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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

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal kidney morphology	Bicc1^em1(IMPC)Mbp	HET	Early adult	0.00
small kidney	Bicc1^em1(IMPC)Mbp	HET	Early adult	0.00
decreased locomotor activity	Bicc1^em1(IMPC)Mbp	HET	Early adult	1.36×10^-08
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
preweaning lethality, complete penetrance	Bicc1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal heart morphology	Bicc1^em1(IMPC)Mbp	HOM	E9.5	0.00
abnormal heart looping	Bicc1^em1(IMPC)Mbp	HOM	E9.5	0.00
edema	Bicc1^em1(IMPC)Mbp	HOM	E15.5	0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

80 Images

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Gross Morphology Embryo E9.5

Images

27 Images

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X-ray

XRay Images Whole Body Lateral Orientation

40 Images

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Gross Morphology Embryo E14.5-E15.5

Images

10 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 (1760 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		Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Autosomal Dominant Polycystic Kidney Disease		Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,...	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	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
RCAD (renal cysts and diabetes)	Abnormality of the liver, Multiple renal cysts	DECIPHER:47
Nephronophthisis 14	Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis...	OMIM:615382
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea...	OMIM:614377
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abdominal pain, Feeding diff...	ORPHA:2924
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ...	ORPHA:3032
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp...	OMIM:619902
Mirror Movements 3	Situs inversus totalis	OMIM:616059
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s...	ORPHA:1209
Laterality Defects, Autosomal Dominant	Situs inversus totalis, Heterotaxy	OMIM:601086
Genitopalatocardiac Syndrome	Ventricular septal defect, Hypospadias, Renal cyst, Right aortic arch, Transposition of the great...	OMIM:231060
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Abdominal distention, Polycystic liver disease, Renal cyst	OMIM:174050
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
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	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Dextrocardia	OMIM:618948
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Congenital Pancreatic Cyst	Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting, Pancreatitis	ORPHA:313906
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Portal hypertension, Malformation of th...	OMIM:208540
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Campomelia, Cumming Type	Pancreatic cysts, Polycystic liver disease, Polysplenia, Polycystic kidney dysplasia	OMIM:211890
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Bardet-Biedl Syndrome 8	Situs inversus totalis, Hypospadias, Renal dysplasia	OMIM:615985
Heterotaxy, Visceral, 7, Autosomal	Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl...	OMIM:616749
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c...	OMIM:614817
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f...	OMIM:600803
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Abdom...	OMIM:605376
Ciliary Dyskinesia, Primary, 40	Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ...	OMIM:618300
Heterotaxy, Visceral, 12, Autosomal	Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa...	OMIM:619702
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Abdominal pain, Chronic diarrhea, Malnutrit...	ORPHA:85445
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Elevated hepatic transaminase, Chronic kidney disease, Abnormal tubulointerstitial morphology, Ch...	OMIM:602114
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Nausea and vomiting, Anorexia, Abdominal pain, Jaundice, Chronic d...	ORPHA:65682
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Hyperbiliverdinemia	Cholelithiasis, Decreased liver function, Cholestasis, Green urine	OMIM:614156
Meckel Syndrome, Type 3	Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p...	OMIM:607361
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept...	OMIM:607941
Cholangiocarcinoma, Susceptibility To	Cholangiocarcinoma	OMIM:615619
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Vitamin B12-Responsive Methylmalonic Acidemia	Nausea and vomiting, Hepatomegaly, Renal insufficiency, Hyperammonemia, Lethargy	ORPHA:28
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi...	OMIM:613496
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St...	OMIM:616307
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Situs inversus totalis, Abdominal situs inversus, Dextrocardia	OMIM:619607
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic...	OMIM:613159
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Hepatomegaly, Chronic diarrhea, Enlarged kidney	OMIM:615285
Trehalase Deficiency	Malabsorption, Abdominal pain, Abdominal distention, Diarrhea, Vomiting	ORPHA:103909
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,...	ORPHA:730
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Abdominal pain, Conjugated hype...	ORPHA:567983
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormality of the kidney, Abdominal di...	ORPHA:369
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coronary artery from t...	OMIM:618845
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Situs inversus totalis	OMIM:620032
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Mirizzi Syndrome	Elevated hepatic transaminase, Dark urine, Abdominal colic, Nausea, Abdominal pain, Anorexia, Pan...	ORPHA:521219
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology, Dysuria, Abdominal pain	ORPHA:293807
Ciliary Dyskinesia, Primary, 37	Situs inversus totalis, Right aortic arch, Dextrocardia	OMIM:617577
Spermatogenic Failure 12	Azoospermia, Infertility	OMIM:615413
Ciliary Dyskinesia, Primary, 3	Situs inversus totalis	OMIM:608644
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Renal insufficiency, Dextrocardia, Situs inversus totalis, St...	OMIM:613095
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Pancreatic cysts, S...	OMIM:267010
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney...	OMIM:602088
Ciliary Dyskinesia, Primary, 36, X-Linked	Situs inversus totalis	OMIM:300991
Ciliary Dyskinesia, Primary, 17	Situs inversus totalis, Dextrocardia	OMIM:614679
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Pancreatic adenocarcinoma, Nephrolithiasis, Papillary renal cell carcinoma, ...	OMIM:145001
Congenital Sucrase-Isomaltase Deficiency	Abdominal distention, Abdominal colic, Vomiting, Diarrhea	ORPHA:35122
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Ciliary Dyskinesia, Primary, 7	Situs inversus totalis, Dextrocardia	OMIM:611884
Lipedema	Edema	OMIM:614103
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
Peroxisome Biogenesis Disorder 6A (Zellweger)	Feeding difficulties in infancy, Hepatomegaly, Decreased liver function, Renal cyst	OMIM:614870
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexi...	OMIM:619386
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia, Decreased liver function	OMIM:600666
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Abdominal pain, Abdominal distenti...	ORPHA:90003
Branchiootorenal Syndrome 2	Renal insufficiency, Renal dysplasia	OMIM:610896
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Cholelithiasis	OMIM:300752
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Lethal Infantile Mitochondrial Myopathy	Lethargy, Fatal liver failure in infancy, Renal insufficiency	ORPHA:254857
Campomelia, Cumming Type	Death in infancy, Multicystic kidney dysplasia, Hepatomegaly, Pancreatic cysts, Abnormality of th...	ORPHA:1318
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Ciliary Dyskinesia, Primary, 10	Situs inversus totalis	OMIM:612518
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Total Anomalous Pulmonary Venous Return 1	Total anomalous pulmonary venous return, Dextrocardia	OMIM:106700
Primary Effusion Lymphoma	Abnormal peritoneum morphology, Abdominal distention, Abdominal pain	ORPHA:48686
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst	OMIM:615987
Meacham Syndrome	Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Situs inversus total...	ORPHA:3097
Chronic Diarrhea Due To Glucoamylase Deficiency	Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Abdominal ...	ORPHA:103907
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Aminoaciduria, Stroke, Atrial ...	OMIM:249270
Ciliary Dyskinesia, Primary, 38	Situs inversus totalis, Dextrocardia	OMIM:618063
Primary Peritoneal Carcinoma	Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation	ORPHA:168829
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Renal-Hepatic-Pancreatic Dysplasia 2	Truncus arteriosus, Situs inversus totalis, Enlarged kidney, Aortic valve stenosis, Pulmonic sten...	OMIM:615415
Anemia, Congenital Dyserythropoietic, Type Ii	Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Mitral valve prolapse, Polycystic kidney dysplasia, Cerebral ...	OMIM:173900
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Urethral atresia, Isomerism, Transposition of the great arteries, Atrioventricular ...	OMIM:314390
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine...	OMIM:255120
Meckel Syndrome, Type 5	Bile duct proliferation, Renal cyst	OMIM:611561
Ciliary Dyskinesia, Primary, 23	Situs inversus totalis	OMIM:615451
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot...	ORPHA:54370
Caroli Disease	Liver abscess, Cholangitis, Anorexia, Hepatic fibrosis, Vomiting, Nausea, Hepatomegaly, Portal hy...	ORPHA:53035
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis	OMIM:605479
Dubin-Johnson Syndrome	Jaundice, Biliary tract abnormality	OMIM:237500
Ciliary Dyskinesia, Primary, 16	Situs inversus totalis	OMIM:614017
Cholangiocarcinoma	Anorexia, Abdominal pain, Biliary tract neoplasm, Jaundice, Acholic stools	ORPHA:70567
Meckel Syndrome, Type 6	Absent gallbladder, Renal cyst, Horseshoe kidney, Cystic liver disease, Aplasia of the bladder, B...	OMIM:612284
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea	OMIM:616868
Ciliary Dyskinesia, Primary, 13	Situs inversus totalis	OMIM:613193
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Abdominal colic, Liver abscess, Cholangitis, Intrahepatic cholesta...	ORPHA:69663
Ciliary Dyskinesia, Primary, 24	Situs inversus totalis	OMIM:615481
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Nausea and vomiting, Hepatomegaly, Renal insufficiency, Anorexia, Abdominal pain, Splenomegaly, H...	ORPHA:79312
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri...	ORPHA:1330
Ciliary Dyskinesia, Primary, 35	Situs inversus totalis, Abdominal situs ambiguus	OMIM:617092
Hyperlysinuria With Hyperammonemia	Dibasicaminoaciduria, Hyperammonemia, Hyperlysinuria, Lethargy, Hyperlysinemia	OMIM:238750
Developmental And Epileptic Encephalopathy 102	Atrial septal defect, Situs inversus totalis	OMIM:619881
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Nausea and vomiting, Hepatomegaly, Renal insufficiency, Hyperammonemia, Renal tubular dysfunction...	ORPHA:289916
Hypercalcemia, Infantile, 1	Hypercalcemia, Polyuria, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Vomiting, Lethargy, M...	OMIM:143880
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Feeding difficulties, Ethylmalonic aciduria, In...	ORPHA:26792
Cirrhosis, Familial	Abdominal distention, Fulminant hepatitis, Jaundice, Micronodular cirrhosis, Biliary cirrhosis, I...	OMIM:215600
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr...	ORPHA:1909
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Decreased liver function, Cirrhosis	ORPHA:79278
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Hereditary Fructose Intolerance	Hepatomegaly, Renal insufficiency, Abdominal pain, Abdominal distention, Diarrhea, Jaundice, Hype...	ORPHA:469
Mitochondrial Complex I Deficiency, Nuclear Type 3	Hepatomegaly, Lethargy, Episodic vomiting, Feeding difficulties	OMIM:618224
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen	OMIM:620085
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Death in infancy, Renal insufficiency, Polycystic liver disease, Proteinuria, Pancreatic fibrosis...	OMIM:208500
Ciliary Dyskinesia, Primary, 2	Situs inversus totalis, Dextrocardia	OMIM:606763
Intestinal Dysmotility Syndrome	Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d...	OMIM:620045
Caroli Syndrome	Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Hepatomegaly, Abnormality...	ORPHA:480520
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology, Abdominal pain	ORPHA:438274
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Diarrhea, ...	OMIM:211600
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part...	OMIM:619657
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Abdominal pain, Jaundice, Incre...	ORPHA:890
Pyruvate Dehydrogenase E3 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Increased urine alpha-ketoglutarate concentration, E...	ORPHA:2394
Dextrocardia	Dextrocardia, Situs inversus totalis, Abnormal renal morphology, Abnormality of the ureter, Abnor...	ORPHA:1666
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp...	ORPHA:860
Bardet-Biedl Syndrome 17	Dextrocardia, Polyuria, Situs inversus totalis, Stage 5 chronic kidney disease, Renal cyst, Micro...	OMIM:615994
Dihydropyrimidinase Deficiency	Elevated circulating dihydrouracil concentration, Elevated circulating uracil concentration, Feed...	OMIM:222748
Renal Tubular Dysgenesis	Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis	ORPHA:3033
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Feeding d...	OMIM:608836
Ciliary Dyskinesia, Primary, 18	Situs inversus totalis, Abdominal situs ambiguus	OMIM:614874
Marfanoid Habitus With Situs Inversus	Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmonic stenosis, Persisten...	OMIM:609008
Thyroid Hemiagenesis	Abdominal distention, Jaundice, Constipation	ORPHA:95719
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Vomiting, Hypocalcemia, Elevated hepatic iron c...	OMIM:619991
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical cysts, Proxi...	OMIM:231680
Adiposis Dolorosa	Abdominal distention, Constipation, Depression	OMIM:103200
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Right atrial isomerism, Ureteral stenosis, Ventricular septal defect, Dextr...	OMIM:270100
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic...	OMIM:615008
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Elevated circulating creatinine concentration, Vomiting, Increased blood urea nitro...	OMIM:617872
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Abd...	OMIM:256300
Ciliary Dyskinesia, Primary, 27	Situs inversus totalis	OMIM:615504
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Ciliary Dyskinesia, Primary, 28	Situs inversus totalis	OMIM:615505
Whim Syndrome 2	Tetralogy of Fallot	OMIM:619407
Tetralogy Of Fallot	Tetralogy of Fallot	OMIM:187500
Fetal Trimethadione Syndrome	Ventricular septal defect, Hypospadias, Transposition of the great arteries, Atrial septal defect...	ORPHA:1913
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Rhyns Syndrome	Hypopituitarism, Abnormality of the liver, Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect	OMIM:619608
Ciliary Dyskinesia, Primary, 25	Situs inversus totalis, Dextrocardia	OMIM:615482
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly...	ORPHA:30391
Ciliary Dyskinesia, Primary, 9	Situs inversus totalis	OMIM:612444
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Renal cyst, Cholest...	OMIM:610199
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Renal dysplasia	OMIM:615993
Pancreatic Colipase Deficiency	Cholelithiasis, Chronic diarrhea, Exocrine pancreatic insufficiency	ORPHA:309108
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Feeding difficulties, Renal tubu...	OMIM:614922
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Polycystic kidney dysplasia	OMIM:614859
Senior-Loken Syndrome 6	Stage 5 chronic kidney disease	OMIM:610189
Bardet-Biedl Syndrome 18	Renal insufficiency, Stage 5 chronic kidney disease	OMIM:615995
Acrocephalopolydactyly	Abnormal renal morphology, Protuberant abdomen, Hepatosplenomegaly	ORPHA:221054
Glucose-Galactose Malabsorption	Renal insufficiency, Hypercalcemia, Abdominal distention, Diarrhea, Malnutrition, Hyperactive bow...	ORPHA:35710
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Central Diabetes Insipidus	Hyponatremia, Nausea and vomiting, Anorexia, Diarrhea, Depression, Lethargy, Nocturia	ORPHA:178029
Liver Failure, Infantile, Transient	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, 3-hydroxydicarboxylic aciduri...	OMIM:613070
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Pheochrom...	OMIM:193300
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly, Jaundice,...	ORPHA:79301
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Ciliary Dyskinesia, Primary, 32	Situs inversus totalis	OMIM:616481
Meacham Syndrome	Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Partial...	OMIM:608978
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal ...	OMIM:232200
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos...	OMIM:308990
Primary Ciliary Dyskinesia	Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Anomalous pulmonary ...	ORPHA:244
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Abdominal pain, Elevated circulating crea...	OMIM:614723
Meckel Syndrome, Type 8	Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
Joubert Syndrome 6	Bile duct proliferation, Hepatic fibrosis, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:610688
Coach Syndrome 3	Renal insufficiency, Stage 5 chronic kidney disease, Portal fibrosis, Renal interstitial inflamma...	OMIM:619113
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Situs inversus totalis	OMIM:620197
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology	OMIM:609886
Short Stature-Wormian Bones-Dextrocardia Syndrome	Patent ductus arteriosus, Midshaft hypospadias, Dextrocardia, Renal hypoplasia/aplasia	ORPHA:2863
Testicular Anomalies With Or Without Congenital Heart Disease	Corpus cavernosum hypoplasia, Tetralogy of Fallot, Microphallus, Perineal hypospadias	OMIM:615542
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ...	ORPHA:90301
Meckel Syndrome, Type 2	Bile duct proliferation, Renal cyst	OMIM:603194
Volvulus Of Midgut	Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv...	OMIM:193250
Ciliary Dyskinesia, Primary, 12	Situs inversus totalis	OMIM:612650
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Ciliary Dyskinesia, Primary, 14	Situs inversus totalis, Heterotaxy	OMIM:613807
Alpha-Thalassemia	Hypersplenism, Splenomegaly, Jaundice, Cholelithiasis	ORPHA:846
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Hypoglossia With Situs Inversus	Situs inversus totalis	OMIM:612776
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Scimitar Syndrome	Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa...	ORPHA:185
Small Bowel Atresia	Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif...	ORPHA:1201
Thomas Syndrome	Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypoplasia/aplasia	ORPHA:3316
Alveolar Echinococcosis	Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesentery morphology,...	ORPHA:284
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612926
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Microvillus inclusions, Abdominal distention, Dependency on parenteral nutrition...	OMIM:619445
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia, Multinodular goiter	ORPHA:2091
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612924
Ciliary Dyskinesia, Primary, 22	Situs inversus totalis, Dextrocardia	OMIM:615444
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Anorexia, Distal renal tubular acidosis, Hepatosplenomegaly, Nephrocalcinosis, Hypok...	OMIM:611590
Vitamin B12-Unresponsive Methylmalonic Acidemia	Nausea and vomiting, Hepatomegaly, Renal insufficiency, Hyperammonemia, Lethargy, Pancreatitis	ORPHA:27
22Q11.2 Duplication Syndrome	Ventricular septal defect, Urethral stenosis, Hypoplastic left heart, Transposition of the great ...	ORPHA:1727
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure	OMIM:177000
Diabetic Embryopathy	Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal aortic morpho...	ORPHA:1926
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta...	OMIM:620049
Xanthinuria, Type Ii	Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin...	OMIM:603592
Preeclampsia	Elevated hepatic transaminase, Helicobacter pylori infection, Proteinuria, Abnormality of the kid...	ORPHA:275555
Camos Syndrome	Nephrotic syndrome, Renal insufficiency	ORPHA:83472
Dihydrolipoamide Dehydrogenase Deficiency	Increased serum pyruvate, Hepatomegaly, Elevated hepatic transaminase, Feeding difficulties, Decr...	OMIM:246900
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Hype...	OMIM:232220
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:2613
Ciliary Dyskinesia, Primary, 26	Situs inversus totalis	OMIM:615500
Megabladder, Congenital	Multiple glomerular cysts, Ventricular septal defect, Bicuspid aortic valve, Left ventricular non...	OMIM:618719
Dubin-Johnson Syndrome	Hepatomegaly, Abnormal urinary color, Abdominal pain, Jaundice, Biliary tract abnormality, Abnorm...	ORPHA:234
Bardet-Biedl Syndrome 14	Renal insufficiency	OMIM:615991
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatic steatosis, Necrotizing enterocolitis, Hepatomegaly, Dicarboxylic aciduria, Elevated circu...	OMIM:201475
Gallbladder Neuroendocrine Tumor	Anorexia, Biliary tract neoplasm, Abdominal distention, Extrahepatic cholestasis, Intermittent ja...	ORPHA:100086
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis	OMIM:613470
