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Gene: Crim1 MGI:1354756

Gene Summary

Name:

cysteine rich transmembrane BMP regulator 1

Synonyms:

N/A

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	System	Allele	Zyg	Sex	Life Stage	P Value
trunk curl		Crim1^{em1(IMPC)Wtsi}	HET		Early adult	2.06×10^-05
preweaning lethality, complete penetrance		Crim1^{em1(IMPC)Wtsi}	HOM		Early adult	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.

DSS Histology

Images

8 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Anti-nuclear antibody assay

Images

4 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Legacy Phenotype Associated Images

Crim1^{em1(IMPC)Wtsi}
HET, Male, WTSI

View all 50 images

Crim1^{em1(IMPC)Wtsi}
HOM, Male, WTSI

Crim1^{em1(IMPC)Wtsi}
HOM, Female, WTSI

Crim1^{em1(IMPC)Wtsi}
eye, abnormal eye morphology, corneal opacity, eye opacity, WT, Female, WTSI

Crim1^{em1(IMPC)Wtsi}
abnormal retinal pigmentation, HET, Female, WTSI

Human diseases caused by Crim1 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 Crim1 (0 diseases)
Human diseases predicted to be associated with Crim1 (1653 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Crim1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Nephrotic Syndrome, Type 24	Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac...	OMIM:619263
Nephrotic Syndrome, Type 23	Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome...	OMIM:619201
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta...	OMIM:620049
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy	Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus	OMIM:182690
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616893
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler...	OMIM:615573
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Focal Segmental Glomerulosclerosis 5	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Mi...	OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Hypertension	OMIM:607832
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne...	ORPHA:228302
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Oculorenocerebellar Syndrome	Glomerular sclerosis, Nephropathy	OMIM:257970
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:600995
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease	OMIM:614455
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea...	OMIM:614377
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Focal Segmental Glomerulosclerosis 1	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Re...	OMIM:603278
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Hypertension, ...	OMIM:602088
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ...	OMIM:620056
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
2p15-16.1 microdeletion syndrome	Hydronephrosis	DECIPHER:70
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Nephronophthisis 1	Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hypertension,...	OMIM:256100
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst...	ORPHA:157
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:617731
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst	OMIM:615987
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i...	OMIM:613944
Gombo Syndrome	Microphthalmia, Clinodactyly, Radial deviation of finger, Brachydactyly	OMIM:233270
Syndactyly Type 1	Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand	ORPHA:93402
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Abnormality of the urinary system, Hydronephrosis	ORPHA:2669
Syndactyly, Type Iii	Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger	OMIM:186100
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo...	OMIM:616892
Nephronophthisis 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy	OMIM:611498
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, Proteinu...	ORPHA:63
Holzgreve Syndrome	Hand polydactyly, Renal agenesis, Renal hypoplasia	OMIM:236110
Nephrotic Syndrome, Type 22	Podocyte foot process effacement, Stage 5 chronic kidney disease, Thickened glomerular basement m...	OMIM:619155
Crome Syndrome	Renal tubular epithelial necrosis	OMIM:218900
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab...	ORPHA:3246
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Hydronephrosis	ORPHA:1450
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopath...	OMIM:231680
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Heart block, Red-brown urine, Renal tubular epithelia...	ORPHA:228308
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology	OMIM:602114
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Macdermot-Winter Syndrome	Death in infancy, Hydronephrosis	OMIM:247990
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, D...	ORPHA:49041
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Gout, Renal cyst, Focal segmental glomerulosclerosis, Nephropathy	OMIM:617056
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Microscopic hemat...	OMIM:161900
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Proteinuria, Glomerular deposits, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Hallux Varus And Preaxial Polysyndactyly	Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus	OMIM:234280
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypertension, Aminoaciduria, Glycosuria, Tubulointer...	OMIM:618913
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Proteinuria, Atrial fibrillation, Cardiac ...	ORPHA:439232
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Dilated cardiomyopat...	OMIM:616730
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis	OMIM:216950
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Renal Caliceal Diverticuli-Deafness Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticomedullary differ...	OMIM:263200
Immunodeficiency, Common Variable, 6	Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco...	OMIM:613496
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Stage 5 chronic kidney disease, Gout, Hypertension, Polycysti...	OMIM:618061
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t...	ORPHA:617
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria, Hypertension	ORPHA:2820
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k...	ORPHA:1652
Galloway-Mowat Syndrome 6	Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis	OMIM:618347
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d...	OMIM:617730
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i...	OMIM:161950
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Recurrent otitis...	OMIM:615993
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Gout, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular fi...	OMIM:162000
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Bilateral renal hyp...	ORPHA:2260
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Podocyte foot p...	OMIM:615008
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren...	OMIM:256300
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria	ORPHA:419
Mpdu1-Cdg	Abnormal circulating enzyme concentration or activity, Eczema, Renal cortical cysts	ORPHA:79323
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Intellectual Disability-Spasticity-Ectrodactyly Syndrome	Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t...	ORPHA:1891
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Brachydactyly, Type A2	Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul...	OMIM:112600
Congenital Disorder Of Glycosylation, Type If	Death in infancy, Renal cortical cysts, Erythroderma	OMIM:609180
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:656
Interstitial Pneumonitis, Desquamative, Familial	Tubulointerstitial fibrosis	OMIM:263000
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce...	OMIM:611555
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Pulmona...	ORPHA:567548
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocyte foot proces...	OMIM:617006
Frasier Syndrome	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:136680
Brachydactyly Type A7	Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala...	ORPHA:93397
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria	ORPHA:2613
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Renal insufficiency, Proteinuria, Renal interstitial amyloid deposit...	ORPHA:85450
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Dilated card...	OMIM:618348
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro...	OMIM:618594
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis	OMIM:619428
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, H...	OMIM:614817
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ...	ORPHA:54370
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Decreased liver function, Renal cyst	OMIM:614870
Nephrotic Syndrome, Type 15	Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change...	OMIM:617609
Glycogen Storage Disease Iv	Cardiomyopathy, Hepatic failure, Portal hypertension, Tubulointerstitial fibrosis	OMIM:232500
Renal Hypoplasia, Bilateral	Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin...	ORPHA:97362
Nail-Patella Syndrome	Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Microcornea, Iliac horns, Clinodac...	OMIM:161200
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, Reduced renal corticom...	OMIM:617610
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Hereditary Renal Hypouricemia	Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe...	ORPHA:94088
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,...	OMIM:616818
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Vesicoureteral Reflux 2	Vesicoureteral reflux, Renal hypoplasia	OMIM:610878
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic s...	ORPHA:347
Joubert Syndrome 4	Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop...	OMIM:609583
Reni Syndrome	Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney dise...	OMIM:617575
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Microcephaly, Stage 5 chronic kidney di...	OMIM:619609
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Decreased glomerular filtration rate	OMIM:242530
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:613913
Senior-Loken Syndrome	Hypertension, Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis	ORPHA:3156
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St...	OMIM:616307
Nephronophthisis 15	Elevated hepatic transaminase, Nephronophthisis	OMIM:614845
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s...	OMIM:608709
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Cardiomyopathy, Nephropathy, Abnormal renal tu...	ORPHA:1909
Joubert Syndrome 22	Postaxial hand polydactyly, Renal hypoplasia, 2-3 toe syndactyly, Postaxial foot polydactyly, Mic...	OMIM:615665
Syndactyly Type 5	Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl...	ORPHA:93406
Coach Syndrome 3	Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht...	OMIM:619113
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Proteinuria, Nephrolithiasis, Gout, Focal segmental glomeruloscler...	OMIM:232200
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Atypical Hemolytic Uremic Syndrome	Hematuria, Abnormal lactate dehydrogenase level, Acute kidney injury, Proteinuria	ORPHA:2134
Coenzyme Q10 Deficiency, Primary, 1	Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Glo...	OMIM:607426
Nephronophthisis 18	Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri...	OMIM:615862
Hypocalcemia, Autosomal Dominant 1	Nephrocalcinosis, Hypercalciuria, Nephrolithiasis, Decreased glomerular filtration rate	OMIM:601198
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypoplasia of penis, Aplasia/Hypoplasia of the lens, Cataract, Hypospadias, Genu valgum	ORPHA:1381
Preeclampsia/Eclampsia 1	Elevated hepatic transaminase, Hypertension, Proteinuria	OMIM:189800
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I...	OMIM:602522
Galactosemia I	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:230400
Polydactyly, Postaxial, Type A5	Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis	OMIM:263450
Hematuria, Benign Familial, 2	Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology	OMIM:620320
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency	OMIM:249660
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A...	OMIM:615170
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Gastritis, C...	ORPHA:31826
Renal Tubular Dysgenesis	Renotubular dysgenesis, Nephropathy, Proximal tubulopathy, Multiple renal cysts	ORPHA:3033
Crossed Polysyndactyly	Finger syndactyly, Hypoplasia of penis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyly	ORPHA:2935
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Proteinuria, Pneumonia, Skin rash, Raynaud phenomenon, Punctate vasc...	ORPHA:247691
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, Stage 5 chronic kidney disease, Renal cyst, Neonatal death, Hydron...	OMIM:613390
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Pulmonary embolism, Chronic kidney disease, Stage 5 chronic ki...	ORPHA:567546
Rhyns Syndrome	Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Edema, Chronic kidney disease, Stage 5 chronic kidney d...	OMIM:615244
Syndactyly Type 3	Finger syndactyly, Short toe, Camptodactyly of finger	ORPHA:93404
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Hydronephrosis, Pulmonic stenosis	OMIM:264140
Lcat Deficiency	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney injury, Decreased ...	ORPHA:650
Nephronophthisis 16	Renal insufficiency, Patent ductus arteriosus, Stage 5 chronic kidney disease, Aortic valve steno...	OMIM:615382
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Redundant neck skin, Single transverse palmar crease, Renal hypoplasia, Renal cyst, 2-3 toe synda...	OMIM:236500
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Orthostatic hypotension, Sta...	OMIM:191800
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure...	ORPHA:276621
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Proteinuria, Nephrolithiasis, Gout, Focal segmental glomeruloscler...	OMIM:232220
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Intellectual Developmental Disorder, Autosomal Recessive 33	Syndactyly, Short toe	OMIM:614341
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Senior-Loken Syndrome 7	Nephronophthisis	OMIM:613615
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Jaundice, Renal cyst, Hypertrophic cardiomyop...	OMIM:619902
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Reduced xanthine dehydrogenase level, Xanthine ...	ORPHA:3467
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
X-Linked Intellectual Disability, Schimke Type	Vesicoureteral reflux, Hydronephrosis	ORPHA:85285
Image Syndrome	Hypospadias, Hydronephrosis	ORPHA:85173
Orthostatic Hypotension 2	Orthostatic hypotension, Decreased glomerular filtration rate	OMIM:618182
8P23.1 Duplication Syndrome	Hydronephrosis, Pulmonic stenosis	ORPHA:251076
Joubert Syndrome 5	Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr...	OMIM:610188
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	2-4 toe syndactyly, Syndactyly	OMIM:241000
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Cat-Eye Syndrome	Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:195
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Dent Disease 2	Elevated circulating aspartate aminotransferase concentration, Chronic kidney disease, Elevated c...	OMIM:300555
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Arrhyth...	ORPHA:225
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl...	OMIM:609432
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Hypoplasia of penis, Finger syndactyly, Polyhydramnios, Aplasia/Hypoplasi...	ORPHA:2256
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Nephrotic syndrome, Hypert...	ORPHA:84090
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Elevated circulating alkaline phosphatase concentration, Renal cyst	OMIM:174050
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia	ORPHA:71289
Bardet-Biedl Syndrome 19	Hydronephrosis, Renal insufficiency, Patent ductus arteriosus, Renal hypoplasia	OMIM:615996
Thyrocerebrorenal Syndrome	Renal insufficiency, Nephritis	ORPHA:3327
Xanthinuria, Type I	Reduced xanthine dehydrogenase level, Xanthine nephrolithiasis, Xanthinuria, Pyelonephritis, Hydr...	OMIM:278300
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Renal corticomedu...	OMIM:243910
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Recu...	ORPHA:79404
Primary Hyperoxaluria Type 1	Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn...	ORPHA:93598
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Bardet-Biedl Syndrome 4	Abnormality of the kidney, Renal cyst	OMIM:615982
Igg4-Related Kidney Disease	Renal interstitial immunoglobulin deposits, Lymphadenitis, Sterile pyuria, Tubulointerstitial nep...	ORPHA:449395
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Hydroureter, Hydronephrosis	OMIM:618240
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Renal insufficiency, Recurrent urinary tract infections, Proteinur...	OMIM:619487
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3316
Liebenberg Syndrome	Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl...	OMIM:186550
Orofaciodigital Syndrome Xv	Hydronephrosis	OMIM:617127
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Vesicoureteral reflux, Elevated circulating alkaline phosphatase concentration, Renal cortical cysts	OMIM:618548
Tubulointerstitial Nephritis And Uveitis Syndrome	Nongranulomatous uveitis, Anterior uveitis, Skin rash, Intermediate uveitis, Renal neutrophilic t...	ORPHA:91500
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Renal insufficiency, Proteinuria, Abnormality of the k...	ORPHA:85443
Joubert Syndrome 35	Recurrent urinary tract infections, Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:618161
Preeclampsia	Elevated hepatic transaminase, Proteinuria, Abnormality of the kidney, Chronic kidney disease, El...	ORPHA:275555
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S...	OMIM:104200
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Galloway-Mowat Syndrome 9	Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:619603
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Mitochondrial Complex I Deficiency, Nuclear Type 20	Death in infancy, Dicarboxylic aciduria, Congestive heart failure, Dilated cardiomyopathy, Death ...	OMIM:611126
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failure...	ORPHA:29072
Adenine Phosphoribosyltransferase Deficiency	Abnormal circulating enzyme concentration or activity, Renal insufficiency, Recurrent urinary tra...	ORPHA:976
Acropectoral Syndrome	Preaxial hand polydactyly, Finger syndactyly	ORPHA:85203
Systemic Sclerosis	Renal insufficiency, Pericarditis, Proteinuria, Glomerulonephritis, Abnormality of the kidney, Ri...	ORPHA:90291
Mucopolysaccharidosis-Plus Syndrome	Proteinuria, Congestive heart failure, Patent ductus arteriosus, Recurrent pneumonia, Death in ch...	OMIM:617303
Ocular Motor Apraxia	Nephronophthisis	OMIM:257550
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
6P22 Microdeletion Syndrome	Patent ductus arteriosus, Hydronephrosis	ORPHA:251046
Chromosome 2Q35 Duplication Syndrome	Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly	OMIM:185900
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
C Syndrome	Patent ductus arteriosus, Renal cortical cysts	OMIM:211750
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ...	ORPHA:488627
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Renal agenesis, Upper limb phocomelia, Polydactyly, Abnormal hip bone morphology	ORPHA:294975
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Proteinuria	OMIM:614652
Pierson Syndrome	Diffuse mesangial sclerosis, Edema, Hypoplasia of the iris, Death in childhood, Nephrotic syndrom...	OMIM:609049
Systemic Lupus Erythematosus	Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis	OMIM:152700
Myh9-Related Disease	Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria...	ORPHA:182050
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Patent ductus arteriosus, Albuminuria, Aminoaciduria, Prolonged neonatal jaundice, D...	OMIM:214100
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Glycogen Storage Disease Ic	Renal insufficiency, Proteinuria, Spider hemangioma, Chronic pancreatitis, Gout, Hematuria, Focal...	OMIM:232240
