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Gene: Bicc1 MGI:1933388

Gene Summary

Name:

BicC family RNA binding protein 1

Synonyms:

jcpk, Bic-C

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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

Embryo reconstruction

8 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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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 (1566 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		Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal...	OMIM:601331
Autosomal Dominant Polycystic Kidney Disease		Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	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	Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal...	OMIM:601331
Heterotaxy, Visceral, 6, Autosomal	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot...	OMIM:614779
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Hyperechogenic kidneys, Spl...	OMIM:616217
Infundibulopelvic Dysgenesis	Microscopic hematuria, Multicystic kidney dysplasia	OMIM:600989
Polycystic Kidney Disease 7	Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic...	OMIM:620056
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced...	OMIM:617610
Nephronophthisis 13	Nephronophthisis, Glomerular sclerosis, Intrahepatic bile duct dilatation, Mild proteinuria, Glom...	OMIM:614377
Nephronophthisis 16	Situs inversus totalis, Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Hypertrop...	OMIM:615382
Isolated Polycystic Liver Disease	Abdominal distention, Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the pancreas, Gas...	ORPHA:2924
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Nphp3-Related Meckel-Like Syndrome	Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Renal dysplasia, Multicy...	ORPHA:3032
Mirror Movements 3	Situs inversus totalis	OMIM:616059
Hepatorenocardiac Degenerative Fibrosis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Enlarged kidney, Tu...	OMIM:619902
Fallot Complex With Severe Mental And Growth Retardation	Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot	OMIM:601127
Genitopalatocardiac Syndrome	Transposition of the great arteries, Hypospadias, Right aortic arch, Renal cyst, Double outlet ri...	OMIM:231060
Laterality Defects, Autosomal Dominant	Situs inversus totalis, Heterotaxy	OMIM:601086
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Tricuspid Atresia	Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for...	ORPHA:1209
Congenital Pseudoarthrosis Of The Clavicle	Situs inversus totalis, Dextrocardia	ORPHA:66630
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617874
Atrioventricular Septal Defect, Susceptibility To, 2	Right aortic arch with mirror image branching, Atrioventricular canal defect, Pulmonary artery at...	OMIM:606217
Congenital Anomalies Of Kidney And Urinary Tract 3	Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl...	OMIM:618270
Nephronophthisis 20	Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff...	OMIM:617271
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Situs inversus totalis, Dextrocardia	OMIM:618948
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Abdominal distention, Renal cyst, Polycystic liver disease	OMIM:174050
Congenital Pancreatic Cyst	Anorexia, Abdominal distention, Jaundice, Pancreatitis, Abdominal pain, Vomiting	ORPHA:313906
Ciliary Dyskinesia, Primary, 40	Situs inversus totalis, Atrioventricular canal defect, Right aortic arch, Left Isomerism, Congeni...	OMIM:618300
Hanac Syndrome	Hematuria, Multiple renal cysts, Renal insufficiency	ORPHA:73229
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Splenomegaly, Stage 5 c...	OMIM:208540
Campomelia, Cumming Type	Polycystic kidney dysplasia, Pancreatic cysts, Polysplenia, Polycystic liver disease	OMIM:211890
Bardet-Biedl Syndrome 8	Renal dysplasia, Situs inversus totalis, Hypospadias	OMIM:615985
Right Atrial Isomerism	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Pulmonary artery atres...	OMIM:208530
Heterotaxy, Visceral, 8, Autosomal	Congenitally corrected transposition of the great arteries with ventricular septal defect, Dextro...	OMIM:617205
Renal Hypodysplasia/Aplasia 3	Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla...	OMIM:617805
Heterotaxy, Visceral, 7, Autosomal	Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor...	OMIM:616749
Heterotaxy, Visceral, 4, Autosomal	Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar...	OMIM:613751
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transam...	OMIM:602347
Gallbladder Disease 1	Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholangitis, Cho...	OMIM:600803
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Hematuria, Elevated circulating hepatic transaminase concentration, Elevated ci...	OMIM:614817
Aa Amyloidosis	Abnormality of the kidney, Enlarged kidney, Hepatomegaly, Acute kidney injury, Chronic diarrhea, ...	ORPHA:85445
Biliary Atresia, Extrahepatic	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:210500
Inflammatory Pseudotumor Of The Liver	Abdominal distention, Cirrhosis, Abdominal pain, Abnormal liver sonography, Elevated circulating ...	ORPHA:90003
Conotruncal Heart Malformations	Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ...	OMIM:217095
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Heterotaxy, Visceral, 2, Autosomal	Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc...	OMIM:605376
Heterotaxy, Visceral, 12, Autosomal	Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Left Isomerism, ...	OMIM:619702
Wolman Disease	Abdominal distention, Hepatomegaly, Vomiting, Acute hepatic failure, Splenomegaly	OMIM:620151
Congenital Heart Defects, Multiple Types, 6	Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar...	OMIM:613854
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Situs inversus totalis, Dextrocardia, Abdominal situs inversus	OMIM:619607
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Cayler Cardiofacial Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus	OMIM:125520
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Abnormal tubu...	OMIM:602114
Benign Recurrent Intrahepatic Cholestasis	Anorexia, Cholestatic liver disease, Cirrhosis, Jaundice, Pancreatitis, Elevated circulating hepa...	ORPHA:65682
Ciliary Dyskinesia, Primary, 52	Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Patent for...	OMIM:620570
Hyperbiliverdinemia	Decreased liver function, Green urine, Cholestasis, Cholelithiasis	OMIM:614156
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Multicystic kidney dysplasia, Malformati...	OMIM:607361
Atrial Septal Defect 2	Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Patent ductus arteriosus, Atrial ...	OMIM:607941
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu...	OMIM:617912
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Hyperammonemia, Nausea and vomiting, Renal insufficiency, Lethargy	ORPHA:28
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Enlarged kidney, Cholestasis, Biliary hyperplasia, Splenomegaly, Abn...	ORPHA:731
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Gcgr-Related Hyperglucagonemia	Abdominal pain, Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology	ORPHA:438274
Senior-Loken Syndrome 8	Nephronophthisis, Intrahepatic bile duct dilatation, Glomerular subepithelial immune-complex depo...	OMIM:616307
Nephronophthisis-Like Nephropathy 1	Nephronophthisis, Chronic pancreatitis, Tubular basement membrane disintegration, Renal tubular a...	OMIM:613159
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole...	ORPHA:567983
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Bile Acid Synthesis Defect, Congenital, 3	Steatorrhea, Intrahepatic cholestasis, Jaundice, Cirrhosis, Hepatomegaly, Diarrhea, Acholic stool...	OMIM:613812
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Chronic diarrhea, Enlarged kidney, Hepatomegaly, Splenomegaly	OMIM:615285
Ciliary Dyskinesia, Primary, 36, X-Linked	Situs inversus totalis	OMIM:300991
Congenital Bile Acid Synthesis Defect Type 3	Cirrhosis, Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Bi...	ORPHA:79302
Ciliary Dyskinesia, Primary, 3	Situs inversus totalis	OMIM:608644
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Unilateral renal agenesis, Anomalous origin of left coronary artery from the pulmonary artery, Bi...	OMIM:618845
Trehalase Deficiency	Abdominal distention, Diarrhea, Abdominal pain, Vomiting, Malabsorption	ORPHA:103909
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Abdominal distention, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	ORPHA:369
Hyperlysinuria With Hyperammonemia	Hyperlysinemia, Hyperammonemia, Dibasicaminoaciduria, Malabsorption, Hyperlysinuria, Lethargy	OMIM:238750
Mirizzi Syndrome	Anorexia, Abdominal distention, Jaundice, Pancreatitis, Elevated circulating hepatic transaminase...	ORPHA:521219
Ciliary Dyskinesia, Primary, 37	Situs inversus totalis, Right aortic arch, Dextrocardia	OMIM:617577
Ketamine-Induced Biliary Dilatation	Abdominal pain, Abnormal biliary tract morphology, Dysuria	ORPHA:293807
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Situs inversus totalis, Dextrocardia, Recurrent urinary tract infections, Polycystic kidney dyspl...	OMIM:613095
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Situs inversus totalis	OMIM:620032
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ...	OMIM:613496
Ciliary Dyskinesia, Primary, 17	Situs inversus totalis, Dextrocardia	OMIM:614679
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re...	OMIM:604387
16P13.11 Microduplication Syndrome	Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def...	ORPHA:261243
Meckel Syndrome, Type 7	Multiple glomerular cysts, Cholestasis, Biliary cirrhosis, Portal hypertension, Bile duct prolife...	OMIM:267010
Ciliary Dyskinesia, Primary, 7	Situs inversus totalis, Dextrocardia	OMIM:611884
Hyperparathyroidism 2 With Jaw Tumors	Parathyroid carcinoma, Renal cortical adenoma, Polycystic kidney dysplasia, Recurrent pancreatiti...	OMIM:145001
Ventricular Septal Defect 1	Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent...	OMIM:614429
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Nephronophthisis 2	Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Situs inversus totalis, ...	OMIM:602088
Nephronophthisis 9	Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts, Nephronophthisis	OMIM:613824
Hereditary Renal Hypouricemia	Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration...	ORPHA:94088
Ciliary Dyskinesia, Primary, 29	Situs inversus totalis	OMIM:615872
Peroxisome Biogenesis Disorder 6A (Zellweger)	Decreased liver function, Hepatomegaly, Feeding difficulties in infancy, Renal cyst	OMIM:614870
Combined Oxidative Phosphorylation Deficiency 52	Anorexia, Pancreatitis, Hyperamylasemia, Hyperalaninemia, Elevated circulating creatine kinase co...	OMIM:619386
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic...	OMIM:618061
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Polycystic kidney dysplasia, Renal angiomyolipoma	OMIM:600273
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Decreased liver function, Polycystic kidney dysplasia, Hepatic cysts	OMIM:600666
Branchiootorenal Syndrome 2	Renal dysplasia, Renal insufficiency	OMIM:610896
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Glomerulopathy With Fibronectin Deposits 2	Glomerular fibronectin deposits, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Glomerul...	OMIM:601894
Chronic Diarrhea Due To Glucoamylase Deficiency	Abdominal distention, Dyspepsia, Abnormal small intestinal mucosa morphology, Chronic diarrhea, A...	ORPHA:103907
Campomelia, Cumming Type	Hepatomegaly, Multicystic kidney dysplasia, Death in infancy, Multiple renal cysts, Pancreatic cy...	ORPHA:1318
Lethal Infantile Mitochondrial Myopathy	Renal insufficiency, Lethargy, Fatal liver failure in infancy	ORPHA:254857
Ciliary Dyskinesia, Primary, 38	Situs inversus totalis, Dextrocardia	OMIM:618063
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration, Microscopic hematuria, Nephritis, Proteinuria, Sta...	OMIM:161900
Protoporphyria, Erythropoietic, X-Linked	Elevated circulating hepatic transaminase concentration, Cholelithiasis	OMIM:300752
Primary Effusion Lymphoma	Abnormal peritoneum morphology, Abdominal distention, Abdominal pain	ORPHA:48686
Glomerulopathy With Fibronectin Deposits 1	Glomerular fibronectin deposits, Glomerulopathy, Nephropathy, Nephrotic syndrome, Microscopic hem...	OMIM:137950
Ciliary Dyskinesia, Primary, 24	Situs inversus totalis	OMIM:615481
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst	OMIM:615987
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Sclerosing cholangitis, Cholestasis, Portal hypertension, Elev...	OMIM:619662
Meacham Syndrome	Situs inversus totalis, Transposition of the great arteries, Hypoplasia of penis, Ventricular sep...	ORPHA:3097
Congenital Heart Defects, Multiple Types, 4	Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ...	OMIM:615779
Total Anomalous Pulmonary Venous Return 1	Dextrocardia, Total anomalous pulmonary venous return	OMIM:106700
Caroli Disease	Anorexia, Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegal...	ORPHA:53035
Thiamine-Responsive Megaloblastic Anemia Syndrome	Situs inversus totalis, Stroke, Cardiomyopathy, Atrial septal defect, Ventricular septal defect, ...	OMIM:249270
Ciliary Dyskinesia, Primary, 10	Situs inversus totalis	OMIM:612518
Congenital Heart Defects, Multiple Types, 9	Arteria lusoria, Transposition of the great arteries, Single ventricle of indeterminate morpholog...	OMIM:620294
Primary Peritoneal Carcinoma	Abdominal distention, Abdominal pain, Constipation, Peritonitis, Nausea and vomiting	ORPHA:168829
Ciliary Dyskinesia, Primary, 23	Situs inversus totalis	OMIM:615451
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Splenomegaly, Cholelithiasis	OMIM:224100
Primary Membranoproliferative Glomerulonephritis	Acute kidney injury, Glomerular subendothelial electron-dense deposits, Nephrotic syndrome, Micro...	ORPHA:54370
Ciliary Dyskinesia, Primary, 35	Abdominal situs ambiguus, Situs inversus totalis	OMIM:617092
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Mitral valve prolapse, Cerebral berry aneurysm, Hepatic cysts, Renal...	OMIM:173900
Renal-Hepatic-Pancreatic Dysplasia 2	Situs inversus totalis, Enlarged kidney, Truncus arteriosus, Hypertrophic cardiomyopathy, Pulmoni...	OMIM:615415
Meckel Syndrome, Type 5	Renal cyst, Bile duct proliferation	OMIM:611561
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia...	OMIM:314390
Meckel Syndrome, Type 6	Aplasia of the bladder, Renal cyst, Bile duct proliferation, Cystic liver disease, Absent gallbla...	OMIM:612284
Ciliary Dyskinesia, Primary, 30	Situs inversus totalis, Ventricular septal defect, Dextrocardia	OMIM:616037
Dubin-Johnson Syndrome	Biliary tract abnormality, Jaundice	OMIM:237500
Cholestasis, Benign Recurrent Intrahepatic, 2	Jaundice, Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly	OMIM:605479
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Secretory diarrhea, Inflammation of the large intestine	OMIM:616868
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia	OMIM:620085
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat...	OMIM:613027
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anorexia, Hepatomegaly, Pancreatitis, Abdominal pain, Hyperammonemia, Feeding difficulties, Splen...	ORPHA:79312
C3 Glomerulopathy 3	Mesangial matrix expansion, Glomerular subendothelial electron-dense deposits, Glomerular C3 depo...	OMIM:614809
Ciliary Dyskinesia, Primary, 13	Situs inversus totalis	OMIM:613193
Ciliary Dyskinesia, Primary, 16	Situs inversus totalis	OMIM:614017
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, ...	ORPHA:69663
Partial Atrioventricular Septal Defect	Abnormal tricuspid valve morphology, Heterotaxy, Bacterial endocarditis, Coronary sinus enlargeme...	ORPHA:1330
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Pancreatitis, Hyperammonemia, Nausea and vomiting, Renal insufficiency, Lethargy, R...	ORPHA:289916
Short Chain Acyl-Coa Dehydrogenase Deficiency	Ethylmalonic aciduria, Increased level of methylsuccinic acid in urine, Feeding difficulties, Ele...	ORPHA:26792
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Diarrhea, Intrahepatic cholestasis with episod...	OMIM:211600
Developmental And Epileptic Encephalopathy 102	Situs inversus totalis, Atrial septal defect	OMIM:619881
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Right aor...	OMIM:620642
Hypercalcemia, Infantile, 1	Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Vomiting, Nephrocalcinosis...	OMIM:143880
Pancreatic Colipase Deficiency	Steatorrhea, Cholelithiasis, Chronic diarrhea, Exocrine pancreatic insufficiency, Fat malabsorption	ORPHA:309108
Cirrhosis, Familial	Abdominal distention, Cirrhosis, Jaundice, Increased level of propylene glycol in blood, Fulminan...	OMIM:215600
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Jaundice, Cirrhosis, Hepatomegaly, Elevated circulating hepatic tran...	ORPHA:79301
Indomethacin Embryofetopathy	Abnormal renal tubule morphology, Multicystic kidney dysplasia, Renal insufficiency, Cardiomyopat...	ORPHA:1909
Congenital Sucrase-Isomaltase Deficiency	Abdominal distention, Gastroesophageal reflux, Diarrhea, Abdominal pain, Bloody diarrhea, Bowel i...	ORPHA:35122
Mitochondrial Complex I Deficiency, Nuclear Type 3	Hepatomegaly, Feeding difficulties, Episodic vomiting, Lethargy	OMIM:618224
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Pyruvate Dehydrogenase E3 Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn...	ORPHA:2394
Hepatic Veno-Occlusive Disease	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Abdominal pain, ...	ORPHA:890
Hereditary Fructose Intolerance	Abdominal distention, Hypermagnesemia, Jaundice, Hepatomegaly, Hyperuricemia, Diarrhea, Abdominal...	ORPHA:469
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Atrial septal defect, Isomerism, Partial anomalous pulmonary venous return, Dextrocardia, Ventric...	OMIM:619657
Autosomal Erythropoietic Protoporphyria	Decreased liver function, Cirrhosis, Cholelithiasis	ORPHA:79278
Ciliary Dyskinesia, Primary, 25	Situs inversus totalis, Dextrocardia	OMIM:615482
Intestinal Dysmotility Syndrome	Abdominal distention, Diarrhea, Projectile vomiting, High palate, Decreased intestinal transit ti...	OMIM:620045
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Jaundice, Renal insufficiency, Renal cyst, Polycystic liver disease, Bile duct proliferation, Dea...	OMIM:208500
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Atrioventricular canal defect, Double inlet left ventricle, Dextrocardia, P...	OMIM:270100
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Abdominal distention, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elev...	OMIM:618528
Ciliary Dyskinesia, Primary, 18	Abdominal situs ambiguus, Situs inversus totalis	OMIM:614874
Ciliary Dyskinesia, Primary, 27	Situs inversus totalis	OMIM:615504
Caroli Syndrome	Hematemesis, Elevated circulating hepatic transaminase concentration, Abnormal intrahepatic bile ...	ORPHA:480520
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Elevated circulating hepatic transaminase concentration, H...	OMIM:608836
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Abnormal coronary artery morphology, Abnormal aortic arch...	ORPHA:860
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr...	ORPHA:30391
Ciliary Dyskinesia, Primary, 51	Situs inversus totalis	OMIM:620438
Carnitine Palmitoyltransferase I Deficiency	Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ren...	OMIM:255120
Severe Canavan Disease	Oral-pharyngeal dysphagia, Gastroesophageal reflux, Elevated urine N-acetylaspartic acid level, P...	ORPHA:314911
Marfanoid Habitus With Situs Inversus	Situs inversus totalis, Aortic root aneurysm, Pulmonic stenosis, Mitral valve prolapse, Persisten...	OMIM:609008
Liver Disease, Severe Congenital	Elevated circulating hepatic transaminase concentration, Hypoproteinemia, Biliary hyperplasia, Hy...	OMIM:619991
Nephrotic Syndrome, Type 1	Abdominal distention, Gastroesophageal reflux, Glomerular sclerosis, Hypoproteinemia, Hyperlipide...	OMIM:256300
Renal Tubular Dysgenesis	Proximal tubulopathy, Nephropathy, Tetralogy of Fallot, Multiple renal cysts, Renotubular dysgenesis	ORPHA:3033
Fetal Trimethadione Syndrome	Transposition of the great arteries, Hypospadias, Tetralogy of Fallot, Atrial septal defect, Vent...	ORPHA:1913
Ciliary Dyskinesia, Primary, 9	Situs inversus totalis	OMIM:612444
Ciliary Dyskinesia, Primary, 28	Situs inversus totalis	OMIM:615505
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Vomiting, Increased blood urea nitrogen, Elevated circulating creatinine concentrat...	OMIM:617872
Dextrocardia	Situs inversus totalis, Dextrocardia, Abnormal renal morphology, Abnormality of the ureter, Conge...	ORPHA:1666
Bardet-Biedl Syndrome 17	Situs inversus totalis, Polyuria, Dextrocardia, Renal cyst, Stage 5 chronic kidney disease, Micro...	OMIM:615994
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Jaundice, Hepatomegaly, Generalized aminoaciduria, Renal cortical cysts, Polyc...	OMIM:231680
Ciliary Dyskinesia, Primary, 2	Situs inversus totalis, Dextrocardia	OMIM:606763
Nephrotic Syndrome, Type 7	Acute kidney injury, Hemolytic-uremic syndrome, Podocyte foot process effacement, Nephrotic syndr...	OMIM:615008
Whim Syndrome 2	Tetralogy of Fallot	OMIM:619407
Renal Dysplasia	Enlarged kidney, Renal hypoplasia/aplasia, Urinary incontinence, Abnormal nephron morphology, Ure...	ORPHA:93108
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Situs inversus totalis, Primum atrial septal defect, Partial atrioventricular canal defect	OMIM:619608
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Aortic Valve Disease 1	Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va...	OMIM:109730
Tetralogy Of Fallot	Tetralogy of Fallot	OMIM:187500
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Ciliary Dyskinesia, Primary, 32	Situs inversus totalis	OMIM:616481
Adiposis Dolorosa	Constipation, Abdominal distention, Depression	OMIM:103200
Medullary cystic kidney disease 2	Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Stage 5 chro...	OMIM:603860
Glucose-Galactose Malabsorption	Abdominal distention, Hematuria, Diarrhea, Nephrolithiasis, Vomiting, Hypernatremia, Osmotic diar...	ORPHA:35710
Focal Segmental Glomerulosclerosis 10	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron...	OMIM:256020
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Hemolytic-uremic s...	OMIM:612925
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Situs inversus totalis	OMIM:620197
Joubert Syndrome 6	Hepatic fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Bile duct proliferation	OMIM:610688
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypoplasia, Cholestasis, Panc...	OMIM:610199
Acrocephalopolydactyly	Abnormal renal morphology, Protuberant abdomen, Hepatosplenomegaly	ORPHA:221054
Combined Oxidative Phosphorylation Deficiency 11	Decreased liver function, Stillbirth, Hepatomegaly, Renal tubular acidosis, Renal cyst, Renal hyp...	OMIM:614922
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia, Hepatomegaly	OMIM:614859
Bardet-Biedl Syndrome 18	Stage 5 chronic kidney disease, Renal insufficiency	OMIM:615995
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros...	OMIM:310468
