadias, Pulmonic stenosis	OMIM:220210
Tetrasomy 15Q26	Horseshoe kidney, Hydronephrosis	OMIM:614846
Nail-Patella Syndrome	Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Renal insuffic...	ORPHA:2614
Lamellar Ichthyosis	Chronic otitis media, Renal insufficiency, Erythroderma	ORPHA:313
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Red-brown urine, Cardiomyopathy, Decreased plas...	ORPHA:228305
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Second degree atrioventricular block, Pulmonary arterial hypertension, Intracranial he...	ORPHA:369929
Alagille Syndrome 1	Focal segmental glomerulosclerosis, Renal hypoplasia, Multiple small medullary renal cysts, Renal...	OMIM:118450
Pseudo-Torch Syndrome 2	Cerebral hemorrhage, Patent ductus arteriosus, Petechiae, Bradycardia	OMIM:617397
Infantile Nephropathic Cystinosis	Aminoaciduria, Polydipsia, Failure to thrive, Glycosuria, Low-molecular-weight proteinuria, Hyper...	ORPHA:411629
Diabetic Embryopathy	Hydronephrosis, Ureteral duplication, Micropenis, Renal hypoplasia/aplasia	ORPHA:1926
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Hydronephrosis, Micropenis, Hypospadias, Small for gestational age	OMIM:616897
Fabry Disease	Lipiduria, Congestive heart failure, Transient ischemic attack, Renal insufficiency, Proteinuria,...	OMIM:301500
Bardet-Biedl Syndrome 9	Renal insufficiency	OMIM:615986
Kleefstra Syndrome	Self-injurious behavior, Obesity, Vesicoureteral reflux, Renal insufficiency, Self-mutilation, Hy...	ORPHA:261494
Boutonneuse Fever	Maculopapular exanthema, Renal insufficiency, Skin rash	ORPHA:83313
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Glycosuria, Failure to thrive, Hypertrophic cardiomyopathy, Hyperphosphaturia, Ren...	OMIM:220110
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Punctate vasculitis skin lesions, Hematuria, Proteinuria, Telangiect...	OMIM:192315
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Exercise-induced myoglobinuria, Highly elevated creatine kinase	ORPHA:352479
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hydronephrosis, Hypoplasia of penis	ORPHA:2083
Lethal Congenital Contracture Syndrome 5	Retinal hemorrhage, Subdural hemorrhage	OMIM:615368
ERI1-related disease	Failure to thrive, Tricuspid regurgitation, Vesicoureteral reflux, Decreased body weight, Hydrone...	OMIM:608739
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hydronephrosis, Urethral atresia, Enlarged kidney, Neonatal death	OMIM:314390
Helix Syndrome	Hypocalciuria, Renal insufficiency, Polyuria, Nephrolithiasis	OMIM:617671
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria, Cardiomyopathy, Elevated circulating creatine kinase concentration	ORPHA:119
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Dahlberg-Borer-Newcomer Syndrome	Nephropathy, Renal insufficiency	ORPHA:1563
Noonan Syndrome 4	Abnormal bleeding, Bruising susceptibility, Hypertrophic cardiomyopathy, Large for gestational ag...	OMIM:610733
Joubert Syndrome 22	Intrauterine growth retardation, Microphthalmia	OMIM:615665
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Myoglobinuria, Arrhythmia, Urinary incontinence, Tachycardia, Hyperkalemia, Dy...	ORPHA:94093
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Stage 5 chronic kidney disease	OMIM:613819
Distal Triplication 15Q	Dilatation of the renal pelvis, Horseshoe kidney, Large for gestational age, Nephroblastoma, Hydr...	ORPHA:314588
Axial Mesodermal Dysplasia Spectrum	Abnormality of the urinary system, Abnormality of the ureter, Renal hypoplasia/aplasia, Hydroneph...	ORPHA:1834
Immunoglobulin A Vasculitis	Renal insufficiency, Episcleritis, Skin rash, Infectious encephalitis, Hematuria, Proteinuria, Gl...	ORPHA:761
Holoprosencephaly-Caudal Dysgenesis Syndrome	Renal insufficiency	ORPHA:2165
Cocaine Intoxication	Acute kidney injury, Diffuse alveolar hemorrhage, Hypotension, Ventricular arrhythmia, Prolonged ...	ORPHA:90068
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Nephronophthisis	OMIM:615630
Bacterial Toxic-Shock Syndrome	Pneumonia, Hepatitis, Recurrent urinary tract infections, Fasciitis, Osteomyelitis, Renal insuffi...	ORPHA:36234
Johanson-Blizzard Syndrome	Failure to thrive, Hydronephrosis, Hypoplasia of penis, Hypospadias, Hypoproteinemia	ORPHA:2315
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Hereditary Hemorrhagic Telangiectasia	Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Retinal telangiectasia, ...	ORPHA:774
Glycogen Storage Disease Vii	Increased total bilirubin, Exercise-induced myoglobinuria, Hyperuricemia, Elevated circulating cr...	OMIM:232800
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Hyperechogenic kidneys, Elevated circulating creatinine concentration, Reduced haptoglobin level,...	OMIM:301110
Microphthalmia, Syndromic 12	Anophthalmia, Microphthalmia	OMIM:615524
Oculocerebrocutaneous Syndrome	Orbital encephalocele, Anophthalmia, Microphthalmia	OMIM:164180
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Short stature, Intrauterine growth retardation, Microphthalmia	ORPHA:48431
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating creatine kinas...	OMIM:620138
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Displacement of the urethr...	ORPHA:2973
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Junctional Epidermolysis Bullosa With Pyloric Atresia	Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Renal duplication, Hematuria, ...	ORPHA:79403
Al-Gazali Syndrome	Hydronephrosis, Failure to thrive	OMIM:609465
Malakoplakia	Inflammatory abnormality of the skin, Urinary bladder inflammation, Urinary hesitancy, Skin rash,...	ORPHA:556
Relapsing Polychondritis	Uveitis, Keratitis, Hepatitis, Recurrent aphthous stomatitis, Chondritis, Renal insufficiency, Ep...	ORPHA:728
Renal Nutcracker Syndrome	Renal artery stenosis, Hematuria, Proteinuria, Weight loss, Syncope, Orthostatic hypotension, Tac...	ORPHA:71273
Stormorken Syndrome	Epistaxis, Abnormal bleeding, Bruising susceptibility, Stroke-like episode, Subarachnoid hemorrhage	OMIM:185070
Sjogren Syndrome	Tubulointerstitial nephritis, Rheumatoid arthritis, Keratoconjunctivitis sicca	OMIM:270150
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Joubert Syndrome 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:608629
Lymphangiectasia, Pulmonary, Congenital	Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Mild postnatal growth re...	OMIM:265300
Granulomatosis With Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Ureteral stenosis, Recurrent intrapulmonary h...	ORPHA:900
Trisomy 13	Hydronephrosis, Abnormality of the ureter, Multiple renal cysts, Displacement of the urethral meatus	ORPHA:3378
Primary Hyperoxaluria	Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Stage 5 chronic kid...	ORPHA:416
Microsporidiosis	Pneumonia, Nephritis, Lymphadenitis, Hepatitis, Keratitis, Urethritis, Osteomyelitis, Abnormality...	ORPHA:2552
Hyperoxaluria, Primary, Type I	Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Elevated urinary glycolic acid l...	OMIM:259900
Osteootohepatoenteric Syndrome	Failure to thrive, Increased serum bile acid concentration, Hypokalemia, Grade II vesicoureteral ...	OMIM:619377
1P31P32 Microdeletion Syndrome	Moyamoya phenomenon, Intraventricular hemorrhage	ORPHA:401986
Menkes Disease	Intracranial hemorrhage	OMIM:309400
9Q21.13 Microdeletion Syndrome	Hydronephrosis	ORPHA:531151
Congenital Disorder Of Glycosylation, Type Iiw	Recurrent otitis media, Moderate albuminuria, Microscopic hematuria, Membranoproliferative glomer...	OMIM:619525
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Trisomy 17P	Aortic valve stenosis, Hydronephrosis, Hypoplasia of penis, Urethral valve, Polycystic kidney dys...	ORPHA:261290
Joubert Syndrome 9	Stage 5 chronic kidney disease	OMIM:612285
Tarp Syndrome	Failure to thrive, Subdural hemorrhage, Horseshoe kidney, Neonatal death, Hydronephrosis	OMIM:311900
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Short stature, Microphthalmia	OMIM:251270
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Polyhydramnios, Microphthalmia	ORPHA:2547
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Nephropathy, Chronic kidney disease, Failure to thrive, Stage 5 chronic kidney disease, Hematuria...	ORPHA:1018
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Decreased circulating carnitine concentration, Dicarboxylic aciduria, Hypertrophic cardiomyopathy...	OMIM:201475
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Epistaxis, Nephrocalcinosis, Abnormal bleeding, Failure to thrive, Bruising susceptibility, Stage...	ORPHA:79259
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating acylcarnitine concentration, Ketonuria, Oral-pharyngeal dysphagia, Torsade d...	OMIM:616878
Glycogen Storage Disease Ixd	Exercise-induced myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:300559
Postinfectious Vasculitis	Palpable purpura, Cerebral vasculitis, Elevated haptoglobin level, Cardiomyopathy, Ischemic strok...	ORPHA:48435
Hypophosphatasia, Infantile	Intracranial hemorrhage, Stillbirth	OMIM:241500
Rhizomelic Limb Shortening With Dysmorphic Features	Stage 1 chronic kidney disease	OMIM:618821
Nail-Patella Syndrome	Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Nephrotic syndrome	OMIM:161200
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydronephrosis, Portal hypertension, Hydroureter, Megacystis	OMIM:619431
Donnai-Barrow Syndrome	Proteinuria	ORPHA:2143
Acyl-Coa Dehydrogenase 9 Deficiency	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Cerebellar hemorrh...	ORPHA:99901
Aspergillosis	Stroke, Intracranial hemorrhage	ORPHA:1163
Meckel Syndrome, Type 2	Intrauterine growth retardation, Encephalocele, Microphthalmia, Meningocele, Anencephaly	OMIM:603194
Arima Syndrome	Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R...	OMIM:243910
Paroxysmal Cold Hemoglobinuria	Hemoglobinuria, Abnormal urinary color	ORPHA:90035
Galloway-Mowat Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:2065
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Xfe Progeroid Syndrome	Hypoalbuminemia, Failure to thrive, Renal insufficiency, Proteinuria, Cachexia, Hypertension	OMIM:610965
Isolated Sedoheptulokinase Deficiency	Abnormal renal tubule morphology, Renal insufficiency, Hepatitis	ORPHA:440713
17Q12 Microduplication Syndrome	Polyhydramnios, Microphthalmia	ORPHA:261272
Mesomelia-Synostoses Syndrome	Hydronephrosis	ORPHA:2496
Meningococcal Meningitis	Renal insufficiency, Skin rash, Infectious encephalitis	ORPHA:33475