Orofaciodigital Syndrome Xvii	Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me...	OMIM:617926
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo...	OMIM:609057
Congenital Myopathy 19	Renal atrophy, Hydronephrosis	OMIM:618578
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Supraventricular arrhythmia, Raynaud phenomenon, Retinal hemorrhage, Renal c...	OMIM:611773
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated hepatic transaminase, Renal insufficiency, Hypospadias, Renal cortical cysts, Hyperechog...	ORPHA:397715
Urofacial Syndrome 1	Recurrent urinary tract infections, Urethral valve, Hydroureter, Urethral obstruction, Enuresis, ...	OMIM:236730
Cystic Hamartoma Of Lung And Kidney	Hypertension, Multicystic kidney dysplasia	ORPHA:2111
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi...	ORPHA:2704
Complement Factor I Deficiency	Recurrent urinary tract infections, Renal insufficiency, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Mosaic Trisomy 1	Renal cortical cysts, Micropenis, Penile hypospadias, Renal cyst	ORPHA:1692
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Death in infancy, Tricuspid regurgitation, Hypospadias, Elevated circulatin...	OMIM:614866
Jeune Syndrome	Nephropathy, Renal insufficiency, Nephronophthisis	ORPHA:474
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Renal agenesis, Ectopic kidney, Hypoplasia of t...	OMIM:212780
Split-Hand/Foot Malformation 6	Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly	OMIM:225300
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Ketonuria, Single transverse palmar crease, Renal hypoplasia, Microphthalmia, Oligohydramnios	OMIM:619053
Complement Component 3 Deficiency, Autosomal Recessive	Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneu...	OMIM:613779
Thrombotic Thrombocytopenic Purpura	Renal insufficiency, Proteinuria, Myocardial infarction, Abnormal lactate dehydrogenase level, He...	ORPHA:54057
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Amyloidosis, Familial Visceral	Proteinuria, Skin rash, Hematuria, Nephrotic syndrome, Hypertension, Nephropathy	OMIM:105200
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl...	ORPHA:488232
Combined Oxidative Phosphorylation Deficiency 33	Cardiac arrest, Cardiomyopathy, Nephrotic syndrome, Astigmatism, Cerebral edema, Oligohydramnios	OMIM:617713
Cerebrooculofacioskeletal Syndrome 3	Talipes equinovarus, Microphthalmia, Rocker bottom foot, Edema	OMIM:616570
Cednik Syndrome	Nephrotic syndrome, Proteinuria, Congestive heart failure	ORPHA:66631
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis...	ORPHA:340
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Bardet-Biedl Syndrome 5	Syndactyly, Micropenis, Polydactyly, Brachydactyly	OMIM:615983
Split-Hand/Foot Malformation 1	Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly, Ectrodact...	OMIM:183600
Spinal Muscular Atrophy With Mental Retardation	Syndactyly	OMIM:271109
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Hypertension, Glomerular sclerosis, Abnormal renal physiology	OMIM:223900
Schimke Immuno-Osseous Dysplasia	Proteinuria, Transient ischemic attack, Minimal change glomerulonephritis, Congestive heart failu...	ORPHA:1830
Lecithin:Cholesterol Acyltransferase Deficiency	Renal insufficiency, Proteinuria, Decreased lecithin cholesterol acyl transferase level	OMIM:245900
Bardet-Biedl Syndrome 3	Renal hypoplasia, Postaxial polydactyly, Brachydactyly	OMIM:600151
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:254900
Acquired Partial Lipodystrophy	Glomerulopathy, Microscopic hematuria, Proteinuria	ORPHA:79087
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Hypospadias, Bowing of the long bones, Micromeli...	OMIM:614091
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Abnormality of the urethra, Aplasia of the bladder, Abnormality of the urinary s...	ORPHA:158684
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Multiple renal cysts	ORPHA:2924
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Death in infancy, Giant cell hepatitis, Proteinuria, Jaundice, Nep...	OMIM:613404
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Vasculitis, Hematuria, Arthritis	ORPHA:375
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Lens coloboma, 2-3 toe syndactyly, Renal hypoplasia, Small thenar eminence, Joint con...	OMIM:618914
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Acute hepatic failure, Renal insufficiency, Elevated hepatic transam...	OMIM:276700
Split-Hand/Foot Malformation 3	Split hand, Renal hypoplasia, Camptodactyly	OMIM:246560
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Abnormal circulating enzyme concentration or activity, Proteinuria, Epistaxis, Thyroiditis, Nephr...	ORPHA:79259
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:617729
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Patent ductus arteriosus, Hydronephrosis	OMIM:619797
Alkaptonuria	Elevated urinary homogentisic acid, Nephrolithiasis, Arthritis, Decreased glomerular filtration r...	OMIM:203500
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Death in infancy, Cystic renal dysplasia, Ectopic kidney	OMIM:613730
Lessel-Kubisch Syndrome	Renal insufficiency, Renal hypoplasia	OMIM:618681
Nephronophthisis 19	Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid...	OMIM:616217
Combined Oxidative Phosphorylation Deficiency 24	Focal segmental glomerulosclerosis	OMIM:616239
Peroxisome Biogenesis Disorder 11A (Zellweger)	Elevated hepatic transaminase, Multiple renal cysts, Decreased liver function, Renal cyst	OMIM:614883
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Hydronephrosis	OMIM:598500
Senior-Loken Syndrome 9	Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:616629
Schimke Immunoosseous Dysplasia	Renal insufficiency, Proteinuria, Transient ischemic attack, Stage 5 chronic kidney disease, Foca...	OMIM:242900
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Card...	OMIM:614922
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Death in infan...	OMIM:619355
Joubert Syndrome 20	Renal cyst	OMIM:614970
Beckwith-Wiedemann Syndrome	Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Cardiomyopathy, Vesicoureteral reflux, N...	OMIM:130650
Aa Amyloidosis	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid...	ORPHA:85445
Heme Oxygenase 1 Deficiency	Proteinuria, Epistaxis, Elevated circulating aspartate aminotransferase concentration, Diffuse al...	OMIM:614034
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Microphthalmia, Isolated 4	Microphthalmia, Postaxial polydactyly	OMIM:613094
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Polyhydramnios, Abnormality of the upp...	ORPHA:2547
Desmoid Tumor	Gastrointestinal hemorrhage, Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:873
Joubert Syndrome 7	Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Coenzyme Q10 Deficiency, Primary, 8	Renal dysplasia, Hypertension, Abnormal renal corticomedullary differentiation	OMIM:616733
Joubert Syndrome 15	Micropenis, Nephronophthisis	OMIM:614464
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis...	OMIM:610205
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Rhizomelia, Short iliac bones, Metaphyseal widening, Stage 5 chr...	OMIM:614376
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Viral hepatitis, Renal insufficiency, Membranoproliferative glomerul...	ORPHA:91139
Meier-Gorlin Syndrome 8	Unilateral renal hypoplasia, Nephroptosis	OMIM:617564
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic...	OMIM:613159
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Elevated circulating alanine aminotransferase concentration, Proteinuria, Elevated circ...	OMIM:620010
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Acyl-Coa Dehydrogenase 9 Deficiency	Dicarboxylic aciduria, Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dil...	ORPHA:99901
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Preaxial hand polydactyly, Renal hypoplasia, Hypertrophy of the urinary bladder, Urethral obstruc...	OMIM:601389
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Congenital Nephrotic Syndrome, Finnish Type	Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology	ORPHA:839
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer...	OMIM:603860
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria, Hypertension	ORPHA:1192
Autoinflammatory-Pancytopenia Syndrome	Intestinal inflammation, Membranoproliferative glomerulonephritis, Proteinuria, Chilblains	OMIM:619858
Lysinuric Protein Intolerance	Elevated hepatic transaminase, Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Tubulo...	ORPHA:470
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hydronephrosis, Pulmonic stenosis, Facial telangiectasia	OMIM:620141
Genitopalatocardiac Syndrome	Hypospadias, Renal cyst	OMIM:231060
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Duane-Radial Ray Syndrome	Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoure...	OMIM:607323
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology	OMIM:609886
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas	OMIM:134610
Multicentric Carpotarsal Osteolysis Syndrome	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Bilateral renal a...	OMIM:166300
Endove Syndrome, Limb-Brain Type	Recurrent urinary tract infections, Neurogenic bladder, Osteomyelitis, Hydronephrosis	OMIM:619218
Denys-Drash Syndrome	Proteinuria, Nephrotic syndrome, Hypertension, Nephropathy, Nephroblastoma	ORPHA:220
Say Syndrome	Proximal renal tubular acidosis, Cystic renal dysplasia	OMIM:181180
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Medium chain dicarboxylic aciduria, Hyperglycinuria, Cerebral edema	OMIM:201450
Vesicoureteral Reflux 3	Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Hydroureter, Grade III vesico...	OMIM:613674
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Absent thumb, Short thumb, Hypoplasia of the radius, Abnormal renal morph...	OMIM:609053
Tetraploidy	Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:3305
Lujo Hemorrhagic Fever	Shock, Renal insufficiency, Purpura, Facial edema, Myocarditis, Periorbital edema, Excessive blee...	ORPHA:319213
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Overlapping fingers, Overlapping toe, Unilateral renal agenesis, Increased nuchal translucency, R...	OMIM:618494
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Cataract, Proteinuria, Microcephaly, Pachygyria...	OMIM:251300
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Hypospadias, Renal agenesis, Renal hypoplasia, Radiouln...	ORPHA:171839
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,...	OMIM:613090
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t...	OMIM:614748
Maple Syrup Urine Disease	Increased level of hippuric acid in urine, Cerebral edema	OMIM:248600
Bresek Syndrome	Hypoplasia of the bladder, Optic nerve hypoplasia, Postaxial hand polydactyly, Renal hypoplasia, ...	ORPHA:85284
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3	Syndactyly, Postaxial hand polydactyly	OMIM:615938
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Clinodactyly, Microphthalmia, Brachydactyly, Syndactyly	OMIM:610023
Adams-Oliver Syndrome 6	Syndactyly, Foot oligodactyly, Renal hypoplasia, Brachydactyly	OMIM:616589
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Hypospadias, Jaundice, Galactosuria, Pulmonic stenosis, Hepatic failure, Re...	OMIM:222470
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly	OMIM:600384
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Reversible Cerebral Vasoconstriction Syndrome	Abnormal bleeding, Transient ischemic attack, Cerebral hemorrhage, Subarachnoid hemorrhage, Intra...	ORPHA:284388
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Raynaud phenomenon, Rheumatoid arthritis, Recurrent sinusitis, Recurrent otitis media,...	OMIM:607944
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Moderate albuminuria, Periodontitis, Hydronephrosis	OMIM:619269
Thyrocerebroretinal Syndrome	Nephritis	OMIM:274240
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Williams-Beuren Region Duplication Syndrome	Chronic otitis media, Patent ductus arteriosus, Hydronephrosis, Unilateral renal agenesis	OMIM:609757
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia	ORPHA:1166
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
Distal Duplication 6P	Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia	ORPHA:1745
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Elevated hepatic transaminase, Anterior uveitis, Inflammatory abnormal...	ORPHA:95455
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Hydronephrosis	OMIM:607598
Complement Component 4A Deficiency	Vasculitis, Glomerulonephritis	OMIM:614380
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Abnormal morphology of ulna, T...	ORPHA:1307
Prune Belly Syndrome	Patent ductus arteriosus, Hydroureter, Congenital posterior urethral valve, Hydronephrosis	OMIM:100100
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Arachnodactyly, Lens subluxation, Microphakia	ORPHA:171844
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis	OMIM:618060
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis	OMIM:602418
Even-Plus Syndrome	Epiphyseal dysplasia, Recurrent urinary tract infections, Renal hypoplasia, Vesicoureteral reflux...	OMIM:616854
Meckel Syndrome, Type 8	Anophthalmia, Pericardial effusion, Polydactyly, Talipes equinovarus, Polycystic kidney dysplasia...	OMIM:613885
Glycogen Storage Disease Xi	Myoglobinuria, Renal insufficiency	OMIM:612933
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Vesicoureteral reflux, Hydronephrosis	OMIM:618265
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome	2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J...	OMIM:225280
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency	OMIM:261670
Dystonia 31	Abnormal posturing	OMIM:619565
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Raynaud phenomenon, Discoid lu...	ORPHA:93552
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Proteinuria	OMIM:261100
Recombinant Chromosome 8 Syndrome	Patent ductus arteriosus, Hydronephrosis, Pulmonic stenosis	OMIM:179613
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2668
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Citrullinemia, Type Ii, Adult-Onset	Argininosuccinic aciduria, Cerebral edema	OMIM:603471
Adams-Oliver Syndrome 4	Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Mi...	OMIM:615297
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Rhizomelia, Renal hypoplasia, Unilateral renal agenesis	OMIM:617661
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Renal insufficiency, Jaundice, Stage 5 chronic kidney disease...	OMIM:613095
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia	OMIM:614859
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy...	ORPHA:93409
Joubert Syndrome 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:608629
Brain Malformations With Or Without Urinary Tract Defects	Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis	OMIM:613735
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:301050
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Nephronophthisis, Hepatic failure	OMIM:615630
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Mmep Syndrome	Microphthalmia, Split foot, Triphalangeal thumb	ORPHA:3434
Polysyndactyly With Cardiac Malformation	Stillbirth, Hepatic cysts, Renal cyst	OMIM:263630
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Patent ductus arteriosus, Hydronephrosis	OMIM:300048
Diaphanospondylodysostosis	Multiple renal cysts	ORPHA:66637
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Death in infancy, Giant cell hepatitis, Jaundice, Nephrocalcinosis...	OMIM:208085
Endove Syndrome, Limb-Only Type	Vesicoureteral reflux, Hydronephrosis	OMIM:619217
Coach Syndrome 1	Elevated hepatic transaminase, Unilateral renal agenesis, Portal hypertension, Multiple small med...	OMIM:216360
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hypertrophic cardiomyopathy, Proteinuria, Abnormality of the kidney	ORPHA:369
Joubert Syndrome 18	Renal cyst, Horseshoe kidney	OMIM:614815
2Q24 Microdeletion Syndrome	Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux...	ORPHA:1617
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hypertension, Mitral regurgitation, Polycystic kidney dysplasia, Hepatic cysts	OMIM:173900
Wild Type Attr Amyloidosis	Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive heart failure, ...	ORPHA:330001
15Q11Q13 Microduplication Syndrome	Clinodactyly of the 5th finger, Finger syndactyly	ORPHA:238446
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Viral hepatitis, Proteinuria, V...	ORPHA:91138
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot, Abnormal...	DECIPHER:46
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Netherton Syndrome	Skin rash, Eczema, Ectopic kidney, Aminoaciduria, Erythroderma, Hydronephrosis	ORPHA:634
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Increased circulating lactate dehydrogenase concentration, Myoglobinuria, Acute kidney injury	OMIM:268200
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Cataract, Dilated cardiomyopathy, Cerebral atrophy, Abnormal cerebral white matter m...	OMIM:618321
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury	OMIM:160010
Congenital Disorder Of Glycosylation, Type Ib	Hepatic failure, Proximal tubulopathy, Renal cyst, Death in childhood	OMIM:602579
Dural Sinus Malformation	Cerebral hemorrhage, Subarachnoid hemorrhage, Cerebellar hemorrhage, Subdural hemorrhage, Intracr...	ORPHA:97339
Plasminogen Deficiency, Type I	Conjunctivitis, Nephritis, Nephrolithiasis, Periodontitis	OMIM:217090
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Abnormality of the elbow	ORPHA:3268
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Papillary renal cell carcinoma, Recurrent pancreatitis, Polycystic kidney dyspla...	OMIM:145001
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Hydronephrosis	ORPHA:2083
Rhyns Syndrome	Renal insufficiency, Chronic kidney disease, Nephronophthisis	OMIM:602152
Tetrasomy 15Q26	Patent ductus arteriosus, Hydronephrosis, Horseshoe kidney	OMIM:614846
Schizophrenia 1	Partially duplicated kidney, Syndactyly, Renal agenesis, Ectopic kidney, Short proximal phalanx o...	OMIM:181510
Kniest Dysplasia	Enlarged epiphyses, Aplasia/Hypoplasia of the lens, Cataract, Abnormality of the epiphysis of the...	ORPHA:485
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Joubert Syndrome 37	Micropenis, Hydronephrosis	OMIM:619185
Ritscher-Schinzel Syndrome 1	Aortic valve stenosis, Hypospadias, Hydronephrosis, Pulmonic stenosis	OMIM:220210
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Distal 16P11.2 Microdeletion Syndrome	Proteinuria, Abnormality of the kidney, Renal agenesis, Chronic kidney disease, Vesicoureteral re...	ORPHA:261222
Alagille Syndrome 1	Duplicated collecting system, Elevated hepatic transaminase, Multiple small medullary renal cysts...	OMIM:118450
Laurence-Moon Syndrome	Finger syndactyly, Hypoplasia of penis, Renal insufficiency, Bilateral single transverse palmar c...	ORPHA:2377
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Nephritis, Renal dysplasia, Pyelonephritis	OMIM:314300
Toluene Embryopathy	Hydronephrosis, Abnormal localization of kidney	ORPHA:1920
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Death in infancy, Renal insufficiency, Proteinuria, Pancreatic cysts, Jaundice, Chronic kidney di...	OMIM:208500
Fraser Syndrome 2	Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Cutaneous syndactyly, Ureteral agene...	OMIM:617666
Melas	Wolff-Parkinson-White syndrome, Proteinuria, Cardiac conduction abnormality, Dilated cardiomyopat...	ORPHA:550
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Microphtha...	OMIM:617914
Igg4-Related Aortitis	Ascending tubular aorta aneurysm, Increased inflammatory response, Thoracic aortic aneurysm, Hydr...	ORPHA:449400
Peroxisome Biogenesis Disorder 4A (Zellweger)	Death in infancy, Renal cyst	OMIM:614862
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Pneumonia, Glomerulonephritis	OMIM:247800
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Aminoaciduria, E...	OMIM:616026
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Death in infancy, Elevated hepatic tr...	OMIM:608836
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hypertension, Hepatic cysts, Decreased liver function, Polycystic kidney dysplasia	OMIM:600666