Renal Hypoplasia, Bilateral	Hyponatremia, Proteinuria, Cryptorchidism, Chronic kidney disease, Hyperkalemia, Renal hypoplasia...	ORPHA:97362
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Cholestasis-Lymphedema Syndrome	Nausea and vomiting, Hepatomegaly, Gastrointestinal hemorrhage, Portal hypertension, Abdominal pa...	ORPHA:1414
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Elevated circulating aspartate aminotransf...	ORPHA:2088
Wolman Disease	Nausea and vomiting, Hepatomegaly, Splenomegaly, Abdominal distention, Malnutrition, Hepatic failure	ORPHA:75233
Lambert Syndrome	Jaundice, Intrahepatic biliary atresia, Hypospadias	OMIM:245550
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary...	OMIM:615067
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Lethargy, Dicarboxylic aciduria, Poor suck	OMIM:615026
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chronic kidney disease, ...	OMIM:613845
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Situs inversus totalis	OMIM:615434
Axial Osteomalacia	Polycystic liver disease, Renal cyst	OMIM:109130
Crigler-Najjar Syndrome Type 1	Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice	ORPHA:79234
Severe Canavan Disease	Oral-pharyngeal dysphagia, Gastrostomy tube feeding in infancy, Feeding difficulties, Gastroesoph...	ORPHA:314911
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Enlarged kidney, Nephroblastoma, Protuberant abdomen	OMIM:618272
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Purple urine, Abdominal pain, Abnormal circulating porphyrin concentration, Abdomin...	ORPHA:100924
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Death in infancy, Hepatomegaly, Ectopic kidney, Cryptorchidism, Neonatal death, Cystic renal dysp...	OMIM:613730
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Tyrosinemia, Type I	Acute hepatic failure, Paralytic ileus, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemi...	OMIM:276700
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic...	ORPHA:42
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta...	OMIM:617056
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Elevated...	OMIM:212140
Glycine Encephalopathy 1	Lethargy, Hyperglycinuria, Hyperglycinemia	OMIM:605899
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Bowel incontinence, Enuresis, Constipati...	ORPHA:84085
Asherman Syndrome	Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S...	ORPHA:137686
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Meckel Syndrome, Type 4	Bile duct proliferation, Renal cyst	OMIM:611134
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Ketonuria, Feeding difficulties in infancy, Elevated urinary 3-methylcroton...	OMIM:210200
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Hepatomegaly, Acute hyperammonemia, Poor appetite, Reye syndrome-like episodes, Hyperglutaminemia...	ORPHA:927
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria	OMIM:607832
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Multiple renal cy...	ORPHA:464329
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Ovarian Fibroma	Mesenteric cyst, Ovarian fibroma, Abdominal pain, Abdominal distention, Peritonitis, Abnormality ...	ORPHA:314473
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Protuberant a...	OMIM:608022
Double Outlet Right Ventricle	Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Heterotaxy, Hypop...	ORPHA:3426
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Nausea and vomiting, Test...	ORPHA:83469
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Acute hepatitis, Protein avoidance, Hyperammonemia, Hyperornithinemia, Decreased li...	OMIM:238970
Thoraco-Abdominal Enteric Duplication	Abnormal tricuspid valve morphology, Dextrocardia	ORPHA:1759
Ciliary Dyskinesia, Primary, 19	Situs inversus totalis	OMIM:614935
Glucose/Galactose Malabsorption	Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Glycosuria	OMIM:606824
Citrullinemia, Classic	Hepatomegaly, Protein avoidance, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication...	OMIM:215700
Visceral Myopathy 1	Intestinal pseudo-obstruction, Gastroparesis, Aganglionic megacolon, Abdominal pain, Abdominal di...	OMIM:155310
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalon...	OMIM:251000
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Cholestasis, Renal cyst, Hematuria, Renal tub...	OMIM:610205
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g...	ORPHA:84090
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ...	OMIM:615237
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Neonat...	OMIM:613390
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation, C...	ORPHA:160148
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Hypospadias, Double outlet right ventricle, Hypoplastic left heart, Pu...	OMIM:220210
Nephrotic Syndrome, Type 2	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:600995
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ...	OMIM:617609
Early Myoclonic Encephalopathy	Lethargy, Poor suck, Dysphagia, Feeding difficulties	ORPHA:1935
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Abdominal colic, Proteinuria, Recurrent urinary tract infections, Dysuria, C...	ORPHA:976
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,...	OMIM:615573
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C...	OMIM:602390
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin...	ORPHA:79230
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Abdominal pain, Malabsorption, Abdominal distention, Gastrointesti...	OMIM:613662
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Megacystis, Spast...	OMIM:615112
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Ketonuria, Hypouricemia, Elevated circulating aspartate aminotra...	OMIM:227810
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom...	OMIM:162000
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho...	ORPHA:99050
Thoracoabdominal Syndrome	Renal agenesis, Hypospadias, Patent ductus arteriosus, Transposition of the great arteries, Ectop...	OMIM:313850
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Ppoma	Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo...	ORPHA:97278
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Small intestinal dysmotility, Poor appetite, Abdominal pain, Abdom...	ORPHA:298
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Splenomegaly, Jaundice, Cholelithiasis, Cholecystitis	OMIM:235700
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra...	OMIM:619910
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa...	OMIM:603471
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy, Anorexia	ORPHA:79283
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery atresia	ORPHA:1908
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr...	OMIM:619468
Nephronophthisis	Renal insufficiency	ORPHA:655
Dent Disease 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina...	OMIM:300555
Peritoneal Cystic Mesothelioma	Abdominal distention, Peritonitis, Constipation, Abdominal pain	ORPHA:168816
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616893
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Complement Factor H Deficiency	Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g...	OMIM:609814
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Abnormal urine sebacic acid concentration, Hyp...	OMIM:615751
N-Acetylglutamate Synthase Deficiency	Lethargy, Hyperglutamatemia, Vomiting, Hyperammonemia	OMIM:237310
Spondylocostal Dysostosis 4, Autosomal Recessive	Neurogenic bladder, Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Dextroca...	OMIM:613686
Ciliary Dyskinesia, Primary, 5	Situs inversus totalis	OMIM:608647
Nephronophthisis 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy	OMIM:611498
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Renal tubular acidosis, Transient hyperlipidemia, Le...	ORPHA:156
Nephrosialidosis	Pericardial effusion, Nephrotic syndrome, Renal insufficiency, Nephropathy	OMIM:256150
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Vomiting, Medium chain dicarboxylic...	OMIM:201450
Igg4-Related Retroperitoneal Fibrosis	Nausea and vomiting, Renal insufficiency, Dysuria, Anorexia, Abdominal pain, Elevated circulating...	ORPHA:49041
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Retinitis Pigmentosa 59	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cryptorchidism, Feeding difficu...	OMIM:613861
Homocystinuria Without Methylmalonic Aciduria	Lethargy, Vomiting	ORPHA:622
Citrullinemia Type Ii	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm...	ORPHA:562639
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou...	OMIM:179613
Ciliary Dyskinesia, Primary, 15	Situs inversus totalis	OMIM:613808
Sickle Cell Disease	Hepatomegaly, Renal insufficiency, Abdominal pain, Cardiomegaly, Splenomegaly, Jaundice, Splenic ...	OMIM:603903
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Elevated hepatic transaminase, 4-hydroxyphenylacetic aciduria, Conjugated hyper...	OMIM:617156
Dihydropyrimidine Dehydrogenase Deficiency	Lethargy, Uraciluria	OMIM:274270
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Maple Syrup Urine Disease	Elevated circulating branched chain amino acid concentration, Increased level of hippuric acid in...	OMIM:248600
Thrombotic Thrombocytopenic Purpura, Hereditary	Proteinuria, Hemolytic-uremic syndrome, Jaundice, Elevated circulating creatinine concentration, ...	OMIM:274150
Infantile Liver Failure Syndrome 2	Acute hepatic failure, Elevated hepatic transaminase, Jaundice, Hyperammonemia, Vomiting, Lethargy	OMIM:616483
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Hemoglobinuria, Cholelithiasis	OMIM:194380
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Vesicoureteral reflux, Bla...	OMIM:301068
Spherocytosis, Type 1	Splenomegaly, Jaundice, Cholelithiasis	OMIM:182900
Congenital Disorder Of Glycosylation, Type Il	Pericardial effusion, Abnormal cardiac septum morphology, Polycystic kidney dysplasia	OMIM:608776
Nephronophthisis 18	Stage 5 chronic kidney disease, Cholestasis, Thickened glomerular basement membrane, Tubulointers...	OMIM:615862
Hepatoportal Sclerosis	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera...	ORPHA:64743
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Recurrent urinary tract infections, Hypoperistalsis, Abdominal distention, Fetal pyelectasis, Meg...	OMIM:619365
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Diarrhea, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Vomiting, Cirrhosis, ...	OMIM:602579
Combined Oxidative Phosphorylation Deficiency 2	Feeding difficulties in infancy, Lethargy, Neonatal death, Elevated hepatic transaminase	OMIM:610498
Fructose Intolerance, Hereditary	Bicarbonaturia, Vomiting, Lethargy, Hepatic steatosis, Nausea, Hepatomegaly, Transient aminoacidu...	OMIM:229600
Thrombotic Thrombocytopenic Purpura	Renal insufficiency, Proteinuria, Abdominal pain, Diarrhea, Hematuria, Decreased serum creatinine...	ORPHA:54057
Methylmalonic Acidemia With Homocystinuria	Lethargy, Feeding difficulties	ORPHA:26
Complement Component 3 Deficiency, Autosomal Recessive	Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis	OMIM:613779
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:278000
Agnathia-Otocephaly Complex	Secundum atrial septal defect, Situs inversus totalis	OMIM:202650
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Argininosuccinic Aciduria	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Feeding difficulties...	OMIM:207900
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Vomiting, Gastroesophageal...	ORPHA:85450
Medullary Thyroid Carcinoma	Diarrhea, Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Pheochromocytoma, Dy...	ORPHA:1332
Athyreosis	Macroglossia, Abdominal distention, Constipation, Feeding difficulties	ORPHA:95713
Malignant Peritoneal Mesothelioma	Abdominal distention, Peritonitis, Ileus, Abdominal pain	ORPHA:168811
Developmental And Epileptic Encephalopathy 92	Lethargy, Feeding difficulties	OMIM:617829
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Small intestinal dysmotility, Aganglionic m...	ORPHA:95427
Poland Syndrome	Dextrocardia	OMIM:173800
Propionic Acidemia	Hepatomegaly, Increased level of hippuric acid in urine, Poor appetite, Feeding difficulties in i...	OMIM:606054
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Biliary hyperplasia, Cryptorchidism, Cholelithiasis, Micropenis, Pancreatic hypopla...	ORPHA:83617
Acute Intermittent Porphyria	Hyponatremia, Nausea and vomiting, Renal insufficiency, Dark urine, Urinary incontinence, Dysuria...	ORPHA:79276
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Dark urine, Jaundice, Cholesta...	ORPHA:79303
Beta-Thalassemia	Splenomegaly, Hepatomegaly, Cholelithiasis, Hepatitis	ORPHA:848
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis	OMIM:266200
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Situs inversus totalis, Hypoplasia of penis	ORPHA:990
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Abdominal distention, Diarrhea, Cryptorchidism, Elevated circulating creatinine con...	OMIM:608104
Martinez-Frias Syndrome	Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Annular pancreas, ...	OMIM:601346
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Abdominal pain, Mini...	ORPHA:567548
Distal Triplication 15Q	Abnormality of the kidney, Patent ductus arteriosus, Hypoplastic aortic arch, Dilatation of the r...	ORPHA:314588
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Elevated circulating aspartate aminotransferase concentration, Abdominal pain, Elevated circulati...	OMIM:311250
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ano...	ORPHA:100085
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenom...	ORPHA:231222
Senior-Loken Syndrome	Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophth...	ORPHA:3156
Femoral-Facial Syndrome	Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of kidney, Polycystic...	ORPHA:1988
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Abdominal...	OMIM:300048
Polysyndactyly With Cardiac Malformation	Stillbirth, Hepatic cysts, Renal cyst	OMIM:263630
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio...	OMIM:616818
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Hyperprolinemia, Hyperalaninemia, Leth...	OMIM:619064
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Ventricula...	ORPHA:2461
Developmental And Epileptic Encephalopathy 40	Lethargy, Feeding difficulties	OMIM:617065
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Ketonuria, Hyperlipidemia, Glycosuria, Lethargy	ORPHA:2089
Bardet-Biedl Syndrome 4	Cryptorchidism, Abnormality of the kidney, Renal cyst	OMIM:615982
Malaria	Nausea and vomiting, Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive pro...	ORPHA:673
Babesiosis	Nausea and vomiting, Hepatomegaly, Renal insufficiency, Anorexia, Splenomegaly, Jaundice, Depress...	ORPHA:108
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal aortic morphology, Multiple renal c...	ORPHA:1166
Glycogen Storage Disease Vii	Hematuria, Cholelithiasis, Jaundice, Exercise-induced myoglobinuria	OMIM:232800
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Lethargy, 3-Methylglutaconic aciduria, Elevated circulating creatine kinase concentration, Hypera...	OMIM:618120
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu...	OMIM:609015
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Feeding difficulties, Decreased circulating free fatty acid level, Diffuse pancreat...	ORPHA:276556
Glutaric Acidemia Type 3	Ketonuria, Glutaric aciduria, Abnormality of circulating enzyme level, Elevated circulating gluta...	ORPHA:35706
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Feeding difficulties, Decreased circulating free fatty acid level, Diffuse pancreat...	ORPHA:276575
Familial Hyperprolactinemia	Female hypogonadism, Hemorrhagic ovarian cyst, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea	ORPHA:397685
Peroxisome Biogenesis Disorder 11A (Zellweger)	Elevated hepatic transaminase, Multiple renal cysts, Decreased liver function, Renal cyst	OMIM:614883
Joubert Syndrome 18	Intrahepatic biliary atresia, Renal cyst, Horseshoe kidney	OMIM:614815
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Bowel incontinence...	ORPHA:2704
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Abdominal pain, Minimal change glomerulone...	ORPHA:656
Citrullinemia Type I	Hyperammonemia, Feeding difficulties, Gastroesophageal reflux, Vomiting, Elevated plasma citrulli...	ORPHA:247525
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Feeding difficulties in infancy, Abdominal distention, Constipation, Protuberant abdomen, Prolong...	ORPHA:226313
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Feeding difficulties, 3-Methylglutaconic aciduria, Bile duct proli...	OMIM:618329
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, S...	OMIM:266920
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Abdominal symptom, H...	ORPHA:400
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Abnormal circulating fatty-acid concent...	ORPHA:263455
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Hypothyroidism, Congenital, Nongoitrous, 7	Lethargy	OMIM:618573
Pancreatoblastoma	Abdominal pain, Abdominal distention, Diarrhea, Jaundice, Vomiting, Pancreatic calcification	ORPHA:677
Grfoma	Anorexia, Poor appetite, Lack of bowel sounds, Pheochromocytoma, Hepatomegaly, Intermittent jaund...	ORPHA:97261
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam...	ORPHA:71212
Familial Isolated Hyperparathyroidism	Abdominal symptom, Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroi...	ORPHA:99879
Congenital Heart Defects, Multiple Types, 3	Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor...	OMIM:614954
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Hyperuricemia, Uric acid...	ORPHA:411536
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Hepatic fibrosis, Malformation of the hepatic ductal...	ORPHA:84081
Liddle Syndrome	Nephropathy, Renal insufficiency, Hypokalemia, Constipation	ORPHA:526
Mpdu1-Cdg	Decreased response to growth hormone stimulation test, Renal cortical cysts	ORPHA:79323
Peroxisome Biogenesis Disorder 4A (Zellweger)	Feeding difficulties in infancy, Hepatomegaly, Renal cyst	OMIM:614862
Jeune Syndrome	Renal insufficiency, Feeding difficulties in infancy, Abnormality of the liver, Nephronophthisis,...	ORPHA:474
8P23.1 Microdeletion Syndrome	Hypospadias, Patent ductus arteriosus, Pulmonary artery stenosis, Hypertrophic cardiomyopathy, Ab...	ORPHA:251071
Myotonic Dystrophy 1	Feeding difficulties in infancy, Cholelithiasis, Testicular atrophy, Dysphagia	OMIM:160900
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Aminoaciduria, Hypoplasi...	OMIM:214110
Gaba-Transaminase Deficiency	Lethargy, Feeding difficulties	OMIM:613163
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Patent foramen ovale, Transposition of the great arteries	OMIM:616789
Trisomy 17P	Hypoplasia of penis, Urethral valve, Patent ductus arteriosus, Urethral stenosis, Hypoplastic lef...	ORPHA:261290
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Cystic renal dysplasia, Enlarge...	OMIM:200995
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Protein avoidance, Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Vomiting...	OMIM:237300
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Pulmonic stenosis	ORPHA:251076
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Diarrhea, Elevated circulating creatinine conc...	OMIM:235400
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Gillessen-Kaesbach-Nishimura Syndrome	Polycystic kidney dysplasia, Abnormal heart morphology	OMIM:263210
Phenobarbital Embryopathy	Abnormal mitral valve morphology, Tetralogy of Fallot, Hypospadias	ORPHA:1919
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Sple...	OMIM:216360
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Ventricular septal defect, Dextrocardia	OMIM:618067
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Abdominal distention, Microcolon, Megacystis, Fetal megacystis, Neonatal death, Hydr...	OMIM:619362
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Lethargy,...	OMIM:236270
Odontochondrodysplasia 1	Death in infancy, Polycystic kidney dysplasia, Nephronophthisis	OMIM:184260
Colonic Atresia	Peptic ulcer, Abdominal distention, Abnormal mesentery morphology, Duodenal stenosis, Abdominal s...	ORPHA:1198
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria, Constipation, Abnormal circulating lipid concen...	ORPHA:225
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hepatomegaly, Lethargy, Elevated hepatic transaminase, Dysphagia	OMIM:613561
Hypouricemia, Renal, 1	Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub...	OMIM:220150
Thyroid Hypoplasia	Abdominal distention, Jaundice, Constipation, Thyroid hypoplasia	ORPHA:95720
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Hematochezia, Cholestatic liver disease, Cho...	ORPHA:79095
Isolated Atp Synthase Deficiency	Hepatomegaly, Renal hypoplasia, Hyperammonemia, 3-Methylglutaconic aciduria, Hyperalaninemia, Let...	ORPHA:254913
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Ketonuria, Feeding difficulties in infancy, Hyperammonemia,...	OMIM:251110
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits...	ORPHA:449395
Crigler-Najjar Syndrome	Lethargy, Jaundice, Abnormality of the liver	ORPHA:205
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle...	ORPHA:3304
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa...	ORPHA:892
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Proteinuria, Abdominal pain, Peritonitis, Renal amyloidosis	OMIM:134610
Lessel-Kubisch Syndrome	Renal insufficiency, Renal hypoplasia	OMIM:618681
Sialuria	Elevated hepatic transaminase, Hepatomegaly, Episodic abdominal pain, Hepatosplenomegaly, Choleli...	ORPHA:3166
Lesch-Nyhan Syndrome	Hematuria, Renal insufficiency, Hyperuricemia	ORPHA:510
Peutz-Jeghers Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Pancreatic adenocarcinoma, Abdominal pain, B...	ORPHA:2869