Adenine Phosphoribosyltransferase Deficiency	Hematuria, Abdominal pain, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating creatini...	OMIM:614723
Central Diabetes Insipidus	Anorexia, Diarrhea, Depression, Hyponatremia, Nocturia, Nausea and vomiting, Lethargy	ORPHA:178029
Liver Failure, Infantile, Transient	Abdominal distention, Jaundice, Elevated circulating hepatic transaminase concentration, Macroves...	OMIM:613070
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Bilateral superior vena...	OMIM:306955
Primary Ciliary Dyskinesia	Situs inversus totalis, Transposition of the great arteries, Abnormal atrial arrangement, Abnorma...	ORPHA:244
Glycogen Storage Disease Ia	Intermittent diarrhea, Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transaminase c...	OMIM:232200
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste...	OMIM:600649
Senior-Loken Syndrome 6	Stage 5 chronic kidney disease	OMIM:610189
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys	OMIM:613885
Bardet-Biedl Syndrome 16	Renal cyst, Renal agenesis, Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency	OMIM:615993
Von Hippel-Lindau Syndrome	Hepatic hemangioma, Neoplasm of the pancreas, Pheochromocytoma, Renal cell carcinoma, Multiple re...	OMIM:193300
Ciliary Dyskinesia, Primary, 12	Situs inversus totalis	OMIM:612650
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Diarrhea, Fibro-obliterative bile-duct lesion, ...	OMIM:619849
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic...	OMIM:308990
Coach Syndrome 3	Nephronophthisis, Portal fibrosis, Renal interstitial inflammation, Renal tubular atrophy, Renal ...	OMIM:619113
Meacham Syndrome	Enlarged kidney, Transposition of the great arteries, Partial anomalous pulmonary venous return, ...	OMIM:608978
Testicular Anomalies With Or Without Congenital Heart Disease	Corpus cavernosum hypoplasia, Perineal hypospadias, Tetralogy of Fallot, Microphallus	OMIM:615542
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts, Hyperuricemia	OMIM:609886
Hirschsprung Disease, Susceptibility To, 1	Abdominal distention, Aganglionic megacolon, Vomiting, Enterocolitis, Constipation, Abnormal ente...	OMIM:142623
Hypoglossia With Situs Inversus	Situs inversus totalis	OMIM:612776
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Nephroti...	ORPHA:567544
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Situs inversus totalis	OMIM:615434
Volvulus Of Midgut	Abdominal distention, Constipation, Intestinal malrotation, Volvulus, Neonatal intestinal obstruc...	OMIM:193250
Ciliary Dyskinesia, Primary, 14	Situs inversus totalis, Heterotaxy	OMIM:613807
Short Stature-Wormian Bones-Dextrocardia Syndrome	Midshaft hypospadias, Renal hypoplasia/aplasia, Dextrocardia, Patent ductus arteriosus	ORPHA:2863
Meckel Syndrome, Type 2	Renal cyst, Bile duct proliferation	OMIM:603194
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch...	OMIM:616002
Alveolar Echinococcosis	Decreased liver function, Jaundice, Liver abscess, Cholangitis, Abnormal bladder morphology, Abno...	ORPHA:284
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stag...	OMIM:603965
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Polycystic ovaries, Enlarged polycystic ovaries, Elevated circulating growth hormone concentratio...	ORPHA:90301
Wolman Disease	Abdominal distention, Steatorrhea, Hepatomegaly, Nausea and vomiting, Splenomegaly, Malnutrition,...	ORPHA:75233
Scimitar Syndrome	Mitral atresia, Abnormal heart morphology, Interrupted inferior vena cava with azygous continuati...	ORPHA:185
Intellectual Developmental Disorder, X-Linked 112	Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Renal cy...	OMIM:301111
Ciliary Dyskinesia, Primary, 20	Situs inversus totalis, Dextrocardia, Aortic valve stenosis, Pulmonary artery stenosis, Persisten...	OMIM:615067
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Pancreatitis, Hyperammonemia, Nausea and vomiting, Renal insufficiency, Lethargy	ORPHA:27
Small Bowel Atresia	Abdominal distention, Intestinal hypoplasia, Vomiting, Intestinal malrotation, Feeding difficulti...	ORPHA:1201
Thomas Syndrome	Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Hypoplastic left heart	ORPHA:3316
22Q11.2 Duplication Syndrome	Transposition of the great arteries, Interrupted aortic arch, Hydronephrosis, Displacement of the...	ORPHA:1727
Diarrhea 12, With Microvillus Atrophy	Abdominal distention, Microvillar PAS-positive secretory granules, Vomiting, Secretory diarrhea, ...	OMIM:619445
Cystinuria	Argininuria, Recurrent urinary tract infections, Nephrolithiasis, Ornithinuria, Hyperlysinuria, R...	OMIM:220100
Rhyns Syndrome	Abnormality of the liver, Hypopituitarism, Nephronophthisis, Multicystic kidney dysplasia	ORPHA:140976
Xanthinuria, Type Ii	Xanthinuria, Hypouricemia, Nephrolithiasis, Increased circulating hypoxanthine concentration, Inc...	OMIM:603592
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,...	OMIM:612926
Ciliary Dyskinesia, Primary, 22	Situs inversus totalis, Dextrocardia	OMIM:615444
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Hyperuricemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia,...	OMIM:613092
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Anorexia, Isothenuria, Hypokalemia, Nephrocalcinosis, Hepatosplenomegaly, Distal renal tubular ac...	OMIM:611590
Ciliary Dyskinesia, Primary, 26	Situs inversus totalis	OMIM:615500
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea nitrogen,...	OMIM:612924
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Dicarboxylic aciduria, Exercise-induced myoglobinuria, Hepatomegaly, Gastroesophageal reflux, Epi...	OMIM:201475
Dihydrolipoamide Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	OMIM:246900
Megabladder, Congenital	Stage 5 chronic kidney disease, Multiple glomerular cysts, Fetal megacystis, Left ventricular non...	OMIM:618719
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure	OMIM:177000
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Poor suck, Lethargy, Dicarboxylic aciduria	OMIM:615026
Nephrotic Syndrome, Type 26	Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal s...	OMIM:620049
Diabetic Embryopathy	Renal hypoplasia/aplasia, Transposition of the great arteries, Ureteral duplication, Abnormal aor...	ORPHA:1926
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia, Multinodular goiter	ORPHA:2091
Camos Syndrome	Nephrotic syndrome, Renal insufficiency	ORPHA:83472
Nail-Patella-Like Renal Disease	Microscopic hematuria, Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2613
Renal Hypoplasia, Bilateral	Hyperkalemia, Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinur...	ORPHA:97362
Asherman Syndrome	Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc...	ORPHA:137686
Dubin-Johnson Syndrome	Jaundice, Hepatomegaly, Abdominal pain, Biliary tract abnormality, Abnormality of the liver, Abno...	ORPHA:234
Bardet-Biedl Syndrome 14	Renal insufficiency	OMIM:615991
Porphyria Due To Ala Dehydratase Deficiency	Abdominal distention, Increased erythrocyte protoporphyrin concentration, Increased urinary porph...	ORPHA:100924
Focal Segmental Glomerulosclerosis 6	Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein...	OMIM:614131
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Splenomegaly, Pigment gallstones, Cholecystitis	OMIM:613470
Carnitine Deficiency, Systemic Primary	Dicarboxylic aciduria, Hepatomegaly, Decreased circulating carnitine concentration, Diarrhea, Mic...	OMIM:212140
Glycine Encephalopathy 1	Hyperglycinuria, Hyperglycinemia, Lethargy	OMIM:605899
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Jaundice, Cirrhosis, Hepatomegaly, Acholic stools, Abdominal pain, P...	ORPHA:1414
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Abdominal distention, Hepatomegaly, Generalized aminoaciduria, Renal tubula...	ORPHA:2088
Gallbladder Neuroendocrine Tumor	Anorexia, Abdominal distention, Biliary tract obstruction, Intermittent jaundice, Episodic abdomi...	ORPHA:100086
Criss-Cross Heart	Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve...	ORPHA:1461
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ectopic kidney, Death in infancy, Neonatal death, Cryptorchidism, Cystic renal dysp...	OMIM:613730
Lambert Syndrome	Intrahepatic biliary atresia, Jaundice, Hypospadias	OMIM:245550
Axial Osteomalacia	Renal cyst, Polycystic liver disease	OMIM:109130
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Renal salt wasting, Polyuria, Hyperuricemia, Increased blood urea nitrogen, Hyponatremia, Hyperec...	OMIM:613845
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased...	OMIM:232220
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Dicarboxylic aciduria, Elevated circulating hepatic transaminase concen...	ORPHA:42
Ciliary Dyskinesia, Primary, 44	Heterotaxy	OMIM:618781
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Enlarged kidney, Elevated circulating hepatic transaminase concentra...	OMIM:276700
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Bowel incontinence, Constipa...	ORPHA:84085
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Hepatomegaly, Diarrhea, Reye syndrome-like episodes, Hyperalaninemia, Vomiting, Nausea, Poor appe...	ORPHA:927
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Hyperuricemia, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Elevated c...	OMIM:617056
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn...	OMIM:201450
Crigler-Najjar Syndrome Type 1	Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice	ORPHA:79234
Fanconi-Bickel Syndrome	Generalized aminoaciduria, Hypophosphatemia, Intrahepatic cholestasis, Hyperphosphaturia, Poor ap...	OMIM:227810
Glucose/Galactose Malabsorption	Abdominal distention, Chronic diarrhea, Glycosuria, Malabsorption, Hyperactive bowel sounds	OMIM:606824
Posterior Urethral Valve	Urinary incontinence, Unilateral renal dysplasia, Pyelonephritis, Recurrent urinary tract infecti...	ORPHA:93110
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney, Protuberant abdomen	OMIM:618272
Kaposiform Lymphangiomatosis	Enlarged kidney, Abnormal spleen morphology, Hepatosplenomegaly, Splenomegaly, Multiple renal cys...	ORPHA:464329
Meckel Syndrome, Type 4	Renal cyst, Bile duct proliferation	OMIM:611134
Desmoplastic Small Round Cell Tumor	Abdominal distention, Hepatomegaly, Neoplasm of the pancreas, Ovarian neoplasm, Abnormal peritone...	ORPHA:83469
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Proteinuria, Focal segmental glomerulosclerosis, Renal insufficiency	OMIM:607832
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria	OMIM:614199
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hyperglycinemia, Hepatomegaly, Pancreatitis, Methylmalonic acidemia, Diarrhea, Vomiting, Hyperamm...	OMIM:251000
Nephrotic Syndrome, Type 2	Hyperlipidemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbumine...	OMIM:600995
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased liver function, Hepatomegaly, Hyperornithinemia, Episodic vomiting, Protein avoidance, ...	OMIM:238970
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Vomiting, Acute hyperammonemia, Lethargy, 3-hydroxyisovaleric aciduria, ...	OMIM:210200
Diaphanospondylodysostosis	Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Nephrogenic rest, Protuberant ab...	OMIM:608022
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Ketonuria, Elevated urine acetoacetic acid level, Jaundice, Low plasma citrulline, Episodic vomit...	OMIM:615751
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot	OMIM:617992
Citrullinemia, Classic	Cirrhosis, Hepatomegaly, Oroticaciduria, Elevated plasma citrulline, Protein avoidance, Vomiting,...	OMIM:215700
Ovarian Fibroma	Abdominal distention, Mesenteric cyst, Ovarian fibroma, Abdominal pain, Abnormality of the ovary,...	ORPHA:314473
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Abdominal distention, Intestinal pseudo-obstruction, Abdominal pain, Constipation, Malabsorption,...	OMIM:613662
Spondylocostal Dysostosis 4, Autosomal Recessive	Situs inversus totalis, Dextrocardia, Aplasia of posterior communicating artery, Neurogenic bladd...	OMIM:613686
Congenital Short Bowel Syndrome	Abdominal distention, Steatorrhea, Projectile vomiting, Chronic diarrhea, Abnormal peristalsis, C...	OMIM:615237
Fanconi Anemia, Complementation Group O	Miscarriage, Renal cyst, Death in infancy, Neonatal death, Hydronephrosis, Stage 5 chronic kidney...	OMIM:613390
Alagille Syndrome 2	Cholestatic liver disease, Hematuria, Renal tubular acidosis, Cholestasis, Renal cyst, Renal hypo...	OMIM:610205
Thoraco-Abdominal Enteric Duplication	Abnormal tricuspid valve morphology, Dextrocardia	ORPHA:1759
Visceral Myopathy 1	Abdominal distention, Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Pan...	OMIM:155310
Adenine Phosphoribosyltransferase Deficiency	Acute kidney injury, Recurrent urinary tract infections, Dysuria, Uric acid nephrolithiasis, Neph...	ORPHA:976
Fibronectin Glomerulopathy	Glomerulopathy, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematur...	ORPHA:84090
Double Outlet Right Ventricle	Heterotaxy, Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Coarctation of aorta...	ORPHA:3426
Cap Polyposis	Abdominal distention, Colorectal polyposis, Diarrhea, Abdominal pain, Constipation, Hematochezia,...	ORPHA:160148
Nephrotic Syndrome, Type 18	Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta...	OMIM:618177
Nephrotic Syndrome, Type 19	Stage 3 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta...	OMIM:618178
Nephrotic Syndrome, Type 20	Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta...	OMIM:301028
Intellectual Developmental Disorder, Autosomal Dominant 66	Cerebral cavernous malformation, Secundum atrial septal defect, Transposition of the great arteri...	OMIM:619910
Nephrotic Syndrome, Type 17	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Steroid-resistant nephrot...	OMIM:618176
Early Myoclonic Encephalopathy	Lethargy, Poor suck, Dysphagia, Feeding difficulties	ORPHA:1935
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Decreased glomerular filtration rate, Hyperuricemia, Nephropathy, Renal tubular atrophy, Nephriti...	OMIM:162000
Nephronophthisis-Like Nephropathy 2	Polyuria, Elevated circulating creatinine concentration, Tubular luminal dilatation, Periglomerul...	OMIM:619468
Nephrotic Syndrome, Type 15	Minimal change glomerulonephritis, Proteinuria, Hypoalbuminemia, Steroid-resistant nephrotic synd...	OMIM:617609
Nephrotic Syndrome, Type 9	Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Steroid-r...	OMIM:615573
Ciliary Dyskinesia, Primary, 19	Situs inversus totalis	OMIM:614935
Dihydropyrimidine Dehydrogenase Deficiency	Uraciluria, Lethargy, Elevated urinary dihydrothymine level	OMIM:274270
Focal Segmental Glomerulosclerosis 8	Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis	OMIM:616032
Urofacial Syndrome 2	Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Constipatio...	OMIM:615112
Cardiac Diverticulum	Abnormal coronary artery origin, Aortic valve stenosis, Abnormal heart morphology, Mitral valve p...	ORPHA:1686
Multicystic Dysplastic Kidney	Abdominal distention, Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruc...	ORPHA:1851
Dihydropyrimidinase Deficiency	Uraciluria, Elevated urinary dihydrothymine level, Elevated urinary dihydrouracil level, Elevated...	OMIM:222748
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Elevated circulating...	ORPHA:247585
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Renal tubular acidosis, Tr...	ORPHA:156
Hyperphenylalaninemia, Bh4-Deficient, B	Decreased urinary biopterin level, Poor suck, Hyperphenylalaninemia, Dysphagia, Feeding difficult...	OMIM:233910
Hjv Or Hamp-Related Hemochromatosis	Abnormality of endocrine pancreas physiology, Elevated circulating hepatic transaminase concentra...	ORPHA:79230
Preeclampsia	Acute kidney injury, Abnormality of the kidney, Elevated circulating creatinine concentration, El...	ORPHA:275555
Ritscher-Schinzel Syndrome 1	Hypospadias, Pulmonic stenosis, Aortic valve stenosis, Hydronephrosis, Tetralogy of Fallot, Doubl...	OMIM:220210
Thoracoabdominal Syndrome	Ectopia cordis, Transposition of the great arteries, Hypospadias, Renal agenesis, Patent ductus a...	OMIM:313850
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abdominal distention, Cirrhosis, Elevated circulating hepatic transaminase concentration, Macrove...	ORPHA:298
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Anorexia, Lethargy	ORPHA:79283
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Abdominal distention, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentratio...	OMIM:617156
Maple Syrup Urine Disease, Type Ia	Increased level of hippuric acid in urine, Pancreatitis, Vomiting, Elevated circulating branched ...	OMIM:248600
Nephrotic Syndrome, Type 13	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc...	OMIM:616893
Ciliary Dyskinesia, Primary, 15	Situs inversus totalis	OMIM:613808
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Increased circulating iron concentration, Splenomegaly, Increased circul...	OMIM:602390
Complement Factor H Deficiency	Thickened glomerular basement membrane, Hematuria, Glomerular subendothelial electron-dense depos...	OMIM:609814
Nephronophthisis	Renal insufficiency	ORPHA:655
Peritoneal Cystic Mesothelioma	Constipation, Abdominal distention, Peritonitis, Abdominal pain	ORPHA:168816
Ppoma	Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pituitary adenoma,...	ORPHA:97278
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of...	ORPHA:99050
Dent Disease 2	Low-molecular-weight proteinuria, Hypercalciuria, Proximal tubulopathy, Elevated circulating crea...	OMIM:300555
Nephronophthisis 7	Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis	OMIM:611498
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Ventricular septal defect, Pulmonary artery atresia, Tetralogy of Fallot	ORPHA:1908
Retinitis Pigmentosa 59	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Feeding difficulties, Micr...	OMIM:613861
Citrullinemia, Type Ii, Adult-Onset	Pancreatitis, Argininosuccinic aciduria, Portal inflammation, Hepatocellular carcinoma, Elevated ...	OMIM:603471
Nephrosialidosis	Nephrotic syndrome, Pericardial effusion, Nephropathy, Renal insufficiency	OMIM:256150
Alport Syndrome 3B, Autosomal Recessive	Thin glomerular basement membrane, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Albumi...	OMIM:620536
Congenital Disorder Of Glycosylation, Type Ib	Steatorrhea, Cirrhosis, Hepatomegaly, Diarrhea, Proximal tubulopathy, Renal cyst, Vomiting, Hepat...	OMIM:602579
Congenital Bile Acid Synthesis Defect Type 2	Steatorrhea, Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepati...	ORPHA:79303
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Cholecystitis, Jaundice, Splenomegaly, Cholelithiasis	OMIM:235700
Homocystinuria Without Methylmalonic Aciduria	Vomiting, Lethargy	ORPHA:622
Recombinant Chromosome 8 Syndrome	Pulmonic stenosis, Hydronephrosis, Tetralogy of Fallot, Patent ductus arteriosus, Double outlet r...	OMIM:179613
Pancreatoblastoma	Abdominal distention, Jaundice, Diarrhea, Abdominal pain, Vomiting, Pancreatic calcification	ORPHA:677
Nephrotic Syndrome, Type 4	Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephroblastoma, Diffuse mesangial scleros...	OMIM:256370
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, Sc...	ORPHA:562639
Igg4-Related Retroperitoneal Fibrosis	Anorexia, Acute kidney injury, Renal tubular epithelial necrosis, Hematuria, Elevated circulating...	ORPHA:49041
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Abdominal pain, Splenic infarction, Splenomega...	OMIM:603903
Argininosuccinic Aciduria	Hepatomegaly, Oroticaciduria, Protein avoidance, Increased circulating argininosuccinic acid, Vom...	OMIM:207900
Ciliary Dyskinesia, Primary, 5	Situs inversus totalis	OMIM:608647
Primary Hepatic Neuroendocrine Carcinoma	Anorexia, Abdominal distention, Hepatomegaly, Elevated circulating hepatic transaminase concentra...	ORPHA:100085
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Abdominal distention, Recurrent urinary tract infections, Nephrolithiasis, Hypoperistalsis, Fetal...	OMIM:619365
Cholesteryl Ester Storage Disease	Steatorrhea, Cirrhosis, Hepatomegaly, Periportal fibrosis, Diarrhea, Portal hypertension, Elevate...	OMIM:278000
Infantile Liver Failure Syndrome 2	Jaundice, Elevated circulating hepatic transaminase concentration, Vomiting, Hyperammonemia, Acut...	OMIM:616483
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Jaundice, Homocystinuria, Diarrhea, Hyperhomocystinemia, Vomiting, Hypomethioninemia, Feeding dif...	OMIM:250940
Thrombotic Thrombocytopenic Purpura, Hereditary	Jaundice, Hemolytic-uremic syndrome, Microscopic hematuria, Prolonged neonatal jaundice, Increase...	OMIM:274150
Uremic Pruritus	Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia, Chronic kidney disease...	ORPHA:94059
Nephronophthisis 18	Nephronophthisis, Portal fibrosis, Cholestasis, Thickened glomerular basement membrane, Renal tub...	OMIM:615862
Congenital Anomalies Of Kidney And Urinary Tract 2	Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone...	OMIM:143400
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Hemoglobinuria, Hepatitis	OMIM:194380
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Hematuria, Diarrhea, Abdominal pain, Decreased serum creatinine, Proteinuria...	ORPHA:54057
Spherocytosis, Type 1	Jaundice, Splenomegaly, Cholelithiasis	OMIM:182900
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Acute kidney injury, Abnormal circulating lipid concentration, Hypercholest...	ORPHA:567548
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Situs inversus totalis	OMIM:614833
Hardikar Syndrome	Decreased liver function, Hematemesis, Elevated circulating hepatic transaminase concentration, I...	OMIM:301068
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Proximal tu...	OMIM:229600
Secondary Short Bowel Syndrome	Abdominal distention, Steatorrhea, Aganglionic megacolon, Diarrhea, Small intestinal dysmotility,...	ORPHA:95427
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Elevated circulating hepatic transaminase concentration, Feeding difficulties in ...	OMIM:610498
Agnathia-Otocephaly Complex	Situs inversus totalis, Secundum atrial septal defect	OMIM:202650
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Elevated circulating...	ORPHA:64743
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Intestinal obstruction, Gastrointestinal hemorrhage, Decreased HDL chol...	ORPHA:85450
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricemia, Uric aci...	ORPHA:411536
Methylmalonic Acidemia With Homocystinuria	Feeding difficulties, Lethargy	ORPHA:26
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal heart morphology,...	ORPHA:216694
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Abdominal distention, Hepatomegaly, Diarrhea, Cholestasis, Vomiting, Ne...	OMIM:608104
Complement Component 3 Deficiency, Autosomal Recessive	Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis	OMIM:613779
Propionic Acidemia	Increased level of hippuric acid in urine, Pancreatitis, Hepatomegaly, Hyperglycinuria, Vomiting,...	OMIM:606054
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperalaninemia, Cardiomeg...	OMIM:619064
Idiopathic Congenital Hypothyroidism	Constipation, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Lethargy, Feeding difficu...	ORPHA:95717
Athyreosis	Constipation, Abdominal distention, Macroglossia, Feeding difficulties	ORPHA:95713
