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Gene: Invs MGI:1335082

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Gene Summary

Name:
inversin
Synonyms:
N/A

Order Alleles

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
hemorrhage Invsem1(IMPC)Bay HOM E18.5 0.00
edema Invsem1(IMPC)Bay HOM E15.5 0.00
preweaning lethality, complete penetrance Invsem1(IMPC)Bay 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.

Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

2 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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Human diseases caused by Invs mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Senior-Loken Syndrome
Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease, Congenital hepatic fibr... ORPHA:3156

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Left atrial isomerism, Abdominal situs inversus, Intestinal malrota... OMIM:605376
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def... OMIM:617205
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Atrial situs inv... OMIM:615067
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
Lipedema
Edema OMIM:614103
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Polys... OMIM:208530
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Ciliary Dyskinesia, Primary, 39
Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext... OMIM:618254
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Dextrocardia
Meckel diverticulum, Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal EKG, Intesti... ORPHA:1666
Nephronophthisis 3
Hepatic fibrosis, Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insu... OMIM:604387
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Hypertrophic cardiomyopathy, Cholestasis, Situs inver... OMIM:615382
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp... ORPHA:1330
Primary Ciliary Dyskinesia
Atelectasis, Atrial situs ambiguous, Intestinal malrotation, Abnormal inferior vena cava morpholo... ORPHA:244
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Abnormal lung ... OMIM:615415
Senior-Boichis Syndrome
Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega... ORPHA:84081
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Right aortic arch, Bronchiectasis, Dextrocardia OMIM:617577
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia, Situs inversus totalis, Dextrocardia OMIM:618948
Heterotaxy, Visceral, 4, Autosomal
Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Polysplenia... OMIM:613751
RCAD (renal cysts and diabetes)
Abnormality of the liver, Multiple renal cysts DECIPHER:47
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Intestinal malrotation, Thoracic aortic aneurysm, Dextr... OMIM:619657
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Tubular basement membrane disintegration, Hyperechogenic kidneys, Stage 5 chron... OMIM:613159
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Right aortic arch, Situs inversus tot... OMIM:620642
Angioedema, Hereditary, 6
Facial edema, Edema of the dorsum of hands, Angioedema OMIM:619363
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development
Right aortic arch with mirror image branching OMIM:107500
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Bile duct prol... OMIM:208540
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Gastroesophageal reflux, Polysplenia, Situs inversus totalis, Recurrent sinu... OMIM:615482
Nephronophthisis 11
Hepatic fibrosis, Nephronophthisis, Tubular basement membrane disintegration, Growth delay, Stage... OMIM:613550
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Intestinal malrotation, Abnormal biliary tract morphology, Abnormal... ORPHA:3032
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation ORPHA:1705
Ciliary Dyskinesia, Primary, 52
Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ... OMIM:620570
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Elevated circulating hepatic ... OMIM:208085
Meacham Syndrome
Aortic valve stenosis, Hypoplastic left heart, Abnormal lung lobation, Tetralogy of Fallot, Abnor... ORPHA:3097
Laterality Defects, Autosomal Dominant
Asplenia, Situs inversus totalis, Heterotaxy OMIM:601086
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Volvulus, Duodenal stenosis, Int... ORPHA:210122
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Bilateral trilobed lung, Left superior vena c... OMIM:306955
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Atrioventricular canal defect, Persistent left superior vena cava, Tracheoesophageal fistula, Eso... OMIM:314390
Heterotaxy, Visceral, 5, Autosomal
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... OMIM:270100
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Elevated circulating hepatic ... OMIM:613404
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, E... OMIM:174000
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Dent Disease 2
Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Increased circulat... OMIM:300555
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Hyperuricemia, Renal cortic... OMIM:603860
Hepatorenocardiac Degenerative Fibrosis
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni... OMIM:619902
Nephronophthisis 1
Nephronophthisis, Tubular basement membrane disintegration, Growth delay, Stage 5 chronic kidney ... OMIM:256100
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Elevated circulating glutaric... OMIM:231680
Genitopalatocardiac Syndrome
Right aortic arch, Ventricular septal defect, Double outlet right ventricle, Transposition of the... OMIM:231060
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Arima Syndrome
Hepatic fibrosis, Nephronophthisis, Growth delay, Stage 5 chronic kidney disease, Occipital menin... OMIM:243910
Meckel Syndrome, Type 7
Aortic valve stenosis, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Situs inversus totalis... OMIM:267010
Congenital Heart Defects, Multiple Types, 2
Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea... OMIM:614980
Nephronophthisis 4
Nephronophthisis, Growth delay, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tub... OMIM:606966
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Bardet-Biedl Syndrome 10
Renal cyst, Obesity, Renal insufficiency OMIM:615987
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ga... ORPHA:95430
Double Outlet Right Ventricle
Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Intestinal malrotation, Tetralogy of Fa... ORPHA:3426
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Elevated pulmonary artery pressure, Edema OMIM:178400
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Situs inversus totalis, Abdominal situs inversus, Dextrocardia OMIM:619607
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia ORPHA:66630
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... ORPHA:860
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Renal hypoplasia, Renal cortical hyperechogenicity, Beta 2-microglobulinuria, Medullary nephrocal... OMIM:611555
Nephronophthisis 9
Nephronophthisis, Postnatal growth retardation, Stage 5 chronic kidney disease, Polyuria, Renal c... OMIM:613824
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hyperbilirubinemia, S... OMIM:620010
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Velopharyngeal insufficie... OMIM:192430
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect OMIM:601322
Senior-Loken Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis OMIM:606995
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Nephropathy, Chronic kidney disease, Cholestatic liver disease, Elevated circulating hepatic tran... OMIM:602114
Lambert Syndrome
Cholestasis, Failure to thrive in infancy, Intrauterine growth retardation, Branchial anomaly, Ve... ORPHA:1296
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Elevated circulating hepatic transaminase concentration, Renal tubular cyst, Gl... OMIM:614817
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart OMIM:241550
Peroxisome Biogenesis Disorder 6A (Zellweger)
Hepatomegaly, Renal cyst, Decreased liver function, Neonatal death OMIM:614870
Galactosemia Iii
Aminoaciduria, Galactosuria, Failure to thrive, Splenomegaly, Decreased beta-galactosidase activi... OMIM:230350
Hepatic Veno-Occlusive Disease
Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Renal insuffi... ORPHA:890
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Myocardial e... ORPHA:75566
Ventriculomegaly With Cystic Kidney Disease
Hyperechogenic kidneys, Renal insufficiency, Ventricular septal defect, Renal corticomedullary cy... OMIM:219730
Fallot Complex With Severe Mental And Growth Retardation
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Trichohepatoenteric Syndrome 1
Cholestasis, Large placenta, Ventricular septal defect, Cirrhosis, Hepatomegaly, Jaundice, Hyposp... OMIM:222470
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Galactosemia Ii
Prolonged neonatal jaundice, Galactosuria, Hypergalactosemia OMIM:230200
Bardet-Biedl Syndrome 16
Renal agenesis, Obesity, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, Short s... OMIM:615993
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Hyperca... OMIM:616963
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Cholestasis, Postnatal growth retardation, Dark urine, Hyperbilirubinemia, ... ORPHA:79303
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis, Obesity, Cryptorchidism OMIM:615633
Total Anomalous Pulmonary Venous Return 1
Total anomalous pulmonary venous return, Recurrent respiratory infections, Dextrocardia OMIM:106700
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Intrahepatic bile duct dilata... OMIM:614377
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:614679
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Pulmonary hypoplasia, A... ORPHA:99050
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Failure to thrive, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria,... OMIM:143880
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, Le... ORPHA:185
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Hepatomegaly... OMIM:613496
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:611884
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated gamma-glutamyltransferase level, Recurrent urinary tract infections, Elevated circulatin... OMIM:613095
Fanconi-Bickel Syndrome
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Hepatic failure, Glycosuria, Failure to... ORPHA:2088
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hyperparathyroidism, Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Hypercalciuria,... OMIM:239199
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Failure to thrive, Hepatosplenomegaly, Distal renal tubular acidosis, Hypokalem... OMIM:611590
Granulomatous Slack Skin
Erythema, Acute kidney injury, Hypercalcemia, Nephrocalcinosis ORPHA:33111
Isolated Polycystic Liver Disease
Increased total bilirubin, Multiple renal cysts, Hepatomegaly, Polycystic liver disease, Abnormal... ORPHA:2924
Atrial Septal Defect 2
Aortic regurgitation, Atrioventricular canal defect, Mitral regurgitation, Ventricular septal def... OMIM:607941
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Elevated gamma-glutamyltransferase level, Elevated... ORPHA:400
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne... OMIM:263200
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ... ORPHA:261243
Mpdu1-Cdg
Decreased response to growth hormone stimulation test, Renal cortical cysts, Abnormal circulating... ORPHA:79323
You-Hoover-Fong Syndrome
Double aortic arch, Cleft palate, Coarctation of aorta, Vascular ring OMIM:616954
Peroxisome Biogenesis Disorder 5A (Zellweger)
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Cryptorchidism, Elevat... OMIM:614866
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Polysplenia, Situs inversus totalis, Chronic bronchitis, Heterotaxy, Recurre... OMIM:613807
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Decreased response to growth ... OMIM:220210
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Nephrocalcinosis, Hypercalcemia OMIM:211000
Galactose Epimerase Deficiency
Aminoaciduria, Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Growth delay ORPHA:79238
Hypoglossia With Situs Inversus
Microglossia, Polysplenia, Situs inversus totalis, Asplenia, High palate OMIM:612776
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Chronic bronchitis, Ventricular septal defect, Dextrocardia, Recurrent re... OMIM:616037
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia OMIM:610896
Coach Syndrome 1
Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Elevated circulating hepatic trans... OMIM:216360
Thoraco-Abdominal Enteric Duplication
Duodenal stenosis, Intestinal malrotation, Abnormal tricuspid valve morphology, Dextrocardia, Hep... ORPHA:1759
Atrial Fibrillation, Familial, 13
Aortic valve stenosis, Left atrial enlargement, Paroxysmal atrial fibrillation OMIM:615377
Lambert Syndrome
Jaundice, Intrahepatic biliary atresia, Hypospadias OMIM:245550
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Polycystic liver disease, Elevated circulating alkaline phosphatase concentration, In... OMIM:174050
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... ORPHA:3384
Rotor Syndrome
Bilirubinuria, Hyperbilirubinemia, Abnormal circulating enzyme concentration or activity, Intermi... ORPHA:3111
Cog7-Cdg
Elevated circulating hepatic transaminase concentration, Failure to thrive, Abnormal heart morpho... ORPHA:79333
C Syndrome
Failure to thrive, Renal cortical cysts, Cryptorchidism, Ventricular septal defect, Hepatomegaly,... OMIM:211750
Tyrosinemia, Type I
Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Hypertrophic cardiomyopathy... OMIM:276700
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:618063
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Hypouricemia, Nephrocalcinosis, Elevated circulating hepatic transaminase concentr... OMIM:616026
Meacham Syndrome
Hypoplastic left heart, Accessory spleen, Tetralogy of Fallot, Scimitar anomaly, Right aortic arc... OMIM:608978
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Coronary Arterial Fistula
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... ORPHA:2041
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Cholestasis, Abnorma... ORPHA:85445
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Enlarged kidney, Failure to thrive OMIM:615285
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... ORPHA:1686
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Renal cortical cysts, Vesicoureteral re... OMIM:130650
Bardet-Biedl Syndrome 4
Renal cyst, Obesity, Cryptorchidism, Abnormality of the kidney OMIM:615982
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Coarctation of aorta, Bilateral lung agenesis, Patent ductus arteriosus, Abnormal cardiac septum ... OMIM:601612
Senior-Loken Syndrome
Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease, Congenital hepatic fibr... ORPHA:3156
Paget Disease Of Bone 6
Nephrocalcinosis, Left ventricular hypertrophy, Elevated circulating alkaline phosphatase concent... OMIM:616833
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated circulating hepatic transaminase concentration, Occipital encephalocele, Failure to thri... ORPHA:397715
Familial Isolated Hyperparathyroidism
Nephrocalcinosis, Renal insufficiency, Hyperphosphaturia, Hypercalciuria, Hypophosphatemia, Parat... ORPHA:99879
Ciliary Dyskinesia, Primary, 44
Recurrent sinusitis, Bronchiectasis, Heterotaxy OMIM:618781
Diabetic Embryopathy
Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Ventricular... ORPHA:1926
Rhyns Syndrome
Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis, Abnormality of the liver ORPHA:140976
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Congenital Heart Defects, Multiple Types, 9
Aortopulmonary collateral arteries, Hypoplastic left heart, Arteria lusoria, Unbalanced atriovent... OMIM:620294
3-Methylglutaconic Aciduria Type 7
Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Renal ... ORPHA:445038
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Nephrocalcinosis, Failure to thrive, Atrial septal defect ORPHA:500533
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Nephrocalcinosis, Failure to thrive, Distal renal tubular acidosis, Hypokalemia, Hypercalciuria, ... OMIM:602722
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve pro... ORPHA:228410
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, High, narrow palate, Elevated circulating long chain fatty acid concentration, Fai... OMIM:214100
Coach Syndrome 3
Portal fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal int... OMIM:619113
Blue Diaper Syndrome
Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, Hyp... ORPHA:94086
Hypoparathyroidism, Familial Isolated, 1
Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypoparathyroidism, Hypocalcemic seizures OMIM:146200
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Congenital Disorder Of Glycosylation, Type If
Renal cortical cysts, Failure to thrive OMIM:609180
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Slender build, Nephrocalcinosis, Atrial septal defect OMIM:611087
Fetal Trimethadione Syndrome
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Atrial septa... ORPHA:1913
Lymphoid Interstitial Pneumonia
Cor pulmonale, Aortic valve stenosis, Lymphocytic interstitial pneumonia OMIM:247610
Aortic Valve Disease 3
Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi... OMIM:618496
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Elevated gamma-glutamyltransferase l... OMIM:617093
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Coarctation of aorta, Right aortic arch OMIM:140850
Joubert Syndrome 18
Occipital encephalocele, Horseshoe kidney, Intrauterine growth retardation, Ventricular septal de... OMIM:614815
Gaucher Disease, Type Ii
Gastroesophageal reflux, Bronchiolitis, Recurrent aspiration pneumonia, Double aortic arch, Dysph... OMIM:230900
Bardet-Biedl Syndrome 18
Obesity, Stage 5 chronic kidney disease, Renal insufficiency OMIM:615995
Coproporphyria, Hereditary
Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Splenomegaly, Jaundice,... OMIM:121300
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Pleur... ORPHA:330001
Lipoprotein Glomerulopathy
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Ciliary Dyskinesia, Primary, 22
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Dextrocardia, Recurrent respirat... OMIM:615444
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Renal hypoplasia, Obesity, Renal insufficiency, Hepatic steatosis, Partia... OMIM:615996
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to thrive, In... OMIM:619868
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly OMIM:206400
Short Stature-Wormian Bones-Dextrocardia Syndrome
Anterior hypopituitarism, Cryptorchidism, Dextrocardia, High palate, Anal atresia, Patent ductus ... ORPHA:2863
Bardet-Biedl Syndrome 14
Obesity, Renal insufficiency OMIM:615991
Fanconi Anemia, Complementation Group O
Abnormal heart morphology, Stage 5 chronic kidney disease, Cryptorchidism, Neonatal death, Hydron... OMIM:613390
Ciliary Dyskinesia, Primary, 2
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Dextrocardia OMIM:606763
Hydroxykynureninuria
Jaundice, Elevated urinary 3-hydroxykynurenine level, Elevated urinary xanthurenic acid level OMIM:236800
Neonatal Hemochromatosis
Increased circulating iron concentration, Increased circulating ferritin concentration, Congenita... ORPHA:446
3C Syndrome
High, narrow palate, Aortic valve stenosis, Hypoplastic left heart, Gastroesophageal reflux, Recu... ORPHA:7
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Renal insufficiency, Ventricular septa... ORPHA:1909
Microphthalmia, Syndromic 9
Hypoplastic left atrium, Right aortic arch with mirror image branching, Agenesis of pulmonary ves... OMIM:601186
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn... OMIM:616217
Mosaic Trisomy 1
Renal cortical cysts, Penile hypospadias, Ventricular septal defect, Renal cyst, Hepatic agenesis... ORPHA:1692
Gaucher Disease, Type I
Aortic valve stenosis, Epistaxis, Hypersplenism, Pancytopenia, Mitral regurgitation, Splenomegaly... OMIM:230800
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Ar... ORPHA:363705
Nephronophthisis 18
Thickened glomerular basement membrane, Portal fibrosis, Nephronophthisis, Cholestasis, Stage 5 c... OMIM:615862
Meckel Syndrome, Type 8
Occipital encephalocele, Hyperechogenic kidneys, Encephalocele, Pericardial effusion, Polycystic ... OMIM:613885
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Abnormal hear... ORPHA:3400
Caroli Disease
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Elevated gamma-glu... ORPHA:53035
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Multinodular goiter ORPHA:2091
Hypophosphatasia, Infantile
Nephrocalcinosis, Disproportionate short-limb short stature, Phosphoethanolaminuria, Failure to t... OMIM:241500
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase conce... OMIM:619386
Retinitis Pigmentosa 59
Elevated circulating hepatic transaminase concentration, Failure to thrive, Intrauterine growth r... OMIM:613861
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, F... OMIM:260400
Non-Acquired Isolated Growth Hormone Deficiency
Growth delay, Microphallus, Premature skin wrinkling, Delayed puberty, Abdominal obesity, Prolong... ORPHA:631
Thomas Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Cleft palate, Renal hypoplasia/aplasia ORPHA:3316
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Tetralogy of F... ORPHA:1727
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca... OMIM:601198
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Aortic valve stenosis, Gastr... ORPHA:2306
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Gastroesophageal reflux, Intestinal malrotation, Tetralogy of Fallot, Cry... OMIM:618316
Lissencephaly Syndrome, Norman-Roberts Type
Dysphagia, Atrial septal defect, Patent foramen ovale, Hypoplastic spleen ORPHA:89844
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Nephrocalcinosis, Restrictive cardiomyopathy, Hydroureter, Ureteral stenosis, Large for gestation... OMIM:615398
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Dilated cardiomyopathy, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia... OMIM:620152
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Bicus... OMIM:618845
Emanuel Syndrome
Aortic valve stenosis, Gastroesophageal reflux, Recurrent respiratory infections, Intestinal malr... OMIM:609029
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Parathyroid Carcinoma
Nephrocalcinosis, Peptic ulcer, Renal hamartoma, Parathyroid carcinoma, Pancreatic adenocarcinoma... ORPHA:143
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, I... OMIM:179800