Fanconi Anemia, Complementation Group F	Polyhydramnios, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Renal...	OMIM:603467
Verheij Syndrome	Renal agenesis, Optic nerve hypoplasia, Hip dislocation, Renal hypoplasia, Renal cyst, Short 5th ...	OMIM:615583
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Elevated hepatic transaminase, Abnormal circulating enzyme conc...	ORPHA:79303
Wolfram Syndrome 1	Cardiomyopathy, Neurogenic bladder, Hydroureter, Hydronephrosis	OMIM:222300
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Elevated circulating aspartate aminotransferase concentration, Intr...	OMIM:617093
Brachydactyly, Type B2	Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:611377
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Death in infancy, Proteinuria, Hematuria, Tubulointerstitial nephritis, Death in childhood	OMIM:616901
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617874
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ...	ORPHA:3250
Biemond Syndrome Type 2	Microphthalmia, Preaxial polydactyly, Hypospadias	ORPHA:141333
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Nephrocalcinosis, Cardiomyopathy,...	ORPHA:445038
Senior-Boichis Syndrome	Elevated hepatic transaminase, Thickening of the tubular basement membrane, Portal hypertension, ...	ORPHA:84081
Diabetic Embryopathy	Ureteral duplication, Micropenis, Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:1926
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Proteinuria, Renal artery stenosis	OMIM:209010
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:2364
Gapo Syndrome	Tubulointerstitial fibrosis	OMIM:230740
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Rocker bottom foot, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylglutaconic aciduria,...	OMIM:604273
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis	OMIM:314000
9Q21.13 Microdeletion Syndrome	Hydronephrosis	ORPHA:531151
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap...	ORPHA:1263
Axial Osteomalacia	Renal cyst	OMIM:109130
Bardet-Biedl Syndrome 6	Hypospadias, Renal cyst	OMIM:605231
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Hydronephrosis	ORPHA:488613
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Kcnq2-Related Epileptic Encephalopathy	Abnormal globus pallidus morphology, Cerebral atrophy, Abnormal cerebral white matter morphology,...	ORPHA:439218
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi...	ORPHA:105
Odontochondrodysplasia 1	Death in infancy, Polycystic kidney dysplasia, Nephronophthisis	OMIM:184260
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Abnormality of the upper urinary tract, Hypovolemia, Renal tubular dysfunction, Glycos...	ORPHA:99885
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Prune Belly Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infection...	ORPHA:2970
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,...	ORPHA:1834
Kury-Isidor Syndrome	Recurrent otitis media, Hydronephrosis	OMIM:619762
Weill-Marchesani Syndrome 3	Ectopia lentis, Microspherophakia, Shallow anterior chamber, Pulmonic stenosis, Aortic valve sten...	OMIM:614819
22Q11.2 Duplication Syndrome	Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis	ORPHA:1727
Alstrom Syndrome	Elevated hepatic transaminase, Renal insufficiency, Chronic active hepatitis, Congestive heart fa...	OMIM:203800
Gitelman Syndrome	Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Renal Fanconi sy...	ORPHA:358
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypertension, Macroscopic hematuria, Enlar...	ORPHA:251004
Hyperglycinemia, Lactic Acidosis, And Seizures	Hypertrophic cardiomyopathy, Cerebral edema, Cerebral atrophy, Microcephaly	OMIM:614462
Imerslund-Grasbeck Syndrome 2	Proteinuria	OMIM:618882
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Tricuspid stenosis, Patent ductu...	ORPHA:391641
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Urethral atresia, Hydronephrosis, Enlarged kidney	OMIM:314390
X-Linked Intellectual Disability, Snyder Type	Long toe, Arachnodactyly, Hypospadias, Ectopic kidney, Megalencephaly, Slender toe, Camptodactyly...	ORPHA:3063
Trisomy 17P	Hypoplasia of penis, Urethral valve, Patent ductus arteriosus, Urethral stenosis, Polycystic kidn...	ORPHA:261290
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Corneal opacity...	ORPHA:137675
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral re...	OMIM:137920
Glioblastoma	Abnormal cerebral white matter morphology, Cerebral edema, Abnormal corpus callosum morphology	ORPHA:360
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Superficial dermal p...	ORPHA:284426
Familial Acute Necrotizing Encephalopathy	Abnormal putamen morphology, Choroid hemorrhage, Cerebral edema	ORPHA:88619
Free Sialic Acid Storage Disease	Nephrotic syndrome, Proteinuria	ORPHA:834
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Chronic kidney disease, Proximal renal tubular acidosis, Thickened glomerular baseme...	OMIM:146255
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Hematuria, Hypertension, Abnormal renal physiology	OMIM:123550
Pseudo-Torch Syndrome 3	Death in infancy, Proteinuria, Cerebral hemorrhage, Lymphadenitis, Hypertension, Acute kidney injury	OMIM:618886
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis, Cardiac shunt	OMIM:305800
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Tachycardia, Elevated circulating aspartate aminotransferase conce...	OMIM:614921
Trisomy 13	Patent ductus arteriosus, Abnormality of the ureter, Multiple renal cysts, Displacement of the ur...	ORPHA:3378
Joubert Syndrome 6	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:610688
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Death in infancy, Hypospadias, Microcephaly, Lacticaciduria, Conc...	OMIM:252010
Pallister-Hall Syndrome	Ectopic kidney, Renal cyst, Micropenis, Distal shortening of limbs, Syndactyly, Mesoaxial foot po...	OMIM:146510
Meckel Syndrome 12	Ureteral hypoplasia, Rocker bottom foot, Renal hypoplasia, Bilateral renal agenesis, Oligohydramnios	OMIM:616258
Oculoauricular Syndrome	Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Macular hypoplasia, Poste...	OMIM:612109
Suleiman-El-Hattab Syndrome	Hydronephrosis	OMIM:618950
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Membranoproliferative glomerulonephritis, Elevated circulating asp...	OMIM:619525
Acral Self-Healing Collodion Baby	Edema of the dorsum of feet, Edema of the dorsum of hands, Erythema, Lack of skin elasticity, Pal...	ORPHA:281127
Glycogen Storage Disease Due To Aldolase A Deficiency	Myoglobinuria, Acute kidney injury, Reduced circulating aldolase concentration, Arrhythmia	ORPHA:57
Pyruvate Dehydrogenase E1-Alpha Deficiency	Abnormal medullary pyramid morphology, Recurrent aspiration pneumonia	ORPHA:79243
Zellweger Syndrome	Death in infancy, Multicystic kidney dysplasia, Hypospadias, Jaundice, Hepatic failure, Hydroneph...	ORPHA:912
17Q12 Microduplication Syndrome	Microphthalmia, Toe syndactyly, Finger syndactyly, Polyhydramnios	ORPHA:261272
Citrullinemia Type Ii	Enuresis, Cerebral edema	ORPHA:247585
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Renal hypoplasia, Patellar hypoplasia, Vesicoureteral reflux, Brachydactyly	ORPHA:464288
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Hypert...	OMIM:612925
Combined Oxidative Phosphorylation Deficiency 9	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:614582
Cystic Echinococcosis	Elevated hepatic transaminase, Jaundice, Renal cyst, Membranous nephropathy, Elevated circulating...	ORPHA:400
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Fanconi Anemia, Complementation Group W	Abnormal radial ray morphology, Hypoplasia of the radius, Renal hypoplasia, Absent thumb	OMIM:617784
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R...	OMIM:300554
Burn-Mckeown Syndrome	Renal hypoplasia, Unilateral renal agenesis, 2-3 toe syndactyly	OMIM:608572
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of the hand, Aplasia...	OMIM:113000
Matthew-Wood Syndrome	Anophthalmia, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Microphthalmia	ORPHA:2470
Distal Triplication 15Q	Abnormality of the kidney, Patent ductus arteriosus, Dilatation of the renal pelvis, Horseshoe ki...	ORPHA:314588
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Uveitis, Hematuria, Ar...	ORPHA:36412
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Elevated hepatic transaminase, Proteinuria, Raynaud phenomenon, Punc...	OMIM:192315
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Nephrotic syndrome, Mucopolysacchariduria, Proteinuria	OMIM:215250
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Renal dysplasia, Recurrent skin infections, Urinary bladder inflammation, Hem...	ORPHA:79403
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Transient ...	ORPHA:183
Bardet-Biedl Syndrome 17	Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst	OMIM:615994
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Vacterl Association With Hydrocephalus	Radial club hand, Renal hypoplasia, Absent thumb	OMIM:276950
Meckel Syndrome, Type 10	Micropenis, Hypospadias, Renal cyst	OMIM:614175
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Cerebral hemorrhage, Patent ductus arteriosus, Bradycardia, Abnorm...	OMIM:617397
Webb-Dattani Syndrome	Vesicoureteral reflux, Neurogenic bladder, Hyposthenuria, Hydronephrosis	OMIM:615926
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Elevated hepatic transaminase, Hypospadias, Abnormal left ventricul...	OMIM:301056
Xk Aprosencephaly Syndrome	Microphthalmia, Polyhydramnios, Abnormal morphology of the radius	ORPHA:3469
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Elevated hepatic transaminase, Esophagitis, Hepatic failure, Hydron...	ORPHA:541423
Mesomelia-Synostoses Syndrome	Hydronephrosis	ORPHA:2496
Zaki Syndrome	Patent ductus arteriosus, Renal agenesis, Hydronephrosis	OMIM:619648
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Vasculitis, Nephrotic syndrome, Malar rash, Nephritis	OMIM:603909
Bardet-Biedl Syndrome	Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia, Hypertension	ORPHA:110
Neurodevelopmental Disorder With Microcephaly, Hypotonia, Nystagmus, And Seizures	Corpus callosum atrophy, Cerebral edema, Cerebral atrophy, Microcephaly	OMIM:619876
Genetic Recurrent Myoglobinuria	Dark urine, Elevated hepatic transaminase, Renal insufficiency, Myositis, Recurrent myoglobinuria...	ORPHA:99845
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Patent ductus arteriosus, Hydronephrosis	OMIM:620327
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, H...	ORPHA:411709
Nanophthalmos	Microphthalmia	ORPHA:35612
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Tachycardia, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney ...	ORPHA:368
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury	OMIM:612926
Marden-Walker Syndrome	Hypospadias, Arachnodactyly, Renal hypoplasia, Radioulnar synostosis, Talipes equinovarus, Campto...	OMIM:248700
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria	ORPHA:100024
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormal ...	ORPHA:2141
Trisomy 1Q	Patent ductus arteriosus, Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis	ORPHA:261344
Intellectual Disability, Buenos-Aires Type	Hydronephrosis	ORPHA:3079
Granulomatosis With Polyangiitis	Sinusitis, Otitis media, Chronic otitis media, Glomerulopathy, Ureteral stenosis, Vasculitis, Pro...	ORPHA:900
Microcephaly 26, Primary, Autosomal Dominant	Recurrent pneumonia, Hydronephrosis	OMIM:619179
Spondylo-Ocular Syndrome	Cataract, Microphthalmia, Aplasia/Hypoplasia of the lens, Iris hypopigmentation	ORPHA:85194
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Microcornea, Coloboma, Triphalangeal thumb, Chorioretinal coloboma, Vesico...	ORPHA:959
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoaciduria, Renal artery stenosis, Hydroneph...	OMIM:617913
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Portal hypertension, Megacystis, Hepatic failure, Hydronephrosis	OMIM:619431
Cystinosis	Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Aminoaciduria, ...	ORPHA:213
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cerebral white matter atrophy, Cerebral edema, Leukoencephalopathy, Death in childhood	OMIM:617186
Microphthalmia With Limb Anomalies	Anophthalmia, Toe syndactyly, Single transverse palmar crease, Sandal gap, Capitate-hamate fusion...	OMIM:206920
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis	OMIM:619362
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Micropenis, Hypospadias, Hydronephrosis	OMIM:616897
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:308940
Melnick-Needles Syndrome	Vesicoureteral reflux, Hydronephrosis	ORPHA:2484
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 4	Cerebral edema	OMIM:614212
Camptobrachydactyly	Syndactyly, Urinary incontinence, Short toe, Hand polydactyly, Congenital finger flexion contract...	OMIM:114150
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis	ORPHA:1297
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Cerebral vasculitis, Abnormal cerebral white matter morphology, Cerebral edema	ORPHA:83601
X-Linked Intellectual Disability Due To Gria3 Mutations	Micropenis, Hydronephrosis	ORPHA:364028
Meckel Syndrome, Type 5	Bowing of the long bones, Postaxial hand polydactyly, Renal cyst, Postaxial foot polydactyly, Mic...	OMIM:611561
Familial Mediterranean Fever	Acute hepatic failure, Pericarditis, Proteinuria, Skin rash, Myocardial infarction, Orchitis, Ost...	ORPHA:342
Tarp Syndrome	Subdural hemorrhage, Horseshoe kidney, Neonatal death, Hepatic failure, Hydronephrosis	OMIM:311900
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria	ORPHA:2774
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha...	ORPHA:370010
Isolated Split Hand-Split Foot Malformation	Finger syndactyly, Split hand, Absent hand, Aniridia, Oligodactyly	ORPHA:2440
Phosphoglycerate Kinase 1 Deficiency	Renal insufficiency, Exercise-induced myoglobinuria	OMIM:300653
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury	OMIM:612924
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Acute pancreatitis, Glutaric aciduria, Congestive heart failure, L...	ORPHA:26791
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Death in childhood, Aminoaciduria, Ren...	OMIM:220110
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Johanson-Blizzard Syndrome	Death in infancy, Hypoplasia of penis, Hypospadias, Hydronephrosis	ORPHA:2315
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	ORPHA:436271
Noonan Syndrome 4	Ureteral duplication, Hypertrophic cardiomyopathy, Hydronephrosis, Pulmonic stenosis	OMIM:610733
Moebius Syndrome	Syndactyly, Brachydactyly, Clinodactyly, Split hand, Abnormal pelvic girdle bone morphology, Tali...	OMIM:157900
Bardet-Biedl Syndrome 9	Syndactyly, Renal insufficiency, Cataract, Postaxial polydactyly, Postaxial hand polydactyly, Pos...	OMIM:615986
Fabry Disease	Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta...	OMIM:301500
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Congenital Disorder Of Glycosylation, Type Iie	Death in infancy, Neurogenic bladder, Elevated circulating aspartate aminotransferase concentrati...	OMIM:608779
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hematuria, Microphthalmia	OMIM:120433
Ventriculomegaly With Cystic Kidney Disease	Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid...	OMIM:219730
Czeizel-Losonci Syndrome	Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydronephrosis	ORPHA:2437
17Q12 Microdeletion Syndrome	Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasi...	ORPHA:261265
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Renal cyst	ORPHA:2031
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Hypoplasia of penis, Camptodactyly of finger, Abnormality of t...	ORPHA:3138
46,Xy Sex Reversal 4	Renal dysplasia, Ureteropelvic junction obstruction, Recurrent otitis media, Hydronephrosis	OMIM:154230
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Patent ductus arteriosus, Hydronephrosis	ORPHA:457193
Nanophthalmos 4	Microphthalmia	OMIM:615972
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Papa Syndrome	Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Arthritis, Crohn's disease	ORPHA:69126
Legionnaires Disease	Renal insufficiency, Pericarditis, Proteinuria, Myocarditis, Jaundice, Hepatitis, Endocarditis, H...	ORPHA:549
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation	OMIM:618541
Congenital Varicella Syndrome	Microphthalmia, Micromelia	ORPHA:291
Mitochondrial Trifunctional Protein Deficiency 2	Death in infancy, Tricuspid regurgitation, Recurrent myoglobinuria, Cerebral hemorrhage, Elevated...	OMIM:620300
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Tricuspid stenosis, Right ventricular failure, Arterial occlusion,...	ORPHA:100078
Microphthalmia, Syndromic 8	Microphthalmia, Premature skin wrinkling, Split foot	OMIM:601349
Vacterl/Vater Association	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A...	ORPHA:887
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Cerebral edema	OMIM:608033
Amoebiasis Due To Free-Living Amoebae	Abnormal basal ganglia morphology, Abnormal cerebral white matter morphology, Intrarenal abscess,...	ORPHA:68
Al-Gazali Syndrome	Recurrent pneumonia, Hydronephrosis	OMIM:609465
Thrombotic Thrombocytopenic Purpura, Hereditary	Proteinuria, Transient ischemic attack, Myocardial infarction, Hemolytic-uremic syndrome, Jaundic...	OMIM:274150
Transketolase Deficiency	Increased level of ribose in urine, Seborrheic dermatitis, Patent ductus arteriosus, Uveitis, Ren...	ORPHA:488618
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Nephrocalci...	OMIM:615398
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Renal hypoplasia, Tubulointerstitial nephrit...	OMIM:617595
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Absence of renal corticomedullary differentiation, Renal hypoplasia, Hypertension, Recurrent otit...	OMIM:619758
Congenital Disorder Of Glycosylation, Type Il	Polycystic kidney dysplasia	OMIM:608776
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Pulmonary arterial hypertensio...	OMIM:613845
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Tricuspid regurgitation, Proteinuria, Focal segmental glomeruloscl...	OMIM:619127
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Nephropathy, Proteinuria	ORPHA:1765
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Citrullinemia, Classic	Oroticaciduria, Cerebral edema	OMIM:215700
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Skin ulcer	ORPHA:1114
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Dicarboxylic aciduria, Myoglobinuria, Dilated cardiomyopathy, Hepatic ...	OMIM:231530
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Prolonged prothrombin time, Oroticaciduria, Cerebral edema	OMIM:311250
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Chronic otitis media, Renal cyst, Arrhythm...	ORPHA:261494
Pelvis-Shoulder Dysplasia	Syndactyly, Camptodactyly of finger, Fifth finger distal phalanx clinodactyly, Mesomelic/rhizomel...	ORPHA:2839
Carey-Fineman-Ziter Syndrome	Hydronephrosis, Glandular hypospadias, Hypertensive crisis	ORPHA:1358
3C Syndrome	Death in infancy, Hypoplasia of penis, Hypospadias, Pulmonic stenosis, Aortic valve stenosis, Hyd...	ORPHA:7
Greig Cephalopolysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han...	ORPHA:380
Pheochromocytoma	Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ...	OMIM:171300
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyly, Spindle-shaped ...	ORPHA:166024
Becker Muscular Dystrophy	Elevated hepatic transaminase, Abnormal urinary color, Myoglobinuria	ORPHA:98895
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Paten...	ORPHA:33001
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,...	ORPHA:2633
Femoral-Facial Syndrome	Long penis, Abnormal localization of kidney, Polycystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:1988
Japanese Encephalitis	Abnormal substantia nigra morphology, Elbow flexion contracture, Distal upper limb muscle weaknes...	ORPHA:79139
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia	OMIM:211890
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Seckel Syndrome 2	Clinodactyly of the 5th finger, Microphthalmia, Hypospadias, Ectopic kidney	OMIM:606744