Malaria	Nausea and vomiting, Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive pro...	ORPHA:673
Developmental And Epileptic Encephalopathy 92	Feeding difficulties, Lethargy	OMIM:617829
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Glycosuria, Lethargy, Ke...	ORPHA:2089
Chylomicron Retention Disease	Abdominal distention, Steatorrhea, Elevated circulating hepatic transaminase concentration, Diarr...	ORPHA:71
Malignant Peritoneal Mesothelioma	Abdominal distention, Ileus, Peritonitis, Abdominal pain	ORPHA:168811
Beta-Thalassemia	Hepatomegaly, Hepatitis, Splenomegaly, Cholelithiasis	ORPHA:848
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Cholelithiasis, Pancreatic hypoplasia, Biliary hyperplasia, Hydronephrosis, Cryptor...	ORPHA:83617
Truncus Arteriosus	Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ...	ORPHA:3384
Glutaric Acidemia Type 3	Glutaric aciduria, Abnormal circulating enzyme concentration, Elevated circulating glutaric acid ...	ORPHA:35706
Iga Nephropathy, Susceptibility To, 2	Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease	OMIM:613944
Pyruvate Kinase Deficiency Of Red Cells	Jaundice, Hepatomegaly, Cholelithiasis, Splenomegaly, Cholecystitis	OMIM:266200
Distal Triplication 15Q	Abnormality of the kidney, Hypoplastic aortic arch, Polycystic kidney dysplasia, Hydronephrosis, ...	ORPHA:314588
Babesiosis	Anorexia, Jaundice, Hepatomegaly, Depression, Splenomegaly, Nausea and vomiting, Renal insufficie...	ORPHA:108
Familial Hyperprolactinemia	Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea	ORPHA:397685
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Oroticaciduria, Protein avoidance, Abdominal pain, Elevated circulating alanine aminotransferase ...	OMIM:311250
Femoral-Facial Syndrome	Renal hypoplasia/aplasia, Long penis, Polycystic kidney dysplasia, Abnormal localization of kidne...	ORPHA:1988
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Diarrhea, Pheochromocytoma, Primary hyperparathyroidism, No...	ORPHA:1332
Poland Syndrome	Dextrocardia	OMIM:173800
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Martinez-Frias Syndrome	Annular pancreas, Hypoplasia of the gallbladder, Hypospadias, Pancreatic hypoplasia, Extrahepatic...	OMIM:601346
Senior-Loken Syndrome	Stage 5 chronic kidney disease, Nephronophthisis, Congenital hepatic fibrosis, Chronic kidney dis...	ORPHA:3156
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Situs inversus totalis, Hypoplasia of penis	ORPHA:990
Bardet-Biedl Syndrome 4	Abnormality of the kidney, Cryptorchidism, Renal cyst	OMIM:615982
C3 Glomerulopathy	Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Nephrotic syndrome...	ORPHA:329918
Iga Nephropathy, Susceptibility To, 3	Hematuria, Proteinuria, Mesangial hypercellularity, IgA deposition in the glomerulus, Stage 5 chr...	OMIM:616818
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Diffuse pancreatic islet hyperplasia, Increased C-peptide level, Feeding difficulti...	ORPHA:276556
Ochoa Syndrome	Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral re...	ORPHA:2704
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Abdominal distention, Intestinal pseudo-obstruction, Congenital shortened small intestine, Vomiti...	OMIM:300048
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Diffuse pancreatic islet hyperplasia, Focal pancreatic islet hyperplasia, Increased...	ORPHA:276575
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Methylmalonic acidemia, Hyperhomocystinemia, Homocystinuria, Hypomethioninemia, Methylmalonic aci...	OMIM:236270
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Elevated circulating creatine kinase concentration, 3-Methylglutaconic aciduria, Lethargy, Hypera...	OMIM:618120
Polysyndactyly With Cardiac Malformation	Stillbirth, Hepatic cysts, Renal cyst	OMIM:263630
Developmental And Epileptic Encephalopathy 40	Feeding difficulties, Lethargy	OMIM:617065
Spermatogenic Failure 12	Infertility, Azoospermia	OMIM:615413
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Protein avoidance, Vomiting, Hyperammonemia, Episodic ammonia intoxication, Low plasma citrulline...	OMIM:237300
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating hepatic transaminase concentration, Myoglobinuria, Cholestasis, Elevated cir...	OMIM:609015
Acute Intermittent Porphyria	Elevated urinary delta-aminolevulinic acid, Abdominal distention, Urinary incontinence, Increased...	ORPHA:79276
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Hep...	ORPHA:400
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Renal hypoplasia/aplasia, Vesicoureteral reflux, Abnormal aortic morphology, Tetralogy of Fallot,...	ORPHA:1166
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Decreased circula...	ORPHA:71212
Citrullinemia Type I	Elevated plasma citrulline, Gastroesophageal reflux, Vomiting, Hyperammonemia, Feeding difficulti...	ORPHA:247525
Joubert Syndrome 18	Intrahepatic biliary atresia, Horseshoe kidney, Renal cyst	OMIM:614815
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypophosphatemic rickets, ...	ORPHA:263455
Beta-Thalassemia Intermedia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Hypoparathyroidism, Cholelithiasis, ...	ORPHA:231222
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Elevated circulating creatinin...	ORPHA:449395
Marden-Walker Syndrome	Epispadias, Abnormality of the kidney, Situs inversus totalis, Renal hypoplasia/aplasia, Hydroure...	ORPHA:2461
Senior-Boichis Syndrome	Tubular luminal dilatation, Elevated circulating hepatic transaminase concentration, Cholestasis,...	ORPHA:84081
Renal Hypoplasia	Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ...	ORPHA:93101
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Acute kidney injury, Hepatomegaly, Ureteral duplication, Cholangitis, Nephronophthisis, Cholestas...	OMIM:266920
Peroxisome Biogenesis Disorder 11A (Zellweger)	Decreased liver function, Elevated circulating hepatic transaminase concentration, Multiple renal...	OMIM:614883
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Hypothyroidism, Congenital, Nongoitrous, 7	Lethargy	OMIM:618573
Genetic Steroid-Resistant Nephrotic Syndrome	Minimal change glomerulonephritis, Abdominal pain, Focal segmental glomerulosclerosis, Proteinuri...	ORPHA:656
Combined Oxidative Phosphorylation Deficiency 37	Decreased liver function, 3-Methylglutaconic aciduria, Elevated circulating hepatic transaminase ...	OMIM:618329
Congenital Heart Defects, Multiple Types, 3	Persistent left superior vena cava, Atrial septal defect, Abnormal heart morphology, Tetralogy of...	OMIM:614954
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Acute kidney injury, Renal insufficiency, Hyperuricemia, Dysuria, Uric acid nephrolithiasis, Macr...	ORPHA:79233
Lysinuric Protein Intolerance	Hypertriglyceridemia, Steatorrhea, Argininuria, Elevated circulating hepatic transaminase concent...	ORPHA:470
Myotonic Dystrophy 1	Feeding difficulties in infancy, Dysphagia, Cholelithiasis, Testicular atrophy	OMIM:160900
Mitchell-Riley Syndrome	Annular pancreas, Biliary atresia, Diarrhea, Pancreatic hypoplasia, Cholestasis, Malabsorption, A...	OMIM:615710
Peroxisome Biogenesis Disorder 2A (Zellweger)	Jaundice, Hepatomegaly, Death in childhood, Polycystic kidney dysplasia, Intrahepatic biliary dys...	OMIM:214110
Mpdu1-Cdg	Renal cortical cysts, Decreased response to growth hormone stimulation test	ORPHA:79323
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Hemolytic-uremic syndrome, Diarrhea, Anuria, Hyperlipidemia, Increased blood...	OMIM:235400
Liddle Syndrome	Constipation, Nephropathy, Hypokalemia, Renal insufficiency	ORPHA:526
Gaba-Transaminase Deficiency	Feeding difficulties, Lethargy	OMIM:613163
Colonic Atresia	Peptic ulcer, Abdominal distention, Duodenal stenosis, Abnormal mesentery morphology, Colonic atr...	ORPHA:1198
Trisomy 17P	Patent ductus arteriosus, Hypoplasia of penis, Polycystic kidney dysplasia, Aortic valve stenosis...	ORPHA:261290
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Patent foramen ovale, Transposition of the great arteries	OMIM:616789
8P23.1 Microdeletion Syndrome	Transposition of the great arteries, Atrioventricular canal defect, Hypospadias, Abnormal aortic ...	ORPHA:251071
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Abdominal distention, Constipation, Prolonged neonatal jaundice, Goiter, Protuberant abdomen, Fee...	ORPHA:226313
Familial Isolated Hyperparathyroidism	Abdominal symptom, Hypercalciuria, Primary hyperparathyroidism, Hyperphosphaturia, Nephrocalcinos...	ORPHA:99879
Jeune Syndrome	Nephronophthisis, Nephropathy, Abnormality of the liver, Renal insufficiency, Feeding difficultie...	ORPHA:474
Glycogen Storage Disease Vii	Exercise-induced myoglobinuria, Jaundice, Hematuria, Cholelithiasis	OMIM:232800
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Grfoma	Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pheochromocytoma, ...	ORPHA:97261
Focal Segmental Glomerulosclerosis 5	Microscopic hematuria, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscle...	OMIM:613237
Rhabdomyolysis, Susceptibility To, 1	Abnormal circulating acylcarnitine concentration, Renal insufficiency, Elevated circulating creat...	OMIM:620235
8P23.1 Duplication Syndrome	Pulmonic stenosis, Hydronephrosis, Ventricular septal defect, Tetralogy of Fallot	ORPHA:251076
Isolated Atp Synthase Deficiency	3-Methylglutaconic aciduria, Hepatomegaly, Hyperalaninemia, Renal hypoplasia, Hyperammonemia, Let...	ORPHA:254913
Hypouricemia, Renal, 1	Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ...	OMIM:220150
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Gastroesophageal reflux, Glomerular sclerosis, Diarrhea, Vomiting, Constipation, Increased blood ...	OMIM:223900
Methylmalonic Aciduria, Cblb Type	Elevated circulating methylmalonylcarnitine concentration, Hyperglycinemia, Hepatomegaly, Methylm...	OMIM:251110
Coach Syndrome 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Nephronophthisi...	OMIM:216360
Odontochondrodysplasia 1	Polycystic kidney dysplasia, Nephronophthisis, Death in infancy	OMIM:184260
Gillessen-Kaesbach-Nishimura Syndrome	Polycystic kidney dysplasia, Abnormal heart morphology	OMIM:263210
Phenobarbital Embryopathy	Abnormal mitral valve morphology, Tetralogy of Fallot, Hypospadias	ORPHA:1919
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Feeding difficulties in infancy, Renal cyst	OMIM:614862
Nephrotic Syndrome, Type 6	Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi...	OMIM:614196
Developmental And Epileptic Encephalopathy 66	Atrial septal defect, Ventricular septal defect, Dextrocardia	OMIM:618067
Sialuria	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholelithiasis, Episodic a...	ORPHA:3166
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Hepatic fibrosis, Pancreatic fibrosis, Pol...	OMIM:200995
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Renal insufficiency, Proteinuria	OMIM:245900
Combined Oxidative Phosphorylation Deficiency 59	Vomiting, Dicarboxylic aciduria, Feeding difficulties, Cholelithiasis	OMIM:620646
Hyperprolinemia Type 2	Prolinuria, Diarrhea, Abdominal pain, Depression, Hyperalaninemia, Increased urine alpha-ketoglut...	ORPHA:79101
Congenital Heart Defects, Multiple Types, 7	Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ...	OMIM:618780
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Abdominal distention, Hydroureter, Fetal megacystis, Microcolon, Neonatal death, Hydronephrosis	OMIM:619362
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Dysphagia, Lethargy	OMIM:613561
Crigler-Najjar Syndrome	Abnormality of the liver, Jaundice, Lethargy	ORPHA:205
Lesch-Nyhan Syndrome	Hyperuricemia, Hematuria, Renal insufficiency	ORPHA:510
Methylcobalamin Deficiency Type Cble	Glomerulopathy, Hemolytic-uremic syndrome, Hyperhomocystinemia, Vomiting, Hypomethioninemia, Feed...	ORPHA:2169
Lessel-Kubisch Syndrome	Renal hypoplasia, Renal insufficiency	OMIM:618681
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	ORPHA:79095
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Enlarged kidney, Hepatocellular adenoma, Tubulointerstitial fibrosis, Hyper...	ORPHA:79259
Atresia Of Urethra	Abdominal distention, Hydroureter, Recurrent urinary tract infections, Dilatation of the bladder,...	ORPHA:105
Thyroid Hypoplasia	Constipation, Abdominal distention, Jaundice, Thyroid hypoplasia	ORPHA:95720
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Persistent left superior vena c...	ORPHA:3304
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Elevated urinary catecholamine level, Adrenal pheochromocytoma, Pancrea...	ORPHA:892
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Hyperhomocystinemia, Elevated circulating palmitoleylcarnitine concent...	ORPHA:79284
Familial Mediterranean Fever, Autosomal Dominant	Abdominal pain, Proteinuria, Peritonitis, Renal amyloidosis, Renal insufficiency	OMIM:134610
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Dec...	ORPHA:159
Paroxysmal Nocturnal Hemoglobinuria	Acute kidney injury, Jaundice, Reduced haptoglobin level, Chronic kidney disease, Hemosiderinuria...	ORPHA:447
Multiple Mitochondrial Dysfunctions Syndrome 1	Hyperglycinuria, Alpha-aminoadipic aciduria, Neonatal death, Increased urine alpha-ketoglutarate ...	OMIM:605711
Lcat Deficiency	Hypertriglyceridemia, Acute kidney injury, Decreased HDL cholesterol concentration, Decreased glo...	ORPHA:650
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Gastroesophageal reflux, Homocystinuria, Hyperhomocystinemia, Cryptorchid...	OMIM:614857
Retinitis Pigmentosa 89	Intrahepatic bile duct dilatation, Hepatosplenomegaly, Hepatic fibrosis, Micronodular cirrhosis	OMIM:618955
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis	OMIM:612551
Ellis Van Creveld Syndrome	Epispadias, Abnormality of the kidney, Situs inversus totalis, Renal hypoplasia/aplasia, Hydroure...	ORPHA:289
Meckel Syndrome	Ureteral duplication, Accessory spleen, Pancreatic cysts, Asplenia, Cryptorchidism, Congenital he...	ORPHA:564
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Aortic aneurysm, Abnormal renal morphology, Patent foramen ovale, Persistent left superior vena c...	ORPHA:477817
Peutz-Jeghers Syndrome	Intestinal obstruction, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Abnormality of...	ORPHA:2869
Congenital Tufting Enteropathy	Cholestatic liver disease, Abdominal distention, Steatorrhea, Abnormal large intestinal mucosa mo...	ORPHA:92050
Hereditary Spherocytosis	Abdominal distention, Jaundice, Hepatomegaly, Cholelithiasis, Abdominal pain, Splenomegaly	ORPHA:822
Glut1 Deficiency Syndrome 1	Lethargy, Paroxysmal lethargy	OMIM:606777
Congenital Heart Defects, Multiple Types, 2	Myxomatous mitral valve degeneration, Aortic aneurysm, Aortic valve stenosis, Tetralogy of Fallot...	OMIM:614980
Cardiac-Urogenital Syndrome	Enlarged kidney, Mesocardia, Penoscrotal hypospadias, Patent ductus arteriosus, Partial anomalous...	OMIM:618280
Congenital Disorder Of Glycosylation, Type Il	Pericardial effusion, Polycystic kidney dysplasia, Atrial septal defect	OMIM:608776
Hereditary Xanthinuria	Acute kidney injury, Hematuria, Xanthinuria, Hypouricemia, Recurrent urinary tract infections, De...	ORPHA:3467
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Hypospadias, Patent foramen ovale, Pulmonary artery atresia, Tetralogy of...	OMIM:618316
Carnitine Palmitoyltransferase Ii Deficiency	Renal tubular epithelial necrosis, Myoglobinuria, Polycystic kidney dysplasia, Red-brown urine, H...	ORPHA:157
Methylmalonic Aciduria, Cbla Type	Elevated urine 3-hydroxypropionic acid level, Hyperglycinemia, Hepatomegaly, Methylmalonic acidem...	OMIM:251100
Gonadoblastoma	Abdominal distention, Abdominal pain, Abnormality of the ovary, Ovarian gonadoblastoma, Dysgerminoma	ORPHA:206484
Microvillus Inclusion Disease	Abdominal distention, Diarrhea, Abnormal small intestinal villus morphology, Nephrocalcinosis, Ab...	ORPHA:2290
Mesangial sclerosis, diffuse renal, with ocular abnormalities	Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency	OMIM:249660
Peroxisome Biogenesis Disorder 5A (Zellweger)	Jaundice, Hepatomegaly, Hypospadias, Polycystic kidney dysplasia, Intrahepatic biliary dysgenesis...	OMIM:614866
Congenital Disorder Of Glycosylation, Type If	Renal cortical cysts	OMIM:609180
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Multiple glomerular cysts, Abnormal rena...	OMIM:137920
Nephrotic Syndrome, Type 3	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Diffuse mes...	OMIM:610725
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Increased C-peptide level, Decreased circulating free fatty acid level, Feeding dif...	ORPHA:324575
Alport Syndrome 3A, Autosomal Dominant	Hematuria, Azotemia, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement mem...	OMIM:104200
Mosaic Trisomy 1	Renal cortical cysts, Renal cyst, Hepatic agenesis, Penile hypospadias, Micropenis	ORPHA:1692
Nephrotic Syndrome, Type 21	Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis...	OMIM:618594
Orofaciodigital Syndrome I	Polycystic kidney dysplasia, Ovarian cyst, Proteinuria, Hepatic cysts, Hepatic fibrosis, Pancreat...	OMIM:311200
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Increased blood urea nitrogen, Hypercalcemia, Macroscopic hematuria, Proteinuria...	ORPHA:251004
Holocarboxylase Synthetase Deficiency	Anorexia, Organic aciduria, Hyperammonemia, Nausea and vomiting, Lethargy	ORPHA:79242
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Vomiting, Prolonged ne...	OMIM:257200
C Syndrome	Renal cortical cysts, Hepatomegaly, Cryptorchidism	OMIM:211750
Lymphatic Malformation 8	Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis	OMIM:618773
Fetal Encasement Syndrome	Increased urinary 8-oxo-7,8-dihydroguanosine level, Tetralogy of Fallot, Horseshoe kidney	OMIM:613630
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Diffuse pancreatic islet hyperplasia, Increased C-peptide level, Feeding difficulti...	ORPHA:276580
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Proteinuria, Reduced ...	OMIM:603278
Primary Pulmonary Hypoplasia	Abnormal pulmonary artery morphology, Secundum atrial septal defect, Dextrocardia, Ureteral stenosis	ORPHA:2257
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Dicarboxylic aciduria, Myoglobinuria, Polycystic kidney dyspla...	ORPHA:228308
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Macrovesicular hepatic steatosis, Acute hepatic steatosis, Cholestasis, Cholesterol gallstones, H...	ORPHA:209902
Cyclic Vomiting Syndrome	Anorexia, Abdominal pain, Vomiting, Nausea, Gastrointestinal dysmotility, Lethargy	OMIM:500007
Visceral Myopathy, Familial, With External Ophthalmoplegia	Abdominal distention, Gastroparesis, Abdominal pain, Spontaneous esophageal perforation, Malnutri...	OMIM:277320
Lymphatic Malformation 11	Lymphedema, Pedal edema	OMIM:619401
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Diarrhea, Abdominal pain, Constipation, Splenomegaly, ...	ORPHA:99745
Donohue Syndrome	Abdominal distention, Long penis, Cholestasis, Ovarian cyst, Hepatic fibrosis, Pancreatic islet-c...	OMIM:246200
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Abdominal distention, Hydroureter, Microcolon, Intestinal malrotation, Hypoperistalsis, Nausea an...	ORPHA:2241
Al Amyloidosis	Abdominal distention, Gastrointestinal hemorrhage, Abnormality of the kidney, Renal interstitial ...	ORPHA:85443
Scrub Typhus	Abdominal pain, Splenomegaly, Nausea and vomiting, Renal insufficiency, Lethargy	ORPHA:83317
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Cholestasis, Acute hepatic failure, Sple...	ORPHA:171
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Decreased circulating carnitine concentration, Hyperglycinuria, Organic aciduria, Hyperleucinemia...	OMIM:210210
Mitochondrial Complex I Deficiency, Nuclear Type 5	Hepatomegaly, Episodic vomiting, Vomiting, Dysphagia, Lethargy	OMIM:618226
Acrorenal Syndrome	Abnormal renal morphology, Renal hypoplasia/aplasia, Renal insufficiency	ORPHA:971
Nephrotic Syndrome, Type 22	Glomerular sclerosis, Nephrotic range proteinuria, Hypoproteinemia, Podocyte foot process effacem...	OMIM:619155
D-Bifunctional Protein Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Renal cyst, B...	OMIM:261515
Familial Hypoaldosteronism	Renal salt wasting, Hyperkalemia, Diarrhea, Increased circulating renin level, Hyponatremia, Feed...	ORPHA:427
Classic Galactosemia	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Diarrhea, Depres...	ORPHA:79239
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating hepatic transaminase concentration, Cholelithiasis, Poor suck, Hepatic failu...	OMIM:614886
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Elevated circulating creatine kinase concentration, Renal cyst, Renal insufficiency	OMIM:611773
Lead Poisoning	Anorexia, Abdominal distention, Decreased HDL cholesterol concentration, Depression, Abdominal pa...	ORPHA:330015
Denys-Drash Syndrome	Enlarged kidney, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Nephrotic syndrome, ...	OMIM:194080
Gaucher Disease Type 1	Anorexia, Cirrhosis, Hepatomegaly, Hematuria, Cholelithiasis, Abdominal pain, Biliary tract obstr...	ORPHA:77259
Bardet-Biedl Syndrome 19	Partial atrioventricular canal defect, Renal hypoplasia, Hydronephrosis, Atrial septal defect, Ve...	OMIM:615996
Developmental And Epileptic Encephalopathy 41	Nephrocalcinosis, Feeding difficulties, Lethargy	OMIM:617105
Joubert Syndrome 4	Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff...	OMIM:609583
Alg1-Cdg	Decreased liver function, Abnormality of the kidney, Chronic diarrhea, Nephrotic syndrome, Hypoal...	ORPHA:79327
Orofaciodigital Syndrome Type 1	Elevated circulating hepatic transaminase concentration, Multicystic kidney dysplasia, Renal insu...	ORPHA:2750
Congenital Enterocyte Heparan Sulfate Deficiency	Abdominal distention, Abnormal circulating protein concentration, Diarrhea, Hematochezia, Abnorma...	ORPHA:103910
Nephrotic Syndrome, Type 12	Hematuria, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Diffuse mesa...	OMIM:616892
Glycogen Storage Disease Xi	Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas...	OMIM:612933
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy	OMIM:613710
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrolithiasis, Neph...	OMIM:130650
Pseudotrisomy 13 Syndrome	Tricuspid atresia, Dextrocardia, Renal agenesis, Renal hypoplasia, Coarctation of aorta, Atrial s...	OMIM:264480
Joubert Syndrome 16	Nephronophthisis, Renal cyst	OMIM:614465
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy	OMIM:618683
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Polycystic kidney dysplasia, Renal cyst, Renal hypoplasia, Hepatic fibrosis	OMIM:614091
Hereditary Central Diabetes Insipidus	Diarrhea, Lethargy, Vomiting	ORPHA:30925
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hepatomegaly, Hypospadias, Intrahepatic biliary dysgenesis, Prolonged neonatal jaundice, Renal co...	OMIM:214100
Branchiootorenal Syndrome 1	Euthyroid goiter, Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal ...	OMIM:113650
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal tubular epithelial necrosis, Myoglobinuria, Red-brown urine, Elevated circulating long chai...	ORPHA:228302
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Focal segmental glomeruloscleros...	OMIM:617303
Coenzyme Q10 Deficiency, Primary, 6	Nephrolithiasis, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Proteinuria, St...	OMIM:614650