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Neonatal death, Ventricular septal defect, Hepatomegaly, Ectopic kidney, Cystic r... OMIM:613730
Glomerulopathy With Fibronectin Deposits 2
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... OMIM:601894
Heart Defects, Congenital, And Other Congenital Anomalies
Colon perforation, Interrupted aortic arch, Microcolon, Total absence of the pericardium, Hypopla... OMIM:600001
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase conc... ORPHA:93111
Wolcott-Rallison Syndrome
Chronic kidney disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentration,... ORPHA:1667
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Renal potassium ... ORPHA:564178
Dent Disease 1
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo... OMIM:300009
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Elevated circulating hep... OMIM:232220
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Ventricular septal defect, Overriding aorta, Atrial septal defect, Patent ductus arteriosus, Vasc... OMIM:601927
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension, Lymphedema OMIM:152900
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kidney disease, Ren... ORPHA:54370
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Hepatic steatosis, Polycystic ovaries, Tubulointerstitial fi... ORPHA:79259
Alagille Syndrome 2
Cholestatic liver disease, Renal hypoplasia, Cholestasis, Tetralogy of Fallot, Renal insufficienc... OMIM:610205
Nephronophthisis 7
Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis OMIM:611498
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Elevated circulating alanine aminotransferase concentration, H... OMIM:608836
Aortic Aneurysm, Familial Thoracic 7
Aortic rupture, Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:613780
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Nephronophthisis 15
Obesity, Nephronophthisis, Elevated circulating hepatic transaminase concentration OMIM:614845
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Volvulus, Failure to thrive, Recurrent urinary tract i... ORPHA:2970
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... OMIM:137950
Aortic Valve Disease 1
Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st... OMIM:109730
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Proximal tubulopathy, Protein-losing enteropa... OMIM:602579
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Elevated circulating long chain fatty acid concentration, Failure to thrive, Abnor... OMIM:214110
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Anal stenosis, Aplasia of posterior communicating artery, Situs inve... OMIM:613686
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre... OMIM:617056
Joubert Syndrome 5
Nephronophthisis, Occipital encephalocele, Stage 5 chronic kidney disease, Renal cortical cysts, ... OMIM:610188
Weill-Marchesani Syndrome
Aortic valve stenosis, Mitral regurgitation, Pulmonic stenosis, Ventricular septal defect ORPHA:3449
Jeune Syndrome
Nephropathy, Nephronophthisis, Abnormality of the liver, Renal insufficiency, Short stature ORPHA:474
Developmental And Epileptic Encephalopathy 41
Nephrocalcinosis OMIM:617105
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl... OMIM:619313
Senior-Loken Syndrome 8
Nephronophthisis, Stage 5 chronic kidney disease, Intrahepatic bile duct dilatation, Hepatic cyst... OMIM:616307
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Failure to thrive, Intrauterine growth retardation, Renal insufficiency, Decrea... ORPHA:320
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium... OMIM:618314
C3 Glomerulopathy 3
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... OMIM:614809
Skraban-Deardorff Syndrome
Right aortic arch, Cleft palate, Ventricular septal defect OMIM:617616
Aortic Valve Disease 2
Aortic valve stenosis, Aortic regurgitation, Calcification of the aorta, Mitral regurgitation, Pa... OMIM:614823
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Hypercalcemia, Papillary r... OMIM:145001
Alport Syndrome 3A, Autosomal Dominant
Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane... OMIM:104200
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole... OMIM:300554
Autosomal Recessive Polycystic Kidney Disease
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congeni... ORPHA:731
Metaphyseal Chondrodysplasia, Jansen Type
Severe short stature, Nephrocalcinosis, Hyperphosphaturia, Elevated circulating alkaline phosphat... OMIM:156400
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Grow... OMIM:232200
Alveolar Echinococcosis
Biliary cirrhosis, Decreased liver function, Abnormal mesentery morphology, Abnormal pericardium ... ORPHA:284
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve OMIM:615599
Peroxisome Biogenesis Disorder 10B
Nephrocalcinosis, Neurogenic bladder OMIM:617370
Absence Of The Pulmonary Artery
Recurrent pneumonia, Bronchiectasis, Abnormal coronary artery morphology, Tetralogy of Fallot, Ab... ORPHA:980
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... ORPHA:1414
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... OMIM:108800
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Nephritis, Hepatic fibrosis, Renal insufficiency, Proteinuria, Renal cyst... OMIM:208500
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Anterior pituitary agenesis, Hypoplastic tricuspid valve, Pancreatic hyp... ORPHA:2255
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Tetralogy of Fallot, Multiple renal cysts ORPHA:3033
Oculoskeletodental Syndrome
Short stature, Nephrocalcinosis, Hypercalcemia, Hypocalcemia ORPHA:557003
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Hyperammonemia, Renal insufficiency, Failure to thrive ORPHA:28
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Vesicoureteral reflux, Cryptorchidism, Renal hypoplasia/aplasia, Ventricular... ORPHA:1166
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Peptic ulcer, Renal hamartoma, Pancreatic adenocarcinoma, Abnormal parathyroid ... ORPHA:99880
Renal Cysts And Diabetes Syndrome
Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypospadias, Elevat... OMIM:137920
Atrial Septal Defect 4
Coarctation of aorta, Atrial septal defect, Patent foramen ovale OMIM:611363
Williams-Beuren Syndrome (WBS)
Aortic valve stenosis DECIPHER:3
Edinburgh Malformation Syndrome
Jaundice, Neonatal hyperbilirubinemia, Failure to thrive OMIM:129850
Senior-Loken Syndrome 9
Hepatic fibrosis, Nephronophthisis, Cholestasis, Obesity, Stage 5 chronic kidney disease, Tubuloi... OMIM:616629
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Macroglossia, Transposition of the great arteries, Cryptorchidism, Patent foramen ovale OMIM:616789
Babesiosis
Hepatic failure, Renal insufficiency, Splenomegaly, Hepatomegaly, Jaundice ORPHA:108
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Vascular dilatation, Patent ductus arteriosus OMIM:220220
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Truncus arteriosus, Ventricular ... OMIM:617478
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:300991
Alagille Syndrome 1
Cholestasis, Ventricular septal defect, Cirrhosis, Atrial septal defect, Duplicated collecting sy... OMIM:118450
Hypophosphatemic Rickets, Autosomal Recessive, 2
Medullary nephrocalcinosis, Hypophosphatemic rickets, Hyperphosphaturia, Elevated circulating alk... OMIM:613312
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Large for gestational age, Enlarged kidney, Nephroblastoma, Umbilical hernia OMIM:618272
Pseudo-Torch Syndrome 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased liver funct... OMIM:251290
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Obesity... OMIM:615630
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Increased circulating very long-chain fatty acid concentration, Polycystic kidney d... OMIM:614859
Peroxisome Biogenesis Disorder 11A (Zellweger)
Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased liver funct... OMIM:614883
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr... OMIM:618280
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Chronic kidney disease, Thickened glomerular basement membrane, Nephrocalcinosis, Unilateral rena... OMIM:146255
Mody
Nephropathy, Glycosuria, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Obesity, Intra... ORPHA:552
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Elevated circulating creatinine concentration, Unilateral renal hypoplasia, ... ORPHA:49041
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Pneumothorax, Dextrocardia, ... ORPHA:2257
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Sys... ORPHA:2299
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Peptic ulcer, Hypocalciuria, Multiple small medullary renal cysts, Renal insuffi... OMIM:600740
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Elevated circulating creatinine co... ORPHA:567544
Preeclampsia/Eclampsia 1
Hypertension, Edema OMIM:189800
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Duodenal atresia, Polysplenia, Intestinal malrotation, Situs inversus totalis, Partial atrioventr... OMIM:619608
Aortic Aneurysm, Familial Thoracic 4
Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Po... OMIM:132900
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular... ORPHA:229
Caroli Syndrome
Hypersplenism, Hyperbilirubinemia, Congenital hepatic fibrosis, Elevated circulating alkaline pho... ORPHA:480520
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Preeclampsia
Chronic kidney disease, Acute kidney injury, Elevated circulating hepatic transaminase concentrat... ORPHA:275555
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventricular canal ... ORPHA:251071
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Mitral ... ORPHA:324410
Emanuel Syndrome
Aortic valve stenosis, Bifid uvula, Gastroesophageal reflux, Recurrent respiratory infections, Cr... ORPHA:96170
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Decreased liver function, Cardiomyopathy, Renal insufficiency, Renal tubular ac... OMIM:614922
Meckel Syndrome, Type 4
Intrauterine growth retardation, Encephalocele, Ventricular septal defect, Renal cyst, Atrial sep... OMIM:611134
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Hyperbili... OMIM:301068
Cardiofacioneurodevelopmental Syndrome
Abdominal situs inversus, Atrioventricular canal defect, Cryptorchidism, Ventricular septal defec... OMIM:619123
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr... OMIM:617394
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Cardiomyopathy, Renal insufficiency, Splenomegaly, Hyperammonemia, Pancreatiti... ORPHA:79312
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Failure to thrive, Elevated circulating creatinine concentration, Hepatic steato... OMIM:617872
Peroxisome Biogenesis Disorder 8A (Zellweger)
Elevated circulating aspartate aminotransferase concentration, Ventricular septal defect, Hepatom... OMIM:614876
Meckel Syndrome, Type 10
Malformation of the hepatic ductal plate, Bifid uvula, Occipital encephalocele, Anencephaly, Rena... OMIM:614175
Lessel-Kubisch Syndrome
Short stature, Renal hypoplasia, Renal insufficiency, Premature graying of hair OMIM:618681
Nail-Patella-Like Renal Disease
Renal insufficiency, Proteinuria, Glomerulopathy, Short stature, Microscopic hematuria ORPHA:2613
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Enuresis, Failure to thrive, Recurrent urinary tract infections, Decreased glom... ORPHA:93598
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Branchial cyst, Intrauterine growth retardation, Ventricular se... OMIM:615583
Primary Hyperoxaluria
Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Elevated circulatin... ORPHA:416
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Subcutaneous calcification, Medullary nephrocalcinosis, Hypercalciuria OMIM:617993
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... OMIM:161900
Laurence-Moon Syndrome
Obesity, Renal insufficiency, Cryptorchidism, Congenital hepatic fibrosis, Displacement of the ur... ORPHA:2377
Dubin-Johnson Syndrome
Abnormal urinary color, Abnormality of the liver, Abnormal gastric mucosa morphology, Biliary tra... ORPHA:234
Glycogen Storage Disease Vii
Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Increased total biliru... OMIM:232800
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
High, narrow palate, Nephrocalcinosis, Abnormality of the urinary system, Restrictive cardiomyopa... ORPHA:369837
Joubert Syndrome 4
Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff... OMIM:609583
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide concentration, Medullary nephrocalcinosis, Hypo... ORPHA:157215
Kallmann Syndrome-Heart Disease Syndrome
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Anomalous origin of left coronary artery fro... ORPHA:2326
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Congestive ... ORPHA:139507
Criss-Cross Heart
Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve morphology, Ventricular sep... ORPHA:1461
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Growth delay, Beta 2-microglobulinuria, Glyco... ORPHA:97362
Galactosemia Iv
Hepatomegaly, Prolonged neonatal jaundice, Hypergalactosemia OMIM:618881
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Postnatal growth retardation, Intrauterine growth retardation, Elevated circulat... OMIM:616733
Zellweger Syndrome
Multicystic kidney dysplasia, Hepatic failure, Failure to thrive, Cryptorchidism, Ventricular sep... ORPHA:912
Meckel Syndrome, Type 2
Intestinal malrotation, Intrauterine growth retardation, Encephalocele, Renal cyst, Meningocele, ... OMIM:603194
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Abnormality of the liver, Biliary tract abnormality, Prolonged neona... ORPHA:79234
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypouricemia, Acute kidney injury, Decreased glomerular filtration rate, ... ORPHA:94088
Lymphatic Malformation 14
Lymphedema OMIM:620602
Lymphatic Malformation 2
Lymphedema OMIM:611944
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:608644
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Coronary artery aneurysm, Descending aortic dissection, Ascending aort... OMIM:615436
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperparathyroidism, Nephrocalcinosis, Hyperphosphatemia, Elevated circulating alkaline phosphata... OMIM:211900
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Nephrocalcinosis, Cholelithiasis, Chronic active hepatitis, Hypoparathyroidis... OMIM:240300
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Neonatal cholestatic ... ORPHA:79301
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia, Situs inversus totalis OMIM:614844
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Nephrocalcinosis, Failure to thrive, Intrauterine growth retardation, Atrial septal defect, Short... OMIM:618005
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Ventricular septal defect, Renal cyst, Atrial septal defect, Stillbirth OMIM:263630
Intellectual Developmental Disorder, Autosomal Dominant 66
Cerebral cavernous malformation, Secundum atrial septal defect, Aortic root aneurysm, Transpositi... OMIM:619910
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Pulmonic stenosis OMIM:614819
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Aortic valve calcification, Abnormal pulse pressure, Increased QRS voltage... ORPHA:3093
Thiamine-Responsive Megaloblastic Anemia Syndrome
Gastroesophageal reflux, Cardiomyopathy, Sideroblastic anemia, Situs inversus totalis, Cryptorchi... OMIM:249270
Campomelia, Cumming Type
Polysplenia, Short stature, Pancreatic cysts, Polycystic kidney dysplasia, Polycystic liver disease OMIM:211890
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Multicystic kidney dysplasia, Occipit... OMIM:607361
Intellectual Disability-Strabismus Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Medullary nephrocalcino... ORPHA:363528
Lesch-Nyhan Syndrome
Nephrocalcinosis, Hyperuricemia, Nephrolithiasis, Hyperuricosuria, Testicular atrophy, Short stature OMIM:300322
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Tetralogy of Fallot, Cryptorchidism, Persistent left superior vena cava, Overriding aorta, Double... ORPHA:3304
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits ORPHA:69063
Isolated Biliary Atresia
Elevated gamma-glutamyltransferase level, Cholestasis, Hypopituitarism, Elevated circulating alka... ORPHA:30391
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hematuria, Weight loss, Hypophosphatemia, Hepatome... OMIM:219800
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Aortic regurgitation, Tetralogy of Fallot, Conotruncal defect, Protruding ... ORPHA:96147
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Failure to thrive, Hyperechogenic kidneys, Hypomagnesemia, Hyperuricemia,... OMIM:613845
Recombinant Chromosome 8 Syndrome
Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Double outlet right ventricle, At... OMIM:179613
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Elevated circulating creatinine concentration, Proteinuria, Increased ... OMIM:274150
Hypomagnesemia 3, Renal
Chronic kidney disease, Hyperphosphatemia, Elevated circulating alkaline phosphatase concentratio... OMIM:248250
Paternal Uniparental Disomy Of Chromosome 1
Obesity, Proteinuria, Delayed puberty, Increased blood urea nitrogen, Membranoproliferative glome... ORPHA:251004
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Renal Tubular Acidosis Iii
Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Dicarboxylic aciduria, Hepatic steatosis, Myoglobinuria, Reduced tissue carnitine O-palmitoyltran... ORPHA:228308
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Moyamoya phenomenon, Stroke-li... OMIM:300845
Dubin-Johnson Syndrome
Jaundice, Conjugated hyperbilirubinemia, Biliary tract abnormality OMIM:237500
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Cholestasis, Splenomegaly, Hypocalcemia, Hepatomegaly, Jaundice, Short stature ORPHA:172
Macular Dystrophy, Dominant Cystoid
Edema, Cystoid macular edema OMIM:153880
Aortic Aneurysm, Familial Thoracic 6
Premature coronary artery atherosclerosis, Moyamoya phenomenon, Aortic aneurysm, Descending aorti... OMIM:611788
Developmental And Epileptic Encephalopathy 102
Hepatomegaly, Gastroesophageal reflux, Situs inversus totalis, Atrial septal defect OMIM:619881
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Arrhythmia, Transposition of the great arteries, Paroxy... OMIM:617877
Joubert Syndrome 16
Renal cyst, Nephronophthisis, Encephalocele OMIM:614465
Cholangiocarcinoma
Biliary tract neoplasm, Jaundice, Acholic stools ORPHA:70567
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Homocystinuria, Methylmalonic aciduria, Failure to thrive, Decreased methionine synthase activity... OMIM:250940
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Whim Syndrome 2
Tetralogy of Fallot, Chronic neutropenia OMIM:619407
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kid... OMIM:615008
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic... ORPHA:2248
Carpenter Syndrome 1
Polysplenia, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Transposition of the... OMIM:201000
Hyperoxaluria, Primary, Type Ii
Nephrocalcinosis, Reduced hepatic glyoxylate reductase activity, Hyperoxaluria, Renal insufficien... OMIM:260000
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Growth delay, Failure to thrive, Low-molec... ORPHA:18
Developmental And Epileptic Encephalopathy 66
Cryptorchidism, Ventricular septal defect, Atrial septal defect, Neutropenia, Dextrocardia, Anemia OMIM:618067
Gaisböck Syndrome
Peptic ulcer, Nephrocalcinosis, Hypernatriuria, Obesity, Cholecystitis, Hyperuricemia, Plethora, ... ORPHA:90041
Meckel Syndrome, Type 9
Multicystic kidney dysplasia, Occipital encephalocele OMIM:614209
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Growth delay, Hypoproteinemia, Congenital nephrotic syndrome, Renal insufficienc... OMIM:256300
Meckel Syndrome, Type 5
Occipital encephalocele, Renal cyst, Anencephaly, Bile duct proliferation, Cleft palate OMIM:611561
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency OMIM:607832
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Pancreatitis, Hepatomegaly, Growt... ORPHA:289916
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Renal cortical cysts, Vesicoureteral reflux, Elevated circulating alkaline phosphatase concentration OMIM:618548
Arterial Tortuosity Syndrome
Aortic valve stenosis, Bifid uvula, Ventricular hypertrophy, Aortic regurgitation, Aortic root an... OMIM:208050
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Acquired Von Willebrand Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastrointestinal hemorrhage, Joint hemorrhage, Hypot... ORPHA:99147
Crigler-Najjar Syndrome, Type Ii
Reduced tissue UDP-glucuronyl-transferase activity, Jaundice, Elevated circulating hepatic transa... OMIM:606785
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Recurrent urinary tract infect... OMIM:248190
Cat Eye Syndrome
Ventricular septal defect, Atrial septal defect, Rectal atresia, Anal atresia, Patent ductus arte... OMIM:115470
Carnitine Palmitoyltransferase Ii Deficiency
Elevated circulating acylcarnitine concentration, Red-brown urine, Hepatic failure, Cardiomyopath... ORPHA:157
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis OMIM:613779
Axial Osteomalacia
Renal cyst, Polycystic liver disease, Elevated circulating creatine kinase concentration OMIM:109130
Diaphanospondylodysostosis
Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis, Intrauterine growth retardation, Disprop... OMIM:608022
Colonic Atresia
Peptic ulcer, Colonic atresia, Abdominal situs inversus, Abnormal mesentery morphology, Duodenal ... ORPHA:1198
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:618176
Rabson-Mendenhall Syndrome
Nephrocalcinosis, Long penis, Cardiomyopathy, Premature graying of hair, Furrowed tongue, Intraut... ORPHA:769
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Congestive heart failure, A... ORPHA:363618
Ciliary Dyskinesia, Primary, 35
Recurrent pneumonia, Abdominal situs ambiguus, Situs inversus totalis, Bronchiectasis OMIM:617092
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentration, Ureterocel... ORPHA:261265
Immunodeficiency 91 And Hyperinflammation
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... OMIM:619644
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Congenital hepatic fibrosis, Renal cyst, Short stature, Meningocele... ORPHA:2031
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Polysplenia, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hypoplasia o... OMIM:200995
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Nephrocalcinosis, Hyperchloriduria, Renal juxtaglomerular cell hypertrophy/h... OMIM:601678
Harderoporphyria
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Increased urinary porp... OMIM:618892
Trisomy 8P