Hadziselimovic Syndrome	Renal hypoplasia	OMIM:612946
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Proteinuria, Elevated circulating aspartate aminotransferase concen...	OMIM:227810
Majeed Syndrome	Glomerulopathy, Inflammatory abnormality of the skin, Osteomyelitis, Proteinuria, Acne, Pustule, ...	ORPHA:77297
Pfeiffer Syndrome Type 3	Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney	ORPHA:93260
Micro Syndrome	Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney	ORPHA:2510
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Craniosynostosis, Philadelphia Type	Finger syndactyly	ORPHA:1527
Gordon Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger	ORPHA:376
Acute Disseminated Encephalomyelitis	Hypointensity of cerebral white matter on MRI, Diffuse white matter abnormalities, Abnormal basal...	ORPHA:83597
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatic cysts, Stillbirth, Aortic valve stenosis, Pulmonic stenosis, Hypertrophic cardiomyopathy,...	OMIM:615415
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Facial Clefting, Oblique, 1	Microphthalmia, Deep palmar crease	OMIM:600251
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Psoriasiform dermatitis, Unilateral renal agenesis, Polycys...	ORPHA:2237
Renal Hypodysplasia/Aplasia 1	Hypertension, Bilateral renal agenesis, Proteinuria, Renal dysplasia	OMIM:191830
Hypomelanosis Of Ito	Syndactyly, Cataract, Microcephaly, Cerebral atrophy, Hand polydactyly, Radial deviation of finge...	OMIM:300337
Chromosome 17Q12 Deletion Syndrome	Elevated hepatic transaminase, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent...	OMIM:614527
Congenital Myopathy 17	Overlapping toe, Polyhydramnios, Tapered finger, Clinodactyly, Renal hypoplasia, Hand clenching, ...	OMIM:618975
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Foot ...	ORPHA:1553
Dworschak-Punetha Neurodevelopmental Syndrome	Vesicoureteral reflux, Optic disc hypoplasia, Unilateral renal hypoplasia	OMIM:619955
Summitt Syndrome	Syndactyly	OMIM:272350
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, P...	OMIM:267010
Basel-Vanagaite-Smirin-Yosef Syndrome	Pulmonary arterial hypertension, Recurrent pneumonia, Hypospadias, Hydronephrosis	OMIM:616449
Meckel Syndrome, Type 2	Renal cyst	OMIM:603194
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2715
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna...	ORPHA:1319
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Cardiac arr...	ORPHA:139402
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Finger syndactyly, Anophthalmia, Toe syndactyly, Renal hypoplasia, Short foo...	ORPHA:264200
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Death in infancy, Micropenis, Hepatic failure, Hydronephrosis	OMIM:235255
Argininosuccinic Aciduria	Aminoaciduria, Oroticaciduria, Cerebral edema	OMIM:207900
Immunodeficiency 96	Conjunctival telangiectasia, Multicystic kidney dysplasia, Recurrent otitis media, Eczema	OMIM:619774
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit...	ORPHA:2036
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Cerebral edema	OMIM:237300
Cach Syndrome	Renal hypoplasia, Oligohydramnios	ORPHA:135
Microphthalmia, Syndromic 9	Renal malrotation, Patent ductus arteriosus, Renal hypoplasia, Horseshoe kidney, Pulmonic stenosi...	OMIM:601186
Renal And Mullerian Duct Hypoplasia	Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney	OMIM:266810
Neuraminidase Deficiency	Increased urinary O-linked sialopeptides, Urinary excretion of sialylated oligosaccharides, Prote...	OMIM:256550
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Red-brown urine, Cardiomyopathy, Arrhythmia, Reduced carnitine O-p...	ORPHA:228305
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Aminoaciduria, Proteinuria, Pulmonary hemorrhage	OMIM:603585
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Edema, Bowing of the legs, Polyhydramnios, Short toe, Renal hypoplasia, Bro...	OMIM:269860
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Neonatal death, Myoglobinuria, Decreased liver function	OMIM:602199
Encephalocraniocutaneous Lipomatosis	Pelvic kidney, Hydronephrosis	OMIM:613001
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia,...	ORPHA:83461
Pseudotrisomy 13 Syndrome	Renal agenesis, Postaxial hand polydactyly, Renal hypoplasia, 2-3 toe syndactyly, Postaxial foot ...	OMIM:264480
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Patent ductus arteriosus, Ureteral triplication, Hydronephrosis	OMIM:104350
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Polydacty...	ORPHA:65759
X-Linked Dominant Chondrodysplasia Punctata	Hydronephrosis, Erythroderma	ORPHA:35173
Genitopatellar Syndrome	Multicystic kidney dysplasia, Hydronephrosis	ORPHA:85201
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Microphthalmia	OMIM:614082
Glycogen Storage Disease V	Dark urine, Myoglobinuria	OMIM:232600
Actinic Prurigo	Cheilitis, Pyoderma, Glomerulonephritis	OMIM:174770
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Proteinuria, Glomerulonephritis, Prolonged QRS complex, Myoca...	ORPHA:90068
Koolen-De Vries Syndrome	Ureteral duplication, Hypospadias, Vesicoureteral reflux, Hydronephrosis, Renal duplication	ORPHA:96169
Meckel Syndrome, Type 3	Multicystic kidney dysplasia	OMIM:607361
Pierpont Syndrome	Short toe, Broad palm, Short foot, Deep palmar crease, Short finger, Short palm, Prominent finger...	OMIM:602342
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ...	OMIM:617641
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Proteinuria, Hematuria, Syncope, Renal artery stenosis, Mic...	ORPHA:71273
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Microphthalmia, Lenz Type	Hydroureter, Hypospadias, Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:568
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Heart murmur, Renal cyst, Horseshoe kidney	ORPHA:166035
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Tapered finger	OMIM:618725
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Thoracic aortic aneurysm, Patent ductus arteriosus, Peritonitis, Megacystis, Pyelonephrit...	OMIM:619351
Glycogen Storage Disease Vii	Exercise-induced myoglobinuria, Jaundice, Gout, Hematuria, Increased circulating lactate dehydrog...	OMIM:232800
Meckel Syndrome, Type 4	Renal cyst	OMIM:611134
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
Congenital Disorder Of Glycosylation, Type Iig	Hemolytic-uremic syndrome, Renal insufficiency, Hypospadias, Hydronephrosis	OMIM:611209
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Cardiomyopathy, Reduced left ventricular ejection fraction, Lissencephaly, Pulmonary arterial hyp...	ORPHA:258
Campomelia, Cumming Type	Pancreatic cysts, Death in infancy, Multicystic kidney dysplasia, Multiple renal cysts	ORPHA:1318
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Postaxial polydactyly, Short tibia, Squared iliac bones, Preaxial polydactyly, Renal ...	OMIM:616300
Terminal Osseous Dysplasia	Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh...	OMIM:300244
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Re...	OMIM:618460
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormality of the kidney, Stage 5 chronic kidney disease, Thic...	ORPHA:2614
Ddost-Cdg	Elevated hepatic transaminase, Nephrotic range proteinuria	ORPHA:300536
Cat Eye Syndrome	Renal agenesis, Patent ductus arteriosus, Horseshoe kidney, Pulmonic stenosis, Vesicoureteral ref...	OMIM:115470
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Patent ductus arterio...	ORPHA:2473
Hand-Foot-Genital Syndrome	Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure...	OMIM:140000
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A...	OMIM:135750
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Glomerulopathy, Renal insufficiency, Multicystic kidney dysplasia,...	ORPHA:93111
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Purpura, Radial bowing, Ulnar bowing, Hip dislocatio...	OMIM:605432
Migraine, Familial Hemiplegic, 2	Cerebral edema	OMIM:602481
Sponastrime Dysplasia	Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Coxa vara, Ivory epip...	ORPHA:93357
Sclerosteosis	Finger syndactyly, 2-3 finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand	ORPHA:3152
Mody	Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria	ORPHA:552
Herpes Simplex Virus Encephalitis	Cerebral edema	ORPHA:1930
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Death in infancy, Pericarditis, Proteinuria, Renal cyst, Nephrotic...	OMIM:212065
Familial Or Sporadic Hemiplegic Migraine	Distal upper limb muscle weakness, Cerebral edema	ORPHA:569
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia	OMIM:619980
Chromosome 2P16.1-P15 Deletion Syndrome	Micropenis, Hydronephrosis	OMIM:612513
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Renal insufficiency, Systolic heart murmur, Renal cyst	OMIM:617478
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Tachycardia, Proteinuria, Elevated circulating alkaline phosphatas...	ORPHA:263455
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:713
Autosomal Recessive Spastic Paraplegia Type 20	Hydronephrosis, Dysuria	ORPHA:101000
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Down-sloping shoulders, Renal hypoplasia	OMIM:616817
Pierpont Syndrome	Short toe, Deep palmar crease, Short finger, Prominent fingertip pads, Microphthalmia, Excessive ...	ORPHA:487825
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Uraciluria	OMIM:274270
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Ureterocele, Vesicourete...	ORPHA:2911
Joubert Syndrome 2	Renal insufficiency, Renal cyst, Nephronophthisis	OMIM:608091
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Nephroblastoma, Polydactyly, Syndactyly	OMIM:602501
Erdheim-Chester Disease	Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Congestive heart failure, Hydronephrosis	ORPHA:35687
Hyperphosphatasia-Intellectual Disability Syndrome	Elevated circulating alkaline phosphatase concentration, Hydronephrosis, Telangiectasia	ORPHA:247262
Fibular Hemimelia	Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th...	ORPHA:93323
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia	OMIM:618829
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Patent ductus arteriosus, Renal agenesis, Cyst...	OMIM:220500
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Hypospadias, Optic nerve hypoplasia, Broad hallux, Broad phalanx, Abnormality of the hand, Preaxi...	ORPHA:508498
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Finger syndactyly, Proximal placement of thumb, Abnormal thumb morphology, Abnormal localization ...	ORPHA:1825
Intellectual Developmental Disorder, Autosomal Dominant 53	Micropenis, Hydronephrosis	OMIM:617798
Weaver Syndrome	Finger syndactyly, Hypoplasia of penis, Sandal gap, Camptodactyly of finger, Redundant skin, Larg...	ORPHA:3447
Temtamy Syndrome	Short toe, Genu varum, Clinodactyly of the 5th finger, Microphthalmia, Brachydactyly	ORPHA:1777
Stromme Syndrome	Stillbirth, Bilateral renal hypoplasia, Hydronephrosis	OMIM:243605
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Patent ductus ...	OMIM:614080
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ...	OMIM:171420
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi...	OMIM:600740
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Decreased methionine synthase activity, Renal insufficiency, Proteinuria, Hemolytic-uremic syndro...	OMIM:277400
Cerebrofacioarticular Syndrome	Syndactyly, Hypospadias, Lymphedema, Renal hypoplasia, Talipes equinovarus, Camptodactyly, Caudal...	ORPHA:314679
Joubert Syndrome 14	Intracranial hemorrhage, Hypertension, Renal cyst	OMIM:614424
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Knee osteoar...	ORPHA:2035
Baller-Gerold Syndrome	Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney	ORPHA:1225
Gillessen-Kaesbach-Nishimura Syndrome	Polycystic kidney dysplasia	OMIM:263210
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, Hypospadias, 1-3 toe syndactyly, Preaxial hand polydactyly, P...	OMIM:175700
Mosaic Trisomy 8	Vesicoureteral reflux, Hydronephrosis	ORPHA:96061
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of...	ORPHA:957
Peutz-Jeghers Syndrome	Gastrointestinal hemorrhage, Enlarged polycystic ovaries, Abnormality of the ureter, Renal cell c...	ORPHA:2869
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias	ORPHA:2115
Postinfectious Vasculitis	Cerebral vasculitis, Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative...	ORPHA:48435
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Renal cyst	ORPHA:480536
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Hepatic cysts, Portal hypertension, Pancreatic cysts, Patent ductus arterios...	OMIM:208540
Trisomy 20P	Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne...	ORPHA:261318
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Renal cyst	OMIM:601539
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Elevated hepatic transaminase, Jaundice, Moderate albuminuria	OMIM:614231
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Recurrent otitis media, Heart murmur, Proteinuria, Multiple bladder diverticula	ORPHA:2728
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Death in childhood, Renal insufficiency, Mild proteinuria	OMIM:619147
Visceral Myopathy 1	Megacystis, Hydronephrosis, Urinary retention, Vesicoureteral reflux, Pancreatitis	OMIM:155310
Emanuel Syndrome	Recurrent urinary tract infections, Congenital hip dislocation, Unilateral renal agenesis, Renal ...	OMIM:609029
Microsporidiosis	Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Myocarditis, Lymphadenitis...	ORPHA:2552
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Patent ductus arteriosus, Microscopic hematuria	ORPHA:86818
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Postaxial hand polydactyly, Renal hypoplasia	ORPHA:75389
Immunoglobulin A Vasculitis	Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Episcleritis, Proteinuria, Skin...	ORPHA:761
Acute Liver Failure	Shock, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Intracranial hemo...	ORPHA:90062
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Elevated...	OMIM:619685
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Death in adolescence, Hypertension	OMIM:610965
Fryns Syndrome	Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis	ORPHA:2059
Teebi-Shaltout Syndrome	Aortic valve stenosis, Ureteral stenosis, Hydronephrosis, Horseshoe kidney	OMIM:272950
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Micropenis, Abnormal renal morphology, Hydronephrosis, Hepatic failure	ORPHA:1655
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Abnormality of the upper urinary tract, Abnormality of the urethra...	ORPHA:2145
Angiostrongyliasis	Cerebral edema	ORPHA:74
15Q Overgrowth Syndrome	Tricuspid regurgitation, Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Mi...	ORPHA:314585
Fanconi Anemia, Complementation Group J	Microphthalmia, Short thumb	OMIM:609054
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys...	DECIPHER:81
Takenouchi-Kosaki Syndrome	Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Pulmonic stenosis, Hydronephrosis	OMIM:616737
Galloway-Mowat Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:2065
Musculocontractural Ehlers-Danlos Syndrome	Recurrent skin infections, Functional abnormality of the bladder, Nephrolithiasis, Horseshoe kidn...	ORPHA:2953
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Jaundice, Polycystic kidney dysplasia, Death in childhood	OMIM:214110
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Cataract, Micromelia, Renal hypoplasia...	ORPHA:3258
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Conjunctivitis, Renal cyst	OMIM:615560
Mosaic Trisomy 9	Hypoplasia of penis, Patent ductus arteriosus, Horseshoe kidney, Hydronephrosis, Multiple renal c...	ORPHA:99776
Systemic Lupus Erythematosus	Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Discoid lupus rash, Cheilitis, Hematuri...	ORPHA:536
Diffuse Alveolar Hemorrhage	Hematuria, Pulmonary venous hypertension, Proteinuria	ORPHA:90060
Van Maldergem Syndrome 2	Short fourth metatarsal, Ulnar deviation of the hand, Hypospadias, Renal hypoplasia, Micropenis, ...	OMIM:615546
Cranioectodermal Dysplasia 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:614099
Emanuel Syndrome	Congenital hip dislocation, Redundant neck skin, Unilateral renal agenesis, Renal hypoplasia, Mic...	ORPHA:96170
Microphthalmia With Limb Anomalies	Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge...	ORPHA:1106
2P15P16.1 Microdeletion Syndrome	Aortic regurgitation, Mitral regurgitation, Multicystic kidney dysplasia, Hydronephrosis	ORPHA:261349
Microphthalmia, Isolated 5	Microphthalmia, Cystoid macular edema	OMIM:611040
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Macrodactyly, Sandal gap, Renal hypoplasia	OMIM:612918
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of the 5th fing...	ORPHA:3210
Donnai-Barrow Syndrome	Proteinuria	ORPHA:2143
Gracile Bone Dysplasia	Flared metaphysis, Slender long bone, Aniridia, Microphthalmia, Micropenis, Ascites, Brachydactyly	OMIM:602361
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Hydroureter, Valvular pulmonary stenosis, Vesicoureteral reflux, Cross...	OMIM:300707
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Death in infancy, Recurrent urinary tract infections, Hypoplasia of penis, Abnormality of the kid...	ORPHA:847
Carpenter Syndrome 1	Patent ductus arteriosus, Hydroureter, Hydronephrosis, Pulmonic stenosis	OMIM:201000
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe...	ORPHA:88630
1Q21.1 Microdeletion Syndrome	Vesicoureteral reflux, Patent ductus arteriosus, Hydronephrosis	ORPHA:250989
Branchiootorenal Syndrome 1	Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic...	OMIM:113650
Ectodermal Dysplasia With Mental Retardation And Syndactyly	Dry skin, 3-4 finger syndactyly, 2-3 toe syndactyly	OMIM:600906
Juvenile Nephropathic Cystinosis	Renal insufficiency, Proteinuria, Elevated alkaline phosphatase of bone origin, Chronic kidney di...	ORPHA:411634
Congenital Alveolar Capillary Dysplasia	Pulmonary arterial hypertension, Patent ductus arteriosus, Aortic valve stenosis, Hydronephrosis	ORPHA:210122
Charlie M Syndrome	Finger syndactyly, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology, Brachydactyly	ORPHA:1406
Koolen-De Vries Syndrome	Recurrent urinary tract infections, Eczema, Patent ductus arteriosus, Aortic root aneurysm, Pulmo...	OMIM:610443
Fanconi Renotubular Syndrome 3	Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria	OMIM:615605
Hellp Syndrome	Elevated hepatic transaminase, Proteinuria, Cerebral hemorrhage, Hemoglobinuria, Hypotension, Inc...	ORPHA:244242
Intellectual Developmental Disorder, Autosomal Dominant 4	Syndactyly, Short toe	OMIM:612581
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Ectopic kidney, Proximal placement of thumb, Renal c...	OMIM:122470
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cerebellar hemorrhage, Stage 5 chronic kidney disease, Methylmalonic aciduria, Tubulointerstitial...	OMIM:251000
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should...	ORPHA:1520
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Abnormality of the kidney, Tibial torsion, Aplasia/hypoplasia of the humerus, ...	ORPHA:3320
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Myoglob...	OMIM:620138
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Chondrodysplasia Punctata 2, X-Linked Dominant	Hydronephrosis, Erythroderma	OMIM:302960
8P Inverted Duplication/Deletion Syndrome	Micropenis, Abnormality of the urinary system, Hydronephrosis	ORPHA:96092
Frontonasal Dysplasia 1	Postaxial hand polydactyly, Pectoral muscle hypoplasia/aplasia, Radial deviation of finger, Campt...	OMIM:136760
Spondyloenchondrodysplasia	Proteinuria, Pneumonia, Skin rash, Raynaud phenomenon, Vasculitis, Chronic kidney disease, Hepati...	ORPHA:1855
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping of metacarpals, Hypopl...	OMIM:300863
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Heart murmur, Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis	OMIM:618653
Developmental Delay With Or Without Dysmorphic Facies And Autism	Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Pulm...	OMIM:618454
Holoprosencephaly 3	Hydronephrosis	OMIM:142945
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