Hellp Syndrome	Acute kidney injury, Hypotension, Increased body weight, Proteinuria, Internal hemorrhage, Prolon...	ORPHA:244242
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Peritonitis, Fetal megacystis	OMIM:619351
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Proximal tubulopathy, Failure to thrive, Cardiomyopathy, Hypocholesterolemia, Pr...	OMIM:212065
Wiskott-Aldrich Syndrome	Gingival bleeding, Vasculitis, Hematochezia, Epistaxis, Bruising susceptibility, Spontaneous hema...	ORPHA:906
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy, Myoglobinuria, Dilated cardiomyopathy, Dicarboxylic aciduria	OMIM:231530
Zellweger Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Hypospadias, Failure to thrive	ORPHA:912
Parkes Weber Syndrome	Arteriovenous malformation, Abnormal bleeding, Vascular tortuosity, Venous malformation, Spinal a...	ORPHA:90307
Congenital Disorder Of Glycosylation, Type Iig	Failure to thrive in infancy, Renal insufficiency, Hydronephrosis, Hypospadias, Hemolytic-uremic ...	OMIM:611209
Warburg Micro Syndrome 1	Short stature, Microphthalmia	OMIM:600118
Generalized Pustular Psoriasis	Renal insufficiency, Palmoplantar pustulosis, Pustule, Erythroderma, Arthritis, Cheilitis, Uveitis	ORPHA:247353
Bardet-Biedl Syndrome 17	Micropenis, Renal cyst, Stage 5 chronic kidney disease, Polyuria	OMIM:615994
Neurocutaneous Melanocytosis	Intracranial hemorrhage	ORPHA:2481
Microphthalmia, Lenz Type	Self-injurious behavior, Hydroureter, Renal hypoplasia/aplasia, Hydronephrosis, Hypospadias	ORPHA:568
Zaki Syndrome	Hydronephrosis, Renal agenesis	OMIM:619648
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Psoriasiform dermatitis, Vesicoureteral reflux, Renal insufficiency, H...	ORPHA:2237
Pierpont Syndrome	Short stature, Microphthalmia	OMIM:602342
Koolen-De Vries Syndrome	Vesicoureteral reflux, Overfriendliness, Renal duplication, Hydronephrosis, Ureteral duplication,...	ORPHA:96169
Propionic Acidemia	Cerebellar hemorrhage, Cardiomyopathy	OMIM:606054
Scalp-Ear-Nipple Syndrome	Duplication of renal pelvis, Recurrent urinary tract infections, Pyelonephritis, Abnormality of t...	ORPHA:2036
Czeizel-Losonci Syndrome	Ureteral agenesis, Congenital megaureter, Abnormality of the urinary system, Hydronephrosis	ORPHA:2437
Vacterl/Vater Association	Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Hydronephrosis, Ectopic...	ORPHA:887
Congenital Rubella Syndrome	Short stature, Intrauterine growth retardation, Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:290
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria	OMIM:615399
2P15P16.1 Microdeletion Syndrome	Aortic regurgitation, Multicystic kidney dysplasia, Failure to thrive, Mitral regurgitation, Hydr...	ORPHA:261349
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Intrauterine growth retardation, Oligohydramnios, Encephalocele, Microphthalmia	ORPHA:228390
Joubert Syndrome 6	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:610688
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Short stature, Intrauterine growth retardation, Rhizomelia, Microphthalmia	OMIM:300863
Cerebrooculofacioskeletal Syndrome 2	Intrauterine growth retardation, Growth delay, Microphthalmia	OMIM:610756
Mckusick-Kaufman Syndrome	Multicystic kidney dysplasia, Failure to thrive, Glandular hypospadias, Renal hypoplasia/aplasia,...	ORPHA:2473
Fabry Disease	Nephropathy, Mitral regurgitation, Hematuria, Arrhythmia, Anorexia, Nephrotic syndrome, Hypertrop...	ORPHA:324
Khan-Khan-Katsanis Syndrome	Renal hypoplasia, Failure to thrive, Tricuspid regurgitation, Vesicoureteral reflux, Hydronephros...	OMIM:618460
Trisomy 1Q	Congenital megaureter, Multicystic kidney dysplasia, Hydronephrosis	ORPHA:261344
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria, Hyperbilirubinemia	OMIM:266120
Severe Generalized Junctional Epidermolysis Bullosa	Multicystic kidney dysplasia, Dilated cardiomyopathy, Hydroureter, Failure to thrive, Ureterocele...	ORPHA:79404
Chondrodysplasia Punctata 2, X-Linked Dominant	Hydronephrosis, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Failure to thrive	OMIM:302960
Pyomyositis	Myositis, Renal insufficiency, Recurrent cutaneous abscess formation	ORPHA:764
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Lissencephaly 8	Occipital encephalocele, Microphthalmia	OMIM:617255
Maternal Uniparental Disomy Of Chromosome 2	Chordee, Hypospadias, Renal dysplasia, Renal insufficiency	ORPHA:96179
Diffuse Cutaneous Systemic Sclerosis	Oliguria, Renal insufficiency, Arthritis	ORPHA:220393
Koolen-De Vries Syndrome	Failure to thrive, Recurrent urinary tract infections, Vesicoureteral reflux, Hydronephrosis, Pul...	OMIM:610443
Intellectual Disability, Buenos-Aires Type	Hydronephrosis	ORPHA:3079
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hydronephrosis, Duplicated collecting system, Decreased serum zinc	ORPHA:541423
Cerebral Visual Impairment	Intracranial hemorrhage, Ischemic stroke	ORPHA:447788
Marden-Walker Syndrome	Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro...	ORPHA:2461
Erdheim-Chester Disease	Polydipsia, Congestive heart failure, Renal insufficiency, Hydronephrosis, Weight loss, Dysuria	ORPHA:35687
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Proteinuria, Heart murmur, Multiple bladder diverticula	ORPHA:2728
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Hyperbilirubinemia, Mild proteinuria, Increased serum bile acid concentration	OMIM:619685
Familial Mediterranean Fever	Nephropathy, Nephrocalcinosis, Erysipelas, Skin rash, Orchitis, Proteinuria, Peritonitis, Pancrea...	ORPHA:342
Tubulointerstitial Nephritis And Uveitis Syndrome	Aminoaciduria, Beta 2-microglobulinuria, Sterile pyuria, Elevated circulating creatinine concentr...	ORPHA:91500
Chromosome 2P16.1-P15 Deletion Syndrome	Hydronephrosis, Attention deficit hyperactivity disorder, Micropenis	OMIM:612513
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Hydronephrosis	OMIM:620327
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Aortic regurgitation, Failure to t...	ORPHA:464311
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Moderate albuminuria	OMIM:614231
Oculogastrointestinal Neurodevelopmental Syndrome	Short stature, Unilateral microphthalmos, Bilateral microphthalmos	OMIM:619318
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Subdural hemorrhage	OMIM:618291
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Congestive heart failure, Hypertrophic cardiomyopathy, Heparan sulfate excretion...	ORPHA:505248
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Increased circulating ferritin concentration, Proteinur...	ORPHA:829
Congenital Disorder Of Glycosylation, Type It	Aborted sudden cardiac death, Dilated cardiomyopathy, Elevated circulating creatine kinase concen...	OMIM:614921
Phosphoribosylpyrophosphate Synthetase Superactivity	Urolithiasis, Renal insufficiency, Gout, Hyperuricosuria, Uric acid nephrolithiasis, Hypospadias	OMIM:300661
Melnick-Needles Syndrome	Hydronephrosis, Vesicoureteral reflux	ORPHA:2484
Branchio-Oculo-Facial Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Renal agenesis	ORPHA:1297
Ethylene Glycol Poisoning	Renal insufficiency, Renal tubular dysfunction, Hematuria, Gastritis, Decreased urine output, Ren...	ORPHA:31826
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Pustule, Eosinophilic dermal i...	ORPHA:293173
Ileal Neuroendocrine Tumor	Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Palpitations, Hydr...	ORPHA:100078
Acute Intermittent Porphyria	Urinary retention, Dark urine, Increased urinary porphobilinogen, Renal insufficiency, Porphyrinu...	ORPHA:79276
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Renal insufficiency, Ectopic kidney	ORPHA:140952
Visceral Myopathy 1	Urinary retention, Megacystis, Vesicoureteral reflux, Hydronephrosis, Dysphagia	OMIM:155310
Baller-Gerold Syndrome	Failure to thrive in infancy, Abnormality of the ureter, Vesicoureteral reflux, Hydronephrosis, A...	ORPHA:1225
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria	OMIM:268315
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria	OMIM:612300
Bartter Syndrome Type 4	Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Stage 5 chronic kidney disease, In...	ORPHA:89938
Mirage Syndrome	Intracranial hemorrhage, Petechiae, Patent ductus arteriosus	OMIM:617053
Congenital Disorder Of Glycosylation, Type Iie	Failure to thrive, Congestive heart failure, Elevated circulating creatine kinase concentration, ...	OMIM:608779
3C Syndrome	Aortic valve stenosis, Hydronephrosis, Hypoplasia of penis, Hypospadias, Pulmonic stenosis	ORPHA:7
Developmental And Epileptic Encephalopathy 1	Growth delay, Microphthalmia	OMIM:308350
Kaposiform Lymphangiomatosis	Epistaxis, Abnormal bleeding, Bruising susceptibility, Abnormal lymphatic vessel morphology, Ecch...	ORPHA:464329
Linear Skin Defects With Multiple Congenital Anomalies 2	Short stature, Microphthalmia	OMIM:300887
Joubert Syndrome 14	Intracranial hemorrhage, Hypertension	OMIM:614424
Meckel Syndrome, Type 4	Intrauterine growth retardation, Encephalocele, Microphthalmia, Meningocele, Anencephaly	OMIM:611134
Micro Syndrome	Hydronephrosis, Abnormal localization of kidney, Hypoplasia of penis	ORPHA:2510
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Large for gestational age, Vesicoureteral reflux, Hydronephrosis, Bladder trabeculation, Ureteral...	OMIM:614080
Mandibuloacral Dysplasia Progeroid Syndrome	Focal segmental glomerulosclerosis, Proteinuria	OMIM:619127
Zygomycosis	Nephritis, Hepatitis, Fasciitis, Renal insufficiency, Infectious encephalitis, Pustule, Peritonit...	ORPHA:73263
Microphthalmia, Syndromic 9	Renal hypoplasia, Horseshoe kidney, Neonatal death, Hydronephrosis, Pelvic kidney, Renal malrotat...	OMIM:601186
Imerslund-Gräsbeck Syndrome	Abnormal bleeding, Failure to thrive, Proteinuria, Weight loss, Tachycardia	ORPHA:35858
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Martin-Probst Syndrome	Proteinuria, Chordee, Renal insufficiency, Micropenis	OMIM:300519
Autosomal Recessive Spastic Paraplegia Type 20	Hydronephrosis, Dysuria, Dysphagia	ORPHA:101000
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis, Hyperactivity, Ectopic ...	OMIM:235510
1Q21.1 Microdeletion Syndrome	Hydronephrosis, Attention deficit hyperactivity disorder, Vesicoureteral reflux, Failure to thrive	ORPHA:250989
Bresek Syndrome	Intrauterine growth retardation, Optic nerve hypoplasia, Growth delay, Microphthalmia	ORPHA:85284
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Pancreatitis, Methylmalonic aciduria	OMIM:251000