Ellis Van Creveld Syndrome	Hydroureter, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Hypospadia...	ORPHA:289
Idiopathic Congenital Hypothyroidism	Feeding difficulties in infancy, Constipation, Prolonged neonatal jaundice, Lethargy, Neonatal hy...	ORPHA:95717
Glut1 Deficiency Syndrome 1	Lethargy, Paroxysmal lethargy	OMIM:606777
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbu...	OMIM:277900
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Inflammation of the large intestine, Hepatic steatosis, Tubulointerstitial fibr...	ORPHA:79259
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Esophageal spasms, Proteinuria, Decreased serum iron, Odyno...	ORPHA:447
Hereditary Spherocytosis	Hepatomegaly, Abdominal pain, Splenomegaly, Jaundice, Abdominal distention, Cholelithiasis	ORPHA:822
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Feeding difficulties in infancy, Diarrhea, Elevated circulating creatinine concentration, Gastroe...	OMIM:223900
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T...	ORPHA:470
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Pancreatic fibrosis, Pancre...	ORPHA:564
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal renal morphology, Ab...	ORPHA:477817
Methylmalonic Acidemia With Homocystinuria Type Cblf	Hypomethioninemia, Unilateral renal agenesis, Methylmalonic aciduria, Feeding difficulties, Eleva...	ORPHA:79284
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp...	ORPHA:79233
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Ventricular septal defect, Hypospadias, Parachute mitral valve, Patent ductus arteriosus, Atrial ...	OMIM:618316
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Glomerulopathy, Hemolytic-uremic syndrome, Feeding difficulties, Hyperhomocyst...	ORPHA:2169
Mitchell-Riley Syndrome	Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ...	OMIM:615710
Gonadoblastoma	Abdominal pain, Abdominal distention, Ovarian gonadoblastoma, Abnormality of the ovary, Dysgerminoma	ORPHA:206484
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating acylcarn...	ORPHA:159
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria	OMIM:245900
Microvillus Inclusion Disease	Villous atrophy, Abdominal distention, Diarrhea, Nephrocalcinosis, Abnormal small intestinal vill...	ORPHA:2290
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Hypouricemia, Xanthine nephrolithiasis, Poor ap...	ORPHA:3467
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Feeding difficulties...	OMIM:257200
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency	OMIM:249660
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog...	ORPHA:251004
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec...	ORPHA:105
Congenital Disorder Of Glycosylation, Type If	Renal cortical cysts	OMIM:609180
Cardiac-Urogenital Syndrome	Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus enlargement, Peri...	OMIM:618280
Trisomy X	Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Depression	ORPHA:3375
Hyperprolinemia Type 2	Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Abdominal pain, Diarrhea,...	ORPHA:79101
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro...	OMIM:618594
Chylomicron Retention Disease	Elevated hepatic transaminase, Abdominal distention, Diarrhea, Vomiting, Increased hepatocellular...	ORPHA:71
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Abnormality of the kidney,...	OMIM:137920
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Alpha-aminoadipic aciduria, Hyperglycinuria, L...	OMIM:605711
Fetal Encasement Syndrome	Tetralogy of Fallot, Increased urinary 8-oxo-7,8-dihydroguanosine level, Horseshoe kidney	OMIM:613630
Mosaic Trisomy 1	Hepatic agenesis, Renal cortical cysts, Renal cyst, Micropenis, Penile hypospadias	ORPHA:1692
Retinitis Pigmentosa 89	Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly	OMIM:618955
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema	OMIM:618773
Peroxisome Biogenesis Disorder 5A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Elevated circulating aspartate aminot...	OMIM:614866
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Feeding difficulties, Diffuse pancreatic islet hyperplasia, Lethargy, Increased C-p...	ORPHA:276580
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal distention...	ORPHA:92050
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Holocarboxylase Synthetase Deficiency	Nausea and vomiting, Anorexia, Hyperammonemia, Organic aciduria, Lethargy	ORPHA:79242
Amyloidosis, Finnish Type	Cardiomyopathy, Cardiac amyloidosis, Renal insufficiency, Nephrotic syndrome	OMIM:105120
Donohue Syndrome	Abdominal distention, Long penis, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic islet-c...	OMIM:246200
Primary Biliary Cholangitis	Portal hypertension, Abdominal distention, Jaundice, Hepatitis, Biliary cirrhosis, Gastrointestin...	ORPHA:186
C Syndrome	Hepatomegaly, Renal cortical cysts, Cryptorchidism	OMIM:211750
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Lymphatic Malformation 11	Pedal edema, Lymphedema	OMIM:619401
Visceral Myopathy, Familial, With External Ophthalmoplegia	Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri...	OMIM:277320
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Feeding difficulties, Decreased circulating free fatty acid level, Lethargy, Increa...	ORPHA:324575
Pseudotrisomy 13 Syndrome	Ventricular septal defect, Dextrocardia, Renal agenesis, Complete atrioventricular canal defect, ...	OMIM:264480
Orofaciodigital Syndrome I	Proteinuria, Pancreatic cysts, Ovarian cyst, Hepatic fibrosis, Polycystic kidney dysplasia, Hepat...	OMIM:311200
Cyclic Vomiting Syndrome	Anorexia, Abdominal pain, Gastrointestinal dysmotility, Vomiting, Lethargy, Nausea	OMIM:500007
Mitochondrial Complex I Deficiency, Nuclear Type 5	Hepatomegaly, Vomiting, Dysphagia, Lethargy, Episodic vomiting	OMIM:618226
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis,...	ORPHA:157
Acrorenal Syndrome	Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia	ORPHA:971
Rhabdomyolysis, Susceptibility To, 1	Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:620235
Familial Hypoaldosteronism	Hyponatremia, Nausea and vomiting, Renal salt wasting, Decreased urinary potassium, Diarrhea, Hyp...	ORPHA:427
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Feeding difficulties in infancy, Splenomegaly, Chole...	OMIM:261515
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Cryptorchidism, Methylmalonic aciduria, Hyperhomocysti...	OMIM:614857
Orofaciodigital Syndrome Type 1	Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pa...	ORPHA:2750
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Fe...	OMIM:251100
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Splenomegaly, Diarrhea, Constipation, ...	ORPHA:99745
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Nausea and vomiting, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Hypoperis...	ORPHA:2241
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Renal tubular dysfunction, Cholelithiasis, Hepatic failure, Poor suck	OMIM:614886
Developmental And Epileptic Encephalopathy 41	Nephrocalcinosis, Lethargy, Feeding difficulties	OMIM:617105
Bardet-Biedl Syndrome 19	Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Renal hypo...	OMIM:615996
Nephrotic Syndrome, Type 22	Nephrotic range proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glo...	OMIM:619155
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Diarrhea, Jaundice, Feeding difficul...	ORPHA:79239
Joubert Syndrome 4	Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop...	OMIM:609583
Alg1-Cdg	Renal insufficiency, Abnormality of the kidney, Chronic diarrhea, Nephrotic syndrome, Hypoalbumin...	ORPHA:79327
Al Amyloidosis	Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP c...	ORPHA:85443
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy	OMIM:613710
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,...	OMIM:208085
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:603278
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo...	OMIM:616892
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E...	ORPHA:228308
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst	OMIM:611773
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Focal segmental glomerulosclerosis, ...	OMIM:617303
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa...	ORPHA:99125
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy	OMIM:618683
Cholera	Hyponatremia, Abnormality of renal excretion, Achlorhydria, Abdominal pain, Diarrhea, Abnormal bl...	ORPHA:173
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Renal hypoplasia, Renal cyst, Hepatic fibrosis, Polycystic kidney dysplasia	OMIM:614091
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ab...	ORPHA:103910
Primary Pulmonary Hypoplasia	Secundum atrial septal defect, Ureteral stenosis, Abnormal pulmonary artery morphology, Dextrocardia	ORPHA:2257
Branchiootorenal Syndrome 1	Renal malrotation, Unilateral renal agenesis, Renal steatosis, Euthyroid goiter, Polycystic kidne...	OMIM:113650
Hereditary Central Diabetes Insipidus	Lethargy, Diarrhea, Vomiting	ORPHA:30925
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Cryptorchidism, Aminoaciduria, Albumi...	OMIM:214100
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s...	ORPHA:209902
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Acute hyperammonemia, Ketonuria, Hyperglycinuria, Hyperammonemia, Feeding difficulties, Organic a...	OMIM:210210
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Renal malrotation, Death in infancy, Pancreatic cysts, Dilatation of the re...	OMIM:274000
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Hypercalcemia	ORPHA:2668
Glycogen Storage Disease Xi	Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas...	OMIM:612933
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Double outlet left ventricle, Ventricular septal defect, Patent foramen ova...	OMIM:600001
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia	ORPHA:2123
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Joubert Syndrome 39	Hypoplastic left heart, Polycystic kidney dysplasia	OMIM:619562
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab...	OMIM:600740
Trichohepatoenteric Syndrome 1	Hepatomegaly, Hypospadias, Splenomegaly, Abnormality of the pancreas, Jaundice, Cholestasis, Gala...	OMIM:222470
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Glomerulopathy, Renal insufficiency, ...	ORPHA:91138
Primary Sclerosing Cholangitis	Acute hepatic failure, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomegaly, Portal hypert...	ORPHA:171
Scrub Typhus	Nausea and vomiting, Renal insufficiency, Abdominal pain, Splenomegaly, Lethargy	ORPHA:83317
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Glutaric aciduria, Lacticaciduri...	ORPHA:26791
Lambert Syndrome	Jaundice, Hypospadias, Intrahepatic biliary atresia, Cholestasis	ORPHA:1296
Lead Poisoning	Decreased HDL cholesterol concentration, Anorexia, Abdominal pain, Abdominal distention, Chronic ...	ORPHA:330015
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cryptorchidism, Pancreatic hyperplasia, Vesicoureteral reflux, Renal cortical cysts...	OMIM:130650
Drug-Induced Lupus Erythematosus	Hematuria, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr...	ORPHA:231111
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:256810
Mitochondrial Complex I Deficiency, Nuclear Type 4	Increased serum pyruvate, Lethargy, Vomiting	OMIM:618225
Cimdag Syndrome	Microvesicular hepatic steatosis, Feeding difficulties, Cholelithiasis, Hepatomegaly	OMIM:619273
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Abdominal pain, Hepatocellular carcinoma, ...	ORPHA:465508
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine...	OMIM:212138
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:161950
Pagod Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Situs inversus totalis, Pulmonary artery ...	ORPHA:991
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy, 2-ethylhydracylic aciduria	OMIM:610006
Dengue Fever	Nausea and vomiting, Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Diarrhea, Letharg...	ORPHA:99828
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Biotinidase Deficiency	Hepatomegaly, Feeding difficulties in infancy, Splenomegaly, Diarrhea, Hyperammonemia, Organic ac...	OMIM:253260
Atypical Hemolytic Uremic Syndrome	Hematuria, Acute kidney injury, Proteinuria	ORPHA:2134
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
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Renal dysplasia	OMIM:236500
Thyrocerebrorenal Syndrome	Renal insufficiency, Euthyroid goiter, Nephritis	ORPHA:3327
Thakker-Donnai Syndrome	Hydronephrosis, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries	ORPHA:1780
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Cyst of the ductus choledochus	OMIM:619480
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Renal ...	OMIM:617478
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Lethargy, Aminoaciduria, Feeding difficulties	OMIM:250620
Prune Belly Syndrome	Multicystic kidney dysplasia, Recurrent urinary tract infections, Ventricular septal defect, Rena...	ORPHA:2970
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy...	ORPHA:228302
Weiss-Kruszka Syndrome	Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi...	OMIM:618619
Carpenter Syndrome 1	Hydroureter, Ventricular septal defect, Patent ductus arteriosus, Transposition of the great arte...	OMIM:201000
Combined Oxidative Phosphorylation Deficiency 53	Hepatomegaly, Abdominal distention	OMIM:619423
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated hepatic transaminase, Renal insufficiency, Hypospadias, Supernumerary nipple, Renal cort...	ORPHA:397715
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Hepatosplenomegaly, Nephrotic syndrome, Membranous nephropathy, ...	OMIM:618999
Holocarboxylase Synthetase Deficiency	Feeding difficulties in infancy, Elevated urinary 3-methylcrotonylglycine level, Hyperammonemia, ...	OMIM:253270
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:261670
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Aciduria, Microvesicular hepa...	OMIM:203700
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Dextrocardia, Abnormal heart morphology, Abnormal aortic valve morp...	ORPHA:261197
Ovarian Fibrothecoma	Ovarian fibroma, Abdominal pain, Abdominal distention, Peritonitis, Abnormality of the ovary	ORPHA:314478
Laurence-Moon Syndrome	Hypoplasia of penis, Renal insufficiency, Congenital hepatic fibrosis, Cryptorchidism, Displaceme...	ORPHA:2377
Generalized Pseudohypoaldosteronism Type 1	Feeding difficulties in infancy, Cholelithiasis, Vomiting	ORPHA:171876
Hyperuricemia, Hprt-Related	Nephrolithiasis, Renal insufficiency, Hyperuricemia, Hyperuricosuria	OMIM:300323
46,Xy Sex Reversal 4	Renal dysplasia, Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, I...	OMIM:154230
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Ventricular septal defect, Dextrotransposition of the great arteries	OMIM:619995
Metachromatic Leukodystrophy	Urinary incontinence, Bowel incontinence, Abnormal gallbladder morphology, Feeding difficulties, ...	ORPHA:512
Castleman Disease	Nausea and vomiting, Intestinal obstruction, Renal insufficiency, Elevated circulating C-reactive...	ORPHA:160
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Ovarian Hyperstimulation Syndrome	Nausea and vomiting, Hemorrhagic ovarian cyst, Abdominal pain, Enlarged polycystic ovaries, Abdom...	ORPHA:64739
Ciliary Dyskinesia, Primary, 1	Situs inversus totalis	OMIM:244400
Ververi-Brady Syndrome	Transposition of the great arteries	OMIM:617982
Familial Thyroid Dyshormonogenesis	Feeding difficulties in infancy, Constipation, Prolonged neonatal jaundice, Lethargy, Abnormal ci...	ORPHA:95716
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Membranoproliferative glomeru...	OMIM:619644
Isolated Dandy-Walker Malformation	Tetralogy of Fallot	ORPHA:217
Joubert Syndrome 20	Renal cyst	OMIM:614970
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Renal cyst, Abnor...	ORPHA:1834
Letterer-Siwe Disease	Abdominal distention, Jaundice, Hepatosplenomegaly	OMIM:246400
Meckel Syndrome, Type 10	Micropenis, Renal cyst, Hypospadias, Malformation of the hepatic ductal plate	OMIM:614175
Isovaleric Acidemia	Lethargy, Vomiting, Hyperglycinuria	OMIM:243500
Qazi-Markouizos Syndrome	Chronic constipation, Abdominal distention, High, narrow palate, Cryptorchidism	ORPHA:3010
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Lethargy	OMIM:617900
Sepsis In Premature Infants	Hepatomegaly, Elevated circulating C-reactive protein concentration, Abdominal distention, Gastro...	ORPHA:90051
Cystinuria	Hematuria, Nephrolithiasis, Renal insufficiency, Hyperuricemia	ORPHA:214
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Chronic active hepatitis, Asplenia, Diarrhea, Nephrocalcinosis, Cholelithiasis	OMIM:240300
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hydronephrosis, Cyst of the ductus choledochus, Hypoplastic nipples, Renal dysplasia	ORPHA:480880
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Thyroid Dyshormonogenesis 1	Lethargy, Constipation, Goiter	OMIM:274400
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft pal...	OMIM:270420
Polyembryoma	Abnormal peritoneum morphology, Abdominal distention, Macroorchidism, Abdominal pain	ORPHA:180229
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,...	ORPHA:93111
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis, Cirrhosis	OMIM:601539
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Polyuria, Abdominal pain, Feeding difficulties in infancy, Hy...	OMIM:248250
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu...	OMIM:243910
Autosomal Recessive Dopa-Responsive Dystonia	Bradykinesia, Lethargy, Constipation, Feeding difficulties	ORPHA:101150
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Feeding difficulties...	OMIM:277400
Familial Reactive Perforating Collagenosis	Chronic kidney disease	ORPHA:79147
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea...	OMIM:191800
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Proteinuria, Abdominal pain, Abdominal distention, Diarrhea, Hem...	ORPHA:93552
Junctional Epidermolysis Bullosa With Pyloric Atresia	Nausea and vomiting, Urethral stricture, Abdominal distention, Urinary bladder inflammation, Cong...	ORPHA:79403
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Atrioventricular canal defect, Dextrocardia, Coarctation of aorta, Micropenis	OMIM:618929
Achondrogenesis, Type Ib	Abdominal distention, Stillbirth	OMIM:600972
Maternal Phenylketonuria	Ventricular septal defect, Abnormal renal morphology, Abnormal heart morphology, Coarctation of a...	ORPHA:2209
Dent Disease	Elevated circulating creatine kinase concentration, Nephrocalcinosis, Aminoaciduria, Low-molecula...	ORPHA:1652
Mosaic Trisomy 9	Hypoplasia of penis, Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Pa...	ORPHA:99776
Pontocerebellar Hypoplasia, Type 6	Lethargy, Gastroesophageal reflux, Poor suck, Feeding difficulties	OMIM:611523
Lysosomal Acid Lipase Deficiency	Renal salt wasting, Microvesicular hepatic steatosis, Vomiting, Hepatic fibrosis, Hyponatremia, A...	ORPHA:275761
Idiopathic Intracranial Hypertension	Lethargy, Vomiting, Nausea, Depression	ORPHA:238624
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Joubert Syndrome	Situs inversus totalis	ORPHA:475
Hereditary Elliptocytosis	Abdominal pain, Splenomegaly, Jaundice, Prolonged neonatal jaundice, Cholelithiasis	ORPHA:288
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Czeizel-Losonci Syndrome	Dextrocardia, Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydron...	ORPHA:2437
Meningococcal Meningitis	Renal insufficiency, Projectile vomiting, Elevated circulating C-reactive protein concentration, ...	ORPHA:33475
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis	OMIM:217085
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Protein avoidance, Oroticaciduria, Hepatitis, Hypera...	ORPHA:415
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Abnormal heart morphology, Polyc...	ORPHA:2237
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Chronic constipat...	ORPHA:261222
Fetal Minoxidil Syndrome	Cryptorchidism, Umbilical hernia, Ventricular septal defect	ORPHA:1918
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Hypercalcemia	ORPHA:33111
Familial Visceral Myopathy	Hyperparathyroidism, Hydroureter, Abdominal distention, Megacystis, Abdominal situs inversus, Ves...	ORPHA:2604
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Anorexia, Reye syndro...	ORPHA:20
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas...	ORPHA:2364
Orthostatic Hypotension 1	Hypomagnesemia, Retrograde ejaculation, Nocturia, Increased blood urea nitrogen	OMIM:223360
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Joubert Syndrome 5	Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr...	OMIM:610188
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy	OMIM:613002
Mitochondrial Complex I Deficiency, Nuclear Type 6	Left ventricular hypertrophy, Lethargy, Vomiting	OMIM:618228
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Glycogen Storage Disease Xii	Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferase concentration...	OMIM:611881
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration	OMIM:160010
Isolated Cleft Lip	Situs inversus totalis	ORPHA:199302
Hyperuricemic Nephropathy, Familial Juvenile, 3	Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst...	OMIM:614227
Mitochondrial Complex I Deficiency, Nuclear Type 9	Neonatal death, Lethargy, Feeding difficulties	OMIM:618232
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl...	ORPHA:2260
Central Neurocytoma	Nausea and vomiting, Lethargy, Depression	ORPHA:73256
Hereditary Hemorrhagic Telangiectasia	Gastrointestinal hemorrhage, Portal hypertension, Nephrolithiasis, Hematuria, Cholecystitis, Cirr...	ORPHA:774
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Portal inflammation, St...	ORPHA:101330