Bifid uvula, Nephrocalcinosis, Malrotation of small bowel, Annular pancreas, Tetralogy of Fallot,... ORPHA:264450
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Splenomegaly, Hypocalce... OMIM:617913
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:620032
Combined Oxidative Phosphorylation Deficiency 55
Proximal tubulopathy, Organic aciduria, Hypomagnesemia, Stage 3 chronic kidney disease, Medullary... OMIM:619743
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria, Jaundice, Hepatosplenomegaly ORPHA:33574
Cystinuria
Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu... OMIM:220100
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Stroke, Persistent ... ORPHA:1457
Thoracoabdominal Syndrome
Transposition of the great arteries, Ectopia cordis, Patent ductus arteriosus, Cleft palate, Pulm... OMIM:313850
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Hepatosplenomegaly, Intestinal obstructi... ORPHA:85450
Autoimmune Hepatitis
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Spi... ORPHA:2137
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Vascular ring, Ventricular septal defect OMIM:603387
Nephronophthisis
Renal insufficiency ORPHA:655
Microvillus Inclusion Disease
Nephrocalcinosis, Villous atrophy, Abnormal small intestinal villus morphology, Abnormal renal ph... ORPHA:2290
Igg4-Related Kidney Disease
Chronic kidney disease, Urethritis, Abnormal mesentery morphology, Hematuria, Abnormality of the ... ORPHA:449395
Familial Tumoral Calcinosis
Hepatomegaly, Erythema, Nephrocalcinosis, Splenomegaly ORPHA:53715
Primary Hyperoxaluria Type 3
Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo... ORPHA:93600
Mosaic Trisomy 9
Abnormal lung lobation, Intestinal malrotation, Abnormal heart valve morphology, Endocardial fibr... ORPHA:99776
Bardet-Biedl Syndrome 17
Situs inversus totalis, Dextrocardia OMIM:615994
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:614199
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Atelectasis OMIM:615872
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Bronchiectasis OMIM:615451
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Secundum atrial septal defect, Branchial ... ORPHA:2260
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Umbilical hernia, Cholestasis, Intrauterine g... OMIM:610199
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Isolated Growth Hormone Deficiency, Type Ia
Prolonged neonatal jaundice, Growth delay, Severe short stature OMIM:262400
Diaphanospondylodysostosis
Myelomeningocele, Multiple renal cysts, Cleft palate ORPHA:66637
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent... OMIM:619658
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia, Rhizomelia, Hypoplastic left... OMIM:617661
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Nephrocalcinosis, Cardiomyopathy, Splenomegaly, Growth delay OMIM:616084
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated gamma-glutamyltransferase level, Increased urinary glycerol, Cholestasis, Hepatosplenome... ORPHA:247598
Von Willebrand Disease, Type 1
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Gastrointestinal angiodysplasia, M... OMIM:193400
Relapsing Fever
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Abnormality of the ... ORPHA:91547
Congenital Disorder Of Glycosylation, Type Iie
Growth delay, Failure to thrive, Decreased liver function, Secundum atrial septal defect, Elevate... OMIM:608779
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa... ORPHA:567548
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Macroglossia, Hypoalbuminemia, Hypertrophic cardio... OMIM:617303
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Bifid uvula, Absence of the pulmonary valve, Congestive heart failure, Dec... OMIM:601808
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Volvulus, Horseshoe kidney, Abnormal... OMIM:301111
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Intestinal malrotation, Tetralogy of Fallot, Abnormal heart morphology, Palp... ORPHA:2847
Kaposiform Lymphangiomatosis
Bruising susceptibility, Hepatosplenomegaly, Splenomegaly, Ecchymosis, Abnormal spleen morphology... ORPHA:464329
Familial Mediterranean Fever
Nephropathy, Erythema, Nephrocalcinosis, Oral leukoplakia, Acute hepatic failure, Splenomegaly, I... ORPHA:342
Mirage Syndrome
Gastroesophageal reflux, Aspiration pneumonia, Decreased testicular size, Lymphopenia, Leukopenia... OMIM:617053
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement, Nephrocalcinosis, Hypophosphatemic rickets OMIM:614473
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... ORPHA:93599
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Ureteropelvic junction obstruction, Hydronephrosis... OMIM:154230
Campomelia, Cumming Type
Multicystic kidney dysplasia, Prematurely aged appearance, Abnormal intestine morphology, Multipl... ORPHA:1318
Alg1-Cdg
Hypoalbuminemia, Protein-losing enteropathy, Decreased liver function, Cardiomyopathy, Abnormal h... ORPHA:79327
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Hepatosplenomegaly, Hepatic steatosis, Weight loss, Glome... OMIM:619487
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Ciliary Dyskinesia, Primary, 18
Recurrent sinusitis, Abdominal situs ambiguus, Situs inversus totalis, Chronic bronchitis OMIM:614874
Say Syndrome
Short stature, Cleft palate, Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Legionnaires Disease
Hepatitis, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Hyponatremia, Pancreatitis,... ORPHA:549
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the ureter, Abnormality of the ... ORPHA:2869
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Bicuspid aortic valve, Patent ductus arteriosus, Cryptorchidism OMIM:243310
Mirror Movements 3
Situs inversus totalis OMIM:616059
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Arrhythm... ORPHA:154
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,... OMIM:614131
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Nephrocalcinosis, Dilated cardiomyopathy, Hypomagnesemia, Hypo... ORPHA:73224
Ververi-Brady Syndrome
High palate, Transposition of the great arteries OMIM:617982
Joubert Syndrome 7
Renal cyst, Stage 5 chronic kidney disease, Encephalocele, Nephronophthisis OMIM:611560
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Stage 5 chronic kidn... OMIM:603278
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Abnormal stomach morphology, Renal insufficiency, Cryptorchidism, Test... ORPHA:281090
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Colonic diverticula, Renal insufficiency, Hepatic cysts, Mitral valve prolapse, Polycystic kidney... OMIM:173900
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormality of the ureter, Abnormality of the spleen, Abnormal... ORPHA:1834
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati... OMIM:618061
Diffuse Neonatal Hemangiomatosis
Renal insufficiency, Renal hypoplasia/aplasia, Hepatomegaly, Hypercalcemia, Patent ductus arteriosus ORPHA:2123
Bartter Syndrome Type 4
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Small for gestational age, Failure... ORPHA:89938
Pseudoxanthoma Elasticum
Nephrocalcinosis, Restrictive cardiomyopathy, Bruising susceptibility, Excessive wrinkled skin, M... ORPHA:758
Vacterl/Vater Association
Multicystic kidney dysplasia, Abnormality of the urethra, Occipital encephalocele, Renal agenesis... ORPHA:887
Crigler-Najjar Syndrome, Type I
Jaundice, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilirubinemia OMIM:218800
Liver Failure, Infantile, Transient
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, ... OMIM:613070
Acrorenal Syndrome
Abnormal renal morphology, Renal insufficiency, Cleft palate, Renal hypoplasia/aplasia ORPHA:971
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Lethal Infantile Mitochondrial Myopathy
Renal insufficiency, Cardiomyopathy, Fatal liver failure in infancy ORPHA:254857
Congenital Disorder Of Glycosylation, Type Iiaa
Unilateral renal agenesis, Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of... OMIM:620454
Peroxisome Biogenesis Disorder 13A (Zellweger)
Intrahepatic cholestasis, Increased circulating very long-chain fatty acid concentration, Dicarbo... OMIM:614887
Complement Factor H Deficiency
Chronic kidney disease, Hematuria, Thickened glomerular basement membrane, Glomerular subendothel... OMIM:609814
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Reduced circulating alpha-1-antitrypsin concentration, Hepatitis, Cholestasis, J... ORPHA:60
Nephrosialidosis
Nephropathy, Nephrotic syndrome, Pericardial effusion, Renal insufficiency OMIM:256150
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Failure to thrive, Hypocholesterolemia, Pericardial effusion, Villous atrophy, S... OMIM:608776
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Hydranencephaly, Ureteral agenesis, Neonatal death, Renal cyst, Stillbirth, Ren... OMIM:236500
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Renal cyst, Increased circulating very long-chain fatty acid concentration OMIM:614862
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Villous atrophy, Microvesicula... OMIM:619377
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:616893
Drug-Induced Lupus Erythematosus
Petechiae, Elevated circulating creatine kinase concentration, Hematuria, Increased blood urea ni... ORPHA:231111
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:301028
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency, Euthyroid goiter ORPHA:3327
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Acute pancreatitis, Elevated circulating hepatic tr... ORPHA:26791
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Testicular torsion, Cryptorchidism, Pulmonic stenosis ORPHA:75496
Leprechaunism
Megarectum, Nephrocalcinosis, Long penis, Failure to thrive, Hypertrophic cardiomyopathy, Postnat... ORPHA:508
Renpenning Syndrome
High, narrow palate, Severe short stature, Growth delay, Decreased testicular size, Heterotaxy, C... ORPHA:3242
Biliary, Renal, Neurologic, And Skeletal Syndrome
Elevated gamma-glutamyltransferase level, Unbalanced atrioventricular canal defect, Dilatation of... OMIM:619534
Meckel Syndrome, Type 6
Hepatic fibrosis, Occipital encephalocele, Aplasia of the bladder, Horseshoe kidney, Absent gallb... OMIM:612284
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:616032
Transketolase Deficiency
Increased level of ribose in urine, Elevated circulating ribitol concentration, Abnormal heart mo... ORPHA:488618
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... ORPHA:65682
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Elevated circulating palmitoleylcarnitine concentration, Methylmalonic... ORPHA:79284
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Nephronophthisis, Polyuria OMIM:606996
Hepatitis Delta
Hepatic failure, Hepatitis, Bruising susceptibility, Elevated circulating aspartate aminotransfer... ORPHA:402823
Meckel Syndrome 13
Polycystic kidney dysplasia, Occipital encephalocele OMIM:617562
Cockayne Syndrome Type 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Progeroid facial appe... ORPHA:90321
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hyperlipidem... OMIM:600995
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentrati... ORPHA:540
Johanson-Blizzard Syndrome
Anteriorly placed anus, Exocrine pancreatic insufficiency, Abnormal cardiac septum morphology, De... ORPHA:2315
Joubert Syndrome 20
Renal cyst OMIM:614970
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Stage ... OMIM:615573
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Intrauteri... ORPHA:858
Reticuloendotheliosis, X-Linked
Jaundice, Hepatosplenomegaly OMIM:312500
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy, Renal insufficiency, Hyperammonemia, Pancreatitis, Hepatomegaly ORPHA:27
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne... OMIM:612925
Hyperbilirubinemia, Rotor Type
Jaundice, Conjugated hyperbilirubinemia OMIM:237450
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion OMIM:618773
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Ventricular septal defect, Bicuspid aortic valve, Atrial se... OMIM:265380
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Anemia, Tracheoesophageal fistula, Megaloblastic anemia, Atrial septal defect, Dext... OMIM:277380
Trisomy 17P
Aortic valve stenosis, Hypoplastic left heart, Macroglossia, High palate, Patent ductus arteriosu... ORPHA:261290
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect, Intes... ORPHA:3405
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Obesity, Ventricular septal defect, Hydr... OMIM:620511
Igg4-Related Aortitis
Abnormal aortic arch morphology, Aortic dissection, Abnormal common carotid artery morphology, In... ORPHA:449400
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Weiss-Kruszka Syndrome
Dextrotransposition of the great arteries, Bicuspid aortic valve, Left ventricular hypertrophy, V... OMIM:618619
Birt-Hogg-Dube Syndrome 1
Renal cyst, Large intestinal polyposis, Renal cell carcinoma, Renal neoplasm, Colon cancer OMIM:135150
Jaundice, Familial Obstructive, Of Infancy
Jaundice, Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Jaundice, Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Jaundice, Neonatal unconjugated hyperbilirubinemia OMIM:237900
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated... ORPHA:329918
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Glomerular sclerosis, Increased blood urea nitroge... OMIM:223900
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Hepatic fail... OMIM:251880
Alg6-Cdg
Hypoalbuminemia, Protein-losing enteropathy, Macroglossia, Failure to thrive, Abnormality of the ... ORPHA:79320
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple... OMIM:214900
Monosomy 18Q
Aortic valve stenosis, Secondary growth hormone deficiency, Secundum atrial septal defect, Absenc... ORPHA:1600
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Elevated circulating acylcarnitine concentration, Red-brown urine, Stage 5 chronic kidney disease... ORPHA:228302
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Microcytic anemia, Abn... ORPHA:90308
Marden-Walker Syndrome
High, narrow palate, Pulmonary hypoplasia, Cryptorchidism, Zollinger-Ellison syndrome, Dextrocard... OMIM:248700
Bardet-Biedl Syndrome 8
Situs inversus totalis OMIM:615985
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Failure to thrive, Low-molecular-wei... ORPHA:47159
Bartter Syndrome, Type 3
Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Increased urinary potassium, Impaired renal tu... OMIM:607364
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Persis... OMIM:609008
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Megarectum, Elevated circulating hepatic transaminase concentration, Leukopenia, Cryptorchidism, ... OMIM:301056
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ... ORPHA:90301
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Rhizomelia, Supernumerary nipple, Elevated circulating creatinine concentration... OMIM:614376
Meckel Syndrome, Type 11
Polycystic kidney dysplasia, Occipital encephalocele OMIM:615397
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Recurrent upper respiratory tract infections, Intimal thickening in the co... OMIM:253010
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Bifid uvula, Hypoplastic left heart, Mitral stenosis, Submucous cleft hard... OMIM:617660
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Abnormal lung lobation, Abnormal aortic morphology, Truncus arteriosus, Vent... ORPHA:2516
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Dextrotransposition of the great arteries, High palate, Ventricular septal defect OMIM:619995
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Supernumerary nipple, Tricuspid regurgitation, Atrioventricular canal defect, Cryptorchidism, Coa... OMIM:618929
Ciliary Dyskinesia, Primary, 27
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections... OMIM:615504
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Tetralogy of Fallot, Abnormal heart morphology, Atrioventricular dissocia... OMIM:614954
Hypercholanemia, Familial, 2
Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Increased serum bile acid concentra... OMIM:619256
Thakker-Donnai Syndrome
Tetralogy of Fallot, Ventricular septal defect, Tracheoesophageal fistula, Transposition of the g... ORPHA:1780
Galloway-Mowat Syndrome 2, X-Linked
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Intrauterine growth retard... OMIM:301006
Hyperoxaluria, Primary, Type I
Nephrocalcinosis, Cutis marmorata, Hyperoxaluria, Renal insufficiency, Hematuria, Elevated urinar... OMIM:259900
Ciliary Dyskinesia, Primary, 24
Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:615481
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Hypocitraturia, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis OMIM:620374
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero... OMIM:256370
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Situs inversus totalis, Recurrent bronchitis, Asplenia, Bronchiectasis OMIM:244400
Ciliary Dyskinesia, Primary, 28
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections... OMIM:615505
Joubert Syndrome 15
Micropenis, Nephronophthisis, Exencephaly OMIM:614464
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal cyst, Renal insufficiency, Elevated circulating creatine kinase concentration OMIM:611773
Crigler-Najjar Syndrome Type 2
Prolonged neonatal jaundice, Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612926
Prolidase Deficiency
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, P... OMIM:170100
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Elevated circula... OMIM:614455
Poland Syndrome
Dextrocardia OMIM:173800
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Persistent left super... ORPHA:477817
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Increased circulating iron concentration, Hepatocellular necro... OMIM:231100
Fibronectin Glomerulopathy
Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glom... ORPHA:84090
Ciliary Dyskinesia, Primary, 13
Bronchiectasis, Situs inversus totalis, Recurrent bronchitis, Recurrent sinusitis OMIM:613193
Alagille Syndrome
Failure to thrive, Cholestasis, Abnormality of the ureter, Intrauterine growth retardation, Crypt... ORPHA:52
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Acute kidney injury, Abnormal circulating lactate dehydrogenase concentra... ORPHA:2134
Rhabdomyolysis, Susceptibility To, 1
Renal insufficiency, Abnormal circulating acylcarnitine concentration, Elevated circulating creat... OMIM:620235
Oculocerebrorenal Syndrome Of Lowe
Cryptorchidism, Hematuria, Hypophosphatemia, Proximal renal tubular acidosis, Aminoaciduria, Rena... ORPHA:534
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Failure to thriv... OMIM:613812
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Aortic regurgitation, Aortic valve calcification, Hypoplastic left heart, ... ORPHA:402075
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, Hy... ORPHA:656
Nephronophthisis-Like Nephropathy 2
Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc... OMIM:619468
Right Pulmonary Artery, Anomalous Origin Of, Familial
Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... OMIM:610338
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Abnormal mesentery morphology, Abnormality of the gallbladder, Intr... ORPHA:2075
Ketamine-Induced Biliary Dilatation
Dysuria, Abnormal biliary tract morphology ORPHA:293807
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis OMIM:204690
Jacobsen Syndrome
Aortic valve stenosis, Hypoplastic left heart, Bone marrow hypocellularity, Annular pancreas, Int... ORPHA:2308
Congenital Pancreatic Cyst
Jaundice, Pancreatitis ORPHA:313906
Galloway-Mowat Syndrome 8
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hematuria, P... OMIM:618349
Pearson Syndrome
Postnatal growth retardation, Hepatic steatosis, Hypophosphatemia, Hypoparathyroidism, Hepatomega... ORPHA:699
Orthostatic Hypotension 1
Hypomagnesemia, Increased blood urea nitrogen, Nocturia, Elevated circulating dihydroxyphenylacet... OMIM:223360
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hyperammonemia, Hyperleucinemia, Decreased body weight, Hypervalinemia, Increa... OMIM:620085
Nabais Sa-De Vries Syndrome, Type 1
Prolonged neonatal jaundice, Vesicoureteral reflux OMIM:618828
Ellis Van Creveld Syndrome
Acute leukemia, Atrioventricular canal defect, Abnormal heart valve morphology, Emphysema, Situs ... ORPHA:289
Ciliary Dyskinesia, Primary, 43
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:618699
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Abnormal circulating lactate dehydrogenase concentration, Renal insufficienc... ORPHA:54057
Rhyns Syndrome
Chronic kidney disease, Nephronophthisis, Decreased response to growth hormone stimulation test, ... OMIM:602152
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Renal insufficiency, Proteinuria, Decreased lecithin cho... OMIM:245900
Variant Abeta2M Amyloidosis
Chronic kidney disease, Renal amyloidosis, Hepatic amyloidosis, Abnormal salivary gland morpholog... ORPHA:314652
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri... OMIM:612924
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency OMIM:249660
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate... OMIM:120330
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentratio... ORPHA:1454
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Aortic aneurysm, Descending aortic dissection, Ascending aortic dissection OMIM:617349
Beta-Thalassemia Intermedia
Abnormality of iron homeostasis, Cholelithiasis, Proximal tubulopathy, Decreased liver function, ... ORPHA:231222
Xanthinuria, Type Ii
Hypouricemia, Increased circulating hypoxanthine concentration, Increased urinary hypoxanthine le... OMIM:603592
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema... OMIM:613237
Fibromuscular Dysplasia, Arterial
Stroke, Arterial fibromuscular dysplasia, Aortic dissection OMIM:135580
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Joubert Syndrome 6
Hepatic fibrosis, Stage 5 chronic kidney disease, Bile duct proliferation, Nephronophthisis OMIM:610688
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hepatic failure, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Double ... OMIM:614886
Aapoaiv Amyloidosis
Chronic kidney disease, Renal amyloidosis, Hypertrophic cardiomyopathy, Elevated circulating crea... ORPHA:439232
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts, Decreased liver function OMIM:600666
Al Amyloidosis
Xerostomia, Abnormal cardiac atrium morphology, Elevated circulating alkaline phosphatase concent... ORPHA:85443
Stormorken Syndrome
Epistaxis, Howell-Jolly bodies, Stroke-like episode, Subarachnoid hemorrhage, Thrombocytopenia, A... OMIM:185070