12Q14 Microdeletion Syndrome	Clinodactyly of the 5th finger, Renal hypoplasia, Horseshoe kidney, Ectopic kidney	ORPHA:94063
Van Maldergem Syndrome 1	Short fourth metatarsal, Hypospadias, Renal hypoplasia, Cutaneous finger syndactyly, Short clavic...	OMIM:601390
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Triphalangeal ...	ORPHA:2251
Thakker-Donnai Syndrome	Hydronephrosis	ORPHA:1780
Charcot-Marie-Tooth Disease, Type 4B3	Syndactyly, Urinary incontinence, Microcephaly	OMIM:615284
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Hydronephrosis	ORPHA:254528
Hardikar Syndrome	Elevated hepatic transaminase, Hypoplasia of the bladder, Renal insufficiency, Hydroureter, Recur...	OMIM:301068
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Renal cyst, Horseshoe kidney	OMIM:250410
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Death in infancy, Multicystic kidney dysplasia, Hydroureter, Hypoperistalsis, Megacystis	ORPHA:2241
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Nephropathy, Achalasia,...	ORPHA:324
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney	OMIM:608022
Relapsing Polychondritis	Episcleritis, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Chondritis of pinna...	ORPHA:728
Focal Dermal Hypoplasia	Acute hepatic failure, Multicystic kidney dysplasia, Telangiectasia of the skin, Renal hypoplasia...	ORPHA:2092
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Exercise-induced myoglobinuria	ORPHA:352479
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Bowing of the long bones, Rhizomelia, Proximal placement of thumb, Abnormal epiphysis morphology,...	ORPHA:93267
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Epidermal Nevus Syndrome	Polycystic kidney dysplasia, Aortic aneurysm	ORPHA:35125
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Proteinuria, Heparan sulfate excretion in urine, Congestive...	ORPHA:505248
Meckel Syndrome, Type 6	Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney	OMIM:612284
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Portal hyperten...	ORPHA:1454
Alveolar Echinococcosis	Cholangitis, Portal hypertension, Pancreatic cysts, Jaundice, Renal cyst, Budd-Chiari syndrome, D...	ORPHA:284
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Cardiomyopathy, Myoglobinuria	ORPHA:119
Isolated Atp Synthase Deficiency	3-Methylglutaconic aciduria, Renal hypoplasia	ORPHA:254913
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Horseshoe kidney, Vesicoureteral reflux, Erysipelas, Hydronephrosis	OMIM:235510
Silver-Russell Syndrome 1	Syndactyly, Urethral valve, Hypospadias, Abnormality of the ureter, Short distal phalanx of the 5...	OMIM:180860
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Renal dysplasia, Patent ductus arteriosus, Hydronephrosis	OMIM:300968
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Patent ductus arteriosus, Mitral stenosis, Renal dysplasia, Renal cyst	OMIM:617260
Mohr-Tranebjaerg Syndrome	Abnormal posturing	OMIM:304700
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias	ORPHA:2075
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Transient ischemic attack, Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:2995
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts	OMIM:618733
Weill-Marchesani Syndrome 2	Short metatarsal, Broad metacarpals, Short metacarpal, Shallow anterior chamber, Astigmatism, Pul...	OMIM:608328
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral r...	ORPHA:90324
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal dysplasia, Renal insufficiency, Hypoplasia of penis, Renal hypoplasia	ORPHA:85321
Gabriele-De Vries Syndrome	Ureteropelvic junction obstruction, Hydronephrosis	OMIM:617557
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia, Talipes equinovarus	OMIM:616171
Ogden Syndrome	Global glomerulosclerosis, Eczema, Patent ductus arteriosus, Jaundice, Ventricular tachycardia, P...	OMIM:300855
Raine Syndrome	Death in infancy, Hydroureter, Elevated circulating alkaline phosphatase concentration, Neonatal ...	OMIM:259775
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Death in infancy, Necrotizing enterocolitis, Dicarboxylic aciduria, Sudden cardiac death, Exercis...	OMIM:201475
Listeriosis	Pericarditis, Osteomyelitis, Miscarriage, Pneumonia, Pustule, Congestive heart failure, Myocardit...	ORPHA:533
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Renal hypoplasia/aplasia, Elbow dislocation, Aplasia/Hypoplasi...	ORPHA:1112
Orofaciodigital Syndrome Type 1	Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pa...	ORPHA:2750
Glycogen Storage Disease Ixd	Exercise-induced myoglobinuria	OMIM:300559
Cousin Syndrome	Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio...	OMIM:260660
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Shortened QT interval, Nephrolithiasis, Renal cyst, Hyperca...	ORPHA:99880
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Proteinuria, Hypoperistalsis, Keratitis, Chronic kidney disease, Stage 5 chronic kidney disease, ...	ORPHA:1018
Ring Chromosome 10 Syndrome	Microphthalmia, Renal hypoplasia/aplasia, Sandal gap, Tapered finger	ORPHA:1438
Cerebellar-Facial-Dental Syndrome	Ascending tubular aorta aneurysm, Ureteropelvic junction obstruction, Hydronephrosis, Abnormal T-...	ORPHA:444072
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Renal cys...	ORPHA:464311
Goldberg-Shprintzen Megacolon Syndrome	Finger syndactyly, Hypospadias, Microcephaly, Hypoplasia of the corpus callosum, Pachygyria, Iris...	ORPHA:66629
Townes-Brocks Syndrome 1	Short metatarsal, Triphalangeal thumb, Vesicoureteral reflux, 2-4 finger syndactyly, Multicystic ...	OMIM:107480
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi...	OMIM:142900
Tuberous Sclerosis 2	Wolff-Parkinson-White syndrome, Absence of renal corticomedullary differentiation, Renal cyst, Re...	OMIM:613254
Campomelic Dysplasia	Hydronephrosis	ORPHA:140
Myoglobinuria, Recurrent	Recurrent myoglobinuria, Exercise-induced myoglobinuria	OMIM:550500
Mungan Syndrome	Vesicoureteral reflux, Renal hypoplasia	OMIM:611376
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Shortened QT interval, Nephrolithiasis, Renal cyst, Hyperca...	ORPHA:143
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand...	OMIM:609945
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria, Tachycardia, Hypotension	OMIM:145600
Cutis Laxa, Autosomal Recessive, Type Iie	Syndactyly, Genu varum, Hip dislocation, Cutis laxa, Deep palmar crease, Clinodactyly of the 5th ...	OMIM:619451
Penile Agenesis	Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o...	ORPHA:49
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Edema of the dorsum of feet, Edema of the dorsum of hands, Femoral bowing, ...	OMIM:274000
Bartsocas-Papas Syndrome 2	Microphthalmia, 2-5 finger cutaneous syndactyly, Absent distal phalanges, Small hand	OMIM:619339
Cleft-Limb-Heart Malformation Syndrome	Syndactyly	OMIM:215850
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Nephritis, Infectious encephalitis, He...	ORPHA:73263
Tuberous Sclerosis 1	Wolff-Parkinson-White syndrome, Renal angiomyolipoma, Renal cell carcinoma, Renal cyst	OMIM:191100
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent urinary tract infections, Perianal abscess, Patent ductus arteriosus, Urachus fistula, ...	OMIM:612541
Microcephaly 29, Primary, Autosomal Recessive	Reduced renal corticomedullary differentiation, Hyperechogenic kidneys	OMIM:620047
Malakoplakia	Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Orchitis, Urinary bladder ...	ORPHA:556
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Cofs Syndrome	Microphthalmia, Camptodactyly of finger	ORPHA:1466
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Con...	OMIM:609015
Martin-Probst Syndrome	Renal insufficiency, Proteinuria, Telangiectasia, Chordee, Micropenis	OMIM:300519
Au-Kline Syndrome	Chronic kidney disease, Dilatation of the renal pelvis, Hypertension, Aortic root aneurysm, Vesic...	OMIM:616580
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Mckusick-Kaufman Syndrome	Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia	OMIM:236700
Wilson Disease	Acute hepatic failure, Hyperphosphaturia, Proteinuria, Elevated circulating aspartate aminotransf...	OMIM:277900
Basel-Vanagaite-Smirin-Yosef Syndrome	Single transverse palmar crease, Microcornea, Male urethral meatus stenosis, Cavum septum pelluci...	ORPHA:464738
Short Stature, Microcephaly, And Endocrine Dysfunction	Unilateral renal agenesis, Ectopic kidney, Clinodactyly, Renal hypoplasia, Limb undergrowth, Micr...	OMIM:616541
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Absent thumb, Absent radius, Renal hypoplasia, Bilateral talipes equin...	OMIM:614083
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Anemic pallor, Renal agenesis, Absent thumb, Ectopic kidney, Short ...	OMIM:227650
Alkuraya-Kucinskas Syndrome	Cataract, Overlapping toe, Edema, Pericardial effusion, Cutaneous syndactyly, Micropenis, Aplasia...	OMIM:617822
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Hypospadias, Eczema, Unilateral renal agenesis, Patent ductus arteriosus, R...	ORPHA:464306
Scalp-Ear-Nipple Syndrome	Finger syndactyly, Renal insufficiency, Palpebral edema, Unilateral renal agenesis, 3-4 finger cu...	OMIM:181270
Ohdo Syndrome	Proteinuria	OMIM:249620
Joubert Syndrome 39	Polycystic kidney dysplasia	OMIM:619562
Andersen-Tawil Syndrome	Small hand, Renal hypoplasia, 2-3 toe syndactyly, Renal tubular dysfunction, Short foot, Clinodac...	ORPHA:37553
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hyperechogenic kidneys, Polycystic kidney dysplasia	OMIM:617866
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Anemic pallor, Renal agenesis, Absent thumb, Ectopic kidney, Short ...	OMIM:600901
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl...	OMIM:210710
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Otodental Syndrome	Cataract, Lens coloboma, Microcornea, Retinal coloboma, Microphthalmia, Iris coloboma	ORPHA:2791
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Coxa valga, Abnormality of the elbow, Flat acetabular roof, Oligosacchariduria, Hemiatrophy of up...	ORPHA:163649
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short...	OMIM:169550
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Micropenis, Renal agenesis, Hypospadias, Hydronephrosis	OMIM:301040
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Ap...	ORPHA:2538
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Metaphyseal c...	ORPHA:163966
Silver-Russell Syndrome 3	Syndactyly, Small hand, Antecubital pterygium, Clinodactyly of the 5th finger, Penoscrotal hyposp...	OMIM:616489
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Vesicoureteral reflux, Ascending tubular aorta aneurysm, Abnormal bladder morphology, Hydronephrosis	ORPHA:453499
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Polyhydramnios, Clinodactyly of the...	ORPHA:3103
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Tubulointerstitial nephritis, Aortic valve stenosis, Enuresis, Abnormality of the kidney	ORPHA:459061
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Abnormal pelvic girdle bone morphology, Growth arrest lines	OMIM:102700
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, High-output congestive heart failure, Ventricular tachycardia, Premature v...	ORPHA:423
Frontometaphyseal Dysplasia 1	Hydroureter, Hydronephrosis	OMIM:305620
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Recurrent urinary tract infections, Sinusitis, Recurrent pneumonia, ...	OMIM:251260
Autosomal Recessive Cutis Laxa Type 1	Recurrent urinary tract infections, Abnormal cardiac ventricular function, Congestive heart failu...	ORPHA:90349
3Mc Syndrome 1	Conjunctival telangiectasia, Patent ductus arteriosus, Hydronephrosis	OMIM:257920
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Patent ductus arteriosus, Hypercalciuria, Renal cyst, Low alkaline phosphatase, Nephrocalcinosis,...	ORPHA:369837
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s...	OMIM:605282
Craniofacioskeletal Syndrome	Patent ductus arteriosus, Hypospadias, Hydronephrosis	OMIM:300712
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia	ORPHA:3015
Limb-Mammary Syndrome	Hallux valgus, Syndactyly, Split hand, Split foot, Camptodactyly, Joint contracture of the hand	OMIM:603543
Hartsfield Syndrome	Microphthalmia, Aplasia/Hypoplasia of the radius, Split hand	ORPHA:2117
Klippel-Trenaunay-Weber Syndrome	Syndactyly, Macrodactyly, Lymphedema, Hand oligodactyly, Hand polydactyly	OMIM:149000
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Tachycardia, Proteinuria, Urinary incontinence, Pulmonary embolism...	ORPHA:94093
Osteopetrosis With Renal Tubular Acidosis	Abnormal circulating enzyme concentration or activity, Nephrolithiasis, Proximal renal tubular ac...	ORPHA:2785
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Stillbirth, Hydronephrosis, Unilateral renal agenesis	OMIM:308050
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin...	ORPHA:85167
Weill-Marchesani Syndrome 1	Cataract, Ectopia lentis, Microspherophakia, Broad palm, Mitral regurgitation, Shallow anterior c...	OMIM:277600
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Portal hypertension, Pancreatic cysts, Hepatitis, Renal cyst, Polycystic kidney dysplasia	OMIM:610199
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short thumb, Clinodactyly...	OMIM:600325
Agel Amyloidosis	Proteinuria, Stage 5 chronic kidney disease, Cardiomyopathy, Keratoconjunctivitis sicca, Arrhythm...	ORPHA:85448
White-Kernohan Syndrome	Recurrent otitis media, Hydroureter, Hydronephrosis, Horseshoe kidney	OMIM:619426
Developmental Delay With Variable Neurologic And Brain Abnormalities	Cubitus valgus, Microphthalmia, Down-sloping shoulders, Camptodactyly	OMIM:619694
Caroli Disease	Cholangitis, Portal hypertension, Intrahepatic cholestasis, Jaundice, Elevated circulating alanin...	ORPHA:53035
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypospadias, Patent ductus arteriosus, Heart murmur, Intracranial hemorrhage, Micropenis, Hydrone...	ORPHA:163979
Townes-Brocks Syndrome	Hypoplasia of penis, Ectopic kidney, Triphalangeal thumb, Clinodactyly of the 5th finger, Vesicou...	ORPHA:857
Igg4-Related Pachymeningitis	Sinusitis, Lymphadenitis, Nephritis, Pancreatitis, Parotitis	ORPHA:449427
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Renal cyst, Pulmonic stenosis, Micropenis	OMIM:257300
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Urethral atresia, Hydronephrosis	OMIM:271520
Endocrine-Cerebroosteodysplasia	Single transverse palmar crease, Micromelia, Polyhydramnios, Preaxial polydactyly, Tibial bowing,...	OMIM:612651
Joubert Syndrome 1	Nephropathy, Renal cyst	OMIM:213300
Melnick-Needles Syndrome	Ureteral stenosis, Stillbirth, Recurrent otitis media, Pulmonary arterial hypertension, Hydroneph...	OMIM:309350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Insulin-Resistance Syndrome Type B	Proteinuria, Pneumonia, Skin rash, Enlarged polycystic ovaries, Osteoarthritis, Polycystic ovarie...	ORPHA:2298
Radial-Renal Syndrome	Absent radius, Absent thumb, Unilateral renal agenesis, Ectopic kidney	OMIM:179280
Eec Syndrome	Hypospadias, Renal hypoplasia/aplasia, Keratitis, Inflammatory abnormality of the eye, Urethral a...	ORPHA:1896
Phakomatosis Pigmentokeratotica	Lymphedema, Renal transitional cell carcinoma, Unilateral renal hypoplasia, Hemiatrophy, Nephrobl...	ORPHA:2874
Fanconi Anemia, Complementation Group R	Microphthalmia, Pelvic kidney, Radial dysplasia, Absent thumb	OMIM:617244
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduri...	ORPHA:71212
Cutis Laxa, Autosomal Recessive, Type Ic	Death in infancy, Recurrent pneumonia, Multiple bladder diverticula, Death in childhood, Hydronep...	OMIM:613177
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Anophthalmia, Cataract, Proximal placement of thumb, Sclerocornea, Microcephal...	ORPHA:139471
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Hematuria, Microphthalmia	ORPHA:1473
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Myocardial infarction, Pancreatic cysts, Myocarditis, Abnor...	ORPHA:892
Paroxysmal Cold Hemoglobinuria	Abnormal urinary color, Hemoglobinuria	ORPHA:90035
Cerebrooculofacioskeletal Syndrome 1	Rocker bottom foot, Coxa valga, Elbow flexion contracture, Dehydration, Second metatarsal posteri...	OMIM:214150
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di...	ORPHA:805
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Myocardial infarction, Pulmonary embolism, Abn...	ORPHA:447
Acrofacial Dysostosis, Rodríguez Type	Finger syndactyly, Renal hypoplasia/aplasia, Hand oligodactyly, Fibular hypoplasia, Radioulnar sy...	ORPHA:1788
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Eczema, Nephroblastoma	ORPHA:1001
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney	OMIM:619318
Otopalatodigital Syndrome Type 2	Hydronephrosis, Hypospadias, Ureteral obstruction	ORPHA:90652
Refsum Disease	Short metacarpal, Renal insufficiency, Hammertoe, Abnormal epiphysis morphology, Microphthalmia, ...	ORPHA:773
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Renal insufficiency, Recurrent urinary tract infections, Cholangitis...	ORPHA:731
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Finger syndactyly, Toe syndactyly, Hypospadias, Short hallux, Abnormal metacarpal morphology, Cer...	ORPHA:3224
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Micropenis, Camptodactyly of finger, Rocker bottom foot	OMIM:610756
Atelosteogenesis Type I	Multiple renal cysts	ORPHA:1190
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hydroureter, Patent ductus arteriosus, Hypertrophy of the urinary bladder, Unilateral renal dyspl...	ORPHA:280633
Acrofrontofacionasal Dysostosis 2	Syndactyly, Redundant neck skin, Broad hallux, Hypospadias, Hand polydactyly, Broad thumb	OMIM:239710
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated hepatic transaminase, Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumoni...	ORPHA:37042
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Uveitis, Hypertension, Conjuncti...	ORPHA:90321
Braddock-Carey Syndrome 2	Microphthalmia, Clinodactyly	OMIM:619981
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia	ORPHA:261197
Monosomy 5P	Finger syndactyly, Small hand	ORPHA:281
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal localization of kidney,...	ORPHA:3429
Donnai-Barrow Syndrome	Non-acidotic proximal tubulopathy, Proteinuria	OMIM:222448
Osteootohepatoenteric Syndrome	Proteinuria, Grade II vesicoureteral reflux, Prolonged neonatal jaundice	OMIM:619377
Kabuki Syndrome	Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena...	ORPHA:2322
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Rhizomelia, Hypospadias, Sclerocornea, Cataract, 2-3 toe syndactyly, Microcornea, C...	OMIM:615877
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Epistaxis, Pancreatic cysts, Subconjunctival hemorrhage, Multiple renal cyst...	ORPHA:464329
Monosomy 22Q13.3	Recurrent skin infections, Hydronephrosis, Vesicoureteral reflux, Recurrent pyelonephritis, Renal...	ORPHA:48652
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Increase...	OMIM:619879
Cardiofaciocutaneous Syndrome	Hypertrophic cardiomyopathy, Hydronephrosis, Pulmonic stenosis	ORPHA:1340
Cardiofaciocutaneous Syndrome 1	Hypertrophic cardiomyopathy, Atopic dermatitis, Hydronephrosis, Pulmonic stenosis	OMIM:115150
Distal Deletion 12Q	Late onset atopic dermatitis, Ectopic kidney, Patent ductus arteriosus, Polycystic kidney dysplas...	ORPHA:96149
Tarp Syndrome	Hydronephrosis, Horseshoe kidney	ORPHA:2886
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia	ORPHA:3301
Caroli Syndrome	Elevated hepatic transaminase, Abnormality of the kidney, Portal hypertension, Cholangitis, Hemat...	ORPHA:480520
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities	Syndactyly, Microcephaly, Hypoplasia of the corpus callosum, Cerebral white matter hypoplasia, Cl...	OMIM:619091
Von Hippel-Lindau Syndrome	Pancreatic cysts, Hypertension, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst	OMIM:193300
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Aminoacidur...	ORPHA:411629
Cystinosis, Nephropathic	Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Ne...	OMIM:219800
Wagro Syndrome	Hypertension, Nephroblastoma, Proteinuria	OMIM:612469
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Microphthalmia, Anophthalmia	OMIM:164180