Pfeiffer Syndrome Type 3	Horseshoe kidney, Hydronephrosis, Vesicoureteral reflux	ORPHA:93260
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hydronephrosis, Micropenis, Hypoproteinemia, Hypocalcemia	OMIM:235255
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Hydroureter, Valvular pulmonary stenosis, Crossed fused renal ectopia,...	OMIM:300707
Joubert Syndrome With Oculorenal Defect	Nephropathy, Renal insufficiency	ORPHA:2318
Seckel Syndrome 2	Short stature, Growth delay, Microphthalmia	OMIM:606744
Refsum Disease	Renal insufficiency	ORPHA:773
Relapsing Fever	Hematuria, Acute kidney injury, Abnormality of the urinary system	ORPHA:91547
Meckel Syndrome, Type 5	Occipital encephalocele, Anencephaly, Microphthalmia	OMIM:611561
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Obesity, Vesicoureteral reflux, Hydronephrosis, Motor stereotypy, Micropenis, Heart murmur, Pelvi...	OMIM:618653
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Hydronephrosis	ORPHA:457193
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad...	OMIM:614527
Calciphylaxis	Stage 5 chronic kidney disease	ORPHA:280062
Congenital Myopathy 17	Failure to thrive in infancy, Renal hypoplasia, Hydronephrosis, Ureteropelvic junction obstruction	OMIM:618975
Coach Syndrome 1	Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni...	OMIM:216360
Basel-Vanagaite-Smirin-Yosef Syndrome	Hydronephrosis, Pulmonary arterial hypertension, Hypospadias	OMIM:616449
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Short stature, Optic nerve hypoplasia, Mild short stature, Microphthalmia	OMIM:614833
Joubert Syndrome With Renal Defect	Nephropathy, Renal insufficiency	ORPHA:220497
Carpenter Syndrome 1	Hydronephrosis, Obesity, Hydroureter, Pulmonic stenosis	OMIM:201000
Exstrophy-Epispadias Complex	Penoscrotal transposition, Renal hypoplasia, Renal dysplasia, Horseshoe kidney, Abnormality of th...	ORPHA:322
Wilson Disease	Hypouricemia, Hypoalbuminemia, Aminoaciduria, Glycosuria, Hyperbilirubinemia, Hyperphosphaturia, ...	OMIM:277900
Hyperparathyroidism-Jaw Tumor Syndrome	Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy...	ORPHA:99880
8P Inverted Duplication/Deletion Syndrome	Abnormality of the urinary system, Hydronephrosis, Attention deficit hyperactivity disorder, Micr...	ORPHA:96092
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Ketonuria, 3-Methylglutaconic aciduria, Elevated circulating creatine kinase concentration, Myogl...	OMIM:251900
Malignant Hyperthermia Of Anesthesia	Acute kidney injury, Hyperphosphatemia, Supraventricular tachycardia, High-output congestive hear...	ORPHA:423
Musculocontractural Ehlers-Danlos Syndrome	Functional abnormality of the bladder, Abnormal bleeding, Bruising susceptibility, Horseshoe kidn...	ORPHA:2953
Combined Oxidative Phosphorylation Deficiency 9	Tubulointerstitial nephritis	OMIM:614582
Ohdo Syndrome	Proteinuria	OMIM:249620
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Exercise-induced myoglobinuria, Dilated cardiomyopathy, Abnormal left ventricular function, Eleva...	OMIM:607155
Ring Chromosome 10 Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:1438
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Unilateral renal agenesis, Hypospadias, Aortic regurgitation, Failure to t...	ORPHA:464306
Pseudo-Torch Syndrome 1	Renal insufficiency	OMIM:251290
Multiple Benign Circumferential Skin Creases On Limbs	Short stature, Umbilical hernia, Edema, Microphthalmia	ORPHA:2505
Spondyloenchondrodysplasia	Chronic kidney disease, Pneumonia, Hepatitis, Skin rash, Hematuria, Proteinuria, Arthritis, Juven...	ORPHA:1855
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Aortic root aneurysm, Congestive heart failure, Aortic atherosclerotic les...	ORPHA:363618
Systemic Lupus Erythematosus	Hematuria, Proteinuria, Weight loss, Lupus nephritis, Raynaud phenomenon, Anorexia, Hypertension,...	ORPHA:536
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Rhizomelia, Microphthalmia	ORPHA:93267
Baraitser-Winter Syndrome 2	Short stature, Microphthalmia	OMIM:614583
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Porphyria Variegata	Chronic kidney disease, Increased urinary porphobilinogen, Porphyrinuria, Neurogenic bladder, Ele...	ORPHA:79473
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypocalcemia, Hydronephrosis, Abnormal renal morphology, Micropenis, Hypoproteinemia	ORPHA:1655
Insulin-Resistance Syndrome Type B	Hypoalbuminemia, Nephritis, Hypotriglyceridemia, Glycosuria, Abnormal circulating lipid concentra...	ORPHA:2298
Sifrim-Hitz-Weiss Syndrome	Micropenis, Vesicoureteral reflux, Renal insufficiency	OMIM:617159
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Gastrointestinal hemorrhage, Pulmonary embolism, Arteriovenous malformation, Subcutaneous hemorrh...	ORPHA:394
Alstrom Syndrome	Nephritis, Recurrent pneumonia, Renal insufficiency, Otitis media, Chronic active hepatitis, Tubu...	OMIM:203800
Hydrolethalus	Polyhydramnios, Anencephaly, Anophthalmia, Microphthalmia	ORPHA:2189
Gracile Bone Dysplasia	Ascites, Aniridia, Short stature, Microphthalmia	OMIM:602361
Parathyroid Carcinoma	Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy...	ORPHA:143
Monosomy 18P	Short stature, Lymphedema, Microphthalmia	ORPHA:1598
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Trisomy 20P	Abnormality of the ureter, Hydronephrosis, Multiple renal cysts, Abnormality of the kidney, Abnor...	ORPHA:261318
Encephalocraniocutaneous Lipomatosis	Hydronephrosis, Pelvic kidney	OMIM:613001
Carey-Fineman-Ziter Syndrome	Glandular hypospadias, Hypertensive crisis, Hydronephrosis	ORPHA:1358
Renal-Hepatic-Pancreatic Dysplasia 1	Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency, Ureteral atresia, Polycysti...	OMIM:208540
Autosomal Recessive Cutis Laxa Type 1	Recurrent pneumonia, Multiple bladder diverticula, Urethral diverticulum, Recurrent urinary tract...	ORPHA:90349
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Oligohydramnios, Microphthalmia	OMIM:619053
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease	OMIM:620366
Crimean-Congo Hemorrhagic Fever	Gingival bleeding, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Bundle branch block, Hemoth...	ORPHA:99827
Hermansky-Pudlak Syndrome 1	Colitis, Inflammation of the large intestine, Renal insufficiency	OMIM:203300
Joubert Syndrome 5	Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu...	OMIM:610188
Hoxha-Aliu Syndrome	Hydronephrosis, Vesicoureteral reflux	OMIM:620662
Duane-Radial Ray Syndrome	Renal hypoplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Vesicoureteral r...	OMIM:607323
Igg4-Related Pachymeningitis	Nephritis, Lymphadenitis, Parotitis, Pancreatitis, Sinusitis	ORPHA:449427
7Q11.23 Microduplication Syndrome	Self-injurious behavior, Unilateral renal agenesis, Hypospadias, Aortic valve stenosis, Obesity, ...	ORPHA:96121
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased inflammatory response, Acute kidney injury, Decreased urine output, Skin rash	ORPHA:542323
Joubert Syndrome 2	Renal cyst, Nephronophthisis, Renal insufficiency	OMIM:608091
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short stature, Intrauterine growth retardation, Rhizomelia, Microphthalmia	ORPHA:163966
Listeriosis	Pneumonia, Acute kidney injury, Arteritis, Osteomyelitis, Pyelonephritis, Cholecystitis, Infectio...	ORPHA:533
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Failure to thrive, Transient ischemic attack, Hydronephrosis, Abnormality of the upp...	ORPHA:2995
15Q Overgrowth Syndrome	Ureterovesical stenosis, Horseshoe kidney, Tricuspid regurgitation, Mitral regurgitation, Nephrob...	ORPHA:314585
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Multiple glomerular cysts	OMIM:267010
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris	OMIM:604229
Acquired Generalized Lipodystrophy	Abnormal circulating lipid concentration, Cardiomyopathy, Abnormal cardiovascular system physiolo...	ORPHA:79086
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Intellectual Developmental Disorder, Autosomal Dominant 42	Phonic tics, Failure to thrive, Ureteropelvic junction obstruction, Hydronephrosis, Aggressive be...	OMIM:616973
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Familial Dysautonomia	Glomerulopathy, Renal insufficiency, Abnormality of the kidney	ORPHA:1764
Frontonasal Dysplasia 1	Cranium bifidum occultum, Anterior basal encephalocele, Microphthalmia	OMIM:136760
X-Linked Dominant Chondrodysplasia Punctata	Hydronephrosis	ORPHA:35173
Spondylo-Ocular Syndrome	Short stature, Disproportionate short-trunk short stature, Aplasia/Hypoplasia of the lens, Microp...	ORPHA:85194
Mercury Poisoning	Acute kidney injury, Interstitial pneumonitis	ORPHA:330021
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydronephrosis, Ureteral triplication	OMIM:104350
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Failure to thrive, Cardiomyopathy, Renal tubular acidosis, Elevated circulating creatine kinase c...	ORPHA:264580
Bannayan-Riley-Ruvalcaba Syndrome	Arteriovenous malformation, Subcutaneous hemorrhage, Telangiectasia, Angina pectoris, Aortic aneu...	ORPHA:109
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Oculocerebrorenal Syndrome Of Lowe	Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Motor stereotypy, Aminoaciduria, Se...	ORPHA:534
Stromme Syndrome	Hydronephrosis, Bilateral renal hypoplasia, Stillbirth	OMIM:243605
Cat Eye Syndrome	Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis, Pulmonic stenosis	OMIM:115470
Structural Heart Defects And Renal Anomalies Syndrome	Renal cyst, Renal insufficiency	OMIM:617478
Takenouchi-Kosaki Syndrome	Hydronephrosis, Unilateral renal agenesis, Hypospadias, Pulmonic stenosis	OMIM:616737
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Castleman Disease	Hematuria, Ureteral obstruction, Renal insufficiency	ORPHA:160
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Vesicoureteral reflux, Renal insufficiency	ORPHA:96147
Bardet-Biedl Syndrome 20	Proteinuria, Obesity, Hypercholesterolemia, Micropenis	OMIM:619471
Combined Oxidative Phosphorylation Deficiency 55	Proximal tubulopathy, Organic aciduria, Stage 3 chronic kidney disease, Medullary nephrocalcinosi...	OMIM:619743
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Hydronephrosis, Tricuspid regurgitation, Pulmonary arterial hypertension, Vesicoureteral reflux	OMIM:620663
Pearson Syndrome	Glycosuria, Cardiomyopathy, Hypomagnesemia, Renal insufficiency, Hypocalcemia, Cardiac conduction...	ORPHA:699