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hepatic fibrosis, Proximal tubulopathy, Elevated circulating hepatic transaminas... OMIM:212065
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Hyperuricemia, Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts OMIM:609886
Ciliary Dyskinesia, Primary, 16
Pulmonary insufficiency, Situs inversus totalis, Bronchiectasis OMIM:614017
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Atrial septal defect, Cleft palate ORPHA:459061
Castleman Disease
Restrictive cardiomyopathy, Ureteral obstruction, Renal insufficiency, Intestinal obstruction, He... ORPHA:160
Cryoglobulinemic Vasculitis
Abnormality of the liver, Cutis marmorata, Renal insufficiency, Splenomegaly, Petechiae, Hematuri... ORPHA:91138
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hyperparathyroidism, Renal insufficiency, Proteinuria, Glomerulopathy, Hypercalcemia ORPHA:2668
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Systemic Capillary Leak Syndrome
Oliguria, Renal insufficiency, Abnormal renal tubule morphology, Pancreatitis, Weight loss, Myoca... ORPHA:188
Cystinosis
Nephropathy, Aminoaciduria, Failure to thrive, Renal insufficiency, Portal hypertension, Renal tu... ORPHA:213
O'Donnell-Luria-Rodan Syndrome
Prolonged neonatal jaundice, Cryptorchidism OMIM:618512
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta, Secundum atrial septal defect, Perimembranous ventricular septal defect OMIM:212090
Bartter Syndrome, Type 5, Antenatal, Transient
Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I... OMIM:300971
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, Dilated c... OMIM:616730
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Cholesteryl Ester Storage Disease
Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal... ORPHA:75234
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis, Renal hypoplasia, Short uvula, Renal cyst, Short stature, Polycystic kidney dys... OMIM:614091
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio... OMIM:143400
Mastocytosis, Cutaneous
Telangiectasia macularis eruptiva perstans, Edema OMIM:154800
Megabladder, Congenital
Hyperechogenic kidneys, Left ventricular noncompaction cardiomyopathy, Stage 5 chronic kidney dis... OMIM:618719
Mirizzi Syndrome
Cholelithiasis, Elevated circulating hepatic transaminase concentration, Dark urine, Hyperbilirub... ORPHA:521219
Distal Deletion 12Q
Micropenis, Ectopic kidney, Patent ductus arteriosus, Polycystic kidney dysplasia, Duodenal atres... ORPHA:96149
Beckwith-Wiedemann Syndrome
Nephropathy, Large placenta, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Visceromegaly, Abnorma... ORPHA:116
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Aortic Aneurysm, Familial Thoracic 9
Mitral valve prolapse, Aortic tortuosity, Ascending aortic dissection, Thoracic aortic aneurysm, ... OMIM:616166
Proximal 16P11.2 Microdeletion Syndrome
Gastroesophageal reflux, Abnormal heart morphology, Abnormal aortic valve morphology, Atrial sept... ORPHA:261197
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal hypoplasia, Umbilical hernia, Renal insufficiency, Cryptorchidism, Telangiectasia of the sk... ORPHA:85321
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Chronic kidney disease, High palate, Glomerulonephritis ORPHA:2172
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5... OMIM:617609
Bor Syndrome
Multicystic kidney dysplasia, Branchial cyst, Vesicoureteral reflux, Renal insufficiency, Uretero... ORPHA:107
Chromosome 15Q25 Deletion Syndrome
Polysplenia, Coronary artery fistula, Cryptorchidism, Macrocytic anemia, Ventricular septal defec... OMIM:614294
Ciliary Dyskinesia, Primary, 51
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:620438
Hemolytic Anemia, Congenital, X-Linked
Jaundice, Dark urine OMIM:301015
Perlman Syndrome
High, narrow palate, Abnormal pancreas morphology, Cryptorchidism, Nephroblastoma, Hepatomegaly, ... ORPHA:2849
Czeizel-Losonci Syndrome
Hypoplastic nipples, Tracheoesophageal fistula, Dextrocardia, High palate, Pulmonary hypoplasia ORPHA:2437
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur... OMIM:620536
Adams-Oliver Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Supernumerary nipple, Tetralogy of Fallot, Ventric... OMIM:100300
Sepsis In Premature Infants
Oliguria, Decreased liver function, Reversible renal failure, Splenomegaly, Petechiae, Decreased ... ORPHA:90051
Atelosteogenesis Type I
Rhizomelia, Neonatal short-trunk short stature, Multiple renal cysts, Malrotation of colon, Cleft... ORPHA:1190
Peroxisome Biogenesis Disorder 1B
Hepatic fibrosis, Hyperoxaluria, Renal cyst, Cirrhosis, Hepatomegaly OMIM:601539
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie... ORPHA:2704
Lymphoid Interstitial Pneumonia
Hepatomegaly, Weight loss, Enlarged kidney, Failure to thrive ORPHA:79128
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Hiatus ... OMIM:618164
Femoral-Facial Syndrome
Long penis, Cryptorchidism, Renal hypoplasia/aplasia, Short stature, Abnormal localization of kid... ORPHA:1988
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva... OMIM:615751
Craniosynostosis 1
Aortic valve stenosis, Systolic heart murmur OMIM:123100
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Cirrhosis, Familial
Increased level of L-fucose in urine, Biliary cirrhosis, Micronodular cirrhosis, Increased level ... OMIM:215600
Liver Disease, Severe Congenital
Portal inflammation, Dilatation of the ventricular cavity, Hyperbilirubinemia, Hepatic steatosis,... OMIM:619991
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Unconjugated hyperbilir... OMIM:210500
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Bifid uvula, Renal malrotation, Branchial fistula, Branchial cyst, Abn... OMIM:113650
Ciliary Dyskinesia, Primary, 9
Pneumonia, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:612444
Trisomy X
Multicystic kidney dysplasia, Ventricular septal defect, Atrial septal defect, Renal hypoplasia/a... ORPHA:3375
Uremic Pruritus
Chronic kidney disease, Renal hypophosphatemia, Hypermagnesemia, Elevated total serum tryptase, G... ORPHA:94059
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Transposition of the great arteries, Atrial septal defect, Pulmonic steno... OMIM:253800
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Arteria lusoria, Valvular p... OMIM:212093
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi... OMIM:619662
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Hereditary Fructose Intolerance
Chronic kidney disease, Hypermagnesemia, Reduced circulating aldolase concentration, Renal insuff... ORPHA:469
Familial Mediterranean Fever, Autosomal Dominant
Proteinuria, Peritonitis, Renal amyloidosis, Renal insufficiency OMIM:134610
Bartter Syndrome, Type 2, Antenatal
Nephrocalcinosis, Hyperchloriduria, Renal juxtaglomerular cell hypertrophy/hyperplasia, Small for... OMIM:241200
Floating-Harbor Syndrome
Hypospadias, Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Growth delay, Tetr... ORPHA:2044
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d... OMIM:614723
Giant Cell Arteritis
Vasculitis, Epistaxis, Hepatic failure, Mediastinal lymphadenopathy, Aortic dissection, Double ou... ORPHA:397
Mckusick-Kaufman Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Failure to thrive, Glandular hypospadias, T... ORPHA:2473
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Short stature, Jaundice, Macroglossia, Umbilical hernia ORPHA:2349
Malaria
Elevated circulating C-reactive protein concentration, Acute kidney injury, Hyperbilirubinemia ORPHA:673
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Venous insufficiency, Abnormality of the gas... ORPHA:33276
Wilson Disease
Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c... OMIM:277900
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections OMIM:618161
Aortic Aneurysm, Familial Thoracic 12
Spontaneous pneumothorax, Aortic root aneurysm, Bicuspid aortic valve, Ascending aortic dissectio... OMIM:619825
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal heart morphology, Periportal fibrosis, Polycystic kidney dysplasia OMIM:263210
Osteopathia Striata-Cranial Sclerosis Syndrome
High, narrow palate, Bifid uvula, Aortic valve stenosis, Submucous cleft hard palate, Coarctation... ORPHA:2780
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemia, Hepatomegaly, J... OMIM:603552
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:617156
Acquired Ichthyosis
Erythema, Renal insufficiency ORPHA:454
Gilbert Syndrome
Jaundice, Hepatic failure, Elevated circulating hepatic transaminase concentration, Unconjugated ... OMIM:143500
Cutis Laxa, Autosomal Recessive, Type Iic
Nephrocalcinosis, Bilateral cryptorchidism, Biventricular hypertrophy, Median cleft palate, Reduc... OMIM:617402
Pyruvate Dehydrogenase E1-Alpha Deficiency
Intrauterine growth retardation, Abnormal medullary pyramid morphology, Ventricular septal defect... ORPHA:79243
Hyperparathyroidism, Transient Neonatal
Unilateral renal agenesis, Hyperparathyroidism, Umbilical hernia, Splenic cyst, Ovarian cyst, Ele... OMIM:618188
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Failure to thrive, Splenomegaly, Cirrhosis, Short stature, Conjugated hyperbiliru... OMIM:211600
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Growth delay, Intrauterine growth retardation, Reduced renal corticomedullary differentiation, Sp... OMIM:618541
Geleophysic Dysplasia 2
Aortic valve stenosis, Mitral regurgitation, Mitral valve prolapse, Mitral stenosis, Pulmonary ar... OMIM:614185
Peutz-Jeghers Syndrome
Intestinal bleeding, Bladder polyp, Bile duct polyp, Abnormality of the ureter, Ovarian cyst, Bil... OMIM:175200
Glycogen Storage Disease Xii
Cholelithiasis, Increased circulating lactate dehydrogenase concentration, Hyperbilirubinemia, Ch... OMIM:611881
Ciliary Dyskinesia, Primary, 26
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections... OMIM:615500
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... ORPHA:1475
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria OMIM:613944
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperlipidemia, Incre... OMIM:235400
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E... ORPHA:84085
8P Inverted Duplication/Deletion Syndrome
High, narrow palate, Abnormal heart morphology, Tetralogy of Fallot, Cryptorchidism, Aplasia/Hypo... ORPHA:96092
Harrod Syndrome
Multicystic kidney dysplasia, Failure to thrive, Intrauterine growth retardation, Cryptorchidism,... ORPHA:2115
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Dilatation of the cerebral artery, Intestinal malrotation, Aortic ar... OMIM:613834
Bardet-Biedl Syndrome 6
Renal cyst, Obesity, Hypospadias OMIM:605231
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Renal insufficiency, Splenomegaly, Hematuria, Cardiomegaly, H... OMIM:603903
Gaucher Disease Type 1
Splenic infarction, Elevated circulating CCL18 level, Cholelithiasis, Hepatic failure, Growth del... ORPHA:77259
Scheie Syndrome
Aortic valve stenosis, Aortic regurgitation, Mitral stenosis OMIM:607016
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormality, Neoplas... ORPHA:90003
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Obesity, Vesicoureteral reflux, Hyperuricemia, Proteinuri... ORPHA:261222
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Jaundice, Hyperbilirubinemia, Splenomegaly OMIM:237800
Nabais Sa-De Vries Syndrome, Type 2
Hypoplastic left heart, Multicystic kidney dysplasia, Failure to thrive in infancy, Bilateral cle... OMIM:618829
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic valve stenosis, Aortic regurgitation, Aortic valve calcification OMIM:114065
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Elevated circulating aspartate aminotr... OMIM:280000
Hereditary Xanthinuria
Hypouricemia, Decreased urinary urate, Acute kidney injury, Sulfite oxidase deficiency, Recurrent... ORPHA:3467
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Chronic kidney disease, Failure to thrive, Cardiomyopathy, Intrauterine growth retardation, Renal... ORPHA:324525
Kleefstra Syndrome
Supernumerary nipple, Tetralogy of Fallot, Obesity, Vesicoureteral reflux, Renal insufficiency, C... ORPHA:261494
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Anteriorly placed anus, Ventricular septal defect, Aortic valve pro... OMIM:619980
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... OMIM:616818
Williams Syndrome
Cryptorchidism, Mitral valve prolapse, Polycystic ovaries, Ventricular septal defect, Bicuspid ao... ORPHA:904
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Intrauterine growth retardation, Cryptorchidism, Ventricular septal defect, Ren... ORPHA:166035
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Ig... OMIM:618348
Matthew-Wood Syndrome
Renal hypoplasia, Annular pancreas, Failure to thrive, Duodenal stenosis, Horseshoe kidney, Intra... ORPHA:2470
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Distal Triplication 15Q
Dilatation of the renal pelvis, Horseshoe kidney, Abnormal heart morphology, Intrauterine growth ... ORPHA:314588
Noonan Syndrome 12
Anteriorly placed anus, Tetralogy of Fallot, Decreased response to growth hormone stimulation tes... OMIM:618624
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Elevated circulating hepatic transaminase concentration, Ketonuria, Di... ORPHA:20
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, Stage 5 c... OMIM:614196
White Sponge Nevus 2
Edema OMIM:615785
Hadziselimovic Syndrome
Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect, Anal atresia, Atrial sep... OMIM:612946
Trisomy 13
High, narrow palate, Abnormality of the ureter, Intrauterine growth retardation, Cryptorchidism, ... ORPHA:3378
Autosomal Dominant Hypocalcemia
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hypermagnesiuria ORPHA:428
Pseudotrisomy 13 Syndrome
Median cleft palate, Complete atrioventricular canal defect, Cryptorchidism, Ventricular septal d... OMIM:264480
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ... OMIM:602347
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Bifid uvula, Nephrocalcinosis, Submucous cleft hard palate, Patent foramen ovale, Patent ductus a... OMIM:300990
Frasier Syndrome
Focal segmental glomerulosclerosis, Streak ovary, Renal insufficiency, Nephroblastoma, Proteinuri... ORPHA:347
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Cholestasis, Hepatosplenomegaly, Congenital hepatic fibrosis, Hepatomegaly, High palate, Renal dy... OMIM:266920
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Stage 5 chronic kidney d... OMIM:194080
Urofacial Syndrome 2
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... OMIM:615112
Pauci-Immune Glomerulonephritis
Acute kidney injury, Elevated circulating creatinine concentration, Decreased glomerular filtrati... ORPHA:93126
Martinez-Frias Syndrome
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Intrauterine growth retardation,... OMIM:601346
Down Syndrome
Duodenal stenosis, Tetralogy of Fallot, Atrioventricular canal defect, Protruding tongue, Complet... OMIM:190685
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Mitral valve prolapse, Ventricular septal defect, Polycystic ovaries, Bic... ORPHA:371428
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Recurrent sinusitis OMIM:620197
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Renal insufficiency, Seve... ORPHA:440713
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent urinary tract infections, Elevated circulating aspartate aminotransferase concentration... OMIM:615559
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Bruising s... ORPHA:905
Mucopolysaccharidosis, Type X
Aortic valve stenosis, Aortic regurgitation, Thickened aortic valve cusp, Left ventricular hypert... OMIM:619698
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Jaundice,... OMIM:618549
Williams-Beuren Syndrome
Premature graying of hair, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valv... OMIM:194050
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis OMIM:616481
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Elevated circulating alkaline phosphat... OMIM:601847
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch... OMIM:617731
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Intrauterine growth retardation, Cry... ORPHA:73246
Reni Syndrome
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Stage ... OMIM:617575
D-Bifunctional Protein Deficiency
Elevated circulating hepatic transaminase concentration, Increased circulating very long-chain fa... OMIM:261515
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Nephrocalcinosis, Cortical nephrocalcinosis, Failure to thrive in infanc... ORPHA:51608
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Stage 4 chronic kidney disease, Increased phosphoribosylpyrophosphate synthe... ORPHA:411536
Ciliary Dyskinesia, Primary, 10
Situs inversus totalis, Recurrent sinusitis OMIM:612518
Birk-Landau-Perez Syndrome
Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Failure to thrive in in... OMIM:617595
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis OMIM:612650
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Fructose Intolerance, Hereditary
Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Elevated circulating hepatic transamin... OMIM:229600
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Ketonuria, Methylmalonic aciduria, Failure to thrive, Elevated circulatin... ORPHA:79282
Pseudo-Torch Syndrome 2
Elevated circulating hepatic transaminase concentration, Secundum atrial septal defect, Petechiae... OMIM:617397
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Hamartoma of tongue, Intestinal malrotation, Bifid tongue, Short stature, Microp... OMIM:613091
H Syndrome
Decreased testicular size, Hepatosplenomegaly, Azoospermia, Facial telangiectasia, Delayed pubert... ORPHA:168569
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Renal cyst, Meningocele, Growth delay, Cleft palate OMIM:614424
Alkaptonuria
Aortic valve stenosis, Aortic valve calcification, Atherosclerosis, Abnormal heart valve morpholo... ORPHA:56
Diets-Jongmans Syndrome
Cryptorchidism, Heterotaxy, Ventricular septal defect, Interrupted inferior vena cava with azygou... OMIM:618846
Joubert Syndrome 3
Stage 5 chronic kidney disease, Atrial septal defect, Nephronophthisis OMIM:608629
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Failure to thrive, Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicouret... OMIM:191800
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure OMIM:192600
Congenital Tracheal Stenosis
Hypoplastic left heart, Abnormal lung morphology, Meckel diverticulum, Duodenal atresia, Duodenal... ORPHA:141127
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Aortic valve stenosis, Chylothorax, Juvenile myelomonocytic leukemia, Hepatosplenomegaly, Mitral ... OMIM:613563
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:614650
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
3-Methylglutaconic Aciduria, Type Iv
Biventricular hypertrophy, Subvalvular aortic stenosis, Cryptorchidism OMIM:250951
Anti-Glomerular Basement Membrane Disease
Renal insufficiency, Proteinuria, Hematuria, Glomerulopathy, Purpura ORPHA:375
Hyperprolinemia Type 2
Increased urine alpha-ketoglutarate concentration, Prolinuria, Hydroxyprolinuria, Abnormal circul... ORPHA:79101
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Small for gestational age, Postnatal growth retardation, Intrauteri... OMIM:257300
Congenital Rubella Syndrome
Intrauterine growth retardation, Splenomegaly, Ventricular septal defect, Atrial septal defect, H... ORPHA:290
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Hypoplastic left heart, Intestinal malrotation, Abnormal aortic morphology, Bilateral cleft palat... ORPHA:2001
Singleton-Merten Syndrome 2
Aortic valve stenosis, Arrhythmia, Aortic valve calcification OMIM:616298
Hajdu-Cheney Syndrome
Aortic valve stenosis, Intestinal malrotation, Mitral stenosis, Splenomegaly, Ventricular septal ... ORPHA:955
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Microglossia, Renal insufficiency, Cryptorchidism, Proteinuria, Short stature, ... ORPHA:1307
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur... OMIM:161950
Alg3-Cdg
Cardiomyopathy, Abnormality of the gastrointestinal tract, Coarctation of the descending aortic a... ORPHA:79321
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Narrow palate, Patent duc... OMIM:277600
Nephrotic Syndrome, Type 8
Chronic kidney disease, Hypoalbuminemia, Thin glomerular basement membrane, Stage 5 chronic kidne... OMIM:615244
Lysosomal Acid Lipase Deficiency
Hepatosplenomegaly, Hypersplenism, Elevated circulating alkaline phosphatase concentration, Fatal... ORPHA:275761
Robinow Syndrome, Autosomal Recessive 1
Nephrocalcinosis, Microglossia, Umbilical hernia, Abnormal heart morphology, Cryptorchidism, Rena... OMIM:268310
Methimazole Embryofetopathy
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta, Tracheoesophageal fi... ORPHA:1923
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome... OMIM:618594
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Cyanosis OMIM:613977
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Failure to thrive, Cardiomyopathy, Stage 5 chronic kidney disease, Hyperg... OMIM:251000
Carpenter Syndrome 2
High, narrow palate, Supernumerary nipple, Tricuspid regurgitation, Bilateral cryptorchidism, Sit... OMIM:614976
Enamel-Renal Syndrome
Nephropathy, Nephrocalcinosis, Hypocalciuria, Hypophosphaturia, Renal insufficiency, Impaired ren... ORPHA:1031
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Multicentric Carpotarsal Osteolysis Syndrome
Proteinuria, Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency OMIM:166300
Msh3-Related Attenuated Familial Adenomatous Polyposis
Stomach cancer, Juvenile gastrointestinal polyposis, Multiple gastric polyps, Renal cyst, Neoplas... ORPHA:480536
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly, Hepatomegaly, Jaundice, Steat... OMIM:612714
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Ventricular septal defect, Bicuspid aortic valve, Double outlet right ventr... OMIM:616652
Maternal Phenylketonuria
Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Ventricular septal defect... ORPHA:2209
Syndromic Diarrhea
Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Cirrhosis, Colitis, Atrial sept... ORPHA:84064
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Parathyroid hypoplasia, Abnormal heart morphology, Vesicoureteral refl... ORPHA:2237
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal hypoplasia, Growth delay, Renal agenesis, Hyperechogenic kidneys... OMIM:617641
Joubert Syndrome 2
Nephronophthisis, Failure to thrive, Renal insufficiency, Encephalocele, Renal cyst, High palate OMIM:608091
Simple Cryoglobulinemia
Nephritis, Cold urticaria, Vascular skin abnormality, Abnormal heart morphology, Renal insufficie... ORPHA:91139