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Elevated circulating creatine...	OMIM:614455
Wild Type Attr Amyloidosis	Hepatomegaly, Renal insufficiency, Proteinuria, Bowel incontinence, Gastrointestinal dysmotility,...	ORPHA:330001
Metachromatic Leukodystrophy, Late Infantile Form	Feeding difficulties in infancy, Abdominal distention, Urinary incontinence, Cholecystitis	ORPHA:309256
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ...	ORPHA:158684
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:1937
Relapsing Fever	Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Abdominal p...	ORPHA:91547
Johanson-Blizzard Syndrome	Hypoplasia of penis, Hypospadias, Dextrocardia, Abnormal cardiac septum morphology, Hydronephrosis	ORPHA:2315
Meckel Syndrome 14	Abdominal distention, Hepatic fibrosis, Polycystic kidney dysplasia, Protuberant abdomen	OMIM:619879
Anterior Cutaneous Nerve Entrapment Syndrome	Recurrent urinary tract infections, Anorexia, Abdominal pain, Abdominal distention, Recurrent inf...	ORPHA:51890
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypoplasia of penis, Tetralogy of Fallot, Hypospadias	ORPHA:1381
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
17Q12 Microdeletion Syndrome	Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Renal hypoplasi...	ORPHA:261265
Renpenning Syndrome	Heterotaxy, Hypospadias	ORPHA:3242
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Cryptorchidism, Abdominal distention, Splenomegaly, Pancreatic lymphangiectasis, Cl...	OMIM:235255
Nephrogenic Diabetes Insipidus	Nausea and vomiting, Renal insufficiency, Hydroureter, Anorexia, Functional abnormality of the bl...	ORPHA:223
Hyperoxaluria, Primary, Type Ii	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:260000
Oculogastrointestinal Muscular Dystrophy	Spontaneous esophageal perforation, Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, ...	ORPHA:1876
Necrotizing Enterocolitis	Hyponatremia, Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting, Lethargy	ORPHA:391673
Kallmann Syndrome-Heart Disease Syndrome	Renal agenesis, Anomalous origin of left coronary artery from the pulmonary artery, Dilated cardi...	ORPHA:2326
Juvenile Nephropathic Cystinosis	Poor appetite, Aminoaciduria, Renal Fanconi syndrome, Vomiting, Hypocalcemia, Low-molecular-weigh...	ORPHA:411634
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Cryptorchidism, Abdominal distention, Splenomegaly, Pancreatic lymphangiectasis, Ab...	ORPHA:1655
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ...	OMIM:308940
8P Inverted Duplication/Deletion Syndrome	Dextrocardia, Abnormal heart morphology, Abnormality of the urinary system, Micropenis, Tetralogy...	ORPHA:96092
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Peripheral Primitive Neuroectodermal Tumor	Nausea and vomiting, Neoplasm of the pancreas, Pelvic mass, Anorexia, Abdominal distention, Jaund...	ORPHA:370348
Syndromic Diarrhea	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Renal hypoplasia, Abn...	ORPHA:84064
Febrile Infection-Related Epilepsy Syndrome	Lethargy	ORPHA:163703
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Ventricular septal defect, Hypospadias, Pulmonary artery atresia, M...	OMIM:301056
Hydrocephaly-Low Insertion Umbilicus Syndrome	Patent ductus arteriosus, Abnormality of the urinary system, Tetralogy of Fallot, Anomalous pulmo...	ORPHA:2184
Say Syndrome	Proximal renal tubular acidosis, Cystic renal dysplasia	OMIM:181180
Schimke Immuno-Osseous Dysplasia	Proteinuria, Minimal change glomerulonephritis, Abdominal distention, Hyperlipidemia, Stage 5 chr...	ORPHA:1830
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Abdominal pain, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Classic Glucose Transporter Type 1 Deficiency Syndrome	Lethargy	ORPHA:71277
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Double outlet left ventricle, Ventricular septal defect, Patent foramen ova...	ORPHA:2255
Wolcott-Rallison Syndrome	Hyponatremia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insuffici...	ORPHA:1667
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Lethargy, Pancreatic islet-cell hyperplasia	ORPHA:276608
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab...	OMIM:123550
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Acute pancreatitis, Poor appetite, Abdominal pain, Diarrhea, Hepatit...	ORPHA:319218
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Unilateral renal agenesis, Feeding difficulties, Ovarian cyst, Gastroesophag...	OMIM:618188
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Lethargy, Vomiting, Hyperglycinemia, Hepatomegaly	OMIM:614299
Phelan-Mcdermid Syndrome	Ventricular septal defect, Abnormality of the kidney, Patent ductus arteriosus, Polycystic kidney...	OMIM:606232
Cystinosis	Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Hypokalemia, Am...	ORPHA:213
Spondylocostal Dysostosis 1, Autosomal Recessive	Abdominal distention, Protuberant abdomen	OMIM:277300
Marden-Walker Syndrome	Micropenis, Hypospadias, Dextrocardia, Renal hypoplasia	OMIM:248700
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse, Polycystic ovaries, Coar...	ORPHA:371428
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Hyperuricosuria, Hyperuricemia, Acute kidney injury, Uric acid...	ORPHA:411543
North American Indian Childhood Cirrhosis	Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice	OMIM:604901
Fructose-1,6-Bisphosphatase Deficiency	Lethargy, Increased urinary glycerol, Hepatomegaly	OMIM:229700
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Hepatomegaly, Cystathioninuria, Methylmalonic aciduria, Feeding difficult...	OMIM:277380
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hyperechogenic kidneys, Polycystic kidney dysplasia	OMIM:617866
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Lethargy, Abnormal renal corticomedullary differentiation, Hepatom...	OMIM:617397
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Dehydrated Hereditary Stomatocytosis	Abdominal pain, Portal vein thrombosis, Splenomegaly, Intermittent jaundice, Cholelithiasis	ORPHA:3202
Dopamine Beta-Hydroxylase Deficiency	Diarrhea, Elevated urinary dopamine level, Elevated circulating creatinine concentration, Vomitin...	ORPHA:230
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Feeding difficult...	OMIM:301006
Bardet-Biedl Syndrome	Multicystic kidney dysplasia, Hypoplasia of penis, Cryptorchidism, Nephrotic syndrome, Hypoplasia...	ORPHA:110
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Proteinuria, Cryptorchidism, Di...	ORPHA:90321
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:26793
Thiamine-Responsive Megaloblastic Anemia Syndrome	Lethargy, Diarrhea, Anorexia	ORPHA:49827
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Congenital hepatic fibrosis, Multicystic kidney dysplasia, Renal cyst	ORPHA:2031
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Elevated circulating creatine kinase concentration, Feeding difficulties in infancy, Chronic kidn...	ORPHA:324525
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cholangitis, Splenomegaly, Bili...	OMIM:613610
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Hyperphenylalaninemia, Bh4-Deficient, B	Lethargy, Dysphagia, Hyperphenylalaninemia	OMIM:233910
Transketolase Deficiency	Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary artery course, P...	ORPHA:488618
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hyperuricemia	ORPHA:3222
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Genetic Recurrent Myoglobinuria	Elevated hepatic transaminase, Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise...	ORPHA:99845
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Biliary atresia	ORPHA:565899
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Hyperalaninemia, Lethargy	OMIM:312170
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Senior-Loken Syndrome 9	Stage 5 chronic kidney disease, Cholestasis, Tubulointerstitial nephritis, Hepatic fibrosis, Neph...	OMIM:616629
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos...	OMIM:253800
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P...	ORPHA:1454
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
Combined Immunodeficiency-Enteropathy Spectrum	Abdominal distention, Hepatitis, Bloody diarrhea, Hypoplasia of the thymus, Abnormal ductus chole...	ORPHA:436252
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c...	OMIM:619525
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Feeding difficulties, Nephrocalci...	ORPHA:445038
Hyperparathyroidism-Jaw Tumor Syndrome	Nausea and vomiting, Pancreatic adenocarcinoma, Renal insufficiency, Hypercalcemia, Renal hamarto...	ORPHA:99880
Lymphoid Interstitial Pneumonia	Hepatomegaly, Enlarged kidney	ORPHA:79128
Chromosome 15Q25 Deletion Syndrome	Ventricular septal defect, Dextrocardia, Coronary artery fistula, Abnormal cardiac septum morphol...	OMIM:614294
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Abdominal pain, Rena...	ORPHA:93126
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Feeding difficulties in infancy, Cholelithiasis	OMIM:618775
Sickle Cell Anemia	Pigment gallstones, Abnormality of the spleen, Cholestasis	ORPHA:232
Metachromatic Leukodystrophy, Adult Form	Urinary incontinence, Bowel incontinence, Abdominal distention, Cholecystitis, Neoplasm of the ga...	ORPHA:309271
Distal Duplication 5Q	Ventricular septal defect, Dextrocardia, Hypospadias	ORPHA:96097
Myh9-Related Disease	Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Nephropathy, Nephritis	ORPHA:182050
Metachromatic Leukodystrophy, Juvenile Form	Abdominal distention, Urinary incontinence, Cholecystitis	ORPHA:309263
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Poor appetite, Splenomegaly, Diarrhea, Decreased serum zinc, Lethargy, Decreased te...	OMIM:201100
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Anorexia, Chronic diarrhea, Hyp...	OMIM:557000
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased serum pyruvate, Lethargy, Hepatomegaly, Feeding difficulties	OMIM:604377
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Vesicoureteral reflux, Renal cortical cysts	OMIM:618548
Genetic Transient Congenital Hypothyroidism	Increased circulating thyroglobulin level, Feeding difficulties, Constipation, Prolonged neonatal...	ORPHA:226316
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Recurrent urinary tract infections, Portal hypertension, Cholestas...	OMIM:613658
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Chronic kidney disease, Cholestasis, Hepatic fibrosis, Nephronophthis...	OMIM:615630
Adams-Oliver Syndrome 4	Atrial septal defect, Umbilical hernia, Ventricular septal defect	OMIM:615297
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Abdominal distention, Chronic diarrhea, Cholestasis, Vomiting, Gastroesophageal reflux	OMIM:620233
Cranioacrofacial Syndrome	Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Pituitary hypothyroidism, Depression, Prolonged neon...	ORPHA:99832
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve, Aortic root aneu...	OMIM:616652
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect	OMIM:178370
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Renal insufficiency, Recurrent u...	OMIM:619487
Epidermal Nevus Syndrome	Polycystic kidney dysplasia	ORPHA:35125
Parathyroid Carcinoma	Nausea and vomiting, Pancreatic adenocarcinoma, Renal insufficiency, Hypercalcemia, Renal hamarto...	ORPHA:143
Variant Abeta2M Amyloidosis	Chronic kidney disease, Gastrointestinal infarctions, Hepatic amyloidosis, Renal amyloidosis, Abn...	ORPHA:314652
Dysostosis Multiplex, Ain-Naz Type	Abdominal distention	OMIM:619345
Sialuria	Hepatomegaly, Splenomegaly, Hypoplastic nipples, Protuberant abdomen, Increased level of N-acetyl...	OMIM:269921
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Increased circulating gonadotropi...	ORPHA:347
Transcobalamin Ii Deficiency	Hepatomegaly, Diarrhea, Methylmalonic aciduria, Vomiting, Lethargy	OMIM:275350
Porphyria Variegata	Hyponatremia, Elevated hepatic transaminase, Neurogenic bladder, Abdominal pain, Abnormal circula...	ORPHA:79473
Fraser Syndrome 2	Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Abdominal distention, Rectal a...	OMIM:617666
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:616730
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, Elevated circulating creatin...	OMIM:614376
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Diffuse hepatic steatosis, Feeding difficulties in infancy, Cholestasis, Hypo...	ORPHA:746
Multicentric Carpotarsal Osteolysis Syndrome	Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease	OMIM:166300
Acquired Ichthyosis	Renal insufficiency	ORPHA:454
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal mesentery morphology, Abnorma...	ORPHA:2075
Susac Syndrome	Nausea and vomiting, Lethargy, Apathy	ORPHA:838
Diaphanospondylodysostosis	Multiple renal cysts	ORPHA:66637
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Joubert Syndrome 7	Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Anti-Glomerular Basement Membrane Disease	Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:375
Alg9-Cdg	Hepatomegaly, Hypoplasia of the bladder, Ureteral hypoplasia, Diarrhea, Periportal fibrosis, Hypo...	ORPHA:79328
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise...	ORPHA:368
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Tetralogy of Fallot, Renal cyst, Sta...	ORPHA:2044
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Legionnaires Disease	Hyponatremia, Nausea and vomiting, Renal insufficiency, Proteinuria, Anorexia, Abdominal pain, Sp...	ORPHA:549
Neurooculorenal Syndrome	Hypoplasia of the bladder, Dextrocardia, Unilateral renal agenesis, Stage 2 chronic kidney diseas...	OMIM:620305
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Hyperkalemia, Renal hypoplasia, Feeding diff...	OMIM:617595
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st...	OMIM:618164
Isolated Complex I Deficiency	Increased serum pyruvate, Hepatomegaly, Feeding difficulties, Proximal tubulopathy, Vomiting, Let...	ORPHA:2609
Pentalogy Of Cantrell	Absent gallbladder, Renal agenesis, Hypospadias, Polysplenia, Renal dysplasia	ORPHA:1335
Spondyloepimetaphyseal Dysplasia, Shohat Type	Splenomegaly, Hepatomegaly, Abdominal distention	OMIM:602557
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N...	OMIM:300554
Distal Renal Tubular Acidosis	Hyperphosphaturia, Poor appetite, Hypocitraturia, Diarrhea, Nephrolithiasis, Renal cyst, Hypercal...	ORPHA:18
Cardioacrofacial Dysplasia 1	Complete atrioventricular canal defect, Atrioventricular canal defect	OMIM:619142
Late-Onset Isolated Acth Deficiency	Hyponatremia, Nausea and vomiting, Hypoparathyroidism, Hypercalcemia, Anorexia, Abdominal pain, D...	ORPHA:199299
Verheij Syndrome	Renal agenesis, Ventricular septal defect, Renal hypoplasia, Renal cyst, Truncus arteriosus	OMIM:615583
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hypomethioninemia, Methylmalonic aciduria, Hyperhomocystinemia, Lethargy,...	OMIM:277410
Folinic Acid-Responsive Seizures	Abdominal distention	ORPHA:79097
Thyroid Ectopia	Abdominal distention, Jaundice, Constipation, Ectopic thyroid	ORPHA:95712
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Nephrotic syndrome, Heavy pr...	ORPHA:505248
Bardet-Biedl Syndrome 6	Hypospadias, Renal cyst	OMIM:605231
Spinal Muscular Atrophy, Type I	Atrial septal defect, Ventricular septal defect	OMIM:253300
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Gastroesophageal r...	OMIM:619534
Mody	Elevated hemoglobin A1c, Abnormality of the kidney, Abnormal circulating C-peptide concentration,...	ORPHA:552
Vater/Vacterl Association	Renal dysplasia, Ventricular septal defect, Hypospadias, Renal agenesis, Ectopic kidney, Patent d...	OMIM:192350
Reni Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Crypt...	OMIM:617575
Prolactin Deficiency, Isolated	Irregular menstruation, Infertility	OMIM:264110
Heart Defects-Limb Shortening Syndrome	Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu...	ORPHA:1354
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d...	OMIM:617730
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:617731
Renpenning Syndrome 1	Ventricular septal defect, Hypospadias, Phimosis, Situs inversus totalis, Renal hypoplasia, Atria...	OMIM:309500
Triosephosphate Isomerase Deficiency	Splenomegaly, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis	OMIM:615512
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Abdominal distention, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal co...	OMIM:619351
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cholelithiasis, Micropenis, Decreased testicular size, Cryptorchidism	OMIM:300534
Microphthalmia, Syndromic 12	Neonatal death, Cryptorchidism, Hypoplastic left atrium, Ventricular septal defect	OMIM:615524
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Pituitary adenoma, Chronic kidney disease, Parath...	ORPHA:805
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Syndromic Recessive X-Linked Ichthyosis	Cryptorchidism, Renal insufficiency, Testicular seminoma, Unilateral renal agenesis	ORPHA:281090
Frasier Syndrome	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Nephrotic syndro...	OMIM:136680
Currarino Syndrome	Neurogenic bladder, Recurrent urinary tract infections, Anal stenosis, Urinary incontinence, Peri...	OMIM:176450
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia	OMIM:154020
Meckel Syndrome, Type 1	Accessory spleen, Hypoplasia of the bladder, Renal agenesis, Malformation of the hepatic ductal p...	OMIM:249000
Mckusick-Kaufman Syndrome	Hydroureter, Cryptorchidism, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephrosis	OMIM:236700
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated hepatic transaminase, Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney dise...	ORPHA:284426
Achondrogenesis Type 1A	Abdominal distention	ORPHA:93299
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Nephropathy, Nephroblastoma	OMIM:194072
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Poor appetite, Diarrhea, Elevated circulating creatinine concentra...	ORPHA:542323
Benign Samaritan Congenital Myopathy	Lethargy	ORPHA:324581
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/apl...	ORPHA:2473
Isolated Thyroid-Stimulating Hormone Deficiency	Thyroid hypoplasia, Feeding difficulties in infancy, Pituitary hypothyroidism, Increased circulat...	ORPHA:90674
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Hypercalcemia, Thyroid C cell hyperplasia, Elevated urinary...	ORPHA:653
H Syndrome	Hypertriglyceridemia, Abnormality of the kidney, Hepatosplenomegaly, Micropenis, Decreased testic...	ORPHA:168569
Evans Syndrome	Lethargy, Jaundice	ORPHA:1959
Beckwith-Wiedemann Syndrome	Hepatomegaly, Ureteral duplication, Elevated circulating alpha-fetoprotein concentration, Cardiom...	ORPHA:116
Distal Deletion 12Q	Unilateral cryptorchidism, Ectopic kidney, Pituitary adenoma, Biliary atresia, Annular pancreas, ...	ORPHA:96149
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Hemoly...	ORPHA:79282
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro...	OMIM:248190
Hypothyroidism Due To Tsh Receptor Mutations	Thyroid hypoplasia, Increased circulating thyroglobulin level, Feeding difficulties in infancy, C...	ORPHA:90673
Hemihyperplasia-Multiple Lipomatosis Syndrome	Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney	ORPHA:276280
Leukoencephalopathy With Vanishing White Matter 1	Lethargy	OMIM:603896
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatomegaly, Recurrent urinary tract infections, Elevated circulating aspartate aminotransferase...	OMIM:615559
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Abdominal pain, Biliary tract abnormality, Abnormality...	OMIM:175200
Multifocal Atrial Tachycardia	Feeding difficulties in infancy, Lethargy, Cryptorchidism	ORPHA:3282
Knobloch Syndrome	Vesicoureteral reflux, Patent ductus arteriosus, Bifid ureter, Dextrocardia	ORPHA:1571
Muckle-Wells Syndrome	Renal insufficiency, Renal amyloidosis, Elevated circulating C-reactive protein concentration	OMIM:191900
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis	OMIM:617661
Congenital Alveolar Capillary Dysplasia	Asplenia, Absent gallbladder, Annular pancreas, Hydronephrosis	ORPHA:210122
Peroxisome Biogenesis Disorder 13A (Zellweger)	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio...	OMIM:614887
Chime Syndrome	Ventricular septal defect, Abnormality of the kidney, Tetralogy of Fallot, Transposition of the g...	ORPHA:3474
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Ventricular septal defect, Tubular luminal dilatation, Renal corticomedullar...	OMIM:219730
Hypocomplementemic Urticarial Vasculitis	Nausea and vomiting, Hepatomegaly, Glomerulopathy, Renal insufficiency, Proteinuria, Abdominal pa...	ORPHA:36412
Boutonneuse Fever	Elevated hepatic transaminase, Renal insufficiency, Abdominal pain, Diarrhea, Nausea	ORPHA:83313
Systemic Capillary Leak Syndrome	Renal insufficiency, Abdominal pain, Diarrhea, Oliguria, Pancreatitis, Abnormal renal tubule morp...	ORPHA:188
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Ureteropelvic junction obstruction, Duplicated collecting system, Ventricular septal defect, Pulm...	OMIM:280000
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Chronic pancreatitis, Hyperlipidemia, Hematuria, ...	OMIM:232240
Congenital Disorder Of Glycosylation, Type Ig	Hypospadias, Cryptorchidism, Feeding difficulties, Hypocalcemia, Lethargy, Micropenis, Poor suck	OMIM:607143
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl...	ORPHA:480536
Cerebrotendinous Xanthomatosis	Cholelithiasis, Pseudobulbar paralysis, Diarrhea	OMIM:213700
Shigellosis	Hyponatremia, Acute kidney injury, Anorexia, Abdominal pain, Hemolytic-uremic syndrome, Peritonit...	ORPHA:810
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo...	OMIM:609057
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Hydranencephaly, Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis	OMIM:601355