Triploidy	Finger syndactyly, Hypoplasia of penis, Cataract, Hypospadias, Polyhydramnios, Aplasia/Hypoplasia...	ORPHA:3376
Gaucher Disease Type 1	Hematuria, Pulmonary arterial hypertension, Osteoarthritis, Proteinuria	ORPHA:77259
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Abnormal left ventricular function, Dilated cardiomyopathy, Exercise-induced myoglobinuria	OMIM:607155
Periventricular Nodular Heterotopia 1	Syndactyly, Cerebral hemorrhage, Hypoplasia of the corpus callosum, Short finger, Clinodactyly, T...	OMIM:300049
Osteoporosis-Pseudoglioma Syndrome	Crumpled long bones, Metaphyseal widening, Abnormal femoral neck/head morphology, Microphthalmia,...	ORPHA:2788
Cardiac Valvular Dysplasia 1	Tricuspid regurgitation, Hydroureter, Tricuspid stenosis, Valvular pulmonary stenosis, Urethral d...	OMIM:212093
7Q11.23 Microduplication Syndrome	Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Enuresis, Chronic otitis media,...	ORPHA:96121
Opitz Gbbb Syndrome	Hypospadias, Patent ductus arteriosus, Aortic root aneurysm, Abnormality of the urinary system, V...	ORPHA:2745
Warburg Micro Syndrome 1	Microphthalmia, Overlapping toe	OMIM:600118
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Lymphedema, Syndactyly, Camptodactyly	OMIM:616006
Cryptococcosis	Pleural effusion, Cerebral cortical atrophy, Cerebral edema	ORPHA:1546
Acquired Generalized Lipodystrophy	Acute pancreatitis, Proteinuria, Abnormal cardiovascular system physiology, Polycystic ovaries, C...	ORPHA:79086
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated hepatic transaminase, Ketonuria, Cardiac arrest, Ventricular tachycardia, Hypertrophic c...	OMIM:616878
Degcags Syndrome	Syndactyly, Recurrent urinary tract infections, Toe syndactyly, Hypospadias, Polyhydramnios, Bila...	OMIM:619488
Smith-Lemli-Opitz Syndrome	Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Renal cyst, Micropenis, Pe...	OMIM:270400
Lead Poisoning	Miscarriage, Skin rash, Chronic kidney disease, Renal tubular dysfunction, Tubulointerstitial nep...	ORPHA:330015
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Hypospadias, Short 5th finger, Microphallus, Polydactyly, Ectrodactyly, Clinodactyly ...	ORPHA:397590
Oculofaciocardiodental Syndrome	Cubitus valgus, Short thumb, 2-3 toe syndactyly, Broad palm, Genu valgum, Hammertoe, Flexion cont...	ORPHA:2712
Trisomy 8P	Fetal pyelectasis, Heart murmur, Nephrocalcinosis, Micropenis, Hydronephrosis	ORPHA:264450
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h...	ORPHA:93258
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic...	OMIM:258040
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Methylcobalamin Deficiency Type Cble	Syndactyly, Glomerulopathy, Microcephaly, Hemolytic-uremic syndrome, Hypertension, Abnormal cereb...	ORPHA:2169
Cerebrooculofacioskeletal Syndrome 4	Rocker bottom foot, Camptodactyly of finger, Bilateral microphthalmos, Flared metaphysis, Hip dis...	OMIM:610758
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Primary Fanconi Renotubular Syndrome	Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu...	ORPHA:3337
Congenital Toxoplasmosis	Microphthalmia, Ascites	ORPHA:858
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
19Q13.11 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Congenital hip dislocation, Hypospadias, Cataract, Microcephal...	ORPHA:217346
Kinsship Syndrome	Single transverse palmar crease, Coxa valga, Hip dislocation, Renal hypoplasia, Horseshoe kidney,...	OMIM:619297
Adams-Oliver Syndrome 2	Single transverse palmar crease, Absent distal phalanges, Short middle phalanx of finger, Microph...	OMIM:614219
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Teebi Hypertelorism Syndrome 2	Clinodactyly of the 5th finger, Syndactyly, Hypospadias	OMIM:619736
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Phelan-Mcdermid Syndrome	Vesicoureteral reflux, Patent ductus arteriosus, Abnormality of the kidney, Polycystic kidney dys...	OMIM:606232
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Occipital Horn Syndrome	Hydronephrosis, Bladder diverticulum, Orthostatic hypotension, Ureteral obstruction	OMIM:304150
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria	OMIM:615399
3P25.3 Microdeletion Syndrome	Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Congenital pseudoarth...	ORPHA:435638
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:270150
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Glomerular crescent formation,...	OMIM:233450
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Unilateral renal agenesis, Congestive heart failure, Bronchiectasis, Pyelon...	ORPHA:90348
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Cholangitis, Pancreatic cysts, Stage 5 chronic kidney disease, Renal cyst, ...	OMIM:266920
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Broad hallux, Single transverse palmar crease, Methylmalo...	OMIM:614105
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Micropenis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:615287
Trisomy 18	Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:3380
Isolated Osteopoikilosis	Syndactyly, Abnormal pelvis bone morphology, Abnormality of the kidney, Abnormal pelvis bone ossi...	ORPHA:166119
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Abnormal er...	ORPHA:264580
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me...	OMIM:604292
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Short tibia, Humeroradial synostosis, Forearm undergrowt...	OMIM:251230
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Sclerocornea, Polyh...	ORPHA:3472
Fryns Syndrome	Ureteral duplication, Renal agenesis, Hypospadias, Renal cyst, Stillbirth, Hydronephrosis	OMIM:229850
Intermediate Uveitis	Anterior uveitis, Psoriasiform dermatitis, Vasculitis, Tubulointerstitial nephritis, Optic neuritis	ORPHA:279914
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Renal cyst	OMIM:261515
Kawasaki Disease	Pericarditis, Proteinuria, Skin rash, Congestive heart failure, Myocarditis, Vasculitis, Jaundice...	ORPHA:2331
Simpson-Golabi-Behmel Syndrome	Prolonged QT interval, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, H...	ORPHA:373
Rauch-Steindl Syndrome	Clinodactyly of the 5th finger, Hyperechogenic kidneys, Bilateral renal hypoplasia	OMIM:619695
Vater/Vacterl Association	Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent ductus arteriosus, Patent ur...	OMIM:192350
Robinow Syndrome, Autosomal Recessive 1	Nephrolithiasis, Nephrocalcinosis, Right ventricular outlet tract obstruction, Micropenis, Hydron...	OMIM:268310
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Anuria, Myocardial infarction, Peritonitis, Hemoglobinuria, Hypertension, Increased circulating l...	ORPHA:90038
Acrocephalopolydactylous Dysplasia	Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Camptodactyly of finger	ORPHA:48431
Joubert Syndrome 17	Abnormal renal morphology, Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Cri-Du-Chat Syndrome	Syndactyly, Short metacarpal, Cataract, Hypospadias, Single transverse palmar crease, Abnormality...	OMIM:123450
Lacrimoauriculodentodigital Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm...	ORPHA:2363
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria	OMIM:612300
Myopathy With Lactic Acidosis, Hereditary	Myoglobinuria, Palpitations	OMIM:255125
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Hypoplasia of penis, Cataract, Corneal opacity, Camptodactyly of finger, Scler...	ORPHA:284160
Cutis Marmorata Telangiectatica Congenita	Patent ductus arteriosus, Displacement of the urethral meatus, Multicystic kidney dysplasia, Tela...	ORPHA:1556
Chime Syndrome	Hydronephrosis, Abnormality of the kidney	ORPHA:3474
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia	OMIM:617107
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal diaphysis morphology, Clinodactyly of the ...	ORPHA:1515
Fraser Syndrome 3	Hypoplasia of the bladder, Hypoplasia of penis, Nonimmune hydrops fetalis, Short toe, Cutaneous s...	OMIM:617667
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle	OMIM:173800
Jacobsen Syndrome	Death in infancy, Multicystic kidney dysplasia, Eczema, Aortic valve stenosis, Hydronephrosis	ORPHA:2308
Acrocardiofacial Syndrome	Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypospadias, Camptodactyly...	ORPHA:2008
Holt-Oram Syndrome	Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Split hand, ...	ORPHA:392
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Sandal gap	OMIM:300887
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Mesomelia-Synostoses Syndrome	Hydronephrosis	OMIM:600383
Adams-Oliver Syndrome	Finger syndactyly, Brachydactyly, Absent toe, Split hand, Absent hand, Abnormality of the upper l...	ORPHA:974
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Patent ductus arteriosus, Hypospadias, Hydronephrosis, Unilateral renal agenesis	ORPHA:487796
Apert Syndrome	Chronic otitis media, Acne, Hydronephrosis	OMIM:101200
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria	OMIM:251900
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Polycystic ...	ORPHA:79240
Autosomal Recessive Robinow Syndrome	Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Chronic otitis media, Hydron...	ORPHA:1507
Martsolf Syndrome 1	Short metacarpal, Metatarsus adductus, Slender ulna, Short toe, Osteopathia striata, Broad finger...	OMIM:212720
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Anemic pallor, Renal agenesis, Ectopic kidney, Absent thumb, Short ...	OMIM:227646
Osteogenesis Imperfecta, Type Vii	Death in infancy, Hydronephrosis	OMIM:610682
Pearson Syndrome	Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Cardiac conduction abnormality, ...	ORPHA:699
Intellectual Developmental Disorder, Autosomal Dominant 42	Hydronephrosis, Ureteropelvic junction obstruction, Neurogenic bladder	OMIM:616973
Alg9-Cdg	Hypoplasia of the bladder, Tricuspid regurgitation, Ureteral hypoplasia, Hepatic cysts, Abnormal ...	ORPHA:79328
Lissencephaly 8	Microphthalmia, Talipes equinovarus	OMIM:617255
Kapur-Toriello Syndrome	Overlapping fingers, Single transverse palmar crease, Camptodactyly of finger, Short thumb, Abnor...	OMIM:244300
Joubert Syndrome 21	Hyperechogenic kidneys, Chronic sinusitis, Renal cyst	OMIM:615636
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cy...	ORPHA:538
8Q24.3 Microdeletion Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micromelia, Bilateral renal hypoplas...	ORPHA:508488
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Cardiomyopathy, Myoglobinuria	ORPHA:206549
Grange Syndrome	Syndactyly, Renovascular hypertension, Finger clinodactyly, Renal artery stenosis, Brachydactyly	OMIM:602531
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Vesicoureteral reflux, Renal hypoplasia	OMIM:617660
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Tap...	OMIM:609638
2Q31.1 Microdeletion Syndrome	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,...	ORPHA:251014
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Anemic pallor, Renal agenesis, Ectopic kidney, Absent thumb, Short ...	OMIM:227645
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena...	ORPHA:2044
Grange Syndrome	Syndactyly, Short palm	ORPHA:79094
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Micropenis, Proteinuria, Pancreatitis	OMIM:619471
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Micropenis	OMIM:308350
Rubinstein-Taybi Syndrome 2	Syndactyly, Broad hallux, Short first metatarsal, Short 5th toe, Prominent fingertip pads, Broad ...	OMIM:613684
Pure Mitochondrial Myopathy	Recurrent myoglobinuria	ORPHA:254854
Frontometaphyseal Dysplasia	Hydronephrosis, Urethral stenosis, Ureteral obstruction	ORPHA:1826
Exstrophy-Epispadias Complex	Renal dysplasia, Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the k...	ORPHA:322
Anemia, Congenital Dyserythropoietic, Type Ib	Syndactyly, Pallor	OMIM:615631
Dubowitz Syndrome	Eczema, Hypospadias, Hydronephrosis	ORPHA:235
Cerebrocostomandibular Syndrome	Death in infancy, Multicystic kidney dysplasia	ORPHA:1393
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Duplicated collecting system, Elevated circulating aspartate aminotransferase concentration, Elev...	OMIM:280000
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Cataract, Microcephaly, Preaxial polydactyly	ORPHA:64754
Knobloch Syndrome 1	Duplicated collecting system, Patent ductus arteriosus, Bifid ureter, Hydronephrosis, Renal dupli...	OMIM:267750
Hydrolethalus	Anophthalmia, Polyhydramnios, Micromelia, Postaxial hand polydactyly, Microphthalmia	ORPHA:2189
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Aortic regurgitation, Tricuspid regurgitation, Recurrent skin infections, Nephrotic syndrome, Mit...	OMIM:601776
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Bladder diverticulum,...	OMIM:129900
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hydroureter, Hypospadias, Patent ductus arteriosus, Dilatation of the renal pelvis, Right-to-left...	OMIM:265380
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Triphalangeal thumb, Short distal pha...	ORPHA:2994
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Finger syndactyly, Toe clinodactyly, Sandal gap, Hypospadias, Microcephaly,...	ORPHA:254346
Ectodermal Dysplasia-Syndactyly Syndrome 2	Syndactyly, Palmoplantar keratoderma	OMIM:613576
Myoclonic-Astatic Epilepsy	Microphthalmia, Premature skin wrinkling, Syndactyly	ORPHA:1942
Ulbright-Hodes Syndrome	Abnormal penis morphology, Short humerus, Short metacarpal, Humeroradial synostosis, Hypoplasia o...	ORPHA:3404
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Broad hallux, Postaxial hand polydactyly, 2-3 finger syndactyly, 2-3 toe syndactyly, Postaxial po...	OMIM:217085
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Conjunctivitis, Cholecystitis, Morbillif...	ORPHA:99827
Marfan Syndrome	Aortic regurgitation, Tricuspid regurgitation, Arachnodactyly, Protrusio acetabuli, Cataract, Equ...	OMIM:154700
Imerslund-Gräsbeck Syndrome	Tachycardia, Proteinuria, Angular cheilitis	ORPHA:35858
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Cataract, Sclerocornea, Hypoplasia of the corpus callosum, Camptoda...	OMIM:614230
Pagod Syndrome	Death in infancy, Multicystic kidney dysplasia, Sudden cardiac death, Renal hypoplasia/aplasia, A...	ORPHA:991
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Anophthalmia, Toe syndactyly, Single transverse palmar crea...	OMIM:607932
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly	OMIM:601163
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Polyhydramnios, Preaxial polydactyly, Femoral bowing, Short lo...	OMIM:615503
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Monosomy 18P	Lymphedema, Microphthalmia, Brachydactyly	ORPHA:1598
Robinow Syndrome	Multicystic kidney dysplasia, Pulmonic stenosis, Webbed penis, Micropenis, Hydronephrosis	ORPHA:97360
Orofaciodigital Syndrome I	Proteinuria, Pancreatic cysts, Hypertension, Ovarian cyst, Polycystic kidney dysplasia, Hepatic c...	OMIM:311200
Tetrasomy 9P	Renal dysplasia, Recurrent urinary tract infections, Pericarditis, Myositis, Raynaud phenomenon, ...	ORPHA:3310
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Redundant neck skin, Abnormality of the palmar creases	OMIM:618652
Diamond-Blackfan Anemia 1	Absent thumb, Hypoplastic ilia, Short thumb, Partial duplication of thumb phalanx, Hypoplasia of ...	OMIM:105650
Oculocerebrorenal Syndrome Of Lowe	Glomerulopathy, Renal insufficiency, Death in infancy, Proteinuria, Cheilitis, Proximal renal tub...	ORPHA:534
Huntington Disease-Like 1	Abnormal posturing	ORPHA:157941
Schinzel-Giedion Midface Retraction Syndrome	Ureteral stenosis, Hypospadias, Hydroureter, Micropenis, Hydronephrosis	OMIM:269150
Temtamy Syndrome	Hip dislocation, Short 2nd toe, Talipes equinovarus, Microphthalmia, Brachydactyly	OMIM:218340
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Finger syndactyly, Hypospadias, Single transverse palmar crease, Tapered finger, Microcephaly, Ca...	ORPHA:435938
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional...	ORPHA:573278
Aarskog-Scott Syndrome	Finger syndactyly, Single transverse palmar crease, Camptodactyly of finger, Congestive heart fai...	ORPHA:915
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent urinary tract infections, Hypospadias, Pneumonia, Cardiac conduction abnormality, Paten...	ORPHA:353281
Stevenson-Carey Syndrome	Recurrent urinary tract infections, Hip dysplasia, Camptodactyly, Microphthalmia, Joint contractu...	OMIM:611961
Biliary, Renal, Neurologic, And Skeletal Syndrome	Elevated gamma-glutamyltransferase level, Neonatal death, Tricuspid regurgitation, Elevated circu...	OMIM:619534
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Tapered finger, Small hand, Renal hypoplasia, Hip dysplasia, Microphthalmia	OMIM:620005
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Anophthalmia, Hypospadias, Renal hypoplasia/aplasia, Bilateral m...	OMIM:219000
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Dry skin, Cutis laxa	OMIM:612379
Sandestig-Stefanova Syndrome	Rocker bottom foot, Camptodactyly, Microphthalmia, Clinodactyly, Bilateral single transverse palm...	OMIM:618804
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent urinary tract infections, Hypospadias, Eczema, Intraventricular hemorrhage, Fetal pyele...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent urinary tract infections, Hypospadias, Eczema, Intraventricular hemorrhage, Fetal pyele...	ORPHA:363958
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Clinodactyly, Arachnodactyly	OMIM:619092
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short metacarpal, Brachydactyly, Redundant neck skin, Recurrent urinary tract infections, Polyhyd...	OMIM:617157
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	Duplication of renal pelvis, Ureteral duplication	ORPHA:457212
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hemoglobinuria, Jaundice, Hepatitis	OMIM:194380
Primary Sjögren Syndrome	Renal insufficiency, Chronic active hepatitis, Myositis, Glomerulonephritis, Abnormality of the k...	ORPHA:289390
Chromosome 13Q33-Q34 Deletion Syndrome	Overlapping toe, Single transverse palmar crease, Hypospadias, Tapered finger, Microcephaly, Shor...	OMIM:619148
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Hemoglobinuria, Jaundice, Prolonged neonatal jaundice	OMIM:300908
22Q11.2 Deletion Syndrome	Hypospadias, Arachnodactyly, Polyhydramnios, Renal hypoplasia, Hand polydactyly, Multiple renal c...	ORPHA:567
Chromosome 17Q12 Duplication Syndrome	Microphthalmia, Broad thumb, Brachydactyly	OMIM:614526
Filippi Syndrome	Finger clinodactyly, Single transverse palmar crease, Cutaneous syndactyly, 2-4 toe syndactyly	OMIM:272440
Bohring-Opitz Syndrome	Syndactyly, Overlapping toe, Ulnar deviation of the wrist, Polyhydramnios, Tapered finger, Mesome...	OMIM:605039
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Abnormal metaphysis morphology	ORPHA:290
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Vesicoureteral reflux, Hydronephrosis, Aortic aneurysm	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Vesicoureteral reflux, Hydronephrosis, Aortic aneurysm	ORPHA:352665
Oculodentodigital Dysplasia	Finger syndactyly, Neurogenic bladder, Toe syndactyly, Cataract, Camptodactyly of finger, Short h...	ORPHA:2710
Curry-Jones Syndrome	Duplication of thumb phalanx, Preaxial hand polydactyly, 2-3 finger syndactyly, Preaxial foot pol...	OMIM:601707
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Microcep...	ORPHA:649
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Micromelia, Preaxial hand polydactyly, Abnormal pelv...	ORPHA:93271
Bardet-Biedl Syndrome 1	Syndactyly, Cataract, Abnormality of the kidney, Postaxial polydactyly, Postaxial hand polydactyl...	OMIM:209900
Glycogen Storage Disease Xii	Jaundice, Elevated circulating alanine aminotransferase concentration, Hemoglobinuria, Cholecysti...	OMIM:611881
Mohr Syndrome	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Flared metaphysis, Postaxial f...	OMIM:252100
Floating-Harbor Syndrome	Hypospadias, Glandular hypospadias, Atopic dermatitis, Nephrocalcinosis, Congenital posterior ure...	OMIM:136140
Hajdu-Cheney Syndrome	Patent ductus arteriosus, Hypospadias, Polycystic kidney dysplasia, Renal cyst	OMIM:102500
Superficial Epidermolytic Ichthyosis	Erythema, Palmoplantar keratoderma, Edema	ORPHA:455