Microcephaly 20, Primary, Autosomal Recessive	Short stature, Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Pelvis-Shoulder Dysplasia	Short stature, Spina bifida occulta, Microphthalmia	OMIM:169550
Intellectual Developmental Disorder, Autosomal Dominant 53	Hydronephrosis, Micropenis	OMIM:617798
Joubert Syndrome With Hepatic Defect	Nephropathy, Multicystic kidney dysplasia, Renal insufficiency	ORPHA:1454
Developmental Delay With Or Without Dysmorphic Facies And Autism	Renal hypoplasia, Microphallus, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Pulmonary arte...	OMIM:618454
Wolcott-Rallison Syndrome	Chronic kidney disease, Renal insufficiency	ORPHA:1667
Osteoporosis-Pseudoglioma Syndrome	Short stature, Microphthalmia	ORPHA:2788
Autoinflammatory Disease, Systemic, X-Linked	Cerebral hemorrhage	OMIM:301081
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Self-injurious behavior, Recurrent urinary tract infections, Hydronephrosis, Abnormality of the k...	ORPHA:847
Genitopatellar Syndrome	Hydronephrosis, Multicystic kidney dysplasia	ORPHA:85201
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Sickle Cell Disease	Hematuria, Renal insufficiency	OMIM:603903
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Failure to thrive, Bruxism, Vesicoureteral reflux, Hydronephrosis, Abnormal bladder morphology	ORPHA:453499
Avian Influenza	Pneumonia, Acute kidney injury, Myelitis, Hepatitis, Infectious encephalitis, Conjunctivitis	ORPHA:454836
Mosaic Trisomy 9	Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Hypoplasia of penis, Renal dysplasia	ORPHA:99776
Ogden Syndrome	Eczematoid dermatitis, Recurrent otitis media, Global glomerulosclerosis, Polycystic kidney dyspl...	OMIM:300855
Au-Kline Syndrome	Chronic kidney disease, Dilatation of the renal pelvis, Failure to thrive, Vesicoureteral reflux,...	OMIM:616580
Pelvis-Shoulder Dysplasia	Hydronephrosis	ORPHA:2839
Mitochondrial Complex I Deficiency, Nuclear Type 29	Stage 5 chronic kidney disease, Lacticaciduria	OMIM:618250
Cerebrooculofacioskeletal Syndrome 1	Dehydration, Microphthalmia	OMIM:214150
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypospadias, Renal agenesis, Hydronephrosis, Micropenis, Motor stereotypy	OMIM:301040
Myopathy With Lactic Acidosis, Hereditary	Myoglobinuria, Palpitations, Elevated circulating creatine kinase concentration	OMIM:255125
Basel-Vanagaite-Smirin-Yosef Syndrome	Male urethral meatus stenosis, Hydronephrosis, Aggressive behavior, Pulmonary arterial hypertensi...	ORPHA:464738
Donnai-Barrow Syndrome	Proteinuria, Non-acidotic proximal tubulopathy	OMIM:222448
Agel Amyloidosis	Bruising susceptibility, Cardiomyopathy, Stage 5 chronic kidney disease, Proteinuria, Orthostatic...	ORPHA:85448
Distal Deletion 12Q	Failure to thrive in infancy, Obesity, Vesicoureteral reflux, Obsessive-compulsive trait, Self-mu...	ORPHA:96149
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Hyperechogenic kidneys, Renal cortical cysts, Renal insufficiency, Recurrent aspiration pneumonia...	ORPHA:397715
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Renal tubular acidosis, Elevated circulating creatine kinase concentration, Increased body weight...	ORPHA:79240
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Fetal intraventricular hemorrhage	OMIM:618480
Kabuki Syndrome	Abnormal localization of kidney, Failure to thrive, Obesity, Crossed fused renal ectopia, Uretero...	ORPHA:2322
Hyperphosphatasia-Intellectual Disability Syndrome	Hydronephrosis, Telangiectasia	ORPHA:247262
Congenital Primary Aphakia	Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi...	ORPHA:83461
Cranioectodermal Dysplasia 4	Recurrent pneumonia, Stage 5 chronic kidney disease	OMIM:614378
Fryns Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Vesicoureteral reflux, Hypospadias	ORPHA:2059
Shigellosis	Pneumonia, Acute kidney injury, Uveitis, Ulcerative colitis, Urethritis, Peritonitis, Arthritis, ...	ORPHA:810
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Pneumonia, Inflammatory abnormality of the skin, Eczematoid dermatitis, Hepatitis, Osteomyelitis,...	ORPHA:37042
Pallister-Hall Syndrome	Renal hypoplasia, Hydroureter, Distal urethral duplication, Neonatal death, Hydronephrosis, Renal...	OMIM:146510
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Unilateral renal agenesis, Elevated 8(9)-cholestenol, Hydronephrosis, Stillbirth, Elevated 8-dehy...	OMIM:308050
Cerebellar-Facial-Dental Syndrome	Hydronephrosis, Ureteropelvic junction obstruction, Failure to thrive, Abnormal T-wave	ORPHA:444072
Gabriele-De Vries Syndrome	Hydronephrosis, Attention deficit hyperactivity disorder, Ureteropelvic junction obstruction	OMIM:617557
Rodrigues Blindness	Short stature, Microphthalmia	OMIM:268320
White-Kernohan Syndrome	Hydroureter, Horseshoe kidney, Obesity, Hydronephrosis, Attention deficit hyperactivity disorder	OMIM:619426
Mosaic Trisomy 8	Hydronephrosis, Vesicoureteral reflux	ORPHA:96061
Familial Exudative Vitreoretinopathy	Lymphedema, Macular edema, Microphthalmia	ORPHA:891
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Chronic kidney disease, Renal amyloidosis, Abnormality of the urinary system, IgA deposition in t...	ORPHA:79408
Lujo Hemorrhagic Fever	Oliguria, Renal insufficiency, Skin rash, Maculopapular exanthema, Myocarditis, Rhinitis, Fulmina...	ORPHA:319213
Teebi-Shaltout Syndrome	Horseshoe kidney, Aortic valve stenosis, Hydronephrosis, Ureteral stenosis	OMIM:272950
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Lymphedema, Microphthalmia	OMIM:152950
Adams-Oliver Syndrome 2	Oligohydramnios, Microphthalmia	OMIM:614219
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Microphthalmia	OMIM:601794
Tafro Syndrome	Renal insufficiency	ORPHA:457077
Cardiofaciocutaneous Syndrome 1	Failure to thrive, Hypertrophic cardiomyopathy, Hydronephrosis, Tongue thrusting, Pulmonic stenosis	OMIM:115150
Floating-Harbor Syndrome	Hypospadias, Nephrocalcinosis, Abnormal temper tantrums, Dilatation of the renal pelvis, Renal ag...	ORPHA:2044
Monosomy 22Q13.3	Bruxism, Obesity, Recurrent pyelonephritis, Vesicoureteral reflux, Hair-pulling, Hydronephrosis, ...	ORPHA:48652
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hypokalemia, Hyponatr...	ORPHA:90038
Lead Poisoning	Chronic kidney disease, Skin rash, Tubulointerstitial nephritis, Renal tubular dysfunction	ORPHA:330015
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperbilirubinemia, Hypocalcemia, Hydronephrosis, Micropenis, Heart murmur, Intracranial hemorrha...	ORPHA:163979
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Tubulointerstitial nephritis, Enuresis, Abnormality of the kidney	ORPHA:459061
Giant Cell Arteritis	Hematuria, Renal insufficiency, Arthritis, Pericarditis	ORPHA:397
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Hemoglobinuria, Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase leve...	OMIM:300908
Raine Syndrome	Hydronephrosis, Hypophosphatemia, Hydroureter, Neonatal death	OMIM:259775
Microphthalmia, Syndromic 5	Short stature, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:610125
Penile Agenesis	Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, H...	ORPHA:49
15q26 overgrowth syndrome	Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephro...	DECIPHER:81
Arteriosclerosis, Severe Juvenile	Chronic kidney disease	OMIM:208060
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Subaortic Stenosis-Short Stature Syndrome	Short stature, Microphthalmia	ORPHA:3191
Cornelia De Lange Syndrome 1	Self-injurious behavior, Renal hypoplasia, Reduced renal corticomedullary differentiation, Vesico...	OMIM:122470
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Self-injurious behavior, Aortic valve stenosis, Abnormality of the urinary system, Failure to thr...	ORPHA:353281
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Subdural hemorrhage, Cerebral hemorrhage	OMIM:620278
Thakker-Donnai Syndrome	Hydronephrosis	ORPHA:1780
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Myoglobinuria, Cardiomyopathy, Elevated circulating creatine kinase concentration	ORPHA:206549
Lowe Oculocerebrorenal Syndrome	Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Failure to thrive, Low-molecular-weight...	OMIM:309000
Hereditary Fructose Intolerance	Chronic kidney disease, Renal insufficiency	ORPHA:469
Glycogen Storage Disease Ii	Sinus tachycardia, Dilatation of the cerebral artery, Shortened PR interval, Subarachnoid hemorrh...	OMIM:232300
Primary Sjögren Syndrome	Arteritis, Parotitis, Chronic active hepatitis, Renal insufficiency, Lymphocytic interstitial pne...	ORPHA:289390
Congenital Alveolar Capillary Dysplasia	Hydronephrosis, Aortic valve stenosis, Pulmonary arterial hypertension	ORPHA:210122
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris...	ORPHA:2334
Sandestig-Stefanova Syndrome	Intrauterine growth retardation, Microphthalmia	OMIM:618804
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Tricuspid regurgitation, Retinal arterial tortuosity, Vitreous hemorrhage, Cerebral hemorrhage, R...	OMIM:620371
Osteopetrosis With Renal Tubular Acidosis	Failure to thrive, Distal renal tubular acidosis, Renal tubular acidosis, Hypocalcemia, Elevated ...	ORPHA:2785
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Subarachnoid hemorrhage, Cerebral vasculitis	OMIM:243700
Otopalatodigital Syndrome Type 2	Hydronephrosis, Ureteral obstruction, Hypospadias, Failure to thrive	ORPHA:90652
Stevens-Johnson Syndrome	Abnormality of the urethra, Renal insufficiency, Pancreatitis, Conjunctivitis, Dysuria	ORPHA:36426
Behçet Disease	Recurrent aphthous stomatitis, Renal insufficiency, Infectious encephalitis, Increased inflammato...	ORPHA:117
Matthew-Wood Syndrome	Intrauterine growth retardation, Anophthalmia, Microphthalmia	ORPHA:2470
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Hydronephrosis, Renal dysplasia	OMIM:300968
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lens coloboma, Umbilical hernia, Microphthalmia	OMIM:618914
Menkes Disease	Gastrointestinal hemorrhage, Spontaneous hematomas, Arterial stenosis, Venous insufficiency, Vasc...	ORPHA:565
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Hydronephrosis	ORPHA:254528
Distal Deletion 10Q	Acute kidney injury, Functional abnormality of the bladder, Horseshoe kidney, Vesicoureteral refl...	ORPHA:96148
Glutaryl-Coa Dehydrogenase Deficiency	Retinal hemorrhage, Subdural hemorrhage	ORPHA:25
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Failure to thrive, Recurrent urinary tract infections, Mitral regurgitation, Hydronephrosis, Pulm...	OMIM:612541