Down Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part...	OMIM:190685
Joubert Syndrome 35	Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections	OMIM:618161
Biliary Cirrhosis, Primary, 1	Biliary cirrhosis	OMIM:109720
Vacterl/Vater Association	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A...	ORPHA:887
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo...	ORPHA:261183
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Constipation, Male urethral meatus stenosis, Cholelithiasis, Hydronephrosis	ORPHA:464738
22Q11.2 Deletion Syndrome	Ventricular septal defect, Abnormal pulmonary valve morphology, Hypospadias, Retinal arteriolar t...	ORPHA:567
Leprechaunism	Hepatomegaly, Enlarged ovaries, Abdominal distention, Long penis, Hypercalciuria, Nephrocalcinosi...	ORPHA:508
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Abdominal pain, Abdominal distention, Diarrhea, Depression, Vomiti...	OMIM:212750
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated hepatic transaminase, Bipolar affective disorder, Gastroparesis, Elevated circulating cr...	ORPHA:254892
Hypouricemia, Renal, 2	Hypouricemia, Nephrolithiasis	OMIM:612076
Familial Adenomatous Polyposis 4	Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cyst	OMIM:617100
Mesoaxial Hexadactyly And Cardiac Malformation	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:249670
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Micropenis, Hepatic fibrosis, Polycystic kidney dysplasia	OMIM:263520
Microscopic Polyangiitis	Nausea and vomiting, Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Abdominal ...	ORPHA:727
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Atrial septal defect, Micropenis, Polycystic kidney dysplasia	OMIM:616546
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, T...	OMIM:301050
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Feeding difficulties in infancy, Diarrh...	OMIM:212065
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Biliary tract abnormality, Prot...	OMIM:209920
X-Linked Intellectual Disability, Nascimento Type	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Double outlet right ventricle, ...	ORPHA:163956
Porphyria, Congenital Erythropoietic	Hepatomegaly, Splenomegaly, Jaundice, Red urine, Cholelithiasis, Pink urine	OMIM:263700
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ...	OMIM:619343
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys...	DECIPHER:81
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Mucopolysaccharidu...	OMIM:252500
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Splenomegaly, Chronic diarrhea, Feeding difficulties, Recurrent pancreatitis, Decre...	OMIM:618268
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho...	OMIM:618913
Apparent Mineralocorticoid Excess	Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Renal so...	ORPHA:320
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ...	ORPHA:93598
Joubert Syndrome With Ocular Defect	Dextrocardia	ORPHA:220493
Alstrom Syndrome	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Chronic act...	OMIM:203800
Hajdu-Cheney Syndrome	Hypospadias, Ventricular septal defect, Patent ductus arteriosus, Renal cyst, Polycystic kidney d...	OMIM:102500
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Renal agenesis, Bowel incontinence, Ectopic kidney, Cr...	ORPHA:3027
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Elevated circulating acylcarnitine concentration, Hyperalaninemia, Abnormal circulating creatine ...	OMIM:615838
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap...	OMIM:612561
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho...	ORPHA:456312
Catel-Manzke Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:1388
Rhyns Syndrome	Renal insufficiency, Decreased response to growth hormone stimulation test, Chronic kidney diseas...	OMIM:602152
Mmep Syndrome	Cryptorchidism, Ventricular septal defect	ORPHA:3434
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, ...	OMIM:146255
Gaucher Disease, Type Ii	Hepatomegaly, Splenomegaly, Feeding difficulties, Gastroesophageal reflux, Protuberant abdomen, D...	OMIM:230900
Schimke Immunoosseous Dysplasia	Renal insufficiency, Proteinuria, Bilateral cryptorchidism, Stage 5 chronic kidney disease, Nephr...	OMIM:242900
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Giant Cell Arteritis	Renal insufficiency, Pericarditis, Vasculitis, Hematuria, Aortic dissection, Double outlet right ...	ORPHA:397
Isolated Sedoheptulokinase Deficiency	Renal insufficiency, Portal hypertension, Hepatitis, Cholestasis, Cholestatic liver disease, Abno...	ORPHA:440713
Carpenter Syndrome 2	Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Transposition of the great arteri...	OMIM:614976
Fabry Disease	Renal insufficiency, Proteinuria, Abdominal pain, Diarrhea, Tenesmus, Urinary mulberry cells, Vom...	OMIM:301500
Nemaline Myopathy 9	Ventricular septal defect	OMIM:615731
Smith-Lemli-Opitz Syndrome	Gastrointestinal dysmotility, Renal cyst, Vomiting, Hypoalbuminemia, Gastroesophageal reflux, Hyp...	OMIM:270400
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ...	OMIM:617641
Ogden Syndrome	Global glomerulosclerosis, Peripheral pulmonary artery stenosis, Bicuspid aortic valve, Left atri...	OMIM:300855
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin...	OMIM:300539
Diets-Jongmans Syndrome	Heterotaxy, Interrupted inferior vena cava with azygous continuation, Ventricular septal defect, ...	OMIM:618846
Liddle Syndrome 1	Renal insufficiency, Hypokalemia, Decreased circulating renin level	OMIM:177200
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin...	OMIM:613090
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect, Abnormal localization of kidney	ORPHA:83473
Pyruvate Dehydrogenase Deficiency	Feeding difficulties in infancy, Lethargy	ORPHA:765
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Feeding difficulties in infancy, Abdominal distention,...	OMIM:218700
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Feeding difficulties in infancy, Cryptor...	ORPHA:912
Endocrine-Cerebroosteodysplasia	Hypospadias, Cryptorchidism, Microphallus, Hyperechogenic kidneys, Enlarged kidney	OMIM:612651
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Abdominal pain, Hyperlipidemia, Chronic kidney disease, Stage ...	ORPHA:567546
Nephrolithiasis, Calcium Oxalate, 1	Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit...	OMIM:167030
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal c...	OMIM:620306
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Lethargy, Ethylmalonic aciduria, Feeding difficulties	OMIM:201470
Distal Deletion 15Q	Multicystic kidney dysplasia, Bicuspid aortic valve, Mitral atresia, Hypospadias, Double outlet r...	ORPHA:1596
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo...	ORPHA:699
Familial Mediterranean Fever	Hepatomegaly, Elevated circulating C-reactive protein concentration, Abdominal pain, Orchitis, Sp...	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, Abnormality of the ureter, Aplasia of the bladder, Polycystic kidn...	OMIM:200980
Transcobalamin Deficiency	Acute kidney injury, Methylmalonic aciduria	ORPHA:859
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:254900
Gaucher Disease Type 1	Hepatomegaly, Proteinuria, Anorexia, Abdominal pain, Hypersplenism, Splenomegaly, Hematuria, Cirr...	ORPHA:77259
Insulinoma	Lethargy, Abnormality of the pancreatic islet cells, Primary hyperparathyroidism, Pituitary prola...	ORPHA:97279
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri...	OMIM:219800
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Renal insufficiency, Elevated circulating creatine kinase concentr...	ORPHA:99826
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Joubert Syndrome 9	Hepatic fibrosis, Stage 5 chronic kidney disease	OMIM:612285
Femoral-Facial Syndrome	Renal agenesis, Ventricular septal defect, Abnormal renal collecting system morphology, Micropeni...	OMIM:134780
Trisomy 8P	Cryptorchidism, Fetal pyelectasis, Micropenis, Nephrocalcinosis, Constipation, Aplasia/Hypoplasia...	ORPHA:264450
Steinfeld Syndrome	Absent gallbladder, Unilateral renal dysplasia	OMIM:184705
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Nephropathy, Renal insufficiency, Hypocalcemia	ORPHA:1563
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Hepatosplenomegaly, Chronic constipation, Cholecystitis, Cholelithiasis	OMIM:301066
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect	OMIM:243440
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hypomethioninemia, Feeding difficulties in infancy, Hyperhomocystinemia, Cystathioninemia, Lethar...	ORPHA:395
Idiopathic Hypereosinophilic Syndrome	Elevated hepatic transaminase, Cholangitis, Abdominal pain, Feeding difficulties in infancy, Sple...	ORPHA:3260
Snakebite Envenomation	Hyponatremia, Diarrhea, Neuromuscular dysphagia, Pseudobulbar paralysis, Vomiting, Hypopituitaris...	ORPHA:449285
Renal Agenesis	Renal insufficiency, Renal agenesis, Ventricular septal defect, Unilateral renal agenesis, Protei...	ORPHA:411709
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Decreas...	OMIM:251290
Peroxisome Biogenesis Disorder 8A (Zellweger)	Ventricular septal defect	OMIM:614876
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Intestinal malrotation, Hamartoma of tongue, Splenomegaly, Renal hypoplasia, Lobula...	OMIM:269860
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Abdominal distention, Secretory diarrhea, Hypochloremia, Hypokalemia, Increased cir...	OMIM:214700
Microphthalmia, Syndromic 9	Renal malrotation, Ventricular septal defect, Pulmonary artery atresia, Patent ductus arteriosus,...	OMIM:601186
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis	OMIM:204690
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph...	OMIM:618348
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Cryptorchidism, Constipation, Fetal ...	ORPHA:73246
Intellectual Developmental Disorder, Autosomal Recessive 73	Ventricular septal defect	OMIM:619717
Bohring-Opitz Syndrome	Nephroblastoma, Cardiomegaly, Feeding difficulties in infancy, Vomiting, Urinary retention, Chole...	ORPHA:97297
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal defect,...	ORPHA:2847
Multiple Endocrine Neoplasia Type 1	Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Gastroesopha...	ORPHA:652
Exercise-Induced Malignant Hyperthermia	Acute kidney injury, Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, ...	ORPHA:466650
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal pain, Abdominal distention, Diarrhea, Colitis, Steatorrhea, Exocrine pancreatic insuffi...	ORPHA:309031
Aapoaiv Amyloidosis	Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem...	ORPHA:439232
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect, Vesicoureteral reflux	ORPHA:228399
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea...	ORPHA:3337
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Generalized aminoaciduria, Hypocalcemia, Protuberant abdomen, Hypophosphatemia, Secondary hyperpa...	OMIM:264700
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Abdominal distention, Gastroesophageal reflux, Feeding difficulties	OMIM:620275
Glycerol Kinase Deficiency	Hypertriglyceridemia, Increased urinary glycerol, Hyperglycerolemia, Chronic pancreatitis, Crypto...	OMIM:307030
Helix Syndrome	Renal insufficiency, Hyperparathyroidism, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia...	OMIM:617671
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Hypoplastic left heart, Ventricular septal defect, Spina bifida	ORPHA:2476
Bacterial Toxic-Shock Syndrome	Renal insufficiency, Recurrent urinary tract infections, Elevated circulating creatine kinase con...	ORPHA:36234
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abdominal distention, Hepatosplenomegaly	ORPHA:93352
Li-Campeau Syndrome	Ventricular septal defect, Cryptorchidism, Atrial septal defect, Micropenis, Patent foramen ovale	OMIM:619189
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Lactose intolerance, Hypospadias, Cryptorchidism, Protuberant abdomen, Intestinal polyp	ORPHA:457485
Trisomy 10P	Absent gallbladder, Abnormality of the kidney, Gastroesophageal reflux, Multiple renal cysts, Dys...	ORPHA:171929
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Diarrhea, Abnormal blood ion concentration, Oliguria, Hypophos...	ORPHA:31824
Phosphoglycerate Kinase 1 Deficiency	Renal insufficiency, Exercise-induced myoglobinuria	OMIM:300653
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Bowel incontinence, Supernumerary nipple, ...	ORPHA:261494
Platyspondylic Dysplasia, Torrance Type	Abdominal distention, Cleft palate	ORPHA:85166
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Viral hepatitis, Renal insufficiency, Membranoproliferative glomerul...	ORPHA:91139
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Renal insufficiency, Hyperbilirubinemia	ORPHA:713
Lymphedema-Hypoparathyroidism Syndrome	Hypoparathyroidism, Nephropathy, Renal insufficiency	OMIM:247410
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Urogenital sinu...	OMIM:618901
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Renal agenesis, Intestinal malrotation, Renal hypopla...	ORPHA:2538
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Ventricular septal defect, Muscular ventricular septal defect, Renal hypoplasia, Renal cyst, Coar...	OMIM:210710
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal insufficiency, Hypoplasia of penis, Cryptorchidism, Renal hypoplasia, Renal dysplasia	ORPHA:85321
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Crypto...	OMIM:615873
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Renal insufficiency, Cryptorchidism, Depression, Feeding difficulties, Apath...	ORPHA:96147
Hadziselimovic Syndrome	Ventricular hypertrophy, Ventricular septal defect, Renal hypoplasia, Atrial septal defect, Tetra...	OMIM:612946
Nabais Sa-De Vries Syndrome, Type 2	Feeding difficulties in infancy, Chronic constipation, Multicystic kidney dysplasia, Gastroesopha...	OMIM:618829
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Abdominal pain, Diarrhea, Peritonitis, Elevated circulating creatinine conc...	ORPHA:90038
Restrictive Dermopathy	Ureteral duplication, Hypospadias, Dextrocardia, Patent ductus arteriosus, Ascending tubular aort...	ORPHA:1662
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperparathyroidis...	OMIM:620366
Bartter Syndrome Type 4	Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili...	ORPHA:89938
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect	OMIM:619980
Trisomy 13	Ventricular septal defect, Patent ductus arteriosus, Abnormality of the ureter, Multiple renal cy...	ORPHA:3378
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney	ORPHA:500095
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Hepatomegaly, Hypospadias, Feeding difficulties in infancy, Splen...	OMIM:252010
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased serum pyruvate, Renal insufficiency, Vomiting, Mild proteinuria, Hyperalaninemia	OMIM:619147
Avian Influenza	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu...	ORPHA:454836
Alagille Syndrome 1	Elevated hepatic transaminase, Duplicated collecting system, Hypertriglyceridemia, Hepatocellular...	OMIM:118450
Matthew-Wood Syndrome	Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Abnormal ...	ORPHA:2470
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Hepatitis, Tubulointer...	ORPHA:139402
Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Hydronephrosis, Cryptorchidism	OMIM:300712
Cranioectodermal Dysplasia 1	Hepatomegaly, Malformation of the hepatic ductal plate, Renal magnesium wasting, Chronic kidney d...	OMIM:218330
Magel2-Related Prader-Willi-Like Syndrome	Cryptorchidism, Feeding difficulties, Chronic constipation, Gastroesophageal reflux, Small pituit...	ORPHA:398069
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Nephrocalci...	OMIM:615398
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Ventricular septal defect	OMIM:613759
Histiocytoid Cardiomyopathy	Hepatomegaly, Cardiomegaly, Renal cyst, Polycystic ovaries, Vomiting, Lethargy	ORPHA:137675
Diffuse Cutaneous Systemic Sclerosis	Nausea and vomiting, Renal insufficiency, Oliguria, Gastroesophageal reflux, Dysphagia, Abnormal ...	ORPHA:220393
Mercury Poisoning	Anorexia, Episodic abdominal pain, Hypokalemia, Acute kidney injury, Episodic vomiting, Nausea	ORPHA:330021
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart	OMIM:616276
Encephalitis Lethargica	Lethargy, Urinary incontinence, Bowel incontinence	ORPHA:83600
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Renal agenesis, Ventricular septal defect, Pat...	OMIM:220500
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus, Pulmonic stenosis	OMIM:618223
Hurler Syndrome	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate excretion in uri...	OMIM:607014
Distal Limb Deficiencies-Micrognathia Syndrome	Cryptorchidism, Renal insufficiency, Proteinuria, Renal hypoplasia	ORPHA:1307
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,...	OMIM:265300
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,...	OMIM:616843
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, Vomiting, Nausea, Decre...	ORPHA:340
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne...	OMIM:619609
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn...	ORPHA:139507
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Abnormal vena cava morphology, Ventricular septal defect, Renal cyst, Horseshoe kidney	ORPHA:166035
Acute Adrenal Insufficiency	Hyponatremia, Nausea and vomiting, Renal insufficiency, Hypercalcemia, Anorexia, Abdominal pain, ...	ORPHA:95409
Chromosome 17Q12 Deletion Syndrome	Elevated hepatic transaminase, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent...	OMIM:614527
Glycogen Storage Disease Due To Aldolase A Deficiency	Myoglobinuria, Elevated creatine kinase after exercise, Acute kidney injury, Hyperkalemia	ORPHA:57
Lathosterolosis	Elevated hepatic transaminase, Bilobate gallbladder, Intrahepatic cholestasis, Horseshoe kidney, ...	OMIM:607330
14Q24.1Q24.3 Microdeletion Syndrome	Ventricular septal defect, Ectopic kidney, Cryptorchidism, Abnormal heart morphology, Atrial sept...	ORPHA:401935
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ...	OMIM:301043
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Protein avoidance, Increased circulating ferritin concentration, Dia...	OMIM:222700
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Enlarged kidney, Feeding difficulties	OMIM:261740
X-Linked Acrogigantism	Enlarged pituitary gland, Elevated circulating growth hormone concentration, Abdominal distention...	ORPHA:300373
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Neoplasm of the liver, Decreased liver function, Cirrh...	ORPHA:77293
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Ventricular septal defect, Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, ...	OMIM:613404
Ventricular Septal Defect 3	Atrial septal defect, Ventricular septal defect	OMIM:614432
Kyphoscoliotic Ehlers-Danlos Syndrome	Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Bladder diverticul...	ORPHA:536545
Poland Syndrome	Duplicated collecting system, Hypospadias, Dextrocardia, Renal hypoplasia/aplasia, Vesicoureteral...	ORPHA:2911
Pallister-Hall Syndrome	Thyroid dysgenesis, Renal dysplasia, Hydroureter, Decreased response to growth hormone stimulatio...	OMIM:146510
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Diarrhea, Vomiting, Left ventricular hypertrophy, Lethargy, Episodic vomiting	OMIM:618321
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Functional abnormalit...	ORPHA:29073
Ring Chromosome 7 Syndrome	Situs inversus totalis, Hypospadias	ORPHA:1449
Sim1-Related Prader-Willi-Like Syndrome	Cryptorchidism, Small pituitary gland, Lethargy, Micropenis, Decreased testicular size, Nasogastr...	ORPHA:398079
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Ventricular septal defect, Hypospadias	OMIM:618330
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive protein conce...	ORPHA:319213
14Q11.2 Microdeletion Syndrome	Ventricular septal defect	ORPHA:261120
Tetrasomy 9P	Renal dysplasia, Pericarditis, Recurrent urinary tract infections, Juxtaductal coarctation of the...	ORPHA:3310
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate excretion in uri...	OMIM:253220
Aromatic L-Amino Acid Decarboxylase Deficiency	Feeding difficulties in infancy, Diarrhea, Constipation, Gastroesophageal reflux, Lethargy	OMIM:608643
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Vasculitis, Sterile pyur...	ORPHA:2331
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Hypospadias, Patent ductus arteriosus, Hypoplastic aorti...	OMIM:300166
Yellow Fever	Acute pancreatitis, Anuria, Renal insufficiency, Elevated circulating creatine kinase concentrati...	ORPHA:99829
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Cleft palate, Protuberant abdomen	OMIM:184250
Familial Dysautonomia	Hyponatremia, Abnormal peritoneum morphology, Glomerulopathy, Renal insufficiency, Abnormality of...	ORPHA:1764
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Protuberant abdomen	OMIM:613330
Frank-Ter Haar Syndrome	Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de...	OMIM:249420
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Hypospadias, Decreased response to growth hormone stimulation test, Bilatera...	ORPHA:96179
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:3469
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:3186
Cat Eye Syndrome	Ventricular septal defect, Renal agenesis, Patent ductus arteriosus, Vesicoureteral reflux, Horse...	OMIM:115470
Fadd-Related Immunodeficiency	Ventricular septal defect	ORPHA:306550
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria, Hypocalcemia, Protuberant abdomen, Hypophosphatemia, Secondary hyperpa...	ORPHA:289157
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypomagnesemi...	OMIM:619743