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent r... OMIM:608647
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Intermittent jaundice, Pancreatitis, Intrahepatic choles... OMIM:243300
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Abnormality of the spleen, Esophagitis, Perineal fistula, Renal hyp... ORPHA:2538
Hepatoportal Sclerosis
Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circula... ORPHA:64743
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Supernumerary nipple, Umbilical hernia, Obesity, Nephroblastoma, Sh... ORPHA:1001
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline
Urinary incontinence, Prolonged neonatal jaundice OMIM:618868
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Increased circulating ferritin concentration, Splenomegaly, Hepatomega... OMIM:194380
Distal Duplication 5Q
Aplasia/Hypoplasia of the gallbladder, Cryptorchidism, Dextrocardia, Ventricular septal defect ORPHA:96097
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Macroglossia, Abnormal heart morphology, Heparan sulfate excretion in urine, Hep... ORPHA:505248
Ciliary Dyskinesia, Primary, 15
Recurrent pneumonia, Situs inversus totalis, Chronic bronchitis, Recurrent respiratory infections... OMIM:613808
Peroxisome Biogenesis Disorder 7A (Zellweger)
Elevated circulating hexacosanoic acid concentration, Elevated circulating tetracosanoic acid con... OMIM:614872
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal lung lobation, Atrioventricular canal defect, Abnormal aortic valve morphology, Bicuspid... ORPHA:1120
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,... OMIM:610725
Mucolipidosis Iii Gamma
Aortic valve stenosis, Aortic regurgitation OMIM:252605
Lymphedema-Hypoparathyroidism Syndrome
Nephropathy, Renal insufficiency, Hypoparathyroidism, Mitral valve prolapse, Short stature OMIM:247410
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Pulmonary artery dilatation, Tricuspid regurgitation, Palpitations, Bicuspi... OMIM:620067
Ciliary Dyskinesia, Primary, 19
Situs inversus totalis, Recurrent sinusitis, Chronic bronchitis, Recurrent respiratory infections... OMIM:614935
Alport Syndrome
Focal segmental glomerulosclerosis, Nephritis, Thickened glomerular basement membrane, Glomerular... ORPHA:63
Dahlberg-Borer-Newcomer Syndrome
Nephropathy, Renal insufficiency, Hypoparathyroidism, Hypocalcemia, Mitral valve prolapse, Short ... ORPHA:1563
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Nephropathy, Obesity, Streak ovary, Renal insufficiency, Cryptorchidism, Nephroblastoma, Hypospadias OMIM:194072
Hypocomplementemic Urticarial Vasculitis
Angioedema, Abnormal heart valve morphology, Renal insufficiency, Splenomegaly, Hematuria, Protei... ORPHA:36412
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Pulmonic steno... OMIM:618223
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Myelopathy, Failure to thrive, Umbilical hernia, Hypertrophi... OMIM:252500
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, T... ORPHA:231160
Lesch-Nyhan Syndrome
Hematuria, Renal insufficiency, Hyperuricemia ORPHA:510
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, High, narrow palate, Aortic root aneurysm, Mucoid extracellul... ORPHA:91387
Fryns Syndrome
Abnormal aortic arch morphology, Gastroesophageal reflux, Tetralogy of Fallot, Intestinal malrota... ORPHA:2059
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Ventricular septal defect, Atr... OMIM:220500
Bile Acid Conjugation Defect 1
Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat... OMIM:619232
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Decreased circulating iron concentration, Acute kidney injury, Increased ... ORPHA:447
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa... ORPHA:79302
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Drug Reaction With Eosinophilia And Systemic Symptoms
Erythema, Elevated circulating hepatic transaminase concentration, Hepatitis, Angioedema, Acute h... ORPHA:139402
Diamond-Blackfan Anemia 6
Bifid uvula, Ventricular hypertrophy, Increased mean corpuscular volume, Persistence of hemoglobi... OMIM:612561
Codas Syndrome
Short stature, Hydroureter, Extrahepatic biliary duct atresia, Ventricular septal defect ORPHA:1458
Marden-Walker Syndrome
Bifid uvula, Situs inversus totalis, Submucous cleft hard palate, Ventricular septal defect, Abno... ORPHA:2461
Lassa Fever
Jaundice, Oliguria ORPHA:99824
Griscelli Syndrome
Hepatitis, Abnormal circulating lipid concentration, Premature graying of hair, Encephalocele, Sp... ORPHA:381
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Aortic regurgitation, Gastroesophageal reflux, Duodenal atresia, Breast hy... ORPHA:464306
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... ORPHA:26793
Caudal Regression Syndrome
Renal agenesis, Abnormality of the ureter, Renal insufficiency, Vesicoureteral reflux, Cryptorchi... ORPHA:3027
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:214950
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Spider hemangioma, Decre... OMIM:232240
Inflammatory Skin And Bowel Disease, Neonatal, 2
Coarctation of aorta, Recurrent pneumonia, Recurrent bronchiolitis OMIM:616069
Knobloch Syndrome
Lymphangioma, Patent ductus arteriosus, Dextrocardia, Pyloric stenosis ORPHA:1571
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Situs inversus totalis, Bronchiectasis OMIM:615434
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie... ORPHA:79233
Sarcoidosis
Nephrocalcinosis, Hepatic failure, Decreased liver function, Parotitis, Renal insufficiency, Port... ORPHA:797
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Congenital Disorder Of Glycosylation, Type Iig
Rhizomelia, Failure to thrive in infancy, Postnatal growth retardation, Intrauterine growth retar... OMIM:611209
Odontochondrodysplasia 1
Short stature, Mesomelic short stature, Nephronophthisis, Polycystic kidney dysplasia OMIM:184260
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Hyperuricemia,... OMIM:162000
Glycogen Storage Disease Xi
Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas... OMIM:612933
Alg9-Cdg
Bifid uvula, Periportal fibrosis, Hypoplasia of the bladder, Rhizomelia, Right ventricular dilata... ORPHA:79328
Intrahepatic Cholestasis Of Pregnancy
Elevated circulating hepatic transaminase concentration, Abnormal pineal melatonin secretion, Hyp... ORPHA:69665
Joubert Syndrome 9
Hepatic fibrosis, Stage 5 chronic kidney disease, Encephalocele OMIM:612285
Proteus Syndrome
Lymphangioma, Venous malformation, Splenomegaly OMIM:176920
Porphyria Cutanea Tarda
Portal inflammation, Poor wound healing, Hepatic steatosis, Decreased circulating hepcidin concen... ORPHA:101330
Pallister-Hall Syndrome
Cryptorchidism, Neonatal death, Ventricular septal defect, Micropenis, Anal atresia, Ectopic kidn... OMIM:146510
Arthrogryposis Multiplex Congenita 5
Premature skin wrinkling, Umbilical hernia, Intrauterine growth retardation, Medullary nephrocalc... OMIM:618947
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Elevated circulating hepatic transaminase concentration, Urinary retention, Failure to thrive in ... ORPHA:79124
Trisomy 1Q
Multicystic kidney dysplasia, Cryptorchidism, Ventricular septal defect, Hydronephrosis, Anal atr... ORPHA:261344
Floating-Harbor Syndrome
Nephrocalcinosis, Umbilical hernia, Glandular hypospadias, Cryptorchidism, Mesocardia, Hydronephr... OMIM:136140
Familial Adenomatous Polyposis 4
Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Renal cyst, Adenomatous colonic polyposis OMIM:617100
Nephrotic Syndrome, Type 22
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... OMIM:619155
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati... OMIM:220150
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Renal insufficiency, Hyperuricemia ORPHA:3222
Liddle Syndrome
Nephropathy, Renal insufficiency, Hypokalemia ORPHA:526
Nephrotic Syndrome, Type 12
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616892
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Fryns Syndrome
Hypospadias, Meckel diverticulum, Renal agenesis, Polysplenia, Intestinal malrotation, Large for ... OMIM:229850
Congenital Syphilis
Hepatosplenomegaly, Large placenta, Intrauterine growth retardation, Petechiae, Pancreatitis, Myo... ORPHA:499009
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Splenomegaly, Intermittent jaundice OMIM:179700
Von Hippel-Lindau Syndrome
Pheochromocytoma, Multiple renal cysts, Renal cell carcinoma, Hepatic hemangioma, Pancreatic cyst... OMIM:193300
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Aortic regurgitation, Gastroesophageal reflux, Duodenal atresia, Cryptorch... ORPHA:464311
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Pneumonia, Gastroesophageal reflux, Recurrent respiratory infections, Inte... ORPHA:353281
Gcgr-Related Hyperglucagonemia
Cholelithiasis, Neoplasm of the pancreas, Abnormal biliary tract morphology ORPHA:438274
Microscopic Polyangiitis
Erythema, Oliguria, Subcutaneous hemorrhage, Cutis marmorata, Renal insufficiency, Hematuria, Per... ORPHA:727
Classic Galactosemia
Hepatic failure, Elevated circulating hepatic transaminase concentration, Abnormal circulating en... ORPHA:79239
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Supernumerary nipple, Cryptorchidism, Ventricular septal defect... OMIM:312870
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Macroglossia, Neonatal hyperbilirubinemia, Umbilical hernia ORPHA:95717
Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Pulmonary hypoplasia, Abnormal heart valve morphology, Prominent scalp vei... ORPHA:536471
Okamoto Syndrome
Aortic valve stenosis, Anal stenosis, Gastroesophageal reflux, Exaggerated median tongue furrow, ... ORPHA:2729
Ogden Syndrome
Facial wrinkling, Postnatal growth retardation, Hyperbilirubinemia, Cryptorchidism, Ventricular s... OMIM:300855
Cranioectodermal Dysplasia 2
Cholestasis, Hyperbilirubinemia, Ectodermal dysplasia, Atrial septal defect, Hepatomegaly, High p... OMIM:613610
Glucose-Galactose Malabsorption
Failure to thrive, Renal insufficiency, Nephrolithiasis, Hematuria, Weight loss, Hypercalcemia, H... ORPHA:35710
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Acute kidney injury, Increased phosphoribosylpyrophosphate synthetase level, Renal insufficiency,... ORPHA:411543
Joubert Syndrome 1
Nephropathy, Hepatic fibrosis, Occipital myelomeningocele, Protruding tongue, Renal cyst, Macrogl... OMIM:213300
Senior-Loken Syndrome 1
Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ... OMIM:266900
Meckel Syndrome
Accessory spleen, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the tongue, Pancreatic cyst... ORPHA:564
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Renal hypoplasia, Hepatic failure, Secundum atrial septal defect, Umbilical hernia, Cutis marmora... OMIM:619758
Muckle-Wells Syndrome
Short stature, Renal amyloidosis, Renal insufficiency, Elevated circulating C-reactive protein co... OMIM:191900
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Rhizomelia, Hamartoma of tongue, Encephalocele, Cryptorchidism, Renal cyst, Sti... OMIM:616300
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Cardiomegaly, Cardiac myxoma, Jaundice ORPHA:615
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Bilateral cryptorchidism, Intrauterine growth retardation, St... OMIM:242900
Phosphoribosylpyrophosphate Synthetase Superactivity
Increased phosphoribosylpyrophosphate synthetase level, Urolithiasis, Renal insufficiency, Crypto... OMIM:300661
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Recurrent respiratory infections, Coarctation of aorta, Cleft palate, Ventricular septal defect OMIM:620210
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Mitral regurgitation, Cryptorchidism, Neutropenia, Hepatomegaly,... OMIM:612541
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal dysplasia, Decreased response to growth hormone stimulation test, Mitral stenosis, Renal cy... OMIM:617260
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Microphallus, Umbilical hernia, Supernumerary nipple, Vesicoureteral reflux, Cr... OMIM:618454
Genetic Recurrent Myoglobinuria
Acute kidney injury, Oliguria, Elevated circulating hepatic transaminase concentration, Hyperphos... ORPHA:99845
Phaver Syndrome
Pulmonary artery atresia, Hypoplastic aortic arch, Coarctation of aorta, Ventricular septal defect ORPHA:2876
Tetrasomy 9P
Absent gallbladder, Cryptorchidism, Abnormal mitral valve morphology, Oligozoospermia, Dextrocard... ORPHA:3310
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Macroglossia, Multicystic kidney dysplasia, Abnormal right ventricle morphology, Bifid ureter, La... ORPHA:500095
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Congestive heart failure, Mitral regurgitation, Ventricular septal defect,... OMIM:608328
Lcat Deficiency
Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ... ORPHA:650
Mitchell-Riley Syndrome
Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, Cholestasis... OMIM:615710
Fanconi Renotubular Syndrome 3
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... OMIM:615605
Eosinophilic Granulomatosis With Polyangiitis
Hypertrophic cardiomyopathy, Abnormal pericardium morphology, Cutis marmorata, Renal insufficienc... ORPHA:183
Fetal Encasement Syndrome
Tetralogy of Fallot, Bilateral trilobed lung OMIM:613630
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Growth delay,... ORPHA:1830
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Elevated circulating h... OMIM:614527
X-Linked Intellectual Disability, Nascimento Type
Peripheral pulmonary artery stenosis, Recurrent respiratory infections, Tetralogy of Fallot, Mitr... ORPHA:163956
Kawasaki Disease
Vasculitis, Strawberry tongue, Hepatitis, Double outlet right ventricle with subpulmonary ventric... ORPHA:2331
Galloway-Mowat Syndrome 4
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome... OMIM:617730
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration OMIM:261670
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Prolonged neonatal jaundice, Abnormal circulating thyroglobulin concentration, Conjugated hyperbi... ORPHA:95715
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Reduced level of N-acetylglucosaminyltransferase II, Splenomegaly OMIM:224100
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Homocystinuria, Acute kidney injury, Cystathioninemia, Methylmalonic aciduria, Cysta... OMIM:277400
Feingold Syndrome Type 1
Nephritis, Tricuspid stenosis, Duodenal atresia, Horseshoe kidney, Abnormal heart morphology, Mul... ORPHA:391641
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Failure to thrive, Elevated circulating aspartate aminotransferase concentration... OMIM:617049
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Microcolon, Hydroureter, Megacystis, Umbilical hernia, Intestinal m... ORPHA:2241
Autoimmune Hemolytic Anemia, Warm Type
Jaundice, Splenomegaly, Abnormal urinary color ORPHA:90033
Primary Hepatic Neuroendocrine Carcinoma
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... ORPHA:100085
Porphyria Variegata
Chronic kidney disease, Elevated circulating hepatic transaminase concentration, Abnormality of t... ORPHA:79473
Agnathia-Otocephaly Complex
Microglossia, Secundum atrial septal defect, Aglossia, Situs inversus totalis, Cleft palate, Pulm... OMIM:202650
Myh9-Related Disease
Nephropathy, Nephritis, Elevated circulating hepatic transaminase concentration, Bruising suscept... ORPHA:182050
Fanconi Renotubular Syndrome 1
Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur... OMIM:134600
Heme Oxygenase 1 Deficiency
Epistaxis, Diffuse alveolar hemorrhage, Cervical lymphadenopathy, Elevated circulating aspartate ... OMIM:614034
Chime Syndrome
Acute leukemia, Tetralogy of Fallot, Ventricular septal defect, Pulmonary valve atresia, Transpos... ORPHA:3474
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Cleft palate, Dextrocardia ORPHA:220493
Retinitis Pigmentosa 89
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, ... OMIM:618955
Budd-Chiari Syndrome
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Portal hypertensi... ORPHA:131
Short-Rib Thoracic Dysplasia 12
Periportal fibrosis, Renal hypoplasia, Hamartoma of tongue, Intestinal malrotation, Intrauterine ... OMIM:269860
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Tetralogy of Fallot, Anal atresia, Cryptorchidism ORPHA:1381
Cranioectodermal Dysplasia 3
Rhizomelia, Nephronophthisis, Stage 5 chronic kidney disease, Cirrhosis, Ectodermal dysplasia, Sh... OMIM:614099
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Furrowed tongue, Intrauterine growth retardation, Vesicoureteral reflux, Crypto... OMIM:616975
Cholestasis, Benign Recurrent Intrahepatic, 2
Intrahepatic cholestasis, Cholelithiasis, Elevated circulating alkaline phosphatase concentration... OMIM:605479
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic tran... OMIM:619525
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Obesity, Biliary tract abnormality, Membranous subvalvu... ORPHA:3191
Stevens-Johnson Syndrome
Erythema, Elevated circulating hepatic transaminase concentration, Abnormality of the urethra, Ac... ORPHA:36426
Gracile Bone Dysplasia
Ankyloglossia, Asplenia, Hypoplastic spleen OMIM:602361
Anemia, Congenital Dyserythropoietic, Type Ib
Growth delay, Splenomegaly, Hepatomegaly, Jaundice, Short stature OMIM:615631
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Unconjugated hyperbilirubinemia, Splenomegaly, Prolonged neonatal jaundice, Decreased glucose-6-p... OMIM:300908
Orofaciodigital Syndrome I
Hepatic fibrosis, Myelomeningocele, Ankyloglossia, Hamartoma of tongue, Abnormal heart morphology... OMIM:311200
Toxic Epidermal Necrolysis
Erythema, Elevated circulating hepatic transaminase concentration, Abnormality of the urethra, Ac... ORPHA:537
Sifrim-Hitz-Weiss Syndrome
Bifid uvula, Anteriorly placed anus, Tetralogy of Fallot, Vesicoureteral reflux, Renal insufficie... OMIM:617159
Cholestasis, Intrahepatic, Of Pregnancy, 1
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Increased seru... OMIM:147480
Allan-Herndon-Dudley Syndrome
Decreased body mass index, Failure to thrive in infancy, Cryptorchidism, Prolonged neonatal jaund... ORPHA:59
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Premature graying of hair, Intrauterine growth reta... ORPHA:1297
Hyperbiliverdinemia
Cholelithiasis, Green urine, Decreased liver function, Cholestasis, Elevated circulating biliverd... OMIM:614156
Maternal Uniparental Disomy Of Chromosome 2
Elevated amniotic fluid alpha-fetoprotein, Bilateral cryptorchidism, Decreased response to growth... ORPHA:96179
Restrictive Dermopathy
Microcolon, Pulmonary hypoplasia, Submucous cleft hard palate, Aplasia/Hypoplastia of the eccrine... ORPHA:1662
Zollinger-Ellison Syndrome
Hyperparathyroidism, Peptic ulcer, Erythema, Pituitary adenoma, Pituitary prolactin cell adenoma,... ORPHA:913
Familial Idiopathic Dilatation Of The Right Atrium
Holosystolic murmur, Arrhythmia, Hepatomegaly, Right atrial enlargement, Abnormal jugular vein mo... ORPHA:1677
Nephrogenic Diabetes Insipidus
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Failure to thrive, Renal i... ORPHA:223
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Aciduria, Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular ... OMIM:203700
Proteinuria, Chronic Benign
Proteinuria, Albuminuria, Renal insufficiency OMIM:618884
Anauxetic Dysplasia 1
Aortic valve stenosis, Macroglossia OMIM:607095
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Aortic aneurysm, Atrial septal ... ORPHA:96121
16P12.1P12.3 Triplication Syndrome
High, narrow palate, Failure to thrive, Bilateral cryptorchidism, Decreased response to growth ho... ORPHA:485405
Microphthalmia, Syndromic 2
Aortic valve stenosis, Bifid uvula, Cryptorchidism, Submucous cleft hard palate, Ventricular sept... OMIM:300166
Frasier Syndrome
Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Stage 5 chronic kidney disease, Prote... OMIM:136680
Niemann-Pick Disease, Type A
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, H... OMIM:257200
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Failure to thrive, Increased circulating ferritin concentration, Increased total... OMIM:267700
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Aortic valve stenosis, Macroglossia, High palate, Bicuspid aortic valve OMIM:614501
Severe Generalized Junctional Epidermolysis Bullosa
Multicystic kidney dysplasia, Dilated cardiomyopathy, Hydroureter, Urinary retention, Ureterocele... ORPHA:79404
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas... ORPHA:2364
Crigler-Najjar Syndrome
Jaundice, Abnormality of the liver ORPHA:205
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Chronic kidney disease, Facial telangiectasia in butterfly midface distribution, Renal insufficie... OMIM:137940
Timothy Syndrome
Pneumonia, Atrioventricular block, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventric... OMIM:601005
Feingold Syndrome 1
Interrupted aortic arch, Accessory spleen, Tricuspid stenosis, Annular pancreas, Polysplenia, Jej... OMIM:164280
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Gastroesophageal reflux, Secundum atrial septal defect, Ventricular septal defect, Coarctation of... OMIM:600987
Cornelia De Lange Syndrome 1
High, narrow palate, Renal hypoplasia, Intrauterine growth retardation, Reduced renal corticomedu... OMIM:122470
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Hepatic fibrosis, Microglossia, Hamartoma of tongue, Intestinal malrotation, Ventricular septal d... OMIM:263520
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Tetralogy of Fallot, Abnormal heart morphology, Ventricu... ORPHA:261183
Atypical Werner Syndrome
Aortic valve stenosis, Aortic valve calcification, Abnormal cerebral vascular morphology, Congest... ORPHA:79474
Yellow Fever
Acute kidney injury, Pancreatic hyperplasia, Anuria, Elevated circulating aspartate aminotransfer... ORPHA:99829
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Failure to thrive, Decreased glomerular filtration rate, Reduce... OMIM:602522
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Overriding aorta, Arteriovenous malformation ORPHA:1110
Tuberous Sclerosis Complex
Chronic kidney disease, Pituitary adenoma, Generalized abnormality of skin, Pheochromocytoma, Sta... ORPHA:805
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra... OMIM:616860
Shigellosis
Acute kidney injury, Hepatic failure, Ulcerative colitis, Urethritis, Cholestasis, Failure to thr... ORPHA:810
Osteopetrosis, Autosomal Recessive 9
Hyperparathyroidism, Stage 3 chronic kidney disease, Elevated circulating creatinine concentratio... OMIM:620366
Neonatal Alloimmune Neutropenia
Jaundice ORPHA:464370
Rubinstein-Taybi Syndrome 1
High, narrow palate, Narrow palate, Recurrent upper respiratory tract infections, Gastroesophagea... OMIM:180849