Cockayne Syndrome Type 3	Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Subdural hemorrhage,...	ORPHA:90324
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Intraventricular hemorrhage, Prolonged prothrombin time, Neonatal death	OMIM:619055
Toxic Epidermal Necrolysis	Abnormality of the urethra, Renal insufficiency, Pancreatitis, Conjunctivitis, Dysuria	ORPHA:537
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Abnormal renal collecting system morphology, Hydroureter, Unilateral renal dysplasia, Urinary bla...	ORPHA:280633
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Rere-Related Neurodevelopmental Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia	ORPHA:494344
Holoprosencephaly 3	Hydronephrosis	OMIM:142945
Cardiofaciocutaneous Syndrome	Failure to thrive in infancy, Pulmonic stenosis, Hydronephrosis, Hypertrophic cardiomyopathy	ORPHA:1340
Intermediate Uveitis	Tubulointerstitial nephritis, Optic neuritis, Psoriasiform dermatitis, Anterior uveitis	ORPHA:279914
Melnick-Needles Syndrome	Failure to thrive, Ureteral stenosis, Hydronephrosis, Pulmonary arterial hypertension, Stillbirth	OMIM:309350
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Scalp-Ear-Nipple Syndrome	Unilateral renal agenesis, Renal hypoplasia, Renal insufficiency, Pyelonephritis	OMIM:181270
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Renal insufficiency	OMIM:226980
Cholera	Abnormality of renal excretion, Acute kidney injury, Decreased urine output, Aspiration pneumonia	ORPHA:173
Smith-Lemli-Opitz Syndrome	Hypoalbuminemia, Unilateral renal agenesis, Renal hypoplasia, Duplicated collecting system, Failu...	OMIM:270400
Campomelic Dysplasia	Hydronephrosis	ORPHA:140
Porphyria Cutanea Tarda	Cutaneous abscess, Stage 5 chronic kidney disease, Increased urinary porphobilinogen, Porphyrinur...	ORPHA:101330
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Familial Mediterranean Fever	Renal amyloidosis, Erysipelas, Stage 5 chronic kidney disease, Crohn's disease, Orchitis, Periton...	OMIM:249100
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Oliguria, Recurrent pneumonia, Recurrent urinary tract infections, Reduced r...	ORPHA:731
Heart And Brain Malformation Syndrome	Polyhydramnios, Growth delay, Microphthalmia	OMIM:616920
Fetal Alcohol Syndrome	Short stature, Intrauterine growth retardation, Microphthalmia	ORPHA:1915
Colchicine Poisoning	Myocarditis, Oliguria, Renal insufficiency	ORPHA:31824
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia, Hydronephrosis, Telangi...	ORPHA:2092
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Intracranial hemorrhage, Hypertension	ORPHA:90795
Tarp Syndrome	Horseshoe kidney, Hydronephrosis, Failure to thrive	ORPHA:2886
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hemoglobinuria, Increased circulating ferritin concentration	OMIM:194380
Hardikar Syndrome	Hypoplasia of the bladder, Hydroureter, Failure to thrive, Recurrent urinary tract infections, Py...	OMIM:301068
Trichothiodystrophy 3, Photosensitive	Short stature, Intrauterine growth retardation, Microphthalmia	OMIM:616395
Frontometaphyseal Dysplasia 1	Hydronephrosis, Hydroureter	OMIM:305620
Mckusick-Kaufman Syndrome	Hydronephrosis, Polycystic kidney dysplasia, Hydroureter, Vesicovaginal fistula	OMIM:236700
Solitary Median Maxillary Central Incisor	Short stature, Anophthalmia, Microphthalmia	OMIM:147250
Combined Oxidative Phosphorylation Deficiency 25	Intraventricular hemorrhage	OMIM:616430
Vater/Vacterl Association	Failure to thrive, Renal agenesis, Vesicoureteral reflux, Ureteropelvic junction obstruction, Hyd...	OMIM:192350
Fanconi Anemia, Complementation Group I	Short stature, Intrauterine growth retardation, Optic nerve hypoplasia, Microphthalmia	OMIM:609053
Occipital Horn Syndrome	Bruising susceptibility, Ureteral obstruction, Hydronephrosis, Bladder diverticulum, Orthostatic ...	OMIM:304150
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ketonuria, Methylmalonic aciduria, Renal insufficiency, Glomerulopathy, Stomatitis, Hemolytic-ure...	ORPHA:79282
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops fetalis, Micropht...	OMIM:153400
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia	OMIM:610256
Cardiac Valvular Dysplasia 1	Valvular pulmonary stenosis, Hydroureter, Urethral diverticulum, Tricuspid regurgitation, Mitral ...	OMIM:212093
Craniofacioskeletal Syndrome	Hydronephrosis, Hypospadias, Hypocalcemia	OMIM:300712
Pure Mitochondrial Myopathy	Recurrent myoglobinuria	ORPHA:254854
Baraitser-Winter Syndrome 1	Short stature, Postnatal growth retardation, Microphthalmia	OMIM:243310
Persistent Hyperplastic Primary Vitreous	Hyaloid vascular remnant and retrolental mass, Tractional retinal detachment, Remnants of the hya...	ORPHA:91495
Tuberous Sclerosis Complex	Chronic kidney disease, Stage 5 chronic kidney disease, Renal insufficiency, Renal angiomyolipoma...	ORPHA:805
Superficial Siderosis	Arteriovenous malformation, Abnormal bleeding, Abnormal vertebral artery morphology, Subarachnoid...	ORPHA:247245
Trisomy 18	Hydronephrosis, Abnormality of the upper urinary tract, Cachexia	ORPHA:3380
Koolen-De Vries Syndrome Due To A Point Mutation	Cardiomyopathy, Recurrent urinary tract infections, Slender build, Inappropriate laughter, Vesico...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Cardiomyopathy, Recurrent urinary tract infections, Slender build, Inappropriate laughter, Vesico...	ORPHA:363958
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Garg-Mishra Progeroid Syndrome	Short stature, Postnatal growth retardation, Microphthalmia	OMIM:620601
Coccidioidomycosis	Pneumonia, Folliculitis, Morbilliform rash, Osteomyelitis, Renal insufficiency, Panniculitis, Ski...	ORPHA:228123
Frontofacionasal Dysplasia	Short stature, Encephalocele, Microphthalmia	ORPHA:1791
Idiopathic Hypereosinophilic Syndrome	Dilated cardiomyopathy, Pulmonary embolism, Congestive heart failure, Transient ischemic attack, ...	ORPHA:3260
Oeis Complex	Duplicated collecting system, Hydroureter, Vesicovaginal fistula, Renal agenesis, Hydronephrosis,...	OMIM:258040
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Growth delay, Anophthalmia, Microphthalmia	ORPHA:77298
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Occipital encephalocele, Microphthalmia	ORPHA:370959
Opitz Gbbb Syndrome	Abnormality of the urinary system, Vesicoureteral reflux, Hydronephrosis, Dysphagia, Hypospadias	ORPHA:2745
Fanconi Anemia, Complementation Group S	Short stature, Microphthalmia	OMIM:617883
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Ethmoidal encephalocele, Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Nijmegen Breakage Syndrome	Hydronephrosis, Conjunctival telangiectasia, Hyperactivity, Recurrent urinary tract infections	OMIM:251260
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Hydronephrosis, Urethral atresia	OMIM:271520
Multiple Myeloma	Nephropathy, Nephrotic syndrome, Acute kidney injury, Abnormality of the bladder	ORPHA:29073
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	Duplication of renal pelvis, Inappropriate laughter, Self-mutilation, Aggressive behavior, Ureter...	ORPHA:457212
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Duplicated collecting system, Hydroureter, Ureterocele, Megacystis, Renal agenesis, Vesicouretera...	OMIM:604292
Methylmalonic Acidemia With Homocystinuria Type Cblf	Intraventricular hemorrhage	ORPHA:79284
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Fryns Syndrome	Renal agenesis, Large for gestational age, Hydronephrosis, Renal cyst, Stillbirth, Ureteral dupli...	OMIM:229850
Microcephaly-Micromelia Syndrome	Intrauterine growth retardation, Oligohydramnios, Microphthalmia	OMIM:251230
Vacterl With Hydrocephalus	Intrauterine growth retardation, Anophthalmia, Spina bifida, Microphthalmia, Polyhydramnios	ORPHA:3412
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Cockayne Syndrome	Unilateral renal agenesis, Renal hypoplasia, Renal insufficiency, Retinal hemorrhage, Hyperuricem...	ORPHA:191
1P36 Deletion Syndrome	Self-injurious behavior, Dilated cardiomyopathy, Failure to thrive, Obesity, Hydronephrosis, Rena...	ORPHA:1606
Waldenström Macroglobulinemia	Renal insufficiency	ORPHA:33226
Serotonin Syndrome	Acute kidney injury	ORPHA:43116
Autoimmune Lymphoproliferative Syndrome	Hepatitis, Recurrent aphthous stomatitis, Renal insufficiency, Gastritis, Glomerulonephritis, Art...	ORPHA:3261
Medulloblastoma	Cerebellar hemorrhage	ORPHA:616
Hydranencephaly	Dilatation of the ventricular cavity, Antenatal intracerebral hemorrhage, Abnormal internal carot...	ORPHA:2177
Glycogen Storage Disease Xii	Hemoglobinuria, Hyperbilirubinemia, Reduced haptoglobin level, Elevated circulating creatine kina...	OMIM:611881
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hydronephrosis, Hypertension	ORPHA:2750
Cousin Syndrome	Hydronephrosis	OMIM:260660
Fanconi Anemia, Complementation Group R	Growth delay, Microphthalmia	OMIM:617244
Kyphoscoliotic Ehlers-Danlos Syndrome	Bruising susceptibility, Subdural hemorrhage, Arterial rupture, Aortic aneurysm, Cerebral hemorrh...	ORPHA:536545
Warburg Micro Syndrome 4	Short stature, Severe postnatal growth retardation, Microphthalmia	OMIM:615663
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Self-injurious behavior, Fixated interests, Hypocalcemia, Hair-pulling, Hydronephrosis, Polyphagi...	OMIM:620330
Microphthalmia With Limb Anomalies	Postnatal growth retardation, Growth delay, Anophthalmia, Microphthalmia	OMIM:206920
Trisomy 8P	Nephrocalcinosis, Hydronephrosis, Micropenis, Heart murmur, Fetal pyelectasis	ORPHA:264450
Eec Syndrome	Vesicoureteral reflux, Renal hypoplasia/aplasia, Hydronephrosis, Urethral atresia, Hypospadias	ORPHA:1896
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Postnatal growth retardation, Severe intrauterine growth retardation, Microphthalmia	OMIM:241410
Schinzel-Giedion Midface Retraction Syndrome	Hydroureter, Failure to thrive, Ureteral stenosis, Hydronephrosis, Micropenis, Hypospadias	OMIM:269150
Smith-Lemli-Opitz Syndrome	Self-injurious behavior, Abnormal localization of kidney, Multicystic kidney dysplasia, Ureterope...	ORPHA:818
Frontonasal Dysplasia 2	Intrauterine growth retardation, Oligohydramnios, Encephalocele, Microphthalmia	OMIM:613451
Cockayne Syndrome B	Failure to thrive, Renal insufficiency, Proteinuria, Severe failure to thrive, Arrhythmia, Microp...	OMIM:133540
Cranioectodermal Dysplasia 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:614099