Generalized Pustular Psoriasis	Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive...	ORPHA:247353
Sifrim-Hitz-Weiss Syndrome	Renal insufficiency, Ventricular septal defect, Cryptorchidism, Vesicoureteral reflux, Atrial sep...	OMIM:617159
Roberts Syndrome	Cryptorchidism, Long penis, Polycystic kidney dysplasia	ORPHA:3103
Hypotonia, Infantile, With Psychomotor Retardation	Cryptorchidism, Ventricular septal defect	OMIM:616816
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
Eosinophilic Granulomatosis With Polyangiitis	Nausea and vomiting, Glomerulopathy, Intestinal obstruction, Renal insufficiency, Proteinuria, Ab...	ORPHA:183
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Cryptorchidism, Micropenis, Hydronephrosis	ORPHA:163979
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Lethargy, Vomiting, Dysphagia	OMIM:607483
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Glomeru...	OMIM:233450
Achondrogenesis, Type Ii	Cleft palate, Stillbirth, Protuberant abdomen	OMIM:200610
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Pancreatic aplasia	ORPHA:556955
Catel-Manzke Syndrome	Overriding aorta, Ventricular septal defect, Dextrocardia, Coarctation of aorta	OMIM:616145
Eisenmenger Syndrome	Hepatomegaly, Renal insufficiency, Elevated circulating C-reactive protein concentration, Abdomin...	ORPHA:97214
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Biotinidase Deficiency	Lethargy, Organic aciduria, Hyperammonemia	ORPHA:79241
Primary Hyperoxaluria	Elevated hepatic transaminase, Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic ...	ORPHA:416
Fibrochondrogenesis 2	Protuberant abdomen	OMIM:614524
Stevens-Johnson Syndrome	Acute hepatic failure, Gastrointestinal hemorrhage, Nausea and vomiting, Elevated hepatic transam...	ORPHA:36426
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Complement Factor I Deficiency	Glomerulonephritis, Renal insufficiency, Recurrent urinary tract infections, Pyelonephritis	OMIM:610984
Bardet-Biedl Syndrome 9	Renal insufficiency	OMIM:615986
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Cryptorchidism, Ventricular septal defect, Hypoplasia of penis, Hypoplastic left heart	ORPHA:2772
Enamel-Renal Syndrome	Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En...	ORPHA:1031
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus arteriosus, Coarctation ...	OMIM:612474
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Dyspepsia, Proteinuria, Hypoperistalsis, Chronic kidney disease, Stage 5 chronic kidney disease, ...	ORPHA:1018
Schneckenbecken Dysplasia	Cleft palate, Stillbirth, Protuberant abdomen	OMIM:269250
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Congenital hepatic fibrosis, Abdominal distention, C...	ORPHA:93271
Fanconi Anemia, Complementation Group Q	Biliary atresia	OMIM:615272
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:614262
Kasabach-Merritt Syndrome	Abdominal distention, Hepatic hemangioma, Abdominal pain	ORPHA:2330
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Crossed fused renal ectopia, Ventricular septal defect, Hypoplastic right heart, Unilateral renal...	OMIM:618142
Humeroradial Synostosis	Renal insufficiency	OMIM:236400
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Feeding difficulties, Lethargy, Right ventricular hypertrophy	ORPHA:1329
Congenital Disorder Of Glycosylation, Type Iig	Renal insufficiency, Hypospadias, Feeding difficulties in infancy, Hemolytic-uremic syndrome, Cry...	OMIM:611209
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated hepatic transaminase, Acute kidney injury, Proteinuria, Elevated circulati...	ORPHA:94093
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit...	OMIM:137940
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Protuberant abdomen	OMIM:617102
16P12.1P12.3 Triplication Syndrome	Abnormal intrahepatic bile duct morphology, Chronic constipation, Decreased response to growth ho...	ORPHA:485405
Serkal Syndrome	Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Ventricular septal defect, ...	ORPHA:139466
Trisomy 1Q	Multicystic kidney dysplasia, Ventricular septal defect, Patent ductus arteriosus, Congenital meg...	ORPHA:261344
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Ventricular septal defect, Mitral atresia, Unilateral renal agenesis, Ascending aorta hypoplasia,...	OMIM:619503
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Abdominal distention, Hydronephrosis, Urethral atresia	OMIM:271520
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Fabry Disease	Nausea and vomiting, Glomerulopathy, Renal insufficiency, Proteinuria, Anorexia, Abdominal pain, ...	ORPHA:324
Zttk Syndrome	Absent gallbladder, Polyuria, Unilateral renal agenesis, Feeding difficulties in infancy, Chronic...	OMIM:617140
Ogden Syndrome	Lethargy, Cryptorchidism	ORPHA:276432
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ...	ORPHA:2306
Staphylococcal Necrotizing Pneumonia	Lethargy, Elevated circulating C-reactive protein concentration	ORPHA:36238
Subaortic Stenosis-Short Stature Syndrome	Biliary tract abnormality	ORPHA:3191
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:616277
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Nasogastric tube feeding in infancy, Hyp...	ORPHA:369837
Simpson-Golabi-Behmel Syndrome, Type 1	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Renal cyst, Cardiomyopathy, Dup...	OMIM:312870
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Tricuspid stenosis, Abnormality of the kidney, Multiple mus...	ORPHA:391641
Joubert Syndrome 1	Nephropathy, Hepatic fibrosis, Renal cyst	OMIM:213300
Isolated Klippel-Feil Syndrome	Ventricular septal defect, Spina bifida, Renal hypoplasia/aplasia	ORPHA:2345
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Splenomegaly, Abnormality of the spleen, Hepatosplenomegaly, Feeding difficulties, Hepatic fibros...	ORPHA:2072
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Truncus arteriosus, Renal agenesis, Ventricular septal defect, Renal hypoplasia/aplasia	ORPHA:2516
Pseudo-Torch Syndrome 3	Increased circulating ferritin concentration, Acute kidney injury, Proteinuria, Cardiomegaly	OMIM:618886
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Elevated hepatic transaminase, Abnormal penis morphology, Dysuria, Anorexia, Oral-pharyngeal dysp...	ORPHA:95455
Intellectual Developmental Disorder, Autosomal Recessive 71	Cryptorchidism, Micropenis, Ventricular septal defect, Unilateral renal agenesis	OMIM:618504
Calciphylaxis	Hyperphosphatemia, Stage 5 chronic kidney disease, Secondary hyperparathyroidism	ORPHA:280062
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu...	ORPHA:226307
Thanatophoric Dysplasia, Type I	Neonatal death, Protuberant abdomen	OMIM:187600
Alternating Hemiplegia Of Childhood	Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Gastrointestinal dysmotility, Diarrhea...	ORPHA:2131
Ethylene Glycol Poisoning	Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfunction, ...	ORPHA:31826
Vitamin D-Dependent Rickets, Type 2A	Protuberant abdomen, Secondary hyperparathyroidism, Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Holoprosencephaly 14	Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia	OMIM:619895
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616898
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Abnormal aortic arch morphology, Abnormal cardiac sept...	ORPHA:2059
Systemic Sclerosis	Renal insufficiency, Gastroparesis, Elevated circulating creatine kinase concentration, Bowel inc...	ORPHA:90291
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypospadias, Cryptorchidism, Urolithiasis, Hyperuricosuria, Hyperuricemia, U...	OMIM:300661
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Cryptorchidism, Hypoplasia of penis, Ventricular septal defect, Renal hypoplasia	ORPHA:2256
Joubert Syndrome 14	Intracranial hemorrhage, Ventricular septal defect, Renal cyst	OMIM:614424
Immunoglobulin A Vasculitis	Nausea and vomiting, Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Proteinuri...	ORPHA:761
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Parathyroid agenesis, Unilateral renal agenesis, Splenomega...	OMIM:188400
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Abdominal pain, Pancreatitis, Diarrhea, Hyperkalemia, Secretory diarrhea, O...	ORPHA:544482
Neu-Laxova Syndrome 1	Ventricular septal defect, Renal agenesis, Patent ductus arteriosus, Transposition of the great a...	OMIM:256520
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Absent pulmonary artery, Coarct...	OMIM:600460
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Ectopic kidney, Malrotation of colon, Cryptorchidism, High, narrow pala...	OMIM:122470
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Dysphagia,...	ORPHA:488627
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Feeding difficulties in infancy, Crypt...	OMIM:257300
Joubert Syndrome With Renal Defect	Nephropathy, Renal insufficiency, Feeding difficulties	ORPHA:220497
Medulloblastoma	Nausea and vomiting, Lethargy, Elevated hepatic transaminase	ORPHA:616
Cardiac Valvular Dysplasia 1	Ventricular septal defect, Left atrial enlargement, Edema, Tricuspid stenosis, Valvular pulmonary...	OMIM:212093
Toxic Epidermal Necrolysis	Acute hepatic failure, Gastrointestinal hemorrhage, Nausea and vomiting, Elevated hepatic transam...	ORPHA:537
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect	OMIM:618506
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Cryptorchidism, Abnormal heart mor...	ORPHA:500159
Constricting Bands, Congenital	Ectopia cordis, Bladder exstrophy	OMIM:217100
Weill-Marchesani Syndrome	Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis	ORPHA:3449
Johanson-Blizzard Syndrome	Ventricular septal defect, Hypospadias, Urethrovaginal fistula, Situs inversus totalis, Dilated c...	OMIM:243800
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Horseshoe kidney, Renal cyst, Feeding difficulties	OMIM:250410
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Patent ductus arteriosus, Renal cyst, Coarctation of aorta, Mitral stenosis, Renal dysplasia	OMIM:617260
Dyrk1A-Related Intellectual Disability Syndrome	Hypospadias, Anterior pituitary hypoplasia, Unilateral renal agenesis, Cryptorchidism, Pyloric st...	ORPHA:464306
Rhizomelic Limb Shortening With Dysmorphic Features	Stage 1 chronic kidney disease, Patent foramen ovale	OMIM:618821
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Abnormal ...	OMIM:618494
Glycine Encephalopathy	Lethargy, Poor suck, Hyperglycinemia	ORPHA:407
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Anorexia, Splenomegaly, Diarrhea	ORPHA:33226
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Nephroblastoma, Ventricular septal defect	OMIM:602501
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Mul...	ORPHA:220460
Harrod Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Hypospadias	ORPHA:2115
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Renal hypoplasia, Renal cyst, Feeding difficulties, Dysphagia, Vesicoureter...	OMIM:618460
Severe Acute Respiratory Syndrome	Acute kidney injury	ORPHA:140896
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f...	OMIM:618652
Refsum Disease	Splenomegaly, Renal insufficiency	ORPHA:773
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Feeding difficulties, Posteri...	ORPHA:464311
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Pancreatic aplasia, Absent gallbladder, Elevated circulating alanine aminotransferase concentrati...	OMIM:618500
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2715
Williams Syndrome	Hypoplasia of penis, Cardiomegaly, Abnormal tubulointerstitial morphology, Nephrocalcinosis, Gast...	ORPHA:904
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Abnormal renal morphology, Atri...	ORPHA:329224
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:617044
Penile Agenesis	Urethral atresia, male, Ventricular septal defect, Hydroureter, Fetal pyelectasis, Bilateral rena...	ORPHA:49
Exstrophy-Epispadias Complex	Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias...	ORPHA:322
Hermansky-Pudlak Syndrome 1	Renal insufficiency, Abdominal pain, Hematochezia, Inflammation of the large intestine, Colitis	OMIM:203300
Developmental Delay With Or Without Dysmorphic Facies And Autism	Supernumerary nipple, Cryptorchidism, Renal hypoplasia, Renal cyst, Feeding difficulties, Microph...	OMIM:618454
Donnai-Barrow Syndrome	Umbilical hernia, Ventricular septal defect, Proteinuria	ORPHA:2143
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase a...	ORPHA:423
Fryns Syndrome	Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Renal agenesis, Aganglionic megacol...	OMIM:229850
Ring Chromosome 13 Syndrome	Hypoplasia of the gallbladder, Hypospadias, Abnormal renal physiology, Micropenis, Urogenital sin...	ORPHA:96176
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Intestinal pseudo-obstruction, Decreased response to growth hormon...	ORPHA:273
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Renal insufficiency, Glomerulonephritis, Malnutrition, Chronic kidney disease...	ORPHA:79408
Cerebrotendinous Xanthomatosis	Cholelithiasis, Chronic diarrhea, Prolonged neonatal jaundice	ORPHA:909
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Feeding difficulties in infancy, Oligosacchariduria, Nephroca...	ORPHA:534
Atelosteogenesis Type I	Multiple renal cysts, Abnormal pancreatic duct morphology	ORPHA:1190
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:618974
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Ventricular septal defect, Renal cyst, Mitral valve prolapse, Varicose veins, ...	OMIM:617107
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Feeding difficulties, Nephrotic sy...	OMIM:251300
Galloway-Mowat Syndrome 9	Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Gastroesophageal reflux, Stage 5...	OMIM:619603
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Renal insufficiency, Cholestasis	ORPHA:293173
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Stillbirth, Protuberant abdomen	OMIM:151210
Lamellar Ichthyosis	Renal insufficiency	ORPHA:313
Holoprosencephaly-Caudal Dysgenesis Syndrome	Renal insufficiency	ORPHA:2165
Noonan Syndrome 12	Tetralogy of Fallot, Ventricular septal defect	OMIM:618624
Mitochondrial Complex I Deficiency, Nuclear Type 29	Hyperalaninemia, Stage 5 chronic kidney disease, Vomiting, Lacticaciduria	OMIM:618250
Genitopatellar Syndrome	Multicystic kidney dysplasia, Cryptorchidism, Feeding difficulties, Gastroesophageal reflux, Hydr...	ORPHA:85201
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Hypospadias, Cryptorchidism, Long penis, Biliary tract abnormality, Horseshoe k...	OMIM:268300
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Renal insufficiency, Hypoalbuminemia, Proteinuria	OMIM:610965
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent urinary tract infections, Ventricular septal defect	OMIM:620210
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect	ORPHA:94066
Cardiofaciocutaneous Syndrome 3	Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis	OMIM:615279
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Mucopolysaccharidur...	ORPHA:581
Hand-Foot-Genital Syndrome	Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure...	OMIM:140000
Noonan Syndrome 9	Cryptorchidism, Hydroureter, Ventricular septal defect, Pulmonic stenosis	OMIM:616559
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Hypospadias, Feeding difficulties, Small pituitary gland, Protuberant abdomen, Tube feeding, Micr...	OMIM:619479
Immunodeficiency 96	Multicystic kidney dysplasia	OMIM:619774
Joubert Syndrome 2	Renal insufficiency, Renal cyst, Nephronophthisis	OMIM:608091
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Cholangitis, Abnormality of the kidney, Retroperitoneal fibrosis, Abnormal p...	ORPHA:449432
Hellp Syndrome	Elevated hepatic transaminase, Proteinuria, Abdominal pain, Hemoglobinuria, Vomiting, Acute kidne...	ORPHA:244242
Microcephaly-Capillary Malformation Syndrome	Ventricular septal defect, Vesicoureteral reflux, Atrial septal defect, Patent foramen ovale, Rig...	OMIM:614261
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Micropenis	OMIM:617925
Burn-Mckeown Syndrome	Atrial septal defect, Ventricular septal defect, Renal hypoplasia, Unilateral renal agenesis	OMIM:608572
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra...	ORPHA:2614
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Tubulointerstitial nephritis, Ventricular septal defect, Proteinuria	OMIM:616901
Joubert Syndrome 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:608629
Opsismodysplasia	Renal phosphate wasting, Protuberant abdomen, Hypophosphatemia	OMIM:258480
Erdheim-Chester Disease	Nausea and vomiting, Renal insufficiency, Dysuria, Abdominal pain, Retroperitoneal fibrosis, Hydr...	ORPHA:35687
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:259900
Fibrochondrogenesis 1	Cleft palate, Stillbirth, Protuberant abdomen	OMIM:228520
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Hamartoma of tongue, Cryptorchidism, Renal hypoplasia, Renal cyst, Cleft palate, Lobulated tongue...	OMIM:616300
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Complete atrioventricular canal defect, Urinary incontinence	ORPHA:476126
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe...	OMIM:619472
Microsporidiosis	Cholangitis, Anorexia, Nausea, Abdominal pain, Abnormality of the spleen, Peritonitis, Chronic di...	ORPHA:2552
Serotonin Syndrome	Acute kidney injury, Diarrhea, Hepatic failure, Nausea	ORPHA:43116
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Abnormal renal morphology, Vesicoureteral reflux, Renal hypoplasia, Ho...	OMIM:609053
Granulomatosis With Polyangiitis	Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Glomerulopathy, Uretera...	ORPHA:900
3C Syndrome	Hypoplasia of penis, Ventricular septal defect, Abnormal mitral valve morphology, Hypospadias, Ab...	ORPHA:7
Charge Syndrome	Overriding aorta, Ventricular septal defect, Renal agenesis, Pulmonary artery atresia, Secundum a...	OMIM:214800
Suleiman-El-Hattab Syndrome	Ventricular septal defect, Cryptorchidism, Atrial septal defect, Patent foramen ovale, Hydronephr...	OMIM:618950
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Umbilical hernia, Ventricular septal defect, Vesicoureteral reflux	OMIM:615879
Kufor-Rakeb Syndrome	Urinary incontinence, Bowel incontinence, Bradykinesia, Apathy, Dysphagia, Lethargy	ORPHA:306674
Orotic Aciduria	Orotic acid crystalluria, Ventricular septal defect, Hematuria, Atrial septal defect, Oroticaciduria	OMIM:258900
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Craniofacial Dyssynostosis With Short Stature	Cryptorchidism, Ventricular septal defect, Hypospadias, Horseshoe kidney	OMIM:218350
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Cryptorchidism, Abdominal situs inversus, Pulmonic stenosis, Atriovent...	OMIM:619123
Filippi Syndrome	Cryptorchidism, Ventricular septal defect	OMIM:272440
Adams-Oliver Syndrome 6	Truncus arteriosus, Ventricular septal defect, Renal hypoplasia	OMIM:616589
Trisomy 20P	Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local...	ORPHA:261318
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
Inverted Duplicated Chromosome 15 Syndrome	Cryptorchidism, Tetralogy of Fallot, Ventricular septal defect, Unilateral renal agenesis	ORPHA:3306
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Conotruncal defect	ORPHA:40366
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Hepatomegaly, Renal insufficiency, Reduced pancreatic beta cells	OMIM:226980
Noonan Syndrome 8	Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Atrial septal defect, Hypertrophic ...	OMIM:615355
Ulbright-Hodes Syndrome	Abnormal penis morphology, Cryptorchidism, Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:3404
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis	OMIM:607598
Oculoauriculofrontonasal Syndrome	Encephalocele, Ventricular septal defect	ORPHA:398156
Meier-Gorlin Syndrome 7	Urethral stricture, Ventricular septal defect, Hypospadias, Complete atrioventricular canal defec...	OMIM:617063
Intellectual Developmental Disorder, Autosomal Dominant 48	Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve, Hypospadias	OMIM:617751
Acute Liver Failure	Gastrointestinal hemorrhage, Elevated hepatic transaminase, Diarrhea, Jaundice, Hepatitis, Hypera...	ORPHA:90062
Cocaine Intoxication	Proteinuria, Elevated circulating creatine kinase concentration, Glomerulonephritis, Abdominal pa...	ORPHA:90068
Leopard Syndrome 1	Hypospadias, Unilateral renal agenesis, Complete atrioventricular canal defect, Mitral valve prol...	OMIM:151100
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Supernumerary nipple, Feeding difficulties, Hydronephrosis, High pa...	ORPHA:261349
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Atrioventricular canal defec...	OMIM:265380
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Neurogenic bladder, Hydroureter...	ORPHA:90324
Trigonocephaly With Short Stature And Developmental Delay	Ventricular septal defect	OMIM:314320
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morph...	ORPHA:980
Amoebiasis Due To Free-Living Amoebae	Lethargy, Intrarenal abscess, Vomiting, Nausea	ORPHA:68
Stankiewicz-Isidor Syndrome	Ureteral duplication, Ventricular septal defect, Hypospadias, Cryptorchidism, Micropenis, Truncus...	OMIM:617516
Joubert Syndrome With Oculorenal Defect	Nephropathy, Renal insufficiency	ORPHA:2318
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphol...	ORPHA:284169
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Ventricular septal defect	ORPHA:3369
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Abnormal aortic valve morphology, Microscopic h...	ORPHA:86818
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Panhypopituitarism, Feeding difficulties, ...	ORPHA:220386
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Panhypopituitarism, Feeding difficulties, ...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Panhypopituitarism, Feeding difficulties, ...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Panhypopituitarism, Feeding difficulties, ...	ORPHA:93924