Cholestasis, Intrahepatic, Of Pregnancy 3
Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice, Increased ser... OMIM:614972
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Narrow palate, Nephrocalcinosis, Abnormality o... ORPHA:79500
Neurooculorenal Syndrome
Ectopic posterior pituitary, Anteriorly placed anus, Intestinal malrotation, Tetralogy of Fallot ... OMIM:620305
Bardet-Biedl Syndrome 1
High, narrow palate, Hepatic fibrosis, Abnormality of the ovary, Decreased testicular size, Obesi... OMIM:209900
Sotos Syndrome
High, narrow palate, Narrow palate, Muscular ventricular septal defect, Cryptorchidism, Ventricul... OMIM:117550
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Coronary artery atheroscle... OMIM:617168
Trisomy 20P
Umbilical hernia, Abnormality of the ureter, Cryptorchidism, Hydronephrosis, Ectopic anus, Multip... ORPHA:261318
Viss Syndrome
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Cleft soft palate, Mitra... OMIM:619472
Encephalocraniocutaneous Lipomatosis
Interrupted aortic arch, Aortic valve stenosis, Abnormal aortic morphology, Tricuspid valve prola... ORPHA:2396
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Macroglossia, Failure to thrive, Hypopituitarism, Severe postnatal growth retardation, Anterior p... OMIM:613038
Meckel Syndrome 14
Hepatic fibrosis, Occipital encephalocele, Cyanosis, Single ventricle, Polycystic kidney dysplasia OMIM:619879
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hepatic steatosis, Cryptorchidism, Ventricula... OMIM:619503
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Failure to thrive, Renal insufficiency, Hyperalaninemia, Increased serum pyruvate, Growth delay, ... OMIM:619147
Familial Visceral Myopathy
Hyperparathyroidism, Aganglionic megacolon, Abdominal situs inversus, Cleft palate ORPHA:2604
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g... OMIM:613388
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cyanosis, Cardiomegaly, I... OMIM:261740
Endocrine-Cerebroosteodysplasia
Microphallus, Hyperechogenic kidneys, Median cleft palate, Cryptorchidism, Hypospadias, Enlarged ... OMIM:612651
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Hypophosphatemia, Aminoaciduria, A... ORPHA:411634
Pagod Syndrome
Hypoplastic left heart, Multicystic kidney dysplasia, Abnormality of the spleen, Situs inversus t... ORPHA:991
Griscelli Syndrome Type 2
Premature graying of hair, Hyperlipidemia, Splenomegaly, Petechiae, Hepatomegaly, Jaundice ORPHA:79477
Tetrasomy 15Q26
Hypoplastic aortic arch, Patent ductus arteriosus, Atrial septal defect, High palate OMIM:614846
Teebi-Shaltout Syndrome
High, narrow palate, Aortic valve stenosis, Cleft palate, Ventricular septal defect OMIM:272950
Joubert Syndrome 39
Hypoplastic left heart, Overweight, Polycystic kidney dysplasia, Occipital encephalocele OMIM:619562
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Goiter, Umbilical hernia, Large for gestational age, Prolonged neonatal jaundice, Macroglossia ORPHA:226313
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Infantile Liver Failure Syndrome 2
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Acute hepatic failure, H... OMIM:616483
Microsporidiosis
Nephritis, Hepatitis, Abnormality of the parathyroid gland, Urethritis, Abnormality of the spleen... ORPHA:2552
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Elevated urinary dopamine level, Increased blood u... ORPHA:230
Aminopterin/Methotrexate Embryofetopathy
Tetralogy of Fallot, Situs inversus totalis, Ventricular septal defect, Pulmonary artery atresia,... ORPHA:1908
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Unconjugated hyperbilirubinemia, Reduced red cell pyruvate kinase level, Intraute... OMIM:266200
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Telangiectasia of the skin, Ovarian serous cystadenoma, Hydrocele testis, Enlarge... ORPHA:276280
Feingold Syndrome
Annular pancreas, Duodenal atresia, Abnormality of the spleen, Esophageal atresia, Patent ductus ... ORPHA:1305
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:301050
Mhc Class Ii Deficiency 1
Failure to thrive, Recurrent urinary tract infections, Villous atrophy, Biliary tract abnormality... OMIM:209920
Von Hippel-Lindau Disease
Cardiomyopathy, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Multiple ren... ORPHA:892
Familial Thyroid Dyshormonogenesis
Neonatal hyperbilirubinemia, Goiter, Umbilical hernia, Abnormal circulating thyroglobulin concent... ORPHA:95716
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Elevated circulating hepatic transaminase concentrat... ORPHA:284426
Porphyria, Congenital Erythropoietic
Cholelithiasis, Elevated circulating uroporphyrin concentration, Reduced erythrocyte uroporphyrin... OMIM:263700
Scrub Typhus
Myocarditis, Renal insufficiency, Splenomegaly ORPHA:83317
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity, Rhizomelia, Stage 1 chronic kidney disease, Patent foramen ovale OMIM:618821
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Aortic regurgitation, Gastroesophageal reflux, Abnormal heart morphology, ... ORPHA:268261
Amyloidosis, Finnish Type
Cardiomyopathy, Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic synd... OMIM:105120
Genitopatellar Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Hydronephrosis, Atrial septal defect, Short stature ORPHA:85201
Myhre Syndrome
Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Coarctation of aorta, Atrial se... OMIM:139210
Snakebite Envenomation
Erythema, Acute kidney injury, Angioedema, Hypopituitarism, Ecchymosis, Hyponatremia ORPHA:449285
Hajdu-Cheney Syndrome
Failure to thrive, Umbilical hernia, Intestinal malrotation, Cryptorchidism, Ventricular septal d... OMIM:102500
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Increased circulating ferritin concentration, Reduced r... ORPHA:766
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Pneumonia, Gastroesophageal reflux, Recurrent respiratory infections, Inte... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Pneumonia, Gastroesophageal reflux, Recurrent respiratory infections, Inte... ORPHA:353277
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... ORPHA:411709
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Horseshoe kidney, Renal cyst, Short stature, Ventricular septal defect OMIM:250410
Dominant Beta-Thalassemia
Hepatic fibrosis, Abnormality of iron homeostasis, Dilated cardiomyopathy, Hypopituitarism, Failu... ORPHA:231226
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Elevated gamma-glutamyltransferase level, Hepatic failure, Growth delay, Micronodular cirrhosis, ... OMIM:256810
Distal Deletion 15Q
Hypoplastic left heart, Multicystic kidney dysplasia, Small for gestational age, Growth delay, Fa... ORPHA:1596
Bardet-Biedl Syndrome 9
Obesity, Renal insufficiency, Truncal obesity OMIM:615986
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Intestinal malrotation, Di... ORPHA:2973
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short stature, Stage 5 chronic kidney disease, Hepatic cysts OMIM:613819
Alstrom Syndrome
Nephritis, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Decre... OMIM:203800
1P36 Deletion Syndrome
Abnormality of the spleen, Hepatic steatosis, Cryptorchidism, Abnormal intestine morphology, Tela... ORPHA:1606
Pentalogy Of Cantrell
Polysplenia, Tetralogy of Fallot, Abnormal pericardium morphology, Absent gallbladder, Ventricula... ORPHA:1335
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho... OMIM:607626
Distal Deletion 10Q
Acute kidney injury, Functional abnormality of the bladder, Failure to thrive, Horseshoe kidney, ... ORPHA:96148
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
Hamartoma of tongue, Subvalvular aortic stenosis, Patent ductus arteriosus, Cryptorchidism ORPHA:1338
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Failure to thrive, Intrauterine growth retardation, Vesicoureteral reflux, Pate... OMIM:618460
Leiomyomatosis, Diffuse, With Alport Syndrome
Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Fa... OMIM:308940
Pediatric-Onset Graves Disease
Elevated circulating hepatic transaminase concentration, Failure to thrive, Goiter, Intrauterine ... ORPHA:525731
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Intrauterine growth retardati... ORPHA:294
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Ankyloglossia, Mitral... ORPHA:740
Mend Syndrome
Aortic valve stenosis, Abnormal heart morphology, Cryptorchidism, High palate, Cleft palate ORPHA:401973
Erdheim-Chester Disease
Abnormal pericardium morphology, Renal insufficiency, Abnormal aortic valve morphology, Hydroneph... ORPHA:35687
Martin-Probst Syndrome
Umbilical hernia, Renal insufficiency, Cryptorchidism, Proteinuria, Telangiectasia, Chordee, Hypo... OMIM:300519
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Chronic kidney disease, Acute kidney injury, Hypertrophic cardiomyopathy, Exercise-induced myoglo... ORPHA:368
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Failure to thrive, Supernumerary nipple, Decreased testicular size,... ORPHA:261349
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia, Hydranencephaly, Myelomeningocele, Intrauterine growth retardation,... ORPHA:1393
Smith-Lemli-Opitz Syndrome
Hepatic steatosis, Cryptorchidism, Ventricular septal defect, Cirrhosis, Atrial septal defect, Du... OMIM:270400
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Renal insufficiency, High palate, Hepatomegaly, Reduced pancreatic beta cells, Short stature OMIM:226980
Hyperuricemia, Hprt-Related
Hyperuricosuria, Renal insufficiency, Hyperuricemia, Nephrolithiasis OMIM:300323
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:203780
Histiocytoid Cardiomyopathy
Failure to thrive, Cyanosis, Polycystic ovaries, Cardiomegaly, Renal cyst, Ventricular septal def... ORPHA:137675
Generalized Pustular Psoriasis
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Obesity, Renal insuffic... ORPHA:247353
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Incr... OMIM:603553
Bile Acid Malabsorption, Primary, 2
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Decreased circulating chenodeoxych... OMIM:619481
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hematochezia, Gastrointestinal carcinoma, Aortic dissection, Juvenile gastrointestinal polyposis,... OMIM:175050
Goodpasture Syndrome
Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cyanosis, Cylindruri... OMIM:233450
Familial Pancreatic Carcinoma
Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Intestinal pseudo-ob... ORPHA:1333
Primary Biliary Cholangitis
Elevated gamma-glutamyltransferase level, Elevated circulating alkaline phosphatase concentration... ORPHA:186
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Increased circulating lactate dehydrogenase concentration, Elevated circulat... OMIM:268200
Geleophysic Dysplasia 1
Aortic valve stenosis, Congestive heart failure, Mitral stenosis, Pulmonary arterial hypertension... OMIM:231050
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Hepatitis, Recurrent urinary tract infections, Elevated circulating creatinine c... ORPHA:36234
Lymphatic Malformation 10
Lymphedema OMIM:619369
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transamin... OMIM:618329
Holoprosencephaly 13, X-Linked
Hypoplastic left heart, Gastroesophageal reflux, Median cleft palate, Submucous cleft hard palate... OMIM:301043
Schinzel-Giedion Syndrome
Annular pancreas, Anteriorly placed anus, Umbilical hernia, Failure to thrive in infancy, Abnorma... ORPHA:798
Trisomy 10P
Abnormal heart morphology, Intrauterine growth retardation, Absent gallbladder, Multiple renal cy... ORPHA:171929
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentration, Exocrine p... ORPHA:2750
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Hy... ORPHA:567546
Cirrhotic Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Cardiomegaly, Left atrial enlargem... ORPHA:57777
Refsum Disease
Renal insufficiency, Splenomegaly, Cardiomyopathy ORPHA:773
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular canal defect, Abnormal aortic morphology, Ventricular se... ORPHA:392
Systemic Sclerosis
Chronic kidney disease, Barrett esophagus, Acute kidney injury, Intestinal bleeding, Abnormal lar... ORPHA:90291
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Microcytic anemia, Gastrointestinal angiodysplasia, Abnor... ORPHA:903
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu... ORPHA:449432
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Failure to thrive, Polysplenia, Exocrine pancreatic ... OMIM:619418
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas, Duodenal atresia, Abnormality of the pulmonary artery ORPHA:1203
Peripheral Primitive Neuroectodermal Tumor
Increased circulating lactate dehydrogenase concentration, Elevated carcinoma antigen 125 level, ... ORPHA:370348
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Intrauterine growth retardation, Renal insuf... OMIM:251300
Xfe Progeroid Syndrome
Severe short stature, Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, F... OMIM:610965
Transcobalamin Deficiency
Acute kidney injury, Methylmalonic aciduria ORPHA:859
Fanconi Anemia
Aplasia/Hypoplasia of the uvula, Cryptorchidism, Renal hypoplasia/aplasia, Weight loss, Atrial se... ORPHA:84
Focal Dermal Hypoplasia
Erythema, Multicystic kidney dysplasia, Umbilical hernia, Horseshoe kidney, Acute hepatic failure... ORPHA:2092
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, High, narrow palate, Failure to thrive, Recurrent urinary tract infections, De... OMIM:615873
Developmental And Epileptic Encephalopathy 75
Prolonged neonatal jaundice, Cardiomyopathy, Decreased liver function OMIM:618437
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Renal agenesis, Horseshoe kidney, Mitral atresia, Vesicoureteral reflux, Renal insufficiency, Abn... ORPHA:140952
Lathosterolosis
Intrahepatic cholestasis, Hepatic fibrosis, Elevated circulating lathosterol concentration, Eleva... OMIM:607330
Exstrophy-Epispadias Complex
Abnormality of the ureter, Cryptorchidism, Abnormality of the kidney, Urinary incontinence, Anal ... ORPHA:322
Galloway-Mowat Syndrome 10
Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ... OMIM:619609
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... OMIM:265300
Helix Syndrome
Hyperparathyroidism, Hypermagnesemia, Hypocalciuria, Xerostomia, Renal insufficiency, Nephrolithi... OMIM:617671
Granulomatosis With Polyangiitis
Ureteral stenosis, Renal insufficiency, Intestinal obstruction, Hematuria, Proteinuria, Hydroneph... ORPHA:900
Aicardi-Goutieres Syndrome 1
Erythema, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Splenomegaly, ... OMIM:225750
Tuberous Sclerosis 1
Cardiac rhabdomyoma, Renal angiomyolipoma, Renal cyst, Renal cell carcinoma, Adenoma sebaceum OMIM:191100
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Cervical lymphadeno... OMIM:602782
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Situs inversus totalis OMIM:614833
Cystinuria
Hematuria, Renal insufficiency, Hyperuricemia, Nephrolithiasis ORPHA:214
Holt-Oram Syndrome
Cleft soft palate, Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Ve... OMIM:142900
Thauvin-Robinet-Faivre Syndrome
Renal dysplasia, Bifid ureter, Large for gestational age, Nephroblastoma, Mitral valve prolapse, ... OMIM:617107
Progeroid Short Stature With Pigmented Nevi
Aortic valve stenosis, Bicuspid aortic valve, Esophageal ulceration OMIM:176690
Familial Dysautonomia
Renal insufficiency, Hyponatremia, Glomerulopathy, Abnormal peritoneum morphology, Abnormality of... ORPHA:1764
Degcags Syndrome
Chronic kidney disease, Premature graying of hair, Cholestasis, Hepatosplenomegaly, Hyperbilirubi... OMIM:619488
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration OMIM:160010
Tafro Syndrome
Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly, Renal insufficienc... ORPHA:457077
Boutonneuse Fever
Elevated circulating hepatic transaminase concentration, Renal insufficiency, Petechiae ORPHA:83313
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega... ORPHA:251380
Immunodeficiency 87 And Autoimmunity
Elevated gamma-glutamyltransferase level, Cholestasis, Biventricular hypertrophy, Hepatic steatos... OMIM:619573
Familial Chylomicronemia Syndrome
Failure to thrive, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipi... ORPHA:444490
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Bifid uvula, Muscular ventricular septal defect, Truncus arteriosus, Bicusp... OMIM:612474
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Jaundice, Increased circulating lactate dehydrogenase concentration OMIM:613839
Immunodeficiency 96
Conjunctival telangiectasia, Multicystic kidney dysplasia, Growth delay OMIM:619774
Vater/Vacterl Association
Tetralogy of Fallot, Ventricular septal defect, Tracheoesophageal fistula, Esophageal atresia, Tr... OMIM:192350
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Renal insufficiency OMIM:300653
Acute Intermittent Porphyria
Urinary retention, Dark urine, Increased urinary porphobilinogen, Renal insufficiency, Ileus, Abn... ORPHA:79276
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Anal atresia, Cryptorchidism ORPHA:3301
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Arteriovenous malformation, Tetralogy of Fallot, Leukopenia, Portal ... ORPHA:974
Thyroid Hemiagenesis
Hyperparathyroidism, Macroglossia, Umbilical hernia, Jaundice, Growth delay ORPHA:95719
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Intestinal malrotation, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:617866
Beta-Thalassemia Major
Hepatic fibrosis, Abnormality of iron homeostasis, Dilated cardiomyopathy, Hypopituitarism, Failu... ORPHA:231214
3-Methylglutaconic Aciduria, Type Viii
3-Methylglutaric aciduria, Failure to thrive, 3-Methylglutaconic aciduria, Neonatal death, Jaundi... OMIM:617248
Tropical Pancreatitis
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Weight loss... ORPHA:103918
Radio-Renal Syndrome
High, narrow palate, Severe short stature, Multicystic kidney dysplasia, Renal agenesis, Renal hy... ORPHA:3015
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic valve stenosis, Ventricular hypertrophy, Aortic regurgitation, Tricuspid stenosis, Tricusp... OMIM:143095
Listeriosis
Acute kidney injury, Pyelonephritis, Cholecystitis, Peritonitis, Hepatic granulomatosis, Splenic ... ORPHA:533
Fabry Disease
Lipiduria, Renal insufficiency, Angiokeratoma, Proteinuria, Decreased alpha-galactosidase A activ... OMIM:301500
Bardet-Biedl Syndrome 12
Hydronephrosis, Obesity, Hydroureter, Cystic renal dysplasia OMIM:615989
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Atrioventricular canal defect, Conotruncal defect, Median cl... ORPHA:40366
Sweeney-Cox Syndrome
Gastroesophageal reflux, Velopharyngeal insufficiency, Bilateral cryptorchidism, Median cleft pal... OMIM:617746
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Dehydration, Edema ORPHA:103910
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Cholecystitis, Reduced erythrocyte hexokinase a... OMIM:235700
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Pigment gallstones, Decreased glucosephosphate isomerase level, Splenomegaly, Cho... OMIM:613470
Ppoma
Intrahepatic cholestasis, Cholelithiasis, Pituitary adenoma, Increased circulating prolactin conc... ORPHA:97278
Transaldolase Deficiency
Biventricular hypertrophy, Coarctation of aorta, Atrial septal defect ORPHA:101028
Joubert Syndrome 21
Occipital encephalocele, Hyperechogenic kidneys, Encephalocele, Splenomegaly, Renal cyst OMIM:615636
Nail-Patella Syndrome
Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Spina bifida, Short stature, Nep... OMIM:161200
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Renal hypoplasia, Disproportionate short stature, Failure to thrive, Tetralogy of Fallot, Muscula... OMIM:210710
Loeys-Dietz Syndrome 4
High, narrow palate, Bifid uvula, Aortic root aneurysm, Aortic dissection, Broad uvula, Arterial ... OMIM:614816
Tuberous Sclerosis 2
Cardiac rhabdomyoma, Renal angiomyolipoma, Renal cyst, Renal cell carcinoma, Adenoma sebaceum, Ab... OMIM:613254
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephropathy, Focal segmental glomerulosclerosis, Hypoalbuminemia, Renal insufficiency, Proteinuri... OMIM:254900
Marburg Hemorrhagic Fever
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Bruising susceptibility... ORPHA:99826
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,... OMIM:618913
Joubert Syndrome With Renal Defect
Nephropathy, Renal insufficiency, Encephalocele, Aganglionic megacolon, Cleft palate ORPHA:220497
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Reduced circulating aldolase concentration, Myoglobinuria, Hyperkalemia, Gro... ORPHA:57
Isolated Thyroid-Stimulating Hormone Deficiency
Neonatal hyperbilirubinemia, Growth delay, Failure to thrive, Increased circulating prolactin con... ORPHA:90674
Meckel Syndrome, Type 1
Occipital encephalocele, Abnormality of the ureter, Large placenta, Cryptorchidism, Anal atresia,... OMIM:249000
Neu-Laxova Syndrome 1
Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Transposition of the great arter... OMIM:256520
Catel-Manzke Syndrome
Bifid uvula, Cryptorchidism, Ventricular septal defect, Overriding aorta, Coarctation of aorta, D... OMIM:616145
Ethylene Glycol Poisoning
Renal insufficiency, Hypocalcemia, Renal tubular dysfunction, Cyanosis, Hematuria, Gastritis, Dec... ORPHA:31826
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Failure to thrive, Intrauterine growth retardation, Stage 5 chronic kidney disea... OMIM:617729
Combined Oxidative Phosphorylation Deficiency 59
Cholelithiasis, Failure to thrive, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Hyperalani... OMIM:620646
Reynolds Syndrome
Xerostomia, Generalized abnormality of skin, Abnormal gastric mucosa morphology, Cirrhosis, Telan... ORPHA:779
Joubert Syndrome With Oculorenal Defect
Nephropathy, Aganglionic megacolon, Renal insufficiency, Encephalocele ORPHA:2318
Fanconi Anemia, Complementation Group B
Duodenal atresia, Abnormal lung lobation, Ventricular septal defect, Coarctation of aorta, Trache... OMIM:300514
Cerebrocostomandibular Syndrome
Anal stenosis, Anteriorly placed anus, Horseshoe kidney, Postnatal growth retardation, Cleft soft... OMIM:117650
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Nephritis, Biliary cirrhosis, Hypotriglyceridemia, Glycosuria, Abnormal circulat... ORPHA:2298
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Large intestinal polyposis, Multiple renal cysts, Adenomatous colonic polypos... ORPHA:220460
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Increased circulating lactate dehydrogenase concentration, Anuria, Acute col... ORPHA:90038
Pediatric Systemic Lupus Erythematosus
Nephritis, Abnormality of the urinary system, Increased circulating lactate dehydrogenase concent... ORPHA:93552