Marden-Walker Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia	OMIM:248700
Dubowitz Syndrome	Hydronephrosis, Attention deficit hyperactivity disorder, Hypospadias	ORPHA:235
Fanconi Anemia, Complementation Group F	Polyhydramnios, Intrauterine growth retardation, Short stature, Microphthalmia	OMIM:603467
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Short stature, Bilateral microphthalmos, Umbilical hernia	ORPHA:369891
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Orofaciodigital Syndrome Type 3	Stage 5 chronic kidney disease	ORPHA:2752
Bardet-Biedl Syndrome	Chronic kidney disease, Cardiomyopathy, Decreased HDL cholesterol concentration, Horseshoe kidney...	ORPHA:110
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dilatation of the renal pelvis, Hyperbilirubinemia, Dark urine, Neonatal death, Aortic regurgitat...	OMIM:619534
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Intrauterine growth retardation, Microphthalmia	ORPHA:1352
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Violent behavior, Large for gestational age, Ureteropelvic junction obstruction, Hydronephrosis, ...	OMIM:280000
Acute Adrenal Insufficiency	Renal salt wasting, Decreased urinary potassium, Renal insufficiency	ORPHA:95409
Hutchinson-Gilford Progeria Syndrome	Aortic valve stenosis, Aortic regurgitation, Carotid artery occlusion, Atherosclerosis, Transient...	ORPHA:740
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Microphthalmia	OMIM:615249
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Short stature, Microphthalmia	OMIM:617306
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Liver Disease, Severe Congenital	Aminoaciduria, Hypospadias, Failure to thrive, Abnormal left ventricular function, Increased circ...	OMIM:619991
Alg9-Cdg	Hypoplasia of the bladder, Tricuspid regurgitation, Abnormal renal artery morphology, Hydronephro...	ORPHA:79328
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Acute kidney injury, Oliguria, Septic arthritis, Anuria, Decreased urine output, Pancr...	ORPHA:544482
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Pituitary Deficiency Due To Rathke Cleft Cysts	Intracranial hemorrhage	ORPHA:91350
Williams Syndrome	Mitral regurgitation, Overfriendliness, Failure to thrive in infancy, Hypertrophic cardiomyopathy...	ORPHA:904
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal dysplasia, Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypop...	OMIM:614643
Nasopalpebral Lipoma-Coloboma Syndrome	Severe postnatal growth retardation, Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Schinzel-Giedion Syndrome	Failure to thrive in infancy, Abnormality of the ureter, Nephroblastoma, Nephrolithiasis, Hydrone...	ORPHA:798
Cerebrooculofacioskeletal Syndrome 4	Short stature, Intrauterine growth retardation, Bilateral microphthalmos	OMIM:610758
Temtamy Syndrome	Microphthalmia	OMIM:218340
Nelson Syndrome	Intracranial hemorrhage, Hypertension	ORPHA:199244
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Enuresis, Renal agenesis, Grade III vesicoureteral reflux, Ureteropelvic junction obstruction, Ur...	OMIM:619522
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Self-injurious behavior, Aortic valve stenosis, Abnormality of the urinary system, Failure to thr...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Self-injurious behavior, Aortic valve stenosis, Abnormality of the urinary system, Failure to thr...	ORPHA:353277
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Duplicated collecting system, Hydroureter, Ureterocele, Renal agenesis, Vesicoureteral reflux, Hy...	OMIM:129900
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system	OMIM:221900
Osteogenesis Imperfecta, Type Xvii	Intraventricular hemorrhage	OMIM:616507
3Mc Syndrome 1	Hydronephrosis, Conjunctival telangiectasia	OMIM:257920
Robinow Syndrome	Webbed penis, Multicystic kidney dysplasia, Hydronephrosis, Micropenis, Small for gestational age...	ORPHA:97360
Sepsis In Premature Infants	Oliguria, Reversible renal failure, Enterocolitis	ORPHA:90051
Holoprosencephaly	Abnormality of the urinary system, Failure to thrive in infancy, Hyponatremia, Proteinuria, Arrhy...	ORPHA:2162
Gabriele-De Vries Syndrome	Oral-pharyngeal dysphagia, Ureteropelvic junction obstruction, Hydronephrosis, Attention deficit ...	ORPHA:506358
Igg4-Related Submandibular Gland Disease	Cholangitis, Prostatitis, Renal insufficiency, Abnormality of the kidney	ORPHA:449432
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Pyelonephritis, Bronchiectasis, Bladder diverticulum	ORPHA:90348
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hydronephrosis, Unilateral renal agenesis, Hypospadias	ORPHA:487796
Cutis Laxa, Autosomal Recessive, Type Ic	Hydronephrosis, Multiple bladder diverticula	OMIM:613177
Moebius Syndrome	Microphthalmia	OMIM:157900
Apert Syndrome	Hydronephrosis	OMIM:101200
Simpson-Golabi-Behmel Syndrome	Multicystic kidney dysplasia, Hydroureter, Cardiomyopathy, Bundle branch block, Nephroblastoma, H...	ORPHA:373
Acute Liver Failure	Hypotension, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Shock, Prol...	ORPHA:90062
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Microphthalmia	ORPHA:139471
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Meckel Syndrome 14	Oligohydramnios, Occipital encephalocele, Increased nuchal translucency, Microphthalmia	OMIM:619879
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Intraventricular hemorrhage	OMIM:613603
Tetraamelia-Multiple Malformations Syndrome	Polyhydramnios, Septo-optic dysplasia, Microphthalmia	ORPHA:3301
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Subdural hemorrhage	OMIM:619714
Cockayne Syndrome A	Failure to thrive, Renal insufficiency, Proteinuria, Arrhythmia, Micropenis, Hypertension	OMIM:216400
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Dilatation of the renal pelvis, Hydroureter, Right-to-left shunt, Dilatation of the bladder, Neon...	OMIM:265380
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Aortic regurgitation, Bruising susceptibility, Tricuspid regurgitation, Mitral regurgitation, Ecc...	OMIM:601776
Adams-Oliver Syndrome	Ascites, Encephalocele, Microphthalmia	ORPHA:974
Robinow Syndrome, Autosomal Recessive 1	Nephrocalcinosis, Right ventricular outlet tract obstruction, Renal duplication, Nephrolithiasis,...	OMIM:268310
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Warburg Micro Syndrome 3	Postnatal growth retardation, Microphthalmia	OMIM:614222
Jacobsen Syndrome	Hydronephrosis, Aortic valve stenosis, Multicystic kidney dysplasia, Attention deficit hyperactiv...	ORPHA:2308
Orofaciodigital Syndrome I	Proteinuria, Polycystic kidney dysplasia, Hypertension	OMIM:311200
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Chime Syndrome	Hydronephrosis, Abnormality of the kidney	ORPHA:3474
Hermansky-Pudlak Syndrome	Renal insufficiency	ORPHA:79430
Frontometaphyseal Dysplasia	Hydronephrosis, Ureteral obstruction, Urethral stenosis	ORPHA:1826
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Hydronephrosis, Bruxism, Vesicoureteral reflux	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Hydronephrosis, Bruxism, Vesicoureteral reflux	ORPHA:352665
Ectodermal Dysplasia-Blindness Syndrome	Short stature, Microphthalmia	ORPHA:1806
Dpagt1-Cdg	Prolonged QT interval, Intracranial hemorrhage, Stroke-like episode	ORPHA:86309
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydronephrosis, Multicystic kidney dysplasia, Micropenis, Elevated circulating creatine kinase co...	OMIM:615287
Familial Cerebral Cavernous Malformation	Venous malformation, Cerebral hemorrhage	ORPHA:221061
Tetrasomy 9P	Inappropriate behavior, Recurrent urinary tract infections, Horseshoe kidney, Hydronephrosis, Pul...	ORPHA:3310
Kawasaki Disease	Hypoalbuminemia, Vasculitis, Sterile pyuria, Congestive heart failure, Proteinuria, Arrhythmia, M...	ORPHA:2331
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Acute kidney injury, Nephronophthisis, Stage 5 chronic kidney disease, Reduced renal corticomedul...	OMIM:266920
Otodental Syndrome	Lens coloboma, Microphthalmia	ORPHA:2791
Gaucher Disease Type 3	Hematuria, Proteinuria, Pulmonary arterial hypertension	ORPHA:77261
Autosomal Recessive Robinow Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Hypoplasia of penis	ORPHA:1507
Knobloch Syndrome 1	Hydronephrosis, Bifid ureter, Duplicated collecting system, Renal duplication	OMIM:267750
Ritscher-Schinzel Syndrome 3	Postnatal growth retardation, Microphthalmia	OMIM:619135
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Trichothiodystrophy 4, Nonphotosensitive	Growth delay, Microphthalmia	OMIM:234050
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Edema	OMIM:612097
Arachnoid Cyst	Subarachnoid hemorrhage	ORPHA:2356
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Kapur-Toriello Syndrome	Intrauterine growth retardation, Microphthalmia	OMIM:244300
Loeys-Dietz Syndrome 3	Aortic regurgitation, Bruising susceptibility, Aortic dissection, Arterial tortuosity, Tortuous c...	OMIM:613795
Mandibuloacral Dysplasia With Type B Lipodystrophy	Stage 5 chronic kidney disease	OMIM:608612
Neurooculorenal Syndrome	Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hyperechogenic ki...	OMIM:620305
Mesomelia-Synostoses Syndrome	Hydronephrosis	OMIM:600383
Frontorhiny	Basal encephalocele, Cranium bifidum occultum, Encephalocele, Microphthalmia	ORPHA:391474
Chromosome 1Q41-Q42 Deletion Syndrome	Short stature, Microphthalmia	OMIM:612530
Gaucher Disease	Gingival bleeding, Abnormal bleeding, Increased circulating ferritin concentration, Hematuria, Pr...	ORPHA:355
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Short stature, Microphthalmia	OMIM:618571
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Intrauterine growth retardation, Oligohydramnios, Microphthalmia	ORPHA:364577
Arboleda-Tham Syndrome	Recurrent urinary tract infections, Hydronephrosis, Dysphagia, Motor stereotypy, Pulmonic stenosis	OMIM:616268
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Primary Sclerosing Cholangitis	Hepatitis, Renal insufficiency, Pancreatitis, Ulcerative colitis, Thyroiditis, Uveitis	ORPHA:171
Cranioectodermal Dysplasia 1	Chronic kidney disease, Renal magnesium wasting, Stage 1 chronic kidney disease, Stage 5 chronic ...	OMIM:218330
Mosaic Variegated Aneuploidy Syndrome	Growth delay, Ascites, Intrauterine growth retardation, Increased nuchal translucency, Microphtha...	ORPHA:1052
Riddle Syndrome	Telangiectasia, Intraventricular hemorrhage, Conjunctival telangiectasia	ORPHA:420741
