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Gene: Bicc1 MGI:1933388

Gene Summary

Name:

BicC family RNA binding protein 1

Synonyms:

jcpk, Bic-C

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased locomotor activity	Bicc1^em1(IMPC)Mbp	HET	Early adult	1.43×10^-08
small kidney	Bicc1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal kidney morphology	Bicc1^em1(IMPC)Mbp	HET	Early adult	0.00
preweaning lethality, incomplete penetrance	Bicc1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal embryo turning	Bicc1^em1(IMPC)Mbp	HOM	E9.5	0.00
edema	Bicc1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal heart morphology	Bicc1^em1(IMPC)Mbp	HOM	E9.5	0.00
preweaning lethality, complete penetrance	Bicc1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal heart looping	Bicc1^em1(IMPC)Mbp	HOM	E9.5	0.00

Download data as: TSV XLS

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

80 Images

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Gross Morphology Embryo E9.5

Images

27 Images

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Gross Morphology Embryo E14.5-E15.5

Images

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

40 Images

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MicroCT E9.5

Embryo reconstruction

8 Images

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Human diseases caused by Bicc1 mutations

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

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

Human diseases associated with Bicc1 (2 diseases)
Human diseases predicted to be associated with Bicc1 (1568 diseases)

The table below shows human diseases associated to Bicc1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Renal Dysplasia, Cystic, Susceptibility To		Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal...	OMIM:601331
Autosomal Dominant Polycystic Kidney Disease		Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730