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia...	OMIM:208085
Cholera	Acute kidney injury, Abnormal blood ion concentration, Hypokalemia, Diarrhea, Abdominal pain, Hyp...	ORPHA:173
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Hypercalcemia, Proteinuria, Renal insufficiency, Hyperparathyroidism	ORPHA:2668
Mitochondrial Complex I Deficiency, Nuclear Type 4	Vomiting, Increased serum pyruvate, Lethargy	OMIM:618225
Diffuse Neonatal Hemangiomatosis	Hypercalcemia, Renal hypoplasia/aplasia, Renal insufficiency, Hepatomegaly	ORPHA:2123
Iga Nephropathy, Susceptibility To, 1	Hematuria, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chronic kidney disease	OMIM:161950
Multiple Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Glutaric aciduria, Hepatomegaly, Elevated circulating hepatic transamin...	ORPHA:26791
Proteinuria, Chronic Benign	Renal insufficiency, Proteinuria, Albuminuria	OMIM:618884
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal salt wasting, Elevated circulating creatinine concentration, Decreased glomerular filtratio...	OMIM:174000
Joubert Syndrome 39	Polycystic kidney dysplasia, Hypoplastic left heart	OMIM:619562
Trichohepatoenteric Syndrome 1	Cirrhosis, Jaundice, Hepatomegaly, Hypospadias, Galactosuria, Cholestasis, Renal cortical microcy...	OMIM:222470
2-Methylbutyryl-Coa Dehydrogenase Deficiency	2-ethylhydracylic aciduria, Lethargy	OMIM:610006
Nephrotic Syndrome, Type 8	Thin glomerular basement membrane, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Hypoa...	OMIM:615244
Cryoglobulinemic Vasculitis	Gastrointestinal infarctions, Gastrointestinal hemorrhage, Glomerulopathy, Hematuria, Hepatomegal...	ORPHA:91138
Galloway-Mowat Syndrome 8	Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal tubular atrophy, Protein...	OMIM:618349
Heart Defects, Congenital, And Other Congenital Anomalies	Perimembranous ventricular septal defect, Ureteral duplication, Transposition of the great arteri...	OMIM:600001
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Pancreatitis, Hypocalciuria, Depression, Parathormone-independent increased rena...	OMIM:600740
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Abdominal distention, Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Diarrh...	OMIM:256810
Thrombocytopenia-Absent Radius Syndrome	Renal malrotation, Ureteral duplication, Vesicoureteral reflux, Death in infancy, Hepatosplenomeg...	OMIM:274000
Senior-Loken Syndrome 1	Polyuria, Nephronophthisis, Elevated circulating creatinine concentration, Tubulointerstitial fib...	OMIM:266900
Lambert Syndrome	Intrahepatic biliary atresia, Jaundice, Cholestasis, Hypospadias	ORPHA:1296
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Nephrotic syndrome, Hepatosplenomegaly, Colonic eosinophilia, He...	OMIM:618999
Atypical Hemolytic Uremic Syndrome	Acute kidney injury, Hematuria, Proteinuria	ORPHA:2134
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Pulmonic stenosis, Perimembranous ventricular septal defect, Transposition of the great arteries	OMIM:617877
Drug-Induced Lupus Erythematosus	Increased blood urea nitrogen, Hematuria, Elevated circulating creatine kinase concentration, Ele...	ORPHA:231111
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	3-Methylglutaconic aciduria, Jaundice, Elevated circulating hepatic transaminase concentration, H...	OMIM:203700
Dengue Fever	Gastrointestinal hemorrhage, Hepatomegaly, Diarrhea, Abdominal pain, Hypoproteinemia, Nausea and ...	ORPHA:99828
N-Acetylglutamate Synthase Deficiency	Anorexia, Hyperglutamatemia, Hyperalaninemia, Vomiting, Hyperammonemia, Low plasma citrulline, Hy...	OMIM:237310
Nephronophthisis 4	Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage 5 chronic k...	OMIM:606966
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated circulating hepatic transaminase concentration, Hypospadias, Supernumerary nipple, Renal...	ORPHA:397715
Biotinidase Deficiency	Hepatomegaly, Diarrhea, Organic aciduria, Vomiting, Hyperammonemia, Splenomegaly, Lethargy, Feedi...	OMIM:253260
Carpenter Syndrome 1	Transposition of the great arteries, Hydroureter, Pulmonic stenosis, Hydronephrosis, Tetralogy of...	OMIM:201000
Prune Belly Syndrome	Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,...	ORPHA:2970
Wilson Disease	Portal fibrosis, Acute hepatic failure, Dysphagia, Splenomegaly, High nonceruloplasmin-bound seru...	OMIM:277900
Pagod Syndrome	Situs inversus totalis, Renal hypoplasia/aplasia, Abnormal aortic morphology, Pulmonary artery hy...	ORPHA:991
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Diarrhea, Asplenia, Nephrocalcinosi...	OMIM:240300
Thakker-Donnai Syndrome	Ventricular septal defect, Transposition of the great arteries, Hydronephrosis, Tetralogy of Fallot	ORPHA:1780
Castleman Disease	Intestinal obstruction, Abdominal distention, Jaundice, Hematuria, Elevated circulating C-reactiv...	ORPHA:160
Proximal 16P11.2 Microdeletion Syndrome	Abnormal aortic valve morphology, Dextrocardia, Abnormal heart morphology, Atrial septal defect, ...	ORPHA:261197
Qazi-Markouizos Syndrome	Abdominal distention, High, narrow palate, Cryptorchidism, Chronic constipation	ORPHA:3010
Laurence-Moon Syndrome	Hypoplasia of penis, Displacement of the urethral meatus, Congenital hepatic fibrosis, Cryptorchi...	ORPHA:2377
Isovaleric Acidemia	Vomiting, Hyperglycinuria, Lethargy, Elevated urinary isovalerylglycine level	OMIM:243500
Peroxisome Biogenesis Disorder 1B	Cirrhosis, Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis	OMIM:601539
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Abdominal pain, Hepatocellular carcinom...	ORPHA:465508
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Cyst of the ductus choledochus	OMIM:619480
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Increased blood urea nitrogen, Ureteropelvic junction obstruction...	OMIM:154230
Structural Heart Defects And Renal Anomalies Syndrome	Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Renal cyst, Te...	OMIM:617478
Hyperuricemia, Hprt-Related	Hyperuricemia, Hyperuricosuria, Nephrolithiasis, Renal insufficiency	OMIM:300323
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Stillbirth, Renal cyst, Renal hypoplasia, Neonatal death, Ureteral agenesis, Renal dysplasia	OMIM:236500
Weiss-Kruszka Syndrome	Bicuspid aortic valve, Dextrotransposition of the great arteries, Ventricular septal defect, Left...	OMIM:618619
Thyrocerebrorenal Syndrome	Euthyroid goiter, Nephritis, Renal insufficiency	ORPHA:3327
Combined Oxidative Phosphorylation Deficiency 53	Abdominal distention, Hepatomegaly	OMIM:619423
Cimdag Syndrome	Microvesicular hepatic steatosis, Hepatomegaly, Feeding difficulties, Cholelithiasis	OMIM:619273
Generalized Pseudohypoaldosteronism Type 1	Vomiting, Feeding difficulties in infancy, Cholelithiasis	ORPHA:171876
Ovarian Fibrothecoma	Abdominal distention, Ovarian fibroma, Abdominal pain, Abnormality of the ovary, Peritonitis	ORPHA:314478
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:261670
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Acute kidney injury, Hepatomegaly, Hemolytic-uremic syndrome, Hematuria, Methylmalonic acidemia, ...	OMIM:277400
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ele...	OMIM:212138
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Aminoaciduria, Feeding difficulties, Lethargy	OMIM:250620
Lysosomal Acid Lipase Deficiency	Decreased liver function, Hypertriglyceridemia, Steatorrhea, Elevated circulating hepatic transam...	ORPHA:275761
Holocarboxylase Synthetase Deficiency	Organic aciduria, Vomiting, Hyperammonemia, Lethargy, 3-hydroxyisovaleric aciduria, Elevated urin...	OMIM:253270
Ververi-Brady Syndrome	Transposition of the great arteries	OMIM:617982
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Dextrotransposition of the great arteries, Ventricular septal defect	OMIM:619995
Metachromatic Leukodystrophy	Urinary incontinence, Hemobilia, Bowel incontinence, Feeding difficulties, Neoplasm of the gallbl...	ORPHA:512
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Pulmonary artery atresia, Secundum atrial septal defect, Tetralogy of Fallot, Left ventricular hy...	OMIM:108900
Familial Thyroid Dyshormonogenesis	Abnormal circulating thyroglobulin concentration, Constipation, Prolonged neonatal jaundice, Neon...	ORPHA:95716
Immunodeficiency 91 And Hyperinflammation	Intermittent diarrhea, Hepatomegaly, Hemolytic-uremic syndrome, Elevated circulating hepatic tran...	OMIM:619644
Ovarian Hyperstimulation Syndrome	Abdominal distention, Hemorrhagic ovarian cyst, Abdominal pain, Enlarged polycystic ovaries, Asci...	ORPHA:64739
Aortic Arch Interruption	Transposition of the great arteries, Patent ductus arteriosus, Aortic valve atresia, Aortopulmona...	ORPHA:2299
Joubert Syndrome 20	Renal cyst	OMIM:614970
Lymphatic Malformation 7	Pulmonary edema, Atrial septal defect, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increa...	OMIM:617300
Meckel Syndrome, Type 10	Micropenis, Malformation of the hepatic ductal plate, Renal cyst, Hypospadias	OMIM:614175
Cystinuria	Hyperuricemia, Hematuria, Nephrolithiasis, Renal insufficiency	ORPHA:214
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Gastroesophageal reflux, Renal cyst, Abnormality of the ureter, Constip...	ORPHA:1834
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Lethargy	OMIM:617900
Orthostatic Hypotension 1	Retrograde ejaculation, Increased blood urea nitrogen, Hypomagnesemia, Nocturia, Elevated circula...	OMIM:223360
Primary Biliary Cholangitis	Gastrointestinal inflammation, Abdominal distention, Steatorrhea, Jaundice, Cirrhosis, Hepatomega...	ORPHA:186
Isolated Dandy-Walker Malformation	Tetralogy of Fallot	ORPHA:217
Junctional Epidermolysis Bullosa With Pyloric Atresia	Abdominal distention, Hematuria, Renal dysplasia, Aplasia of the bladder, Congenital pyloric atre...	ORPHA:79403
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cyst of the ductus choledochus, Hypoplastic nipples, Hydronephrosis, Renal dysplasia	ORPHA:480880
Ciliary Dyskinesia, Primary, 1	Situs inversus totalis	OMIM:244400
Necrotizing Enterocolitis	Abdominal distention, Abdominal rigidity, Diarrhea, Hypoactive bowel sounds, Bloody diarrhea, Vom...	ORPHA:391673
Fanconi Renotubular Syndrome 3	Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Elevated circulating creatinine ...	OMIM:615605
Pediatric Systemic Lupus Erythematosus	Abdominal distention, Hematuria, Diarrhea, Abdominal pain, Abnormality of the urinary system, Vom...	ORPHA:93552
Arima Syndrome	Polyuria, Cirrhosis, Hepatomegaly, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Poly...	OMIM:243910
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Abdominal distention, Ureteral duplication, Rectovaginal fistula, Anal atresia, Intestinal malrot...	OMIM:270420
Dent Disease	Tubulointerstitial fibrosis, Proximal tubulopathy, Nephrocalcinosis, Renal hypophosphatemia, Rena...	ORPHA:1652
Autosomal Recessive Dopa-Responsive Dystonia	Constipation, Bradykinesia, Feeding difficulties, Lethargy	ORPHA:101150
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Glomerulopathy, Jaundice, Elevated circulating hepatic transaminase concentr...	ORPHA:93111
Sepsis In Premature Infants	Decreased liver function, Abdominal distention, Jaundice, Hepatomegaly, Elevated circulating C-re...	ORPHA:90051
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Hypospadias, Gastroesophageal reflux, Recurrent urinary tract infections, Neurogenic bladder, Ves...	OMIM:191800
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased liver function, Hepatomegaly, Oroticaciduria, Elevated circulating hepatic transaminase...	ORPHA:415
Renal Coloboma Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins...	ORPHA:1475
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas...	ORPHA:2364
Mitochondrial Complex I Deficiency, Nuclear Type 9	Neonatal death, Feeding difficulties, Lethargy	OMIM:618232
Pontocerebellar Hypoplasia, Type 6	Poor suck, Feeding difficulties, Gastroesophageal reflux, Lethargy	OMIM:611523
Thyroid Dyshormonogenesis 1	Constipation, Goiter, Lethargy	OMIM:274400
Letterer-Siwe Disease	Abdominal distention, Jaundice, Hepatosplenomegaly	OMIM:246400
Joubert Syndrome 5	Nephronophthisis, Renal cortical cysts, Impaired renal concentrating ability, Reduced renal corti...	OMIM:610188
Familial Visceral Myopathy	Abdominal distention, Hydroureter, Vesicoureteral reflux, Hyperparathyroidism, Megacystis, Abdomi...	ORPHA:2604
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Coarctation of aorta, Atrioventricular canal defect, Micropenis, Dextrocardia	OMIM:618929
Achondrogenesis, Type Ib	Stillbirth, Abdominal distention	OMIM:600972
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic arch, Aortic valve atr...	ORPHA:1457
Idiopathic Intracranial Hypertension	Vomiting, Nausea, Lethargy, Depression	ORPHA:238624
Oculogastrointestinal Muscular Dystrophy	Abdominal distention, Gastroparesis, Intestinal pseudo-obstruction, Abnormal gastric mucosa morph...	ORPHA:1876
3-Hydroxy-3-Methylglutaric Aciduria	Anorexia, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Episod...	ORPHA:20
Trisomy X	Renal hypoplasia/aplasia, Depression, Abdominal pain, Constipation, Multicystic kidney dysplasia	ORPHA:3375
Nephronophthisis 1	Polyuria, Nephronophthisis, Hyposthenuria, Tubular basement membrane disintegration, Tubulointers...	OMIM:256100
Maternal Phenylketonuria	Abnormal renal morphology, Coarctation of aorta, Abnormal heart morphology, Tetralogy of Fallot, ...	ORPHA:2209
Relapsing Fever	Acute kidney injury, Jaundice, Hematuria, Elevated circulating hepatic transaminase concentration...	ORPHA:91547
Meningococcal Meningitis	Anorexia, Elevated circulating C-reactive protein concentration, Projectile vomiting, Renal insuf...	ORPHA:33475
Distal 16P11.2 Microdeletion Syndrome	Abnormality of the kidney, Hyperuricemia, Vesicoureteral reflux, Renal agenesis, Proteinuria, Chr...	ORPHA:261222
Mosaic Trisomy 9	Dextrocardia, Hypoplasia of penis, Abnormal heart valve morphology, Hydronephrosis, Multiple rena...	ORPHA:99776
Granulomatous Slack Skin	Acute kidney injury, Nephrocalcinosis, Hypercalcemia	ORPHA:33111
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ab...	ORPHA:2237
Czeizel-Losonci Syndrome	Dextrocardia, Congenital megaureter, Ureteral agenesis, Hydronephrosis, Abnormality of the urinar...	ORPHA:2437
Polyembryoma	Abnormal peritoneum morphology, Abdominal distention, Macroorchidism, Abdominal pain	ORPHA:180229
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy	OMIM:613002
Primary Hyperoxaluria Type 2	Recurrent urinary tract infections, Hyperoxaluria, Nephrolithiasis, Ureteral obstruction, Nephroc...	ORPHA:93599
Papillorenal Syndrome	Elevated circulating creatinine concentration, Hematuria, Horseshoe kidney, Vesicoureteral reflux...	OMIM:120330
Joubert Syndrome	Situs inversus totalis	ORPHA:475
Mitochondrial Complex I Deficiency, Nuclear Type 6	Vomiting, Lethargy, Left ventricular hypertrophy	OMIM:618228
Central Neurocytoma	Nausea and vomiting, Lethargy, Depression	ORPHA:73256
Hyperuricemic Nephropathy, Familial Juvenile, 3	Abnormal renal insterstitial morphology, Impaired renal concentrating ability, Renal insufficienc...	OMIM:614227
Anterior Cutaneous Nerve Entrapment Syndrome	Anorexia, Abdominal distention, Abdominal pain, Recurrent urinary tract infections, Nausea, Recur...	ORPHA:51890
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Porphyria Cutanea Tarda	Hepatic lobular inflammation, Elevated circulating hepatic transaminase concentration, Increased ...	ORPHA:101330
Oligomeganephronia	Abnormal nephron morphology, Elevated circulating creatinine concentration, Decreased glomerular ...	ORPHA:2260
Epidermolysis Bullosa Simplex With Pyloric Atresia	Abdominal distention, Glomerular sclerosis, Aplasia of the bladder, Elevated circulating creatine...	ORPHA:158684
Metachromatic Leukodystrophy, Late Infantile Form	Abdominal distention, Urinary incontinence, Feeding difficulties in infancy, Cholecystitis	ORPHA:309256
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Elevated circulating creatine kinase concentration, Stage 5 chronic kidney disease, Proteinuria, ...	OMIM:614455
Hyperoxaluria, Primary, Type Ii	Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Nephrocalcinosis, Renal insufficiency	OMIM:260000
Myoglobinuria, Autosomal Dominant	Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria	OMIM:160010
Isolated Cleft Lip	Situs inversus totalis	ORPHA:199302
Alport Syndrome	Thin glomerular basement membrane, Hematuria, Renal glomerular foam cells, Glomerular C3 depositi...	ORPHA:63
Meckel Syndrome 14	Abdominal distention, Hepatic fibrosis, Protuberant abdomen, Polycystic kidney dysplasia	OMIM:619879
17Q12 Microdeletion Syndrome	Renal hypoplasia/aplasia, Elevated circulating hepatic transaminase concentration, Renal insuffic...	ORPHA:261265
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Abdominal distention, Hepatomegaly, Protein-losing enteropathy, Pancreatic lymphangiectasis, High...	OMIM:235255
Nephronophthisis 11	Polyuria, Nephronophthisis, Tubular basement membrane disintegration, Renal tubular atrophy, Hepa...	OMIM:613550
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abdominal distention, Hepatomegaly, Protein-losing enteropathy, Abnormal renal morphology, Pancre...	ORPHA:1655
Febrile Infection-Related Epilepsy Syndrome	Lethargy	ORPHA:163703
Cystinosis	Hypokalemia, Nephropathy, Portal hypertension, Vomiting, Proteinuria, Malabsorption, Hypophosphat...	ORPHA:213
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Tetralogy of Fallot, Hypospadias, Hypoplasia of penis	ORPHA:1381
Eng-Strom Syndrome	Ventricular septal defect, Abnormal cardiac septum morphology	ORPHA:1937
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Melena, Diarrhea, Abdominal pain, Acute pancreatitis, Vomiting, Naus...	ORPHA:319218
Johanson-Blizzard Syndrome	Dextrocardia, Hypospadias, Hypoplasia of penis, Hydronephrosis, Abnormal cardiac septum morphology	ORPHA:2315
Cryoglobulinemia, Familial Mixed	Hematuria, Abnormal renal physiology, Proteinuria, Chronic kidney disease, Elevated circulating c...	OMIM:123550
Leiomyomatosis, Diffuse, With Alport Syndrome	Hematuria, Nephropathy, Vomiting, Constipation, Microscopic hematuria, Thickened glomerular basem...	OMIM:308940
Nephrogenic Diabetes Insipidus	Anorexia, Hydroureter, Hyposthenuria, Enuresis nocturna, Constipation, Functional abnormality of ...	ORPHA:223
Schimke Immuno-Osseous Dysplasia	Abdominal distention, Pancreatitis, Minimal change glomerulonephritis, Nephrotic range proteinuri...	ORPHA:1830
Fanconi Renotubular Syndrome 1	Low-molecular-weight proteinuria, Hypokalemia, Renal tubular dysfunction, Glycosuria, Hyperphosph...	OMIM:134600
Glycogen Storage Disease Xii	Jaundice, Hepatomegaly, Cholelithiasis, Elevated circulating alanine aminotransferase concentrati...	OMIM:611881
Alport Syndrome 2, Autosomal Recessive	Hematuria, Nephrotic syndrome, Thickened glomerular basement membrane, Nephritis, Proteinuria, St...	OMIM:203780
Pearson Marrow-Pancreas Syndrome	Anorexia, Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyp...	OMIM:557000
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Coarctation of aorta, Subvalvular aortic stenosis, Complete atrioventricular canal defect	OMIM:217085
Juvenile Nephropathic Cystinosis	Proximal tubulopathy, Hypophosphatemia, Elevated circulating creatinine concentration, Stage 5 ch...	ORPHA:411634
Thyroid Hemiagenesis	Constipation, Abdominal distention, Jaundice, Hyperparathyroidism	ORPHA:95719
Renpenning Syndrome	Hypospadias, Heterotaxy	ORPHA:3242
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Vomiting, Hyperglycinemia, Hepatomegaly, Lethargy	OMIM:614299
Dent Disease 1	Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ...	OMIM:300009
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hypospadias, Duplicated collecting system, Vesicoureteral reflux, Pulmonary artery atresia, Pulmo...	OMIM:301056
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Methylmalonic acidemia, Homocystinuria, Cystathioninuria, Hyperhomocystinemia, Cyst...	OMIM:277380
Kallmann Syndrome-Heart Disease Syndrome	Anomalous origin of left coronary artery from the pulmonary artery, Right aortic arch, Pulmonary ...	ORPHA:2326
8P Inverted Duplication/Deletion Syndrome	Dextrocardia, Hydronephrosis, Tetralogy of Fallot, Abnormal heart morphology, Micropenis, Abnorma...	ORPHA:96092
Syndromic Diarrhea	Polycystic kidney dysplasia, Renal hypoplasia, Abnormal heart morphology, Tetralogy of Fallot, Pa...	ORPHA:84064
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pancreatic islet-cell hyperplasia, Lethargy	ORPHA:276608
Wolcott-Rallison Syndrome	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hyperbilirubinem...	ORPHA:1667
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abdominal distention, Hepatomegaly, Gastroesophageal reflux, Chronic diarrhea, Cholestasis, Vomiting	OMIM:620233
Say Syndrome	Proximal renal tubular acidosis, Cystic renal dysplasia	OMIM:181180
Fetal Minoxidil Syndrome	Ventricular septal defect, Umbilical hernia	ORPHA:1918
Classic Glucose Transporter Type 1 Deficiency Syndrome	Lethargy	ORPHA:71277
Hydrocephaly-Low Insertion Umbilicus Syndrome	Anomalous pulmonary venous return, Abnormality of the urinary system, Patent ductus arteriosus, T...	ORPHA:2184
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis, Gastroesophageal reflux, Splenic cyst, Ovarian cyst, ...	OMIM:618188
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Renal insufficiency, Hyperuricemia, Uric acid nephrolithiasis, Crystalluria,...	ORPHA:411543
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplasia of right ventricle, Transposition of the great arteries, Ureteral duplication, Double ...	ORPHA:2255
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru...	OMIM:610805
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Coarctation of aorta, Mitral valve prolapse, Bicuspid aortic valve, Atrial septal defect, Ventric...	ORPHA:371428
Pseudo-Torch Syndrome 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lethargy, Abnormal renal c...	OMIM:617397
North American Indian Childhood Cirrhosis	Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension	OMIM:604901
Pyruvate Dehydrogenase E1-Alpha Deficiency	Increased serum pyruvate, Hyperalaninemia, Lethargy	OMIM:312170
Phelan-Mcdermid Syndrome	Abnormality of the kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Patent ductus arte...	OMIM:606232
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	3-Methylglutaconic aciduria, Renal tubular acidosis, Hyperalaninemia, Elevated circulating creati...	ORPHA:324525
Cockayne Syndrome Type 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Diarrhea, Increased blood ...	ORPHA:90321
Spondylocostal Dysostosis 1, Autosomal Recessive	Abdominal distention, Protuberant abdomen	OMIM:277300
Thiamine-Responsive Megaloblastic Anemia Syndrome	Anorexia, Diarrhea, Lethargy	ORPHA:49827
Cranioectodermal Dysplasia 2	Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cholangit...	OMIM:613610
Galloway-Mowat Syndrome 2, X-Linked	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Feedin...	OMIM:301006
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Depression, Abnormal circulating thyroglobulin conce...	ORPHA:99832
Marden-Walker Syndrome	Renal hypoplasia, Dextrocardia, Micropenis, Hypospadias	OMIM:248700
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:617866
Alpha-Thalassemia	Jaundice, Cholelithiasis, Hepatosplenomegaly, Splenomegaly, Hypersplenism	ORPHA:846