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, C... ORPHA:49
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Hamartoma of tongue, Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular... OMIM:217085
Meningococcal Meningitis
Elevated circulating C-reactive protein concentration, Purpura, Renal insufficiency, Petechiae ORPHA:33475
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal blood inorganic cation concentration, Elevated circulating hepatic transaminase concentr... ORPHA:309854
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Supernumerary nipple, Cryptorchidism, Ventricular septal defect, He... ORPHA:373
Graft Versus Host Disease
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatosplenomegaly, H... ORPHA:39812
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Failure to thrive, Decreased glomerular filtration rate, Renal ... OMIM:613090
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Chronic kidney disease, Failure to thrive in infancy, Decreased glomerular filtration rate, Cyano... ORPHA:488627
22Q11.2 Deletion Syndrome
Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hypoparathyroidism, Anal atresia... ORPHA:567
Rift Valley Fever
Hematuria, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatitis ORPHA:319251
Mayer-Rokitansky-Kuster-Hauser Syndrome
Multicystic kidney dysplasia, Reduced renal corticomedullary differentiation, Polycystic ovaries,... OMIM:277000
Avian Influenza
Hypoalbuminemia, Acute kidney injury, Elevated circulating hepatic transaminase concentration, In... ORPHA:454836
Calciphylaxis
Cutis marmorata, Stage 5 chronic kidney disease, Hyperphosphatemia, Secondary hyperparathyroidism ORPHA:280062
Vipoma
Intrahepatic cholestasis, Erythema, Pituitary adenoma, Increased circulating prolactin concentrat... ORPHA:97282
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Digeorge Syndrome
Hepatic steatosis, Ovarian cyst, Ventricular septal defect, High palate, Renal dysplasia, Patent ... OMIM:188400
Somatostatinoma
Intrahepatic cholestasis, Pituitary adenoma, Increased circulating prolactin concentration, Steat... ORPHA:97283
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Bardet-Biedl Syndrome
Chronic kidney disease, Inflammation of the large intestine, Hepatic steatosis, Cryptorchidism, P... ORPHA:110
Autoinflammatory Disease, Systemic, With Vasculitis
Erythema, Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Elevated cir... OMIM:620376
Atresia Of Urethra
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... ORPHA:105
Fanconi Anemia, Complementation Group D2
Duplicated collecting system, Annular pancreas, Renal agenesis, Bruising susceptibility, Horsesho... OMIM:227646
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Ventricular septal defect, Varicose veins, Peripheral arterial stenosis, Paten... OMIM:126320
Evans Syndrome
Jaundice, Petechiae, Bruising susceptibility ORPHA:1959
Hereditary Spherocytosis
Cholelithiasis, Restrictive cardiomyopathy, Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Jaund... ORPHA:822
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Hyperbilirubinemia, Renal insufficiency ORPHA:713
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Arteriovenous malformation, Congestive heart failure, Venous insufficiency, Lymphangioma, Ovarian... ORPHA:137608
Klatskin Tumor
Weight loss, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis ORPHA:99978
Grfoma
Intrahepatic cholestasis, Cholelithiasis, Pituitary adenoma, Increased circulating prolactin conc... ORPHA:97261
Cockayne Syndrome Type 3
Unilateral renal agenesis, Renal hypoplasia, Elevated circulating hepatic transaminase concentrat... ORPHA:90324
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Abnormal lung lobation, Decreased response to growth hormone stimulation te... OMIM:614114
Resistance To Thyrotropin-Releasing Hormone Syndrome
Growth delay, Increased circulating prolactin concentration, Abnormal circulating thyroglobulin c... ORPHA:99832
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts, Elevated circulating creati... OMIM:618733
Galloway-Mowat Syndrome 9
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, ... OMIM:619603
Phelan-Mcdermid Syndrome
Vesicoureteral reflux, Ventricular septal defect, Abnormality of the kidney, High palate, Polycys... OMIM:606232
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial... OMIM:613426
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Situs inversus totalis ORPHA:990
Severe Oculo-Renal-Cerebellar Syndrome
Proteinuria, Glomerulopathy, Renal insufficiency, Short stature ORPHA:2715
Complement Factor I Deficiency
Pyelonephritis, Renal insufficiency, Glomerulonephritis, Recurrent urinary tract infections OMIM:610984
Mitochondrial Complex I Deficiency, Nuclear Type 29
Failure to thrive, Mitochondrial swelling, Abnormal heart morphology, Hypertrophic cardiomyopathy... OMIM:618250
Congenital Disorder Of Glycosylation, Type Ij
Jaundice, Elevated circulating hepatic transaminase concentration, Hypoproteinemia, Cryptorchidism OMIM:608093
Kyphoscoliotic Ehlers-Danlos Syndrome
Subdural hemorrhage, Arterial rupture, Antenatal intracerebral hemorrhage, Bicuspid aortic valve,... ORPHA:536545
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Elevated amniotic fluid alpha-fetoprotein, Intrauterine growth retardation, Severe failure to thr... ORPHA:423479
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in... ORPHA:562639
Robinow Syndrome
Webbed penis, Multicystic kidney dysplasia, Umbilical hernia, Abnormal heart morphology, Ankylogl... ORPHA:97360
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Elevated circulating creatine kinase concentration, Biliary atresia ORPHA:565899
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Chronic kidney disease, Renal amyloidosis, Abnormality of the urinary system, IgA deposition in t... ORPHA:79408
Acute Generalized Exanthematous Pustulosis
Cholestasis, Purpura, Elevated circulating hepatic transaminase concentration, Renal insufficiency ORPHA:293173
Lujo Hemorrhagic Fever
Oliguria, Elevated circulating hepatic transaminase concentration, Increased circulating lactate ... ORPHA:319213
Bohring-Opitz Syndrome
Gastroesophageal reflux, Supernumerary nipple, Intestinal malrotation, Bilateral cleft palate, Ve... OMIM:605039
Charge Syndrome
Anal stenosis, Secundum atrial septal defect, Duodenal atresia, Tetralogy of Fallot, Right aortic... OMIM:214800
Hereditary Chronic Pancreatitis
Abnormal circulating enzyme concentration or activity, Pancreatic calcification, Recurrent pancre... ORPHA:676
Holoprosencephaly-Caudal Dysgenesis Syndrome
Renal insufficiency, Cleft palate ORPHA:2165
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Glomerular bas... OMIM:609057
Triosephosphate Isomerase Deficiency
Cholelithiasis, Failure to thrive, Cholecystitis, Splenomegaly, Prolonged neonatal jaundice, Jaun... OMIM:615512
Lamellar Ichthyosis
Short stature, Renal insufficiency ORPHA:313
Mend Syndrome
Aortic valve stenosis, High palate, Cryptorchidism OMIM:300960
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria, Elevated circulating hepatic transaminase concentration, Obesity, Cryptorch... OMIM:614231
Acute Liver Failure
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Hepatitis, Bruising... ORPHA:90062
Mosaic Trisomy 16
Meckel diverticulum, Anteriorly placed anus, Abnormal heart morphology, Ventricular septal defect... ORPHA:1708
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227990
Lysinuric Protein Intolerance
Aminoaciduria, Hyperlysinuria, Failure to thrive, Increased circulating ferritin concentration, O... OMIM:222700
Smith-Lemli-Opitz Syndrome
Multicystic kidney dysplasia, Cutis marmorata, Cryptorchidism, Renal hypoplasia/aplasia, Ventricu... ORPHA:818
Loeys-Dietz Syndrome 6
Bifid uvula, Spontaneous pneumothorax, Ventricular hypertrophy, Vertebral artery aneurysm, Broad ... OMIM:619656
Multiple Myeloma
Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Splenomegaly, We... ORPHA:29073
Cystic Fibrosis
Cor pulmonale, Biliary cirrhosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatospl... OMIM:219700
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Elevated circulating creatinine concentration, Proteinuria, Hematuria, Ab... OMIM:123550
Acth Deficiency, Isolated
Cholestasis, Jaundice, Adrenocorticotropic hormone deficiency OMIM:201400
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pulmonary hypoplasia, Pancreatic fibrosis, Ventricular septal defect OMIM:615503
Joubert Syndrome 8
Prolonged neonatal jaundice, Hepatomegaly, Obesity, Occipital encephalocele OMIM:612291
Osteopathia Striata With Cranial Sclerosis
Bifid uvula, Multicystic kidney dysplasia, Anal stenosis, Failure to thrive, Intestinal malrotati... OMIM:300373
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hamartoma of tongue, Occipital meningocele, Anencephaly, Atrial septal defect, Micropenis, Polycy... OMIM:616546
Frank-Ter Haar Syndrome
Secundum atrial septal defect, Mitral valve prolapse, Ventricular septal defect, Patent foramen o... OMIM:249420
Cardiogenic Shock
Hypotension, Right ventricular failure, Edema, Abnormal left ventricular function, Congestive hea... ORPHA:97292
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Bifid uvula, Submucous cleft of soft and hard palate, Tetralogy of Fallot,... ORPHA:261537
Au-Kline Syndrome
Chronic kidney disease, Bifid uvula, Dilatation of the renal pelvis, Failure to thrive, Supernume... OMIM:616580
Fabry Disease
Nephropathy, Abnormal circulating lipid concentration, Hypertrophic cardiomyopathy, Renal insuffi... ORPHA:324
Progressive Non-Infectious Anterior Vertebral Fusion
Abdominal situs inversus ORPHA:2062
Crimean-Congo Hemorrhagic Fever
Hepatic failure, Increased circulating lactate dehydrogenase concentration, Spontaneous hematomas... ORPHA:99827
Hydrocephaly-Low Insertion Umbilicus Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous return ORPHA:2184
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Nephropathy, Chronic kidney disease, Failure to thrive, Stage 5 chronic kidney disease, Esophagea... ORPHA:1018
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Xerostomia, Oliguria, Renal insufficiency ORPHA:220393
Glucagonoma
Intrahepatic cholestasis, Pituitary adenoma, Increased circulating prolactin concentration, Steat... ORPHA:97280
Anemia, Congenital Dyserythropoietic, Type Ia
Increased circulating lactate dehydrogenase concentration, Hyperbilirubinemia, Mild postnatal gro... OMIM:224120
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Bruising susceptibility, Cardiomyopathy, Renal insufficiency... OMIM:203300
Townes-Brocks Syndrome
Cryptorchidism, Atrial septal defect, Abnormality of the kidney, Rectoperineal fistula, Anal atre... ORPHA:857
Asplenia, Isolated Congenital
Asplenia, Howell-Jolly bodies, Thrombocytosis OMIM:271400
Mowat-Wilson Syndrome
Aortic valve stenosis, Cryptorchidism, Bicuspid aortic valve, Dysphagia, Patent ductus arteriosus... ORPHA:2152
Anemia, Congenital Dyserythropoietic, Type Iiia
Jaundice, Increased circulating lactate dehydrogenase concentration, Hemosiderinuria, Reduced hap... OMIM:105600
Lymphatic Malformation 6
Gastroesophageal reflux, Chylothorax, Intestinal lymphangiectasia, Pleural effusion, Splenomegaly... OMIM:616843
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Hyperbilirubinemia, Splenomegaly OMIM:182900
Waldenström Macroglobulinemia
Cutis marmorata, Renal insufficiency, Splenomegaly, Hepatomegaly, Purpura, Urticaria ORPHA:33226
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Disproportionate short-limb short stature, Umbilical hernia, Tetral... ORPHA:1507
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
High, narrow palate, Arterial dissection, Recurrent pneumonia, Aortic dissection, Abnormal venous... ORPHA:1900
Hypomagnesemia 2, Renal
Hypocalciuria, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, Hypokalemia OMIM:154020
Menkes Disease
Spontaneous hematomas, Umbilical hernia, Intrauterine growth retardation, Bladder diverticulum, P... ORPHA:565
Thymic Neuroendocrine Tumor
Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio... ORPHA:97289
Immunoglobulin A Vasculitis
Erythema, Bruising susceptibility, Angioedema, Vascular skin abnormality, Renal insufficiency, Or... ORPHA:761
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Subvalvular aortic stenosis, Dysphagia, Mitral stenosis, Pyloric stenosis OMIM:619461
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Elevated gamma-glutamyltransferase level, Cholecystitis, Elevated alkalin... ORPHA:100086
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227982
20Q13.33 Microdeletion Syndrome
Hematochezia, Abnormal cardiac ventricle morphology, Dilation of Virchow-Robin spaces, Atrial sep... ORPHA:261311
Peroxisome Biogenesis Disorder 6B
Prolonged neonatal jaundice, Delayed menarche, Decreased liver function, Elevated circulating phy... OMIM:614871
Car T Cell Therapy-Associated Cytokine Release Syndrome
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Elevated circulatin... ORPHA:542323
Hereditary Elliptocytosis
Cholelithiasis, Neonatal hyperbilirubinemia, Postnatal growth retardation, Hyperbilirubinemia, Sp... ORPHA:288
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Heart murmur, Edema, Congestive heart failure ORPHA:1054
Cockayne Syndrome
Postnatal growth retardation, Cryptorchidism, Reduced subcutaneous adipose tissue, Cachexia, Hepa... ORPHA:191
Spondyloepimetaphyseal Dysplasia, Krakow Type
High palate, Annular pancreas, Patent ductus arteriosus, Atrial septal defect OMIM:618162
Wolf-Hirschhorn Syndrome
Abdominal situs inversus, Abnormal heart valve morphology, Abnormality of the gallbladder, Crypto... ORPHA:280
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Chondrodysplasia, Blomstrand Type
Preductal coarctation of the aorta OMIM:215045
Lead Poisoning
Chronic kidney disease, Increased LDL cholesterol concentration, Renal tubular dysfunction, Delay... ORPHA:330015
Cutis Marmorata Telangiectatica Congenita
Multicystic kidney dysplasia, Subcutaneous hemorrhage, Intrauterine growth retardation, Cutis mar... ORPHA:1556
Alpha-Thalassemia
Cholelithiasis, Hepatosplenomegaly, Hypersplenism, Splenomegaly, Pericardial effusion, Jaundice ORPHA:846
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Jaundice, Failure to thrive ORPHA:276
Townes-Brocks Syndrome 1
Renal hypoplasia, Multicystic kidney dysplasia, Rectovaginal fistula, Anal stenosis, Duodenal atr... OMIM:107480
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
High, narrow palate, Elevated circulating hepatic transaminase concentration, Short uvula, Failur... OMIM:619475
Pearson Marrow-Pancreas Syndrome
3-Methylglutaric aciduria, Erythema, Hepatic failure, Elevated circulating hepatic transaminase c... OMIM:557000
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Atel... ORPHA:51636
Thyroid Hypoplasia
Macroglossia, Growth delay, Short stature, Jaundice, Thyroid hypoplasia ORPHA:95720
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Hyphema, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve,... ORPHA:261552
Mckusick-Kaufman Syndrome
Hydroureter, Vesicovaginal fistula, Cryptorchidism, Hydronephrosis, Aganglionic megacolon, Anal a... OMIM:236700
Pancreas, Annular
Annular pancreas, High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
Annular pancreas, High intestinal obstruction, Duodenal stenosis ORPHA:675
Acrorenal-Mandibular Syndrome
Narrow palate, Absent nipple, Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, ... OMIM:200980
Cockayne Syndrome B
Severe short stature, Failure to thrive, Progeroid facial appearance, Postnatal growth retardatio... OMIM:133540
Esophageal Atresia
Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Pulmonary hypoplasia, Bro... ORPHA:1199
Leptospirosis
Acute kidney injury, Hepatitis, Elevated serum transaminases during infections, Cellular urinary ... ORPHA:509
Scalp-Ear-Nipple Syndrome
Unilateral renal agenesis, Renal hypoplasia, Bifid uvula, Breast aplasia, Pyelonephritis, Renal i... OMIM:181270
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Decreased circulating carnitine co... ORPHA:3337
Severe Acute Respiratory Syndrome
Acute kidney injury ORPHA:140896
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Pancreatic hypoplasia, Failure to thrive, Postnatal growth retardation, Intrauter... ORPHA:83617
Occipital Horn Syndrome
High, narrow palate, Hepatitis, Bruising susceptibility, Recurrent urinary tract infections, Chol... ORPHA:198
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Acute kidney injury, Oliguria, Elevated circulating hepatic transaminase ... ORPHA:340
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Intrauterine growth retardation, Stomach cancer, Intestinal polypos... ORPHA:1052
Genetic Transient Congenital Hypothyroidism
Goiter, Umbilical hernia, Prolonged neonatal jaundice, Macroglossia, Thyroid hypoplasia, Increase... ORPHA:226316
Relapsing Polychondritis
Erythema, Hepatitis, Anteriorly placed anus, Renal insufficiency, Abnormal aortic valve morpholog... ORPHA:728
Pseudo-Torch Syndrome 3
Proteinuria, Acute kidney injury, Cardiomegaly, Increased circulating ferritin concentration OMIM:618886
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Elevated gamma-glutamyltransferase level, Growth delay, Splenomegaly, Conjugated hyperbilirubinem... OMIM:608885
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Aortic valve calcification, Bacterial endocarditis, Cholelithiasis, Hepatic fibrosis, Abnormality... ORPHA:2072
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Pleural effusion, Ca... OMIM:182250
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Increased circulating lactate dehydroge... OMIM:309000
Holoprosencephaly 14
Double outlet right ventricle, Aortic valve atresia, Cleft palate, Ventricular septal defect OMIM:619895
Diamond-Blackfan Anemia 7
Secundum atrial septal defect, Increased mean corpuscular volume, Tetralogy of Fallot, Esophagiti... OMIM:612562
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Gastroesophageal reflux, High, narrow palate, Ventricular septal defect OMIM:616920
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pleural effusion, Pancreatic calcification, Pancreatitis, Stea... OMIM:167800
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Postnatal growth retardation, Splenomega... OMIM:613027
Acute Adrenal Insufficiency
Failure to thrive, Renal insufficiency, Hyperuricemia, Hyponatremia, Decreased urinary potassium,... ORPHA:95409
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Neonatal hyperbilirubinemia, Increased circulating lactate dehydrogenase concentr... ORPHA:3202
Pancreatoblastoma
Pancreatic calcification, Jaundice, Weight loss ORPHA:677
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Gastroesophageal reflux, Right aortic arch, Cleft palate, Ventricular septal defect ORPHA:513456
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Jaundice, Hyperbilirubinemia, Splenomegaly OMIM:616689
Spondyloenchondrodysplasia
Chronic kidney disease, Hepatitis, Decreased response to growth hormone stimulation test, Hematur... ORPHA:1855
Imerslund-Grasbeck Syndrome 2
Moderate albuminuria, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Growt... OMIM:618882
Liddle Syndrome 1
Hypokalemia, Renal insufficiency, Decreased circulating renin level OMIM:177200
Hyperuricemic Nephropathy, Familial Juvenile, 3
Hyperuricemia, Abnormal renal insterstitial morphology, Renal insufficiency, Impaired renal conce... OMIM:614227
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism, Abnormal cerebral vascular morphology, Venous insufficiency ORPHA:745
Proteus Syndrome
Long penis, Thymus hyperplasia, Vascular skin abnormality, Sirenomelia, Splenomegaly, Enlarged po... ORPHA:744
Jacobsen Syndrome
Annular pancreas, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Thrombocytopen... OMIM:147791
Peters-Plus Syndrome
Renal hypoplasia, Rhizomelia, Disproportionate short-limb short stature, Anteriorly placed anus, ... OMIM:261540
Cranioectodermal Dysplasia 1
Chronic kidney disease, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatic failu... OMIM:218330
15q26 overgrowth syndrome
Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephro... DECIPHER:81
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Umbilical hernia, Prolonged neonatal jaundice, Macroglossia, Thyroid... ORPHA:90673
Arterial Tortuosity Syndrome
Gastroesophageal reflux, Aortic root aneurysm, Aortic dissection, Dilated cardiomyopathy, Hypertr... ORPHA:3342
Peters Plus Syndrome
Multicystic kidney dysplasia, Postnatal growth retardation, Cryptorchidism, Renal hypoplasia/apla... ORPHA:709
Fanconi Anemia, Complementation Group Q
Anteriorly placed anus, Biliary atresia, Esophageal atresia, Short stature, Growth delay, Primum ... OMIM:615272
Cornelia De Lange Syndrome
Multicystic kidney dysplasia, Cutis marmorata, Cryptorchidism, Ventricular septal defect, Atrial ... ORPHA:199
Proteus-Like Syndrome
Thymus hyperplasia, Bronchogenic cyst, Abnormality of the parathyroid gland, Splenomegaly, Polycy... ORPHA:2969
Cockayne Syndrome A
Failure to thrive, Progeroid facial appearance, Intrauterine growth retardation, Renal insufficie... OMIM:216400
Gjc2-Related Late-Onset Primary Lymphedema
Abnormal lymphatic vessel morphology, Varicose veins, Hypoplasia of lymphatic vessels, Venous ins... ORPHA:568051
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Bifid uvula, Peripheral pulmonary artery stenosis, Aortic root aneurysm, Hypertrophic cardiomyopa... OMIM:617506
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... OMIM:238600
Pyomyositis
Testicular teratoma, Weight loss, Renal insufficiency ORPHA:764
Aicardi-Goutières Syndrome
Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Hepatosplen... ORPHA:51
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Renal insufficiency, Abnormal aortic valve morphology, Proteinuria, Glomerulopathy, Microscopic h... ORPHA:86818
Overhydrated Hereditary Stomatocytosis
Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Jaundice OMIM:185000
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Renal hypoplasia, Disproportionate short-limb short stature, Cryptorchidism, Congenital hepatic f... ORPHA:93271
Constricting Bands, Congenital
Abnormal lung lobation, Cleft palate, Ectopia cordis OMIM:217100
Behçet Disease
Renal insufficiency, Splenomegaly, Orchitis, Glomerulopathy, Weight loss, Pancreatitis, Abnormal ... ORPHA:117
African Trypanosomiasis
Myelopathy, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Hepatomegaly, Weight loss, Abn... ORPHA:3385
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Multicystic kidney dysplasia, Occipital encephalocele, Decreased testicular size, Elevated circul... OMIM:615287
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Absent pulmonary artery, Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Pa... OMIM:600460