The table below shows human diseases predicted to be associated to Bicc1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect	OMIM:601322
RCAD (renal cysts and diabetes)	Abnormality of the liver, Multiple renal cysts	DECIPHER:47
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis, Situs inversus totalis	OMIM:614844
Renal Dysplasia, Cystic, Susceptibility To	Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal...	OMIM:601331
Heterotaxy, Visceral, 6, Autosomal	Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana...	OMIM:614779
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn...	OMIM:616217
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Polycystic Kidney Disease 7	Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ...	OMIM:620056
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico...	OMIM:617610
Nephronophthisis 13	Renal hypoplasia, Nephronophthisis, Intrahepatic bile duct dilatation, Stage 5 chronic kidney dis...	OMIM:614377
Nephronophthisis 16	Aortic valve stenosis, Nephronophthisis, Hypertrophic cardiomyopathy, Stage 5 chronic kidney dise...	OMIM:615382
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Multiple r...	ORPHA:2924
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Abnormal biliary tract morphology, Abnormal liver parenchyma morpho...	ORPHA:3032
Mirror Movements 3	Situs inversus totalis	OMIM:616059
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hyperechogeni...	OMIM:619902
Fallot Complex With Severe Mental And Growth Retardation	Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect	OMIM:601127
Genitopalatocardiac Syndrome	Right aortic arch, Ventricular septal defect, Renal cyst, Transposition of the great arteries, Do...	OMIM:231060
Laterality Defects, Autosomal Dominant	Situs inversus totalis, Heterotaxy	OMIM:601086
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne...	OMIM:263200
Tricuspid Atresia	Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s...	ORPHA:1209
Congenital Pseudoarthrosis Of The Clavicle	Situs inversus totalis, Dextrocardia	ORPHA:66630
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
Atrioventricular Septal Defect, Susceptibility To, 2	Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran...	OMIM:606217
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki...	OMIM:618270
Nephronophthisis 20	Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren...	OMIM:617271
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Dextrocardia	OMIM:618948
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst, Polycystic liver disease, Abdominal distention	OMIM:174050
Congenital Pancreatic Cyst	Vomiting, Anorexia, Abdominal pain, Pancreatitis, Abdominal distention, Jaundice	ORPHA:313906
Ciliary Dyskinesia, Primary, 40	Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t...	OMIM:618300
Hanac Syndrome	Hematuria, Multiple renal cysts, Renal insufficiency	ORPHA:73229
Renal-Hepatic-Pancreatic Dysplasia 1	Cholestasis, Neonatal death, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Bile duct prol...	OMIM:208540
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia, Polycystic liver disease, Polysplenia	OMIM:211890
Bardet-Biedl Syndrome 8	Hypospadias, Situs inversus totalis, Renal dysplasia	OMIM:615985
Right Atrial Isomerism	Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Tetra...	OMIM:208530
Heterotaxy, Visceral, 8, Autosomal	Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def...	OMIM:617205
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr...	OMIM:617805
Heterotaxy, Visceral, 7, Autosomal	Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve...	OMIM:616749
Heterotaxy, Visceral, 4, Autosomal	Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ...	OMIM:613751
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm...	OMIM:602347
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal...	OMIM:600803
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Elevated circulating hepatic transaminase concentration, Glycosuria, Renal tubu...	OMIM:614817
Aa Amyloidosis	Chronic kidney disease, Nephropathy, Acute kidney injury, Renal amyloidosis, Vomiting, Malnutriti...	ORPHA:85445
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci...	OMIM:210500
Inflammatory Pseudotumor Of The Liver	Vomiting, Elevated circulating aspartate aminotransferase concentration, Biliary tract abnormalit...	ORPHA:90003
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o...	OMIM:217095
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Heterotaxy, Visceral, 2, Autosomal	Bilateral superior vena cava, Left atrial isomerism, Abdominal situs inversus, Atrioventricular c...	OMIM:605376
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,...	OMIM:619702
Wolman Disease	Vomiting, Acute hepatic failure, Splenomegaly, Abdominal distention, Hepatomegaly	OMIM:620151
Congenital Heart Defects, Multiple Types, 6	Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ...	OMIM:613854
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Abdominal situs inversus, Situs inversus totalis, Dextrocardia	OMIM:619607
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Port...	OMIM:617394
Cayler Cardiofacial Syndrome	Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect	OMIM:125520
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Nephropathy, Chronic kidney disease, Cholestatic liver disease, Elevated circulating hepatic tran...	OMIM:602114
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio...	ORPHA:65682
Ciliary Dyskinesia, Primary, 52	Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Abdominal situs ...	OMIM:620570
Hyperbiliverdinemia	Cholestasis, Cholelithiasis, Green urine, Decreased liver function	OMIM:614156
Meckel Syndrome, Type 3	Malformation of the hepatic ductal plate, Hepatic fibrosis, Multicystic kidney dysplasia, Hepatom...	OMIM:607361
Atrial Septal Defect 2	Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat...	OMIM:607941
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi...	OMIM:617912
Vitamin B12-Responsive Methylmalonic Acidemia	Nausea and vomiting, Renal insufficiency, Hyperammonemia, Lethargy, Hepatomegaly	ORPHA:28
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile...	ORPHA:731
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Gcgr-Related Hyperglucagonemia	Abdominal pain, Cholelithiasis, Neoplasm of the pancreas, Abnormal biliary tract morphology	ORPHA:438274
Senior-Loken Syndrome 8	Nephronophthisis, Intrahepatic bile duct dilatation, Stage 5 chronic kidney disease, Hepatic cyst...	OMIM:616307
Nephronophthisis-Like Nephropathy 1	Nephronophthisis, Tubular basement membrane disintegration, Hyperechogenic kidneys, Stage 5 chron...	OMIM:613159
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Diarrhea, Hematochezia, Hep...	OMIM:613812
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Chronic diarrhea, Splenomegaly, Enlarged kidney	OMIM:615285
Ciliary Dyskinesia, Primary, 36, X-Linked	Situs inversus totalis	OMIM:300991
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	ORPHA:79302
Ciliary Dyskinesia, Primary, 3	Situs inversus totalis	OMIM:608644
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Hypoplastic left heart, Unilateral renal agenesis, Bilateral renal agenesis, Anomalous origin of ...	OMIM:618845
Trehalase Deficiency	Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain	ORPHA:103909
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Incre...	ORPHA:369
Hyperlysinuria With Hyperammonemia	Hyperlysinuria, Malabsorption, Hyperammonemia, Lethargy, Hyperlysinemia, Dibasicaminoaciduria	OMIM:238750
Mirizzi Syndrome	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Vomiting, Abdominal dist...	ORPHA:521219
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Situs inversus totalis, Renal...	OMIM:613095
Ciliary Dyskinesia, Primary, 37	Situs inversus totalis, Right aortic arch, Dextrocardia	OMIM:617577
Ketamine-Induced Biliary Dilatation	Abdominal pain, Dysuria, Abnormal biliary tract morphology	ORPHA:293807
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Situs inversus totalis	OMIM:620032
Nephronophthisis 3	Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu...	OMIM:604387
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep...	OMIM:613496
Ciliary Dyskinesia, Primary, 17	Situs inversus totalis, Dextrocardia	OMIM:614679
16P13.11 Microduplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ...	ORPHA:261243
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Stage 5 chronic...	OMIM:267010
Ciliary Dyskinesia, Primary, 7	Situs inversus totalis, Dextrocardia	OMIM:611884
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Papillary renal cell carci...	OMIM:145001
Ventricular Septal Defect 1	Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe...	OMIM:614429
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Lipedema	Edema	OMIM:614103
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Situs inversus totalis,...	OMIM:602088
Nephronophthisis 9	Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts	OMIM:613824
Ciliary Dyskinesia, Primary, 29	Situs inversus totalis	OMIM:615872
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Acute kidney injury, Vomiting, Decreased glomerular filtrat...	ORPHA:94088
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Renal cyst, Feeding difficulties in infancy, Decreased liver function	OMIM:614870
Combined Oxidative Phosphorylation Deficiency 52	Aminoaciduria, Anorexia, Elevated circulating aspartate aminotransferase concentration, Hyperglyc...	OMIM:619386
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati...	OMIM:618061
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Hepatic cysts, Decreased liver function	OMIM:600666
Branchiootorenal Syndrome 2	Renal insufficiency, Renal dysplasia	OMIM:610896
Lipoprotein Glomerulopathy	Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity	OMIM:611771
Chronic Diarrhea Due To Glucoamylase Deficiency	Vomiting, Malabsorption, Abnormal small intestinal mucosa morphology, Nausea, Abdominal distentio...	ORPHA:103907
Glomerulopathy With Fibronectin Deposits 2	Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis...	OMIM:601894
Campomelia, Cumming Type	Multicystic kidney dysplasia, Death in infancy, Multiple renal cysts, Hepatomegaly, Pancreatic cy...	ORPHA:1318
Lethal Infantile Mitochondrial Myopathy	Lethargy, Renal insufficiency, Fatal liver failure in infancy	ORPHA:254857
Ciliary Dyskinesia, Primary, 38	Situs inversus totalis, Dextrocardia	OMIM:618063
Renal Failure, Progressive, With Hypertension	Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i...	OMIM:161900
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Protoporphyria, Erythropoietic, X-Linked	Cholelithiasis, Elevated circulating hepatic transaminase concentration	OMIM:300752
Primary Effusion Lymphoma	Abdominal pain, Abnormal peritoneum morphology, Abdominal distention	ORPHA:48686
Glomerulopathy With Fibronectin Deposits 1	Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency...	OMIM:137950
Ciliary Dyskinesia, Primary, 24	Situs inversus totalis	OMIM:615481
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619662
Bardet-Biedl Syndrome 10	Renal cyst, Renal insufficiency	OMIM:615987
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Horseshoe kidney, Crossed fus...	ORPHA:3097
Congenital Heart Defects, Multiple Types, 4	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect...	OMIM:615779
Total Anomalous Pulmonary Venous Return 1	Total anomalous pulmonary venous return, Dextrocardia	OMIM:106700
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Vomiting, Cholesta...	ORPHA:53035
Thiamine-Responsive Megaloblastic Anemia Syndrome	Aminoaciduria, Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Stroke, Atrial ...	OMIM:249270
Congenital Heart Defects, Multiple Types, 9	Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def...	OMIM:620294
Ciliary Dyskinesia, Primary, 10	Situs inversus totalis	OMIM:612518
Primary Peritoneal Carcinoma	Nausea and vomiting, Peritonitis, Constipation, Abdominal distention, Abdominal pain	ORPHA:168829
Ciliary Dyskinesia, Primary, 23	Situs inversus totalis	OMIM:615451
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Splenomegaly	OMIM:224100
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia, Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Ren...	ORPHA:54370
Ciliary Dyskinesia, Primary, 35	Abdominal situs ambiguus, Situs inversus totalis	OMIM:617092
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Cerebral berry aneurysm, Mitral valve prolapse, Polycystic ki...	OMIM:173900
Renal-Hepatic-Pancreatic Dysplasia 2	Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Hepatic cysts, Truncu...	OMIM:615415
Meckel Syndrome, Type 5	Renal cyst, Bile duct proliferation	OMIM:611561
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Hydronephrosis, Persistent left superior vena cava, Transposition ...	OMIM:314390
Meckel Syndrome, Type 6	Hepatic fibrosis, Aplasia of the bladder, Horseshoe kidney, Absent gallbladder, Hepatic cysts, Re...	OMIM:612284
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Dextrocardia, Ventricular septal defect	OMIM:616037
Dubin-Johnson Syndrome	Jaundice, Biliary tract abnormality	OMIM:237500
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Intrahepatic cholestasis, Cholelithiasis, Jaundice	OMIM:605479
Diarrhea 8, Secretory Sodium, Congenital	Inflammation of the large intestine, Secretory diarrhea, Abdominal distention	OMIM:616868
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Renal insufficiency, Hyperammonemia, Splenomegaly, Nausea and vomiting, Lethargy, Pancreatitis, A...	ORPHA:79312
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen...	OMIM:613027
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia	OMIM:620085
C3 Glomerulopathy 3	Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes...	OMIM:614809
Ciliary Dyskinesia, Primary, 13	Situs inversus totalis	OMIM:613193
Ciliary Dyskinesia, Primary, 16	Situs inversus totalis	OMIM:614017
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Partial Atrioventricular Septal Defect	Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement...	ORPHA:1330
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Nausea and vomiting, Lethargy, Pa...	ORPHA:289916
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Increased level of methylsuccinic acid in urine...	ORPHA:26792
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Diarrhea, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Developmental And Epileptic Encephalopathy 102	Situs inversus totalis, Atrial septal defect	OMIM:619881
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Situs inversus totalis, Right aortic arch, Patent foramen ovale, Cardio...	OMIM:620642
Hypercalcemia, Infantile, 1	Nephrocalcinosis, Vomiting, Medullary nephrocalcinosis, Nephrolithiasis, Lethargy, Hypercalciuria...	OMIM:143880
Pancreatic Colipase Deficiency	Cholelithiasis, Exocrine pancreatic insufficiency, Steatorrhea, Chronic diarrhea, Fat malabsorption	ORPHA:309108
Cirrhosis, Familial	Increased level of L-fucose in urine, Biliary cirrhosis, Micronodular cirrhosis, Lethargy, Cirrho...	OMIM:215600
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Malabsorpti...	ORPHA:79301
Indomethacin Embryofetopathy	Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Renal insufficiency, Ventricular septa...	ORPHA:1909
Congenital Sucrase-Isomaltase Deficiency	Vomiting, Diarrhea, Abdominal colic, Gastroesophageal reflux, Nausea, Constipation, Abdominal dis...	ORPHA:35122
Mitochondrial Complex I Deficiency, Nuclear Type 3	Hepatomegaly, Lethargy, Feeding difficulties, Episodic vomiting	OMIM:618224
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Elevated circulating branched chain amino acid...	ORPHA:2394
Hepatic Veno-Occlusive Disease	Elevated circulating hepatic transaminase concentration, Increased total bilirubin, Renal insuffi...	ORPHA:890
Hereditary Fructose Intolerance	Chronic kidney disease, Hypermagnesemia, Diarrhea, Vomiting, Renal insufficiency, Hyperuricemia, ...	ORPHA:469
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Unbalanced atrioventricular canal defect, Dextrotransposition of the great arteries, Ventricular ...	OMIM:619657
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Cirrhosis, Decreased liver function	ORPHA:79278
Ciliary Dyskinesia, Primary, 25	Situs inversus totalis, Dextrocardia	OMIM:615482
Intestinal Dysmotility Syndrome	Decreased intestinal transit time, Diarrhea, Feeding difficulties, Abdominal distention, High pal...	OMIM:620045
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Hepatic fibrosis, Nephritis, Renal insufficiency, Death in infancy, Prote...	OMIM:208500
Heterotaxy, Visceral, 5, Autosomal	Total anomalous pulmonary venous return, Renal hypoplasia, Abdominal situs inversus, Ureteral ste...	OMIM:270100
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe...	OMIM:618528
Ciliary Dyskinesia, Primary, 18	Abdominal situs ambiguus, Situs inversus totalis	OMIM:614874
Ciliary Dyskinesia, Primary, 27	Situs inversus totalis	OMIM:615504
Caroli Syndrome	Hypersplenism, Congenital hepatic fibrosis, Cirrhosis, Abnormal ductus choledochus morphology, Ab...	ORPHA:480520
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Hepatic periporta...	OMIM:231680
Isolated Biliary Atresia	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun...	ORPHA:30391
Congenitally Uncorrected Transposition Of The Great Arteries	Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi...	ORPHA:860
Ciliary Dyskinesia, Primary, 51	Situs inversus totalis	OMIM:620438
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Diarrhea, Lipid accumulation in hepatocytes, Feeding difficulties in infancy, Elevated circulatin...	OMIM:608836
Severe Canavan Disease	Gastroesophageal reflux, Vomiting, Oral-pharyngeal dysphagia, Nasogastric tube feeding, Gastrosto...	ORPHA:314911
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Ketonuria, Diarrhea, Dicarboxylic acidur...	OMIM:255120
Marfanoid Habitus With Situs Inversus	Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Persistent left superior ven...	OMIM:609008
Renal Tubular Dysgenesis	Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Tetralogy of Fallot, Multiple renal cysts	ORPHA:3033
Liver Disease, Severe Congenital	Diarrhea, Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenici...	OMIM:619991
Fetal Trimethadione Syndrome	Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Atrial septa...	ORPHA:1913
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Gastroesophageal reflux, Hyperlipidemia, Renal insufficiency, Congenital nephrot...	OMIM:256300
Ciliary Dyskinesia, Primary, 9	Situs inversus totalis	OMIM:612444
Ciliary Dyskinesia, Primary, 28	Situs inversus totalis	OMIM:615505
Dextrocardia	Abnormality of abdominal situs, Abnormal heart morphology, Abnormality of the ureter, Situs inver...	ORPHA:1666
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Vomiting, Elevated circulating creatinine concentration, Hepatic steatosis, Incr...	OMIM:617872
Bardet-Biedl Syndrome 17	Stage 5 chronic kidney disease, Situs inversus totalis, Renal cyst, Polyuria, Dextrocardia, Micro...	OMIM:615994
Ciliary Dyskinesia, Primary, 2	Situs inversus totalis, Dextrocardia	OMIM:606763
Nephrotic Syndrome, Type 7	Hypoalbuminemia, Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kid...	OMIM:615008
Whim Syndrome 2	Tetralogy of Fallot	OMIM:619407
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect	OMIM:619608
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Aortic Valve Disease 1	Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st...	OMIM:109730
Tetralogy Of Fallot	Tetralogy of Fallot	OMIM:187500
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Ciliary Dyskinesia, Primary, 32	Situs inversus totalis	OMIM:616481
Adiposis Dolorosa	Depression, Abdominal distention, Constipation	OMIM:103200
Medullary cystic kidney disease 2	Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedu...	OMIM:603860
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Glucose-Galactose Malabsorption	Vomiting, Diarrhea, Malnutrition, Hyperactive bowel sounds, Renal insufficiency, Nephrolithiasis,...	ORPHA:35710
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits	ORPHA:69063
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne...	OMIM:612925
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,...	OMIM:310468
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Situs inversus totalis	OMIM:620197
Joubert Syndrome 6	Hepatic fibrosis, Stage 5 chronic kidney disease, Bile duct proliferation, Nephronophthisis	OMIM:610688
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys...	OMIM:610199
Acrocephalopolydactyly	Abnormal renal morphology, Hepatosplenomegaly, Protuberant abdomen	ORPHA:221054
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Decreased liver function, Renal insufficiency, Renal tubular acidosis, Hepatic ...	OMIM:614922
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Polycystic kidney dysplasia	OMIM:614859
Bardet-Biedl Syndrome 18	Stage 5 chronic kidney disease, Renal insufficiency	OMIM:615995
Adenine Phosphoribosyltransferase Deficiency	Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d...	OMIM:614723
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Vomiting, Hyperammonemia, Elevated circu...	OMIM:600649
Central Diabetes Insipidus	Diarrhea, Depression, Anorexia, Nausea and vomiting, Hyponatremia, Lethargy, Nocturia	ORPHA:178029
Liver Failure, Infantile, Transient	Elevated circulating hepatic transaminase concentration, Abdominal distention, Vomiting, Dicarbox...	OMIM:613070
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Left superior ve...	OMIM:306955
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Abnormal inferior...	ORPHA:244
Coach Syndrome 3	Nephronophthisis, Portal fibrosis, Stage 5 chronic kidney disease, Renal insufficiency, Renal int...	OMIM:619113
Senior-Loken Syndrome 6	Stage 5 chronic kidney disease	OMIM:610189
Bardet-Biedl Syndrome 16	Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, Renal dysplasia	OMIM:615993
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr...	OMIM:232200
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys	OMIM:613885
Ciliary Dyskinesia, Primary, 12	Situs inversus totalis	OMIM:612650
Von Hippel-Lindau Syndrome	Pheochromocytoma, Multiple renal cysts, Renal cell carcinoma, Hepatic hemangioma, Pancreatic cyst...	OMIM:193300
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Diarrhea, Micronodular cirrho...	OMIM:619849
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos...	OMIM:308990
Meacham Syndrome	Hypoplastic left heart, Tetralogy of Fallot, Horseshoe kidney, Scimitar anomaly, Right aortic arc...	OMIM:608978
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts, Hyperuricemia	OMIM:609886
Testicular Anomalies With Or Without Congenital Heart Disease	Tetralogy of Fallot, Perineal hypospadias, Corpus cavernosum hypoplasia, Microphallus	OMIM:615542
Hirschsprung Disease, Susceptibility To, 1	Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio...	OMIM:142623
Hypoglossia With Situs Inversus	Situs inversus totalis	OMIM:612776
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Elevated circulating creatinine concentration, Abnormal glomerular mesangium...	ORPHA:567544
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Situs inversus totalis	OMIM:615434
Volvulus Of Midgut	Volvulus, Intestinal malrotation, Neonatal intestinal obstruction, Constipation, Abdominal disten...	OMIM:193250
Ciliary Dyskinesia, Primary, 14	Situs inversus totalis, Heterotaxy	OMIM:613807
Short Stature-Wormian Bones-Dextrocardia Syndrome	Midshaft hypospadias, Patent ductus arteriosus, Dextrocardia, Renal hypoplasia/aplasia	ORPHA:2863
Meckel Syndrome, Type 2	Renal cyst, Bile duct proliferation	OMIM:603194
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria...	OMIM:616002
Alveolar Echinococcosis	Biliary cirrhosis, Decreased liver function, Abnormal mesentery morphology, Portal hypertension, ...	ORPHA:284
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote...	OMIM:603965
Wolman Disease	Hepatic failure, Malnutrition, Nausea and vomiting, Splenomegaly, Abdominal distention, Hepatomeg...	ORPHA:75233
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ...	ORPHA:90301
Scimitar Syndrome	Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, At...	ORPHA:185
Intellectual Developmental Disorder, X-Linked 112	Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Horseshoe kidney, Pyelonephritis, Ve...	OMIM:301111
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Gastroesophageal reflux, Dica...	OMIM:201475
Small Bowel Atresia	Vomiting, Intestinal malrotation, Jejunal atresia, Intestinal hypoplasia, Abdominal distention, F...	ORPHA:1201
Ciliary Dyskinesia, Primary, 20	Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ...	OMIM:615067
Vitamin B12-Unresponsive Methylmalonic Acidemia	Renal insufficiency, Hyperammonemia, Nausea and vomiting, Lethargy, Pancreatitis, Hepatomegaly	ORPHA:27
Diarrhea 12, With Microvillus Atrophy	Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PA...	OMIM:619445
Thomas Syndrome	Hypoplastic left heart, Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3316
22Q11.2 Duplication Syndrome	Hypoplastic left heart, Interrupted aortic arch, Tetralogy of Fallot, Ventricular septal defect, ...	ORPHA:1727
Cystinuria	Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu...	OMIM:220100
Rhyns Syndrome	Hypopituitarism, Abnormality of the liver, Nephronophthisis, Multicystic kidney dysplasia	ORPHA:140976