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Umbilical hernia, Abnormality of the ureter, Ventricular septal defect, Renal hypoplasia/aplasia	ORPHA:1770
Trichinellosis	Lethargy, Apathy, Nausea, Dysphagia	ORPHA:863
Zygomycosis	Gastrointestinal hemorrhage, Renal insufficiency, Abdominal pain, Hematemesis, Pancreatitis, Diar...	ORPHA:73263
Grange Syndrome	Ventricular septal defect	ORPHA:79094
Emanuel Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Truncus arteriosus, Unilateral ren...	OMIM:609029
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Unilateral renal agenesis, Horsesh...	OMIM:613680
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia	ORPHA:3015
Greenberg Dysplasia	Hepatomegaly, Hepatic calcification, Hepatosplenomegaly, Stillbirth, Pancreatic islet-cell hyperp...	OMIM:215140
Sarcoidosis	Hepatomegaly, Renal insufficiency, Portal hypertension, Enlarged lacrimal glands, Nephrolithiasis...	ORPHA:797
Cystic Fibrosis	Hepatomegaly, Meconium ileus, Diarrhea, Ileus, Biliary cirrhosis, Hypercalciuria, Hepatosplenomeg...	OMIM:219700
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Lethal Kniest-Like Dysplasia	Cleft palate, Protuberant abdomen	ORPHA:2347
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts, Elevated circulating creati...	OMIM:618733
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis	ORPHA:1297
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypospadias, Cryptorchidism, Renal cyst, Feeding difficulties, Furrowed tongue, Gastroesophageal ...	OMIM:616975
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Atrial septal defect, Micropenis, Ventricular septal defect	OMIM:613870
Distal Deletion 10Q	Functional abnormality of the bladder, Horseshoe kidney, Feeding difficulties, Enuresis, Vesicour...	ORPHA:96148
Martin-Probst Syndrome	Renal insufficiency, Proteinuria, Cryptorchidism, Chordee, Hypoplastic nipples, Micropenis	OMIM:300519
Atelosteogenesis, Type I	Cryptorchidism, Cleft palate, Stillbirth, Protuberant abdomen, Neonatal death	OMIM:108720
2Q37 Microdeletion Syndrome	Pyloric stenosis, Multicystic kidney dysplasia, Nephroblastoma, Supernumerary nipple	ORPHA:1001
Atelis Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:620184
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Gastroparesis, Unilateral renal agenesis, Bilateral renal dysplasia, Feeding ...	ORPHA:500150
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva...	OMIM:309000
Tuberous Sclerosis 1	Renal cyst, Cardiac rhabdomyoma, Renal cell carcinoma, Renal angiomyolipoma, Pulmonary lymphangio...	OMIM:191100
Kleefstra Syndrome 1	Micropenis, Abnormal renal morphology, Hypospadias, Conotruncal defect	OMIM:610253
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome	OMIM:161200
Focal Dermal Hypoplasia	Acute hepatic failure, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Abdominal pain, Ho...	ORPHA:2092
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Renal insufficiency, Renal agenesis, Mitral atresia, Ectopic kidney, Horseshoe kidney, Abnormal c...	ORPHA:140952
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Recurrent urinary tract infections, Ventricular septal defect, Hypospadias, Cryptorchidism, Horse...	OMIM:619103
Achondrogenesis, Type Ia	Stillbirth, Protuberant abdomen, Protruding tongue	OMIM:200600
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Hypospadias, Cryptorchidism, Abnormal heart morphology, Vesicoureteral...	ORPHA:494344
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Umbilical hernia, Patent fo...	ORPHA:369891
8Q24.3 Microdeletion Syndrome	Ventricular septal defect, Abnormality of the kidney, Unilateral renal agenesis, Complete atriove...	ORPHA:508488
Periventricular Nodular Heterotopia 7	Cryptorchidism, Ventricular septal defect	OMIM:617201
Neu-Laxova Syndrome 2	Cleft palate, High palate, Protuberant abdomen	OMIM:616038
Congenital Disorder Of Glycosylation, Type Iil	Ventricular septal defect, Unilateral renal agenesis, Proximal tubulopathy, Atrial septal defect,...	OMIM:614576
Joubert Syndrome 21	Splenomegaly, Hyperechogenic kidneys, Renal cyst, Dysphagia	OMIM:615636
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Feeding difficulties in infancy, Abn...	ORPHA:1606
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Large placenta, Umbilical hernia, Ventricular septal defect, Abnormal heart morphology	ORPHA:254534
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Renal cyst, Cardiac rhabdomyoma, Renal cell ca...	OMIM:613254
Hamamy Syndrome	Atrial septal defect, Complete atrioventricular canal defect	OMIM:611174
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Left ventricular hypertrop...	OMIM:615474
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect	ORPHA:93267
Cockayne Syndrome	Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria...	ORPHA:191
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Ventricular septal defect, Anterior encephalocele	OMIM:601357
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventricular septal defect, Abnormal medullary pyramid morphology	ORPHA:79243
Mucolipidosis Type Ii	Splenomegaly, Hepatosplenomegaly, Protuberant abdomen, Left ventricular hypertrophy, Gastrostomy ...	ORPHA:576
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy, Hy...	OMIM:616897
Noonan Syndrome 4	Ureteral duplication, Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Atrial septal...	OMIM:610733
Chromosome 5Q12 Deletion Syndrome	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:615668
Listeriosis	Liver abscess, Abdominal pain, Diarrhea, Jaundice, Peritonitis, Pyelonephritis, Hepatic granuloma...	ORPHA:533
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Atrial septal defect, Ventricular septal defect, Renal hypoplasia	ORPHA:75389
Jansen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve	OMIM:617450
Floating-Harbor Syndrome	Hypospadias, Glandular hypospadias, Coarctation of aorta, Nephrocalcinosis, Congenital posterior ...	OMIM:136140
Schinzel-Giedion Syndrome	Streak ovary, Hypospadias, Nephroblastoma, Aganglionic megacolon, Abnormality of the ureter, Neph...	ORPHA:798
Alagille Syndrome	Ventricular septal defect, Renal hypoplasia/aplasia, Cryptorchidism, Abnormality of the ureter, N...	ORPHA:52
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
Tyshchenko Syndrome	Atrial septal defect, Cryptorchidism, Ventricular septal defect, Pulmonic stenosis	OMIM:615102
Leptospirosis	Nausea and vomiting, Hepatomegaly, Anorexia, Abdominal pain, Cellular urinary casts, Diarrhea, Ja...	ORPHA:509
King-Denborough Syndrome	Bilateral cryptorchidism, Cryptorchidism, Ventricular septal defect	OMIM:619542
Tetraamelia-Multiple Malformations Syndrome	Cryptorchidism, Multicystic kidney dysplasia	ORPHA:3301
Desbuquois Syndrome	Ventricular septal defect	ORPHA:1425
Familial Adenomatous Polyposis	Cholangiocarcinoma, Pancreatic adenocarcinoma, Goiter, Pituitary adenoma, Neoplasm of the gallbla...	ORPHA:733
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect	OMIM:214300
Congenital Rubella Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:290
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadia...	ORPHA:373
Hand-Foot-Genital Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Hypospadias, Abnormality of the ur...	ORPHA:2438
Emanuel Syndrome	Ventricular septal defect, Truncus arteriosus, Unilateral renal agenesis, Cryptorchidism, Renal h...	ORPHA:96170
Brachydactyly, Type B1	Micropenis, Ventricular septal defect	OMIM:113000
Spondyloenchondrodysplasia	Proteinuria, Decreased response to growth hormone stimulation test, Chronic kidney disease, Hepat...	ORPHA:1855
Diamond-Blackfan Anemia	Lethargy, Renal agenesis, Hypospadias, Horseshoe kidney	ORPHA:124
Peters-Plus Syndrome	Ureteral duplication, Hypospadias, Bilobate gallbladder, Feeding difficulties in infancy, Cryptor...	OMIM:261540
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Edema	OMIM:612097
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Feeding...	ORPHA:818
Glutaryl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Chronic kidney disease, Feeding difficulties, Dysphagia	ORPHA:25
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria	OMIM:268315
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hematuria, Overriding aorta, Ventricular septal defect	OMIM:617021
Timothy Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly	OMIM:601005
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abnormal urinary color, Renal neoplasm, Abdominal pain, Hematuria, M...	ORPHA:538
Coffin-Siris Syndrome 7	Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve	OMIM:618027
Jacobsen Syndrome	Multicystic kidney dysplasia, Intestinal malrotation, Feeding difficulties in infancy, Cryptorchi...	ORPHA:2308
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb...	OMIM:614748
Roifman Syndrome	Noncompaction cardiomyopathy, Ventricular septal defect	OMIM:616651
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Secundum atrial septal defect, Atrial septal defect, Perimembranous ventricular septal defect, Ve...	OMIM:600987
Fanconi Anemia	Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Spina bifida, ...	ORPHA:84
Mowat-Wilson Syndrome	Hypospadias, Abnormality of the kidney, Supernumerary nipple, Aganglionic megacolon, Abdominal di...	OMIM:235730
Chromosome 6Pter-P24 Deletion Syndrome	Ventricular septal defect, Atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Patent fo...	OMIM:612582
Congenital Gerbode Defect	Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu...	ORPHA:99095
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial septal defect, Overriding aorta, Ventricular septal defect, Hydrocele testis	OMIM:601927
Holt-Oram Syndrome	Ventricular septal defect, Anomalous pulmonary venous return, Hypoplastic left heart, Atrial sept...	ORPHA:392
Severe X-Linked Intellectual Disability, Gustavson Type	Vesicoureteral reflux, Ventricular septal defect	ORPHA:3078
Neurofibroma	Enlargement of parotid gland, Intestinal bleeding, Abnormal biliary tract morphology	ORPHA:252183
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Cerebrocostomandibular Syndrome	Anal stenosis, Cleft soft palate, Ectopic kidney, Horseshoe kidney, Renal cyst, Anteriorly placed...	OMIM:117650
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:617729
Neurodevelopmental Disorder With Language Delay And Seizures	Cryptorchidism, Ventricular septal defect	OMIM:619908
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s...	ORPHA:79500
Woods Syndrome	Ventricular septal defect	OMIM:615236
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal pulmonary ...	ORPHA:1507
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Abnormal tricuspid valve morphology	ORPHA:3405
Atelosteogenesis Type Ii	Cleft palate, Bilateral cleft palate, Protuberant abdomen	ORPHA:56304
Primary Sjögren Syndrome	Renal insufficiency, Chronic active hepatitis, Abnormality of the kidney, Glomerulonephritis, Bil...	ORPHA:289390
Diamond-Blackfan Anemia 7	Ventricular septal defect, Secundum atrial septal defect, Horseshoe kidney, Vesicoureteral reflux...	OMIM:612562
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Cryptorchidism, Subvalvular aortic stenosis, Atrial septal defect, Pel...	OMIM:613001
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Ventricular septal defect, Ectopic kidney, Pericardial effusion, Cr...	OMIM:235510
Au-Kline Syndrome	Supernumerary nipple, Cryptorchidism, Chronic kidney disease, Dilatation of the renal pelvis, Fee...	OMIM:616580
Pelger-Huet Anomaly	Umbilical hernia, Ventricular septal defect	OMIM:169400
Codas Syndrome	Hydroureter, Ventricular septal defect	ORPHA:1458
Bardet-Biedl Syndrome 1	Decreased testicular size, Abnormality of the kidney, Biliary tract abnormality, Hepatic fibrosis...	OMIM:209900
Kury-Isidor Syndrome	Ventricular septal defect, Hydronephrosis	OMIM:619762
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Atrial septal defect, Umbilical hernia, Ventricular septal defect	OMIM:619769
Duane-Radial Ray Syndrome	Renal malrotation, Ventricular septal defect, Renal agenesis, Vesicoureteral reflux, Renal hypopl...	OMIM:607323
Cooper-Jabs Syndrome	Umbilical hernia, Ventricular septal defect	ORPHA:1488
X-Linked Lissencephaly With Abnormal Genitalia	Cryptorchidism, Hypoplasia of penis, Ventricular septal defect	ORPHA:452
Agel Amyloidosis	Abnormal spleen morphology, Proteinuria, Stage 5 chronic kidney disease, Depression	ORPHA:85448
Skraban-Deardorff Syndrome	Ventricular septal defect	OMIM:617616
Chromosome 18Q Deletion Syndrome	Absence of the pulmonary valve, Ventricular septal defect, Hypospadias, Cryptorchidism, Micropeni...	OMIM:601808
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Atrial septal defect, Cryptorchidism, Ventricular septal defect	OMIM:617452
Donnai-Barrow Syndrome	Non-acidotic proximal tubulopathy, Umbilical hernia, Ventricular septal defect, Proteinuria	OMIM:222448
Arboleda-Tham Syndrome	Recurrent urinary tract infections, Bilateral cryptorchidism, Feeding difficulties, Gastroesophag...	OMIM:616268
Diamond-Blackfan Anemia 5	Ventricular septal defect, Hypospadias	OMIM:612528
Robinow Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Abnormal heart morphology, Coarctation o...	ORPHA:97360
Cranioectodermal Dysplasia 3	Stage 5 chronic kidney disease, Cirrhosis, Nephronophthisis	OMIM:614099
Limb Body Wall Complex	Ventricular septal defect, Abnormality of the kidney, Abnormal heart morphology, Atrial septal de...	ORPHA:2369
Intellectual Developmental Disorder, Autosomal Dominant 47	Cryptorchidism, Ventricular septal defect	OMIM:617635
Lambotte Syndrome	Ventricular septal defect	OMIM:245552
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Chronic constipation, Pr...	OMIM:256040
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Renal insufficiency, Anorexia, Abdominal pain	ORPHA:79430
Pyomyositis	Renal insufficiency, Testicular teratoma	ORPHA:764
Degcags Syndrome	Hepatomegaly, Recurrent urinary tract infections, Hypospadias, Bilateral renal dysplasia, Oral-ph...	OMIM:619488
Scorpion Envenomation	Acute pancreatitis, Increased circulating NT-proBNP concentration, Ketonuria, Elevated circulatin...	ORPHA:466677
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Renal insufficiency, Glomerulonephritis, Hypersplenism, Splenomegaly, Hepatitis, Co...	ORPHA:3261
Pontocerebellar Hypoplasia, Type 8	Ventricular septal defect, Patent foramen ovale	OMIM:614961
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Ventricular septal defect	ORPHA:1455
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Nephrolithiasis	ORPHA:369929
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Atrial septal defect, Cryptorchidism, Ventricular septal defect, Hydronephrosis	ORPHA:457193
Methimazole Embryofetopathy	Ventricular septal defect, Hypospadias	ORPHA:1923
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Atrial septal defect, Cryptorchidism, Ventricular septal defect	ORPHA:505237
Opitz Gbbb Syndrome	Ventricular septal defect, Hypospadias, Rectourethral fistula, Cryptorchidism, Congenital posteri...	OMIM:300000
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect	OMIM:609654
Leigh Syndrome	Ventricular septal defect, Lacticaciduria, Methylmalonic aciduria, Generalized aminoaciduria, Ren...	ORPHA:506
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Cryptorchidism, Hypertrophic cardiomyopathy, Umbilical hernia, Ventricular septal defect	OMIM:612938
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Feeding difficulties, N...	OMIM:609049
Behçet Disease	Nausea and vomiting, Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Anorexia, ...	ORPHA:117
19P13.3 Microduplication Syndrome	Unilateral cryptorchidism, Ventricular septal defect	ORPHA:447980
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Vesicoureteral reflux, Abnormal...	ORPHA:453499
19P13.12 Microdeletion Syndrome	Atrial septal defect, Cryptorchidism, Ventricular septal defect, Hypospadias	ORPHA:254346
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Atrial septal defect, Cryptorchidism, Ventricular septal defect	OMIM:301039
Williams-Beuren Syndrome	Recurrent urinary tract infections, Renal insufficiency, Hypercalcemia, Portal hypertension, Feed...	OMIM:194050
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Coronary artery fistula, Ne...	OMIM:620024
Coccidioidomycosis	Renal insufficiency, Abnormality of the kidney, Abnormality of the spleen, Peritonitis, Abnormali...	ORPHA:228123
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Cryptorchidism, Micropenis, Ventricular septal defect	OMIM:620073
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:618870
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Coarctation of aorta, Abnormal aortic morphology, Subvalvular aorti...	ORPHA:1052
Short Stature-Micrognathia Syndrome	Cryptorchidism, Micropenis, Ventricular septal defect, Penoscrotal hypospadias	OMIM:617164
Dyggve-Melchior-Clausen Disease	Protuberant abdomen	ORPHA:239
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Cryptorchidism, Micropenis, Ventricular septal defect	ORPHA:2519
Cerebrocostomandibular Syndrome	Death in infancy, Multicystic kidney dysplasia	ORPHA:1393
Sotos Syndrome	Ventricular septal defect, Abnormality of the kidney, Cryptorchidism, Muscular ventricular septal...	OMIM:117550
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hepatomegaly, Cryptorchidism, Feeding difficulties, Hepatosplenomegaly, Hypoplastic nipples, Prot...	ORPHA:96334
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Cryptorchidism, Ventricular septal defect, Abnormal heart morphology	ORPHA:404440
Lmna-Related Cardiocutaneous Progeria Syndrome	Abnormal intrahepatic bile duct morphology, Papillary renal cell carcinoma	ORPHA:363618
Relapsing Polychondritis	Glomerulopathy, Renal insufficiency, Proteinuria, Hepatitis, Hematuria	ORPHA:728
Pontocerebellar Hypoplasia, Type 17	Secundum atrial septal defect, Ventricular septal defect	OMIM:619909
Kapur-Toriello Syndrome	Ventricular septal defect, Cryptorchidism, Abnormality of the urinary system, Atrial septal defec...	OMIM:244300
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Cryptorchidism, Hypoplasia of penis, Ventricular septal defect, Hypospadias	ORPHA:77298
Spondylo-Ocular Syndrome	Ventricular septal defect	ORPHA:85194
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis, Breast aplasia	OMIM:181270
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Costello Syndrome	Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic...	ORPHA:3071
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Ventricular septal defect, Hydronephrosis, Hypospadias	OMIM:616449
Acrocardiofacial Syndrome	Hypoplasia of penis, Ventricular septal defect, Mitral stenosis, Hypospadias, Cryptorchidism, Atr...	ORPHA:2008
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormal pulmonary valve morphology, Abnor...	ORPHA:857
Koolen-De Vries Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Bicuspid aortic valve, Cryptorchid...	OMIM:610443
15Q14 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261190
Myopathy With Extrapyramidal Signs	Ventricular septal defect	OMIM:615673
Cutis Marmorata Telangiectatica Congenita	Multicystic kidney dysplasia, Patent ductus arteriosus, Arterial stenosis, Arteriovenous malforma...	ORPHA:1556
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Ventricular septal defect, Hypospadias, Renal agenesis, Cryptorchidism, Perimembranous ventricula...	OMIM:301040
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Fanconi Anemia, Complementation Group N	Nephroblastoma, Ventricular septal defect	OMIM:610832
Transaldolase Deficiency	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:606003
Hydranencephaly	Lethargy, Atrophic pituitary gland	ORPHA:2177
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Atrial septal defect, Ventricular septal defect	OMIM:617061
Chromosome 9P Deletion Syndrome	Ventricular septal defect, Hypospadias, Perimembranous ventricular septal defect, Atrial septal d...	OMIM:158170
Lateral Meningocele Syndrome	Neurogenic bladder, Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Meningocele...	OMIM:130720
Kapur-Toriello Syndrome	Hypoplasia of penis, Tetralogy of Fallot, Ventricular septal defect	ORPHA:2328
Phaver Syndrome	Myelomeningocele, Ventricular septal defect	ORPHA:2876
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Ventricular septal defect	OMIM:603387
Weill-Marchesani Syndrome 2	Narrow palate, High palate, Protuberant abdomen	OMIM:608328
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Atrial septal defect, Spina bifida occulta, Ventricular septal defect	OMIM:617360
Hajdu-Cheney Syndrome	Splenomegaly, Hepatomegaly, Multiple renal cysts, Hypospadias	ORPHA:955
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia, Anal stenosis, Intestinal malrotation, Cleft palate, High palate, G...	OMIM:300373
Chops Syndrome	Ventricular septal defect, Cryptorchidism, Anomalous pulmonary venous return, Horseshoe kidney, V...	OMIM:616368
3P25.3 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	ORPHA:435638
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect...	ORPHA:457279
19Q13.11 Microdeletion Syndrome	Cryptorchidism, Ventricular septal defect, Hypospadias	ORPHA:217346
Cockayne Syndrome B	Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Cryptorchidism, Micropenis	OMIM:133540
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect	OMIM:126320
Cockayne Syndrome A	Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Cryptorchidism, Micropenis	OMIM:216400
Insulin-Like Growth Factor I, Resistance To	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:270450
Filippi Syndrome	Cryptorchidism, Ventricular septal defect	ORPHA:3255
African Trypanosomiasis	Hepatomegaly, Renal insufficiency, Urinary incontinence, Splenomegaly, Diarrhea, Jaundice, Hepato...	ORPHA:3385
Brain-Lung-Thyroid Syndrome	Ventricular septal defect, Hypospadias, Megacystis, Vesicoureteral reflux, Abnormal cardiac septu...	ORPHA:209905
Radio-Tartaglia Syndrome	Ventricular septal defect	OMIM:619312