Congenital Heart Defects And Skeletal Malformations Syndrome
Aortic root aneurysm, Intestinal malrotation, Ventricular septal defect, Coarctation of aorta, At... OMIM:617602
Poland Syndrome
Acute leukemia, Abnormality of the liver, Cryptorchidism, Atrial septal defect, Dextrocardia ORPHA:2911
C Syndrome
Multicystic kidney dysplasia, Horseshoe kidney, Failure to thrive in infancy, Cryptorchidism, Ren... ORPHA:1308
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Adrenal hyperplasia, Hyponatremia, Jaundice, Macroorchidism, Hyperkalemia ORPHA:90790
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Long penis, Horseshoe kidney, Postnatal growth retardation, Cryptorchidism, Bil... OMIM:268300
Noonan Syndrome 9
Coarctation of aorta, Pulmonic stenosis, Ventricular septal defect OMIM:616559
Zygomycosis
Colon perforation, Nephritis, Hepatitis, Renal insufficiency, Ileitis, Peritonitis, Enterocolitis... ORPHA:73263
Ctcf-Related Neurodevelopmental Disorder
Failure to thrive, Cryptorchidism, Phimosis, Patent ductus arteriosus, Atrial septal defect, Prol... ORPHA:363611
Humeroradial Synostosis
Renal insufficiency OMIM:236400
Reynolds Syndrome
Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Palmar telangiectasia... OMIM:613471
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Pigment gallstones, Increased circulating lactate dehydrogena... ORPHA:232
Spondylocarpotarsal Synostosis Syndrome
Renal cyst, Disproportionate short-trunk short stature, Cleft palate OMIM:272460
De Barsy Syndrome
Prominent veins on trunk, Ventricular septal defect, Persistent left superior vena cava, Recurren... ORPHA:2962
Phace Association
Arterial stenosis, Ventricular septal defect, Aortic aneurysm, Coarctation of aorta, Anomalous br... OMIM:606519
Familial Mediterranean Fever
Renal amyloidosis, Stage 5 chronic kidney disease, Splenomegaly, Orchitis, Peritonitis, Elevated ... OMIM:249100
Isolated Cleft Lip
Situs inversus totalis, Velopharyngeal insufficiency ORPHA:199302
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism, Abnormal cerebral vascular morphology, Venous insufficiency ORPHA:743
Hand-Foot-Genital Syndrome
Pyelonephritis, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction obstruction, C... OMIM:140000
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Renal cyst, Hypospadias, Cryptorchidism, Anteriorly placed anus ORPHA:495875
Colchicine Poisoning
Oliguria, Hypomagnesemia, Renal insufficiency, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosp... ORPHA:31824
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal circulating enzyme concentration or activity, Abnormal duod... ORPHA:512
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Renal hypoplasia, Intestinal malrotation, Decreased testicular size, Intrauterine growth retardat... OMIM:619321
Congenital Isolated Acth Deficiency
Prolonged neonatal jaundice, Hyponatremia, Hepatitis ORPHA:199296
Sotos Syndrome
Cryptorchidism, Ventricular septal defect, Atrial septal defect, Abnormality of the kidney, Hypos... ORPHA:821
Loeys-Dietz Syndrome 2
Aortic root aneurysm, Generalized arterial tortuosity, Abdominal aortic aneurysm, Mitral valve pr... OMIM:610168
Spherocytosis, Type 4
Jaundice, Hyperbilirubinemia, Splenomegaly OMIM:612653
Coccidioidomycosis
Abnormality of the spleen, Abnormality of the liver, Renal insufficiency, Peritonitis, Pancreatit... ORPHA:228123
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Cirrhosis, Iron deficiency anemia, Chronic... OMIM:269200
Agel Amyloidosis
Xerostomia, Bruising susceptibility, Cardiomyopathy, Stage 5 chronic kidney disease, Dermatologic... ORPHA:85448
Chédiak-Higashi Syndrome
Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen... ORPHA:167
Roberts Syndrome
Long penis, Postnatal growth retardation, Cryptorchidism, Severe intrauterine growth retardation,... ORPHA:3103
Encephalocraniocutaneous Lipomatosis
Peripheral pulmonary artery stenosis, Cryptorchidism, Ventricular septal defect, Subvalvular aort... OMIM:613001
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect, Cleft palate OMIM:243440
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Urinary retention, Intrauterine growth retardation, Nephroblast... ORPHA:97297
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Pleural effusion, Mitral stenosis, Mitral valve prolapse, Ventricula... OMIM:616564
Hallermann-Streiff Syndrome
High, narrow palate, Abdominal situs inversus, Congestive heart failure, Cryptorchidism, Glossopt... ORPHA:2108
Niemann-Pick Disease, Type C2
Splenomegaly, Hepatomegaly, Low cholesterol esterification rate, Prolonged neonatal jaundice, Jau... OMIM:607625
Primary Sjögren Syndrome
Biliary cirrhosis, Xerostomia, Chronic active hepatitis, Parotitis, Cutis marmorata, Renal insuff... ORPHA:289390
Familial Multiple Nevi Flammei
Pulmonary embolism, Arteriovenous malformation, Venous insufficiency, Arrhythmia, Intracranial he... ORPHA:624
Kleefstra Syndrome 1
Gastroesophageal reflux, Conotruncal defect, Protruding tongue, Cryptorchidism, Macroglossia, Rec... OMIM:610253
Mandibuloacral Dysplasia With Type B Lipodystrophy
Progeroid facial appearance, Stage 5 chronic kidney disease, Hyperlipidemia, Decreased adipose ti... OMIM:608612
Angioosteohypotrophic Syndrome
Telangiectasia of the skin, Venous malformation, Prominent superficial veins ORPHA:75508
Infection-Related Hemolytic Uremic Syndrome
Acute kidney injury, Oliguria, Anuria, Hypocalcemia, Hyponatremia, Decreased urine output, Pancre... ORPHA:544482
Spherocytosis, Type 2
Jaundice, Hyperbilirubinemia, Splenomegaly OMIM:616649
Thymic Carcinoma
Neoplasm of the thymus, Abnormal vena cava morphology, Mediastinal lymphadenopathy ORPHA:99868
Pallister-Killian Syndrome
Aortic valve stenosis, Bifid uvula, Anal stenosis, Anteriorly placed anus, Supernumerary nipple, ... OMIM:601803
Turner Syndrome Due To Structural X Chromosome Anomalies
Inflammation of the large intestine, Postnatal growth retardation, Hepatic steatosis, Renal hypop... ORPHA:99413
Mosaic Monosomy X
Inflammation of the large intestine, Postnatal growth retardation, Hepatic steatosis, Renal hypop... ORPHA:99228
Monosomy X
Inflammation of the large intestine, Postnatal growth retardation, Hepatic steatosis, Renal hypop... ORPHA:99226
Turner Syndrome
Inflammation of the large intestine, Postnatal growth retardation, Hepatic steatosis, Renal hypop... ORPHA:881
North American Indian Childhood Cirrhosis
Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension OMIM:604901
Nephrolithiasis, Calcium Oxalate, 1
Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr... OMIM:167030
Cholera
Acute kidney injury, Abnormal blood ion concentration, Hypocalcemia, Hypokalemia, Hyponatremia, P... ORPHA:173
Nail-Patella Syndrome
Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Renal insuffic... ORPHA:2614
Eisenmenger Syndrome
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Hepatomegaly, ... ORPHA:97214
Lymphedema-Distichiasis Syndrome
Chylothorax, Tetralogy of Fallot, Ventricular septal defect, Arrhythmia, Varicose veins, Patent d... OMIM:153400
Femoral-Facial Syndrome
Abnormal renal collecting system morphology, Renal agenesis, Encephalocele, Cryptorchidism, Ventr... OMIM:134780
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Focal segmental glomerulosclerosis, Hypoalbuminemia, Erythema, Decreased glomerular filtration ra... OMIM:614748
Hereditary Cryohydrocytosis With Reduced Stomatin
Postnatal growth retardation, Hepatosplenomegaly, Short stature, Jaundice, Conjugated hyperbiliru... ORPHA:168577
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Bifid uvula, Absent nipple, Branchial cyst, Ankyloglossia, Intrauterine growth retardation, Paten... OMIM:620186
Limb Body Wall Complex
Abnormal heart morphology, Abnormality of the liver, Ventricular septal defect, Abnormal intestin... ORPHA:2369
Chromosome 2Q37 Deletion Syndrome
Arrhythmia, Subvalvular aortic stenosis OMIM:600430
Parkes Weber Syndrome
Arteriovenous malformation, Vascular tortuosity, Venous malformation, Spinal arteriovenous malfor... ORPHA:90307
Rh Deficiency Syndrome
Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly, Hyperbilirubinemia... ORPHA:71275
Arteriosclerosis, Severe Juvenile
Chronic kidney disease, Short stature, Delayed puberty, Gastric ulcer OMIM:208060
Autoimmune Lymphoproliferative Syndrome
Hepatitis, Bruising susceptibility, Urticaria, Hypersplenism, Renal insufficiency, Splenomegaly, ... ORPHA:3261
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Growth delay, Pituitary hypothyroidism, Umbilical hernia, Hypopituit... ORPHA:226307
Cranioectodermal Dysplasia 4
Short stature, Stage 5 chronic kidney disease OMIM:614378
Lymphangioleiomyomatosis
Abnormal urinary color, Hematuria, Renal angiomyolipoma, Multiple renal cysts, Renal neoplasm, Ch... ORPHA:538
Neuroleptic Malignant Syndrome
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, ... ORPHA:94093
Niemann-Pick Disease, Type C1
Splenomegaly, Fatal liver failure in infancy, Prolonged neonatal jaundice, Low cholesterol esteri... OMIM:257220
Wolf-Hirschhorn Syndrome
Accessory spleen, Malrotation of small bowel, Growth delay, Failure to thrive, Intrauterine growt... OMIM:194190
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia ORPHA:529799
Chronic Bilirubin Encephalopathy
Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Hypernatremia, Hypoalbuminemia ORPHA:529808
Hellp Syndrome
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Poor wound healing,... ORPHA:244242
Scorpion Envenomation
Erythema, Acute kidney injury, Ketonuria, Glycosuria, Increased circulating lactate dehydrogenase... ORPHA:466677
Malignant Hyperthermia Of Anesthesia
Cardiomyocyte mitochondrial proliferation, Acute kidney injury, Hyperphosphatemia, Acute hepatic ... ORPHA:423
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Hypoplastic left heart, Anteriorly placed anus, Tetralogy of Fallot, Cryptorchidism, Patent foram... OMIM:618748
Spherocytosis, Type 5
Jaundice, Splenomegaly OMIM:612690
Hermansky-Pudlak Syndrome
Weight loss, Renal insufficiency, Bruising susceptibility, Cardiomyopathy ORPHA:79430
Branchiooculofacial Syndrome
Renal agenesis, Supernumerary nipple, Premature graying of hair, Postnatal growth retardation, In... OMIM:113620
Thyroid Ectopia
Macroglossia, Umbilical hernia, Lingual thyroid, Short stature, Jaundice, Growth delay, Ectopic t... ORPHA:95712
Chediak-Higashi Syndrome
Hepatomegaly, Jaundice, Bruising susceptibility, Splenomegaly OMIM:214500
Craniofacial Microsomia 1
Tetralogy of Fallot, Right aortic arch, Ventricular septal defect, Coarctation of aorta, Patent d... OMIM:164210
Mercury Poisoning
Hypokalemia, Acute kidney injury ORPHA:330021
Aceruloplasminemia
Abnormal pancreas morphology, Congestive heart failure, Hypochromic microcytic anemia, Elevated h... ORPHA:48818
Erythrocytosis, Familial, 2
Hypotension, Varicose veins, Increased hematocrit, Increased red blood cell mass, Stroke, Increas... OMIM:263400
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Perianal erythema, Growth delay, Renal a... OMIM:308205
Shwachman-Diamond Syndrome 2
Normocytic anemia, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatomegaly, Neut... OMIM:617941
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h... OMIM:617052
Milroy Disease
Hydrocele testis, Abnormal venous morphology, Varicose veins ORPHA:79452
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Prolonged neonatal jaundice, Short stature, High palate OMIM:233600
Enlarged Parietal Foramina
Venous malformation, Abnormal cerebral vein morphology, Cleft palate ORPHA:60015
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Small for gestational a... OMIM:613658
Letterer-Siwe Disease
Jaundice, Hepatosplenomegaly OMIM:246400
Rh-Null, Regulator Type
Jaundice, Unconjugated hyperbilirubinemia OMIM:268150
Cocaine Intoxication
Acute kidney injury, Increased circulating lactate dehydrogenase concentration, Elevated circulat... ORPHA:90068
Serotonin Syndrome
Acute kidney injury, Hepatic failure ORPHA:43116
Microcephaly 29, Primary, Autosomal Recessive
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys OMIM:620047
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Abnormal liver parenchyma morphology,... ORPHA:456312
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, High-output c... OMIM:187300
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Short stature, Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria OMIM:268315
Livedoid Vasculopathy
Polycythemia, Pancytopenia, Ischemic stroke, Leukocytosis, Venous insufficiency, Anemia, Telangie... ORPHA:542643
Orofaciodigital Syndrome Type 3
Hamartoma of tongue, Bifid uvula, Stage 5 chronic kidney disease, Lobulated tongue ORPHA:2752
Cerebrotendinous Xanthomatosis
Cholelithiasis, Myelopathy, Abnormal circulating enzyme concentration or activity, Prolonged neon... ORPHA:909
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Gastroesophageal reflux, Hypertrophic cardiomyopathy, Patent foramen ova... ORPHA:17
Familial Adenomatous Polyposis
Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Stomach cancer, Duodenal adenocarcinoma, Du... ORPHA:733
3Q29 Microdeletion Syndrome
Gastroesophageal reflux, Pulmonary arterial hypertension, Subvalvular aortic stenosis, High palat... ORPHA:65286
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitat... OMIM:613795
Glutaryl-Coa Dehydrogenase Deficiency
Chronic kidney disease, Glutaric aciduria, Abnormal circulating enzyme concentration or activity ORPHA:25
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Ankyloglossia, Abnormal cardiac septum morphology, High palate, Patent d... ORPHA:250989
Igg4-Related Thyroid Disease
Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Pancreatic fibrosis, Abnormal pit... ORPHA:64744
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Vascular granular osmiophilic material deposition, Pseudobulbar paralysis, Stroke, Varicose veins... OMIM:125310
Meester-Loeys Syndrome
Bifid uvula, Pulmonary artery aneurysm, Aortic root aneurysm, Aortic dissection, Dilatation of th... OMIM:300989
Johanson-Blizzard Syndrome
Intrahepatic cholestasis, Colonic diverticula, Dilated cardiomyopathy, Hepatic fibrosis, Hepatic ... OMIM:243800
Elliptocytosis 1
Jaundice, Splenomegaly OMIM:611804
Ulbright-Hodes Syndrome
Abnormal penis morphology, Renal hypoplasia, Postnatal growth retardation, Cryptorchidism, Birth ... ORPHA:3404
Overhydrated Hereditary Stomatocytosis
Increased circulating lactate dehydrogenase concentration, Splenomegaly, Intermittent jaundice ORPHA:3203
Genitopatellar Syndrome
Multicystic kidney dysplasia, Anal stenosis, Malrotation of small bowel, Anteriorly placed anus, ... OMIM:606170
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneurysm, Ventricula... OMIM:620025
Costello Syndrome
Failure to thrive, Hypertrophic cardiomyopathy, Renal insufficiency, Mitral valve prolapse, Ventr... OMIM:218040
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Hepatomegaly, Pancreatic ... OMIM:616263
Neurofibroma
Intestinal bleeding, Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Abnorma... ORPHA:252183
Gaucher Disease
Splenic infarction, Aortic valve calcification, Cholelithiasis, Hepatic failure, Hepatitis, Incre... ORPHA:355
Lymphedema-Distichiasis Syndrome
Abnormality of the pulmonary vasculature, Arrhythmia, Varicose veins, Patent ductus arteriosus, C... ORPHA:33001
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Tetralogy of Fallot, Atrioventricular canal defect, Hepatosplenomegaly, Leuk... OMIM:274000
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Ankyloglossia, Annular pancreas, Cleft palate, Abnormal morphology of the great vessels ORPHA:488642
Meige Disease
Lymph node hypoplasia, Pleural effusion, Absence of lymph node germinal center, Varicose veins ORPHA:90186
Classical-Like Ehlers-Danlos Syndrome Type 2
Aortic root aneurysm, Prominent veins on trunk, Varicose veins, Cryptorchidism, Mitral valve prol... ORPHA:536532
Hereditary Hemorrhagic Telangiectasia
Cholelithiasis, Hepatic failure, Spontaneous hematomas, Tongue telangiectasia, Retinal telangiect... ORPHA:774
Alström Syndrome
Chronic kidney disease, Testicular fibrosis, Elevated gamma-glutamyltransferase level, Hepatosple... ORPHA:64
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal lung lobation, Abnormal heart morp... ORPHA:508488
Craniofacioskeletal Syndrome
Interrupted aortic arch, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosu... OMIM:300712
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Vascular dilatation, Pulmonic stenosis, Varicose veins OMIM:618343
Pmm2-Cdg
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:79318
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Dilatation of the cerebral artery, Arteria... OMIM:130050
Pseudoaminopterin Syndrome
Asplenia, High palate, Cryptorchidism, Patent foramen ovale ORPHA:221120
Perlman Syndrome
Interrupted aortic arch, Distal ileal atresia, Volvulus OMIM:267000
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Elevated circulating hepati... ORPHA:95455
Clapo Syndrome
Venous malformation, Lymphangioma, Varicose veins ORPHA:168984
Telangiectasia, Hereditary Hemorrhagic, Type 4
Arteriovenous fistulas of celiac and mesenteric vessels, Right-to-left shunt, Tongue telangiectas... OMIM:610655
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Venous malformation, Splenomegaly OMIM:612918
Niemann-Pick Disease Type C
Hepatic failure, Hepatosplenomegaly, Abnormality of the liver, Splenomegaly, Low cholesterol este... ORPHA:646
Blau Syndrome
Nephropathy, Erythema, Xerostomia, Abnormality of the liver, Stage 5 chronic kidney disease, Clea... ORPHA:90340
Leopard Syndrome 1
Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bundle branch block, Complete a... OMIM:151100
Tetraamelia Syndrome 1
Adrenal gland agenesis, Asplenia, Anal atresia, Peripheral pulmonary vessel aplasia, Cleft palate... OMIM:273395
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Ventricular septal defect, Atrial septal defect, Intracranial hemorrhage... ORPHA:163979
Alzahrani-Kuwahara Syndrome
Coronary sinus enlargement, Patent foramen ovale, Ventricular septal defect, Pulmonary artery sli... OMIM:619268
Elliptocytosis 3
Intermittent jaundice OMIM:617948
Pancreatic And Cerebellar Agenesis
Anemia, Secundum atrial septal defect, Pancreatic hypoplasia, Pancreatic aplasia OMIM:609069
Pancreatic Agenesis 2
Steatorrhea, Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia OMIM:615935
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Thoracic Outlet Syndrome
Varicose veins ORPHA:97330
Phace Syndrome
Aortic root aneurysm, Tetralogy of Fallot, Abnormal heart morphology, Abnormal cerebral artery mo... ORPHA:42775
Pierson Syndrome
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis,... OMIM:609049
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Oliguria, Hyperphosphatemia, Hepatic failure, Decreased liver function, Hypo... ORPHA:466650
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal aortic arch morphology, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonar... ORPHA:96334
Renal Nutcracker Syndrome
Dilatation of mesenteric artery, Renal artery stenosis, Vulval varicose vein, Syncope, Orthostati... ORPHA:71273
Holoprosencephaly
Gastroesophageal reflux, Tetralogy of Fallot, Median cleft palate, Abnormal aortic morphology, Ab... ORPHA:2162
Mucopolysaccharidosis Type 2
Recurrent upper respiratory tract infections, Cardiomyopathy, Abnormal heart morphology, Abnormal... ORPHA:580
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Anteriorly placed anus, Cryptorchidism, Telangiectasia, High palate OMIM:268400
Liposarcoma
Varicose veins ORPHA:69078
Aneurysm-Osteoarthritis Syndrome
Arterial dissection, Bifid uvula, Aortic dissection, Arterial tortuosity, Dilatation of the cereb... ORPHA:284984
Cardiospondylocarpofacial Syndrome
Gastroesophageal reflux, Muscular ventricular septal defect, Patent foramen ovale, Dysplastic tri... OMIM:157800
Mucopolysaccharidosis Type 2, Severe Form
Recurrent upper respiratory tract infections, Cardiomyopathy, Abnormal heart valve morphology, Ab... ORPHA:217085
Foix-Alajouanine Syndrome
Venous malformation, Arteriovenous fistula ORPHA:79093
Mowat-Wilson Syndrome
Abnormal enteric ganglion morphology, Abnormal heart morphology, Submucous cleft hard palate, Ven... OMIM:235730
Mucopolysaccharidosis Type 2, Attenuated Form
Recurrent upper respiratory tract infections, Cardiomyopathy, Abnormal heart valve morphology, Ab... ORPHA:217093
Glomuvenous Malformation
Venous malformation, Arteriovenous malformation, Gastrointestinal arteriovenous malformation ORPHA:83454
Loeys-Dietz Syndrome
Arterial dissection, Bifid uvula, Aortic dissection, Arterial tortuosity, Aortic aneurysm, Vascul... ORPHA:60030
Gitelman Syndrome
Prominent U wave, Abnormal T-wave, Pericardial effusion, Palpitations, ST segment depression, Syn... ORPHA:358
Varicose Veins
Varicose veins OMIM:192200
Hypermobile Ehlers-Danlos Syndrome
High, narrow palate, Arterial dissection, Epistaxis, Gastroesophageal reflux, Aortic root aneurys... ORPHA:285
Biliary Cirrhosis, Primary, 1
Biliary cirrhosis OMIM:109720
Charge Syndrome
Interrupted aortic arch, Gastroesophageal reflux, Tetralogy of Fallot, Aortic arch aneurysm, Abno... ORPHA:138
Vascular Ehlers-Danlos Syndrome
Cryptorchidism, Mitral valve prolapse, Abnormal intestine morphology, High, narrow palate, Pulmon... ORPHA:286
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Venous malformation, Varicose veins OMIM:613089
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplastic aortic arch ORPHA:457284
Hereditary Sensory And Autonomic Neuropathy Type 4
Chronic kidney disease, Growth delay, Bruising susceptibility, Aplasia of the sweat glands ORPHA:642
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Varicose veins OMIM:314300
Autosomal Dominant Spastic Paraplegia Type 10
Varicose veins ORPHA:100991
Pancreatic Agenesis 1
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Pancreatic aplasia OMIM:260370
Microphthalmia With Limb Anomalies
High palate, Cryptorchidism, Cleft palate, Venous insufficiency ORPHA:1106
Friedreich Ataxia 2
Congestive heart failure, Muscular subvalvular aortic stenosis, Abnormal EKG, Concentric hypertro... OMIM:601992
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Norrie Disease
Cryptorchidism, Venous insufficiency ORPHA:649

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 Invs

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 Invs.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Invsem1(IMPC)Bay Exon Deletion Mice
Invstm40361(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Invstm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Invstm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Invstm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Invstm33843(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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