Xanthinuria, Type Ii	Hypouricemia, Increased circulating hypoxanthine concentration, Increased urinary hypoxanthine le...	OMIM:603592
Ciliary Dyskinesia, Primary, 22	Situs inversus totalis, Dextrocardia	OMIM:615444
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
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Nephrocalcinosis, Hepatosplenomegaly, Distal renal tubular acidosis, Hypokalemia, Lethargy, Anore...	OMIM:611590
Ciliary Dyskinesia, Primary, 26	Situs inversus totalis	OMIM:615500
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612924
Dihydrolipoamide Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Lethargy, Hepa...	OMIM:246900
Megabladder, Congenital	Hyperechogenic kidneys, Left ventricular noncompaction cardiomyopathy, Stage 5 chronic kidney dis...	OMIM:618719
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure	OMIM:177000
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r...	OMIM:620049
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Lethargy, Poor suck, Dicarboxylic aciduria	OMIM:615026
Diabetic Embryopathy	Tetralogy of Fallot, Abnormal aortic morphology, Renal hypoplasia/aplasia, Ventricular septal def...	ORPHA:1926
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia, Multinodular goiter	ORPHA:2091
Nail-Patella-Like Renal Disease	Proteinuria, Glomerulopathy, Renal insufficiency, Microscopic hematuria	ORPHA:2613
Camos Syndrome	Nephrotic syndrome, Renal insufficiency	ORPHA:83472
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas...	ORPHA:97362
Dubin-Johnson Syndrome	Abnormal urinary color, Abnormality of the liver, Biliary tract abnormality, Abdominal pain, Hepa...	ORPHA:234
Asherman Syndrome	Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O...	ORPHA:137686
Bardet-Biedl Syndrome 14	Renal insufficiency	OMIM:615991
Porphyria Due To Ala Dehydratase Deficiency	Depression, Diarrhea, Purple urine, Increased urinary porphobilinogen, Abnormal circulating porph...	ORPHA:100924
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria,...	OMIM:614131
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, Jaundice	OMIM:613470
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Diarrhea, Vomiting, Dicarboxylic aciduria, Elevate...	OMIM:212140
Glycine Encephalopathy 1	Hyperglycinuria, Lethargy, Hyperglycinemia	OMIM:605899
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas...	ORPHA:1414
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Anorexia, Cholecystitis, Intermittent jaundice, Biliary tract obstruction...	ORPHA:100086
Fanconi-Bickel Syndrome	Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Hepatic failure, Abdominal distention, ...	ORPHA:2088
Criss-Cross Heart	Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th...	ORPHA:1461
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cryptorchidism, Death in infancy, Neonatal death, Hepatomegaly, Ectopic kidney, Cystic renal dysp...	OMIM:613730
Lambert Syndrome	Jaundice, Intrahepatic biliary atresia, Hypospadias	OMIM:245550
Axial Osteomalacia	Renal cyst, Polycystic liver disease	OMIM:109130
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Elevated circulating hepatic transaminase concentration, ...	ORPHA:42
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Hypomagnesemia, Hyperechogenic kidneys, Hyperuricemia, Hyponatremia, Prot...	OMIM:613845
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Elevated circulating hep...	OMIM:232220
Ciliary Dyskinesia, Primary, 44	Heterotaxy	OMIM:618781
Tyrosinemia, Type I	Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Gastrointestinal hemorrhage...	OMIM:276700
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, C...	ORPHA:84085
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Diarrhea, Vomiting, Hyperammonemia, Acute hyperammonemia, Lethargy, Hyperglutaminemia, Hyperalani...	ORPHA:927
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Chronic kidney disease, Nephropathy, Elevated circulating cre...	OMIM:617056
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hyperglycinuria, Decreased circulating carnitine concentration, Elevated circulating hepatic tran...	OMIM:201450
Fanconi-Bickel Syndrome	Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypophosphatemia, Elev...	OMIM:227810
Crigler-Najjar Syndrome Type 1	Prolonged neonatal jaundice, Abnormality of the liver, Biliary tract abnormality	ORPHA:79234
Glucose/Galactose Malabsorption	Glycosuria, Hyperactive bowel sounds, Malabsorption, Abdominal distention, Chronic diarrhea	OMIM:606824
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre...	ORPHA:93110
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Protuberant abdomen, Enlarged kidney, Nephroblastoma	OMIM:618272
Meckel Syndrome, Type 4	Renal cyst, Bile duct proliferation	OMIM:611134
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Multiple renal cysts, Pancreatic cy...	ORPHA:464329
Desmoplastic Small Round Cell Tumor	Abdominal distention, Ileus, Nausea and vomiting, Testicular neoplasm, Abnormal peritoneum morpho...	ORPHA:83469
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency	OMIM:607832
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Diarrhea, Vomiting, Methylmalonic aciduria, Stage 5 chronic kidney disease, Hyperglycinemia, Hype...	OMIM:251000
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:614199
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased liver function, Acute hepatitis, Hyperornithinemia, Hyperammonemia, Lethargy, Protein a...	OMIM:238970
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hyperlipidem...	OMIM:600995
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Vomiting, Acu...	OMIM:210200
Diaphanospondylodysostosis	Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis, Protuberant abdomen, Enlarged kidney, Cy...	OMIM:608022
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva...	OMIM:615751
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect	OMIM:617992
Citrullinemia, Classic	Vomiting, Oroticaciduria, Hyperammonemia, Hyperglutaminemia, Lethargy, Cirrhosis, Hypoargininemia...	OMIM:215700
Ovarian Fibroma	Abnormality of the ovary, Ovarian fibroma, Peritonitis, Mesenteric cyst, Abdominal distention, Ab...	ORPHA:314473
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Malnutrition, Malabsorption, Gastrointestinal dysmotility, Constip...	OMIM:613662
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral artery hypoplasia, Aplasia of posterior communicating artery, Situs inversus totalis, N...	OMIM:613686
Congenital Short Bowel Syndrome	Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Intestinal mal...	OMIM:615237
Fanconi Anemia, Complementation Group O	Stage 5 chronic kidney disease, Cryptorchidism, Death in infancy, Neonatal death, Hydronephrosis,...	OMIM:613390
Alagille Syndrome 2	Cholestatic liver disease, Renal hypoplasia, Cholestasis, Renal insufficiency, Renal tubular acid...	OMIM:610205
Thoraco-Abdominal Enteric Duplication	Abnormal tricuspid valve morphology, Dextrocardia	ORPHA:1759
Visceral Myopathy 1	Microcolon, Vomiting, Diarrhea, Urinary retention, Megacystis, Intestinal pseudo-obstruction, Mal...	OMIM:155310
Adenine Phosphoribosyltransferase Deficiency	Chronic kidney disease, Acute kidney injury, Oliguria, Abdominal colic, Urinary retention, Recurr...	ORPHA:976
Fibronectin Glomerulopathy	Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glom...	ORPHA:84090
Double Outlet Right Ventricle	Hypoplastic left heart, Tetralogy of Fallot, Heterotaxy, Truncus arteriosus, Ventricular septal d...	ORPHA:3426
Cap Polyposis	Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Abdominal distention, Abdominal pain, C...	ORPHA:160148
Intellectual Developmental Disorder, Autosomal Dominant 66	Cerebral cavernous malformation, Secundum atrial septal defect, Aortic root aneurysm, Transpositi...	OMIM:619910
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
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Hyperuricemia,...	OMIM:162000
Nephrotic Syndrome, Type 17	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:618176
Early Myoclonic Encephalopathy	Lethargy, Dysphagia, Feeding difficulties, Poor suck	ORPHA:1935
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc...	OMIM:619468
Nephrotic Syndrome, Type 15	Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5...	OMIM:617609
Nephrotic Syndrome, Type 9	Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage ...	OMIM:615573
Ciliary Dyskinesia, Primary, 19	Situs inversus totalis	OMIM:614935
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:616032
Dihydropyrimidine Dehydrogenase Deficiency	Lethargy, Uraciluria, Elevated urinary dihydrothymine level	OMIM:274270
Urofacial Syndrome 2	Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro...	OMIM:615112
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A...	ORPHA:1686
Dihydropyrimidinase Deficiency	Elevated circulating thymine concentration, Elevated urinary thymine level, Elevated circulating ...	OMIM:222748
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Citrullinemia Type Ii	Hypoalbuminemia, Mania, Hepatic fibrosis, Enuresis, Elevated circulating hepatic transaminase con...	ORPHA:247585
Hyperphenylalaninemia, Bh4-Deficient, B	Decreased urinary neopterin level, Feeding difficulties, Elevated urinary sulfatide level, Lethar...	OMIM:233910
Hjv Or Hamp-Related Hemochromatosis	Elevated circulating hepatic transaminase concentration, Increased circulating ferritin concentra...	ORPHA:79230
Preeclampsia	Chronic kidney disease, Acute kidney injury, Elevated circulating hepatic transaminase concentrat...	ORPHA:275555
Ritscher-Schinzel Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Hy...	OMIM:220210
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Renal tubular acidosis,...	ORPHA:156
Thoracoabdominal Syndrome	Renal agenesis, Transposition of the great arteries, Ectopia cordis, Hypospadias, Patent ductus a...	OMIM:313850
Mitochondrial Neurogastrointestinal Encephalomyopathy	Diarrhea, Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Vomit...	ORPHA:298
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy, Anorexia	ORPHA:79283
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c...	OMIM:617156
Maple Syrup Urine Disease, Type Ia	Elevated circulating branched chain amino acid concentration, Vomiting, Increased level of hippur...	OMIM:248600
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s...	OMIM:616893
Ciliary Dyskinesia, Primary, 15	Situs inversus totalis	OMIM:613808
Hemochromatosis, Type 2A	Increased circulating iron concentration, Increased circulating ferritin concentration, Splenomeg...	OMIM:602390
Complement Factor H Deficiency	Thickened glomerular basement membrane, Chronic kidney disease, Hematuria, Glomerular subendothel...	OMIM:609814
Nephronophthisis	Renal insufficiency	ORPHA:655
Peritoneal Cystic Mesothelioma	Abdominal pain, Peritonitis, Constipation, Abdominal distention	ORPHA:168816
Igg4-Related Retroperitoneal Fibrosis	Acute kidney injury, Elevated circulating creatinine concentration, Unilateral renal hypoplasia, ...	ORPHA:49041
Ppoma	Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct...	ORPHA:97278
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aor...	ORPHA:99050
Nephronophthisis 7	Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis	OMIM:611498
Dent Disease 2	Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig...	OMIM:300555
Aminopterin/Methotrexate Embryofetopathy	Tetralogy of Fallot, Pulmonary artery atresia, Situs inversus totalis, Ventricular septal defect	ORPHA:1908
Retinitis Pigmentosa 59	Elevated circulating hepatic transaminase concentration, Renal insufficiency, Cryptorchidism, Hep...	OMIM:613861
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan...	OMIM:603471
Nephrosialidosis	Pericardial effusion, Nephropathy, Nephrotic syndrome, Renal insufficiency	OMIM:256150
Alport Syndrome 3B, Autosomal Recessive	Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur...	OMIM:620536
Congenital Disorder Of Glycosylation, Type Ib	Hepatic fibrosis, Hepatic failure, Proximal tubulopathy, Diarrhea, Vomiting, Renal cyst, Cirrhosi...	OMIM:602579
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, C...	ORPHA:79303
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Splenomegaly, Cholelithiasis, Jaundice, Cholecystitis	OMIM:235700
Homocystinuria Without Methylmalonic Aciduria	Lethargy, Vomiting	ORPHA:622
Recombinant Chromosome 8 Syndrome	Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Double outlet right ventricle, At...	OMIM:179613
Pancreatoblastoma	Vomiting, Diarrhea, Pancreatic calcification, Abdominal pain, Abdominal distention, Jaundice	ORPHA:677
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Inflammation of the large intestine, Elevated circulating hepatic tran...	ORPHA:562639
Nephrotic Syndrome, Type 4	Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero...	OMIM:256370
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Renal insufficiency, Splenomegaly, Hematuria, Cardiomegaly, A...	OMIM:603903
Argininosuccinic Aciduria	Aminoaciduria, Hepatic fibrosis, Vomiting, Oroticaciduria, Elevated circulating aspartate aminotr...	OMIM:207900
Ciliary Dyskinesia, Primary, 5	Situs inversus totalis	OMIM:608647
Primary Hepatic Neuroendocrine Carcinoma	Elevated circulating hepatic transaminase concentration, Diarrhea, Abdominal distention, Anorexia...	ORPHA:100085
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Megacystis, Recurrent urinary tract infections, Nephrolithiasis, Abdominal distention, Hypoperist...	OMIM:619365
Infantile Liver Failure Syndrome 2	Elevated circulating hepatic transaminase concentration, Vomiting, Acute hepatic failure, Hyperam...	OMIM:616483
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Homocystinuria, Diarrhea, Vomiting, Methylmalonic aciduria, Hypomethioninemia, Lethargy, Hyperhom...	OMIM:250940
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Diarrhea, Incr...	OMIM:278000
Nephronophthisis 18	Thickened glomerular basement membrane, Nephronophthisis, Portal fibrosis, Cholestasis, Stage 5 c...	OMIM:615862
Thrombotic Thrombocytopenic Purpura, Hereditary	Abnormal renal physiology, Elevated circulating creatinine concentration, Proteinuria, Increased ...	OMIM:274150
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Chronic kidney disease, Depression, Stage 5 chronic kidn...	ORPHA:94059
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ...	OMIM:143400
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Splenomegaly, Hepatomegaly, Jaundice, Hemoglobinuria	OMIM:194380
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Diarrhea, Renal insufficiency, Hematuria, Proteinuria, Decreased serum creat...	ORPHA:54057
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Splenomegaly	OMIM:182900
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cirrhosis, Hepatomegaly, Jau...	OMIM:301068
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Situs inversus totalis	OMIM:614833
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Acute kid...	ORPHA:567548
Fructose Intolerance, Hereditary	Hyperbilirubinemia, Hepatic steatosis, Hypophosphatemia, Cirrhosis, Proximal renal tubular acidos...	OMIM:229600
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Diarrhea, Abnormal urinary electrolyte concentration, Hepatosplenomegaly, Intestinal...	ORPHA:85450
Secondary Short Bowel Syndrome	Diarrhea, Vomiting, Volvulus, Malnutrition, Cholestasis, Malabsorption, Villous atrophy, Abnormal...	ORPHA:95427
Combined Oxidative Phosphorylation Deficiency 2	Lethargy, Elevated circulating hepatic transaminase concentration, Feeding difficulties in infanc...	OMIM:610498
Agnathia-Otocephaly Complex	Situs inversus totalis, Secundum atrial septal defect	OMIM:202650
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricemia, Hyperuri...	ORPHA:411536
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran...	ORPHA:64743
Methylmalonic Acidemia With Homocystinuria	Lethargy, Feeding difficulties	ORPHA:26
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial...	ORPHA:216694
Complement Component 3 Deficiency, Autosomal Recessive	Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis	OMIM:613779
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Diarrhea, Vomiting, Decreased liver function, Cholestasis, Elevated circulating ...	OMIM:608104
Propionic Acidemia	Hyperglycinuria, Vomiting, Increased level of hippuric acid in urine, Hyperglycinemia, Hyperammon...	OMIM:606054
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated circulating hepatic transaminase concentration, Hyperprolinemia, Cardiomegaly, Lethargy,...	OMIM:619064
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia, Lethargy, Constipation, Feeding difficulties in infancy, Prolonged n...	ORPHA:95717
Athyreosis	Macroglossia, Constipation, Feeding difficulties, Abdominal distention	ORPHA:95713
Malaria	Elevated circulating C-reactive protein concentration, Acute kidney injury, Hyperbilirubinemia, N...	ORPHA:673
Developmental And Epileptic Encephalopathy 92	Lethargy, Feeding difficulties	OMIM:617829
Chylomicron Retention Disease	Diarrhea, Vomiting, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, A...	ORPHA:71
Malignant Peritoneal Mesothelioma	Abdominal pain, Peritonitis, Ileus, Abdominal distention	ORPHA:168811
Beta-Thalassemia	Hepatomegaly, Splenomegaly, Cholelithiasis, Hepatitis	ORPHA:848
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cholelithiasis, Pancreatic hypoplasia, Cryptorchidism, Gastrostomy tube feeding in infancy, Hydro...	ORPHA:83617
Truncus Arteriosus	Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At...	ORPHA:3384
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated circulating hepatic transaminase concentration, Ketonuria, Glycosuria, Hyperlipidemia, L...	ORPHA:2089
Iga Nephropathy, Susceptibility To, 2	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria	OMIM:613944
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Splenomegaly, Cholecystitis, Hepatomegaly, Jaundice	OMIM:266200
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Eleva...	ORPHA:71212
Glutaric Acidemia Type 3	Glutaric aciduria, Elevated circulating glutaric acid concentration, Ketonuria, Lethargy, Abnorma...	ORPHA:35706
Distal Triplication 15Q	Dilatation of the renal pelvis, Abnormal heart morphology, Horseshoe kidney, Nephroblastoma, Hydr...	ORPHA:314588
Babesiosis	Hepatic failure, Depression, Renal insufficiency, Splenomegaly, Nausea and vomiting, Anorexia, He...	ORPHA:108
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Vomiting, Oroticaciduria, Elevated circulating aspartate aminotransferase concentration, Hyperamm...	OMIM:311250
Medullary Thyroid Carcinoma	Diarrhea, Pheochromocytoma, Abnormal liver parenchyma morphology, Nodular goiter, Dysphagia, Prim...	ORPHA:1332
Femoral-Facial Syndrome	Long penis, Cryptorchidism, Renal hypoplasia/aplasia, Abnormal localization of kidney, Polycystic...	ORPHA:1988
Familial Hyperprolactinemia	Female hypogonadism, Hemorrhagic ovarian cyst, Amenorrhea, Oligomenorrhea, Infertility, Menorrhagia	ORPHA:397685
Poland Syndrome	Dextrocardia	OMIM:173800
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Martinez-Frias Syndrome	Annular pancreas, Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Hypoplasia of the gal...	OMIM:601346
Senior-Loken Syndrome	Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis, Congenital hepatic fibr...	ORPHA:3156
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Hypoplasia of penis, Situs inversus totalis	ORPHA:990
Bardet-Biedl Syndrome 4	Renal cyst, Cryptorchidism, Abnormality of the kidney	OMIM:615982
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Intestinal malrota...	OMIM:300048
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated...	ORPHA:329918
Iga Nephropathy, Susceptibility To, 3	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro...	OMIM:616818
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Feeding difficulties, Lethargy, Hepatomegaly, Increased C-p...	ORPHA:276556
Ochoa Syndrome	Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie...	ORPHA:2704
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Feeding difficulties, Focal pancreatic islet hyperplasia, L...	ORPHA:276575
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Homocystinuria, Methylmalonic aciduria, Hypomethioninemia, Lethargy, Hyperhomocystinemia, Methylm...	OMIM:236270
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Lethargy, Hyperammonemia, 3-Methylglutaconic aciduria, Elevated circulating creatine kinase conce...	OMIM:618120
Polysyndactyly With Cardiac Malformation	Renal cyst, Hepatic cysts, Stillbirth	OMIM:263630
Developmental And Epileptic Encephalopathy 40	Lethargy, Feeding difficulties	OMIM:617065
Spermatogenic Failure 12	Infertility, Azoospermia	OMIM:615413
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Vomiting, Hyperammonemia, Lethargy, Low plasma citrulline, Protein avoidance, Hypoargininemia, Ep...	OMIM:237300
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce...	OMIM:609015
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Elevated circulati...	ORPHA:400
Acute Intermittent Porphyria	Depression, Diarrhea, Urinary retention, Pseudobulbar paralysis, Dark urine, Increased urinary po...	ORPHA:79276
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Vesicoureteral reflux, Abnormal aortic morphology, Renal hypoplasia/aplasia,...	ORPHA:1166
Citrullinemia Type I	Hepatic failure, Gastroesophageal reflux, Vomiting, Hyperammonemia, Lethargy, Elevated plasma cit...	ORPHA:247525
Joubert Syndrome 18	Horseshoe kidney, Renal cyst, Intrahepatic biliary atresia	OMIM:614815
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Diarrhea, Glycosuria, Vomiting, Hypophos...	ORPHA:263455
Beta-Thalassemia Intermedia	Cholelithiasis, Proximal tubulopathy, Decreased liver function, Hepatosplenomegaly, Abnormality o...	ORPHA:231222
Marden-Walker Syndrome	Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro...	ORPHA:2461
Senior-Boichis Syndrome	Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega...	ORPHA:84081
Igg4-Related Kidney Disease	Chronic kidney disease, Urethritis, Abnormal mesentery morphology, Hematuria, Abnormality of the ...	ORPHA:449395
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hepatic fibrosis, Acute kidney injury, Nephronophthisis, Cholestasis, Hepatosplenomegaly, Stage 5...	OMIM:266920
Peroxisome Biogenesis Disorder 11A (Zellweger)	Renal cyst, Elevated circulating hepatic transaminase concentration, Multiple renal cysts, Decrea...	OMIM:614883
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Hypouricemia, Renal, 1	Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati...	OMIM:220150
Hypothyroidism, Congenital, Nongoitrous, 7	Lethargy	OMIM:618573
Congenital Heart Defects, Multiple Types, 3	Abnormal heart morphology, Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal...	OMIM:614954
Combined Oxidative Phosphorylation Deficiency 37	Elevated circulating hepatic transaminase concentration, Decreased liver function, 3-Methylglutac...	OMIM:618329
Genetic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Chronic k...	ORPHA:656
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie...	ORPHA:79233
Lysinuric Protein Intolerance	Diarrhea, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, Cirrhosis...	ORPHA:470
Myotonic Dystrophy 1	Testicular atrophy, Cholelithiasis, Feeding difficulties in infancy, Dysphagia	OMIM:160900
Mitchell-Riley Syndrome	Diarrhea, Annular pancreas, Pancreatic hypoplasia, Cholestasis, Malabsorption, Absent gallbladder...	OMIM:615710
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Cryptorchidism, Death in childhood, Hypoplasia of the thymus, Hepatomegaly, Jaundi...	OMIM:214110
Mpdu1-Cdg	Decreased response to growth hormone stimulation test, Renal cortical cysts	ORPHA:79323
Liddle Syndrome	Hypokalemia, Nephropathy, Constipation, Renal insufficiency	ORPHA:526
Gaba-Transaminase Deficiency	Lethargy, Feeding difficulties	OMIM:613163
Colonic Atresia	Peptic ulcer, Colonic atresia, Abdominal situs inversus, Abnormal mesentery morphology, Duodenal ...	ORPHA:1198
Trisomy 17P	Aortic valve stenosis, Hypoplastic left heart, Hydronephrosis, Hypoplasia of penis, Urethral valv...	ORPHA:261290
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Diarrhea, Anuria, Elevated circulating creatinine concentration, Hyperlipide...	OMIM:235400
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Goiter, Feeding difficulties in infancy, Constipation, Protuberant abdomen, Abdominal distention,...	ORPHA:226313
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Transposition of the great arteries, Patent foramen ovale	OMIM:616789
8P23.1 Microdeletion Syndrome	Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventricular canal ...	ORPHA:251071
Familial Isolated Hyperparathyroidism	Nephrocalcinosis, Renal insufficiency, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Parat...	ORPHA:99879
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Jeune Syndrome	Nephropathy, Nephronophthisis, Abnormality of the liver, Renal insufficiency, Feeding difficultie...	ORPHA:474
Glycogen Storage Disease Vii	Hematuria, Jaundice, Cholelithiasis, Exercise-induced myoglobinuria	OMIM:232800
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema...	OMIM:613237
Grfoma	Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct...	ORPHA:97261
Odontochondrodysplasia 1	Nephronophthisis, Polycystic kidney dysplasia, Death in infancy	OMIM:184260