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Fanconi Anemia	Abnormality of the urinary system, Hydroureter, Recurrent urinary tract infections, Renal insuffi...	ORPHA:84
Congenital Fibrinogen Deficiency	Microphthalmia	ORPHA:335
Rubinstein-Taybi Syndrome 1	Failure to thrive, Self-mutilation, Hydronephrosis, Hyperactivity, Truncal obesity, Hypospadias, ...	OMIM:180849
Floating-Harbor Syndrome	Nephrocalcinosis, Glandular hypospadias, Hydronephrosis, Aggressive behavior, Hypospadias, Congen...	OMIM:136140
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Oroticaciduria, Stage 5 chronic kidney disease, Pancreatitis	OMIM:222700
Cranioectodermal Dysplasia 2	Renal cyst, Recurrent pneumonia, Cholangitis, Renal insufficiency	OMIM:613610
Charge Syndrome	Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis, Attention deficit hyperactivity disorder...	ORPHA:138
Chromosome 13Q33-Q34 Deletion Syndrome	Short stature, Anencephaly, Encephalocele, Microphthalmia	OMIM:619148
Warburg Micro Syndrome 2	Postnatal growth retardation, Microphthalmia	OMIM:614225
Sarcoidosis	Nephrocalcinosis, Parotitis, Renal insufficiency, Nephrolithiasis, Hypercalciuria, Keratoconjunct...	ORPHA:797
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Rheumatoid arthritis, Hepatitis, Iridocyclitis, Keratoconjunctivitis sicca, T...	ORPHA:227990
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Digeorge Syndrome	Unilateral renal agenesis, Obesity, Renal insufficiency, Hypocalcemia, Hydronephrosis, Attention ...	OMIM:188400
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Decreased circulating iron concentration, Vesicoureteral reflux, Nephrolithiasis, Hydronephrosis,...	ORPHA:438213
Cohen Syndrome	Short stature, Intrauterine growth retardation, Delayed puberty, Microphthalmia	ORPHA:193
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hydronephrosis, Micropenis, Failure to thrive	ORPHA:83617
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Aymé-Gripp Syndrome	Proteinuria, Pericarditis	ORPHA:1272
Norrie Disease	Hypoplasia of the iris, Buphthalmos, Microphthalmia	OMIM:310600
Walker-Warburg Syndrome	Anophthalmia, Microphthalmia	ORPHA:899
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria, Motor stereotypy, Cerebral hemorrhage	OMIM:616682
Manitoba Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	OMIM:248450
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Severe short stature, Chylothorax, Lymphedema, Pleural effusion, Anophthalmia, Microphthalmia, Edema	ORPHA:2526
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Martsolf Syndrome 1	Short stature, Microphthalmia	OMIM:212720
Campomelic Dysplasia	Hydronephrosis, Hypospadias, Failure to thrive	OMIM:114290
Viss Syndrome	Iliac artery aneurysm, Pulmonary artery aneurysm, Aortic root aneurysm, Bruising susceptibility, ...	OMIM:619472
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Rheumatoid arthritis, Hepatitis, Hashimoto thyroiditis, Iridocyclitis, Kerato...	ORPHA:227982
Lacrimoauriculodentodigital Syndrome	Renal hypoplasia, Vesicoureteral reflux, Corneal neovascularization, Hydronephrosis, Dysphagia	ORPHA:2363
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hypertrophic cardiomyopathy, Mitral regurgitation, Renal hypoplasia/aplasia, Hydronephrosis, Abno...	ORPHA:363700
Mosaic Trisomy 1	Polyhydramnios, Increased nuchal translucency, Microphthalmia	ORPHA:1692
Xeroderma Pigmentosum, Complementation Group B	Short stature, Microphthalmia	OMIM:610651
Blau Syndrome	Nephropathy, Posterior uveitis, Keratitis, Stage 5 chronic kidney disease, Clear cell renal cell ...	ORPHA:90340
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Osteogenesis Imperfecta	Aortic regurgitation, Arterial dissection, Aortic root aneurysm, Bruising susceptibility, Aortic ...	ORPHA:666
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Yellow Fever	Acute kidney injury, Anuria, Renal insufficiency, Skin rash, Acute pancreatitis	ORPHA:99829
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Encephalocele, Microphthalmia	OMIM:613150
Okamoto Syndrome	Aortic valve stenosis, Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Hydroneph...	ORPHA:2729
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ...	ORPHA:2636
Oculodentodigital Dysplasia, Autosomal Recessive	Short stature, Microphthalmia	OMIM:257850
Microphthalmia, Syndromic 3	Optic nerve aplasia, Postnatal growth retardation, Anophthalmia, Microphthalmia, Short stature, O...	OMIM:206900
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Rhizomelia, Anophthalmia, Microphthalmia	OMIM:615877
Holoprosencephaly-Postaxial Polydactyly Syndrome	Polyhydramnios, Umbilical hernia, Encephalocele, Microphthalmia	ORPHA:2166
Coffin-Siris Syndrome 1	Renal hypoplasia, Hydroureter, Hydronephrosis, Aggressive behavior, Ectopic kidney, Compulsive be...	OMIM:135900
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Osteogenesis Imperfecta, Type Vii	Hydronephrosis	OMIM:610682
Townes-Brocks Syndrome	Renal hypoplasia, Renal insufficiency, Vesicoureteral reflux, Multiple renal cysts, Ectopic kidne...	ORPHA:857
Trichothiodystrophy 1, Photosensitive	Short stature, Microphthalmia	OMIM:601675
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Atelis Syndrome 2	Remnants of the hyaloid vascular system	OMIM:620185
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hydroureter, Failure to thrive, Hydronephrosis, Abnormality of the upper urinary tract, Abnormali...	ORPHA:2273
Meningioma	Syncope, Cerebral hemorrhage	ORPHA:2495
Marburg Hemorrhagic Fever	Uveitis, Renal insufficiency, Skin rash, Orchitis, Pancreatitis, Arthritis, Maculopapular exanthe...	ORPHA:99826
Hydrolethalus Syndrome 1	Hydronephrosis, Hypospadias, Stillbirth	OMIM:236680
Acute Transverse Myelitis	Subarachnoid hemorrhage, Hypertension, Orthostatic hypotension	ORPHA:139417
Wiedemann-Rautenstrauch Syndrome	Failure to thrive, Recurrent urinary tract infections, Slender build, Wide penis, Vesicoureteral ...	ORPHA:3455
Williams-Beuren Syndrome	Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Recurrent otitis media, R...	OMIM:194050
Leptospirosis	Acute kidney injury, Uveitis, Hepatitis, Skin rash, Optic neuritis, Cellular urinary casts, Peric...	ORPHA:509
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dilation of Virchow-Robin spaces, Retinal arteriolar tortuosity, Ischemic stroke, Corneal neovasc...	OMIM:175780
Scorpion Envenomation	Acute kidney injury, Ketonuria, Glycosuria, Myocarditis, Acute pancreatitis	ORPHA:466677
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Microphthalmia	OMIM:253800
Chromosome 8Q21.11 Deletion Syndrome	Growth delay, Microphthalmia	OMIM:614230
Fanconi Anemia, Complementation Group N	Postnatal growth retardation, Microphthalmia	OMIM:610832
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Robinow Syndrome, Autosomal Dominant 1	Hydronephrosis, Micropenis, Right ventricular outlet tract obstruction, Renal duplication	OMIM:180700
Fanconi Anemia, Complementation Group C	Short stature, Intrauterine growth retardation, Microphthalmia	OMIM:227645
Doors Syndrome	Hydronephrosis, Nephrocalcinosis, Abnormality of the urinary system, Increased urine alpha-ketogl...	ORPHA:79500
Oculoauricular Syndrome	Spina bifida occulta, Macular hypoplasia, Phthisis bulbi, Microphthalmia, Microphakia	OMIM:612109
Peters Plus Syndrome	Multicystic kidney dysplasia, Renal duplication, Renal hypoplasia/aplasia, Hydronephrosis, Ureter...	ORPHA:709
Dubowitz Syndrome	Hypoplasia of the iris, Postnatal growth retardation, Intrauterine growth retardation, Microphtha...	OMIM:223370
Sotos Syndrome	Renal agenesis, Hypercalcemia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction...	ORPHA:821
Mycophenolate Mofetil Embryopathy	Hydrops fetalis, Microphthalmia	ORPHA:268249
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short stature, Postnatal growth retardation, Rhizomelia, Microphthalmia	OMIM:608940
Curry-Jones Syndrome	Occipital meningocele, Lipomyelomeningocele, Microphthalmia	OMIM:601707
Degcags Syndrome	Chronic kidney disease, Pneumonia, Renal hypoplasia, Bilateral renal dysplasia, Bilateral renal h...	OMIM:619488
Townes-Brocks Syndrome 1	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureth...	OMIM:107480
Kabuki Syndrome 1	Hydronephrosis, Crossed fused renal ectopia, Ureteropelvic junction obstruction, Micropenis	OMIM:147920
Pseudotrisomy 13 Syndrome	Encephalocele, Microphthalmia	OMIM:264480
Johanson-Blizzard Syndrome	Hypospadias, Urethrovaginal fistula, Dilated cardiomyopathy, Failure to thrive, Portal hypertensi...	OMIM:243800
Genitopatellar Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Micropenis, Dysphagia	OMIM:606170
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Severe short stature, Rhizomelia, Microphthalmia	ORPHA:85167
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia	OMIM:601812
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Microphthalmia, Buphthalmos, Meningoencephalocele, Optic nerve hypoplasia	OMIM:236670
Charge Syndrome	Renal hypoplasia, Renal agenesis, Horseshoe kidney, Hypocalcemia, Self-mutilation, Hydronephrosis...	OMIM:214800
Incontinentia Pigmenti	Short stature, Spina bifida occulta, Umbilical hernia, Microphthalmia	ORPHA:464
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Neu-Laxova Syndrome 1	Generalized edema, Hydranencephaly, Small placenta, Intrauterine growth retardation, Short umbili...	OMIM:256520
Meckel Syndrome	Oligohydramnios, Aplasia/Hypoplasia of the iris, Encephalocele, Anophthalmia, Microphthalmia, Ane...	ORPHA:564
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Renal hypoplasia, Hydronephrosis, Renal cyst, Hypoplasia of penis, Urethrovaginal fistula	ORPHA:93271
Focal Dermal Hypoplasia	Horseshoe kidney, Bifid ureter, Hydronephrosis, Telangiectasia, Ureteral duplication	OMIM:305600
Acrofacial Dysostosis, Cincinnati Type	Hydronephrosis, Dysphagia, Failure to thrive, Decreased body weight	OMIM:616462
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Short stature, Unilateral microphthalmos	OMIM:618874
Fanconi Anemia, Complementation Group E	Short stature, Microphthalmia	OMIM:600901
Fanconi Anemia, Complementation Group L	Intrauterine growth retardation, Growth delay, Microphthalmia	OMIM:614083
Cornelia De Lange Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Hypoplasia of penis, Hy...	ORPHA:199
Hallermann-Streiff Syndrome	Proportionate short stature, Spina bifida, Microphthalmia	OMIM:234100
Jacobsen Syndrome	Macular hypoplasia, Intrauterine growth retardation, Microphthalmia	OMIM:147791