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hypocalcemia, Hy...	ORPHA:26793
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Peripheral Primitive Neuroectodermal Tumor	Anorexia, Abdominal distention, Pelvic mass, Neoplasm of the pancreas, Jaundice, Ovarian neoplasm...	ORPHA:370348
Pauci-Immune Glomerulonephritis	Acute kidney injury, Pancreatitis, Decreased glomerular filtration rate, Glomerular sclerosis, Ab...	ORPHA:93126
Fanconi Renotubular Syndrome 2	Decreased glomerular filtration rate, Renal phosphate wasting, Generalized aminoaciduria, Hyperca...	OMIM:613388
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, E...	OMIM:619525
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly	ORPHA:79128
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Transposition of the great arteries, Pulmonic stenosis, Myocardial fibrosis, Atrial septal defect...	OMIM:253800
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hyperuricemia	ORPHA:3222
Transcobalamin Ii Deficiency	Hepatomegaly, Hyperhomocystinemia, Diarrhea, Vomiting, Methylmalonic aciduria, Lethargy	OMIM:275350
Hypomagnesemia 3, Renal	Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Elevated circulating cre...	OMIM:248250
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Renal cortical cysts, Vesicoureteral reflux	OMIM:618548
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Biliary atresia	ORPHA:565899
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Renal cyst, Congenital hepatic fibrosis, Multicystic kidney dysplasia	ORPHA:2031
Fructose-1,6-Bisphosphatase Deficiency	Increased urinary glycerol, Hepatomegaly, Lethargy	OMIM:229700
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis	OMIM:613091
Dopamine Beta-Hydroxylase Deficiency	Diarrhea, Elevated urinary dopamine level, Vomiting, Increased blood urea nitrogen, Nocturia, Ele...	ORPHA:230
Genetic Recurrent Myoglobinuria	Hyperkalemia, Acute kidney injury, Exercise-induced myoglobinuria, Elevated circulating hepatic t...	ORPHA:99845
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Cirrhosis, Elevated circulating hepatic transaminase concentration, Gas...	OMIM:613658
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased serum pyruvate, Hepatomegaly, Feeding difficulties, Lethargy	OMIM:604377
Senior-Loken Syndrome 9	Nephronophthisis, Cholestasis, Hepatic fibrosis, Stage 5 chronic kidney disease, Tubulointerstiti...	OMIM:616629
Joubert Syndrome With Hepatic Defect	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Renal insuffici...	ORPHA:1454
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hyperhomocystinemia, Homocystinuria, Hypomethioninemia, Methylmalonic aci...	OMIM:277410
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatitis, Hypercalciuria, Testicular neoplasm, Renal hamartoma, Episodic abdominal pain, Neph...	ORPHA:99880
Atrial Septal Defect 1	Bicuspid aortic valve, Atrial septal dilatation, Aortic valve stenosis, Tetralogy of Fallot with ...	OMIM:108800
Hypogonadism-Cataract Syndrome	Infertility, Male hypogonadism, Hypogonadism	OMIM:240950
3-Methylglutaconic Aciduria Type 7	3-Methylglutaconic aciduria, Elevated circulating hepatic transaminase concentration, Renal insuf...	ORPHA:445038
Combined Immunodeficiency-Enteropathy Spectrum	Abdominal distention, Bloody diarrhea, Peritoneal abscess, Hypoplasia of the thymus, Abnormal duc...	ORPHA:436252
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Diarrhea, Decreased testicular size, Poor appetite, Splenomegaly, Decreased serum z...	OMIM:201100
Metachromatic Leukodystrophy, Juvenile Form	Abdominal distention, Urinary incontinence, Cholecystitis	ORPHA:309263
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatomegaly, Unilateral renal agenesis, Cholestasis, Biliary cirrhosis, Hydronephrosis, Elevated...	OMIM:620454
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Chronic tubulointerstitial nephritis, Hepatomegaly, Elevated circulating creatinine concentration...	OMIM:614376
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Lathosterolosis	Bilobate gallbladder, Intrahepatic cholestasis, Elevated circulating alanine aminotransferase con...	OMIM:607330
Myh9-Related Disease	Elevated circulating hepatic transaminase concentration, Renal insufficiency, Nephritis, Proteinu...	ORPHA:182050
Transketolase Deficiency	Increased level of ribose in urine, Patent foramen ovale, Renal cyst, Abnormal coronary artery co...	ORPHA:488618
Chromosome 15Q25 Deletion Syndrome	Dextrocardia, Coronary artery fistula, Dilatation of renal calices, Ventricular septal defect, Ab...	OMIM:614294
Metachromatic Leukodystrophy, Adult Form	Abdominal distention, Urinary incontinence, Bowel incontinence, Neoplasm of the gallbladder, Chol...	ORPHA:309271
Distal Duplication 5Q	Dextrocardia, Ventricular septal defect, Hypospadias	ORPHA:96097
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Feeding difficulties in infancy, Cholelithiasis	OMIM:618775
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Abdominal pain, Intermittent jaundice, Portal vein thrombosis, Splenomegaly	ORPHA:3202
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Abdominal pain, Prolonged neonatal jaundice, Splenomegaly	ORPHA:288
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Nephronophthisis, Hepatomegaly, Cholestasis, Splenomegaly, Chronic kidney disease, Hepatic fibros...	OMIM:615630
Epidermal Nevus Syndrome	Polycystic kidney dysplasia	ORPHA:35125
Adams-Oliver Syndrome 4	Atrial septal defect, Ventricular septal defect, Umbilical hernia	OMIM:615297
Genetic Transient Congenital Hypothyroidism	Increased circulating thyroglobulin concentration, Thyroid hypoplasia, Constipation, Prolonged ne...	ORPHA:226316
Porphyria Variegata	Elevated urinary delta-aminolevulinic acid, Elevated circulating hepatic transaminase concentrati...	ORPHA:79473
Variant Abeta2M Amyloidosis	Gastrointestinal infarctions, Abnormal salivary gland morphology, Renal amyloidosis, Chronic kidn...	ORPHA:314652
Wild Type Attr Amyloidosis	Intermittent diarrhea, Hepatomegaly, Renal insufficiency, Chronic diarrhea, Bowel incontinence, N...	ORPHA:330001
Nephrotic Syndrome, Type 11	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ...	OMIM:616730
Parathyroid Carcinoma	Parathyroid carcinoma, Pancreatitis, Hypercalciuria, Testicular neoplasm, Renal hamartoma, Episod...	ORPHA:143
Cranioacrofacial Syndrome	Pulmonic stenosis, Ventricular septal defect	OMIM:122850
Isolated Complex I Deficiency	Hepatomegaly, Proximal tubulopathy, Increased serum pyruvate, Vomiting, Feeding difficulties, Let...	ORPHA:2609
Senior-Loken Syndrome 4	Polyuria, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:606996
H Syndrome	Hypertriglyceridemia, Abnormality of the kidney, Enlarged kidney, Decreased testicular size, Hepa...	ORPHA:168569
Genitopalatocardiac Syndrome	Abnormality of the gallbladder, Hypospadias, Abnormal mesentery morphology, Cryptorchidism, Multi...	ORPHA:2075
Susac Syndrome	Nausea and vomiting, Apathy, Lethargy	ORPHA:838
Joubert Syndrome 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst	OMIM:611560
Mody	Abnormality of the kidney, Hepatocellular adenoma, Abnormal circulating C-peptide concentration, ...	ORPHA:552
Legionnaires Disease	Anorexia, Jaundice, Hematuria, Pancreatitis, Diarrhea, Abdominal pain, Hepatitis, Hyponatremia, P...	ORPHA:549
Acquired Ichthyosis	Renal insufficiency	ORPHA:454
Frasier Syndrome	Glomerulopathy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Nephroblasto...	ORPHA:347
Sialuria	Hepatomegaly, Increased level of N-acetylneuraminic acid in urine, Hypoplastic nipples, Splenomeg...	OMIM:269921
Multicentric Carpotarsal Osteolysis Syndrome	Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Bilateral renal atrophy	OMIM:166300
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Hematuria, Proteinuria, Renal insufficiency	ORPHA:375
Dysostosis Multiplex, Ain-Naz Type	Abdominal distention	OMIM:619345
Fraser Syndrome 2	Abdominal distention, Unilateral renal agenesis, Bilateral renal agenesis, Aplasia of the bladder...	OMIM:617666
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Glomerular sclerosis, Rena...	OMIM:619487
Yuan-Harel-Lupski Syndrome	Bicuspid aortic valve, Ventricular septal defect, Aortic root aneurysm, Double outlet right ventr...	OMIM:616652
Diaphanospondylodysostosis	Multiple renal cysts	ORPHA:66637
Distal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Hypokalem...	ORPHA:18
Cardioacrofacial Dysplasia 1	Atrioventricular canal defect, Complete atrioventricular canal defect	OMIM:619142
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Hypocalcemia, Poor suck, Cholestasis, Chronic hepatic failure, Left ventricul...	ORPHA:746
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Glomerulonephritis, Chronic kidney disease	ORPHA:2172
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect	OMIM:178370
Vater/Vacterl Association	Transposition of the great arteries, Ectopic kidney, Hypospadias, Patent ductus arteriosus, Vesic...	OMIM:192350
Alg9-Cdg	Enlarged kidney, Hepatomegaly, Gastroesophageal reflux, Periportal fibrosis, Diarrhea, Hypoplasia...	ORPHA:79328
Neurooculorenal Syndrome	Unilateral renal agenesis, Dextrocardia, Tetralogy of Fallot with pulmonary stenosis, Bilateral r...	OMIM:620305
Floating-Harbor Syndrome	Atrial septal defect, Mesocardia, Hypospadias, Polycystic kidney dysplasia, Renal cyst, Persisten...	ORPHA:2044
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Elevated circulatin...	ORPHA:368
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abdominal distention, Hepatomegaly, Splenomegaly	OMIM:602557
Biliary, Renal, Neurologic, And Skeletal Syndrome	Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosis, Prolonged neonatal jaundice, D...	OMIM:619534
Hypophosphatemic Rickets, X-Linked Recessive	Low-molecular-weight proteinuria, Hypophosphatemic rickets, Renal phosphate wasting, Hypercalciur...	OMIM:300554
Reni Syndrome	Hypertriglyceridemia, Focal segmental glomerulosclerosis, Podocyte foot process effacement, Nephr...	OMIM:617575
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Acute kidney injury, Elevated circulating creatine kinase concentration, Myoglobinuria	OMIM:268200
Folinic Acid-Responsive Seizures	Abdominal distention	ORPHA:79097
Pentalogy Of Cantrell	Hypospadias, Renal dysplasia, Renal agenesis, Absent gallbladder, Polysplenia	ORPHA:1335
Syndromic Recessive X-Linked Ichthyosis	Testicular seminoma, Cryptorchidism, Renal insufficiency, Unilateral renal agenesis	ORPHA:281090
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Prolactin Deficiency, Isolated	Infertility, Irregular menstruation	OMIM:264110
Isolated Thyroid-Stimulating Hormone Deficiency	Depression, Macroorchidism, Abnormal circulating thyroglobulin concentration, Pituitary hypothyro...	ORPHA:90674
Bardet-Biedl Syndrome 6	Hypospadias, Renal cyst	OMIM:605231
Late-Onset Isolated Acth Deficiency	Anorexia, Hypoparathyroidism, Hyperuricemia, Diarrhea, Abdominal pain, Adrenocorticotropic hormon...	ORPHA:199299
Verheij Syndrome	Truncus arteriosus, Renal cyst, Renal agenesis, Renal hypoplasia, Ventricular septal defect	OMIM:615583
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Nephrotic syndrome, Hepatosplenomegaly, Proteinuria, Recurrent gastroenteritis, ...	ORPHA:505248
Birk-Landau-Perez Syndrome	Hyperkalemia, Stage 3 chronic kidney disease, Renal hypoplasia, Hyperechogenic kidneys, Feeding d...	OMIM:617595
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Hypospadias, Nephropathy, Cryptorchidism, Nephroblastoma, Streak ovary, Renal insufficiency	OMIM:194072
Spinal Muscular Atrophy, Type I	Atrial septal defect, Ventricular septal defect	OMIM:253300
Bare Lymphocyte Syndrome, Type Ii	Cholangitis, Recurrent urinary tract infections, Viral hepatitis, Biliary tract abnormality, Mala...	OMIM:209920
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Decreased testicular size, Cryptorchidism, Micropenis, Cholelithiasis	OMIM:300534
Evans Syndrome	Jaundice, Lethargy	ORPHA:1959
Currarino Syndrome	Abdominal distention, Perianal abscess, Urinary incontinence, Anal stenosis, Rectovaginal fistula...	OMIM:176450
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin concentration, Thyroid hypoplasia, Constipation, Prolonged ne...	ORPHA:90673
Heart Defects-Limb Shortening Syndrome	Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu...	ORPHA:1354
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Hypercalciuria, Recurrent urinary tract infections, Nephrolithiasis, Hypermagnesiuria, Renal calc...	OMIM:248190
Systemic Capillary Leak Syndrome	Abnormal renal tubule morphology, Pancreatitis, Diarrhea, Abdominal pain, Oliguria, Renal insuffi...	ORPHA:188
Galloway-Mowat Syndrome 5	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta...	OMIM:617731
Renpenning Syndrome 1	Situs inversus totalis, Hypospadias, Phimosis, Renal hypoplasia, Tetralogy of Fallot, Atrial sept...	OMIM:309500
Benign Samaritan Congenital Myopathy	Lethargy	ORPHA:324581
Galloway-Mowat Syndrome 4	Focal segmental glomerulosclerosis, Congenital nephrotic syndrome, Nephrotic syndrome, Diffuse me...	OMIM:617730
Mckusick-Kaufman Syndrome	Hydroureter, Vesicovaginal fistula, Polycystic kidney dysplasia, Hydronephrosis, Cryptorchidism	OMIM:236700
Tuberous Sclerosis Complex	Abnormality of the kidney, Pheochromocytoma, Polycystic kidney dysplasia, Renal cell carcinoma, R...	ORPHA:805
Mckusick-Kaufman Syndrome	Renal hypoplasia/aplasia, Patent ductus arteriosus, Glandular hypospadias, Urogenital sinus anoma...	ORPHA:2473
Triosephosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Prolonged neonatal jaundice, Splenomegaly, Cholecystitis	OMIM:615512
Multifocal Atrial Tachycardia	Cryptorchidism, Feeding difficulties in infancy, Lethargy	ORPHA:3282
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Abdominal distention, Anuria, Fetal megacystis, Renal cortical hyperechogenicity, Peritonitis, Me...	OMIM:619351
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Hepatomegaly, Hematuria, Diarrhea, Abdominal pain, Proteinuria, Splenomegaly, Nau...	ORPHA:36412
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Glomerulopathy, Jaundice, Hemolytic-uremic syndrome, Methylmalonic acidemia, Hyperhomocystinemia,...	ORPHA:79282
Frasier Syndrome	Focal segmental glomerulosclerosis, Nephrotic syndrome, Ovarian gonadoblastoma, Proteinuria, Stag...	OMIM:136680
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Diarrhea, Hyperbili...	ORPHA:542323
Hypouricemia, Renal, 2	Hypouricemia, Nephrolithiasis	OMIM:612076
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Diarrhea, Abdominal pain, Nausea, Renal ...	ORPHA:83313
Hypomagnesemia 2, Renal	Hypokalemia, Hypocalciuria, Hypomagnesemia, Renal insufficiency, Renal magnesium wasting	OMIM:154020
Achondrogenesis Type 1A	Abdominal distention	ORPHA:93299
Meckel Syndrome, Type 1	Accessory spleen, Polycystic kidney dysplasia, Asplenia, Bile duct proliferation, Abnormality of ...	OMIM:249000
Amyloidosis, Finnish Type	Cardiac amyloidosis, Cardiomyopathy, Nephrotic syndrome, Urolithiasis, Renal glomerular amyloid d...	OMIM:105120
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Acute kidney injury, Exercise-induced myoglobinuria, Elevated circulating hepatic transaminase co...	ORPHA:284426
Distal Deletion 12Q	Annular pancreas, Ectopic kidney, Biliary atresia, Polycystic kidney dysplasia, Vesicoureteral re...	ORPHA:96149
Knobloch Syndrome	Dextrocardia, Vesicoureteral reflux, Bifid ureter, Patent ductus arteriosus	ORPHA:1571
Leukoencephalopathy With Vanishing White Matter 1	Lethargy	OMIM:603896
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Precocious puberty with Sertoli cell tumor, Abdominal pain, Bloody diar...	OMIM:175200
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney, Hydrocele testis	ORPHA:276280
Glycogen Storage Disease Ic	Hepatomegaly, Hematuria, Decreased glomerular filtration rate, Chronic pancreatitis, Hyperuricemi...	OMIM:232240
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Hepatomegaly, Abnormal pancreas morphology, Congenital meg...	ORPHA:116
Multiple Endocrine Neoplasia Type 2	Abdominal distention, Elevated urinary catecholamine level, Elevated urinary vanillylmandelic aci...	ORPHA:653
Congenital Disorder Of Glycosylation, Type Ig	Hypospadias, Hypocalcemia, Poor suck, Feeding difficulties, Cryptorchidism, Micropenis, Lethargy	OMIM:607143
Peroxisome Biogenesis Disorder 13A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Jaundice, Dicarboxylic aciduria, ...	OMIM:614887
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatomegaly, Elevated circulating C-reactive protein concentration, Recurrent urinary tract infe...	OMIM:615559
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Renal hypoplasia, Unilateral renal agenesis, Chronic kidney disease	OMIM:617661
Chime Syndrome	Abnormality of the kidney, Pulmonary valve atresia, Transposition of the great arteries, Hydronep...	ORPHA:3474
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Transposition of the great arteries, Duplicated collecting system, Pulmonary artery stenosis, Ure...	OMIM:280000
Isolated Sedoheptulokinase Deficiency	Abnormal renal tubule morphology, Cholestatic liver disease, Steatorrhea, Cholestasis, Portal hyp...	ORPHA:440713
Muckle-Wells Syndrome	Renal insufficiency, Renal amyloidosis, Elevated circulating C-reactive protein concentration	OMIM:191900
Ventriculomegaly With Cystic Kidney Disease	Vascular dilatation, Tubular luminal dilatation, Hyperechogenic kidneys, Ventricular septal defec...	OMIM:219730
Congenital Disorder Of Glycosylation, Type Ia	Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Diarrhea, Pro...	OMIM:212065
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Annular pancreas, Hydronephrosis, Asplenia	ORPHA:210122
Shigellosis	Anorexia, Acute kidney injury, Urethritis, Hemolytic-uremic syndrome, Acute colitis, Abdominal pa...	ORPHA:810
Biliary Cirrhosis, Primary, 1	Biliary cirrhosis	OMIM:109720
Celiac Disease, Susceptibility To, 1	Abdominal distention, Steatorrhea, Elevated circulating hepatic transaminase concentration, Diarr...	OMIM:212750
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Nephritis, Glomerular bas...	OMIM:609057
Vacterl/Vater Association	Abnormality of the gallbladder, Ectopic kidney, Hypospadias, Hypoplasia of penis, Renal agenesis,...	ORPHA:887
Joubert Syndrome 35	Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia, Renal fibrosis	OMIM:618161
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Cholelithiasis, Constipation, Hydronephrosis, Male urethral meatus stenosis	ORPHA:464738
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Decreased serum cr...	OMIM:300539
Imerslund-Grasbeck Syndrome 2	Diarrhea, Recurrent urinary tract infections, Proteinuria, Renal insufficiency, Moderate albuminuria	OMIM:618882
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement memb...	OMIM:301050
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis, Hydranencephaly	OMIM:601355
15Q11.2 Microdeletion Syndrome	Total anomalous pulmonary venous return, Coarctation of aorta, Abnormal heart morphology, Tetralo...	ORPHA:261183
Cerebrotendinous Xanthomatosis	Diarrhea, Cholelithiasis, Pseudobulbar paralysis	OMIM:213700
Senior-Loken Syndrome 3	Polyuria, Nephronophthisis, Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts	OMIM:606995
22Q11.2 Deletion Syndrome	Atrial septal defect, Tricuspid atresia, Abnormal aortic valve morphology, Hypospadias, Abnormal ...	ORPHA:567
X-Linked Intellectual Disability, Nascimento Type	Hypospadias, Patent foramen ovale, Vesicoureteral reflux, Abnormal vena cava morphology, Peripher...	ORPHA:163956
Bor Syndrome	Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst...	ORPHA:107
Autosomal Dominant Progressive External Ophthalmoplegia	Bradykinesia, Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, G...	ORPHA:254892
Microscopic Polyangiitis	Gastrointestinal infarctions, Gastrointestinal hemorrhage, Glomerulopathy, Hematuria, Pancreatiti...	ORPHA:727
Down Syndrome	Atrioventricular canal defect, Partial anomalous pulmonary venous return, Patent foramen ovale, E...	OMIM:190685
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Mucopolysacchariduria, Splenomegaly, Cardiomegaly, Protuberant abd...	OMIM:252500
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Polycystic kidney dysplasia, Hepatic fibrosis, Pancreatic fibrosis, Micropenis	OMIM:263520
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Polycystic kidney dysplasia, Atrial septal defect, Micropenis	OMIM:616546
Trichohepatoneurodevelopmental Syndrome	Decreased liver function, Steatorrhea, Hepatomegaly, Gastroesophageal reflux, Cholelithiasis, Chr...	OMIM:618268
Mesoaxial Hexadactyly And Cardiac Malformation	Pulmonic stenosis, Atrial septal defect, Ventricular septal defect	OMIM:249670
Msh3-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the rectum, Colorectal polyposis, Stomach cancer, Ovarian dermoid cyst, Renal cyst, C...	ORPHA:480536
Leprechaunism	Abdominal distention, Enlarged kidney, Hepatomegaly, Hypokalemia, Long penis, Hypercalciuria, Inc...	ORPHA:508
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Elevated circulating acylcarnitine concentration, Abnormal circulating creatine kinase concentrat...	OMIM:615838
Chromosome 1P36 Deletion Syndrome, Proximal	Atrial septal defect, Partial anomalous pulmonary venous return, Coronary artery fistula, Patent ...	OMIM:619343
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Tubulointerstitial fibrosis, Glycosuria, Proteinuria, Hypophosphatemia,...	OMIM:618913
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Abdominal pain, Hyperlipidemia, Focal segmental glomeruloscler...	ORPHA:567546
15q26 overgrowth syndrome	Abnormality of the kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Renal agenesis, Hy...	DECIPHER:81
Caudal Regression Syndrome	Ureteral duplication, Ectopic kidney, Vesicoureteral reflux, Bowel incontinence, Abnormality of t...	ORPHA:3027
Thyroid Ectopia	Abdominal distention, Jaundice, Constipation, Dysphagia, Lingual thyroid, Ectopic thyroid	ORPHA:95712
Zellweger Syndrome	Hepatomegaly, Jaundice, Hypospadias, Hydronephrosis, Malabsorption, Cryptorchidism, Multicystic k...	ORPHA:912
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Neonatal death, Ventricular septal defect	OMIM:615524
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Patent ductus arteriosus, At...	OMIM:612561
Feingold Syndrome Type 2	Ventricular septal defect	ORPHA:391646
Rhyns Syndrome	Decreased response to growth hormone stimulation test, Nephronophthisis, Anterior hypopituitarism...	OMIM:602152
Gaucher Disease, Type Ii	Hepatomegaly, Gastroesophageal reflux, Splenomegaly, Dysphagia, Feeding difficulties, Protuberant...	OMIM:230900
Neuroblastoma	Abdominal distention, Elevated urinary catecholamine level, Elevated urinary vanillylmandelic aci...	ORPHA:635
Primary Hyperoxaluria Type 1	Calcinosis, Hematuria, Decreased glomerular filtration rate, Recurrent urinary tract infections, ...	ORPHA:93598
Hajdu-Cheney Syndrome	Hypospadias, Polycystic kidney dysplasia, Renal cyst, Patent ductus arteriosus, Ventricular septa...	OMIM:102500
Schimke Immunoosseous Dysplasia	Renal insufficiency, Focal segmental glomerulosclerosis, Bilateral cryptorchidism, Nephrotic synd...	OMIM:242900
Joubert Syndrome With Ocular Defect	Dextrocardia	ORPHA:220493
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Splenomegaly, Pink urine	OMIM:263700