Rhabdomyolysis, Susceptibility To, 1	Renal insufficiency, Abnormal circulating acylcarnitine concentration, Elevated circulating creat...	OMIM:620235
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Hydronephrosis, Pulmonic stenosis, Ventricular septal defect	ORPHA:251076
Isolated Atp Synthase Deficiency	Renal hypoplasia, Hyperammonemia, 3-Methylglutaconic aciduria, Lethargy, Hyperalaninemia, Hepatom...	ORPHA:254913
Methylmalonic Aciduria, Cblb Type	Vomiting, Ketonuria, Methylmalonic aciduria, Elevated circulating propionylcarnitine concentratio...	OMIM:251110
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Diarrhea, Gastroesophageal reflux, Vomiting, Elevated circulating creatinine concentration, Feedi...	OMIM:223900
Coach Syndrome 1	Hepatic fibrosis, Unilateral renal agenesis, Elevated circulating hepatic transaminase concentrat...	OMIM:216360
Gillessen-Kaesbach-Nishimura Syndrome	Abnormal heart morphology, Polycystic kidney dysplasia	OMIM:263210
Phenobarbital Embryopathy	Tetralogy of Fallot, Hypospadias, Abnormal mitral valve morphology	ORPHA:1919
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Renal cyst, Feeding difficulties in infancy	OMIM:614862
Nephrotic Syndrome, Type 6	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 c...	OMIM:614196
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Dextrocardia, Ventricular septal defect	OMIM:618067
Sialuria	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Epis...	ORPHA:3166
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney, Cystic renal d...	OMIM:200995
Combined Oxidative Phosphorylation Deficiency 59	Cholelithiasis, Vomiting, Feeding difficulties, Dicarboxylic aciduria	OMIM:620646
Congenital Heart Defects, Multiple Types, 7	Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao...	OMIM:618780
Hyperprolinemia Type 2	Increased urine alpha-ketoglutarate concentration, Depression, Prolinuria, Hydroxyprolinuria, Dia...	ORPHA:79101
Lecithin:Cholesterol Acyltransferase Deficiency	Proteinuria, Renal insufficiency, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:245900
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Microcolon, Hydroureter, Neonatal death, Hydronephrosis, Abdominal distention, Fetal megacystis	OMIM:619362
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hepatomegaly, Lethargy, Elevated circulating hepatic transaminase concentration, Dysphagia	OMIM:613561
Methylcobalamin Deficiency Type Cble	Vomiting, Abnormality of the liver, Hypomethioninemia, Glomerulopathy, Lethargy, Hyperhomocystine...	ORPHA:2169
Crigler-Najjar Syndrome	Jaundice, Lethargy, Abnormality of the liver	ORPHA:205
Lesch-Nyhan Syndrome	Hematuria, Renal insufficiency, Hyperuricemia	ORPHA:510
Lessel-Kubisch Syndrome	Renal hypoplasia, Renal insufficiency	OMIM:618681
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Elevated circulating hepatic tra...	ORPHA:79095
Atresia Of Urethra	Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency...	ORPHA:105
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Tetralogy of Fallot, Persistent left superior vena cava, Overriding aorta, Double outlet right ve...	ORPHA:3304
Thyroid Hypoplasia	Jaundice, Constipation, Thyroid hypoplasia, Abdominal distention	ORPHA:95720
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Diarrhea, Hepatic steatosis, Polycystic ovaries, Tubulointer...	ORPHA:79259
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Multiple renal cysts, Adrena...	ORPHA:892
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Elevated circulating palmitoleylcarnitine concentration, Methylmalonic...	ORPHA:79284
Familial Mediterranean Fever, Autosomal Dominant	Renal amyloidosis, Renal insufficiency, Proteinuria, Peritonitis, Abdominal pain	OMIM:134610
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Decreased circulating carnitin...	ORPHA:159
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Alpha-aminoadipic aciduria, H...	OMIM:605711
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Decreased circulating iron concentration, Acute kidney injury, Glycosuria...	ORPHA:447
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Homocystinuria, Gastroesophageal reflux, Methylmalonic aciduria, Elevated circulating propionylca...	OMIM:614857
Retinitis Pigmentosa 89	Hepatic fibrosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, Micronodular cirrhosis	OMIM:618955
Lcat Deficiency	Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glomerular filtration rat...	ORPHA:650
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Ellis Van Creveld Syndrome	Hydroureter, Atrioventricular canal defect, Abnormal heart valve morphology, Abnormality of the u...	ORPHA:289
Meckel Syndrome	Accessory spleen, Multicystic kidney dysplasia, Cryptorchidism, Congenital hepatic fibrosis, Uret...	ORPHA:564
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve...	ORPHA:477817
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Gastrointestinal hemorrhage, Vomiting, Pancreatic adenocarcinoma, Abnorma...	ORPHA:2869
Glut1 Deficiency Syndrome 1	Paroxysmal lethargy, Lethargy	OMIM:606777
Hereditary Spherocytosis	Cholelithiasis, Splenomegaly, Abdominal pain, Abdominal distention, Hepatomegaly, Jaundice	ORPHA:822
Congenital Tufting Enteropathy	Cholestatic liver disease, Vomiting, Secretory diarrhea, Abnormal large intestinal mucosa morphol...	ORPHA:92050
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Red-brown urine, Decreased plasma free carnitin...	ORPHA:157
Congenital Heart Defects, Multiple Types, 2	Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep...	OMIM:614980
Cardiac-Urogenital Syndrome	Hypoplastic left heart, Coronary sinus enlargement, Interrupted aortic arch, Biventricular hypert...	OMIM:618280
Congenital Disorder Of Glycosylation, Type Il	Pericardial effusion, Polycystic kidney dysplasia, Atrial septal defect	OMIM:608776
Hereditary Xanthinuria	Hypouricemia, Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, I...	ORPHA:3467
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou...	OMIM:618316
Methylmalonic Aciduria, Cbla Type	Vomiting, Ketonuria, Methylmalonic aciduria, Hyperglycinemia, Hyperammonemia, Elevated urine 2-me...	OMIM:251100
Gonadoblastoma	Ovarian gonadoblastoma, Abnormality of the ovary, Abdominal distention, Abdominal pain, Dysgerminoma	ORPHA:206484
Microvillus Inclusion Disease	Nephrocalcinosis, Diarrhea, Villous atrophy, Abdominal distention, Abnormal small intestinal vill...	ORPHA:2290
Mesangial sclerosis, diffuse renal, with ocular abnormalities	Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency	OMIM:249660
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepatosplenomegaly, C...	OMIM:614866
Congenital Disorder Of Glycosylation, Type If	Renal cortical cysts	OMIM:609180
Renal Cysts And Diabetes Syndrome	Decreased numbers of nephrons, Pancreatic atrophy, Abnormality of the kidney, Hypospadias, Elevat...	OMIM:137920
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Neph...	OMIM:104200
Hyperinsulinism Due To Hnf1A Deficiency	Decreased circulating free fatty acid level, Lethargy, Hepatomegaly, Increased C-peptide level, F...	ORPHA:324575
Nephrotic Syndrome, Type 3	Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria,...	OMIM:610725
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Red-brown urine, Dicarboxylic aciduria, Decreas...	ORPHA:228308
Mosaic Trisomy 1	Renal cortical cysts, Penile hypospadias, Hepatic agenesis, Renal cyst, Micropenis	ORPHA:1692
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome...	OMIM:618594
Orofaciodigital Syndrome I	Hepatic fibrosis, Hepatic cysts, Ovarian cyst, Proteinuria, Pancreatic cysts, Polycystic kidney d...	OMIM:311200
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Elevated circulating acylcarnitine concentration, Red-brown urine, Stage 5 chronic kidney disease...	ORPHA:228302
Niemann-Pick Disease, Type A	Vomiting, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Hepatomega...	OMIM:257200
Holocarboxylase Synthetase Deficiency	Organic aciduria, Nausea and vomiting, Hyperammonemia, Lethargy, Anorexia	ORPHA:79242
Lymphatic Malformation 8	Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion	OMIM:618773
Fetal Encasement Syndrome	Tetralogy of Fallot, Increased urinary 8-oxo-7,8-dihydroguanosine level, Horseshoe kidney	OMIM:613630
C Syndrome	Hepatomegaly, Renal cortical cysts, Cryptorchidism	OMIM:211750
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Lethargy, Hepatomegaly, Increased C-peptide level, Feeding ...	ORPHA:276580
Paternal Uniparental Disomy Of Chromosome 1	Proteinuria, Increased blood urea nitrogen, Membranoproliferative glomerulonephritis, Macroscopic...	ORPHA:251004
Primary Pulmonary Hypoplasia	Abnormal pulmonary artery morphology, Secundum atrial septal defect, Dextrocardia, Ureteral stenosis	ORPHA:2257
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Cholesterol gallstones, Macro...	ORPHA:209902
Cyclic Vomiting Syndrome	Vomiting, Nausea, Lethargy, Gastrointestinal dysmotility, Anorexia, Abdominal pain	OMIM:500007
Visceral Myopathy, Familial, With External Ophthalmoplegia	Malnutrition, Gastroparesis, Abdominal distention, Abdominal pain, Spontaneous esophageal perfora...	OMIM:277320
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Stage 5 chronic kidn...	OMIM:603278
Lymphatic Malformation 11	Pedal edema, Lymphedema	OMIM:619401
Typhoid	Gastrointestinal hemorrhage, Diarrhea, Splenomegaly, Lethargy, Constipation, Hepatomegaly, Abdomi...	ORPHA:99745
Donohue Syndrome	Hepatic fibrosis, Long penis, Cholestasis, Pancreatic islet-cell hyperplasia, Ovarian cyst, Abdom...	OMIM:246200
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Multicystic kidney dysplasia, Microcolon, Hydroureter, Megacystis, Intestinal malrotation, Nausea...	ORPHA:2241
Al Amyloidosis	Hypoalbuminemia, Gastrointestinal hemorrhage, Gastroparesis, Abnormality of the liver, Renal insu...	ORPHA:85443
Scrub Typhus	Nausea and vomiting, Renal insufficiency, Splenomegaly, Lethargy, Abdominal pain	ORPHA:83317
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hyperglycinuria, Decreased circulating carnitine concentration, Ketonuria, Organic aciduria, Vomi...	OMIM:210210
Mitochondrial Complex I Deficiency, Nuclear Type 5	Vomiting, Lethargy, Episodic vomiting, Hepatomegaly, Dysphagia	OMIM:618226
Acrorenal Syndrome	Abnormal renal morphology, Renal insufficiency, Renal hypoplasia/aplasia	ORPHA:971
D-Bifunctional Protein Deficiency	Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatic steatosis, Splenome...	OMIM:261515
Nephrotic Syndrome, Type 22	Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff...	OMIM:619155
Classic Galactosemia	Hepatic failure, Depression, Elevated circulating hepatic transaminase concentration, Diarrhea, V...	ORPHA:79239
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepatic failure, Renal t...	OMIM:614886
Familial Hypoaldosteronism	Diarrhea, Nausea and vomiting, Hyponatremia, Lethargy, Decreased urinary potassium, Proximal rena...	ORPHA:427
Bardet-Biedl Syndrome 19	Hypoplastic left heart, Renal hypoplasia, Partial atrioventricular canal defect, Renal insufficie...	OMIM:615996
Lead Poisoning	Chronic kidney disease, Depression, Abdominal distention, Vomiting, Anorexia, Increased LDL chole...	ORPHA:330015
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal cyst, Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:611773
Gaucher Disease Type 1	Splenic infarction, Cholelithiasis, Hepatic failure, Hepatosplenomegaly, Hypersplenism, Portal hy...	ORPHA:77259
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Stage 5 chronic kidney d...	OMIM:194080
Developmental And Epileptic Encephalopathy 41	Lethargy, Nephrocalcinosis, Feeding difficulties	OMIM:617105
Joubert Syndrome 4	Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff...	OMIM:609583
Alg1-Cdg	Hypoalbuminemia, Decreased liver function, Renal insufficiency, Abnormality of the kidney, Nephro...	ORPHA:79327
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentration, Exocrine p...	ORPHA:2750
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Hematochezia, Diarrhea, Abnormal circulating protein concentration, Abdominal di...	ORPHA:103910
Nephrotic Syndrome, Type 12	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616892
Glycogen Storage Disease Xi	Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas...	OMIM:612933
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy	OMIM:613710
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Cryptorchi...	OMIM:130650
Pseudotrisomy 13 Syndrome	Renal hypoplasia, Renal agenesis, Complete atrioventricular canal defect, Ventricular septal defe...	OMIM:264480
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hepatic fibrosis, Renal hypoplasia, Renal cyst, Polycystic kidney dysplasia, Hypospadias	OMIM:614091
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Lethargy, Bradykinesia	OMIM:618683
Hereditary Central Diabetes Insipidus	Diarrhea, Lethargy, Vomiting	ORPHA:30925
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, Cryptorchidism, Prolonged neonatal jaundice, Hydronephrosis, Albuminuria, Hepatome...	OMIM:214100
Branchiootorenal Syndrome 1	Unilateral renal agenesis, Renal malrotation, Abnormal renal collecting system morphology, Euthyr...	OMIM:113650
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Focal segmental glomerulosclerosis, Nephritis, Splenomegaly, Proteinuria, Hepato...	OMIM:617303
Coenzyme Q10 Deficiency, Primary, 6	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:614650
Cholera	Acute kidney injury, Diarrhea, Vomiting, Hypocalcemia, Hypokalemia, Hyponatremia, Lethargy, Decre...	ORPHA:173
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Elevated circulating hepatic transa...	OMIM:208085
Congenital Total Pulmonary Venous Return Anomaly	Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous...	ORPHA:99125
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hyperparathyroidism, Renal insufficiency, Proteinuria, Glomerulopathy, Hypercalcemia	ORPHA:2668
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, E...	OMIM:174000
Multiple Acyl-Coa Dehydrogenase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Elevated circulating hepatic transaminase concentra...	ORPHA:26791
Mitochondrial Complex I Deficiency, Nuclear Type 4	Vomiting, Lethargy, Increased serum pyruvate	OMIM:618225
Senior-Loken Syndrome 1	Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ...	OMIM:266900
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Hypercalcemia, Renal insufficiency, Renal hypoplasia/aplasia	ORPHA:2123
Iga Nephropathy, Susceptibility To, 1	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria	OMIM:161950
Proteinuria, Chronic Benign	Proteinuria, Albuminuria, Renal insufficiency	OMIM:618884
Joubert Syndrome 39	Hypoplastic left heart, Polycystic kidney dysplasia	OMIM:619562
Nephronophthisis 4	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia...	OMIM:606966
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Hepatic failure, Diarrhea, Vomiting, Micronodular cirrhosis, Hepatocellular necrosis, Cholestasis...	OMIM:256810
Trichohepatoenteric Syndrome 1	Hepatic fibrosis, Hepatic failure, Galactosuria, Cholestasis, Renal cortical microcysts, Splenome...	OMIM:222470
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy, 2-ethylhydracylic aciduria	OMIM:610006
Nephrotic Syndrome, Type 8	Hypoalbuminemia, Chronic kidney disease, Thin glomerular basement membrane, Stage 5 chronic kidne...	OMIM:615244
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Gastrointestinal infarctions, Abnormality of the liver, Renal insuff...	ORPHA:91138
Heart Defects, Congenital, And Other Congenital Anomalies	Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Glycosuri...	OMIM:600001
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Depression, Hypocalciuria, Multiple small medullary renal cysts, Renal insuffici...	OMIM:600740
Galloway-Mowat Syndrome 8	Hypoalbuminemia, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Hematuria, P...	OMIM:618349
Thrombocytopenia-Absent Radius Syndrome	Dilatation of the renal pelvis, Horseshoe kidney, Hepatosplenomegaly, Vesicoureteral reflux, Deat...	OMIM:274000
Lambert Syndrome	Cholestasis, Jaundice, Intrahepatic biliary atresia, Hypospadias	ORPHA:1296
Atypical Hemolytic Uremic Syndrome	Proteinuria, Hematuria, Acute kidney injury	ORPHA:2134
Autoinflammation, Immune Dysregulation, And Eosinophilia	Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Membranous nephropathy, Nephrotic syndro...	OMIM:618999
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis	OMIM:617877
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Aciduria, Hepatic failure, Elevated circulating hepatic transaminase concentration, Vomiting, Mic...	OMIM:203700
Drug-Induced Lupus Erythematosus	Elevated circulating C-reactive protein concentration, Hematuria, Increased blood urea nitrogen, ...	ORPHA:231111
N-Acetylglutamate Synthase Deficiency	Vomiting, Hyperammonemia, Hyperglutamatemia, Hyperglutaminemia, Low plasma citrulline, Hyperalani...	OMIM:237310
Dengue Fever	Gastrointestinal hemorrhage, Diarrhea, Nausea and vomiting, Lethargy, Hepatomegaly, Abdominal pai...	ORPHA:99828
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated circulating hepatic transaminase concentration, Supernumerary nipple, Hyperechogenic kid...	ORPHA:397715
Biotinidase Deficiency	Diarrhea, Vomiting, Organic aciduria, Splenomegaly, Hyperammonemia, Lethargy, Feeding difficultie...	OMIM:253260
Prune Belly Syndrome	Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Tetralogy of Fallo...	ORPHA:2970
Carpenter Syndrome 1	Hydroureter, Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Transposition of the...	OMIM:201000
Wilson Disease	Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c...	OMIM:277900
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Cholelithiasis, Nephrocalcinosis, Diarrhea, Malabsorption, Chronic active hepatitis, Hypoparathyr...	OMIM:240300
Pagod Syndrome	Hypoplastic left heart, Pulmonary artery hypoplasia, Multicystic kidney dysplasia, Situs inversus...	ORPHA:991
Thakker-Donnai Syndrome	Tetralogy of Fallot, Hydronephrosis, Transposition of the great arteries, Ventricular septal defect	ORPHA:1780
Castleman Disease	Ureteral obstruction, Renal insufficiency, Nausea and vomiting, Intestinal obstruction, Hematuria...	ORPHA:160
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Abnormal heart morphology, Abnormal aortic valve morphology, Atrial...	ORPHA:261197
Qazi-Markouizos Syndrome	High, narrow palate, Cryptorchidism, Chronic constipation, Abdominal distention	ORPHA:3010
Isovaleric Acidemia	Hyperglycinuria, Lethargy, Vomiting, Elevated urinary isovalerylglycine level	OMIM:243500
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, Hyperammonemia, H...	OMIM:212138
Laurence-Moon Syndrome	Renal insufficiency, Cryptorchidism, Congenital hepatic fibrosis, Displacement of the urethral me...	ORPHA:2377
Peroxisome Biogenesis Disorder 1B	Hepatic fibrosis, Hyperoxaluria, Renal cyst, Cirrhosis, Hepatomegaly	OMIM:601539
Symptomatic Form Of Hfe-Related Hemochromatosis	Increased circulating ferritin concentration, Portal hypertension, Splenomegaly, Cardiomegaly, Le...	ORPHA:465508
Structural Heart Defects And Renal Anomalies Syndrome	Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Renal insufficiency, Truncus art...	OMIM:617478
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Cyst of the ductus choledochus	OMIM:619480
Hyperuricemia, Hprt-Related	Hyperuricosuria, Renal insufficiency, Hyperuricemia, Nephrolithiasis	OMIM:300323
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Ureteral agenesis, Neonatal death, Renal cyst, Stillbirth, Renal dysplasia	OMIM:236500
Thyrocerebrorenal Syndrome	Nephritis, Renal insufficiency, Euthyroid goiter	ORPHA:3327
Weiss-Kruszka Syndrome	Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V...	OMIM:618619
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Abdominal distention	OMIM:619423
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Ureteropelvic junction obstruction, Hydronephrosis...	OMIM:154230
Generalized Pseudohypoaldosteronism Type 1	Vomiting, Cholelithiasis, Feeding difficulties in infancy	ORPHA:171876
Cimdag Syndrome	Hepatomegaly, Cholelithiasis, Feeding difficulties, Microvesicular hepatic steatosis	OMIM:619273
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:261670
Ovarian Fibrothecoma	Abnormality of the ovary, Ovarian fibroma, Peritonitis, Abdominal distention, Abdominal pain	ORPHA:314478
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Homocystinuria, Acute kidney injury, Cystathioninemia, Vomiting, Methylmalonic acidu...	OMIM:277400
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Aminoaciduria, Lethargy, Feeding difficulties	OMIM:250620
Holocarboxylase Synthetase Deficiency	Vomiting, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, Hyperammonemia, Letha...	OMIM:253270
Ververi-Brady Syndrome	Transposition of the great arteries	OMIM:617982
Lysosomal Acid Lipase Deficiency	Diarrhea, Hepatosplenomegaly, Hypersplenism, Nausea and vomiting, Fatal liver failure in infancy,...	ORPHA:275761
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Dextrotransposition of the great arteries, Ventricular septal defect	OMIM:619995
Orthostatic Hypotension 1	Hypomagnesemia, Increased blood urea nitrogen, Retrograde ejaculation, Nocturia, Elevated circula...	OMIM:223360
Metachromatic Leukodystrophy	Gastrostomy tube feeding in infancy, Abnormal gallbladder morphology, Urinary incontinence, Hemob...	ORPHA:512
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
Familial Thyroid Dyshormonogenesis	Neonatal hyperbilirubinemia, Goiter, Abnormal circulating thyroglobulin concentration, Lethargy, ...	ORPHA:95716
Immunodeficiency 91 And Hyperinflammation	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Hepatosplenomegal...	OMIM:619644
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Ascites, Nausea and vomiting, Ovarian cyst, Enlarged polycystic ovaries...	ORPHA:64739
Aortic Arch Interruption	Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, ...	ORPHA:2299
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Meckel Syndrome, Type 10	Malformation of the hepatic ductal plate, Renal cyst, Micropenis, Hypospadias	OMIM:614175
Joubert Syndrome 20	Renal cyst	OMIM:614970
Cystinuria	Hematuria, Renal insufficiency, Hyperuricemia, Nephrolithiasis	ORPHA:214
Axial Mesodermal Dysplasia Spectrum	Abnormality of the urinary system, Gastroesophageal reflux, Abnormality of the spleen, Abnormalit...	ORPHA:1834
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Lethargy	OMIM:617900
Primary Biliary Cholangitis	Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Steatorrhea, Portal hypertension...	ORPHA:186
Isolated Dandy-Walker Malformation	Tetralogy of Fallot	ORPHA:217
Junctional Epidermolysis Bullosa With Pyloric Atresia	Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Congenital pyloric atresia, Na...	ORPHA:79403
Pediatric Systemic Lupus Erythematosus	Nephritis, Abnormality of the urinary system, Diarrhea, Vomiting, Dark urine, Renal insufficiency...	ORPHA:93552
Ciliary Dyskinesia, Primary, 1	Situs inversus totalis	OMIM:244400
Necrotizing Enterocolitis	Diarrhea, Vomiting, Hypoactive bowel sounds, Hyponatremia, Lethargy, Peritonitis, Abdominal rigid...	ORPHA:391673
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hydronephrosis, Cyst of the ductus choledochus, Hypoplastic nipples, Renal dysplasia	ORPHA:480880
Fanconi Renotubular Syndrome 3	Aminoaciduria, Glycosuria, Elevated circulating creatinine concentration, Low-molecular-weight pr...	OMIM:615605
Arima Syndrome	Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Hepatic steatosis, Renal sodi...	OMIM:243910
Dent Disease	Renal hypophosphatemia, Renal phosphate wasting, Chronic kidney disease, Hematuria, Tubulointerst...	ORPHA:1652
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Secretory diarrhea, Intestinal malrotation, Renal duplication, Abdominal distention, Ureteral dup...	OMIM:270420
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase conc...	ORPHA:93111
Sepsis In Premature Infants	Oliguria, Diarrhea, Vomiting, Decreased liver function, Functional abnormality of the gastrointes...	ORPHA:90051
Autosomal Recessive Dopa-Responsive Dystonia	Lethargy, Bradykinesia, Constipation, Feeding difficulties	ORPHA:101150
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Gastroesophageal reflux, Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesi...	OMIM:191800
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li...	ORPHA:415
Renal Coloboma Syndrome	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal...	ORPHA:1475
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas...	ORPHA:2364
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lethargy, Feeding difficulties, Neonatal death	OMIM:618232
Pontocerebellar Hypoplasia, Type 6	Lethargy, Gastroesophageal reflux, Feeding difficulties, Poor suck	OMIM:611523
Nephronophthisis 1	Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal...	OMIM:256100
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Abdominal distention	OMIM:246400
Thyroid Dyshormonogenesis 1	Lethargy, Constipation, Goiter	OMIM:274400
Joubert Syndrome 5	Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu...	OMIM:610188
Familial Visceral Myopathy	Hyperparathyroidism, Hydroureter, Megacystis, Abdominal situs inversus, Vesicoureteral reflux, Ab...	ORPHA:2604
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Strok...	ORPHA:1457
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, Coarctation of aorta, Micropenis, Dextrocardia	OMIM:618929