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Schinzel-Giedion Syndrome	Hypospadias, Nephroblastoma, Recurrent pneumonia, Abnormality of the ureter, Nephrolithiasis, Ren...	ORPHA:798
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Sandal gap, Broad hallux, Microphthalmia, Clinodactyly, 3-4 toe syndactyly, Brachydactyly	OMIM:618727
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Hypospadias, Proximal placement of thumb, Microcephaly, Cardiomyopathy, Short palm, C...	OMIM:217980
Ring Chromosome 21 Syndrome	Syndactyly, Clinodactyly, Small hand, Narrow palm	ORPHA:1445
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Renal insufficiency, Cholangitis, Patent ductus arteriosus, Recurr...	OMIM:613610
Crane-Heise Syndrome	Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, ...	ORPHA:1512
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Vesicoureteral reflux, Patent ductus arteriosus, Hypospadias, Renal cyst	OMIM:616975
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Ulnar bowing, Shortening of all distal phalanges of the fingers, Epiphyse...	OMIM:619135
Pfeiffer Syndrome	Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi...	ORPHA:710
Fraser Syndrome	Finger syndactyly, Hypoplasia of penis, Anophthalmia, Multicystic kidney dysplasia, Hypospadias, ...	ORPHA:2052
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Hypospadias, Upper limb asymmetry, Edema	ORPHA:2505
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria	OMIM:266120
Neuroocular Syndrome	Hypoplasia of the fovea, Hyperextensibility of the finger joints, Scapular winging, Cataract, Rem...	OMIM:619539
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Micropenis, Polycystic kidney dysplasia	OMIM:616546
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Patent ductus arteriosus, ...	OMIM:619522
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Corneal opacity, Absent thumb, Aplasia/Hypoplasia of the dista...	ORPHA:1234
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Patent ...	ORPHA:818
Charge Syndrome	Hypoplasia of the ulna, Anophthalmia, Renal agenesis, Down-sloping shoulders, Abnormal palmar der...	OMIM:214800
1P36 Deletion Syndrome	Aortic arch aneurysm, Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Patent ductus ...	ORPHA:1606
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Aplasia of the 1st metaca...	ORPHA:1352
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Renal hypoplasia/aplasia, Abnormal renal morphology, Mitral regurgitation, Pulmonic st...	ORPHA:363700
Eem Syndrome	Finger syndactyly, Ectrodactyly	ORPHA:1897
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermatitis, Micropeni...	ORPHA:83617
Pfeiffer Syndrome	Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, H...	OMIM:101600
Oculodentodigital Dysplasia, Autosomal Recessive	Broad long bones, Fifth finger distal phalanx clinodactyly, 4-5 finger syndactyly, Small hand, 3-...	OMIM:257850
Spondylocarpotarsal Synostosis Syndrome	Renal cyst	OMIM:272460
Cockayne Syndrome	Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen...	ORPHA:191
Cerebrocostomandibular Syndrome	Patent ductus arteriosus, Horseshoe kidney, Renal cyst, Ectopic kidney	OMIM:117650
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing	OMIM:614857
Syndromic Diarrhea	Aortic regurgitation, Gastritis, Patent ductus arteriosus, Renal hypoplasia, Colitis, Polycystic ...	ORPHA:84064
Acrofacial Dysostosis, Catania Type	Finger syndactyly, Brachydactyly, Hypospadias, Microcephaly, Small hand, Short palm, Clinodactyly...	ORPHA:1786
Nance-Horan Syndrome	Microphthalmia, Short metacarpal	ORPHA:627
Hydrolethalus Syndrome 1	Stillbirth, Hypospadias, Hydronephrosis	OMIM:236680
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Bilateral single transverse palmar creases, Synostosis of carpal bones	ORPHA:3191
Liver Disease, Severe Congenital	Elevated hepatic transaminase, Chronic gastritis, Recurrent urinary tract infections, Hypospadias...	OMIM:619991
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Overlapping toe, Hypospadias, Long fingers, Cutaneous syndactyly, Overlapping fingers	OMIM:618316
Renpenning Syndrome 1	Hypospadias, Phimosis, Renal hypoplasia, Synostosis of the proximal phalanx of the thumb with the...	OMIM:309500
Classic Pantothenate Kinase-Associated Neurodegeneration	Abnormal posturing	ORPHA:216866
Gaucher Disease Type 3	Hematuria, Pulmonary arterial hypertension, Proteinuria	ORPHA:77261
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Short metacarpal, Single transverse palmar crease, Monkey wrench femoral ne...	OMIM:615777
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Postaxial polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Broad distal phalanx of fi...	ORPHA:404440
Fanconi Anemia, Complementation Group S	Microphthalmia, Clinodactyly, Proximal placement of thumb	OMIM:617883
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Okamoto Syndrome	Urinary incontinence, Unilateral renal hypoplasia, Aortic valve stenosis, Ureteropelvic junction ...	ORPHA:2729
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Micropenis, Tricuspid regurgitation, Polycystic kidney dysplasia	OMIM:263520
Digeorge Syndrome	Renal insufficiency, Acne, Unilateral renal agenesis, Seborrheic dermatitis, Patent ductus arteri...	OMIM:188400
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Cutis laxa, Br...	OMIM:614800
Congenital Fibrinogen Deficiency	Microphthalmia, Micropenis, Clubbing of fingers	ORPHA:335
Peters-Plus Syndrome	Ureteral duplication, Syndactyly, Short metacarpal, Hypospadias, Single transverse palmar crease,...	OMIM:261540
Infection-Related Hemolytic Uremic Syndrome	Anuria, Acute colitis, Pneumonia, Myocarditis, Pancreatitis, Oliguria, Hypertension, Septic arthr...	ORPHA:544482
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Renal hypoplasia/aplasia, Split ...	ORPHA:958
20P13 Microdeletion Syndrome	Finger syndactyly, Microcephaly, Microcornea, Polydactyly, Clinodactyly, Brachydactyly	ORPHA:313781
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Episcleritis, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Ecz...	ORPHA:2273
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Cholangitis, Lacticaciduria, Tubulointerstitial nephritis, Aminoac...	OMIM:124000
Joubert Syndrome 33	Syndactyly	OMIM:617767
Arboleda-Tham Syndrome	Recurrent urinary tract infections, Patent ductus arteriosus, Recurrent otitis media, Conjunctivi...	OMIM:616268
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Acrorenal-Mandibular Syndrome	Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia	OMIM:200980
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Keratoconjunctivitis sicca, Hypospadias, Renal cyst	ORPHA:495875
Warburg Micro Syndrome 2	Overlapping toe, Microphthalmia, Micropenis, Clinodactyly of the 4th toe, Clinodactyly of the 5th...	OMIM:614225
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2636
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Abnormality of the hand, Bilateral microphthalmos, Camptodactyly, Clinodactyly	ORPHA:369891
Bladder Exstrophy And Epispadias Complex	Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Abnormal pelvic girdle bone...	OMIM:600057
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Microcephaly, Lens coloboma, Agenesis of corpus c...	ORPHA:42775
Coffin-Siris Syndrome 1	Hydroureter, Hypospadias, Single transverse palmar crease, Sandal gap, Ectopic kidney, Aplasia/Hy...	OMIM:135900
Gabriele-De Vries Syndrome	Ureteropelvic junction obstruction, Hydronephrosis	ORPHA:506358
Long Qt Syndrome 8	Syndactyly, Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolo...	OMIM:618447
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Acrootoocular Syndrome	Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge...	ORPHA:2980
Charge Syndrome	Aortic arch aneurysm, Patent ductus arteriosus, Horseshoe kidney, Vesicoureteral reflux, Micropen...	ORPHA:138
Williams Syndrome	Hypoplasia of penis, Redundant skin, Periorbital edema, Abnormal tubulointerstitial morphology, N...	ORPHA:904
Multiple Pterygium Syndrome, Escobar Variant	Syndactyly, Arachnodactyly, Rocker bottom foot, Down-sloping shoulders, Hypospadias, Pterygium, P...	OMIM:265000
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Microphthalmia	OMIM:167730
Rere-Related Neurodevelopmental Syndrome	Vesicoureteral reflux, Microphthalmia, Hip dysplasia, Hypospadias	ORPHA:494344
Cohen Syndrome	Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Cubitus valgus, Narrow palm, Slend...	ORPHA:193
Bartsocas-Papas Syndrome 1	Ectopic kidney, Hypoplastic iliac wing, Pterygium, Micropenis, Short phalanx of finger, Syndactyl...	OMIM:263650
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Syndactyly, Aminoaciduria, Ketonuria, Polymicrogyria	OMIM:614520
Vacterl With Hydrocephalus	Anophthalmia, Renal agenesis, Polyhydramnios, Renal hypoplasia/aplasia, Hypoplasia of the radius,...	ORPHA:3412
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radius, Brachy...	OMIM:617895
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia, Lymphedema	OMIM:152950
Mycophenolate Mofetil Embryopathy	Ectopic kidney, Hydrops fetalis, Foot polydactyly, Short palm, Microphthalmia	ORPHA:268249
Heart And Brain Malformation Syndrome	Hand clenching, Microphthalmia, Camptodactyly of finger, Polyhydramnios	OMIM:616920
Baraitser-Winter Syndrome 1	Microphthalmia, Micropenis, Duplication of phalanx of hallux	OMIM:243310
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Small hand, Short foot, Short palm, Microphthalmia, Micropenis	OMIM:241410
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Cockayne Syndrome B	Renal insufficiency, Proteinuria, Hypertension, Arrhythmia, Death in childhood, Micropenis	OMIM:133540
Robinow Syndrome, Autosomal Dominant 1	Micropenis, Hydronephrosis, Right ventricular outlet tract obstruction, Renal duplication	OMIM:180700
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Short foot, Broad proximal phalanges of the hand, Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Ring Chromosome 12 Syndrome	Syndactyly, Microcephaly, Abnormal 5th finger morphology, Glandular hypospadias, Symphalangism of...	ORPHA:1439
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 2nd finger, Sandal gap, Broad hallux, 2-3 toe syndactyly, Cutaneous syndactyly, Short 5th f...	OMIM:600987
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal penis morphology, Finger syndactyly, Broad hallux phalanx, Hypospadias, Abnormal cortica...	ORPHA:2211
Trisomy 10P	Multiple renal cysts, Abnormality of the kidney	ORPHA:171929
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney	ORPHA:500095
Fanconi Anemia	Abnormal femur morphology, Triphalangeal thumb, Clinodactyly of the 5th finger, Finger syndactyly...	ORPHA:84
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Aniridia, Microphthalmia, Camptodactyly of toe	ORPHA:251038
Distal Deletion 15Q	Multicystic kidney dysplasia, Hypospadias, Mitral stenosis, Patent ductus arteriosus, Abnormal lo...	ORPHA:1596
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Patent ductus arteriosus, Nephrolithiasis, Pulmonic stenosis, Aspiration pneumonia, Vesicouretera...	ORPHA:438213
Microphthalmia, Syndromic 1	Syndactyly, Anophthalmia, Hypospadias, Hydroureter, Abnormal palmar dermatoglyphics, Down-sloping...	OMIM:309800
Kabuki Syndrome 1	Crossed fused renal ectopia, Micropenis, Recurrent otitis media, Ureteropelvic junction obstructi...	OMIM:147920
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Abnormal preputium morpho...	ORPHA:2907
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Polyhydram...	ORPHA:783
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Multicystic kidney dysplasia, Nephroblastoma	ORPHA:1052
Familial Exudative Vitreoretinopathy	Microphthalmia, Macular edema, Lymphedema	ORPHA:891
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Corneal opacity, Aplasia/Hypoplasia of the distal ...	ORPHA:1647
Microphthalmia, Syndromic 5	Microphthalmia, Micropenis, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Broad palm,...	OMIM:305400
Prader-Willi Syndrome	Syndactyly, Polyhydramnios, Acromicria, Small hand, Narrow palm, Oligohydramnios, Genu valgum, Sh...	OMIM:176270
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Meckel Syndrome, Type 1	Agenesis of corpus callosum, Iris coloboma, Syndactyly, Postaxial foot polydactyly, Cystic renal ...	OMIM:249000
Sporadic Infantile Bilateral Striatal Necrosis	Abnormal posturing, Titubation	ORPHA:225147
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ...	OMIM:309000
X Small Rings	Toe syndactyly, Tapered finger, Fetal pyelectasis, 2-3 toe syndactyly, Upper limb undergrowth, Cu...	ORPHA:96201
Sandifer Syndrome	Abnormal posturing	ORPHA:71272
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Hypoplasia of penis, Anophthalmia, Hypospadias	ORPHA:77298
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Patent...	ORPHA:709
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s...	ORPHA:79500
Pili Torti-Onychodysplasia Syndrome	Palmoplantar keratoderma, Dry skin, Cutaneous syndactyly	ORPHA:2890
Rhombencephalosynapsis	Finger syndactyly, Septo-optic dysplasia, Abnormal renal morphology, Polydactyly, Complete duplic...	ORPHA:59315
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Hypospadias, Camptodactyly of finger, Microcephaly, Abnormality of the ureter	ORPHA:2311
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Renal hypoplasia/aplasia, Abnormality of...	ORPHA:3186
Roberts-Sc Phocomelia Syndrome	Polyhydramnios, Tetraphocomelia, Coloboma, Phocomelia, Wrist flexion contracture, Syndactyly, Hyp...	OMIM:268300
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Clinodactyly of the 5th finge...	OMIM:300963
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Renal agenesis, Renal hypoplasia/aplasia, Central Y-shaped met...	ORPHA:2754
Neurocardiofaciodigital Syndrome	Syndactyly, Cataract, Sclerocornea, Microcephaly, Polydactyly, Hypoplasia of the corpus callosum,...	OMIM:619869
3Q29 Microdeletion Syndrome	Hypospadias, Tapered finger, Horseshoe kidney, Clinodactyly of the 5th finger, Microphthalmia	ORPHA:65286
Fg Syndrome Type 1	Finger syndactyly, Limited elbow extension and supination, Broad toe, Hypospadias, Single transve...	ORPHA:93932
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Hand polydactyly, Cerebral ischemi...	ORPHA:60040
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Cardiac conduction ab...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Cardiac conduction ab...	ORPHA:353277
Cockayne Syndrome A	Renal insufficiency, Proteinuria, Hypertension, Arrhythmia, Micropenis	OMIM:216400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Death in infancy, Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal age...	OMIM:308205
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hallux varus, Small hand, ...	ORPHA:93259
Tukel Syndrome	Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly	OMIM:609428
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia, Vesicoureteral reflux	OMIM:120200
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Williams-Beuren Syndrome	Hallux valgus, Renal insufficiency, Recurrent urinary tract infections, Down-sloping shoulders, U...	OMIM:194050
Johanson-Blizzard Syndrome	Hypospadias, Elevated circulating aspartate aminotransferase concentration, Portal hypertension, ...	OMIM:243800
Nance-Horan Syndrome	Microphthalmia, Short phalanx of finger, Broad finger	OMIM:302350
Campomelic Dysplasia	Hypospadias, Hydronephrosis	OMIM:114290
Genitopatellar Syndrome	Micropenis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:606170
C Syndrome	Death in infancy, Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia	ORPHA:1308
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Single transverse palmar crease, 2-3 toe syndactyly, Joint contracture of the 5th finger, Promine...	OMIM:620098
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Micropenis, Genu valgum, Optic nerve hypoplasia, Renal hypoplasia	OMIM:619321
Epidermolysis Bullosa, Junctional 1B, Severe	Syndactyly	OMIM:226700
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Gaucher Disease	Death in infancy, Osteomyelitis, Proteinuria, Osteoarthritis, Hepatitis, Hematuria, Pulmonary art...	ORPHA:355
Dystonia 1, Torsion, Autosomal Dominant	Abnormal posturing	OMIM:128100
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Abnormality of the kidney, Short ...	OMIM:263750
Blepharonasofacial Malformation Syndrome	Finger syndactyly, Redundant skin	ORPHA:1252
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Recurrent pneumonia, Eczema, Hydronephrosis	OMIM:620330
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Sarcoidosis	Renal insufficiency, Abnormal cardiac ventricular function, Maculopapular exanthema, Portal hyper...	ORPHA:797
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Palmoplantar hyperkeratosis, Tibial bowing, Short foot, Slender long bone, Corneal...	OMIM:601812
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia, Oligohydramnios	ORPHA:228390
Steinfeld Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Phocomelia, Mi...	OMIM:184705
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Hypospadias, Tapered finger, Clinodactyly, Renal hypoplasia, Genu valgum, Talipes equinovarus, Ra...	OMIM:309580
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Syndactyly, Congenital bilateral hip dislocation	ORPHA:404451
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Syndactyly, Narrow joint spaces of the elbow, Hypospadias, Horseshoe kidney, Clinodactyly of the ...	ORPHA:96182
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Warburg Micro Syndrome 3	Clinodactyly of the 5th finger, Microphthalmia, Micropenis	OMIM:614222
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of penis, Hypospadias, Polyhydramnios, Renal hypoplasia/aplasia, Postaxial hand polyda...	ORPHA:2166
Focal Dermal Hypoplasia	Ureteral duplication, Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metata...	OMIM:305600
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Sotos Syndrome	Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis...	ORPHA:821
Ohdo Syndrome, X-Linked	Ulnar deviation of the hand, Overlapping toe, Short thumb, Long thumb, Micropenis, Hip dysplasia,...	OMIM:300895
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Syndactyly, Hypospadias, Aplasia/Hypoplasia of the middl...	OMIM:151050
Osteopathia Striata With Cranial Sclerosis	Patent ductus arteriosus, Multicystic kidney dysplasia	OMIM:300373
Chromosome 1Q41-Q42 Deletion Syndrome	3-4 finger cutaneous syndactyly, Microphthalmia, Sandal gap, Talipes equinovarus	OMIM:612530
Hajdu-Cheney Syndrome	Hypospadias, Patent ductus arteriosus, Multiple renal cysts, Aortic valve stenosis, Periodontitis...	ORPHA:955
Otopalatodigital Syndrome, Type Ii	Dilatation of the sinus of Valsalva, Stillbirth, Hypospadias, Hydronephrosis	OMIM:304120
Beckwith-Wiedemann Syndrome	Ureteral duplication, Nephrolithiasis, Hypercalciuria, Hypertrophic cardiomyopathy, Congenital me...	ORPHA:116
Meckel Syndrome	Pancreatic cysts, Ureteral duplication, Multicystic kidney dysplasia, Urethral atresia	ORPHA:564
Opitz-Kaveggia Syndrome	Syndactyly, Broad hallux, Single transverse palmar crease, Hypospadias, Partial agenesis of the c...	OMIM:305450
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulointerstiti...	ORPHA:227990
Aymé-Gripp Syndrome	Patent ductus arteriosus, Proteinuria, Pericarditis	ORPHA:1272
Mosaic Trisomy 16	Syndactyly, Hypospadias, Single transverse palmar crease, Short thumb, Horseshoe kidney, Short fe...	ORPHA:1708
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Renal agenesis, Rocker bottom foot, Micromelia, Polyhydramnios...	OMIM:256520
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Polyhydramnios, Edema	OMIM:616038
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cyst of the ductus choledochus, Patent ductus arteriosus, Hydronephrosis, Cardiomyopathy, Renal d...	ORPHA:480880
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Tapered finger, Long fingers, Unilateral renal hypoplasia, Excessive wrinkled skin, Prominent fin...	OMIM:619950
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Tricuspid regurgitation, Micropenis, Mesomelia, Vesicoureteral reflux, Clinodactyly, ...	OMIM:616894
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Micropht...	OMIM:153400