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Ectopic kidney, Unilateral renal agenesis, Renal insufficiency, Horseshoe kidney, Vesicoureteral ...	OMIM:617641
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hematuria, Unilateral renal dysplasia, Hypoparathyroidism, Nephrotic syndrome, Thickened glomerul...	OMIM:146255
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasia of the pancreas...	ORPHA:456312
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Splenomegaly, Hypocholesterolemia, Hepatic steatosis, Hypospadias, Fee...	OMIM:270400
Giant Cell Arteritis	Hematuria, Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect ...	ORPHA:397
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Hydronephrosis, Displacement of ...	ORPHA:2973
Hypothyroidism, Congenital, Nongoitrous, 2	Abdominal distention, Increased circulating thyroglobulin concentration, Hyperbilirubinemia, Thyr...	OMIM:218700
Fabry Disease	Urinary mulberry cells, Diarrhea, Abdominal pain, Vomiting, Nausea, Left ventricular hypertrophy,...	OMIM:301500
Familial Adenomatous Polyposis 4	Gastric adenocarcinoma, Renal cyst, Ovarian cyst, Adenomatous colonic polyposis, Duodenal polyposis	OMIM:617100
Glycerol Kinase Deficiency	Hypertriglyceridemia, Hyperglycerolemia, Chronic pancreatitis, Episodic vomiting, Increased urina...	OMIM:307030
Ogden Syndrome	Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Cardiomegaly,...	OMIM:300855
Pearson Syndrome	Steatorrhea, Elevated circulating hepatic transaminase concentration, Chronic diarrhea, Dysphagia...	ORPHA:699
Idiopathic Hypereosinophilic Syndrome	Abdominal distention, Elevated circulating hepatic transaminase concentration, Portal fibrosis, C...	ORPHA:3260
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Nephropathy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Dysphagia, P...	OMIM:254900
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hypospadias, Microphallus, Hyperechogenic kidneys, Cryptorchidism	OMIM:612651
Carpenter Syndrome 2	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Patent ductus arterios...	OMIM:614976
Nemaline Myopathy 9	Ventricular septal defect	OMIM:615731
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Abnormal localization of kidney, Ventricular septal defect, Abnormal cardiac septum morphology	ORPHA:83473
Pyruvate Dehydrogenase Deficiency	Feeding difficulties in infancy, Lethargy	ORPHA:765
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Hyperhomocystinemia, Homocystinuria, Cystathioninemia, Hypomethioninemia, Lethargy, Feeding diffi...	ORPHA:395
Transcobalamin Deficiency	Acute kidney injury, Methylmalonic aciduria	ORPHA:859
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level, Nephrocalcinosis, Left ventricular hypertrophy, A...	ORPHA:320
Liddle Syndrome 1	Decreased circulating renin level, Renal insufficiency, Hypokalemia	OMIM:177200
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia...	OMIM:613090
Fliedner-Zweier Syndrome	Unilateral renal agenesis, Hypoplastic aortic arch, Hydronephrosis, Bicuspid aortic valve, Ventri...	OMIM:620511
Distal Deletion 15Q	Abnormal aortic arch morphology, Hypospadias, Multicystic kidney dysplasia, Patent ductus arterio...	ORPHA:1596
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Renal salt wasting, Polyuria, Decreased glomerular filtration rate, Hyperchloriduria, Hypokalemia...	OMIM:602522
Pseudo-Torch Syndrome 1	Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:251290
Diets-Jongmans Syndrome	Ventricular septal defect, Hypospadias, Heterotaxy, Interrupted inferior vena cava with azygous c...	OMIM:618846
Insulinoma	Primary hyperparathyroidism, Lethargy, Abnormality of the pancreatic islet cells, Pituitary prola...	ORPHA:97279
Nephrolithiasis, Calcium Oxalate, 1	Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstruction, Calcium oxalate nephrolit...	OMIM:167030
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Ethylmalonic aciduria, Feeding difficulties, Lethargy	OMIM:201470
Marburg Hemorrhagic Fever	Anorexia, Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Hypoka...	ORPHA:99826
Familial Mediterranean Fever	Hepatomegaly, Elevated circulating C-reactive protein concentration, Diarrhea, Crohn's disease, A...	OMIM:249100
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Hepatic cysts, Stage 5 chronic kidney disease	OMIM:613819
Acrorenal-Mandibular Syndrome	Polycystic kidney dysplasia, Aplasia of the bladder, Absent nipple, Abnormality of the ureter, Re...	OMIM:200980
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal circulating cop...	OMIM:620306
Sickle Cell Anemia	Jaundice, Cholelithiasis, Splenic infarction, Abnormality of the spleen, Pigment gallstones	ORPHA:232
Aapoaiv Amyloidosis	Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Hyp...	ORPHA:439232
Cystinosis, Nephropathic	Generalized aminoaciduria, Dysphagia, Splenomegaly, Hypophosphatemia, Stage 5 chronic kidney dise...	OMIM:219800
Joubert Syndrome 9	Stage 5 chronic kidney disease, Hepatic fibrosis	OMIM:612285
Trisomy 8P	Annular pancreas, Constipation, Nephrocalcinosis, Hydronephrosis, Fetal pyelectasis, Cryptorchidi...	ORPHA:264450
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Bicarbonaturia, Hypophosphatemic rickets, Generalized aminoacid...	ORPHA:3337
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Intestinal pseudo-obstruction, Fetal megacystis, Constipation, Cryptorchidism, Multicystic kidney...	ORPHA:73246
Renal Agenesis	Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Renal age...	ORPHA:411709
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hypospadias, Lactose intolerance, Intestinal polyp, Cryptorchidism, Protuberant abdomen	ORPHA:457485
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect	OMIM:243440
Snakebite Envenomation	Acute kidney injury, Diarrhea, Neuromuscular dysphagia, Vomiting, Hyponatremia, Hypopituitarism, ...	ORPHA:449285
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal distention, Steatorrhea, Diarrhea, Abdominal pain, Exocrine pancreatic insufficiency, C...	ORPHA:309031
Galloway-Mowat Syndrome 7	Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ...	OMIM:618348
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia, Hypoparathyroidism, Nephropathy, Renal insufficiency	ORPHA:1563
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Cholelithiasis, Hepatosplenomegaly, Chronic constipation, Cholecystitis	OMIM:301066
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Periportal fibrosis, Hypoplastic nipples, Ascites, Median cleft palate, Intestinal ...	OMIM:269860
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Peroxisome Biogenesis Disorder 8A (Zellweger)	Ventricular septal defect	OMIM:614876
Amelogenesis Imperfecta, Type Ig	Polyuria, Impaired renal concentrating ability, Enuresis, Nephrocalcinosis, Renal insufficiency	OMIM:204690
Diffuse Cutaneous Systemic Sclerosis	Gastroesophageal reflux, Oliguria, Malabsorption, Dysphagia, Nausea and vomiting, Renal insuffici...	ORPHA:220393
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Renal insufficiency, Hyperbilirubinemia	ORPHA:713
Microphthalmia, Syndromic 9	Right aortic arch with mirror image branching, Hypoplastic left atrium, Pelvic kidney, Truncus ar...	OMIM:601186
Pericardial And Diaphragmatic Defect	Mitral stenosis, Abnormal heart morphology, Tetralogy of Fallot, Patent ductus arteriosus, Bicusp...	ORPHA:2847
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect, Vesicoureteral reflux	ORPHA:228399
Spondyloepimetaphyseal Dysplasia, Shohat Type	Abdominal distention, Hepatosplenomegaly	ORPHA:93352
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemic seizures, Generalized aminoaciduria, Hypocalcemia, Hypophosphatemia, Secondary hyper...	OMIM:264700
Multiple Endocrine Neoplasia Type 1	Hematemesis, Neoplasm of the pancreas, Pheochromocytoma, Pituitary growth hormone cell adenoma, P...	ORPHA:652
Mitochondrial Complex Iv Deficiency, Nuclear Type 23	Abdominal distention, Feeding difficulties, Gastroesophageal reflux	OMIM:620275
Bohring-Opitz Syndrome	Annular pancreas, Cardiomegaly, Cholelithiasis, Vomiting, Nephroblastoma, Urinary retention, Feed...	ORPHA:97297
Diarrhea 1, Secretory Chloride, Congenital	Abdominal distention, Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia...	OMIM:214700
Exercise-Induced Malignant Hyperthermia	Decreased liver function, Acute kidney injury, Hyperkalemia, Hypocalcemia, Elevated circulating c...	ORPHA:466650
Kleefstra Syndrome	Supernumerary nipple, Hypospadias, Gastroesophageal reflux, Hypoplasia of penis, Renal insufficie...	ORPHA:261494
Helix Syndrome	Polyuria, Hypermagnesemia, Hypokalemia, Hypocalciuria, Nephrolithiasis, Renal insufficiency, Hype...	OMIM:617671
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Depression, Vesicoureteral reflux, Abnormal testis morphology, Feeding diffi...	ORPHA:96147
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Anencephaly, Spina bifida, Hypoplastic left heart	ORPHA:2476
Steinfeld Syndrome	Absent gallbladder, Unilateral renal dysplasia	OMIM:184705
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Renal hypoplasia/aplasia, Esophageal atresia, Gastroesophageal reflux, Rectovaginal...	ORPHA:2538
Bacterial Toxic-Shock Syndrome	Diarrhea, Abdominal pain, Recurrent urinary tract infections, Hypocalcemia, Elevated circulating ...	ORPHA:36234
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Pancreatitis, Hypokalemia, Acute colitis, Abdominal pain, Diarrhea, Bloody d...	ORPHA:90038
Lymphedema-Hypoparathyroidism Syndrome	Hypoparathyroidism, Nephropathy, Renal insufficiency	OMIM:247410
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites, Chylous asci...	OMIM:265300
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Hypoplasia of penis, Renal hypoplasia, Renal dysplasia, Cryptorchidism, Renal insufficiency	ORPHA:85321
Phosphoglycerate Kinase 1 Deficiency	Exercise-induced myoglobinuria, Renal insufficiency	OMIM:300653
Avian Influenza	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Elevated circulatin...	ORPHA:454836
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased serum pyruvate, Hyperalaninemia, Vomiting, Mild proteinuria, Renal insufficiency	OMIM:619147
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatomegaly, Hypospadias, Lacticaciduria, Hyperalaninemia, Vomiting, Feeding difficulties in inf...	OMIM:252010
Platyspondylic Dysplasia, Torrance Type	Abdominal distention, Cleft palate	ORPHA:85166
Colchicine Poisoning	Abnormal blood ion concentration, Hypokalemia, Diarrhea, Hypocalcemia, Vomiting, Nausea, Hyponatr...	ORPHA:31824
Trisomy 10P	Abnormality of the kidney, Gastroesophageal reflux, Poor suck, Multiple renal cysts, Dysphagia, A...	ORPHA:171929
Femoral-Facial Syndrome	Abnormal renal collecting system morphology, Polycystic kidney dysplasia, Truncus arteriosus, Ren...	OMIM:134780
Helsmoortel-Van Der Aa Syndrome	Enlarged kidney, Decreased response to growth hormone stimulation test, Gastroesophageal reflux, ...	OMIM:615873
Bartter Syndrome Type 4	Renal salt wasting, Acute kidney injury, Hyperprostaglandinuria, Hypokalemia, Hypercalciuria, Imp...	ORPHA:89938
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Muscular ventricular septal defect, Polycystic kidney dysplasia, Patent foramen ovale, Renal cyst...	OMIM:210710
Osteopetrosis, Autosomal Recessive 9	Hyperkalemia, Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hype...	OMIM:620366
Simple Cryoglobulinemia	Abnormality of the kidney, Gastrointestinal hemorrhage, Abdominal pain, Viral hepatitis, Nephroti...	ORPHA:91139
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Hepatitis, Nephrotic syndrome, Acute hep...	ORPHA:139402
46,Xx Sex Reversal 5	Secundum atrial septal defect, Ventricular septal defect, Urogenital sinus anomaly, Hypoplastic l...	OMIM:618901
Matthew-Wood Syndrome	Annular pancreas, Aplasia/Hypoplasia of the pancreas, Vesicoureteral reflux, Abnormal spleen morp...	ORPHA:2470
Restrictive Dermopathy	Transposition of the great arteries, Ureteral duplication, Hypospadias, Dextrocardia, Ascending t...	ORPHA:1662
Nabais Sa-De Vries Syndrome, Type 2	Gastroesophageal reflux, Multicystic kidney dysplasia, Feeding difficulties in infancy, Chronic c...	OMIM:618829
Alagille Syndrome 1	Hypertriglyceridemia, Cirrhosis, Elevated circulating hepatic transaminase concentration, Duplica...	OMIM:118450
Mmep Syndrome	Ventricular septal defect	ORPHA:3434
Hadziselimovic Syndrome	Ventricular hypertrophy, Renal hypoplasia, Tetralogy of Fallot, Atrial septal defect, Ventricular...	OMIM:612946
Magel2-Related Prader-Willi-Like Syndrome	Gastroesophageal reflux, Small pituitary gland, Poor suck, Decreased testicular size, Feeding dif...	ORPHA:398069
Braddock-Carey Syndrome 1	Aortic valve prolapse, Ventricular septal defect, Multicystic kidney dysplasia	OMIM:619980
Histiocytoid Cardiomyopathy	Hepatomegaly, Renal cyst, Vomiting, Cardiomegaly, Polycystic ovaries, Lethargy	ORPHA:137675
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Ventricular septal defect, Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level, Hypertrophic...	OMIM:616277
Mercury Poisoning	Anorexia, Acute kidney injury, Episodic vomiting, Hypokalemia, Episodic abdominal pain, Nausea	ORPHA:330021
Trisomy 13	Abnormality of the ureter, Hydronephrosis, Displacement of the urethral meatus, Multiple renal cy...	ORPHA:3378
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Enlarged kidney, Bifid ureter, Nephroblastoma, Renal malrotation, Multicystic kidney dysplasia	ORPHA:500095
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Craniofacioskeletal Syndrome	Absent gallbladder, Cryptorchidism, Hypospadias, Hydronephrosis	OMIM:300712
Cranioectodermal Dysplasia 1	Hepatomegaly, Hypocalcemia, Stage 1 chronic kidney disease, Hepatic fibrosis, Chronic kidney dise...	OMIM:218330
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hydroureter, Hypercalciuria, Restrictive cardiomyopathy, Renal cyst, Ureteral stenosis, Nephrocal...	OMIM:615398
Hypocalcemic Vitamin D-Dependent Rickets	Hepatomegaly, Hypocalcemic seizures, Generalized aminoaciduria, Hypocalcemia, Hypophosphatemia, S...	ORPHA:289157
Distal Limb Deficiencies-Micrognathia Syndrome	Renal hypoplasia, Cryptorchidism, Renal insufficiency, Proteinuria	ORPHA:1307
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Renal agenesis, Increased urine alpha-ketoglutarate concentration, Patent ductus arteriosus, Atri...	OMIM:220500
Encephalitis Lethargica	Urinary incontinence, Lethargy, Bowel incontinence	ORPHA:83600
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Cryptorchidism, Horseshoe kidney, Feeding difficulties, Renal cyst	ORPHA:166035
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart	OMIM:616276
Hurler Syndrome	Hepatomegaly, Dermatan sulfate excretion in urine, Hepatosplenomegaly, Splenomegaly, Protuberant ...	OMIM:607014
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Elevated circulating hepatic transaminase concentration, Decreased glomerular filtra...	ORPHA:340
Gaucher Disease	Cirrhosis, Hepatomegaly, Hematuria, Cholelithiasis, Abdominal pain, Splenic infarction, Splenic r...	ORPHA:355
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Enlarged kidney, Feeding difficulties	OMIM:261740
Tafro Syndrome	Hepatomegaly, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Splenome...	ORPHA:457077
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Proteinuria, Podocyte foot process e...	OMIM:619609
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Pulmonic stenosis, Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus	OMIM:618223
Eosinophilic Granulomatosis With Polyangiitis	Intestinal obstruction, Glomerulopathy, Hematuria, Gastroesophageal reflux, Abdominal pain, Malab...	ORPHA:183
Li-Campeau Syndrome	Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Micropenis	OMIM:619189
Lysinuric Protein Intolerance	Hepatomegaly, Oroticaciduria, Pancreatitis, Protein avoidance, Diarrhea, Vomiting, Nausea, Hypera...	OMIM:222700
Acute Adrenal Insufficiency	Anorexia, Renal salt wasting, Hyperkalemia, Hyperuricemia, Diarrhea, Abdominal pain, Constipation...	ORPHA:95409
Dietary Iron Overload Disease	Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis...	ORPHA:139507
Lymphatic Malformation 6	Atrial septal defect, Polyhydramnios, Genital edema, Chylothorax, Lymphedema, Pleural effusion, A...	OMIM:616843
Chromosome 17Q12 Deletion Syndrome	Elevated circulating hepatic transaminase concentration, Unilateral renal agenesis, Recurrent uri...	OMIM:614527
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Ventricular septal defect	OMIM:613759
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Episodic vomiting, Diarrhea, Vomiting, Left ventricular hypertrophy, Lethargy	OMIM:618321
Ventricular Septal Defect 3	Atrial septal defect, Ventricular septal defect	OMIM:614432
Glycogen Storage Disease Due To Aldolase A Deficiency	Hyperkalemia, Myoglobinuria, Elevated creatine kinase after exercise, Acute kidney injury	ORPHA:57
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Pulmonary artery atresia, Ventricular septal defect, Supravalvar pulmonary stenosis, Aortic valve...	OMIM:618164
Sim1-Related Prader-Willi-Like Syndrome	Small pituitary gland, Decreased testicular size, Nasogastric tube feeding, Cryptorchidism, Micro...	ORPHA:398079
X-Linked Acrogigantism	Abdominal distention, Enlarged pituitary gland, Abnormal pituitary gland morphology, Adrenocortic...	ORPHA:300373
Goodpasture Syndrome	Glomerular crescent formation, Cylindruria, Increased blood urea nitrogen, Proteinuria, Macroscop...	OMIM:233450
Lujo Hemorrhagic Fever	Elevated circulating hepatic transaminase concentration, Elevated circulating C-reactive protein ...	ORPHA:319213
Mayer-Rokitansky-Kuster-Hauser Syndrome	Renal cyst, Reduced renal corticomedullary differentiation, Polycystic ovaries, Multicystic kidne...	OMIM:277000
Multiple Myeloma	Acute kidney injury, Functional abnormality of the gastrointestinal tract, Abnormality of the bla...	ORPHA:29073
Holoprosencephaly 13, X-Linked	Patent foramen ovale, Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal...	OMIM:301043
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Dermatan sulfate excretion in urine, Splenomegaly, Protuberant abdomen, Urinary gly...	OMIM:253220
Microphthalmia, Syndromic 2	Hypospadias, Hypoplastic aortic arch, Dextrocardia, Pulmonic stenosis, Aortic valve stenosis, Mit...	OMIM:300166
Maternal Uniparental Disomy Of Chromosome 2	Decreased response to growth hormone stimulation test, Hypospadias, Bilateral cryptorchidism, Cho...	ORPHA:96179
Familial Dysautonomia	Abnormality of the kidney, Glomerulopathy, Gastroesophageal reflux, Abnormal peritoneum morpholog...	ORPHA:1764
Kyphoscoliotic Ehlers-Danlos Syndrome	Dextrocardia, Aortic aneurysm, Cerebral hemorrhage, Bladder diverticulum, Bicuspid aortic valve, ...	ORPHA:536545
Poland Syndrome	Renal hypoplasia/aplasia, Hypospadias, Duplicated collecting system, Dextrocardia, Vesicoureteral...	ORPHA:2911
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Cleft palate, Protuberant abdomen	OMIM:184250
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Renal tubular acidosis, Glycosuria, Nephrocalcinosis, Proteinuria, Right ventricular hypertrophy,...	OMIM:613404
Multiple Mitochondrial Dysfunctions Syndrome 7	Decreased liver function, Poor suck, Hypernatremia, Feeding difficulties, Hyperglycinemia, Lethargy	OMIM:620423
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Ventricular septal defect, Hypospadias	OMIM:618330
Yellow Fever	Hematemesis, Acute kidney injury, Jaundice, Diarrhea, Abdominal pain, Anuria, Hyperbilirubinemia,...	ORPHA:99829
Tetrasomy 9P	Dextrocardia, Juxtaductal coarctation of the aorta, Recurrent urinary tract infections, Patent fo...	ORPHA:3310
Ring Chromosome 7 Syndrome	Situs inversus totalis, Hypospadias	ORPHA:1449
Isotretinoin-Like Syndrome	Abnormal aortic arch morphology, Abnormal cardiac ventricle morphology, Abnormality of the pulmon...	ORPHA:2306
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Protuberant abdomen	OMIM:613330
Severe Generalized Junctional Epidermolysis Bullosa	Gastrointestinal inflammation, Abnormal blood ion concentration, Renal tubular epithelial necrosi...	ORPHA:79404
Hereditary Hemorrhagic Telangiectasia	Gastrointestinal hemorrhage, Cirrhosis, Hepatic arteriovenous malformation, Hematuria, Cholelithi...	ORPHA:774
Biotinidase Deficiency	Hyperammonemia, Organic aciduria, Lethargy	ORPHA:79241
Roberts Syndrome	Polycystic kidney dysplasia, Cryptorchidism, Long penis	ORPHA:3103
Aromatic L-Amino Acid Decarboxylase Deficiency	Gastroesophageal reflux, Diarrhea, Feeding difficulties in infancy, Constipation, Lethargy	OMIM:608643
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Pancreatiti...	ORPHA:36426
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Cholelithiasis, Splenomegaly, Neoplasm of the ...	ORPHA:77293
Cat Eye Syndrome	Tricuspid atresia, Vesicoureteral reflux, Total anomalous pulmonary venous return, Renal agenesis...	OMIM:115470
Frank-Ter Haar Syndrome	Patent foramen ovale, Secundum atrial septal defect, Mitral valve prolapse, Double outlet right v...	OMIM:249420
Fibrochondrogenesis 2	Protuberant abdomen	OMIM:614524
Fadd-Related Immunodeficiency	Ventricular septal defect	ORPHA:306550
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Hypophosphatemic rickets, Proximal tubulopathy, Organic aciduria,...	OMIM:619743
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:3469
Fabry Disease	Anorexia, Abnormal renal tubule morphology, Glomerulopathy, Abnormal circulating lipid concentrat...	ORPHA:324
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Renal hypoplasia/aplasia, Abnormal localization of kidney	ORPHA:3186
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypospadias, Hydronephrosis, Absent gallbladder, Cryptorchidism, Micropenis	ORPHA:163979
Achondrogenesis, Type Ii	Stillbirth, Cleft palate, Protuberant abdomen	OMIM:200610
Complement Factor I Deficiency	Recurrent urinary tract infections, Renal insufficiency, Pyelonephritis, Glomerulonephritis	OMIM:610984
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Dyspepsia, Hematuria, Gastroesophageal reflux, Vomiting, Hypoperistalsis, Dysphagia, Proteinuria,...	ORPHA:1018
Generalized Pustular Psoriasis	Elevated circulating hepatic transaminase concentration, Elevated circulating C-reactive protein ...	ORPHA:247353
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Abdominal distention, Hepatomegaly...	ORPHA:97214
14Q24.1Q24.3 Microdeletion Syndrome	Ectopic kidney, Truncus arteriosus, Abnormal heart morphology, Atrial septal defect, Ventricular ...	ORPHA:401935
Catel-Manzke Syndrome	Overriding aorta, Coarctation of aorta, Ventricular septal defect, Dextrocardia	OMIM:616145
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Pancreatic aplasia	ORPHA:556955
Primary Hyperoxaluria	Hematuria, Aciduria, Elevated circulating hepatic transaminase concentration, Calcium oxalate nep...	ORPHA:416
Basal Ganglia Disease, Biotin-Thiamine Responsive	Vomiting, Dysphagia, Lethargy	OMIM:607483
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Pancreatiti...	ORPHA:537
Bardet-Biedl Syndrome 9	Renal insufficiency	OMIM:615986
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Chronic kidney disease, Membranoproliferative glomeruloneph...	OMIM:137940
Ogden Syndrome	Cryptorchidism, Lethargy	ORPHA:276432
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Pulmonic stenosis, Atrial septal defect, Ventricular septal defect	OMIM:614262
Congenital Disorder Of Glycosylation, Type Iig	Hemolytic-uremic syndrome, Hypospadias, Hydronephrosis, Left ventricular hypertrophy, Cryptorchid...	OMIM:611209