Achondrogenesis, Type Ib	Abdominal distention, Stillbirth	OMIM:600972
Oculogastrointestinal Muscular Dystrophy	Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Abnormal gastric mucosa morphology, ...	ORPHA:1876
Idiopathic Intracranial Hypertension	Vomiting, Lethargy, Depression, Nausea	ORPHA:238624
3-Hydroxy-3-Methylglutaric Aciduria	3-Methylglutaric aciduria, Elevated circulating hepatic transaminase concentration, Ketonuria, Di...	ORPHA:20
Trisomy X	Multicystic kidney dysplasia, Depression, Renal hypoplasia/aplasia, Constipation, Abdominal pain	ORPHA:3375
Polyembryoma	Abdominal pain, Macroorchidism, Abnormal peritoneum morphology, Abdominal distention	ORPHA:180229
Maternal Phenylketonuria	Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Ventricular septal defect...	ORPHA:2209
Relapsing Fever	Acute kidney injury, Abnormality of the urinary system, Elevated circulating hepatic transaminase...	ORPHA:91547
Distal 16P11.2 Microdeletion Syndrome	Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Hyperuricemia, Chronic constipatio...	ORPHA:261222
Meningococcal Meningitis	Renal insufficiency, Lethargy, Anorexia, Elevated circulating C-reactive protein concentration, P...	ORPHA:33475
Mosaic Trisomy 9	Renal dysplasia, Abnormal heart valve morphology, Horseshoe kidney, Endocardial fibroelastosis, V...	ORPHA:99776
Granulomatous Slack Skin	Acute kidney injury, Hypercalcemia, Nephrocalcinosis	ORPHA:33111
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Abnormal heart morphology, Renal insufficiency, Vesicoureteral reflux,...	ORPHA:2237
Czeizel-Losonci Syndrome	Abnormality of the urinary system, Ureteral agenesis, Hydronephrosis, Dextrocardia, Congenital me...	ORPHA:2437
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy	OMIM:613002
Primary Hyperoxaluria Type 2	Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ...	ORPHA:93599
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate...	OMIM:120330
Joubert Syndrome	Situs inversus totalis	ORPHA:475
Mitochondrial Complex I Deficiency, Nuclear Type 6	Lethargy, Vomiting, Left ventricular hypertrophy	OMIM:618228
Hyperuricemic Nephropathy, Familial Juvenile, 3	Abnormal renal insterstitial morphology, Renal insufficiency, Impaired renal concentrating abilit...	OMIM:614227
Central Neurocytoma	Lethargy, Depression, Nausea and vomiting	ORPHA:73256
Anterior Cutaneous Nerve Entrapment Syndrome	Abdominal distention, Recurrent urinary tract infections, Recurrent infection of the gastrointest...	ORPHA:51890
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Porphyria Cutanea Tarda	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation...	ORPHA:101330
Epidermolysis Bullosa Simplex With Pyloric Atresia	Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Vomiting, Aplasia of ...	ORPHA:158684
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas...	ORPHA:2260
Metachromatic Leukodystrophy, Late Infantile Form	Urinary incontinence, Feeding difficulties in infancy, Cholecystitis, Abdominal distention	ORPHA:309256
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Elevated circula...	OMIM:614455
Hyperoxaluria, Primary, Type Ii	Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis	OMIM:260000
Myoglobinuria, Autosomal Dominant	Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:160010
Alport Syndrome	Thickened glomerular basement membrane, Focal segmental glomerulosclerosis, Glomerular basement m...	ORPHA:63
Isolated Cleft Lip	Situs inversus totalis	ORPHA:199302
Meckel Syndrome 14	Hepatic fibrosis, Polycystic kidney dysplasia, Protuberant abdomen, Abdominal distention	OMIM:619879
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentration, Ureterocel...	ORPHA:261265
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Protein-losing enteropathy, Hepatic failure, Pancreatic lymphangiectasis, Ascites, Cryptorchidism...	OMIM:235255
Nephronophthisis 11	Hepatic fibrosis, Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kid...	OMIM:613550
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Protein-losing enteropathy, Hepatic failure, Pancreatic lymphangiectasis, Ascites, Hepatosplenome...	ORPHA:1655
Febrile Infection-Related Epilepsy Syndrome	Lethargy	ORPHA:163703
Cystinosis	Nephropathy, Aminoaciduria, Vomiting, Malabsorption, Renal insufficiency, Portal hypertension, Re...	ORPHA:213
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Tetralogy of Fallot, Hypoplasia of penis, Hypospadias	ORPHA:1381
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:1937
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Nausea, Lethargy, Dysphagia, Melena, ...	ORPHA:319218
Johanson-Blizzard Syndrome	Hydronephrosis, Abnormal cardiac septum morphology, Dextrocardia, Hypoplasia of penis, Hypospadias	ORPHA:2315
Cryoglobulinemia, Familial Mixed	Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Proteinuria, Ab...	OMIM:123550
Leiomyomatosis, Diffuse, With Alport Syndrome	Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Vo...	OMIM:308940
Nephrogenic Diabetes Insipidus	Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Feeding difficulties, Rena...	ORPHA:223
Fanconi Renotubular Syndrome 1	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur...	OMIM:134600
Glycogen Storage Disease Xii	Cholelithiasis, Cholecystitis, Splenomegaly, Elevated circulating alanine aminotransferase concen...	OMIM:611881
Alport Syndrome 2, Autosomal Recessive	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:203780
Schimke Immuno-Osseous Dysplasia	Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 chron...	ORPHA:1830
Pearson Marrow-Pancreas Syndrome	3-Methylglutaric aciduria, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:557000
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect	OMIM:217085
Juvenile Nephropathic Cystinosis	Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Hypophosphatemia, Aminoaciduria, A...	ORPHA:411634
Thyroid Hemiagenesis	Hyperparathyroidism, Jaundice, Constipation, Abdominal distention	ORPHA:95719
Renpenning Syndrome	Hypospadias, Heterotaxy	ORPHA:3242
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hepatomegaly, Lethargy, Vomiting, Hyperglycinemia	OMIM:614299
Dent Disease 1	Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo...	OMIM:300009
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Vesicoureteral reflux, Ventricular septal defect, Hydronephrosis, Double outlet right ventricle, ...	OMIM:301056
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Homocystinuria, Cystathioninemia, Methylmalonic aciduria, Cystathioninuria, Elevated circulating ...	OMIM:277380
Kallmann Syndrome-Heart Disease Syndrome	Pulmonary artery hypoplasia, Dilated cardiomyopathy, Renal agenesis, Anomalous origin of left cor...	ORPHA:2326
8P Inverted Duplication/Deletion Syndrome	Abnormality of the urinary system, Abnormal heart morphology, Tetralogy of Fallot, Hydronephrosis...	ORPHA:96092
Syndromic Diarrhea	Peripheral pulmonary artery stenosis, Renal hypoplasia, Abnormal heart morphology, Tetralogy of F...	ORPHA:84064
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Lethargy, Pancreatic islet-cell hyperplasia	ORPHA:276608
Wolcott-Rallison Syndrome	Hypoalbuminemia, Chronic kidney disease, Elevated circulating hepatic transaminase concentration,...	ORPHA:1667
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Gastroesophageal reflux, Vomiting, Cholestasis, Abdominal distention, Hepatomegaly, Chronic diarrhea	OMIM:620233
Say Syndrome	Cystic renal dysplasia, Proximal renal tubular acidosis	OMIM:181180
Fetal Minoxidil Syndrome	Ventricular septal defect, Umbilical hernia	ORPHA:1918
Classic Glucose Transporter Type 1 Deficiency Syndrome	Lethargy	ORPHA:71277
Hydrocephaly-Low Insertion Umbilicus Syndrome	Tetralogy of Fallot, Abnormality of the urinary system, Patent ductus arteriosus, Anomalous pulmo...	ORPHA:2184
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Renal insufficiency, Hyperuricemia, Hyperuricosuria, Uric acid nephrolithias...	ORPHA:411543
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Unilateral renal agenesis, Gastroesophageal reflux, Splenic cyst, Ovarian cy...	OMIM:618188
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Interrupted aortic arch, Hypoplastic tricuspid valve, Congenital defect of the pericardium, Tetra...	ORPHA:2255
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu...	OMIM:610805
Pseudo-Torch Syndrome 2	Hepatomegaly, Lethargy, Elevated circulating hepatic transaminase concentration, Abnormal renal c...	OMIM:617397
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Mitral valve prolapse, Ventricular septal defect, Polycystic ovaries, Bicuspid aortic valve, Coar...	ORPHA:371428
North American Indian Childhood Cirrhosis	Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension	OMIM:604901
Pyruvate Dehydrogenase E1-Alpha Deficiency	Lethargy, Increased serum pyruvate, Hyperalaninemia	OMIM:312170
Phelan-Mcdermid Syndrome	Vesicoureteral reflux, Ventricular septal defect, Abnormality of the kidney, Polycystic kidney dy...	OMIM:606232
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Chronic kidney disease, Renal tubular acidosis, 3-Methylglutaconic aciduria, Elevated circulating...	ORPHA:324525
Spondylocostal Dysostosis 1, Autosomal Recessive	Protuberant abdomen, Abdominal distention	OMIM:277300
Thiamine-Responsive Megaloblastic Anemia Syndrome	Lethargy, Diarrhea, Anorexia	ORPHA:49827
Cockayne Syndrome Type 1	Elevated circulating hepatic transaminase concentration, Diarrhea, Renal insufficiency, Cryptorch...	ORPHA:90321
Peripheral Primitive Neuroectodermal Tumor	Pelvic mass, Anorexia, Ascites, Nausea and vomiting, Episodic abdominal pain, Pancreatitis, Abdom...	ORPHA:370348
Cranioectodermal Dysplasia 2	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Poly...	OMIM:613610
Galloway-Mowat Syndrome 2, X-Linked	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:301006
Resistance To Thyrotropin-Releasing Hormone Syndrome	Depression, Increased circulating prolactin concentration, Prolonged neonatal jaundice, Lethargy,...	ORPHA:99832
Marden-Walker Syndrome	Micropenis, Renal hypoplasia, Hypospadias, Dextrocardia	OMIM:248700
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:617866
Alpha-Thalassemia	Cholelithiasis, Hepatosplenomegaly, Hypersplenism, Splenomegaly, Jaundice	ORPHA:846
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	ORPHA:26793
Dopamine Beta-Hydroxylase Deficiency	Elevated urinary dopamine level, Diarrhea, Vomiting, Elevated circulating creatinine concentratio...	ORPHA:230
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Pauci-Immune Glomerulonephritis	Acute kidney injury, Elevated circulating creatinine concentration, Decreased glomerular filtrati...	ORPHA:93126
Fanconi Renotubular Syndrome 2	Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g...	OMIM:613388
Congenital Disorder Of Glycosylation, Type Iiw	Moderate albuminuria, Elevated circulating hepatic transaminase concentration, Gastroesophageal r...	OMIM:619525
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Biliary atresia	ORPHA:565899
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
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hyperuricemia	ORPHA:3222
Transcobalamin Ii Deficiency	Diarrhea, Vomiting, Methylmalonic aciduria, Lethargy, Hyperhomocystinemia, Hepatomegaly	OMIM:275350
Lymphoid Interstitial Pneumonia	Hepatomegaly, Enlarged kidney	ORPHA:79128
Hypomagnesemia 3, Renal	Chronic kidney disease, Hyperphosphatemia, Hematuria, Feeding difficulties in infancy, Macroscopi...	OMIM:248250
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Renal cortical cysts, Vesicoureteral reflux	OMIM:618548
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Renal cyst, Multicystic kidney dysplasia, Congenital hepatic fibrosis	ORPHA:2031
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Lethargy, Increased urinary glycerol	OMIM:229700
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Diarrhea, Decreased testicular size, Splenomegaly, Lethargy, Decreased serum zinc, Hepatomegaly, ...	OMIM:201100
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia, Enlarged kidney, Renal dysplasia	OMIM:613091
Genetic Recurrent Myoglobinuria	Acute kidney injury, Oliguria, Hyperphosphatemia, Elevated circulating hepatic transaminase conce...	ORPHA:99845
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Vomiting, Decre...	OMIM:613658
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Hepatomegaly, Lethargy, Increased serum pyruvate, Feeding difficulties	OMIM:604377
Joubert Syndrome With Hepatic Defect	Nephropathy, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentratio...	ORPHA:1454
Senior-Loken Syndrome 9	Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage 5 chronic kidney disease, Tubulointerstiti...	OMIM:616629
Atrial Septal Defect 1	Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,...	OMIM:108800
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Homocystinuria, Methylmalonic aciduria, Hypomethioninemia, Lethargy, Hyperhomocystinemia, Methylm...	OMIM:277410
Hyperparathyroidism-Jaw Tumor Syndrome	Nephrocalcinosis, Renal hamartoma, Pancreatic adenocarcinoma, Abnormal parathyroid morphology, Re...	ORPHA:99880
3-Methylglutaconic Aciduria Type 7	Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Renal insufficiency, H...	ORPHA:445038
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Hepatitis, Hypoplasia of the thymus, Abnormal ductus choledochus morphology, ...	ORPHA:436252
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Hypogonadism-Cataract Syndrome	Hypogonadism, Infertility, Male hypogonadism	OMIM:240950
Metachromatic Leukodystrophy, Juvenile Form	Urinary incontinence, Cholecystitis, Abdominal distention	ORPHA:309263
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ...	OMIM:620454
Myh9-Related Disease	Nephropathy, Nephritis, Elevated circulating hepatic transaminase concentration, Renal insufficie...	ORPHA:182050
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Supernumerary nipple, Elevated circulating creatinine concentration, Stage 5 ch...	OMIM:614376
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cyst, Renal cell carcinoma	OMIM:135150
Lathosterolosis	Hepatic fibrosis, Intrahepatic cholestasis, Horseshoe kidney, Elevated circulating aspartate amin...	OMIM:607330
Transketolase Deficiency	Increased level of ribose in urine, Abnormal heart morphology, Patent foramen ovale, Ventricular ...	ORPHA:488618
Chromosome 15Q25 Deletion Syndrome	Coronary artery fistula, Ventricular septal defect, Abnormal cardiac septum morphology, Dextrocar...	OMIM:614294
Metachromatic Leukodystrophy, Adult Form	Cholecystitis, Abdominal distention, Urinary incontinence, Neoplasm of the gallbladder, Bowel inc...	ORPHA:309271
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Feeding difficulties in infancy	OMIM:618775
Distal Duplication 5Q	Hypospadias, Dextrocardia, Ventricular septal defect	ORPHA:96097
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Splenomegaly, Intermittent jaundice, Portal vein thrombosis, Abdominal pain	ORPHA:3202
Hereditary Elliptocytosis	Cholelithiasis, Splenomegaly, Abdominal pain, Prolonged neonatal jaundice, Jaundice	ORPHA:288
Epidermal Nevus Syndrome	Polycystic kidney dysplasia	ORPHA:35125
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Splenom...	OMIM:615630
Adams-Oliver Syndrome 4	Ventricular septal defect, Atrial septal defect, Umbilical hernia	OMIM:615297
Genetic Transient Congenital Hypothyroidism	Goiter, Feeding difficulties, Lethargy, Constipation, Prolonged neonatal jaundice, Thyroid hypopl...	ORPHA:226316
Porphyria Variegata	Chronic kidney disease, Elevated circulating hepatic transaminase concentration, Abnormality of t...	ORPHA:79473
Variant Abeta2M Amyloidosis	Chronic kidney disease, Renal amyloidosis, Hepatic amyloidosis, Gastrointestinal infarctions, Abn...	ORPHA:314652
Wild Type Attr Amyloidosis	Nephropathy, Intermittent diarrhea, Renal insufficiency, Proteinuria, Gastrointestinal dysmotilit...	ORPHA:330001
Cranioacrofacial Syndrome	Pulmonic stenosis, Ventricular septal defect	OMIM:122850
Parathyroid Carcinoma	Nephrocalcinosis, Renal hamartoma, Parathyroid carcinoma, Pancreatic adenocarcinoma, Abnormal par...	ORPHA:143
Isolated Complex I Deficiency	Vomiting, Proximal tubulopathy, Lethargy, Hepatomegaly, Increased serum pyruvate, Feeding difficu...	ORPHA:2609
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Nephronophthisis, Polyuria	OMIM:606996
Nephrotic Syndrome, Type 11	Hypoalbuminemia, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, IgA depos...	OMIM:616730
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Abnormal mesentery morphology, Abnormality of the gallbladder, Cryp...	ORPHA:2075
Mody	Nephropathy, Glycosuria, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Abnormal circu...	ORPHA:552
Susac Syndrome	Lethargy, Apathy, Nausea and vomiting	ORPHA:838
Joubert Syndrome 7	Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:611560
Legionnaires Disease	Diarrhea, Hepatitis, Renal insufficiency, Splenomegaly, Nausea and vomiting, Hyponatremia, Hematu...	ORPHA:549
Acquired Ichthyosis	Renal insufficiency	ORPHA:454
Frasier Syndrome	Focal segmental glomerulosclerosis, Streak ovary, Renal insufficiency, Nephroblastoma, Proteinuri...	ORPHA:347
H Syndrome	Decreased testicular size, Hepatosplenomegaly, Malabsorption, Abnormality of the kidney, Hypertri...	ORPHA:168569
Sialuria	Splenomegaly, Hypoplastic nipples, Protuberant abdomen, Increased level of N-acetylneuraminic aci...	OMIM:269921
Anti-Glomerular Basement Membrane Disease	Proteinuria, Hematuria, Glomerulopathy, Renal insufficiency	ORPHA:375
Multicentric Carpotarsal Osteolysis Syndrome	Proteinuria, Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency	OMIM:166300
Dysostosis Multiplex, Ain-Naz Type	Abdominal distention	OMIM:619345
Fraser Syndrome 2	Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of...	OMIM:617666
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Thickened glomerular basement membrane, Hepatic fibrosis, Elevated circulating h...	OMIM:619487
Yuan-Harel-Lupski Syndrome	Bicuspid aortic valve, Aortic root aneurysm, Double outlet right ventricle, Ventricular septal de...	OMIM:616652
Diaphanospondylodysostosis	Multiple renal cysts	ORPHA:66637
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Diarrhea, Vomiting, Low-molecular-weight p...	ORPHA:18
Cardioacrofacial Dysplasia 1	Atrioventricular canal defect, Complete atrioventricular canal defect	OMIM:619142
Mitochondrial Trifunctional Protein Deficiency	Poor suck, Cholestasis, Hypocalcemia, Chronic hepatic failure, Lethargy, Left ventricular hypertr...	ORPHA:746
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect	OMIM:178370
Vater/Vacterl Association	Hypospadias, Renal agenesis, Renal dysplasia, Tetralogy of Fallot, Vesicoureteral reflux, Uretero...	OMIM:192350
Neurooculorenal Syndrome	Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hyperechogenic ki...	OMIM:620305
Alg9-Cdg	Periportal fibrosis, Hypoplasia of the bladder, Diarrhea, Vomiting, Gastroesophageal reflux, Hepa...	ORPHA:79328
Floating-Harbor Syndrome	Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Tetralogy of Fallot, Stage 5 ch...	ORPHA:2044
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Elevated...	ORPHA:368
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hepatomegaly, Splenomegaly, Abdominal distention	OMIM:602557
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dilatation of the renal pelvis, Cholestasis, Hyperbilirubinemia, Dark urine, Congenital hepatic f...	OMIM:619534
Hypophosphatemic Rickets, X-Linked Recessive	Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole...	OMIM:300554
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Acute kidney injury, Hyperkalemia, Myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:268200
Folinic Acid-Responsive Seizures	Abdominal distention	ORPHA:79097
Reni Syndrome	Hypoalbuminemia, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage ...	OMIM:617575
Pentalogy Of Cantrell	Renal agenesis, Polysplenia, Absent gallbladder, Hypospadias, Renal dysplasia	ORPHA:1335
Pulmonary Edema Of Mountaineers, Susceptibility To	Pulmonary edema, Edema	OMIM:178400
Syndromic Recessive X-Linked Ichthyosis	Unilateral renal agenesis, Testicular seminoma, Renal insufficiency, Cryptorchidism	ORPHA:281090
Isolated Thyroid-Stimulating Hormone Deficiency	Neonatal hyperbilirubinemia, Depression, Increased circulating prolactin concentration, Goiter, P...	ORPHA:90674
Prolactin Deficiency, Isolated	Irregular menstruation, Infertility	OMIM:264110
Bardet-Biedl Syndrome 6	Renal cyst, Hypospadias	OMIM:605231
Late-Onset Isolated Acth Deficiency	Diarrhea, Pituitary adenoma, Hepatitis, Nausea and vomiting, Hyperuricemia, Hyponatremia, Letharg...	ORPHA:199299
Verheij Syndrome	Renal hypoplasia, Renal agenesis, Truncus arteriosus, Ventricular septal defect, Renal cyst	OMIM:615583
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hypoalbuminemia, Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary glycosaminoglyca...	ORPHA:505248
Birk-Landau-Perez Syndrome	Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Renal insufficiency, In...	OMIM:617595
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Nephropathy, Streak ovary, Renal insufficiency, Cryptorchidism, Nephroblastoma, Hypospadias	OMIM:194072
Spinal Muscular Atrophy, Type I	Atrial septal defect, Ventricular septal defect	OMIM:253300
Mhc Class Ii Deficiency 1	Protracted diarrhea, Recurrent urinary tract infections, Malabsorption, Biliary tract abnormality...	OMIM:209920
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Micropenis, Decreased testicular size, Cholelithiasis, Cryptorchidism	OMIM:300534
Currarino Syndrome	Anal stenosis, Recurrent urinary tract infections, Horseshoe kidney, Vesicoureteral reflux, Chron...	OMIM:176450
Evans Syndrome	Jaundice, Lethargy	ORPHA:1959
Hypothyroidism Due To Tsh Receptor Mutations	Neonatal hyperbilirubinemia, Lethargy, Feeding difficulties in infancy, Constipation, Prolonged n...	ORPHA:90673
Heart Defects-Limb Shortening Syndrome	Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral valve morphology, Vent...	ORPHA:1354
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Recurrent urin...	OMIM:248190
Systemic Capillary Leak Syndrome	Diarrhea, Oliguria, Renal insufficiency, Abnormal renal tubule morphology, Pancreatitis, Abdomina...	ORPHA:188
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch...	OMIM:617731
Renpenning Syndrome 1	Renal hypoplasia, Tetralogy of Fallot, Situs inversus totalis, Phimosis, Ventricular septal defec...	OMIM:309500
Benign Samaritan Congenital Myopathy	Lethargy	ORPHA:324581
Galloway-Mowat Syndrome 4	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome...	OMIM:617730
Mckusick-Kaufman Syndrome	Hydroureter, Cryptorchidism, Hydronephrosis, Polycystic kidney dysplasia, Vesicovaginal fistula	OMIM:236700
Tuberous Sclerosis Complex	Chronic kidney disease, Pituitary adenoma, Pheochromocytoma, Stage 5 chronic kidney disease, Rena...	ORPHA:805
Mckusick-Kaufman Syndrome	Hypoplastic left heart, Multicystic kidney dysplasia, Tetralogy of Fallot, Glandular hypospadias,...	ORPHA:2473
Triosephosphate Isomerase Deficiency	Cholelithiasis, Cholecystitis, Splenomegaly, Prolonged neonatal jaundice, Jaundice	OMIM:615512
Multifocal Atrial Tachycardia	Lethargy, Feeding difficulties in infancy, Cryptorchidism	ORPHA:3282
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Peritonitis, Abdominal dist...	OMIM:619351
Hypocomplementemic Urticarial Vasculitis	Diarrhea, Renal insufficiency, Splenomegaly, Nausea and vomiting, Hematuria, Proteinuria, Glomeru...	ORPHA:36412
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Elevated circulating palmitoleylcarnitine concentration, Ketonuria, Methylmalonic aciduria, Feedi...	ORPHA:79282
Frasier Syndrome	Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Stage 5 chronic kidney disease, Prote...	OMIM:136680
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting,...	ORPHA:542323
Hypouricemia, Renal, 2	Hypouricemia, Nephrolithiasis	OMIM:612076
Boutonneuse Fever	Diarrhea, Elevated circulating hepatic transaminase concentration, Renal insufficiency, Nausea, A...	ORPHA:83313
Hypomagnesemia 2, Renal	Hypocalciuria, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, Hypokalemia	OMIM:154020
Achondrogenesis Type 1A	Abdominal distention	ORPHA:93299
Meckel Syndrome, Type 1	Malformation of the hepatic ductal plate, Accessory spleen, Hypoplasia of the bladder, Renal agen...	OMIM:249000
Amyloidosis, Finnish Type	Cardiomyopathy, Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic synd...	OMIM:105120
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Chronic kidney disease, Acute kidney injury, Elevated circulating hepatic transaminase concentrat...	ORPHA:284426
Distal Deletion 12Q	Congenital hypertrophy of left ventricle, Pituitary adenoma, Annular pancreas, Vesicoureteral ref...	ORPHA:96149
Knobloch Syndrome	Bifid ureter, Vesicoureteral reflux, Patent ductus arteriosus, Dextrocardia	ORPHA:1571
Leukoencephalopathy With Vanishing White Matter 1	Lethargy	OMIM:603896
Peutz-Jeghers Syndrome	Intestinal bleeding, Bladder polyp, Bile duct polyp, Bloody diarrhea, Abnormality of the ureter, ...	OMIM:175200
Hemihyperplasia-Multiple Lipomatosis Syndrome	Ovarian serous cystadenoma, Hydrocele testis, Enlarged kidney, Nephroblastoma	ORPHA:276280
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Inflammation of the large intestine, Decreased glomerular fil...	OMIM:232240