Keutel Syndrome	Ventricular septal defect	ORPHA:85202
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Ventricular septal defect, Hypospadias, Bilateral cryptorchidism, Cryptorchidism, Atrial septal d...	OMIM:300998
Blomstrand Lethal Chondrodysplasia	Protuberant abdomen, Protruding tongue	ORPHA:50945
Pmm2-Cdg	Elevated hepatic transaminase, Proteinuria, Elevated circulating growth hormone concentration, Fe...	ORPHA:79318
Arteriosclerosis, Severe Juvenile	Chronic kidney disease	OMIM:208060
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Cryptorchidism, Hypospadias, Gastroesophageal reflux, Renal cyst	ORPHA:495875
Aase-Smith Syndrome I	Ventricular septal defect	OMIM:147800
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect	OMIM:618325
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Pulmonic steno...	OMIM:616564
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Spina bifida, Hypospadias, ...	ORPHA:508498
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Kagami-Ogata Syndrome	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:608149
Seckel Syndrome 9	Atrial septal defect, Recurrent urinary tract infections, Ventricular septal defect	OMIM:616777
Recombinant 8 Syndrome	Ventricular septal defect, Abnormality of the kidney, Cryptorchidism, Atrial septal defect, Tetra...	ORPHA:96167
Teebi Hypertelorism Syndrome 1	Atrial septal defect, Ventricular septal defect, Hydrocele testis	OMIM:145420
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p...	ORPHA:3427
Hydrolethalus Syndrome 1	Complete atrioventricular canal defect, Ventricular septal defect, Hydronephrosis, Hypospadias	OMIM:236680
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Ventricular septal defect	OMIM:617895
Contractural Arachnodactyly, Congenital	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Mitral valve prolapse	OMIM:121050
Noonan Syndrome 2	Mitral stenosis, Ventricular septal defect, Cryptorchidism, Cardiomyopathy, Hypertrophic cardiomy...	OMIM:605275
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Hydroureter, Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Pulmonic stenosis,...	OMIM:610759
Lateral Meningocele Syndrome	Cryptorchidism, Meningocele, Umbilical hernia, Ventricular septal defect	ORPHA:2789
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Micropenis, Ventricular septal defect, Hypospadias	OMIM:106260
Intellectual Developmental Disorder, Autosomal Dominant 53	Cryptorchidism, Micropenis, Ventricular septal defect, Hydronephrosis	OMIM:617798
Char Syndrome	Ventricular septal defect	ORPHA:46627
Congenital Heart Defects And Skeletal Malformations Syndrome	Atrial septal defect, Cryptorchidism, Ventricular septal defect, Hypospadias	OMIM:617602
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Decreased testicular size, Multicystic kidney dysplasia, Elevated circulating creatine kinase con...	OMIM:615287
Bohring-Opitz Syndrome	Atrial septal defect, Ventricular septal defect, Vesicoureteral reflux	OMIM:605039
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Renal agenesis, Ventricular septal defect, Hypospadias	OMIM:611812
Opitz Gbbb Syndrome	Ventricular septal defect, Hypospadias, Cryptorchidism, Vesicoureteral reflux, Abnormal heart mor...	ORPHA:2745
Pyknoachondrogenesis	Abdominal distention	ORPHA:3003
Warsaw Breakage Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:613398
Fanconi Anemia, Complementation Group B	Micropenis, Renal agenesis, Ventricular septal defect	OMIM:300514
Spondylocarpotarsal Synostosis Syndrome	Renal cyst	OMIM:272460
C Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Horseshoe kidney, Cleft p...	ORPHA:1308
Gm1 Gangliosidosis	Cardiomyopathy, Ventricular septal defect, Abnormal heart morphology	ORPHA:354
Distal Deletion 19P	Umbilical hernia, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse	ORPHA:96129
Pineoblastoma	Lethargy, Pinealoma	ORPHA:251909
Sotos Syndrome	Ureteral duplication, Renal insufficiency, Hypospadias, Hypercalcemia, Abnormality of the kidney,...	ORPHA:821
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Renal agenesis, Ventricular septal defect, Ectopic kidney, Cryptorc...	OMIM:227645
Chromosome 14Q11-Q22 Deletion Syndrome	Ventricular septal defect, Unilateral cryptorchidism, Bilateral cryptorchidism, Cryptorchidism, R...	OMIM:613457
Townes-Brocks Syndrome 1	Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hypospadias, Urethr...	OMIM:107480
Laubry-Pezzi Syndrome	Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu...	ORPHA:99094
Trisomy 18	Ventricular septal defect, Spina bifida, Abnormality of the upper urinary tract, Cryptorchidism, ...	ORPHA:3380
Heart And Brain Malformation Syndrome	Ventricular septal defect	OMIM:616920
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Atrial septal defect, Macroorchidism, Ventricular septal defect	OMIM:309520
Chromosome 1Q41-Q42 Deletion Syndrome	Cryptorchidism, Ventricular septal defect	OMIM:612530
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atrial septal defect, Ventricular septal defect	OMIM:610978
Mosaic Trisomy 16	Ventricular septal defect, Hypospadias, Large placenta, Horseshoe kidney, Abnormal heart morpholo...	ORPHA:1708
Orofaciodigital Syndrome V	Unilateral cryptorchidism, Tetralogy of Fallot, Ventricular septal defect, Horseshoe kidney	OMIM:174300
Teebi-Shaltout Syndrome	Ureteral stenosis, Ventricular septal defect, Horseshoe kidney, Aortic valve stenosis, Hydronephr...	OMIM:272950
Congenital Disorder Of Glycosylation, Type It	Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis, Cardiomegaly	OMIM:614921
Diamond-Blackfan Anemia 10	Renal duplication, Ventricular septal defect, Ectopic kidney	OMIM:613309
Cornelia De Lange Syndrome	Multicystic kidney dysplasia, Hypoplasia of penis, Hypospadias, Renal insufficiency, Feeding diff...	ORPHA:199
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Cryptorchidism, Micropenis, Ventricular septal defect, Decreased testicular size	ORPHA:251028
Tetraamelia Syndrome 2	Micropenis, Ventricular septal defect	OMIM:618021
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Robinow Syndrome, Autosomal Dominant 3	Ventricular septal defect, Hypoplastic right heart, Cryptorchidism, Vesicoureteral reflux, Microp...	OMIM:616894
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect	OMIM:610338
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Protuberant abdomen	OMIM:618019
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Ventricular septal defect	OMIM:610536
Noonan Syndrome 3	Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Pulmonic stenosis, Tricuspid va...	OMIM:609942
Ritscher-Schinzel Syndrome 2	Atrial septal defect, Cryptorchidism, Ventricular septal defect	OMIM:300963
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Patent...	ORPHA:709
Costello Syndrome	Renal insufficiency, Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Atrial ...	OMIM:218040
Distal 22Q11.2 Microdeletion Syndrome	Branchial fistula, Recurrent urinary tract infections, Ventricular septal defect, Atrial septal d...	ORPHA:261330
7Q11.23 Microduplication Syndrome	Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Enuresis, Atri...	ORPHA:96121
16Q24.3 Microdeletion Syndrome	Cryptorchidism, Dilated cardiomyopathy, Ventricular septal defect	ORPHA:261250
Dysosteosclerosis	Ventricular septal defect	ORPHA:1782
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ventricular septal defect, Patent foramen ovale	OMIM:620113
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Spina bifid...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Spina bifid...	ORPHA:363958
X Small Rings	Ventricular septal defect, Mitral stenosis, Fetal pyelectasis, Bicuspid aortic valve	ORPHA:96201
Den Hoed-De Boer-Voisin Syndrome	Recurrent urinary tract infections, Ventricular septal defect	OMIM:619229
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Death in infancy, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal age...	OMIM:308205
Holoprosencephaly	Encephalocele, Hypoplasia of penis, Ventricular septal defect, Abnormal pulmonary valve morpholog...	ORPHA:2162
16P13.11 Microdeletion Syndrome	Atrial septal defect, Cryptorchidism, Ventricular septal defect	ORPHA:261236
Mosaic Variegated Aneuploidy Syndrome 2	Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis	OMIM:614114
Cerebellar-Facial-Dental Syndrome	Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Ureteropelvic junction obstruct...	ORPHA:444072
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect	OMIM:234050
Fraser Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Anal stenosis, Cryptorchidism, Re...	ORPHA:2052
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Bilateral cryptorchidism, Ventricular septal defect	OMIM:300472
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly	OMIM:617022
Genitopatellar Syndrome	Multicystic kidney dysplasia, Anal stenosis, Cryptorchidism, Malrotation of small bowel, Feeding ...	OMIM:606170
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Ventricular septal defect	ORPHA:52055
Mosaic Trisomy 20	Ventricular septal defect, Abnormality of the kidney, Cryptorchidism, Dysplastic tricuspid valve,...	ORPHA:1724
Histiocytosis-Lymphadenopathy Plus Syndrome	Ventricular septal defect, Cardiomegaly, Mitral valve prolapse, Azoospermia, Pulmonic stenosis, A...	OMIM:602782
Ulnar-Mammary Syndrome	Cryptorchidism, Hypoplasia of penis, Ventricular septal defect, Renal hypoplasia	ORPHA:3138
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Vesicoureteral reflux, Abnormal...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Vesicoureteral reflux, Abnormal...	ORPHA:352665
Rabson-Mendenhall Syndrome	Ventricular septal defect, Long penis, Nephrocalcinosis, Cardiomyopathy, Atrial septal defect	ORPHA:769
Oculodentodigital Dysplasia	Umbilical hernia, Neurogenic bladder, Ventricular septal defect	ORPHA:2710
Tbck-Related Intellectual Disability Syndrome	Cryptorchidism, Neurogenic bladder, Ventricular septal defect, Pulmonic stenosis	ORPHA:488632
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Long penis, R...	ORPHA:744
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Duplicated collecting system, Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Atria...	OMIM:607721
Branchiooculofacial Syndrome	Hypospadias, Renal agenesis, Supernumerary nipple, Malrotation of colon, Cryptorchidism, Pyloric ...	OMIM:113620
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Hypospadias, Chordee, Atrial septal defect, Micropen...	OMIM:309801
Cohen Syndrome	Cryptorchidism, Ventricular septal defect, Mitral valve prolapse	ORPHA:193
3Mc Syndrome 1	Atrial septal defect, Spina bifida occulta, Ventricular septal defect, Hydronephrosis	OMIM:257920
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Atrial septal defect, Patent forame...	OMIM:617506
Goldberg-Shprintzen Syndrome	Vesicoureteral reflux, Ventricular septal defect	OMIM:609460
Congenital Disorder Of Glycosylation, Type Iia	Ventricular septal defect	OMIM:212066
Adams-Oliver Syndrome 1	Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Hypoplastic left heart, Pulmonic...	OMIM:100300
Cerebellofaciodental Syndrome	Cryptorchidism, Ventricular septal defect, Mitral valve prolapse	OMIM:616202
Coffin-Siris Syndrome	Ventricular septal defect, Hypospadias, Cryptorchidism, Horseshoe kidney, Abnormal heart morpholo...	ORPHA:1465
Alström Syndrome	Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali...	ORPHA:64
Mowat-Wilson Syndrome	Urinary incontinence, Asplenia, Cleft hard palate, Gastrointestinal dysmotility, Vomiting, Vesico...	ORPHA:2152
Trichothiodystrophy	Cardiomyopathy, Umbilical hernia, Ventricular septal defect, Cryptorchidism	ORPHA:33364
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias...	ORPHA:353281
Brachytelephalangic Chondrodysplasia Punctata	Atrial septal defect, Ventricular septal defect	ORPHA:79345
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Ventricular septal defect, Renal agenesis, Ectopic kidney, Patent d...	OMIM:164210
De Barsy Syndrome	Cryptorchidism, Umbilical hernia, Ventricular septal defect	ORPHA:2962
Velocardiofacial Syndrome	Cryptorchidism, Tetralogy of Fallot, Ventricular septal defect, Umbilical hernia	OMIM:192430
Apert Syndrome	Cryptorchidism, Overriding aorta, Ventricular septal defect, Hydronephrosis	OMIM:101200
Loeys-Dietz Syndrome 5	Atrial septal defect, Ventricular septal defect, Patent foramen ovale	OMIM:615582
2Q31.1 Microdeletion Syndrome	Atrial septal defect, Cryptorchidism, Ventricular septal defect	ORPHA:251014
Blau Syndrome	Clear cell renal cell carcinoma, Splenomegaly, Stage 5 chronic kidney disease, Abnormality of the...	ORPHA:90340
Codas Syndrome	Atrial septal defect, Cryptorchidism, Atrioventricular canal defect, Ventricular septal defect	OMIM:600373
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Recurrent urinary tract infections, Ventricular septal defect, Abnormal pulmonary valve morpholog...	ORPHA:268261
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ventricular septal defect	OMIM:243150
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Asplenia, Cleft hard palate, Vesicoureteral reflux, Webbed penis, Micropeni...	ORPHA:261537
Holt-Oram Syndrome	Secundum atrial septal defect, Ventricular septal defect, Hypoplastic left heart	OMIM:142900
Weill-Marchesani Syndrome 1	Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis	OMIM:277600
Marshall-Smith Syndrome	Ventricular septal defect, Bilateral cryptorchidism, Cryptorchidism, Atrial septal defect, Umbili...	OMIM:602535
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Muscular ventricular septal defect, Dysplastic tricuspid valve, Vesico...	OMIM:157800
3Q29 Microduplication Syndrome	Ventricular septal defect	ORPHA:251038
Okamoto Syndrome	Ureteropelvic junction obstruction, Ventricular septal defect, Urinary incontinence, Abnormal lef...	ORPHA:2729
Van Esch-O'Driscoll Syndrome	Atrial septal defect, Spina bifida occulta, Pulmonary valve atresia, Ventricular septal defect	OMIM:301030
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Ectopic kidney	ORPHA:268249
Jacobsen Syndrome	Atrial septal defect, Cryptorchidism, Ventricular septal defect, Hypospadias	OMIM:147791
Kaufman Oculocerebrofacial Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:244450
Specc1L-Related Hypertelorism Syndrome	Ventricular septal defect, Ectopic kidney, Cryptorchidism, Atrial septal defect, Umbilical hernia...	ORPHA:1519
Mgat2-Cdg	Ventricular septal defect, Abnormal heart morphology	ORPHA:79329
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Ventricular septal defect, Urinary incontinence, Hypospadias, Renal agenesis,...	OMIM:619522
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Ventricular septal defect	OMIM:178110
Early Infantile Epileptic Encephalopathy	Ventricular septal defect, Ureterocele, Umbilical hernia, Micropenis, Renal dysplasia	ORPHA:1934
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Renal tubular acidosis, Ventricular septal defect	OMIM:619575
Distal 22Q11.2 Microduplication Syndrome	Branchial fistula, Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Tricuspi...	ORPHA:261337
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Urinary incontinence, Vesicoureteral reflux, Webbed penis, Micropenis, Pel...	ORPHA:261552
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal renal morphology, Abnormal heart mo...	ORPHA:363700
Pallister-Killian Syndrome	Anal stenosis, Hypospadias, Intestinal malrotation, Supernumerary nipple, Cryptorchidism, Renal c...	OMIM:601803
Rubinstein-Taybi Syndrome 1	Ventricular septal defect, Hypospadias, Spina bifida, Bilateral cryptorchidism, Cryptorchidism, M...	OMIM:180849
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal defect, Ventricular septal hypertrophy	OMIM:614947
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Cryptorchidism, Hypoplastic left heart, Tetralogy of Fallot, Patent fo...	OMIM:618748
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch...	OMIM:300967
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias...	ORPHA:353277
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Hypospadias, Horseshoe kidney, Abnormal heart morphology, Vesicoureter...	ORPHA:444077
Larsen Syndrome	Atrial septal defect, Cryptorchidism, Spina bifida occulta, Ventricular septal defect	OMIM:150250
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Cryptorchidism, Umbilical hernia, Micropenis, Patent foramen ovale	OMIM:613884
Esophageal Atresia	Renal agenesis, Abnormality of the urinary system, Tetralogy of Fallot, Ventricular septal defect	ORPHA:1199
Microphthalmia, Syndromic 3	Cryptorchidism, Micropenis, Ventricular septal defect, Hypospadias	OMIM:206900
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ventricular septal defect	OMIM:615503
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Vesicoureteral reflux, Nephroli...	ORPHA:438213
Diamond-Blackfan Anemia 1	Ventricular septal defect, Tricuspid stenosis, Renal hypoplasia, Atrial septal defect, Spina bifi...	OMIM:105650
Lymphedema-Distichiasis Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:153400
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Ventricular septal defect	OMIM:619306
Paternal Uniparental Disomy Of Chromosome 6	Cryptorchidism, Umbilical hernia, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Ventricular septal defect, Bilateral cryptorchidism, Cryptorchidism, Abnormal left ventricle morp...	ORPHA:466791
Coffin-Siris Syndrome 4	Atrial septal defect, Ventricular septal defect, Mitral atresia, Pulmonic stenosis	OMIM:614609
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Ventricular septal defect	OMIM:614653
Yunis-Varon Syndrome	Ventricular septal defect, Hypospadias, Cardiomegaly, Cryptorchidism, Renovascular hypertension, ...	ORPHA:3472
Coffin-Siris Syndrome 1	Hydroureter, Ventricular septal defect, Hypospadias, Ectopic kidney, Cryptorchidism, Tetralogy of...	OMIM:135900
Hereditary Sensory And Autonomic Neuropathy Type 4	Aplasia of the sweat glands, Chronic kidney disease, Feeding difficulties, Dysphagia	ORPHA:642
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Cryptorchidism, Atrial septal defect, Aortic val...	OMIM:139210
Acrofacial Dysostosis 1, Nager Type	Tetralogy of Fallot, Ventricular septal defect, Unilateral renal agenesis	OMIM:154400
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Hematuria, Micropenis	OMIM:619475
Congenital Tracheal Stenosis	Ventricular septal defect, Abnormality of the ureter, Hypoplastic left heart, Abnormality of the ...	ORPHA:141127
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Hypospadias, Coronary sinus enlargement, Atrial septal defect, Patent ...	OMIM:619268
Chromosome 16P13.3 Duplication Syndrome	Atrial septal defect, Cryptorchidism, Tetralogy of Fallot, Ventricular septal defect	OMIM:613458
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Ventricular septal defect, Hypospadias, Cryptorchidism, Dilatation of the ventricular cavity, Atr...	ORPHA:459070
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Ventricular septal defect, Epispadias, Cryptorchidism, Unilateral renal ...	OMIM:615948
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Ecto...	OMIM:607872
Phace Association	Ventricular septal defect	OMIM:606519
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve	OMIM:271640
Omodysplasia 1	Atrial septal defect, Cryptorchidism, Umbilical hernia, Ventricular septal defect	OMIM:258315
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Ventricular septal defect, Mitral stenosis, Tricuspid stenosis, Pulmonic...	OMIM:143095
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Ventricular septal defect	OMIM:619418
Pallister-Hall Syndrome	Renal dysplasia, Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Ectopic kidne...	ORPHA:672
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Atrial septal defect, Cryptorchidism, Atrioventricular canal defect, Ventricular septal defect	ORPHA:3047
Feingold Syndrome 1	Ventricular septal defect, Tricuspid atresia, Tricuspid stenosis	OMIM:164280
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Cryptorchidism, Ventricular septal defect, Proteinuria	OMIM:616682
Kabuki Syndrome 1	Ureteropelvic junction obstruction, Crossed fused renal ectopia, Ventricular septal defect, Crypt...	OMIM:147920
Noonan Syndrome 1	Ventricular septal defect, Hypospadias, Cryptorchidism, Pulmonic stenosis, Atrial septal defect, ...	OMIM:163950
Proboscis Lateralis	Ureteral agenesis, Duplication of renal pelvis, Ventricular septal defect, Unilateral renal agenesis	ORPHA:141099
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect	OMIM:301044
Cutis Laxa, Autosomal Dominant 1	Ventricular septal defect	OMIM:123700
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal defect, Ventricular septal hypertrophy	OMIM:608670
Diaphragmatic Hernia 4, With Cardiovascular Defects	Cryptorchidism, Ventricular septal defect, Aortopulmonary window	OMIM:620025
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Ventricular septal defect	ORPHA:1071
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Umbilical hernia, Ventricular septal defect, Hydronephrosis	OMIM:620330
Wolf-Hirschhorn Syndrome	Atrial septal defect, Cryptorchidism, Ventricular septal defect, Hypospadias	OMIM:194190
Craniotubular Dysplasia, Ikegawa Type	Ventricular septal defect	OMIM:619727
Orofaciodigital Syndrome Type 14	Bilateral cryptorchidism, Epispadias, Ventricular septal defect	ORPHA:434179
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect	OMIM:259770
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Ventricular septal defect	ORPHA:513456
Ulnar-Mammary Syndrome	Micropenis, Ventricular septal defect	OMIM:181450
Keutel Syndrome	Ventricular septal defect, Pulmonic stenosis	OMIM:245150
Yunis-Varon Syndrome	Ventricular septal defect, Hypospadias, Cryptorchidism, Cardiomyopathy, Micropenis, Tetralogy of ...	OMIM:216340

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

X-ray

Gross Morphology Embryo E14.5-E15.5

MicroCT E9.5

Human diseases caused by Bicc1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data