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Perimembranous ventricular septal defect, Transposition of the great arteries, Muscular ventricul...	OMIM:612474
Schneckenbecken Dysplasia	Stillbirth, Cleft palate, Protuberant abdomen	OMIM:269250
Enamel-Renal Syndrome	Hypocalciuria, Renal insufficiency, Impaired renal concentrating ability, Hypophosphaturia, Enure...	ORPHA:1031
Fanconi Anemia, Complementation Group Q	Biliary atresia	OMIM:615272
Pallister-Hall Syndrome	Decreased response to growth hormone stimulation test, Hydroureter, Ectopic kidney, Panhypopituit...	OMIM:146510
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Abdominal distention, Hypoplasia of penis, Renal cyst, Renal hypoplasia, Urethrovaginal fistula, ...	ORPHA:93271
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Ischemic stroke, Transposition of the great arteries, Muscular ventricular septal defect, Unilate...	OMIM:619503
Complete Atrioventricular Septal Defect	Hepatomegaly, Feeding difficulties, Right ventricular hypertrophy, Cardiomegaly, Lethargy	ORPHA:1329
Glycine Encephalopathy	Hyperglycinemia, Poor suck, Lethargy	ORPHA:407
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia	OMIM:615989
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Unilateral renal agenesis, Ventricular septal defect, Crossed fused renal ectopia, Atrial septal ...	OMIM:618142
Staphylococcal Necrotizing Pneumonia	Lethargy, Elevated circulating C-reactive protein concentration	ORPHA:36238
16P12.1P12.3 Triplication Syndrome	Abnormal intrahepatic bile duct morphology, Decreased response to growth hormone stimulation test...	ORPHA:485405
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Protuberant abdomen	OMIM:617102
Kasabach-Merritt Phenomenon	Abdominal distention, Abdominal pain, Hepatic hemangioma	ORPHA:2330
Humeroradial Synostosis	Renal insufficiency	OMIM:236400
Neuroleptic Malignant Syndrome	Hyperkalemia, Acute kidney injury, Urinary incontinence, Elevated circulating hepatic transaminas...	ORPHA:94093
Joubert Syndrome 1	Hepatic fibrosis, Nephropathy, Renal cyst	OMIM:213300
Sifrim-Hitz-Weiss Syndrome	Renal insufficiency, Vesicoureteral reflux, Tetralogy of Fallot, Atrial septal defect, Ventricula...	OMIM:617159
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Gastrointestinal inflammation, Gastroesophageal reflux, Depression, Abnormality of the urinary sy...	ORPHA:79408
Trisomy 1Q	Congenital megaureter, Hydronephrosis, Patent ductus arteriosus, Ventricular septal defect, Multi...	ORPHA:261344
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Abdominal distention, Hydronephrosis, Urethral atresia	OMIM:271520
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypoparathyroidism, Gastroesophageal reflux, Congenital megaureter, Hyperca...	ORPHA:369837
Zttk Syndrome	Polyuria, Unilateral renal agenesis, Horseshoe kidney, Chronic diarrhea, Feeding difficulties, Ab...	OMIM:617140
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypospadias, Renal insufficiency, Hyperuricemia, Uric acid nephrolithiasis, Urolithiasis, Cryptor...	OMIM:300661
Alstrom Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Elevated circulating...	OMIM:203800
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anorexia, Abdominal distention, Gastrointestinal inflammation, Renal tubular epithelial necrosis,...	ORPHA:95455
Feingold Syndrome Type 1	Abnormality of the kidney, Tricuspid atresia, Vesicoureteral reflux, Tricuspid stenosis, Multiple...	ORPHA:391641
Immunoglobulin A Vasculitis	Anorexia, Gastrointestinal infarctions, Gastrointestinal hemorrhage, Glomerulopathy, Hematuria, A...	ORPHA:761
Serkal Syndrome	Hypospadias, Abnormal penis morphology, Pulmonic stenosis, Renal agenesis, Hypoplasia of the blad...	ORPHA:139466
Alternating Hemiplegia Of Childhood	Anorexia, Abdominal distention, Oral-pharyngeal dysphagia, Diarrhea, Vomiting, Constipation, Dysp...	ORPHA:2131
Waldenström Macroglobulinemia	Anorexia, Gastrointestinal hemorrhage, Hepatomegaly, Diarrhea, Malabsorption, Splenomegaly, Renal...	ORPHA:33226
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Transposition of the great arteries, Hypospadias, Cardiomyopathy, Total anomalou...	OMIM:312870
Cardiac Valvular Dysplasia 1	Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Hydrops fetalis...	OMIM:212093
Subaortic Stenosis-Short Stature Syndrome	Biliary tract abnormality	ORPHA:3191
Cystic Fibrosis	Steatorrhea, Cirrhosis, Pancreatitis, Hepatomegaly, Diarrhea, Hypercalciuria, Meconium ileus, Bil...	OMIM:219700
Thanatophoric Dysplasia, Type I	Neonatal death, Protuberant abdomen	OMIM:187600
Mosaic Variegated Aneuploidy Syndrome 1	Hypospadias, Multicystic kidney dysplasia, Renal cyst, Cleft palate, Nephroblastoma, Cryptorchidi...	OMIM:257300
Isolated Klippel-Feil Syndrome	Renal hypoplasia/aplasia, Ventricular septal defect, Spina bifida	ORPHA:2345
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Pseudo-Torch Syndrome 3	Cardiomegaly, Acute kidney injury, Increased circulating ferritin concentration, Proteinuria	OMIM:618886
Severe Acute Respiratory Syndrome	Acute kidney injury	ORPHA:140896
Digeorge Syndrome	Unilateral renal agenesis, Cholelithiasis, Gastroesophageal reflux, Renal insufficiency, Hypoplas...	OMIM:188400
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Renal hypoplasia/aplasia, Renal agenesis, Truncus arteriosus, Ventricular septal defect	ORPHA:2516
Vitamin D-Dependent Rickets, Type 2A	Secondary hyperparathyroidism, Hypocalcemic seizures, Protuberant abdomen, Hypophosphatemia	OMIM:277440
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cholelithiasis, Hepatosplenomegaly, Abnormality of the spleen, Splenomegaly, Feeding difficulties...	ORPHA:2072
Fryns Syndrome	Abnormal aortic arch morphology, Hypospadias, Vesicoureteral reflux, Abnormal aortic morphology, ...	ORPHA:2059
Calciphylaxis	Secondary hyperparathyroidism, Stage 5 chronic kidney disease, Hyperphosphatemia	ORPHA:280062
Infection-Related Hemolytic Uremic Syndrome	Hyperkalemia, Gastrointestinal infarctions, Acute kidney injury, Pancreatitis, Acute colitis, Abd...	ORPHA:544482
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Decreased glomerular filtration rate, Nephrotic syndrome, Proteinuria, Dysphagia, Chronic kidney ...	ORPHA:488627
Cornelia De Lange Syndrome 1	High, narrow palate, Hypospadias, Gastroesophageal reflux, Ectopic kidney, Abnormal renal morphol...	OMIM:122470
Systemic Sclerosis	Abnormality of the kidney, Acute kidney injury, Gastroesophageal reflux, Gastroparesis, Elevated ...	ORPHA:90291
Ethylene Glycol Poisoning	Hyperkalemia, Renal tubular epithelial necrosis, Hematuria, Renal tubular dysfunction, Hypocalcem...	ORPHA:31826
Joubert Syndrome 14	Ventricular septal defect, Intracranial hemorrhage, Renal cyst	OMIM:614424
Medulloblastoma	Nausea and vomiting, Elevated circulating hepatic transaminase concentration, Lethargy	ORPHA:616
Holoprosencephaly 14	Double outlet right ventricle, Ventricular septal defect, Aortic valve atresia	OMIM:619895
Neu-Laxova Syndrome 1	Transposition of the great arteries, Patent foramen ovale, Renal agenesis, Patent ductus arterios...	OMIM:256520
Joubert Syndrome With Renal Defect	Renal insufficiency, Feeding difficulties, Nephropathy	ORPHA:220497
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:616898
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Rhizomelic Limb Shortening With Dysmorphic Features	Patent foramen ovale, Stage 1 chronic kidney disease	OMIM:618821
Harrod Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Hypospadias	ORPHA:2115
Dyrk1A-Related Intellectual Disability Syndrome	Breast hypoplasia, Hypospadias, Gastroesophageal reflux, Unilateral renal agenesis, Pelvic kidney...	ORPHA:464306
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Hypospadias, Coarctation of aorta, Tetralogy of Fallot, Patent ductus arteriosus, Ventricular sep...	OMIM:600460
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Renal cyst, Coarctation of aorta, Mitral stenosis, Patent ductus arteriosus, Renal dysplasia	OMIM:617260
Williams Syndrome	Hypoplasia of penis, Nephrocalcinosis, Multiple renal cysts, Urethral stenosis, Nausea and vomiti...	ORPHA:904
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Horseshoe kidney, Feeding difficulties, Renal cyst	OMIM:250410
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Mucopolysaccharidosis Type 3	Intermittent diarrhea, Hepatomegaly, Constipation, Mucopolysacchariduria, Malabsorption, Dysphagi...	ORPHA:581
Weill-Marchesani Syndrome	Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis	ORPHA:3449
Constricting Bands, Congenital	Ectopia cordis, Bladder exstrophy	OMIM:217100
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Hypospadias, Patent foramen ovale, Abnormal heart morphology, Umbilical hernia, Bicuspid aortic v...	ORPHA:500159
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Gastroesophageal reflux, Unilateral renal agenesis, Pelvic kidney, Renal cyst, Vomit...	ORPHA:464311
Hermansky-Pudlak Syndrome 1	Abdominal pain, Inflammation of the large intestine, Hematochezia, Renal insufficiency, Colitis	OMIM:203300
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventricular septal defect, Hypoplasia of penis, Hypoplastic left heart	ORPHA:2772
Developmental Delay With Or Without Dysmorphic Facies And Autism	Vesicoureteral reflux, Renal cyst, Microphallus, Renal hypoplasia, Hydronephrosis, Feeding diffic...	OMIM:618454
Exstrophy-Epispadias Complex	Penoscrotal transposition, Abnormality of the kidney, Epispadias, Urinary incontinence, Bifid pen...	ORPHA:322
Refsum Disease	Renal insufficiency, Splenomegaly	ORPHA:773
Johanson-Blizzard Syndrome	Situs inversus totalis, Atrial septal defect, Vascular dilatation, Hypospadias, Urethrovaginal fi...	OMIM:243800
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Vesicoureteral reflux, Renal cyst, Renal hypoplasia, Hydronephrosis, Dyspha...	OMIM:618460
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2715
Oculocerebrorenal Syndrome Of Lowe	Nephrocalcinosis, Multiple renal cysts, Hypophosphatemia, Hyperparathyroidism, Depression, Nephro...	ORPHA:534
Mitochondrial Complex I Deficiency, Nuclear Type 29	Vomiting, Stage 5 chronic kidney disease, Hyperalaninemia, Lacticaciduria	OMIM:618250
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:617044
Atelosteogenesis Type I	Abnormal pancreatic duct morphology, Multiple renal cysts	ORPHA:1190
Attenuated Familial Adenomatous Polyposis	Neoplasm of the stomach, Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the colon, Lar...	ORPHA:220460
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Abnormal renal morphology, Patent foramen ovale, Umbilical hernia, Bicuspid aortic valve, Atrial ...	ORPHA:329224
Cerebrotendinous Xanthomatosis	Chronic diarrhea, Cholelithiasis, Prolonged neonatal jaundice	ORPHA:909
Penile Agenesis	Atrial septal defect, Hydroureter, Abnormality of the bladder, Bilateral renal agenesis, Absent p...	ORPHA:49
Thauvin-Robinet-Faivre Syndrome	Ventricular septal defect, Renal cyst, Bifid ureter, Mitral valve prolapse, Renal dysplasia, Vari...	OMIM:617107
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Elevated circulating alanine aminotransferase concentration, Exocrine pancrea...	OMIM:618500
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:226307
Kawasaki Disease	Myocarditis, Vasculitis, Ascending tubular aorta aneurysm, Abnormal heart valve morphology, Doubl...	ORPHA:2331
Fryns Syndrome	Stillbirth, Ureteral duplication, Aganglionic megacolon, Hypospadias, Esophageal atresia, Meckel ...	OMIM:229850
Acute Generalized Exanthematous Pustulosis	Cholestasis, Elevated circulating hepatic transaminase concentration, Renal insufficiency	ORPHA:293173
Donnai-Barrow Syndrome	Ventricular septal defect, Proteinuria, Umbilical hernia	ORPHA:2143
Galloway-Mowat Syndrome 9	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, ...	OMIM:619603
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Stillbirth, Protuberant abdomen	OMIM:151210
Genitopatellar Syndrome	Gastroesophageal reflux, Hydronephrosis, Feeding difficulties, Cryptorchidism, Multicystic kidney...	ORPHA:85201
Immunodeficiency 96	Multicystic kidney dysplasia	OMIM:619774
Joubert Syndrome 2	Nephronophthisis, Renal insufficiency, Renal cyst	OMIM:608091
Hand-Foot-Genital Syndrome	Hypospadias, Renal insufficiency, Vesicoureteral reflux, Chordee, Ureteropelvic junction obstruct...	OMIM:140000
Xfe Progeroid Syndrome	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Renal insufficiency, Pr...	OMIM:610965
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Unilateral renal agenesis, Patent foramen ovale, Renal hypoplasia, Abnormal heart morphology, Hyd...	OMIM:618494
Erdheim-Chester Disease	Abdominal pain, Dysuria, Retroperitoneal fibrosis, Hydronephrosis, Nausea and vomiting, Renal ins...	ORPHA:35687
Steinert Myotonic Dystrophy	Decreased response to growth hormone stimulation test, Elevated circulating hepatic transaminase ...	ORPHA:273
Lamellar Ichthyosis	Renal insufficiency	ORPHA:313
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Acute kidney injury, Myoglobinuria, Elevated creatine kinase after exercise, Acute ...	ORPHA:423
Ring Chromosome 13 Syndrome	Hypoplasia of the gallbladder, Hypospadias, Urogenital sinus anomaly, Abnormal renal physiology, ...	ORPHA:96176
Holoprosencephaly-Caudal Dysgenesis Syndrome	Renal insufficiency	ORPHA:2165
Galloway-Mowat Syndrome 1	Focal segmental glomerulosclerosis, Nephrotic syndrome, Feeding difficulties, Proteinuria, Hypoal...	OMIM:251300
Hyperoxaluria, Primary, Type I	Hematuria, Calcium oxalate nephrolithiasis, Hyperoxaluria, Nephrocalcinosis, Elevated urinary gly...	OMIM:259900
Joubert Syndrome 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:608629
Viss Syndrome	Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Tortuous cerebral arteries...	OMIM:619472
Roberts-Sc Phocomelia Syndrome	Stillbirth, Hypospadias, Accessory spleen, Long penis, Polycystic kidney dysplasia, Biliary tract...	OMIM:268300
Holt-Oram Syndrome	Hypoplasia of right ventricle, Abnormal coronary artery origin, Perimembranous ventricular septal...	OMIM:142900
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Stillbirth, Renal cyst, Anal atresia, Renal hypoplasia, Cleft palate, Lobulated tongue, Cryptorch...	OMIM:616300
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Hypospadias, Small pituitary gland, Tube feeding, Feeding difficulties, Micropenis, Protuberant a...	OMIM:619479
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Renal hypoplasia, Ventricular septal defect, Hypoplasia of penis	ORPHA:2256
Igg4-Related Submandibular Gland Disease	Abnormality of the kidney, Enlarged lacrimal glands, Abnormal salivary gland morphology, Cholangi...	ORPHA:449432
Cardiofaciocutaneous Syndrome 3	Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Hypertrophic cardiomyopathy	OMIM:615279
Hellp Syndrome	Acute kidney injury, Elevated circulating hepatic transaminase concentration, Abdominal pain, Vom...	ORPHA:244242
Microcephaly-Capillary Malformation Syndrome	Patent foramen ovale, Vesicoureteral reflux, Right ventricular hypertrophy, Atrial septal defect,...	OMIM:614261
Nail-Patella Syndrome	Abnormality of the kidney, Hematuria, Constipation, Nephrotic syndrome, Thickened glomerular base...	ORPHA:2614
Granulomatosis With Polyangiitis	Intestinal obstruction, Gastrointestinal hemorrhage, Glomerulopathy, Hematuria, Pancreatitis, Ele...	ORPHA:900
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect, Micropenis, Unilateral renal agenesis	OMIM:618504
Burn-Mckeown Syndrome	Renal hypoplasia, Atrial septal defect, Ventricular septal defect, Unilateral renal agenesis	OMIM:608572
Trisomy 20P	Abnormality of the kidney, Hypospadias, Abnormality of the ureter, Hydronephrosis, Multiple renal...	ORPHA:261318
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Micropenis	OMIM:617925
Opsismodysplasia	Protuberant abdomen, Hypophosphatemia, Renal phosphate wasting	OMIM:258480
Fibrochondrogenesis 1	Stillbirth, Cleft palate, Protuberant abdomen	OMIM:228520
Tatton-Brown-Rahman Syndrome	Vesicoureteral reflux, Atrial septal defect, Ventricular septal defect, Umbilical hernia	OMIM:615879
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Ventricular septal defect, Hematuria, Proteinuria, Tubulointerstitial nephritis	OMIM:616901
Neurooculocardiogenitourinary Syndrome	Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:618652
Kufor-Rakeb Syndrome	Bradykinesia, Urinary incontinence, Bowel incontinence, Dysphagia, Apathy, Lethargy	ORPHA:306674
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Complete atrioventricular canal defect	ORPHA:476126
Serotonin Syndrome	Diarrhea, Nausea, Acute kidney injury, Hepatic failure	ORPHA:43116
Acute Liver Failure	Acute kidney injury, Gastrointestinal hemorrhage, Jaundice, Elevated circulating hepatic transami...	ORPHA:90062
Cockayne Syndrome Type 3	Hepatomegaly, Hydroureter, Unilateral renal agenesis, Gastroesophageal reflux, Elevated circulati...	ORPHA:90324
Ulbright-Hodes Syndrome	Polycystic kidney dysplasia, Cryptorchidism, Renal hypoplasia, Abnormal penis morphology	ORPHA:3404
Leopard Syndrome 1	Unilateral renal agenesis, Hypospadias, Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral va...	OMIM:151100
Adams-Oliver Syndrome 6	Renal hypoplasia, Truncus arteriosus, Ventricular septal defect	OMIM:616589
Microsporidiosis	Anorexia, Intermittent diarrhea, Urethritis, Abnormality of the urinary system physiology, Pancre...	ORPHA:2552
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Reduced pancreatic beta cells, Hepatomegaly, Renal insufficiency	OMIM:226980
Fanconi Anemia, Complementation Group I	Abnormal renal morphology, Patent foramen ovale, Vesicoureteral reflux, Renal hypoplasia, Atrial ...	OMIM:609053
Cocaine Intoxication	Gastrointestinal infarctions, Acute kidney injury, Hematuria, Glomerulonephritis, Abdominal pain,...	ORPHA:90068
Zygomycosis	Hematemesis, Gastrointestinal hemorrhage, Pancreatitis, Melena, Diarrhea, Abdominal pain, Splenic...	ORPHA:73263
Charge Syndrome	Right aortic arch, Dysplastic tricuspid valve, Pulmonary artery atresia, Renal agenesis, Renal hy...	OMIM:214800
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia	OMIM:614435
Orotic Aciduria	Oroticaciduria, Hematuria, Orotic acid crystalluria, Atrial septal defect, Ventricular septal defect	OMIM:258900
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Conotruncal defect	ORPHA:40366
3C Syndrome	Atrioventricular canal defect, Abnormal tricuspid valve morphology, Hypospadias, Hypoplasia of pe...	ORPHA:7
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, High palate, Decreased testicular size, Hydronephrosis, Dysphagia, ...	ORPHA:261349
Absence Of The Pulmonary Artery	Patent foramen ovale, Truncus arteriosus, Abnormal inferior vena cava morphology, Right aortic ar...	ORPHA:980
Meier-Gorlin Syndrome 7	Hypospadias, Vesicoureteral reflux, Urethral stricture, Atrial septal defect, Ventricular septal ...	OMIM:617063
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis	OMIM:607598
Oculoauriculofrontonasal Syndrome	Ventricular septal defect, Encephalocele	ORPHA:398156
Joubert Syndrome With Oculorenal Defect	Renal insufficiency, Nephropathy	ORPHA:2318
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Gastroesophageal reflux, Depression, Poor ...	ORPHA:220386
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Gastroesophageal reflux, Depression, Poor ...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Gastroesophageal reflux, Depression, Poor ...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Gastroesophageal reflux, Depression, Poor ...	ORPHA:93924
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Dilatation of the bladder, Dysplastic tricuspid valve, Bicuspid aortic valve, Dilatation of the r...	OMIM:265380
Martin-Probst Syndrome	Renal insufficiency, Hypoplastic nipples, Chordee, Proteinuria, Cryptorchidism, Micropenis	OMIM:300519
Greenberg Dysplasia	Stillbirth, Hepatomegaly, Hepatic calcification, Neonatal death, Hepatosplenomegaly, Pancreatic i...	OMIM:215140
Trichinellosis	Nausea, Apathy, Dysphagia, Lethargy	ORPHA:863
2Q37 Microdeletion Syndrome	Nephroblastoma, Pyloric stenosis, Supernumerary nipple, Multicystic kidney dysplasia	ORPHA:1001
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Pulmonic stenosis, Abnormal heart morphology, Bicuspid aortic valve, Ven...	ORPHA:284169
Atelosteogenesis, Type I	Stillbirth, Neonatal death, Cleft palate, Cryptorchidism, Protuberant abdomen	OMIM:108720
Grange Syndrome	Ventricular septal defect	ORPHA:79094
Amoebiasis Due To Free-Living Amoebae	Vomiting, Nausea, Lethargy, Intrarenal abscess	ORPHA:68
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Renal hypoplasia/aplasia, Abnormality of the ureter, Ventricular septal defect, Umbilical hernia	ORPHA:1770
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts, Elevated circulating creati...	OMIM:618733
Radio-Renal Syndrome	Renal dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Multicystic kidney dysplasia	ORPHA:3015
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Abnormal aortic valve morphology, Microscopic hematuria, Proteinuria, Renal insuf...	ORPHA:86818
Sarcoidosis	Decreased liver function, Abnormal liver parenchyma morphology, Enlarged lacrimal glands, Hepatom...	ORPHA:797
Alkaptonuria	Black pigment gallstones, Nephrolithiasis, Dark urine, Elevated urinary homogentisic acid, Aminoa...	ORPHA:56
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Horseshoe kidney, Unilateral renal...	OMIM:613680
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Hypospadias, Gastroesophageal reflux, Vesicoureteral reflux, High palate, Furro...	OMIM:616975
Bardet-Biedl Syndrome	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating hepatic trans...	ORPHA:110
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Horseshoe kidney, Gastroparesis, Gastroesophageal reflux, Unilateral renal agenesis, Chronic diar...	ORPHA:500150
Branchio-Oculo-Facial Syndrome	Renal agenesis, Hydronephrosis, Multicystic kidney dysplasia	ORPHA:1297
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Ectopic kidney, Vesicoureteral reflux, Renal agenesis, Mitral atresia, Renal insufficiency, Horse...	ORPHA:140952
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Atrial septal defect, Ventricular septal defect, Micropenis	OMIM:613870
Distal Deletion 10Q	Acute kidney injury, Vesicoureteral reflux, Enuresis, Functional abnormality of the bladder, Feed...	ORPHA:96148
Lethal Kniest-Like Dysplasia	Cleft palate, Protuberant abdomen	ORPHA:2347
Fixed Subaortic Stenosis	Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ...	ORPHA:3092
Noonan Syndrome 9	Pulmonic stenosis, Ventricular septal defect, Hydroureter	OMIM:616559
Nail-Patella Syndrome	Hematuria, Nephrotic syndrome, Proteinuria, Renal insufficiency, Glomerulonephritis	OMIM:161200
Focal Dermal Hypoplasia	Renal hypoplasia/aplasia, Gastroesophageal reflux, Abdominal pain, Hydronephrosis, Acute hepatic ...	ORPHA:2092
Cardiofacioneurodevelopmental Syndrome	Pulmonic stenosis, Atrioventricular canal defect, Ventricular septal defect, Abdominal situs inve...	OMIM:619123
Tuberous Sclerosis 1	Cardiac rhabdomyoma, Renal cell carcinoma, Renal cyst, Pulmonary lymphangiomyomatosis, Renal angi...	OMIM:191100
Cockayne Syndrome	Urinary incontinence, Elevated circulating hepatic transaminase concentration, Unilateral renal a...	ORPHA:191