Multiple Endocrine Neoplasia Type 2	Thyroid C cell hyperplasia, Diarrhea, Elevated urinary norepinephrine level, Pheochromocytoma, El...	ORPHA:653
Beckwith-Wiedemann Syndrome	Nephropathy, Visceromegaly, Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Vesi...	ORPHA:116
Congenital Disorder Of Glycosylation, Type Ig	Hypocalcemia, Cryptorchidism, Lethargy, Micropenis, Hypospadias, Feeding difficulties, Poor suck	OMIM:607143
Autoimmune Lymphoproliferative Syndrome, Type Iii	Recurrent urinary tract infections, Elevated circulating aspartate aminotransferase concentration...	OMIM:615559
Peroxisome Biogenesis Disorder 13A (Zellweger)	Intrahepatic cholestasis, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase ...	OMIM:614887
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia	OMIM:617661
Chime Syndrome	Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Pulmonary valve atresia, Transpos...	ORPHA:3474
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Ureteropelvic junction obstruction, Ve...	OMIM:280000
Muckle-Wells Syndrome	Elevated circulating C-reactive protein concentration, Renal amyloidosis, Renal insufficiency	OMIM:191900
Ventriculomegaly With Cystic Kidney Disease	Hyperechogenic kidneys, Renal insufficiency, Ventricular septal defect, Renal corticomedullary cy...	OMIM:219730
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Hepatitis, Cholestasis, Renal insufficiency, Portal hypertension, Abno...	ORPHA:440713
Congenital Alveolar Capillary Dysplasia	Hydronephrosis, Asplenia, Absent gallbladder, Annular pancreas	ORPHA:210122
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hepatic fibrosis, Proximal tubulopathy, Elevated circulating hepatic transaminas...	OMIM:212065
Shigellosis	Acute kidney injury, Hepatic failure, Vomiting, Tenesmus, Ulcerative colitis, Urethritis, Cholest...	ORPHA:810
Biliary Cirrhosis, Primary, 1	Biliary cirrhosis	OMIM:109720
Celiac Disease, Susceptibility To, 1	Diarrhea, Depression, Elevated circulating hepatic transaminase concentration, Vomiting, Hypocalc...	OMIM:212750
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Glomerular bas...	OMIM:609057
Vacterl/Vater Association	Hypospadias, Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Abnormalit...	ORPHA:887
Joubert Syndrome 35	Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections	OMIM:618161
Basel-Vanagaite-Smirin-Yosef Syndrome	Cholelithiasis, Male urethral meatus stenosis, Hydronephrosis, Constipation, Hypospadias	ORPHA:464738
Imerslund-Grasbeck Syndrome 2	Moderate albuminuria, Diarrhea, Recurrent urinary tract infections, Renal insufficiency, Proteinuria	OMIM:618882
Alport Syndrome 1, X-Linked	Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Nephritis, Stag...	OMIM:301050
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Hydranencephaly, Unilateral renal agenesis, Ventricular septal defect	OMIM:601355
15Q11.2 Microdeletion Syndrome	Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu...	ORPHA:261183
Cerebrotendinous Xanthomatosis	Cholelithiasis, Diarrhea, Pseudobulbar paralysis	OMIM:213700
Senior-Loken Syndrome 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis	OMIM:606995
22Q11.2 Deletion Syndrome	Abnormal aortic arch morphology, Renal hypoplasia, Tetralogy of Fallot, Retinal arteriolar tortuo...	ORPHA:567
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hypernatriuria, Decreased circulating renin level, Hyponatremia, Hyposthenuria, Reduced blood ure...	OMIM:300539
X-Linked Intellectual Disability, Nascimento Type	Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Vesicoureteral reflux, Mitral stenosis...	ORPHA:163956
Bor Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ...	ORPHA:107
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Oliguria, Diarrhea, Gastrointestinal infarctions, Renal insufficienc...	ORPHA:727
Autosomal Dominant Progressive External Ophthalmoplegia	Depression, Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Goi...	ORPHA:254892
Down Syndrome	Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular canal defect, Paten...	OMIM:190685
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Micropenis, Hepatic fibrosis, Polycystic kidney dysplasia, Pancreatic fibrosis	OMIM:263520
Mesoaxial Hexadactyly And Cardiac Malformation	Atrial septal defect, Pulmonic stenosis, Ventricular septal defect	OMIM:249670
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Micropenis, Polycystic kidney dysplasia, Atrial septal defect	OMIM:616546
Mucolipidosis Ii Alpha/Beta	Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Protuberant abdomen, Hepatomegaly, Enlarged ki...	OMIM:252500
Msh3-Related Attenuated Familial Adenomatous Polyposis	Stomach cancer, Juvenile gastrointestinal polyposis, Multiple gastric polyps, Renal cyst, Neoplas...	ORPHA:480536
Trichohepatoneurodevelopmental Syndrome	Cholelithiasis, Gastroesophageal reflux, Decreased liver function, Exocrine pancreatic insufficie...	OMIM:618268
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Elevated circulating acylcarnitine concentration, Abnormal circulating creatine kinase concentrat...	OMIM:615838
Leprechaunism	Nephrocalcinosis, Long penis, Hypokalemia, Hypercalciuria, Enlarged ovaries, Abdominal distention...	ORPHA:508
Chromosome 1P36 Deletion Syndrome, Proximal	Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric...	OMIM:619343
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,...	OMIM:618913
15q26 overgrowth syndrome	Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephro...	DECIPHER:81
Caudal Regression Syndrome	Renal agenesis, Abnormality of the ureter, Renal insufficiency, Vesicoureteral reflux, Cryptorchi...	ORPHA:3027
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glome...	ORPHA:567546
Zellweger Syndrome	Hepatic failure, Multicystic kidney dysplasia, Malabsorption, Cryptorchidism, Hydronephrosis, Fee...	ORPHA:912
Thyroid Ectopia	Lingual thyroid, Constipation, Abdominal distention, Jaundice, Dysphagia, Ectopic thyroid	ORPHA:95712
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Ventricular septal defect, Neonatal death	OMIM:615524
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Ventricular septal defect, A...	OMIM:612561
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
Rhyns Syndrome	Chronic kidney disease, Nephronophthisis, Decreased response to growth hormone stimulation test, ...	OMIM:602152
Gaucher Disease, Type Ii	Gastroesophageal reflux, Splenomegaly, Protuberant abdomen, Hepatomegaly, Dysphagia, Feeding diff...	OMIM:230900
Neuroblastoma	Elevated urinary homovanillic acid, Increased circulating ferritin concentration, Elevated urinar...	ORPHA:635
Primary Hyperoxaluria Type 1	Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r...	ORPHA:93598
Hajdu-Cheney Syndrome	Ventricular septal defect, Renal cyst, Polycystic kidney dysplasia, Hypospadias, Patent ductus ar...	OMIM:102500
Schimke Immunoosseous Dysplasia	Focal segmental glomerulosclerosis, Bilateral cryptorchidism, Stage 5 chronic kidney disease, Ren...	OMIM:242900
Joubert Syndrome With Ocular Defect	Dextrocardia	ORPHA:220493
Porphyria, Congenital Erythropoietic	Cholelithiasis, Splenomegaly, Red urine, Pink urine, Hepatomegaly, Jaundice	OMIM:263700
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Thickened glomerular basement membrane, Chronic kidney disease, Nephrocalcinosis, Unilateral rena...	OMIM:146255
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki...	OMIM:617641
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Abnormal liver parenchyma morphology,...	ORPHA:456312
Smith-Lemli-Opitz Syndrome	Hepatic steatosis, Cryptorchidism, Cirrhosis, Abdominal distention, Hepatomegaly, Duplicated coll...	OMIM:270400
Giant Cell Arteritis	Vasculitis, Aortic dissection, Double outlet right ventricle with subpulmonary ventricular septal...	ORPHA:397
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Renal hypoplasia/aplasia, ...	ORPHA:2973
Fabry Disease	Diarrhea, Lipiduria, Vomiting, Tenesmus, Renal insufficiency, Proteinuria, Nausea, Left ventricul...	OMIM:301500
Hypothyroidism, Congenital, Nongoitrous, 2	Goiter, Hyperbilirubinemia, Lethargy, Feeding difficulties in infancy, Constipation, Abdominal di...	OMIM:218700
Familial Adenomatous Polyposis 4	Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Renal cyst, Adenomatous colonic polyposis	OMIM:617100
Glycerol Kinase Deficiency	Vomiting, Increased urinary glycerol, Chronic pancreatitis, Cryptorchidism, Nausea, Lethargy, Epi...	OMIM:307030
Ogden Syndrome	Peripheral pulmonary artery stenosis, Secundum atrial septal defect, Patent foramen ovale, Ventri...	OMIM:300855
Pearson Syndrome	Hepatic steatosis, Hypophosphatemia, Hepatomegaly, Hypoparathyroidism, Hypoplastic spleen, Dyspha...	ORPHA:699
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Abdominal distention, V...	ORPHA:3260
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuri...	OMIM:254900
Carpenter Syndrome 2	Situs inversus totalis, Transposition of the great arteries, Atrial septal defect, Dextrocardia, ...	OMIM:614976
Nemaline Myopathy 9	Ventricular septal defect	OMIM:615731
Endocrine-Cerebroosteodysplasia	Microphallus, Hyperechogenic kidneys, Cryptorchidism, Hypospadias, Enlarged kidney	OMIM:612651
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Abnormal localization of kidney, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Pyruvate Dehydrogenase Deficiency	Lethargy, Feeding difficulties in infancy	ORPHA:765
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Homocystinuria, Cystathioninemia, Hypomethioninemia, Lethargy, Feeding difficulties in infancy, H...	ORPHA:395
Transcobalamin Deficiency	Acute kidney injury, Methylmalonic aciduria	ORPHA:859
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Renal insufficiency, Incr...	OMIM:613090
Fliedner-Zweier Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Ventricular septal defect, Hydronephrosi...	OMIM:620511
Aapoaiv Amyloidosis	Chronic kidney disease, Renal amyloidosis, Elevated circulating creatinine concentration, Hyperli...	ORPHA:439232
Distal Deletion 15Q	Hypoplastic left heart, Abnormal aortic arch morphology, Multicystic kidney dysplasia, Double out...	ORPHA:1596
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal corticomedu...	OMIM:602522
Pseudo-Torch Syndrome 1	Elevated circulating hepatic transaminase concentration, Decreased liver function, Renal insuffic...	OMIM:251290
Apparent Mineralocorticoid Excess	Nephrocalcinosis, Renal insufficiency, Decreased circulating renin level, Hypokalemia, Left ventr...	ORPHA:320
Diets-Jongmans Syndrome	Hypospadias, Heterotaxy, Interrupted inferior vena cava with azygous continuation, Ventricular se...	OMIM:618846
Insulinoma	Abnormality of the pancreatic islet cells, Lethargy, Pituitary prolactin cell adenoma, Primary hy...	ORPHA:97279
Nephrolithiasis, Calcium Oxalate, 1	Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr...	OMIM:167030
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Lethargy, Feeding difficulties, Ethylmalonic aciduria	OMIM:201470
Marburg Hemorrhagic Fever	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Ele...	ORPHA:99826
Liddle Syndrome 1	Hypokalemia, Renal insufficiency, Decreased circulating renin level	OMIM:177200
Familial Mediterranean Fever	Renal amyloidosis, Diarrhea, Vomiting, Stage 5 chronic kidney disease, Splenomegaly, Chronic cons...	OMIM:249100
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Stage 5 chronic kidney disease, Hepatic cysts	OMIM:613819
Acrorenal-Mandibular Syndrome	Absent nipple, Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidn...	OMIM:200980
Neurodegeneration And Seizures Due To Copper Transport Defect	Abnormal circulating copper concentration, Abnormal circulating ceruloplasmin concentration, Glan...	OMIM:620306
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Pigment gallstones, Abnormality of the spleen, Jaundice	ORPHA:232
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Hepatomegaly, Dysphag...	OMIM:219800
Joubert Syndrome 9	Hepatic fibrosis, Stage 5 chronic kidney disease	OMIM:612285
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Trisomy 8P	Nephrocalcinosis, Annular pancreas, Cryptorchidism, Hydronephrosis, Aplasia/Hypoplasia of the gal...	ORPHA:264450
Primary Fanconi Renotubular Syndrome	Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Decreased circulating carnitine co...	ORPHA:3337
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Cryptorchidism, Constipation, Fetal ...	ORPHA:73246
Renal Agenesis	Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins...	ORPHA:411709
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hypospadias, Cryptorchidism, Lactose intolerance, Protuberant abdomen, Intestinal polyp	ORPHA:457485
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect	OMIM:243440
Snakebite Envenomation	Acute kidney injury, Vomiting, Diarrhea, Neuromuscular dysphagia, Pseudobulbar paralysis, Hypopit...	ORPHA:449285
Dahlberg-Borer-Newcomer Syndrome	Nephropathy, Hypoparathyroidism, Renal insufficiency, Hypocalcemia	ORPHA:1563
Pancreatic Triacylglycerol Lipase Deficiency	Diarrhea, Exocrine pancreatic insufficiency, Colitis, Abdominal distention, Steatorrhea, Abdomina...	ORPHA:309031
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Cholelithiasis, Hepatosplenomegaly, Cholecystitis, Chronic constipation, Hepatomegaly	OMIM:301066
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom...	OMIM:618348
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Short-Rib Thoracic Dysplasia 12	Periportal fibrosis, Renal hypoplasia, Hamartoma of tongue, Intestinal malrotation, Ascites, Medi...	OMIM:269860
Peroxisome Biogenesis Disorder 8A (Zellweger)	Ventricular septal defect	OMIM:614876
Amelogenesis Imperfecta, Type Ig	Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis	OMIM:204690
Diffuse Cutaneous Systemic Sclerosis	Oliguria, Gastroesophageal reflux, Malabsorption, Nausea and vomiting, Renal insufficiency, Abnor...	ORPHA:220393
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Hyperbilirubinemia, Renal insufficiency	ORPHA:713
Microphthalmia, Syndromic 9	Hypoplastic left atrium, Right aortic arch with mirror image branching, Renal hypoplasia, Renal m...	OMIM:601186
Pericardial And Diaphragmatic Defect	Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Mit...	ORPHA:2847
8Q12 Microduplication Syndrome	Vesicoureteral reflux, Atrial septal defect, Ventricular septal defect	ORPHA:228399
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hepatosplenomegaly, Abdominal distention	ORPHA:93352
Multiple Endocrine Neoplasia Type 1	Diarrhea, Pituitary prolactin cell adenoma, Pituitary thyrotropic cell adenoma, Pituitary null ce...	ORPHA:652
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Hypocalcemia, Hypophosphatemia, Protuberant abdomen, Hypocalcemic seiz...	OMIM:264700
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Gastroesophageal reflux, Feeding difficulties, Abdominal distention	OMIM:620275
Diarrhea 1, Secretory Chloride, Congenital	Secretory diarrhea, Hypokalemia, Hyponatremia, Abdominal distention, Hypochloremia, Increased cir...	OMIM:214700
Bohring-Opitz Syndrome	Cholelithiasis, Vomiting, Annular pancreas, Urinary retention, Nephroblastoma, Cardiomegaly, Feed...	ORPHA:97297
Exercise-Induced Malignant Hyperthermia	Acute kidney injury, Oliguria, Hyperphosphatemia, Hepatic failure, Decreased liver function, Vomi...	ORPHA:466650
Kleefstra Syndrome	Gastroesophageal reflux, Supernumerary nipple, Vesicoureteral reflux, Renal insufficiency, Crypto...	ORPHA:261494
Helix Syndrome	Hypermagnesemia, Hyperparathyroidism, Hypocalciuria, Renal insufficiency, Nephrolithiasis, Hypoka...	OMIM:617671
Kleefstra Syndrome Due To 9Q34 Microdeletion	Depression, Renal insufficiency, Vesicoureteral reflux, Cryptorchidism, Apathy, Abnormal testis m...	ORPHA:96147
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Anencephaly, Spina bifida, Ventricular septal defect	ORPHA:2476
Steinfeld Syndrome	Absent gallbladder, Unilateral renal dysplasia	OMIM:184705
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Gastroesophageal reflux, Microgastria, Renal agenesis, Horseshoe ki...	ORPHA:2538
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Diarrhea, Vomiting, Hepatitis, Recurrent urinary tract infections, Elevated circ...	ORPHA:36234
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Diarrhea, Vomiting, Anuria, Acute colitis, Elevated circulating creatinine c...	ORPHA:90038
Lymphedema-Hypoparathyroidism Syndrome	Nephropathy, Renal insufficiency, Hypoparathyroidism	OMIM:247410
Lymphangiectasia, Pulmonary, Congenital	Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali...	OMIM:265300
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal hypoplasia, Renal insufficiency, Cryptorchidism, Hypoplasia of penis, Renal dysplasia	ORPHA:85321
Phosphoglycerate Kinase 1 Deficiency	Exercise-induced myoglobinuria, Renal insufficiency	OMIM:300653
Avian Influenza	Hypoalbuminemia, Acute kidney injury, Elevated circulating hepatic transaminase concentration, Di...	ORPHA:454836
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Vomiting, Renal insufficiency, Hyperalaninemia, Increased serum pyruvate, Mild proteinuria	OMIM:619147
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatic failure, Vomiting, 3-hydroxydicarboxylic aciduria, Splenomegaly, Lethargy, Feeding diffic...	OMIM:252010
Platyspondylic Dysplasia, Torrance Type	Cleft palate, Abdominal distention	ORPHA:85166
Colchicine Poisoning	Oliguria, Diarrhea, Vomiting, Hypomagnesemia, Renal insufficiency, Hypocalcemia, Hypokalemia, Hyp...	ORPHA:31824
Trisomy 10P	Gastroesophageal reflux, Absent gallbladder, Multiple renal cysts, Abnormality of the kidney, Dys...	ORPHA:171929
Femoral-Facial Syndrome	Abnormal renal collecting system morphology, Renal agenesis, Truncus arteriosus, Ventricular sept...	OMIM:134780
Bartter Syndrome Type 4	Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Vomiting, Hypomagnesemia, Nasogast...	ORPHA:89938
Helsmoortel-Van Der Aa Syndrome	Enuresis nocturna, Gastroesophageal reflux, Recurrent urinary tract infections, Decreased respons...	OMIM:615873
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Renal hypoplasia, Tetralogy of Fallot, Muscular ventricular septal defect, Patent foramen ovale, ...	OMIM:210710
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperparathyroidis...	OMIM:620366
Simple Cryoglobulinemia	Nephritis, Gastrointestinal hemorrhage, Renal insufficiency, Mesangial hypercellularity, Proteinu...	ORPHA:91139
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Renal ...	ORPHA:139402
46,Xx Sex Reversal 5	Hypoplastic left heart, Secundum atrial septal defect, Urogenital sinus anomaly, Ventricular sept...	OMIM:618901
Matthew-Wood Syndrome	Renal hypoplasia, Annular pancreas, Horseshoe kidney, Vesicoureteral reflux, Cryptorchidism, Abno...	ORPHA:2470
Restrictive Dermopathy	Transposition of the great arteries, Atrial septal defect, Dextrocardia, Ureteral duplication, Hy...	ORPHA:1662
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Feeding difficulties in infancy, Gastroesophageal reflux, Chronic c...	OMIM:618829
Mmep Syndrome	Ventricular septal defect	ORPHA:3434
Hadziselimovic Syndrome	Ventricular hypertrophy, Renal hypoplasia, Tetralogy of Fallot, Ventricular septal defect, Atrial...	OMIM:612946
Alagille Syndrome 1	Focal segmental glomerulosclerosis, Renal hypoplasia, Hepatic failure, Elevated circulating hepat...	OMIM:118450
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level, Ventricula...	OMIM:616277
Magel2-Related Prader-Willi-Like Syndrome	Small pituitary gland, Gastroesophageal reflux, Nasogastric tube feeding, Decreased testicular si...	ORPHA:398069
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect	OMIM:619980
Histiocytoid Cardiomyopathy	Vomiting, Polycystic ovaries, Cardiomegaly, Renal cyst, Lethargy, Hepatomegaly	ORPHA:137675
Trisomy 13	Abnormality of the ureter, Displacement of the urethral meatus, Ventricular septal defect, Hydron...	ORPHA:3378
Mercury Poisoning	Acute kidney injury, Hypokalemia, Episodic abdominal pain, Episodic vomiting, Anorexia, Nausea	ORPHA:330021
Left Ventricular Noncompaction 1	Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop...	OMIM:604169
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Bifid ureter, Nephroblastoma, Renal malrotation, Enlarged kidney	ORPHA:500095
Craniofacioskeletal Syndrome	Hydronephrosis, Hypospadias, Absent gallbladder, Cryptorchidism	OMIM:300712
Cranioectodermal Dysplasia 1	Chronic kidney disease, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hepatic failu...	OMIM:218330
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Nephrocalcinosis, Restrictive cardiomyopathy, Hydroureter, Ureteral stenosis, Renal cyst, Hyperca...	OMIM:615398
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria, Hypocalcemia, Splenomegaly, Hypophosphatemia, Protuberant abdomen, Hep...	ORPHA:289157
Distal Limb Deficiencies-Micrognathia Syndrome	Proteinuria, Renal hypoplasia, Renal insufficiency, Cryptorchidism	ORPHA:1307
Coenzyme Q10 Deficiency, Primary, 7	Hypoplastic left heart, Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:616276
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Renal agenesis, Ventricular septal defect, Atr...	OMIM:220500
Encephalitis Lethargica	Urinary incontinence, Lethargy, Bowel incontinence	ORPHA:83600
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Horseshoe kidney, Renal cyst, Cryptorchidism, Feeding difficulties	ORPHA:166035
Hurler Syndrome	Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Sple...	OMIM:607014
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Diarrhea, Hyperphosphatemia, Hematuria, Acute tubulointerstitial nephriti...	ORPHA:340
Gaucher Disease	Splenic infarction, Cholelithiasis, Hepatic failure, Hepatitis, Splenomegaly, Hematuria, Proteinu...	ORPHA:355
Tafro Syndrome	Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Hepatomegaly, Elevated circulating C-react...	ORPHA:457077
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Enlarged kidney, Feeding difficulties	OMIM:261740
Eosinophilic Granulomatosis With Polyangiitis	Gastroesophageal reflux, Malabsorption, Renal insufficiency, Nausea and vomiting, Intestinal obst...	ORPHA:183
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis	OMIM:618223
Galloway-Mowat Syndrome 10	Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ...	OMIM:619609
Li-Campeau Syndrome	Micropenis, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:619189
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Diarrhea, Vomiting, Increased circulating ferritin concentration, ...	OMIM:222700
Acute Adrenal Insufficiency	Diarrhea, Renal insufficiency, Nausea and vomiting, Hyperuricemia, Hyponatremia, Decreased urinar...	ORPHA:95409
Lymphatic Malformation 6	Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Genital edema, Pleural effusio...	OMIM:616843
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad...	OMIM:614527
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Ventricular septal defect	OMIM:613759
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Vomiting, Diarrhea, Lethargy, Left ventricular hypertrophy, Episodic vomiting	OMIM:618321
Ventricular Septal Defect 3	Atrial septal defect, Ventricular septal defect	OMIM:614432
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Aortic valve stenosis, Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Bicuspi...	OMIM:618164
Sim1-Related Prader-Willi-Like Syndrome	Small pituitary gland, Nasogastric tube feeding, Decreased testicular size, Cryptorchidism, Letha...	ORPHA:398079
Glycogen Storage Disease Due To Aldolase A Deficiency	Acute kidney injury, Myoglobinuria, Hyperkalemia, Elevated creatine kinase after exercise	ORPHA:57
X-Linked Acrogigantism	Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Adrenocorticot...	ORPHA:300373
Lujo Hemorrhagic Fever	Oliguria, Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Renal insu...	ORPHA:319213
Goodpasture Syndrome	Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein...	OMIM:233450
Mayer-Rokitansky-Kuster-Hauser Syndrome	Multicystic kidney dysplasia, Reduced renal corticomedullary differentiation, Polycystic ovaries,...	OMIM:277000
Multiple Myeloma	Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Functional abnor...	ORPHA:29073
Holoprosencephaly 13, X-Linked	Hypoplastic left heart, Patent foramen ovale, Ventricular septal defect, Double outlet right vent...	OMIM:301043
Mucopolysaccharidosis, Type Vii	Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Splenomegaly, Dermatan s...	OMIM:253220
Microphthalmia, Syndromic 2	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Double outlet right vent...	OMIM:300166
Maternal Uniparental Disomy Of Chromosome 2	Elevated amniotic fluid alpha-fetoprotein, Bilateral cryptorchidism, Decreased response to growth...	ORPHA:96179
Familial Dysautonomia	Gastroesophageal reflux, Renal insufficiency, Hyponatremia, Glomerulopathy, Feeding difficulties ...	ORPHA:1764
Kyphoscoliotic Ehlers-Danlos Syndrome	Subdural hemorrhage, Bicuspid aortic valve, Aortic aneurysm, Bladder diverticulum, Dextrocardia, ...	ORPHA:536545
Poland Syndrome	Renal hypoplasia, Ureterocele, Vesicoureteral reflux, Renal hypoplasia/aplasia, Atrial septal def...	ORPHA:2911
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Cleft palate, Protuberant abdomen	OMIM:184250
Severe Generalized Junctional Epidermolysis Bullosa	Multicystic kidney dysplasia, Vomiting, Hydroureter, Ureterocele, Urinary retention, Recurrent ur...	ORPHA:79404