Femoral-Facial Syndrome	Renal agenesis, Abnormal renal collecting system morphology, Pulmonic stenosis, Polycystic kidney...	OMIM:134780
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Hypoplasia of penis, Camptodactyly of finger, Multiple pterygia, Microcephaly,...	ORPHA:2990
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of the ureter, Palmoplantar hyperkeratosis, Bilate...	ORPHA:3253
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Overlapping toe, Renal dysplasia	OMIM:618571
Dubowitz Syndrome	Syndactyly, Hypospadias, Single transverse palmar crease, Microcephaly, Hypoplasia of the iris, C...	OMIM:223370
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Lack of skin elasticity	ORPHA:178303
Cranioectodermal Dysplasia 1	Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubulointerstiti...	OMIM:218330
Simpson-Golabi-Behmel Syndrome, Type 1	Hypospadias, Patent ductus arteriosus, Renal cyst, Duplication of renal pelvis, Cardiomyopathy, A...	OMIM:312870
Acrocallosal Syndrome	Finger syndactyly, Toe syndactyly, Hypospadias, Duplication of thumb phalanx, Tapered finger, Bif...	OMIM:200990
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Single transverse palmar crease, 2-3 toe syndactyly, Coxa vara, Radioulnar synostosis...	OMIM:614701
Blepharocheilodontic Syndrome 2	Cutaneous syndactyly	OMIM:617681
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Iridocyclitis, Hepatitis, Chronic mucocutaneous candidiasis, Tubulointerstiti...	ORPHA:227982
Holoprosencephaly	Hypoplasia of penis, Abnormality of the urinary system, Proteinuria, Arrhythmia	ORPHA:2162
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Syndactyly, Remnants of the hyaloid vascular system, Optic ner...	OMIM:603671
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Syndactyly, Clinodactyly	OMIM:618087
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Clinodactyly of the 5th finger, Microphthalmia	OMIM:617306
Kbg Syndrome	Syndactyly, Single transverse palmar crease, Microcephaly, Epispadias, Cutaneous syndactyly, Radi...	OMIM:148050
Walker-Warburg Syndrome	Metatarsus valgus, Microphthalmia, Hypoplasia of penis, Anophthalmia	ORPHA:899
Oculodentodigital Dysplasia	Neurogenic bladder, Cubitus valgus, 4-5 finger syndactyly, Hip dislocation, Joint contracture of ...	OMIM:164200
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Short Stature With Microcephaly And Distinctive Facies	Syndactyly, Short digit, Death in infancy, Proximal placement of thumb, Microcephaly, Talipes equ...	OMIM:615789
Nasopalpebral Lipoma-Coloboma Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Bilateral microphthalmos	ORPHA:2399
White Forelock With Malformations	Clinodactyly of the 5th finger, Finger syndactyly	ORPHA:2475
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Arachnodactyly, Long palm, Camptodactyly of finger, Tapered finger, Metatarsus...	ORPHA:2215
Blepharocheilodontic Syndrome 1	Clinodactyly, Cutaneous syndactyly	OMIM:119580
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Hypoplasia of the radius	ORPHA:246
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly	ORPHA:1514
Warburg Micro Syndrome 4	Microphthalmia, Micropenis	OMIM:615663
Rubinstein-Taybi Syndrome 1	Patent ductus arteriosus, Hypospadias, Hydronephrosis	OMIM:180849
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia, Skin ulcer	ORPHA:1806
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Sclerocornea, Polyhydramnios, Short ...	OMIM:216340
Kbg Syndrome	Finger clinodactyly, Single transverse palmar crease, Cutaneous syndactyly	ORPHA:2332
Frontorhiny	Finger clinodactyly, Microphthalmia, Camptodactyly of finger, Brachydactyly	ORPHA:391474
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Abnormality of the elbow, Hip dislocation, Short middle phalanx of finger, Cli...	ORPHA:1005
Wiedemann-Rautenstrauch Syndrome	Recurrent urinary tract infections, Hypospadias, Recurrent skin infections, Wide penis, Synovitis...	ORPHA:3455
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Patent ductus arteriosus, Proteinuria, Cerebral hemorrhage	OMIM:616682
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Adult Syndrome	Finger syndactyly, Toe syndactyly, Skin ulcer, Split foot, Dry skin	ORPHA:978
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Edema, Lymphedema, Skin ulcer, Chylothorax, Scaling skin, Microphthalmia, Pleural e...	ORPHA:2526
Incontinentia Pigmenti	Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, Erythema, Absent hand, Skin...	ORPHA:464
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Corneal opacity, Abnormal morp...	ORPHA:570
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Kapur-Toriello Syndrome	Microphthalmia, Hypoplasia of penis	ORPHA:2328
Filippi Syndrome	Enlarged epiphyses, Finger syndactyly, Clinodactyly of the 5th finger, Clinodactyly of the 5th to...	ORPHA:3255
Pallister-Hall Syndrome	Ectopic kidney, Micropenis, Mesoaxial polydactyly, Radial bowing, Hypospadias, Polydactyly affect...	ORPHA:672
Blepharo-Cheilo-Odontic Syndrome	Finger syndactyly	ORPHA:1997
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Optic nerve hypoplasia	ORPHA:370959
Larsen Syndrome	Finger syndactyly, Accessory carpal bones, Abnormal epiphysis morphology, Broad distal phalanx of...	ORPHA:503
Timothy Syndrome	Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Cutaneous syndactyly, Bra...	OMIM:601005
Hamamy Syndrome	Long toe, Syndactyly, Prolonged QRS complex, Down-sloping shoulders, Tapered finger, Long fingers...	OMIM:611174
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Hennekam Syndrome	Finger syndactyly, Camptodactyly of finger, Lymphedema, Ectopic kidney, Pericardial effusion, Hyd...	ORPHA:2136
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Brachydactyly, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the...	ORPHA:364577
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Synostosis of carpal bones	ORPHA:1323
Myhre Syndrome	Overlapping toe, Pericardial effusion, Short toe, 2-3 toe syndactyly, Cone-shaped epiphysis, Shor...	OMIM:139210
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Finger syndactyly, Hypospadias, Absent septum pellucidum, Aplastic cla...	ORPHA:2658
Lacrimoauriculodentodigital Syndrome 1	Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Conjunctivitis, Triphalange...	OMIM:149730
Monosomy 22	Finger syndactyly, Single transverse palmar crease, Microcephaly, Clubbing, Joint swelling, Clino...	ORPHA:96123
Apert Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Absent septum pellucidum, Mic...	ORPHA:87
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Hypospadias, Absent septum pellucidum, Dysplastic corpus callosum, Chordee, Astigmati...	OMIM:618820
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Hypospadias, Unilateral microphthalmos, Adducted thumb	OMIM:618874
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Short tibia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopla...	OMIM:617925
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Camptodactyly of finger, Tapered finger, Microphthalmia, Broad thumb, Bilateral single transverse...	ORPHA:1236
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Abnormal pupil morphology, Calcaneovalgus deformity, Large basal ganglia, M...	ORPHA:261552
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Calcaneovalgus deformity, Large basal ganglia, Vesicoureteral reflux, Webbe...	ORPHA:261537
Rodrigues Blindness	Microphthalmia	OMIM:268320
Mend Syndrome	Overlapping fingers, Broad hallux, Overlapping toe, Long fingers, 2-3 toe syndactyly, Hand polyda...	ORPHA:401973
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Skin Creases, Congenital Symmetric Circumferential, 2	Hypospadias, Tapered finger, Long fingers, 2-3 toe syndactyly, Ureterocele, Short palm, Clinodact...	OMIM:616734
Orofaciodigital Syndrome Xiv	Broad hallux, Epispadias, Postaxial hand polydactyly, Preaxial polydactyly, Unilateral renal hypo...	OMIM:615948
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Adactyly, Split hand, Aplasia/Hypoplasia of fingers, Upper limb...	ORPHA:989
Rapp-Hodgkin Syndrome	Syndactyly, Hypospadias, 2-3 toe cutaneous syndactyly, Palmoplantar keratoderma, Dry skin	OMIM:129400
Mowat-Wilson Syndrome	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Paten...	ORPHA:2152
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos	OMIM:615085
Basal Cell Nevus Syndrome 1	Down-sloping shoulders, Palmar pits, Irregular ossification of hand bones, Polydactyly, Short dis...	OMIM:109400
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Down-sloping shoulders, Metatarsus adductus, Broad palm, Short foot, Pollakisuria, Ca...	OMIM:227330
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	2-5 finger syndactyly, Hypospadias, Optic nerve hypoplasia, Unilateral renal agenesis, Camptodact...	ORPHA:468631
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, Eczema, Patent ductus arteriosus, Atopic dermatitis, Asce...	OMIM:619472
Acrofrontofacionasal Dysostosis 1	Short metacarpal, Microphthalmia, Acetabular dysplasia, Broad thumb, Short distal phalanx of finger	OMIM:201180
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Clinodactyly of the 5th finger, Microphthalmi...	ORPHA:1587
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Arachnodactyly, Broad hallux, Short finger, Microphthalmia, Cubitus valgus, Homocystinuria	OMIM:601552
Aminopterin/Methotrexate Embryofetopathy	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Microcephaly, Anencephaly, Aplasi...	ORPHA:1908
Skin Creases, Congenital Symmetric Circumferential, 1	Long fingers, Microphthalmia	OMIM:156610
Proteus Syndrome	Hallux valgus, Finger syndactyly, Central heterochromia, Cataract, Macrodactyly, Sudden cardiac d...	ORPHA:744
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Kindler Epidermolysis Bullosa	Urethral stricture, Finger syndactyly, Corneal opacity, Camptodactyly of finger, Phimosis, Neopla...	ORPHA:2908
Choroidal Atrophy-Alopecia Syndrome	Finger syndactyly	ORPHA:1433
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Microphthalmia, Syndromic 2	Anophthalmia, Hypospadias, Broad hallux, Sandal gap, 2-3 toe cutaneous syndactyly, Phthisis bulbi...	OMIM:300166
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Small hand, Short 4th metacarpal	ORPHA:1787
Cornelia De Lange Syndrome	Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Vesicoureter...	ORPHA:199
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Ureteral stenosis, Renal hypoplasia	OMIM:270100
Constricting Bands, Congenital	Syndactyly, Hand polydactyly, Bladder exstrophy, Talipes equinovarus	OMIM:217100
Pmm2-Cdg	Elevated hepatic transaminase, Pericarditis, Proteinuria, Angina pectoris, Intracranial hemorrhag...	ORPHA:79318
Sclerosteosis 1	Syndactyly, 2-3 finger syndactyly, Deviation of finger, Abnormal pelvic girdle bone morphology, C...	OMIM:269500
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Prolonged QT interval, Optic nerve hypoplasia, 2-3 toe cutaneous syndactyly, 3-4 finger cutaneous...	OMIM:620029
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Dry skin	OMIM:601675
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Short tibia, Adactyly, Broad first metatarsal, Postaxial hand po...	ORPHA:2751
Fontaine Progeroid Syndrome	Syndactyly, Death in infancy, Tricuspid regurgitation, Microcephaly, Oligohydramnios, Aortic aneu...	OMIM:612289
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Triphalangeal t...	ORPHA:794
Jacobsen Syndrome	Hypospadias, Macular hypoplasia, Clinodactyly of the 5th finger, Microphthalmia, Brachydactyly	OMIM:147791
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Ectopic kidney, Short toe, Clinodactyly of the 5th finger, Arrhythmia, Brachyd...	ORPHA:1519
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the 5th finger, Sh...	OMIM:608670
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Momo Syndrome	Bilateral microphthalmos, Femoral bowing, Large hands, Short sternum, Congenital pseudoarthrosis ...	ORPHA:2563
Hallermann-Streiff Syndrome	Abnormality of the hand, Metaphyseal widening, Slender long bone, Microphthalmia, Dry skin	OMIM:234100
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Clinodactyly of the 5th finger, Syndactyly, Broad palm	OMIM:618505
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Short thumb, Small hand, Short foot, Talipes equinovarus, Short palm,...	OMIM:268400
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Abnormal metaphysis morphology...	ORPHA:1517
Autosomal Dominant Robinow Syndrome	Abnormal penis morphology, Finger syndactyly, Hypoplasia of penis, Hypospadias, Camptodactyly of ...	ORPHA:3107
Frontonasal Dysplasia 2	Microphthalmia, Oligohydramnios	OMIM:613451
Combined Oxidative Phosphorylation Deficiency 25	Intraventricular hemorrhage, Cerebral atrophy, Syndactyly	OMIM:616430
Branchiooculofacial Syndrome	Renal agenesis, Hypospadias, Renal cyst	OMIM:113620
Anemia, Congenital Dyserythropoietic, Type Ia	Syndactyly, Hydrops fetalis	OMIM:224120
Witteveen-Kolk Syndrome	Toe syndactyly, Hypospadias, Overlapping toe, Proximal placement of thumb, Phimosis, Arachnodacty...	OMIM:613406
Oculo-Palato-Cerebral Syndrome	Short foot, Microphthalmia, Small hand	ORPHA:2714
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th finger, Dry ...	ORPHA:69085
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Hypospadias, Optic nerve hypoplasia, Microphthalmia, Micropenis	OMIM:206900
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Monosomy 9P	Hypospadias, Proximal placement of thumb, Abnormality of the tarsal bones, Postaxial hand polydac...	ORPHA:261112
Adams-Oliver Syndrome 5	Pulmonary arterial hypertension, Brachydactyly, Pulmonic stenosis, Syndactyly	OMIM:616028
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Optic nerve hypoplasia, Adducted thumb	OMIM:614643
Igg4-Related Dacryoadenitis And Sialadenitis	Tubulointerstitial nephritis, Myositis, Thyroiditis, Keratoconjunctivitis sicca	ORPHA:79078
Hartsfield Syndrome	Syndactyly, Hypospadias, Microcephaly, Ectrodactyly, Micropenis, Agenesis of corpus callosum	OMIM:615465
Monosomy 9Q22.3	Palmar pits, Microphthalmia, Nephroblastoma, Polydactyly	ORPHA:77301
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Chromosome 13Q14 Deletion Syndrome	Overlapping toe, Single transverse palmar crease, Hip dislocation, Clinodactyly of the 5th finger...	OMIM:613884
Tetraamelia Syndrome 1	Microphthalmia, Renal agenesis, Hypoplastic pelvis, Urethral atresia	OMIM:273395
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia, Erythema, Pallor	OMIM:308300
Trichorhinophalangeal Syndrome, Type Ii	Syndactyly, Short metacarpal, Scapular winging, Single transverse palmar crease, Myocardial infar...	OMIM:150230
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Atelis Syndrome 2	Microphthalmia, Clinodactyly, Single transverse palmar crease	OMIM:620185
Vici Syndrome	Abnormal posturing	OMIM:242840
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Patent ductus arteriosus, Vesicoure...	OMIM:164210
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Single transverse palmar crease, Broa...	OMIM:612474
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Hypoplasia of penis, Anophthalmia	ORPHA:2250
Coffin-Siris Syndrome 12	Hypospadias, Microcephaly, Hip subluxation, Short thumb, Slender finger, Heart murmur, Cutaneous ...	OMIM:619325
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Single transverse palmar crease, Chordee, Microphthalmia, Micropenis	OMIM:309801
Diaphragmatic Hernia 4, With Cardiovascular Defects	Finger syndactyly, Optic nerve hypoplasia, Polyhydramnios, 2-3 toe syndactyly, Talipes equinovaru...	OMIM:620025
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Buphthalmos, Microphthalmia, Renal dysplasia, Optic nerve hypoplasia	OMIM:236670
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Postaxial hand polydactyly, Microphthalmia, Micropenis	OMIM:610829
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Thickened cortex of long bones, Abnormality of the medullary cavity of the long b...	OMIM:127000
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Finger clinodactyly, Pectoral muscle hypoplasia/aplasia, Microphthalmia,...	ORPHA:306542
Orofaciodigital Syndrome Type 4	Finger syndactyly, Renal agenesis, Camptodactyly of finger, Micromelia, Renal hypoplasia/aplasia,...	ORPHA:2753
Bloom Syndrome	Clinodactyly of the 5th finger, Syndactyly, Hand polydactyly, Facial erythema	OMIM:210900
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia	OMIM:613150
Autosomal Dominant Popliteal Pterygium Syndrome	Finger syndactyly, Toe syndactyly, Split hand	ORPHA:1300
Hallermann-Streiff Syndrome	Clinodactyly of the 5th finger, Microphthalmia, Small hand, Short foot	ORPHA:2108
Proboscis Lateralis	Anophthalmia, Optic nerve hypoplasia, Unilateral renal agenesis, Ureteral agenesis, Duplication o...	ORPHA:141099
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia	OMIM:253800
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Trichothiodystrophy	Bilateral microphthalmos, Clubbing, Dry skin	ORPHA:33364
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Broad hallux, Single transverse palmar crease, Polyhydramnios, Microphthalmia, Clinodactyly	OMIM:620186
Unilateral Polymicrogyria	Abnormal posturing	ORPHA:268943
Loeys-Dietz Syndrome 2	Syndactyly, Dermal translucency, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Abse...	OMIM:610168
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Adams-Oliver Syndrome 1	Microphthalmia, Toe syndactyly, Talipes equinovarus, Brachydactyly	OMIM:100300
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Anophthalmia, Hypospadias, Epispadias, Erythema, Microphthalmia	ORPHA:2556
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Metaphyseal widening, Phthisis bulbi, Tibial bowing	OMIM:259770
Aicardi Syndrome	Microphthalmia, Hip dysplasia, Small hand	ORPHA:50
Pallister-Killian Syndrome	Hypospadias, Patent ductus arteriosus, Renal cyst, Hypertrophic cardiomyopathy, Stillbirth, Aorti...	OMIM:601803
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Micropenis, Hypospadias	OMIM:603457
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Down-sloping shoulders, Short foot, Clinodactyly of the 5th finger, Brachydactyly	ORPHA:1974
Treacher-Collins Syndrome	Microphthalmia, Hypoplasia of penis	ORPHA:861
Autosomal Dominant Kenny-Caffey Syndrome	Cortical thickening of long bone diaphyses, Bilateral microphthalmos, Stenosis of the medullary c...	ORPHA:93325
Aicardi Syndrome	Microphthalmia, Proximal placement of thumb	OMIM:304050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina, Pallor	OMIM:253280
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musculature	ORPHA:1521
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Genu varum	ORPHA:1969
Holoprosencephaly 7	Microphthalmia, Bilateral microphthalmos	OMIM:610828
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Palmoplantar keratoderma	ORPHA:1071
Holoprosencephaly 1	Microphthalmia, Micropenis	OMIM:236100
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Mowat-Wilson Syndrome	Microphthalmia, Hypospadias, Abnormality of the kidney	OMIM:235730
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia	OMIM:175780
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Holoprosencephaly 2	Microphthalmia	OMIM:157170

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 Crim1

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 Crim1.

There are 5 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Crim1^{em1(IMPC)Wtsi}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Crim1^{em1(IMPC)Wtsi}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Crim1^{em1(IMPC)Wtsi} Crim1^em1Wtsi	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Crim1^em1Wtsi	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Crim1^em1Wtsi	PMC5827107

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MGI Allele	Allele Type	Produced
Crim1^{em1(IMPC)Wtsi}	Deletion	Mice
Crim1^{tm184348(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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: Crim1 MGI:1354756

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

DSS Histology

X-ray

X-ray

X-ray

X-ray

X-ray

Anti-nuclear antibody assay

Eye Morphology

Ear epidermis immunophenotyping

Legacy Phenotype Associated Images

Human diseases caused by Crim1 mutations

Histopathology

IMPC related publications

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