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Webbed penis, Aortic valve stenosis, Multicystic kidney dysplasia, Failure to thrive, Bruxism, Ve...	ORPHA:261537
Momo Syndrome	Short stature, Bilateral microphthalmos	ORPHA:2563
2Q31.1 Microdeletion Syndrome	Short stature, Microphthalmia	ORPHA:251014
Fanconi Anemia, Complementation Group A	Short stature, Microphthalmia	OMIM:227650
Roberts Syndrome	Polyhydramnios, Postnatal growth retardation, Severe intrauterine growth retardation, Microphthalmia	ORPHA:3103
Mowat-Wilson Syndrome	Webbed penis, Aortic valve stenosis, Multicystic kidney dysplasia, Bruxism, Vesicoureteral reflux...	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Webbed penis, Aortic valve stenosis, Multicystic kidney dysplasia, Failure to thrive, Duplication...	ORPHA:261552
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Encephalocele, Microphthalmia	OMIM:616300
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Simpson-Golabi-Behmel Syndrome, Type 1	Duplication of renal pelvis, Cardiomyopathy, Nephroblastoma, Hydronephrosis, Renal cyst, Arrhythm...	OMIM:312870
Monosomy 9Q22.3	Umbilical hernia, Microphthalmia	ORPHA:77301
Linear Nevus Sebaceus Syndrome	Growth delay, Microphthalmia	ORPHA:2612
Fraser Syndrome 2	Oligohydramnios, Microphthalmia	OMIM:617666
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Peters-Plus Syndrome	Renal hypoplasia, Decreased body weight, Hydronephrosis, Ureteral duplication, Hypospadias, Pulmo...	OMIM:261540
Acrofrontofacionasal Dysostosis 1	Short stature, Microphthalmia	OMIM:201180
Witteveen-Kolk Syndrome	Intracranial hemorrhage	OMIM:613406
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Tubulointerstitial nephritis, Cholangitis, Aminoaciduria, Lacticaciduria	OMIM:124000
African Trypanosomiasis	Myelitis, Keratitis, Renal insufficiency, Optic neuritis, Myocarditis, Urinary incontinence, Conj...	ORPHA:3385
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Postnatal growth retardation, Intrauterine growth retardation, Short st...	ORPHA:93325
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Intrauterine growth retardation, Oligohydramnios, Microphthalmia	OMIM:608670
Myhre Syndrome	Intrauterine growth retardation, Birth length less than 3rd percentile, Microphthalmia, Pericardi...	OMIM:139210
Otopalatodigital Syndrome, Type Ii	Hydronephrosis, Hypospadias, Stillbirth	OMIM:304120
Monosomy 13Q14	Short stature, Intrauterine growth retardation, Microphthalmia	ORPHA:1587
Meckel Syndrome, Type 1	Occipital encephalocele, Intrauterine growth retardation, Large placenta, Oligohydramnios, Microp...	OMIM:249000
Incontinentia Pigmenti	Hypoplasia of the fovea, Short stature, Microphthalmia	OMIM:308300
Histiocytoid Cardiomyopathy	Pulmonary edema, Congenital aphakia, Microphthalmia	ORPHA:137675
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Intrauterine growth retardation, Microphthalmia, Polyhydramnios, Short stature	OMIM:620186
Kenny-Caffey Syndrome, Type 2	Severe short stature, Microphthalmia	OMIM:127000
Phace Association	Optic nerve hypoplasia, Microphthalmia	OMIM:606519
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Exercise-Induced Malignant Hyperthermia	Acute kidney injury, Oliguria	ORPHA:466650
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Costello Syndrome	Renal insufficiency	OMIM:218040
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hydronephrosis, Renal dysplasia, Cardiomyopathy	ORPHA:480880
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Severe postnatal growth retardation, Intrauterine growth retardation, Microphthalmia	OMIM:620005
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Short stature, Optic nerve hypoplasia, Spina bifida, Microphthalmia	ORPHA:508498
Acro-Renal-Ocular Syndrome	Postnatal growth retardation, Optic disc hypoplasia, Microphthalmia	ORPHA:959
Basal Cell Nevus Syndrome 1	Spina bifida, Microphthalmia	OMIM:109400
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Short stature, Intrauterine growth retardation, Microphthalmia	OMIM:616975
22Q11.2 Deletion Syndrome	Umbilical hernia, Intrauterine growth retardation, Spina bifida, Microphthalmia, Polyhydramnios, ...	ORPHA:567
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Microphthalmia	ORPHA:2250
Trichothiodystrophy	Intrauterine growth retardation, Bilateral microphthalmos, Umbilical hernia	ORPHA:33364
Microgastria-Limb Reduction Defect Syndrome	Growth delay, Anophthalmia, Microphthalmia	ORPHA:2538
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system	ORPHA:637
Igg4-Related Dacryoadenitis And Sialadenitis	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Thyroiditis, Myositis	ORPHA:79078
Hallermann-Streiff Syndrome	Proportionate short stature, Microphthalmia	ORPHA:2108
Sialuria	Attention deficit hyperactivity disorder, Increased level of N-acetylneuraminic acid in urine	OMIM:269921
Yunis-Varon Syndrome	Bilateral microphthalmos, Postnatal growth retardation, Increased nuchal translucency, Microphtha...	ORPHA:3472
Treacher-Collins Syndrome	Branchial fistula, Encephalocele, Microphthalmia	ORPHA:861
Bartsocas-Papas Syndrome 1	Intrauterine growth retardation, Microphthalmia	OMIM:263650
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Rothmund-Thomson Syndrome, Type 2	Short stature, Microphthalmia	OMIM:268400
Pmm2-Cdg	Hypoalbuminemia, Failure to thrive, Hypertrophic cardiomyopathy, Reduced thyroxin-binding globuli...	ORPHA:79318
Fanconi Anemia, Complementation Group D2	Short stature, Microphthalmia	OMIM:227646
Aicardi Syndrome	Postnatal growth retardation, Spina bifida, Microphthalmia	OMIM:304050
Holoprosencephaly 2	Cyclopia, Iris coloboma, Remnants of the hyaloid vascular system, Chorioretinal coloboma	OMIM:157170
Fontaine Progeroid Syndrome	Umbilical hernia, Intrauterine growth retardation, Oligohydramnios, Microphthalmia, Short stature	OMIM:612289
Hereditary Sensory And Autonomic Neuropathy Type 4	Chronic kidney disease, Fasciitis, Osteomyelitis, Septic arthritis, Recurrent aspiration pneumonia	ORPHA:642
Linear Skin Defects With Multiple Congenital Anomalies 1	Short stature, Microphthalmia	OMIM:309801
Chromosome 13Q14 Deletion Syndrome	Umbilical hernia, Growth delay, Microphthalmia	OMIM:613884
Eisenmenger Syndrome	Bacterial endocarditis, Renal insufficiency	ORPHA:97214
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Severe short stature, Intrauterine growth retardation, Bilateral microphthalmos, Optic nerve hypo...	ORPHA:468631
Osteoporosis-Pseudoglioma Syndrome	Short stature, Phthisis bulbi, Microphthalmia	OMIM:259770
Aicardi Syndrome	Delayed puberty, Microphthalmia	ORPHA:50
Holoprosencephaly 7	Occipital meningocele, Bilateral microphthalmos, Microphthalmia	OMIM:610828
Microphthalmia With Limb Anomalies	Short stature, True anophthalmia, Microphthalmia	ORPHA:1106
Microphthalmia, Syndromic 2	Iris coloboma, Retinal detachment, Remnants of the hyaloid vascular system	OMIM:300166
Mend Syndrome	Short stature, Microphthalmia	ORPHA:401973
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Microphthalmia With Linear Skin Defects Syndrome	Severe short stature, Growth delay, Anophthalmia, Microphthalmia	ORPHA:2556
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Holoprosencephaly 9	Anophthalmia, Microphthalmia, Short stature, Occipital meningocele, Optic nerve hypoplasia	OMIM:610829
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Skin Creases, Congenital Symmetric Circumferential, 2	Short stature, Microphthalmia	OMIM:616734
Neuroocular Syndrome 1	Lens coloboma, Iris coloboma, Remnants of the hyaloid vascular system	OMIM:619539
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Microphthalmia	ORPHA:306542
Traboulsi Syndrome	Microphthalmia	OMIM:601552
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Phace Syndrome	Lens coloboma, Optic nerve hypoplasia, Microphthalmia	ORPHA:42775
Monosomy 9P	Microphthalmia	ORPHA:261112
8Q24.3 Microdeletion Syndrome	Infancy onset short-trunk short stature, Branchial cyst, Bilateral microphthalmos, Intrauterine g...	ORPHA:508488
Adams-Oliver Syndrome 1	Encephalocele, Microphthalmia	OMIM:100300
Renpenning Syndrome 1	Short stature, Microphthalmia	OMIM:309500
Fraser Syndrome	Umbilical hernia, Myelomeningocele, Encephalocele, Anophthalmia, Microphthalmia	ORPHA:2052
Pallister-Hall Syndrome	Umbilical hernia, Intrauterine growth retardation, Oligohydramnios, Microphthalmia, Short stature	ORPHA:672
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Proboscis Lateralis	Optic nerve hypoplasia, Anophthalmia, Microphthalmia	ORPHA:141099
Norrie Disease	Optic atrophy, Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Hypoplasia of the retina, Microphthalmia	OMIM:253280
Alström Syndrome	Chronic kidney disease, Detrusor sphincter dyssynergia, Recurrent pneumonia, Functional abnormali...	ORPHA:64
Branchiooculofacial Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Branchial anomaly, Anophthalmia, M...	OMIM:113620
Holoprosencephaly 1	Short stature, Microphthalmia	OMIM:236100
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
Fraser Syndrome 1	Myelomeningocele, Encephalocele, Anophthalmia, Bilateral microphthalmos	OMIM:219000
Roberts-Sc Phocomelia Syndrome	Postnatal growth retardation, Microphthalmia, Frontal encephalocele, Severe intrauterine growth r...	OMIM:268300
Tetraamelia Syndrome 1	Microphthalmia	OMIM:273395
Mowat-Wilson Syndrome	Short stature, Microphthalmia	OMIM:235730
Microphthalmia, Syndromic 6	Anophthalmia, Microphthalmia	OMIM:607932
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Craniofacial Microsomia 1	Branchial anomaly, Occipital encephalocele, Anophthalmia, Microphthalmia	OMIM:164210
Microphthalmia, Syndromic 1	Growth delay, Anophthalmia, Microphthalmia	OMIM:309800
Gne Myopathy	Cardiomyopathy	ORPHA:602
Nonaka Myopathy	Elevated circulating creatine kinase concentration	OMIM:605820
Sialuria	Attention deficit hyperactivity disorder, Prolonged prothrombin time	ORPHA:3166

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Gne

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gne.

No publications found that use IMPC mice or data for Gne.

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MGI Allele	Allele Type	Produced
Gne^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Gne^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Gne^em1(IMPC)Mbp	Exon Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Gne MGI:1354951

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Gross Morphology Embryo E9.5

MicroCT E9.5

X-ray

Human diseases caused by Gne mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data