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Ventricular sep...	OMIM:613404
Yellow Fever	Acute kidney injury, Diarrhea, Vomiting, Anuria, Pancreatic hyperplasia, Elevated circulating cre...	ORPHA:99829
Multiple Mitochondrial Dysfunctions Syndrome 7	Decreased liver function, Feeding difficulties, Hyperglycinemia, Lethargy, Hypernatremia, Poor suck	OMIM:620423
Global Developmental Delay With Or Without Impaired Intellectual Development	Hypospadias, Atrial septal defect, Ventricular septal defect	OMIM:618330
Tetrasomy 9P	Recurrent urinary tract infections, Juxtaductal coarctation of the aorta, Horseshoe kidney, Abnor...	ORPHA:3310
Ring Chromosome 7 Syndrome	Hypospadias, Situs inversus totalis	ORPHA:1449
Isotretinoin-Like Syndrome	Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,...	ORPHA:2306
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Protuberant abdomen	OMIM:613330
Hereditary Hemorrhagic Telangiectasia	Cholelithiasis, Hepatic failure, Gastrointestinal hemorrhage, Portal hypertension, Cholecystitis,...	ORPHA:774
Biotinidase Deficiency	Lethargy, Organic aciduria, Hyperammonemia	ORPHA:79241
Aromatic L-Amino Acid Decarboxylase Deficiency	Diarrhea, Gastroesophageal reflux, Lethargy, Constipation, Feeding difficulties in infancy	OMIM:608643
Roberts Syndrome	Long penis, Polycystic kidney dysplasia, Cryptorchidism	ORPHA:3103
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hepatic failure, Decreased liver function, Hypersplenism, Splenomegaly, Neoplasm ...	ORPHA:77293
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormality...	ORPHA:36426
Cat Eye Syndrome	Hypoplastic left heart, Total anomalous pulmonary venous return, Renal agenesis, Tetralogy of Fal...	OMIM:115470
Frank-Ter Haar Syndrome	Secundum atrial septal defect, Mitral valve prolapse, Ventricular septal defect, Patent foramen o...	OMIM:249420
Fibrochondrogenesis 2	Protuberant abdomen	OMIM:614524
Fadd-Related Immunodeficiency	Ventricular septal defect	ORPHA:306550
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:3469
Combined Oxidative Phosphorylation Deficiency 55	Proximal tubulopathy, Organic aciduria, Hypomagnesemia, Stage 3 chronic kidney disease, Medullary...	OMIM:619743
Fabry Disease	Nephropathy, Depression, Abnormal circulating lipid concentration, Malabsorption, Hyperlipidemia,...	ORPHA:324
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormal localization of kidney, Absent gallbladder, Renal hypoplasia/aplasia	ORPHA:3186
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Nephropathy, Chronic kidney disease, Gastroesophageal reflux, Vomiting, Nasogastric tube feeding,...	ORPHA:1018
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Cryptorchidism, Hydronephrosis, Micropenis, Hypospadias	ORPHA:163979
Achondrogenesis, Type Ii	Cleft palate, Protuberant abdomen, Stillbirth	OMIM:200610
Complement Factor I Deficiency	Pyelonephritis, Renal insufficiency, Glomerulonephritis, Recurrent urinary tract infections	OMIM:610984
Generalized Pustular Psoriasis	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Renal insufficiency, Hy...	ORPHA:247353
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Abnormality of the liver, Renal in...	ORPHA:97214
14Q24.1Q24.3 Microdeletion Syndrome	Abnormal heart morphology, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, E...	ORPHA:401935
Catel-Manzke Syndrome	Overriding aorta, Coarctation of aorta, Dextrocardia, Ventricular septal defect	OMIM:616145
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Pancreatic aplasia	ORPHA:556955
Primary Hyperoxaluria	Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Elevated circulatin...	ORPHA:416
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormality...	ORPHA:537
Basal Ganglia Disease, Biotin-Thiamine Responsive	Lethargy, Vomiting, Dysphagia	OMIM:607483
Congenital Disorder Of Glycosylation, Type Iig	Renal insufficiency, Cryptorchidism, Hydronephrosis, Left ventricular hypertrophy, Feeding diffic...	OMIM:611209
Bardet-Biedl Syndrome 9	Renal insufficiency	OMIM:615986
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Chronic kidney disease, Renal insufficiency, Abnormal renal glomerulus morphology, Membranoprolif...	OMIM:137940
Ogden Syndrome	Lethargy, Cryptorchidism	ORPHA:276432
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Atrial septal defect, Pulmonic stenosis, Ventricular septal defect	OMIM:614262
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, Perimembranous ven...	OMIM:612474
Schneckenbecken Dysplasia	Cleft palate, Protuberant abdomen, Stillbirth	OMIM:269250
Enamel-Renal Syndrome	Nephropathy, Nephrocalcinosis, Hypocalciuria, Hypophosphaturia, Renal insufficiency, Impaired ren...	ORPHA:1031
Fanconi Anemia, Complementation Group Q	Biliary atresia	OMIM:615272
Pallister-Hall Syndrome	Renal hypoplasia, Microglossia, Hydroureter, Anteriorly placed anus, Decreased response to growth...	OMIM:146510
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Renal hypoplasia, Cryptorchidism, Congenital hepatic fibrosis, Hydronephrosis, Renal cyst, Abdomi...	ORPHA:93271
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hypoplastic left heart, Unilateral renal agenesis, Mitral atresia, Muscular ventricular septal de...	OMIM:619503
Complete Atrioventricular Septal Defect	Cardiomegaly, Lethargy, Hepatomegaly, Right ventricular hypertrophy, Feeding difficulties	ORPHA:1329
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Unilateral renal agenesis, Crossed fused renal ectopia, Ventricular septal defect, Atrial septal ...	OMIM:618142
Glycine Encephalopathy	Lethargy, Hyperglycinemia, Poor suck	ORPHA:407
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Staphylococcal Necrotizing Pneumonia	Elevated circulating C-reactive protein concentration, Lethargy	ORPHA:36238
16P12.1P12.3 Triplication Syndrome	Decreased response to growth hormone stimulation test, Abnormal intrahepatic bile duct morphology...	ORPHA:485405
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Protuberant abdomen	OMIM:617102
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Depression, Elevated circul...	ORPHA:95455
Humeroradial Synostosis	Renal insufficiency	OMIM:236400
Kasabach-Merritt Phenomenon	Abdominal pain, Hepatic hemangioma, Abdominal distention	ORPHA:2330
Neuroleptic Malignant Syndrome	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Hyperphosphatemia, ...	ORPHA:94093
Joubert Syndrome 1	Nephropathy, Hepatic fibrosis, Renal cyst	OMIM:213300
Sifrim-Hitz-Weiss Syndrome	Tetralogy of Fallot, Vesicoureteral reflux, Renal insufficiency, Ventricular septal defect, Atria...	OMIM:617159
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Chronic kidney disease, Depression, Abnormal circulating selenium concentration, IgA deposition i...	ORPHA:79408
Trisomy 1Q	Multicystic kidney dysplasia, Ventricular septal defect, Hydronephrosis, Congenital megaureter, P...	ORPHA:261344
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Hydronephrosis, Urethral atresia, Abdominal distention	OMIM:271520
Zttk Syndrome	Unilateral renal agenesis, Horseshoe kidney, Absent gallbladder, Feeding difficulties in infancy,...	OMIM:617140
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Nephrocalcinosis, Abnormality of the urinary system, Gastroesophageal reflux, Renal cyst, Hyperca...	ORPHA:369837
Phosphoribosylpyrophosphate Synthetase Superactivity	Urolithiasis, Renal insufficiency, Cryptorchidism, Hyperuricemia, Hyperuricosuria, Uric acid neph...	OMIM:300661
Feingold Syndrome Type 1	Nephritis, Abnormal heart morphology, Horseshoe kidney, Multiple muscular ventricular septal defe...	ORPHA:391641
Immunoglobulin A Vasculitis	Gastrointestinal hemorrhage, Gastrointestinal infarctions, Renal insufficiency, Nausea and vomiti...	ORPHA:761
Alstrom Syndrome	Nephritis, Elevated circulating hepatic transaminase concentration, Chronic active hepatitis, Dec...	OMIM:203800
Serkal Syndrome	Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Ventricular septal defect, ...	ORPHA:139466
Ethylene Glycol Poisoning	Vomiting, Renal insufficiency, Hypocalcemia, Renal tubular dysfunction, Hematuria, Decreased urin...	ORPHA:31826
Alternating Hemiplegia Of Childhood	Diarrhea, Vomiting, Oral-pharyngeal dysphagia, Anorexia, Gastrointestinal dysmotility, Constipati...	ORPHA:2131
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Diarrhea, Malabsorption, Renal insufficiency, Splenomegaly, Anorexia...	ORPHA:33226
Cardiac Valvular Dysplasia 1	Valvular pulmonary stenosis, Tricuspid stenosis, Muscular ventricular septal defect, Hypoplasia o...	OMIM:212093
Simpson-Golabi-Behmel Syndrome, Type 1	Total anomalous pulmonary venous return, Duplication of renal pelvis, Cardiomyopathy, Right ventr...	OMIM:312870
Subaortic Stenosis-Short Stature Syndrome	Biliary tract abnormality	ORPHA:3191
Cystic Fibrosis	Biliary cirrhosis, Diarrhea, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Ileus, Cirrho...	OMIM:219700
Thanatophoric Dysplasia, Type I	Protuberant abdomen, Neonatal death	OMIM:187600
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Cryptorchidism, Nephroblastoma, Renal cyst, Feeding difficulties in...	OMIM:257300
Isolated Klippel-Feil Syndrome	Renal hypoplasia/aplasia, Spina bifida, Ventricular septal defect	ORPHA:2345
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Pseudo-Torch Syndrome 3	Proteinuria, Acute kidney injury, Cardiomegaly, Increased circulating ferritin concentration	OMIM:618886
Severe Acute Respiratory Syndrome	Acute kidney injury	ORPHA:140896
Digeorge Syndrome	Unilateral renal agenesis, Cholelithiasis, Gastroesophageal reflux, Parathyroid hypoplasia, Renal...	OMIM:188400
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Renal hypoplasia/aplasia, Truncus arteriosus, Renal agenesis, Ventricular septal defect	ORPHA:2516
Vitamin D-Dependent Rickets, Type 2A	Hypocalcemic seizures, Hypophosphatemia, Secondary hyperparathyroidism, Protuberant abdomen	OMIM:277440
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hepatic fibrosis, Cholelithiasis, Abnormality of the spleen, Hepatosplenomegaly, Splenomegaly, Fe...	ORPHA:2072
Fryns Syndrome	Abnormal aortic arch morphology, Multicystic kidney dysplasia, Tetralogy of Fallot, Vesicouretera...	ORPHA:2059
Calciphylaxis	Stage 5 chronic kidney disease, Hyperphosphatemia, Secondary hyperparathyroidism	ORPHA:280062
Infection-Related Hemolytic Uremic Syndrome	Acute kidney injury, Oliguria, Diarrhea, Anuria, Vomiting, Secretory diarrhea, Acute colitis, Gas...	ORPHA:544482
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Chronic kidney disease, Decreased glomerular filtration rate, Proteinuria, Tubulointerstitial nep...	ORPHA:488627
Cornelia De Lange Syndrome 1	High, narrow palate, Renal hypoplasia, Gastroesophageal reflux, Reduced renal corticomedullary di...	OMIM:122470
Systemic Sclerosis	Chronic kidney disease, Acute kidney injury, Intestinal bleeding, Gastroesophageal reflux, Gastro...	ORPHA:90291
Joubert Syndrome 14	Renal cyst, Intracranial hemorrhage, Ventricular septal defect	OMIM:614424
Medulloblastoma	Lethargy, Elevated circulating hepatic transaminase concentration, Nausea and vomiting	ORPHA:616
Holoprosencephaly 14	Double outlet right ventricle, Aortic valve atresia, Ventricular septal defect	OMIM:619895
Neu-Laxova Syndrome 1	Renal agenesis, Patent foramen ovale, Ventricular septal defect, Transposition of the great arter...	OMIM:256520
Joubert Syndrome With Renal Defect	Nephropathy, Renal insufficiency, Feeding difficulties	ORPHA:220497
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616898
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Rhizomelic Limb Shortening With Dysmorphic Features	Stage 1 chronic kidney disease, Patent foramen ovale	OMIM:618821
Dyrk1A-Related Intellectual Disability Syndrome	Unilateral renal agenesis, Hypospadias, Gastroesophageal reflux, Vomiting, Breast hypoplasia, Cry...	ORPHA:464306
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism	ORPHA:2115
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Absent pulmonary artery, Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Mi...	OMIM:600460
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Renal dysplasia, Mitral stenosis, Renal cyst, Coarctation of aorta, Patent ductus arteriosus	OMIM:617260
Williams Syndrome	Nausea and vomiting, Cryptorchidism, Polycystic ovaries, Abdominal pain, Cholelithiasis, Gastroes...	ORPHA:904
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development	Ventricular septal defect	OMIM:209770
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Horseshoe kidney, Renal cyst, Feeding difficulties	OMIM:250410
Mucopolysaccharidosis Type 3	Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Malabsorption, Splenomeg...	ORPHA:581
Weill-Marchesani Syndrome	Aortic valve stenosis, Pulmonic stenosis, Ventricular septal defect	ORPHA:3449
Constricting Bands, Congenital	Bladder exstrophy, Ectopia cordis	OMIM:217100
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Umbilical hernia, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Bic...	ORPHA:500159
Hermansky-Pudlak Syndrome 1	Hematochezia, Inflammation of the large intestine, Renal insufficiency, Colitis, Abdominal pain	OMIM:203300
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Unilateral renal agenesis, Hypospadias, Gastroesophageal reflux, Vomiting, Cryptorchidism, Hydron...	ORPHA:464311
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplastic left heart, Hypoplasia of penis, Ventricular septal defect	ORPHA:2772
Developmental Delay With Or Without Dysmorphic Facies And Autism	Renal hypoplasia, Microphallus, Supernumerary nipple, Vesicoureteral reflux, Cryptorchidism, Hydr...	OMIM:618454
Exstrophy-Epispadias Complex	Penoscrotal transposition, Renal hypoplasia, Bladder exstrophy, Horseshoe kidney, Abnormality of ...	ORPHA:322
Refsum Disease	Renal insufficiency, Splenomegaly	ORPHA:773
Johanson-Blizzard Syndrome	Dilated cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Hydronephrosis, Vascul...	OMIM:243800
Khan-Khan-Katsanis Syndrome	Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Ureteral duplication, Dyspha...	OMIM:618460
Severe Oculo-Renal-Cerebellar Syndrome	Proteinuria, Glomerulopathy, Renal insufficiency	ORPHA:2715
Oculocerebrorenal Syndrome Of Lowe	Cryptorchidism, Hematuria, Feeding difficulties in infancy, Hypophosphatemia, Proximal renal tubu...	ORPHA:534
Mitochondrial Complex I Deficiency, Nuclear Type 29	Vomiting, Stage 5 chronic kidney disease, Hyperalaninemia, Lacticaciduria	OMIM:618250
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:617044
Atelosteogenesis Type I	Multiple renal cysts, Abnormal pancreatic duct morphology	ORPHA:1190
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Large intestinal polyposis, Multiple renal cysts, Adenomatous colonic polypos...	ORPHA:220460
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Umbilical hernia, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Abnorma...	ORPHA:329224
Cerebrotendinous Xanthomatosis	Prolonged neonatal jaundice, Cholelithiasis, Chronic diarrhea	ORPHA:909
Penile Agenesis	Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, V...	ORPHA:49
Thauvin-Robinet-Faivre Syndrome	Bifid ureter, Nephroblastoma, Mitral valve prolapse, Ventricular septal defect, Renal cyst, Varic...	OMIM:617107
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Exocrine pancreatic insufficiency, Absent gallbladder, Elevated circulating alanine aminotransfer...	OMIM:618500
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Hypopituitarism, Decreased response to growth hormone stimulation te...	ORPHA:226307
Kawasaki Disease	Vasculitis, Sterile pyuria, Double outlet right ventricle with subpulmonary ventricular septal de...	ORPHA:2331
Fryns Syndrome	Ectopic pancreatic tissue, Meckel diverticulum, Renal agenesis, Polysplenia, Intestinal malrotati...	OMIM:229850
Acute Generalized Exanthematous Pustulosis	Cholestasis, Elevated circulating hepatic transaminase concentration, Renal insufficiency	ORPHA:293173
Donnai-Barrow Syndrome	Proteinuria, Ventricular septal defect, Umbilical hernia	ORPHA:2143
Acute Liver Failure	Acute kidney injury, Depression, Elevated circulating hepatic transaminase concentration, Hepatit...	ORPHA:90062
Galloway-Mowat Syndrome 9	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, ...	OMIM:619603
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Protuberant abdomen, Stillbirth	OMIM:151210
Genitopatellar Syndrome	Multicystic kidney dysplasia, Gastroesophageal reflux, Cryptorchidism, Hydronephrosis, Feeding di...	ORPHA:85201
Immunodeficiency 96	Multicystic kidney dysplasia	OMIM:619774
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Unilateral renal agenesis, Renal hypoplasia, Abnormal heart morphology, Patent foramen ovale, Ven...	OMIM:618494
Joubert Syndrome 2	Renal cyst, Nephronophthisis, Renal insufficiency	OMIM:608091
Hand-Foot-Genital Syndrome	Pyelonephritis, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction obstruction, C...	OMIM:140000
Xfe Progeroid Syndrome	Hypoalbuminemia, Proteinuria, Elevated circulating hepatic transaminase concentration, Renal insu...	OMIM:610965
Erdheim-Chester Disease	Nausea and vomiting, Renal insufficiency, Hydronephrosis, Abdominal pain, Dysuria, Retroperitonea...	ORPHA:35687
Steinert Myotonic Dystrophy	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Diarrhea, Intestinal pse...	ORPHA:273
Malignant Hyperthermia Of Anesthesia	Acute kidney injury, Hyperphosphatemia, Acute hepatic failure, Myoglobinuria, Hyperkalemia, Eleva...	ORPHA:423
Lamellar Ichthyosis	Renal insufficiency	ORPHA:313
Ring Chromosome 13 Syndrome	Urogenital sinus anomaly, Hypoplasia of the gallbladder, Micropenis, Hypospadias, Abnormal renal ...	ORPHA:96176
Holoprosencephaly-Caudal Dysgenesis Syndrome	Renal insufficiency	ORPHA:2165
Galloway-Mowat Syndrome 1	Hypoalbuminemia, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Diffuse me...	OMIM:251300
Hyperoxaluria, Primary, Type I	Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Elevated urinary glycolic acid l...	OMIM:259900
Joubert Syndrome 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:608629
Viss Syndrome	Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Mitral valve prolapse, V...	OMIM:619472
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Hypospadias, Long penis, Horseshoe kidney, Cryptorchidism, Biliary tract abnorm...	OMIM:268300
Holt-Oram Syndrome	Hypoplastic left heart, Secundum atrial septal defect, Abdominal situs inversus, Muscular ventric...	OMIM:142900
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Renal hypoplasia, Hamartoma of tongue, Cryptorchidism, Renal cyst, Stillbirth, Bifid tongue, Anal...	OMIM:616300
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Small pituitary gland, Protuberant abdomen, Micropenis, Tube feeding, Hypospadias, Feeding diffic...	OMIM:619479
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Renal hypoplasia, Hypoplasia of penis, Ventricular septal defect	ORPHA:2256
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of the submandibular glands, ...	ORPHA:449432
Cardiofaciocutaneous Syndrome 3	Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect	OMIM:615279
Hellp Syndrome	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Vomiting, Proteinur...	ORPHA:244242
Microcephaly-Capillary Malformation Syndrome	Vesicoureteral reflux, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Rig...	OMIM:614261
Nail-Patella Syndrome	Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Renal insuffic...	ORPHA:2614
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Ureteral stenosis, Renal insufficiency, Nausea and vomiting, Intesti...	ORPHA:900
Intellectual Developmental Disorder, Autosomal Recessive 71	Micropenis, Unilateral renal agenesis, Ventricular septal defect	OMIM:618504
Burn-Mckeown Syndrome	Unilateral renal agenesis, Renal hypoplasia, Atrial septal defect, Ventricular septal defect	OMIM:608572
Trisomy 20P	Abnormality of the ureter, Cryptorchidism, Hydronephrosis, Multiple renal cysts, Macroorchidism, ...	ORPHA:261318
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Micropenis, Absent gallbladder	OMIM:617925
Opsismodysplasia	Renal phosphate wasting, Hypophosphatemia, Protuberant abdomen	OMIM:258480
Fibrochondrogenesis 1	Cleft palate, Protuberant abdomen, Stillbirth	OMIM:228520
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Proteinuria, Tubulointerstitial nephritis, Ventricular septal defect	OMIM:616901
Tatton-Brown-Rahman Syndrome	Vesicoureteral reflux, Ventricular septal defect, Atrial septal defect, Umbilical hernia	OMIM:615879
Neurooculocardiogenitourinary Syndrome	Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:618652
Kufor-Rakeb Syndrome	Lethargy, Apathy, Urinary incontinence, Bradykinesia, Dysphagia, Bowel incontinence	ORPHA:306674
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Complete atrioventricular canal defect	ORPHA:476126
Serotonin Syndrome	Nausea, Acute kidney injury, Diarrhea, Hepatic failure	ORPHA:43116
Cockayne Syndrome Type 3	Unilateral renal agenesis, Renal hypoplasia, Elevated circulating hepatic transaminase concentrat...	ORPHA:90324
Ulbright-Hodes Syndrome	Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia, Cryptorchidism	ORPHA:3404
Leopard Syndrome 1	Unilateral renal agenesis, Hypertrophic cardiomyopathy, Complete atrioventricular canal defect, M...	OMIM:151100
Adams-Oliver Syndrome 6	Truncus arteriosus, Renal hypoplasia, Ventricular septal defect	OMIM:616589
Cocaine Intoxication	Acute kidney injury, Vomiting, Gastrointestinal infarctions, Elevated circulating creatine kinase...	ORPHA:90068
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Hepatomegaly, Reduced pancreatic beta cells, Renal insufficiency	OMIM:226980
Microsporidiosis	Nephritis, Vomiting, Hepatitis, Abnormality of the parathyroid gland, Urethritis, Abnormality of ...	ORPHA:2552
Zygomycosis	Nephritis, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Hematochezia, Renal insuff...	ORPHA:73263
Fanconi Anemia, Complementation Group I	Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Patent foramen ovale, Ventricular sept...	OMIM:609053
Charge Syndrome	Renal hypoplasia, Secundum atrial septal defect, Renal agenesis, Tetralogy of Fallot, Horseshoe k...	OMIM:214800
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect	OMIM:614435
Orotic Aciduria	Oroticaciduria, Ventricular septal defect, Hematuria, Atrial septal defect, Orotic acid crystalluria	OMIM:258900
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Conotruncal defect	ORPHA:40366
3C Syndrome	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect...	ORPHA:7
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Supernumerary nipple, Decreased testicular size, Hydronephrosis, Hi...	ORPHA:261349
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Abnormal heart morphology, Tetralogy of Fallot, Abnormal inf...	ORPHA:980
Meier-Gorlin Syndrome 7	Vesicoureteral reflux, Complete atrioventricular canal defect, Ventricular septal defect, Urethra...	OMIM:617063
Lethal Congenital Contracture Syndrome 2	Hydronephrosis, Dilated cardiomyopathy, Ventricular septal defect	OMIM:607598
Oculoauriculofrontonasal Syndrome	Encephalocele, Ventricular septal defect	ORPHA:398156
Joubert Syndrome With Oculorenal Defect	Nephropathy, Renal insufficiency	ORPHA:2318
Semilobar Holoprosencephaly	Depression, Gastroesophageal reflux, Vomiting, Decreased response to growth hormone stimulation t...	ORPHA:220386
Alobar Holoprosencephaly	Depression, Gastroesophageal reflux, Vomiting, Decreased response to growth hormone stimulation t...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Depression, Gastroesophageal reflux, Vomiting, Decreased response to growth hormone stimulation t...	ORPHA:93926
Lobar Holoprosencephaly	Depression, Gastroesophageal reflux, Vomiting, Decreased response to growth hormone stimulation t...	ORPHA:93924
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Dilatation of the renal pelvis, Dilatation of the bladder, Ventricular septal defect, Bicuspid ao...	OMIM:265380
Martin-Probst Syndrome	Renal insufficiency, Cryptorchidism, Proteinuria, Chordee, Hypoplastic nipples, Micropenis	OMIM:300519
Trichinellosis	Nausea, Lethargy, Apathy, Dysphagia	ORPHA:863
Greenberg Dysplasia	Hepatosplenomegaly, Pancreatic islet-cell hyperplasia, Neonatal death, Hepatic calcification, Pro...	OMIM:215140
2Q37 Microdeletion Syndrome	Pyloric stenosis, Multicystic kidney dysplasia, Nephroblastoma, Supernumerary nipple	ORPHA:1001
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Abnormal heart morphology, Ventricular septal defect, Bicuspid aortic va...	ORPHA:284169
Atelosteogenesis, Type I	Cryptorchidism, Neonatal death, Protuberant abdomen, Stillbirth, Cleft palate	OMIM:108720
Amoebiasis Due To Free-Living Amoebae	Intrarenal abscess, Nausea, Lethargy, Vomiting	ORPHA:68
Grange Syndrome	Ventricular septal defect	ORPHA:79094
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Renal hypoplasia/aplasia, Abnormality of the ureter, Ventricular septal defect, Umbilical hernia	ORPHA:1770
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts, Elevated circulating creati...	OMIM:618733
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia	ORPHA:3015
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Renal insufficiency, Abnormal aortic valve morphology, Proteinuria, Glomerulopathy, Microscopic h...	ORPHA:86818
Sarcoidosis	Hepatic failure, Nephrocalcinosis, Decreased liver function, Parotitis, Enlargement of parotid gl...	ORPHA:797