Proteus Syndrome	Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Enlarged polycystic ovaries, ...	ORPHA:744
Kleefstra Syndrome 1	Abnormal renal morphology, Conotruncal defect, Micropenis, Hypospadias	OMIM:610253
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect, Horseshoe kidney, Hypospadias	OMIM:218350
1P36 Deletion Syndrome	Abnormality of the kidney, Annular pancreas, Hypospadias, Gastroesophageal reflux, Hypoplasia of ...	ORPHA:1606
Achondrogenesis, Type Ia	Stillbirth, Protuberant abdomen, Protruding tongue	OMIM:200600
Noonan Syndrome 8	Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricular hypertrophy, Atrial septal defec...	OMIM:615355
Lowe Oculocerebrorenal Syndrome	Low-molecular-weight proteinuria, Bicarbonaturia, Hypercholesterolemia, Elevated circulating crea...	OMIM:309000
Emanuel Syndrome	Unilateral renal agenesis, Recurrent urinary tract infections, Truncus arteriosus, Pulmonic steno...	OMIM:609029
8Q24.3 Microdeletion Syndrome	Abnormality of the kidney, Atrioventricular canal defect, Unilateral renal agenesis, Hypoplastic ...	ORPHA:508488
Neu-Laxova Syndrome 2	High palate, Cleft palate, Protuberant abdomen	OMIM:616038
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pancreatitis, Splenic cyst, Hepatic sinusoidal dilatation, Feeding difficulties, Cardiomegaly, Cr...	OMIM:620371
Joubert Syndrome 21	Splenomegaly, Hyperechogenic kidneys, Dysphagia, Renal cyst	OMIM:615636
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Large placenta, Abnormal heart morphology, Ventricular septal defect, Umbilical hernia	ORPHA:254534
Mucolipidosis Type Ii	Hepatosplenomegaly, Splenomegaly, Left ventricular hypertrophy, Protuberant abdomen, Gastrostomy ...	ORPHA:576
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Proximal tubulopathy, Hyperechogenic kidneys, Atrial septal defect, Ve...	OMIM:614576
Stankiewicz-Isidor Syndrome	Ureteral duplication, Hypospadias, Truncus arteriosus, Ventricular septal defect, Micropenis	OMIM:617516
Tuberous Sclerosis 2	Cardiac rhabdomyoma, Renal cell carcinoma, Renal cyst, Renal angiomyolipoma, Pulmonary lymphangio...	OMIM:613254
Hamamy Syndrome	Atrial septal defect, Complete atrioventricular canal defect	OMIM:611174
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Patent foramen ovale, Ventricular septal defect, Nephrolithiasis, Left ventricular hypertrophy, B...	OMIM:615474
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Anterior encephalocele, Ventricular septal defect	OMIM:601357
Listeriosis	Acute kidney injury, Jaundice, Liver abscess, Diarrhea, Abdominal pain, Splenic abscess, Vomiting...	ORPHA:533
Leptospirosis	Anorexia, Acute kidney injury, Jaundice, Hepatomegaly, Diarrhea, Abdominal pain, Cellular urinary...	ORPHA:509
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Renal hypoplasia, Atrial septal defect, Ventricular septal defect	ORPHA:75389
Tetraamelia-Multiple Malformations Syndrome	Cryptorchidism, Multicystic kidney dysplasia	ORPHA:3301
Schinzel-Giedion Syndrome	Annular pancreas, Aganglionic megacolon, Hypospadias, Macroglossia, High palate, Nephrolithiasis,...	ORPHA:798
Floating-Harbor Syndrome	Mesocardia, Hypospadias, Glandular hypospadias, Persistent left superior vena cava, Coarctation o...	OMIM:136140
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Hypospadias, Dysplastic pulmonary valve, Recurrent urinary tract infections, Vesicoureteral reflu...	OMIM:619103
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Ureteral duplication, Hypospadias, Multicystic kidney dysplasia, Hypoplasia of peni...	ORPHA:373
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Renal neoplasm, Hematuria, Abdominal pain, Multiple renal cysts, Abn...	ORPHA:538
Neurofibroma	Abnormal biliary tract morphology, Intestinal bleeding, Enlargement of parotid gland	ORPHA:252183
Hand-Foot-Genital Syndrome	Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux, Ureteropelvic junction ob...	ORPHA:2438
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect	OMIM:214300
Smith-Lemli-Opitz Syndrome	Abnormality of the gallbladder, Renal hypoplasia/aplasia, Hypospadias, Gastroesophageal reflux, H...	ORPHA:818
Glutaryl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Dysphagia, Chronic kidney disease, Feeding difficulties	ORPHA:25
Alagille Syndrome	Renal hypoplasia/aplasia, Spina bifida occulta, Abnormality of the ureter, Nephrotic syndrome, At...	ORPHA:52
Diamond-Blackfan Anemia	Renal agenesis, Horseshoe kidney, Lethargy, Hypospadias	ORPHA:124
Congenital Gerbode Defect	Perimembranous ventricular septal defect, Abnormal tricuspid valve leaflet morphology, Bacterial ...	ORPHA:99095
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Glycosuria, Stage 5 chronic kidney disease, Renal Fanconi syndrome	OMIM:268315
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Atrial septal defect, Perimembranous ventricular septal defect, Secundum atrial septal defect, Ve...	OMIM:600987
Mowat-Wilson Syndrome	Abdominal distention, Abnormality of the kidney, Aganglionic megacolon, Hypospadias, Vomiting, Co...	OMIM:235730
Spondyloenchondrodysplasia	Decreased response to growth hormone stimulation test, Hematuria, Proteinuria, Chronic kidney dis...	ORPHA:1855
Timothy Syndrome	Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot	OMIM:601005
Brachydactyly, Type B1	Ventricular septal defect, Micropenis	OMIM:113000
Peters-Plus Syndrome	Bilobate gallbladder, Ureteral duplication, Hypospadias, Biliary tract abnormality, Renal hypopla...	OMIM:261540
Hermansky-Pudlak Syndrome	Anorexia, Gastrointestinal hemorrhage, Abdominal pain, Malabsorption, Renal insufficiency	ORPHA:79430
Jacobsen Syndrome	Annular pancreas, Ectopic anus, Constipation, Intestinal malrotation, Pyloric stenosis, Hydroneph...	ORPHA:2308
Noonan Syndrome 4	Ureteral duplication, Hypertrophic cardiomyopathy, Pulmonic stenosis, Hydronephrosis, Atrial sept...	OMIM:610733
Galloway-Mowat Syndrome 3	Glomerular sclerosis, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypoalbuminem...	OMIM:617729
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Ventricular septal defect, Hematuria	OMIM:617021
Primary Sjögren Syndrome	Abnormality of the kidney, Chronic active hepatitis, Depression, Parotitis, Biliary cirrhosis, Ch...	ORPHA:289390
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Decreased glomerular filtration rate, Focal segmental glomerulosclerosis, Nephrotic syndrome, Ren...	OMIM:614748
Fanconi Anemia, Complementation Group N	Unilateral renal agenesis, Ectopic kidney, Pelvic kidney, Nephroblastoma, Atrial septal defect, V...	OMIM:610832
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Stage 5 chronic kidney disease, Proteinuria	OMIM:219900
Bardet-Biedl Syndrome 1	Abnormality of the kidney, Abnormality of the ovary, Decreased testicular size, Biliary tract abn...	OMIM:209900
Cerebrocostomandibular Syndrome	Anal stenosis, Ectopic kidney, Gastroesophageal reflux, Cleft soft palate, Short hard palate, Glo...	OMIM:117650
Holt-Oram Syndrome	Atrioventricular canal defect, Anomalous pulmonary venous return, Atrial septal defect, Ventricul...	ORPHA:392
Atelosteogenesis Type Ii	Bilateral cleft palate, Cleft palate, Protuberant abdomen	ORPHA:56304
Diamond-Blackfan Anemia 7	Vesicoureteral reflux, Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal def...	OMIM:612562
Autosomal Recessive Robinow Syndrome	Abnormal tricuspid valve morphology, Hypoplasia of penis, Abnormal aortic morphology, Hydronephro...	ORPHA:1507
Au-Kline Syndrome	Gastroesophageal reflux, Vesicoureteral reflux, Cryptorchidism, Constipation, Hydronephrosis, Fee...	OMIM:616580
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Abnormal tricuspid valve morphology	ORPHA:3405
Long-Olsen-Distelmaier Syndrome	Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect	OMIM:620609
Fanconi Anemia	Abnormal aortic valve morphology, Hydroureter, Hypospadias, Abnormal preputium morphology, Azoosp...	ORPHA:84
Doors Syndrome	Hydronephrosis, Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Double outle...	ORPHA:79500
Agel Amyloidosis	Depression, Stage 5 chronic kidney disease, Abnormal spleen morphology, Proteinuria	ORPHA:85448
Degcags Syndrome	Abnormal renal medulla morphology, Hepatomegaly, Hypospadias, Gastroesophageal reflux, Oral-phary...	OMIM:619488
Tyshchenko Syndrome	Pulmonic stenosis, Atrial septal defect, Ventricular septal defect	OMIM:615102
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Ectopic kidney, Spina bifida occulta, Vesicoureteral reflux, Perica...	OMIM:235510
Behçet Disease	Anorexia, Gastrointestinal hemorrhage, Glomerulopathy, Pancreatitis, Abdominal pain, Malabsorptio...	ORPHA:117
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Atrial septal defect, Ventricular septal defect, Umbilical hernia	OMIM:619769
Pyomyositis	Renal insufficiency, Testicular teratoma	ORPHA:764
Duane-Radial Ray Syndrome	Spina bifida occulta, Vesicoureteral reflux, Ventricular septal defect, Renal agenesis, Renal hyp...	OMIM:607323
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Elevated circulating...	OMIM:256040
Scorpion Envenomation	Acute kidney injury, Increased circulating NT-proBNP concentration, Hypokalemia, Diarrhea, Abdomi...	ORPHA:466677
Arboleda-Tham Syndrome	Gastroesophageal reflux, Recurrent urinary tract infections, Bilateral cryptorchidism, Hydronephr...	OMIM:616268
Robinow Syndrome	Pulmonary valve atresia, Tricuspid atresia, Multicystic kidney dysplasia, Pulmonic stenosis, Coar...	ORPHA:97360
Donnai-Barrow Syndrome	Ventricular septal defect, Non-acidotic proximal tubulopathy, Proteinuria, Umbilical hernia	OMIM:222448
Cranioectodermal Dysplasia 3	Stage 5 chronic kidney disease, Nephronophthisis, Cirrhosis	OMIM:614099
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Nephrolithiasis	ORPHA:369929
Limb Body Wall Complex	Abnormality of the kidney, Ectopia cordis, Abnormal heart morphology, Atrial septal defect, Ventr...	ORPHA:2369
Diamond-Blackfan Anemia 5	Ventricular septal defect, Hypospadias	OMIM:612528
Autosomal Dominant Coarctation Of Aorta	Ventricular septal defect, Hypoplastic left heart	ORPHA:1455
Coccidioidomycosis	Abnormality of the kidney, Pancreatitis, Abnormality of the bladder, Abnormality of the spleen, P...	ORPHA:228123
Methimazole Embryofetopathy	Ventricular septal defect, Hypospadias	ORPHA:1923
Pierson Syndrome	Tube feeding, Hypoproteinemia, Nephrotic syndrome, Diffuse mesangial sclerosis, Feeding difficult...	OMIM:609049
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Colitis, Hepatocellular carcinoma, Hepatitis, Splenomegaly, Renal insufficiency, Hy...	ORPHA:3261
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Overriding aorta, Atrial septal defect, Ventricular septal defect	OMIM:601927
Encephalocraniocutaneous Lipomatosis	Pelvic kidney, Hydronephrosis, Atrial septal defect, Ventricular septal defect, Subvalvular aorti...	OMIM:613001
Dyggve-Melchior-Clausen Disease	Protuberant abdomen	ORPHA:239
Mosaic Variegated Aneuploidy Syndrome	Abnormal aortic morphology, Coarctation of aorta, Nephroblastoma, Atrial septal defect, Multicyst...	ORPHA:1052
Opitz Gbbb Syndrome	Rectourethral fistula, Hypospadias, Vesicoureteral reflux, Congenital posterior urethral valve, U...	OMIM:300000
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Atrioventricular canal defect, Branchial anomaly, Abnormal bladder morphology, Vesicoureteral ref...	ORPHA:453499
Williams-Beuren Syndrome	Gastroesophageal reflux, Renal insufficiency, Hypercalciuria, Abnormal renal morphology, Recurren...	OMIM:194050
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Death in infancy	ORPHA:1393
Scalp-Ear-Nipple Syndrome	Unilateral renal agenesis, Breast aplasia, Renal hypoplasia, Renal insufficiency, Pyelonephritis	OMIM:181270
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hepatomegaly, Hypoplastic nipples, Hepatosplenomegaly, Feeding difficulties, Hepatoblastoma, Cryp...	ORPHA:96334
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Patent foramen ovale, Right atrial enlargement, Pericardial effusion, Myocardial fibrosis, Myofib...	OMIM:620519
X-Linked Lissencephaly With Abnormal Genitalia	Ventricular septal defect, Hypoplasia of penis	ORPHA:452
Familial Adenomatous Polyposis	Pancreatitis, Pancreatic adenocarcinoma, Neoplasm of the gallbladder, Colorectal polyposis, Duode...	ORPHA:733
Lmna-Related Cardiocutaneous Progeria Syndrome	Abnormal intrahepatic bile duct morphology, Papillary renal cell carcinoma	ORPHA:363618
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Unilateral renal agenesis, Ventricular hypertrophy, Vesicoureteral reflux, Pulmonic stenosis, Ren...	OMIM:620654
Relapsing Polychondritis	Glomerulopathy, Hematuria, Hepatitis, Proteinuria, Renal insufficiency	ORPHA:728
Hydranencephaly	Atrophic pituitary gland, Lethargy	ORPHA:2177
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Hajdu-Cheney Syndrome	Hepatomegaly, Splenomegaly, Multiple renal cysts, Hypospadias	ORPHA:955
Cockayne Syndrome B	Hepatomegaly, Renal insufficiency, Splenomegaly, Proteinuria, Cryptorchidism, Micropenis	OMIM:133540
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Unilateral renal agenesis, Coronary artery fistula, Neonatal death, Atrial septal defect, Ventric...	OMIM:620024
Cutis Marmorata Telangiectatica Congenita	Arteriovenous malformation, Displacement of the urethral meatus, Arterial stenosis, Patent ductus...	ORPHA:1556
Cockayne Syndrome A	Hepatomegaly, Renal insufficiency, Splenomegaly, Proteinuria, Cryptorchidism, Micropenis	OMIM:216400
Weill-Marchesani Syndrome 2	Narrow palate, High palate, Protuberant abdomen	OMIM:608328
Townes-Brocks Syndrome	Abnormality of the kidney, Ectopic kidney, Hypospadias, Hypoplasia of penis, Vesicoureteral reflu...	ORPHA:857
Kapur-Toriello Syndrome	Ventricular septal defect, Tetralogy of Fallot, Hypoplasia of penis	ORPHA:2328
Osteopathia Striata With Cranial Sclerosis	Anal stenosis, Gastroesophageal reflux, High palate, Anal atresia, Intestinal malrotation, Bifid ...	OMIM:300373
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Perimembranous ventricular septal defect, Hypospadias, Renal agenesis, Hydronephrosis, Umbilical ...	OMIM:301040
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect	OMIM:126320
Acrocardiofacial Syndrome	Hypospadias, Hypoplasia of penis, Truncus arteriosus, Mitral stenosis, Tetralogy of Fallot, Atria...	ORPHA:2008
Brain-Lung-Thyroid Syndrome	Hypospadias, Patent foramen ovale, Vesicoureteral reflux, Megacystis, Atrial septal defect, Ventr...	ORPHA:209905
African Trypanosomiasis	Urinary incontinence, Jaundice, Hepatomegaly, Renal insufficiency, Diarrhea, Abnormal prolactin l...	ORPHA:3385
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Renal cyst, Cryptorchidism, Hypospadias, Gastroesophageal reflux	ORPHA:495875
Arteriosclerosis, Severe Juvenile	Chronic kidney disease	OMIM:208060
Blomstrand Lethal Chondrodysplasia	Protuberant abdomen, Protruding tongue	ORPHA:50945
Pmm2-Cdg	Abnormal renal tubule morphology, Abnormal liver parenchyma morphology, Elevated circulating hepa...	ORPHA:79318
Kapur-Toriello Syndrome	Abnormality of the urinary system, Atrial septal defect, Ventricular septal defect, Micropenis	OMIM:244300
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Ventricular septal defect, Micropenis	ORPHA:2519
Aase-Smith Syndrome I	Ventricular septal defect	OMIM:147800
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Perimembranous ventricular septal defect, Atrioventricular canal defect, Hypospadias, Pelvic kidn...	ORPHA:508498
Chops Syndrome	Patent foramen ovale, Vesicoureteral reflux, Anomalous pulmonary venous return, Ventricular septa...	OMIM:616368
Seckel Syndrome 9	Recurrent urinary tract infections, Atrial septal defect, Ventricular septal defect	OMIM:616777
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Ventricular septal defect, Hypospadias, Hypoplasia of penis	ORPHA:77298
Hydrolethalus Syndrome 1	Hydronephrosis, Ventricular septal defect, Hypospadias, Complete atrioventricular canal defect	OMIM:236680
C Syndrome	Renal hypoplasia/aplasia, High palate, Constipation, Cleft palate, Abnormality of the anus, Crypt...	ORPHA:1308
Distal Deletion 19P	Pulmonary valve atresia, Tricuspid valve prolapse, Ventricular septal defect, Umbilical hernia	ORPHA:96129
Pyknoachondrogenesis	Abdominal distention	ORPHA:3003
Spondylocarpotarsal Synostosis Syndrome	Renal cyst	OMIM:272460
Townes-Brocks Syndrome 1	Hypospadias, Gastroesophageal reflux, Renal insufficiency, Vesicoureteral reflux, Renal hypoplasi...	OMIM:107480
Sotos Syndrome	Abnormality of the kidney, Ureteral duplication, Hypospadias, Gastroesophageal reflux, Phimosis, ...	ORPHA:821
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Renal agenesis, Ventricular septal defect, Hypospadias	OMIM:611812
Noonan Syndrome 10	Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral stenosis, Mitral valve prolapse, Left vent...	OMIM:616564
Pineoblastoma	Pinealoma, Lethargy	ORPHA:251909
Opitz Gbbb Syndrome	Hypospadias, Patent foramen ovale, Vesicoureteral reflux, Abnormal heart morphology, Hydronephros...	ORPHA:2745
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Elevated circulating creatine kinase concentration, Decreased testicular size, Hydronephrosis, Mi...	OMIM:615287
Cornelia De Lange Syndrome	Hypospadias, Gastroesophageal reflux, Hypoplasia of penis, Renal insufficiency, Vesicoureteral re...	ORPHA:199
Laubry-Pezzi Syndrome	Perimembranous ventricular septal defect, Subarterial ventricular septal defect, Patent foramen o...	ORPHA:99094
Mosaic Trisomy 16	Large placenta, Hypospadias, Abnormal heart morphology, Atrial septal defect, Ventricular septal ...	ORPHA:1708
Teebi-Shaltout Syndrome	Ureteral stenosis, Aortic valve stenosis, Hydronephrosis, Ventricular septal defect, Horseshoe ki...	OMIM:272950
Diamond-Blackfan Anemia 10	Ventricular septal defect, Ectopic kidney, Renal duplication	OMIM:613309
Peters Plus Syndrome	Renal hypoplasia/aplasia, Ureteral duplication, Hypospadias, Abnormal pulmonary vein morphology, ...	ORPHA:709
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Protuberant abdomen	OMIM:618019
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv...	ORPHA:3427
Tetraamelia Syndrome 2	Ventricular septal defect, Micropenis	OMIM:618021
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort...	OMIM:620066
Fanconi Anemia, Complementation Group C	Ectopic kidney, Duplicated collecting system, Renal agenesis, Ventricular septal defect, Horsesho...	OMIM:227645
Costello Syndrome	Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve prolapse, Atrial septal defect, Vent...	OMIM:218040
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect	OMIM:610338
Genitopatellar Syndrome	Anal stenosis, Multicystic kidney dysplasia, Anal atresia, Hydronephrosis, Dysphagia, Feeding dif...	OMIM:606170
Noonan Syndrome 3	Tricuspid valve prolapse, Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonic stenosis, M...	OMIM:609942
Noonan Syndrome 2	Atrioventricular canal defect, Patent foramen ovale, Cardiomyopathy, Hypertrophic cardiomyopathy,...	OMIM:605275
Histiocytosis-Lymphadenopathy Plus Syndrome	Azoospermia, Pulmonic stenosis, Mitral valve prolapse, Cardiomegaly, Atrial septal defect, Ventri...	OMIM:602782
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Death in childhood, Hypospadias, Unilateral renal agenesis, Death in infancy, Renal agenesis, Neo...	OMIM:308205
Branchiooculofacial Syndrome	Hypospadias, Gastroesophageal reflux, Duplication of internal organs, Renal cyst, Renal agenesis,...	OMIM:113620
Alström Syndrome	Hypertriglyceridemia, Urinary incontinence, Elevated circulating hepatic transaminase concentrati...	ORPHA:64
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Histiocytoid cardiomyopathy, Chordee, Overriding aorta, Atrial septal defect, Ventri...	OMIM:309801
Mowat-Wilson Syndrome	Urinary incontinence, Bowel incontinence, Bifid uvula, Dysphagia, Dependency on intravenous nutri...	ORPHA:2152
Adams-Oliver Syndrome 1	Encephalocele, Pulmonic stenosis, Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic val...	OMIM:100300
Mosaic Trisomy 20	Abnormality of the kidney, Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricu...	ORPHA:1724
Craniofacial Microsomia 1	Ectopic kidney, Right aortic arch, Vesicoureteral reflux, Renal agenesis, Coarctation of aorta, U...	OMIM:164210
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio...	ORPHA:95430
Blau Syndrome	Abnormal salivary gland morphology, Clear cell renal cell carcinoma, Splenomegaly, Abnormality of...	ORPHA:90340
Pallister-Killian Syndrome	Stillbirth, Anal stenosis, Hypospadias, Poor suck, Macroglossia, Renal cyst, Anal atresia, Intest...	OMIM:601803
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Bowel incontinence, Bifid uvula, Dysphagia, Aganglionic megacolon, Hypospad...	ORPHA:261537
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis, Aortic v...	ORPHA:353281
Okamoto Syndrome	Urinary incontinence, Abnormal left ventricle morphology, Primum atrial septal defect, Aortic val...	ORPHA:2729
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Bowel incontinence, Bifid uvula, Dysphagia, Duplication of renal pelvis, Ag...	ORPHA:261552
Cardiospondylocarpofacial Syndrome	Muscular ventricular septal defect, Patent foramen ovale, Vesicoureteral reflux, Dysplastic tricu...	OMIM:157800
Specc1L-Related Hypertelorism Syndrome	Ectopic kidney, Tetralogy of Fallot, Umbilical hernia, Atrial septal defect, Ventricular septal d...	ORPHA:1519
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Renal hypoplasia/aplasia, Abnormal renal morphology, Patent foramen ovale, Hypertrophic cardiomyo...	ORPHA:363700
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urinary incontinence, Hypospadias, Pelvic kidney, Grade III vesicoureteral reflux, Enuresis, Rena...	OMIM:619522
Chromosome 13Q14 Deletion Syndrome	Patent foramen ovale, Ventricular septal defect, Micropenis, Umbilical hernia	OMIM:613884
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Patent foramen ovale, Vesicoureteral reflux, Nephrolithiasis, Pulmonic stenosis, Abnormal heart m...	ORPHA:438213
Hereditary Sensory And Autonomic Neuropathy Type 4	Chronic kidney disease, Aplasia of the sweat glands, Dysphagia, Feeding difficulties	ORPHA:642
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart	OMIM:618748
Paternal Uniparental Disomy Of Chromosome 6	Cardiomegaly, Ventricular septal defect, Umbilical hernia	ORPHA:96191
Alzahrani-Kuwahara Syndrome	Hypospadias, Patent foramen ovale, Coronary sinus enlargement, Atrial septal defect, Ventricular ...	OMIM:619268
Congenital Tracheal Stenosis	Abnormality of the kidney, Abnormality of the ureter, Ventricular septal defect, Hypoplastic left...	ORPHA:141127
Orofaciodigital Syndrome Xiv	Epispadias, Occipital encephalocele, Atrial septal defect, Ventricular septal defect, Micropenis,...	OMIM:615948

Histopathology

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

There is no histopathology data for Bicc1

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

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Bicc1.

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

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

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

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Bicc1 MGI:1933388

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Gross Morphology Embryo E9.5

MicroCT E9.5

X-ray

Gross Morphology Embryo E14.5-E15.5

Human diseases caused by Bicc1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data