Beaulieu-Boycott-Innes Syndrome	Horseshoe kidney, Unilateral renal agenesis, Recurrent urinary tract infections, Ventricular sept...	OMIM:613680
Alkaptonuria	Aminoaciduria, Elevated urinary homogentisic acid, Dark urine, Black pigment gallstones, Nephroli...	ORPHA:56
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Gastroesophageal reflux, Annular pancreas, Furrowed tongue, Vesicoureteral reflux, Cryptorchidism...	OMIM:616975
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral renal agenesis, Gastroesophageal reflux, Horseshoe kidney, Gastroparesis, Absent gallb...	ORPHA:500150
Bardet-Biedl Syndrome	Chronic kidney disease, Hepatic fibrosis, Inflammation of the large intestine, Depression, Elevat...	ORPHA:110
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Renal agenesis, Mitral atresia, Horseshoe kidney, Renal insufficiency, Vesicoureteral reflux, Abn...	ORPHA:140952
Branchio-Oculo-Facial Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Renal agenesis	ORPHA:1297
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Micropenis, Atrial septal defect, Ventricular septal defect	OMIM:613870
Distal Deletion 10Q	Acute kidney injury, Functional abnormality of the bladder, Horseshoe kidney, Vesicoureteral refl...	ORPHA:96148
Lethal Kniest-Like Dysplasia	Cleft palate, Protuberant abdomen	ORPHA:2347
Fixed Subaortic Stenosis	Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep...	ORPHA:3092
Nail-Patella Syndrome	Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Nephrotic syndrome	OMIM:161200
Noonan Syndrome 9	Hydroureter, Pulmonic stenosis, Ventricular septal defect	OMIM:616559
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Gastroesophageal reflux, Acute hepatic failure, Horseshoe kidney, R...	ORPHA:2092
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Pulmonic stenosis, Abdominal situs inversus, Ventricular septal de...	OMIM:619123
Tuberous Sclerosis 1	Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Renal angiomyolipoma, Renal cyst, Renal cell...	OMIM:191100
Cockayne Syndrome	Unilateral renal agenesis, Renal hypoplasia, Elevated circulating hepatic transaminase concentrat...	ORPHA:191
Kleefstra Syndrome 1	Micropenis, Hypospadias, Conotruncal defect, Abnormal renal morphology	OMIM:610253
Craniofacial Dyssynostosis With Short Stature	Horseshoe kidney, Hypospadias, Ventricular septal defect	OMIM:218350
1P36 Deletion Syndrome	Gastroesophageal reflux, Annular pancreas, Abnormality of the spleen, Abnormality of the liver, H...	ORPHA:1606
Achondrogenesis, Type Ia	Protruding tongue, Protuberant abdomen, Stillbirth	OMIM:200600
Proteus Syndrome	Long penis, Thymus hyperplasia, Splenomegaly, Enlarged polycystic ovaries, Renal cyst, Testicular...	ORPHA:744
Noonan Syndrome 8	Hypertrophic cardiomyopathy, Ventricular septal defect, Left ventricular hypertrophy, Atrial sept...	OMIM:615355
Lowe Oculocerebrorenal Syndrome	Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Low-molecular-weight proteinuria, Stage...	OMIM:309000
Emanuel Syndrome	Aortic valve stenosis, Unilateral renal agenesis, Renal hypoplasia, Recurrent urinary tract infec...	OMIM:609029
8Q24.3 Microdeletion Syndrome	Unilateral renal agenesis, Bilateral renal hypoplasia, Abnormal heart morphology, Atrioventricula...	ORPHA:508488
Neu-Laxova Syndrome 2	High palate, Cleft palate, Protuberant abdomen	OMIM:616038
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hepatic sinusoidal dilatation, Splenic cyst, Cryptorchidism, Cardiomegaly, Pancreatitis, Feeding ...	OMIM:620371
Joubert Syndrome 21	Renal cyst, Dysphagia, Splenomegaly, Hyperechogenic kidneys	OMIM:615636
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Abnormal heart morphology, Large placenta, Ventricular septal defect, Umbilical hernia	ORPHA:254534
Mucolipidosis Type Ii	Hepatosplenomegaly, Splenomegaly, Gastrostomy tube feeding in infancy, Left ventricular hypertrop...	ORPHA:576
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Proximal tubulopathy, Hyperechogenic kidneys, Ventricular septal defec...	OMIM:614576
Stankiewicz-Isidor Syndrome	Truncus arteriosus, Ventricular septal defect, Micropenis, Ureteral duplication, Hypospadias	OMIM:617516
Tuberous Sclerosis 2	Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Renal angiomyolipoma, Renal cyst, Renal cell...	OMIM:613254
Hamamy Syndrome	Complete atrioventricular canal defect, Atrial septal defect	OMIM:611174
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Biventricular hypertrophy, Patent foramen ovale, Nephrolithiasis, Ventricular septal defect, Left...	OMIM:615474
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Anterior encephalocele, Ventricular septal defect	OMIM:601357
Listeriosis	Acute kidney injury, Diarrhea, Vomiting, Pyelonephritis, Cholecystitis, Nausea, Peritonitis, Abdo...	ORPHA:533
Leptospirosis	Acute kidney injury, Diarrhea, Hepatitis, Nausea and vomiting, Elevated serum transaminases durin...	ORPHA:509
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Renal hypoplasia, Atrial septal defect, Ventricular septal defect	ORPHA:75389
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Cryptorchidism	ORPHA:3301
Schinzel-Giedion Syndrome	Annular pancreas, Anteriorly placed anus, Abnormality of the ureter, Streak ovary, Nephroblastoma...	ORPHA:798
Floating-Harbor Syndrome	Nephrocalcinosis, Glandular hypospadias, Mesocardia, Hydronephrosis, Persistent left superior ven...	OMIM:136140
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Recurrent urinary tract infections, Horseshoe kidney, Vesicoureteral reflux, Ventricular septal d...	OMIM:619103
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
Simpson-Golabi-Behmel Syndrome	Multicystic kidney dysplasia, Hydroureter, Polysplenia, Supernumerary nipple, Cryptorchidism, Pan...	ORPHA:373
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abnormal urinary color, Hematuria, Renal angiomyolipoma, Multiple re...	ORPHA:538
Neurofibroma	Intestinal bleeding, Enlargement of parotid gland, Abnormal biliary tract morphology	ORPHA:252183
Hand-Foot-Genital Syndrome	Abnormality of the urethra, Recurrent urinary tract infections, Vesicoureteral reflux, Ureteropel...	ORPHA:2438
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect	OMIM:214300
Smith-Lemli-Opitz Syndrome	Abnormal localization of kidney, Multicystic kidney dysplasia, Gastroesophageal reflux, Abnormali...	ORPHA:818
Timothy Syndrome	Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect	OMIM:601005
Glutaryl-Coa Dehydrogenase Deficiency	Chronic kidney disease, Glutaric aciduria, Dysphagia, Feeding difficulties	ORPHA:25
Alagille Syndrome	Nephrotic syndrome, Abnormality of the ureter, Renal hypoplasia/aplasia, Ventricular septal defec...	ORPHA:52
Diamond-Blackfan Anemia	Horseshoe kidney, Lethargy, Hypospadias, Renal agenesis	ORPHA:124
Congenital Gerbode Defect	Bacterial endocarditis, Ventricular septal defect, Constrictive pericarditis, Perimembranous vent...	ORPHA:99095
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria	OMIM:268315
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Perimembranous ventricular septal defect, Secundum atrial septal defect, Atrial septal defect, Ve...	OMIM:600987
Mowat-Wilson Syndrome	Abnormal enteric ganglion morphology, Vomiting, Supernumerary nipple, Cryptorchidism, Submucous c...	OMIM:235730
Spondyloenchondrodysplasia	Chronic kidney disease, Hepatitis, Decreased response to growth hormone stimulation test, Hematur...	ORPHA:1855
Brachydactyly, Type B1	Micropenis, Ventricular septal defect	OMIM:113000
Peters-Plus Syndrome	Renal hypoplasia, Cryptorchidism, Biliary tract abnormality, Hydronephrosis, Feeding difficulties...	OMIM:261540
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Edema	OMIM:612097
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Malabsorption, Renal insufficiency, Anorexia, Abdominal pain	ORPHA:79430
Jacobsen Syndrome	Multicystic kidney dysplasia, Annular pancreas, Intestinal malrotation, Cryptorchidism, Hydroneph...	ORPHA:2308
Noonan Syndrome 4	Hypertrophic cardiomyopathy, Ventricular septal defect, Hydronephrosis, Atrial septal defect, Ure...	OMIM:610733
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hematuria, Overriding aorta, Ventricular septal defect	OMIM:617021
Galloway-Mowat Syndrome 3	Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomer...	OMIM:617729
Primary Sjögren Syndrome	Depression, Biliary cirrhosis, Parotitis, Chronic active hepatitis, Renal insufficiency, Glomerul...	ORPHA:289390
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia, Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal ...	OMIM:614748
Fanconi Anemia, Complementation Group N	Unilateral renal agenesis, Horseshoe kidney, Nephroblastoma, Ventricular septal defect, Ectopic k...	OMIM:610832
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Bardet-Biedl Syndrome 1	Hepatic fibrosis, Abnormality of the ovary, Decreased testicular size, Biliary tract abnormality,...	OMIM:209900
Holt-Oram Syndrome	Hypoplastic left heart, Atrioventricular canal defect, Ventricular septal defect, Atrial septal d...	ORPHA:392
Cerebrocostomandibular Syndrome	Anal stenosis, Gastroesophageal reflux, Anteriorly placed anus, Horseshoe kidney, Cleft soft pala...	OMIM:117650
Atelosteogenesis Type Ii	Cleft palate, Protuberant abdomen, Bilateral cleft palate	ORPHA:56304
Diamond-Blackfan Anemia 7	Secundum atrial septal defect, Tetralogy of Fallot, Horseshoe kidney, Vesicoureteral reflux, Vent...	OMIM:612562
Autosomal Recessive Robinow Syndrome	Multicystic kidney dysplasia, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Abnormal ...	ORPHA:1507
Au-Kline Syndrome	Chronic kidney disease, Gastroesophageal reflux, Dilatation of the renal pelvis, Supernumerary ni...	OMIM:616580
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal tricuspid valve morphology, Ventricular septal defect	ORPHA:3405
Long-Olsen-Distelmaier Syndrome	Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect	OMIM:620609
Fanconi Anemia	Abnormality of the urinary system, Hydroureter, Umbilical hernia, Hypertrophic cardiomyopathy, Te...	ORPHA:84
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s...	ORPHA:79500
Agel Amyloidosis	Proteinuria, Stage 5 chronic kidney disease, Depression, Abnormal spleen morphology	ORPHA:85448
Degcags Syndrome	Chronic kidney disease, Renal hypoplasia, Gastroesophageal reflux, Bilateral renal dysplasia, Bil...	OMIM:619488
Tyshchenko Syndrome	Atrial septal defect, Pulmonic stenosis, Ventricular septal defect	OMIM:615102
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Umbilical hernia, Horseshoe kidney, Vesicoureteral reflux, Ventricular septal defect, Hydronephro...	OMIM:235510
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Atrial septal defect, Umbilical hernia	OMIM:619769
Behçet Disease	Gastrointestinal hemorrhage, Malabsorption, Renal insufficiency, Splenomegaly, Nausea and vomitin...	ORPHA:117
Pyomyositis	Testicular teratoma, Renal insufficiency	ORPHA:764
Duane-Radial Ray Syndrome	Renal hypoplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Vesicoureteral r...	OMIM:607323
Scorpion Envenomation	Acute kidney injury, Diarrhea, Ketonuria, Glycosuria, Vomiting, Elevated circulating aspartate am...	ORPHA:466677
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated circulating hepatic transaminase concentration, Parotitis, Hypertriglyceridemia, Splenom...	OMIM:256040
Arboleda-Tham Syndrome	Gastroesophageal reflux, Bilateral cryptorchidism, Recurrent urinary tract infections, Hydronephr...	OMIM:616268
Robinow Syndrome	Webbed penis, Multicystic kidney dysplasia, Abnormal heart morphology, Ventricular septal defect,...	ORPHA:97360
Donnai-Barrow Syndrome	Proteinuria, Ventricular septal defect, Non-acidotic proximal tubulopathy, Umbilical hernia	OMIM:222448
Cranioectodermal Dysplasia 3	Cirrhosis, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:614099
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Nephrolithiasis, Ventricular septal defect	ORPHA:369929
Limb Body Wall Complex	Abnormal heart morphology, Ventricular septal defect, Atrial septal defect, Abnormality of the ki...	ORPHA:2369
Diamond-Blackfan Anemia 5	Hypospadias, Ventricular septal defect	OMIM:612528
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Ventricular septal defect	ORPHA:1455
Coccidioidomycosis	Abnormality of the spleen, Abnormality of the liver, Renal insufficiency, Peritonitis, Pancreatit...	ORPHA:228123
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Overriding aorta, Atrial septal defect, Ventricular septal defect	OMIM:601927
Methimazole Embryofetopathy	Hypospadias, Ventricular septal defect	ORPHA:1923
Pierson Syndrome	Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis,...	OMIM:609049
Autoimmune Lymphoproliferative Syndrome	Hepatitis, Hypersplenism, Renal insufficiency, Splenomegaly, Glomerulonephritis, Hepatomegaly, Co...	ORPHA:3261
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Hydronephrosis, Subvalvular aortic stenosis, Atrial septal defect, Pel...	OMIM:613001
Dyggve-Melchior-Clausen Disease	Protuberant abdomen	ORPHA:239
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Abnormal aortic morphology, Nephroblastoma, Coarctation of aorta, S...	ORPHA:1052
Opitz Gbbb Syndrome	Umbilical hernia, Rectourethral fistula, Vesicoureteral reflux, Ventricular septal defect, Microp...	OMIM:300000
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormal heart morphology, Atrioventricular canal defect, Branchial anomaly, Vesicoureteral reflu...	ORPHA:453499
Williams-Beuren Syndrome	Renal hypoplasia, Enuresis, Nephrocalcinosis, Gastroesophageal reflux, Recurrent urinary tract in...	OMIM:194050
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Death in infancy	ORPHA:1393
Scalp-Ear-Nipple Syndrome	Unilateral renal agenesis, Renal hypoplasia, Breast aplasia, Pyelonephritis, Renal insufficiency	OMIM:181270
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hepatosplenomegaly, Cryptorchidism, Gastrostomy tube feeding in infancy, Hepatoblastoma, Hypoplas...	ORPHA:96334
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Myofiber disarray, Patent foramen ovale, Ventricular septal defect, Bicus...	OMIM:620519
X-Linked Lissencephaly With Abnormal Genitalia	Hypoplasia of penis, Ventricular septal defect	ORPHA:452
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Ventricular hypertrophy, Unilateral renal agenesis, Renal hypoplasia, Umbilical hernia, Vesicoure...	OMIM:620654
Lmna-Related Cardiocutaneous Progeria Syndrome	Abnormal intrahepatic bile duct morphology, Papillary renal cell carcinoma	ORPHA:363618
Familial Adenomatous Polyposis	Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Stomach cancer, Duodenal adenocarcinoma, Du...	ORPHA:733
Relapsing Polychondritis	Hepatitis, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy	ORPHA:728
Hydranencephaly	Atrophic pituitary gland, Lethargy	ORPHA:2177
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Hajdu-Cheney Syndrome	Hepatomegaly, Multiple renal cysts, Hypospadias, Splenomegaly	ORPHA:955
Cockayne Syndrome B	Renal insufficiency, Cryptorchidism, Splenomegaly, Proteinuria, Hepatomegaly, Micropenis	OMIM:133540
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Unilateral renal agenesis, Coronary artery fistula, Ventricular septal defect, Neonatal death, At...	OMIM:620024
Cutis Marmorata Telangiectatica Congenita	Multicystic kidney dysplasia, Arteriovenous malformation, Arterial stenosis, Displacement of the ...	ORPHA:1556
Cockayne Syndrome A	Renal insufficiency, Cryptorchidism, Splenomegaly, Proteinuria, Hepatomegaly, Micropenis	OMIM:216400
Weill-Marchesani Syndrome 2	Narrow palate, High palate, Protuberant abdomen	OMIM:608328
Townes-Brocks Syndrome	Hypospadias, Renal hypoplasia, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Renal in...	ORPHA:857
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect	OMIM:126320
Kapur-Toriello Syndrome	Tetralogy of Fallot, Hypoplasia of penis, Ventricular septal defect	ORPHA:2328
Osteopathia Striata With Cranial Sclerosis	Bifid uvula, Multicystic kidney dysplasia, Gastroesophageal reflux, Anal stenosis, Intestinal mal...	OMIM:300373
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Renal agenesis, Umbilical hernia, Ventricular septal defect, Hydronephrosis, Perimembranous ventr...	OMIM:301040
Acrocardiofacial Syndrome	Tetralogy of Fallot, Mitral stenosis, Truncus arteriosus, Ventricular septal defect, Atrial septa...	ORPHA:2008
Brain-Lung-Thyroid Syndrome	Megacystis, Vesicoureteral reflux, Patent foramen ovale, Ventricular septal defect, Atrial septal...	ORPHA:209905
African Trypanosomiasis	Diarrhea, Vomiting, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Hepatomegaly, Nausea, ...	ORPHA:3385
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Renal cyst, Gastroesophageal reflux, Hypospadias, Cryptorchidism	ORPHA:495875
Arteriosclerosis, Severe Juvenile	Chronic kidney disease	OMIM:208060
Blomstrand Lethal Chondrodysplasia	Protruding tongue, Protuberant abdomen	ORPHA:50945
Pmm2-Cdg	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Vomiting, Increased ci...	ORPHA:79318
Kapur-Toriello Syndrome	Micropenis, Abnormality of the urinary system, Atrial septal defect, Ventricular septal defect	OMIM:244300
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Micropenis, Atrial septal defect, Ventricular septal defect	ORPHA:2519
Aase-Smith Syndrome I	Ventricular septal defect	OMIM:147800
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Renal hypoplasia, Renal agenesis, Tetralogy of Fallot, Atrioventricular canal defect, Horseshoe k...	ORPHA:508498
Chops Syndrome	Horseshoe kidney, Vesicoureteral reflux, Patent foramen ovale, Ventricular septal defect, Anomalo...	OMIM:616368
Seckel Syndrome 9	Recurrent urinary tract infections, Atrial septal defect, Ventricular septal defect	OMIM:616777
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Hypospadias, Ventricular septal defect	ORPHA:77298
Hydrolethalus Syndrome 1	Hydronephrosis, Hypospadias, Complete atrioventricular canal defect, Ventricular septal defect	OMIM:236680
C Syndrome	Multicystic kidney dysplasia, Horseshoe kidney, Cryptorchidism, Renal hypoplasia/aplasia, Constip...	ORPHA:1308
Distal Deletion 19P	Tricuspid valve prolapse, Pulmonary valve atresia, Ventricular septal defect, Umbilical hernia	ORPHA:96129
Pyknoachondrogenesis	Abdominal distention	ORPHA:3003
Spondylocarpotarsal Synostosis Syndrome	Renal cyst	OMIM:272460
Townes-Brocks Syndrome 1	Renal hypoplasia, Multicystic kidney dysplasia, Gastroesophageal reflux, Renal insufficiency, Ves...	OMIM:107480
Sotos Syndrome	Hypospadias, Gastroesophageal reflux, Renal agenesis, Feeding difficulties, Renal insufficiency, ...	ORPHA:821
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Hypospadias, Renal agenesis, Ventricular septal defect	OMIM:611812
Noonan Syndrome 10	Hypertrophic cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Ventricular septal defect, L...	OMIM:616564
Pineoblastoma	Pinealoma, Lethargy	ORPHA:251909
Opitz Gbbb Syndrome	Abnormality of the urinary system, Umbilical hernia, Abnormal heart morphology, Vesicoureteral re...	ORPHA:2745
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Multicystic kidney dysplasia, Decreased testicular size, Elevated circulating creatine kinase con...	OMIM:615287
Cornelia De Lange Syndrome	Multicystic kidney dysplasia, Gastroesophageal reflux, Vesicoureteral reflux, Renal insufficiency...	ORPHA:199
Laubry-Pezzi Syndrome	Patent foramen ovale, Aortic valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Le...	ORPHA:99094
Mosaic Trisomy 16	Abnormal heart morphology, Horseshoe kidney, Large placenta, Ventricular septal defect, Atrial se...	ORPHA:1708
Teebi-Shaltout Syndrome	Aortic valve stenosis, Ureteral stenosis, Horseshoe kidney, Ventricular septal defect, Hydronephr...	OMIM:272950
Diamond-Blackfan Anemia 10	Ectopic kidney, Renal duplication, Ventricular septal defect	OMIM:613309
Peters Plus Syndrome	Hypoplastic left heart, Multicystic kidney dysplasia, Renal duplication, Renal hypoplasia/aplasia...	ORPHA:709
Double Outlet Left Ventricle	Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atresia, Doubl...	ORPHA:3427
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Protuberant abdomen	OMIM:618019
Tetraamelia Syndrome 2	Micropenis, Ventricular septal defect	OMIM:618021
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ...	OMIM:620066
Fanconi Anemia, Complementation Group C	Renal agenesis, Horseshoe kidney, Ventricular septal defect, Duplicated collecting system, Ectopi...	OMIM:227645
Costello Syndrome	Hypertrophic cardiomyopathy, Renal insufficiency, Mitral valve prolapse, Ventricular septal defec...	OMIM:218040
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect	OMIM:610338
Genitopatellar Syndrome	Multicystic kidney dysplasia, Anal stenosis, Malrotation of small bowel, Anteriorly placed anus, ...	OMIM:606170
Noonan Syndrome 3	Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal defect, Patent foramen ova...	OMIM:609942
Noonan Syndrome 2	Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Mitral stenosis, Mitr...	OMIM:605275
Histiocytosis-Lymphadenopathy Plus Syndrome	Azoospermia, Mitral valve prolapse, Ventricular septal defect, Cardiomegaly, Atrial septal defect...	OMIM:602782
Branchiooculofacial Syndrome	Gastroesophageal reflux, Renal agenesis, Supernumerary nipple, Cryptorchidism, Renal cyst, Duplic...	OMIM:113620
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal agenesis, Cryptorchidism, Death in...	OMIM:308205
Alström Syndrome	Chronic kidney disease, Testicular fibrosis, Hepatosplenomegaly, Hepatic steatosis, Polycystic ov...	ORPHA:64
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Ventricular septal defect, Overriding aorta, Chordee, Atrial septal ...	OMIM:309801
Mowat-Wilson Syndrome	Multicystic kidney dysplasia, Cryptorchidism, Chordee, Abnormality of the kidney, Urinary inconti...	ORPHA:2152
Adams-Oliver Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Encephalocele, Ventricular se...	OMIM:100300
Mosaic Trisomy 20	Horseshoe kidney, Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septa...	ORPHA:1724
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Renal agenesis, Tetralogy of Fallot, Right aortic arch, Vesicourete...	OMIM:164210
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s...	ORPHA:95430
Blau Syndrome	Nephropathy, Abnormality of the liver, Stage 5 chronic kidney disease, Clear cell renal cell carc...	ORPHA:90340
Pallister-Killian Syndrome	Bifid uvula, Anal stenosis, Anteriorly placed anus, Supernumerary nipple, Nasogastric tube feedin...	OMIM:601803
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Multicystic kidney dysplasia, Cryptorchidism, Chordee, Urinary incontinence, Dysphagia, Hypospadi...	ORPHA:261537
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Aortic valve stenosis, Abnormality of the urinary system, Recurrent urinary tract infections, Abn...	ORPHA:353281
Okamoto Syndrome	Aortic valve stenosis, Abnormal heart morphology, Abnormal left ventricle morphology, Ureteropelv...	ORPHA:2729
Cardiospondylocarpofacial Syndrome	Muscular ventricular septal defect, Horseshoe kidney, Vesicoureteral reflux, Patent foramen ovale...	OMIM:157800
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Multicystic kidney dysplasia, Cryptorchidism, Chordee, Urinary incontinence, Dysphagia, Hypospadi...	ORPHA:261552
Specc1L-Related Hypertelorism Syndrome	Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect, Ectopic k...	ORPHA:1519
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal heart morphology, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular septal...	ORPHA:363700
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Enuresis, Renal agenesis, Grade III vesicoureteral reflux, Ureteropelvic junction obstruction, Ve...	OMIM:619522
Chromosome 13Q14 Deletion Syndrome	Micropenis, Ventricular septal defect, Patent foramen ovale, Umbilical hernia	OMIM:613884
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Abnormal heart morphology, Vesicoureteral reflux, Patent foramen ovale, Ventricular septal defect...	ORPHA:438213
Hereditary Sensory And Autonomic Neuropathy Type 4	Chronic kidney disease, Dysphagia, Feeding difficulties, Aplasia of the sweat glands	ORPHA:642
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect	OMIM:618748
Paternal Uniparental Disomy Of Chromosome 6	Cardiomegaly, Ventricular septal defect, Umbilical hernia	ORPHA:96191
Alzahrani-Kuwahara Syndrome	Coronary sinus enlargement, Patent foramen ovale, Ventricular septal defect, Atrial septal defect...	OMIM:619268
Congenital Tracheal Stenosis	Hypoplastic left heart, Abnormality of the ureter, Abnormality of the kidney, Ventricular septal ...	ORPHA:141127
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Unilateral renal hypoplasia, Ventricular septal defect, Atrial septal de...	OMIM:615948

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 Bicc1

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Bicc1.

No publications found that use IMPC mice or data for Bicc1.

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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
Bicc1^{tm43183(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Bicc1^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Bicc1^{tm43183(L1L2_gt1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Bicc1 MGI:1933388

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Gross Morphology Embryo E9.5

Gross Morphology Embryo E14.5-E15.5

X-ray

MicroCT E9.5

Human diseases caused by Bicc1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data